CHD7 — 4408 ClinVar variants

All ClinVar germline CHD7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1167 flagged for review →

604 Pathogenic · 40 Pathogenic/Likely pathogenic · 203 Likely pathogenic · 482 Conflicting · 238 Benign · 117 Benign/Likely benign · 1110 Likely benign · 1614 Uncertain significance

Full CHD7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1167

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 8

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

CHD7 p.Ile1028Val Pathogenic/Likely pathogenic Multiple submitters
CHD7-related CHARGE syndrome
CHD7 p.Ser699Gly Pathogenic/Likely pathogenic Multiple submitters
CHD7-related disorder
CHD7 p.Ala2966Ser Likely pathogenic Single submitter
CHARGE syndrome
CHD7 p.Asn2588Ser Pathogenic Single submitter
CHARGE syndrome
CHD7 p.Asp1596Val Likely pathogenic Single submitter
CHARGE syndrome
CHD7 p.Glu871Asp Likely pathogenic Single submitter
CHARGE syndrome
CHD7 p.Gly1845Glu Likely pathogenic Single submitter
CHARGE syndrome
CHD7 p.Gly2260Arg Likely pathogenic Single submitter
CHD7-related disorder

Predictors agree, ClinVar conflicts 213

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification. · showing the 150 best-reviewed of 213

CHD7 p.Ala1672Val Conflicting Single submitter
hypogonadotropic hypogonadism 5 with or without anosmia
CHD7 p.Ala173Val Conflicting Single submitter
CHARGE syndrome
CHD7 p.Ala1814Thr Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Ala2225Thr Conflicting Single submitter
CHARGE syndrome
CHD7 p.Ala2259Thr Conflicting Single submitter
hypogonadotropic hypogonadism 5 with or without anosmia
CHD7 p.Ala2391Ser Conflicting Single submitter
hypogonadotropic hypogonadism 5 with or without anosmia
CHD7 p.Ala246Pro Conflicting Single submitter
CHARGE syndrome
CHD7 p.Ala2487Val Conflicting Single submitter
CHARGE syndrome
CHD7 p.Ala2714Val Conflicting Single submitter
hypogonadotropic hypogonadism 5 with or without anosmia
CHD7 p.Ala2726Thr Conflicting Single submitter
hypogonadotropic hypogonadism 5 with or without anosmia
CHD7 p.Ala2730Val Conflicting Single submitter
CHARGE syndrome
CHD7 p.Ala2731Thr Conflicting Single submitter
hypogonadotropic hypogonadism 5 with or without anosmia
CHD7 p.Ala2733Thr Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Ala2789Val Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Ala2863Asp Conflicting Single submitter
CHARGE syndrome
CHD7 p.Ala391Gly Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Ala442Thr Conflicting Single submitter
CHARGE syndrome
CHD7 p.Ala777Val Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Ala99Pro Conflicting Single submitter
CHARGE syndrome
CHD7 p.Ala99Val Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Arg1317Cys Conflicting Single submitter
hypogonadotropic hypogonadism 5 with or without anosmia
CHD7 p.Arg1330Trp Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Arg1345Cys Conflicting Single submitter
CHARGE syndrome
CHD7 p.Arg148Lys Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Arg1629Cys Conflicting Single submitter
CHARGE syndrome
CHD7 p.Arg1912His Conflicting Single submitter
CHARGE syndrome
CHD7 p.Arg1922His Conflicting Single submitter
CHARGE syndrome
CHD7 p.Arg1976His Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Arg2062Trp Conflicting Single submitter
hypogonadotropic hypogonadism 5 with or without anosmia
CHD7 p.Arg2065Gly Conflicting Single submitter
CHARGE syndrome
CHD7 p.Arg2065His Conflicting Single submitter
CHD7-related disorder
CHD7 p.Arg2095Gln Conflicting Single submitter
CHARGE syndrome
CHD7 p.Arg2098Gln Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Arg2319His Conflicting Single submitter
CHARGE syndrome
CHD7 p.Arg2337Cys Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Arg2361Lys Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Arg2418Gln Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Arg2428Gln Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Arg2449Thr Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Arg2491Cys Conflicting Single submitter
CHARGE syndrome
CHD7 p.Arg2513Gln Conflicting Single submitter
CHARGE syndrome
CHD7 p.Arg459Cys Conflicting Single submitter
hypogonadotropic hypogonadism 5 with or without anosmia
CHD7 p.Arg459His Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Arg758His Conflicting Single submitter
CHARGE syndrome
CHD7 p.Arg886Gln Conflicting Single submitter
CHARGE syndrome
CHD7 p.Arg886Trp Conflicting Single submitter
CHARGE syndrome
CHD7 p.Arg947Gln Conflicting Single submitter
hypogonadotropic hypogonadism 5 with or without anosmia
CHD7 p.Asn224Ser Conflicting Single submitter
CHARGE syndrome
CHD7 p.Asn2322Ser Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Asn2393Lys Conflicting Single submitter
CHARGE syndrome
CHD7 p.Asn2573Ser Conflicting Single submitter
CHARGE syndrome
CHD7 p.Asn2634Ser Conflicting Single submitter
CHARGE syndrome
CHD7 p.Asn2742His Conflicting Single submitter
CHARGE syndrome
CHD7 p.Asn2848Lys Conflicting Single submitter
CHARGE syndrome
CHD7 p.Asn2891Ser Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Asn2891Thr Conflicting Single submitter
hypogonadotropic hypogonadism 5 with or without anosmia
CHD7 p.Asn329Ser Conflicting Single submitter
CHARGE syndrome
CHD7 p.Asn349Ser Conflicting Single submitter
hypogonadotropic hypogonadism 5 with or without anosmia
CHD7 p.Asn429Asp Conflicting Single submitter
hypogonadotropic hypogonadism 5 with or without anosmia
CHD7 p.Asn429His Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Asn454Ser Conflicting Single submitter
CHARGE syndrome
CHD7 p.Asp1379Val Conflicting Single submitter
CHD7 p.Asp1878Gly Conflicting Single submitter
CHARGE syndrome
CHD7 p.Asp2033Gly Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Asp2390Glu Conflicting Single submitter
CHARGE syndrome
CHD7 p.Asp2584Glu Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Asp2985Gly Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Asp728Glu Conflicting Single submitter
CHARGE syndrome
CHD7 p.Cys2093Tyr Conflicting Single submitter
CHARGE syndrome
CHD7 p.Cys2207Tyr Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Gln201Arg Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Gln2152Glu Conflicting Single submitter
CHARGE syndrome
CHD7 p.Gln241Arg Conflicting Single submitter
CHARGE syndrome
CHD7 p.Gln241His Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Gln2438Glu Conflicting Single submitter
hypogonadotropic hypogonadism 5 with or without anosmia
CHD7 p.Gln2762Glu Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Gln492Arg Conflicting Single submitter
CHARGE syndrome
CHD7 p.Gln500Arg Conflicting Single submitter
CHARGE syndrome
CHD7 p.Gln579Glu Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Glu1268Asp Conflicting Single submitter
CHARGE syndrome
CHD7 p.Glu2172Lys Conflicting Single submitter
CHARGE syndrome
CHD7 p.Glu2191Lys Conflicting Single submitter
hypogonadotropic hypogonadism 5 with or without anosmia
CHD7 p.Glu267Gly Conflicting Single submitter
CHARGE syndrome
CHD7 p.Glu2853Lys Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Glu2935Lys Conflicting Single submitter
CHARGE syndrome
CHD7 p.Gly119Cys Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Gly121Ser Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Gly1797Ala Conflicting Single submitter
hypogonadotropic hypogonadism 5 with or without anosmia
CHD7 p.Gly1797Arg Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Gly1802Asp Conflicting Single submitter
hypogonadotropic hypogonadism 5 with or without anosmia
CHD7 p.Gly2108Glu Conflicting Single submitter
CHD7-related CHARGE syndrome
CHD7 p.Gly2149Val Conflicting Single submitter
hypogonadotropic hypogonadism 5 with or without anosmia
CHD7 p.Gly2228Arg Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Gly2488Asp Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Gly2825Val Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Gly2875Arg Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Gly2920Ala Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Gly498Asp Conflicting Single submitter
CHARGE syndrome
CHD7 p.His102Asn Conflicting Single submitter
CHARGE syndrome
CHD7 p.His1128Tyr Conflicting Single submitter
CHARGE syndrome
CHD7 p.His203Arg Conflicting Single submitter
Inborn genetic diseases
CHD7 p.His234Gln Conflicting Single submitter
Inborn genetic diseases
CHD7 p.His257Arg Conflicting Single submitter
Inborn genetic diseases
CHD7 p.His265Arg Conflicting Single submitter
hypogonadotropic hypogonadism 5 with or without anosmia
CHD7 p.His437Arg Conflicting Single submitter
CHARGE syndrome
CHD7 p.His501Tyr Conflicting Single submitter
CHARGE syndrome
CHD7 p.His524Tyr Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Ile1080Val Conflicting Single submitter
CHARGE syndrome
CHD7 p.Ile1081Phe Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Ile2374Val Conflicting Single submitter
hypogonadotropic hypogonadism 5 with or without anosmia
CHD7 p.Ile2380Met Conflicting Single submitter
CHARGE syndrome
CHD7 p.Ile304Thr Conflicting Single submitter
CHARGE syndrome
CHD7 p.Ile43Val Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Ile590Val Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Ile823Val Conflicting Single submitter
CHARGE syndrome
CHD7 p.Leu1363His Conflicting Single submitter
CHARGE syndrome
CHD7 p.Leu1794Pro Conflicting Single submitter
CHARGE syndrome
CHD7 p.Leu2085Phe Conflicting Single submitter
CHARGE syndrome
CHD7 p.Leu2146Pro Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Leu2812Phe Conflicting Single submitter
CHARGE syndrome
CHD7 p.Leu373Phe Conflicting Single submitter
CHARGE syndrome
CHD7 p.Leu485Pro Conflicting Single submitter
CHARGE syndrome
CHD7 p.Leu763Val Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Lys1122Asn Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Lys1759Gln Conflicting Single submitter
CHARGE syndrome
CHD7 p.Lys2941Glu Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Lys757Arg Conflicting Single submitter
CHARGE syndrome
CHD7 p.Met1574Leu Conflicting Single submitter
hypogonadotropic hypogonadism 5 with or without anosmia
CHD7 p.Met1809Arg Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Met1838Ile Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Met210Ile Conflicting Single submitter
CHARGE syndrome
CHD7 p.Met2423Val Conflicting Single submitter
CHARGE syndrome
CHD7 p.Met245Val Conflicting Single submitter
CHD7-related disorder
CHD7 p.Met2898Val Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Met37Val Conflicting Single submitter
hypogonadotropic hypogonadism 5 with or without anosmia
CHD7 p.Met399Val Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Met402Val Conflicting Single submitter
CHD7-related disorder
CHD7 p.Met422Val Conflicting Single submitter
CHARGE syndrome
CHD7 p.Met443Val Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Met475Leu Conflicting Single submitter
CHARGE syndrome
CHD7 p.Met475Thr Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Met80Ile Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Met80Leu Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Phe2131Cys Conflicting Single submitter
CHARGE syndrome
CHD7 p.Pro108His Conflicting Single submitter
CHARGE syndrome
CHD7 p.Pro111Ser Conflicting Single submitter
CHARGE syndrome
CHD7 p.Pro1255Leu Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Pro167Leu Conflicting Single submitter
CHARGE syndrome
CHD7 p.Pro183Leu Conflicting Single submitter
CHARGE syndrome
CHD7 p.Pro2036Leu Conflicting Single submitter
CHARGE syndrome

Predicted LoF vs a conflicting call 3

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

CHD7 c.5051-1G>A Conflicting Single submitter
CHARGE syndrome
CHD7 c.8076+1G>C Conflicting Single submitter
CHARGE syndrome
CHD7 p.Gly2986fs Conflicting Single submitter
CHARGE syndrome

Predictors lean, ClinVar uncertain 844

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 844

CHD7 p.Ala2001Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CHD7 p.Ala2147Gly Uncertain significance Multiple submitters
Inborn genetic diseases
CHD7 p.Ala2211Asp Uncertain significance Multiple submitters
Inborn genetic diseases
CHD7 p.Ala2211Val Uncertain significance Multiple submitters
Inborn genetic diseases
CHD7 p.Ala2261Val Uncertain significance Multiple submitters
Inborn genetic diseases
CHD7 p.Ala2726Val Uncertain significance Multiple submitters
Inborn genetic diseases
CHD7 p.Ala2732Thr Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Ala2780Val Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Ala2804Val Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Ala2923Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CHD7 p.Ala2925Val Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Ala391Ser Uncertain significance Multiple submitters
Inborn genetic diseases
CHD7 p.Ala649Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CHD7 p.Arg1053His Uncertain significance Multiple submitters
VACTERL/vater association
CHD7 p.Arg1109Gly Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Arg1189Cys Uncertain significance Multiple submitters
CHD7 p.Arg1189His Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Arg1219Gln Uncertain significance Multiple submitters
CHD7 p.Arg1249Gln Uncertain significance Multiple submitters
hypogonadotropic hypogonadism 5 with or without anosmia
CHD7 p.Arg1249Trp Uncertain significance Multiple submitters
hypogonadotropic hypogonadism 5 with or without anosmia
CHD7 p.Arg1493Cys Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Arg1620Trp Uncertain significance Multiple submitters
Inborn genetic diseases
CHD7 p.Arg195His Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Arg1976Cys Uncertain significance Multiple submitters
hypogonadotropic hypogonadism 5 with or without anosmia
CHD7 p.Arg2057Cys Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Arg2111Trp Uncertain significance Multiple submitters
Monogenic hearing loss
CHD7 p.Arg2515Gly Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Arg88Gly Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Arg892Cys Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Arg920Gln Uncertain significance Multiple submitters
Inborn genetic diseases
CHD7 p.Asn2134Ser Uncertain significance Multiple submitters
CHD7-related disorder
CHD7 p.Asn2144Thr Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Asn221Asp Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Asn2419Ser Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Asn2436Lys Uncertain significance Multiple submitters
hypogonadotropic hypogonadism 5 with or without anosmia
CHD7 p.Asn2742Ser Uncertain significance Multiple submitters
CHD7 p.Asn2808Thr Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Asn2995Ser Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Asn325His Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Asn356Lys Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Asn449Ser Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Asn700Asp Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Asp1105Gly Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Asp1462Gly Uncertain significance Multiple submitters
Inborn genetic diseases
CHD7 p.Asp1841His Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Asp2247Gly Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Asp2321Glu Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Asp2355Glu Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Asp2590Asn Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Asp618Gly Uncertain significance Multiple submitters
Inborn genetic diseases
CHD7 p.Asp776Gly Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Asp993Gly Uncertain significance Multiple submitters
Inborn genetic diseases
CHD7 p.Cys1115Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
CHD7 p.Cys2207Arg Uncertain significance Multiple submitters
hypogonadotropic hypogonadism 5 with or without anosmia
CHD7 p.Gln1002Leu Uncertain significance Multiple submitters
Inborn genetic diseases
CHD7 p.Gln104Arg Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Gln104His Uncertain significance Multiple submitters
Inborn genetic diseases
CHD7 p.Gln1179Lys Uncertain significance Multiple submitters
CHD7 p.Gln168Arg Uncertain significance Multiple submitters
Inborn genetic diseases
CHD7 p.Gln1704Leu Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Gln171Arg Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Gln2205His Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Gln254Glu Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Gln535His Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Gln555Lys Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Gln627Lys Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Gln791His Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Gln792Arg Uncertain significance Multiple submitters
Inborn genetic diseases
CHD7 p.Gln839Arg Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Glu2238Lys Uncertain significance Multiple submitters
CHD7-related disorder
CHD7 p.Glu822Asp Uncertain significance Multiple submitters
CHD7 p.Gly1628Arg Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Gly176Val Uncertain significance Multiple submitters
Inborn genetic diseases
CHD7 p.Gly2103Asp Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Gly2136Glu Uncertain significance Multiple submitters
hypogonadotropic hypogonadism 5 with or without anosmia
CHD7 p.Gly219Asp Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Gly2437Arg Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Gly2500Asp Uncertain significance Multiple submitters
hypogonadotropic hypogonadism 5 with or without anosmia
CHD7 p.Gly2752Arg Uncertain significance Multiple submitters
hypogonadotropic hypogonadism 5 with or without anosmia
CHD7 p.Gly283Ala Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Gly2945Glu Uncertain significance Multiple submitters
CHD7-related disorder
CHD7 p.Gly2978Ala Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Gly2978Asp Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Gly2978Val Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Gly2986Ala Uncertain significance Multiple submitters
Inborn genetic diseases
CHD7 p.Gly614Cys Uncertain significance Multiple submitters
Inborn genetic diseases
CHD7 p.His68Tyr Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Ile1015Thr Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Ile1056Phe Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Ile1868Val Uncertain significance Multiple submitters
Inborn genetic diseases
CHD7 p.Ile1959Val Uncertain significance Multiple submitters
Inborn genetic diseases
CHD7 p.Ile2064Val Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Ile2157Val Uncertain significance Multiple submitters
Inborn genetic diseases
CHD7 p.Leu1310Phe Uncertain significance Multiple submitters
Inborn genetic diseases
CHD7 p.Leu1916Pro Uncertain significance Multiple submitters
CHD7 p.Leu2060Val Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Leu2394Phe Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Leu2563Val Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Leu2745Val Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Leu876Ile Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Lys2464Arg Uncertain significance Multiple submitters
CHD7-related disorder
CHD7 p.Lys641Glu Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Lys928Glu Uncertain significance Multiple submitters
Inborn genetic diseases
CHD7 p.Met1883Val Uncertain significance Multiple submitters
Inborn genetic diseases
CHD7 p.Met2339Val Uncertain significance Multiple submitters
Inborn genetic diseases
CHD7 p.Met37Thr Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Met80Val Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Phe1514Cys Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Phe1607Val Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Phe213Ile Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Phe2305Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
CHD7 p.Pro1782Leu Uncertain significance Multiple submitters
hypogonadotropic hypogonadism 5 with or without anosmia
CHD7 p.Pro183Ser Uncertain significance Multiple submitters
Inborn genetic diseases
CHD7 p.Pro2045Leu Uncertain significance Multiple submitters
Inborn genetic diseases
CHD7 p.Pro2468Ser Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Pro2552Leu Uncertain significance Multiple submitters
hypogonadotropic hypogonadism 5 with or without anosmia
CHD7 p.Pro2553Ser Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Pro2743Arg Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Pro2884Arg Uncertain significance Multiple submitters
CHD7 p.Pro2946Leu Uncertain significance Multiple submitters
Inborn genetic diseases
CHD7 p.Pro354Leu Uncertain significance Multiple submitters
Inborn genetic diseases
CHD7 p.Pro440Ser Uncertain significance Multiple submitters
CHD7-related disorder
CHD7 p.Pro512Ala Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Pro515Ser Uncertain significance Multiple submitters
hypogonadotropic hypogonadism 5 with or without anosmia
CHD7 p.Pro515Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CHD7 p.Pro516Ser Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Pro544Ser Uncertain significance Multiple submitters
Inborn genetic diseases
CHD7 p.Pro733Ala Uncertain significance Multiple submitters
CHD7 p.Pro733Leu Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Pro800Leu Uncertain significance Multiple submitters
Inborn genetic diseases
CHD7 p.Ser141Cys Uncertain significance Multiple submitters
Inborn genetic diseases
CHD7 p.Ser2041Phe Uncertain significance Multiple submitters
Inborn genetic diseases
CHD7 p.Ser2213Cys Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Ser293Gly Uncertain significance Multiple submitters
Inborn genetic diseases
CHD7 p.Ser2956Gly Uncertain significance Multiple submitters
Inborn genetic diseases
CHD7 p.Ser355Leu Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Ser357Asn Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Ser426Asn Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Ser808Asn Uncertain significance Multiple submitters
hypogonadotropic hypogonadism 5 with or without anosmia
CHD7 p.Thr1862Ile Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Thr1908Asn Uncertain significance Multiple submitters
Inborn genetic diseases
CHD7 p.Thr229Ala Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Thr2381Ser Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Thr2452Lys Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Thr2600Ala Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Thr2686Ala Uncertain significance Multiple submitters
Inborn genetic diseases
CHD7 p.Thr2827Pro Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Thr298Ala Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Thr513Ala Uncertain significance Multiple submitters
Inborn genetic diseases
CHD7 p.Thr917Met Uncertain significance Multiple submitters
CHARGE syndrome

Predictors split 99

The independent predictors disagree with each other — read with care.

CHD7 p.Asn1197Lys Uncertain significance Multiple submitters
Inborn genetic diseases
CHD7 p.Asp1770Tyr Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Asp70His Likely benign Multiple submitters
hypogonadotropic hypogonadism 5 with or without anosmia
CHD7 p.Glu1789Gly Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Glu1897Lys Benign/Likely benign Multiple submitters
CHARGE syndrome
CHD7 p.Glu2009Gly Uncertain significance Multiple submitters
Inborn genetic diseases
CHD7 p.Leu1041Val Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Lys1116Arg Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Met2421Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CHD7 p.Phe2750Leu Benign/Likely benign Multiple submitters
CHARGE syndrome
CHD7 p.Phe2775Leu Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Pro940Leu Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Ser751Asn Uncertain significance Multiple submitters
Inborn genetic diseases
CHD7 p.Tyr1008Cys Uncertain significance Multiple submitters
CHARGE syndrome
CHD7 p.Ala1516Val Uncertain significance Single submitter
CHD7 p.Ala2682Thr Uncertain significance Single submitter
CHARGE syndrome
CHD7 p.Ala2Glu Likely pathogenic Single submitter
hypogonadotropic hypogonadism 5 with or without anosmia
CHD7 p.Arg1036Gln Uncertain significance Single submitter
CHD7 p.Arg1095Gln Uncertain significance Single submitter
CHARGE syndrome
CHD7 p.Arg1155Cys Conflicting Single submitter
hypogonadotropic hypogonadism 5 with or without anosmia
CHD7 p.Arg1155His Conflicting Single submitter
hypogonadotropic hypogonadism 5 with or without anosmia
CHD7 p.Arg1820Gln Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Arg1939Gly Uncertain significance Single submitter
CHARGE syndrome
CHD7 p.Arg209Ser Uncertain significance Single submitter
CHD7 p.Arg2401Trp Uncertain significance Single submitter
CHARGE syndrome
CHD7 p.Arg2417Met Conflicting Single submitter
CHARGE syndrome
CHD7 p.Arg2417Thr Uncertain significance Single submitter
CHARGE syndrome
CHD7 p.Arg2579Ser Uncertain significance Single submitter
CHARGE syndrome
CHD7 p.Arg2631Gln Conflicting Single submitter
CHARGE syndrome
CHD7 p.Arg2710Trp Conflicting Single submitter
CHARGE syndrome
CHD7 p.Arg944Cys Conflicting Single submitter
hypogonadotropic hypogonadism 5 with or without anosmia
CHD7 p.Asn2634Asp Uncertain significance Single submitter
CHARGE syndrome
CHD7 p.Asn324Lys Conflicting Single submitter
CHARGE syndrome
CHD7 p.Asp1596Gly Conflicting Single submitter
CHD7-related CHARGE syndrome
CHD7 p.Asp1770Gly Likely benign Single submitter
CHARGE syndrome
CHD7 p.Asp1938Glu Uncertain significance Single submitter
CHARGE syndrome
CHD7 p.Asp70Gly Uncertain significance Single submitter
CHARGE syndrome
CHD7 p.Cys1816Ser Likely benign Single submitter
CHARGE syndrome
CHD7 p.Glu1789Lys Uncertain significance Single submitter
CHARGE syndrome
CHD7 p.Glu2009Ala Uncertain significance Single submitter
Inborn genetic diseases
CHD7 p.Glu2408Lys Uncertain significance Single submitter
CHARGE syndrome
CHD7 p.Glu770Gln Uncertain significance Single submitter
CHARGE syndrome
CHD7 p.Glu899Gly Uncertain significance Single submitter
CHD7-related CHARGE syndrome
CHD7 p.Gly1234Cys Uncertain significance Single submitter
CHARGE syndrome
CHD7 p.Gly124Asp Uncertain significance Single submitter
CHARGE syndrome
CHD7 p.Gly196Arg Uncertain significance Single submitter
CHD7-related disorder
CHD7 p.Gly25Arg Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Gly2693Ser Uncertain significance Single submitter
CHARGE syndrome
CHD7 p.Gly2778Arg Uncertain significance Single submitter
CHARGE syndrome
CHD7 p.Gly416Glu Benign Single submitter
CHARGE syndrome
CHD7 p.Gly446Glu Benign Single submitter
CHARGE syndrome
CHD7 p.Gly5Arg Uncertain significance Single submitter
hypogonadotropic hypogonadism 5 with or without anosmia
CHD7 p.Gly97Arg Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Gly97Glu Uncertain significance Single submitter
hypogonadotropic hypogonadism 5 with or without anosmia
CHD7 p.Ile1081Val Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Ile1796Thr Uncertain significance Single submitter
CHARGE syndrome
CHD7 p.Ile1959Thr Uncertain significance Single submitter
CHARGE syndrome
CHD7 p.Ile2232Val Conflicting Single submitter
CHARGE syndrome
CHD7 p.Ile2569Thr Uncertain significance Single submitter
CHARGE syndrome
CHD7 p.Ile2572Thr Likely benign Single submitter
CHARGE syndrome
CHD7 p.Lys1800Arg Conflicting Single submitter
CHARGE syndrome
CHD7 p.Lys2622Asn Uncertain significance Single submitter
CHARGE syndrome
CHD7 p.Lys2652Glu Uncertain significance Single submitter
CHARGE syndrome
CHD7 p.Lys2722Gln Uncertain significance Single submitter
CHARGE syndrome
CHD7 p.Lys2722Glu Uncertain significance Single submitter
CHARGE syndrome
CHD7 p.Lys747Asn Likely benign Single submitter
autism spectrum disorder
CHD7 p.Lys766Asn Benign Single submitter
CHARGE syndrome
CHD7 p.Lys79Glu Uncertain significance Single submitter
CHARGE syndrome
CHD7 p.Met1245Val Uncertain significance Single submitter
Inborn genetic diseases
CHD7 p.Met1823Val Conflicting Single submitter
CHARGE syndrome
CHD7 p.Met2423Ile Uncertain significance Single submitter
CHARGE syndrome
CHD7 p.Met2773Ile Uncertain significance Single submitter
CHARGE syndrome
CHD7 p.Met2898Ile Likely benign Single submitter
CHARGE syndrome
CHD7 p.Met396Ile Uncertain significance Single submitter
Inborn genetic diseases
CHD7 p.Met6Ile Benign Single submitter
CHARGE syndrome
CHD7 p.Phe226Leu Conflicting Single submitter
CHARGE syndrome
CHD7 p.Phe2340Leu Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Phe69Leu Uncertain significance Single submitter
CHARGE syndrome
CHD7 p.Phe765Leu Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Pro101Leu Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Pro1944Arg Uncertain significance Single submitter
CHARGE syndrome
CHD7 p.Pro2072Arg Uncertain significance Single submitter
CHARGE syndrome
CHD7 p.Pro2120Ala Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Pro2599Ser Uncertain significance Single submitter
CHARGE syndrome
CHD7 p.Pro2900Gln Uncertain significance Single submitter
CHARGE syndrome
CHD7 p.Ser1003Thr Uncertain significance Single submitter
Inborn genetic diseases
CHD7 p.Ser100Tyr Uncertain significance Single submitter
CHARGE syndrome
CHD7 p.Ser103Leu Conflicting Single submitter
CHARGE syndrome
CHD7 p.Ser1158Leu Uncertain significance Single submitter
CHARGE syndrome
CHD7 p.Ser191Arg Uncertain significance Single submitter
CHARGE syndrome
CHD7 p.Ser211Arg Uncertain significance Single submitter
CHARGE syndrome
CHD7 p.Ser2535Arg Uncertain significance Single submitter
CHD7 p.Ser417Asn Uncertain significance Single submitter
hypogonadotropic hypogonadism 5 with or without anosmia
CHD7 p.Ser699Arg Uncertain significance Single submitter
hypogonadotropic hypogonadism 5 with or without anosmia
CHD7 p.Thr1521Ala Uncertain significance Single submitter
CHD7 p.Thr2532Met Conflicting Single submitter
Inborn genetic diseases
CHD7 p.Tyr1011His Likely benign Single submitter
CHARGE syndrome
CHD7 p.Tyr1075Cys Conflicting Single submitter
CHARGE syndrome
CHD7 p.Met2753Thr Uncertain significance No assertion criteria
CHD7-related disorder

All CHD7 variants

Pathogenic 604

Showing the top 300 by review status; the full set is in the sitemap.

c.2097-2A>G Multiple submitters CHARGE syndrome
c.2238+1G>A Multiple submitters CHARGE syndrome
c.2836-2A>T Multiple submitters CHARGE syndrome
c.2957+2T>C Multiple submitters CHARGE syndrome
c.3522+1G>A Multiple submitters CHARGE syndrome
c.4185+1G>A Multiple submitters CHD7-related disorder
c.4186-2A>G Multiple submitters isolated anophthalmia-microphthalmia syndrome
c.4353+1G>T Multiple submitters CHARGE syndrome
c.4850+1G>A Multiple submitters CHARGE syndrome
c.5050+1G>A Multiple submitters
c.5211-1G>C Multiple submitters CHARGE syndrome
c.5211-2A>G Multiple submitters CHD7-related disorder
c.5300+1G>A Multiple submitters CHARGE syndrome
c.5405-17G>A Multiple submitters CHD7-related CHARGE syndrome
c.5405-7G>A Multiple submitters CHD7-related CHARGE syndrome
c.6775+1G>T Multiple submitters CHARGE syndrome
c.6936+2T>C Multiple submitters CHARGE syndrome
c.6937-2A>G Multiple submitters CHARGE syndrome
p.Arg1036Ter Multiple submitters CHD7-related CHARGE syndrome
p.Arg1069Ter Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
p.Arg1219Ter Multiple submitters CHD7-related disorder
p.Arg1339Ter Multiple submitters CHARGE syndrome
p.Arg1465Ter Multiple submitters CHD7-related disorder
p.Arg1494Ter Multiple submitters Inborn genetic diseases
p.Arg157Ter Multiple submitters Inborn genetic diseases
p.Arg1677Ter Multiple submitters CHARGE syndrome
p.Arg1810Ter Multiple submitters CHD7-related disorder
p.Arg1820Ter Multiple submitters CHARGE syndrome
p.Arg1945Ter Multiple submitters CHD7-related CHARGE syndrome
p.Arg2024Ter Multiple submitters Inborn genetic diseases
p.Arg2027Ter Multiple submitters CHARGE syndrome
p.Arg2050Ter Multiple submitters CHD7-related CHARGE syndrome
p.Arg2053Ter Multiple submitters cystic fibrosis
p.Arg2098Ter Multiple submitters Inborn genetic diseases
p.Arg2284Ter Multiple submitters CHD7-related disorder
p.Arg2319Cys Multiple submitters CHD7-related CHARGE syndrome
p.Arg2418Ter Multiple submitters CHD7-related disorder
p.Arg2428Ter Multiple submitters Inborn genetic diseases
p.Arg2627Ter Multiple submitters Paediatric disorders
p.Arg2631Ter Multiple submitters CHD7-related disorder
p.Arg2653Ter Multiple submitters CHD7-related disorder
p.Arg312Ter Multiple submitters Inborn genetic diseases
p.Arg494Ter Multiple submitters CHD7-related disorder
p.Arg947Ter Multiple submitters CHARGE syndrome
p.Arg969fs Multiple submitters CHARGE syndrome
p.Arg987Ter Multiple submitters CHARGE syndrome
p.Asn1030Ser Multiple submitters CHARGE syndrome
p.Asn96fs Multiple submitters CHARGE syndrome
p.Asp1993fs Multiple submitters CHD7-related CHARGE syndrome
p.Asp2684fs Multiple submitters CHARGE syndrome
p.Gln1283Ter Multiple submitters CHARGE syndrome
p.Gln136Ter Multiple submitters CHARGE syndrome
p.Gln1440Ter Multiple submitters CHARGE syndrome
p.Gln155Ter Multiple submitters CHARGE syndrome
p.Gln1599Ter Multiple submitters CHARGE syndrome
p.Gln166Ter Multiple submitters CHD7-related disorder
p.Gln1675Ter Multiple submitters CHARGE syndrome
p.Gln171Ter Multiple submitters CHD7-related disorder
p.Gln180Ter Multiple submitters CHARGE syndrome
p.Gln184Ter Multiple submitters CHD7-related CHARGE syndrome
p.Gln187Ter Multiple submitters
p.Gln1990Ter Multiple submitters CHARGE syndrome
p.Gln202Ter Multiple submitters CHARGE syndrome
p.Gln205Ter Multiple submitters Inborn genetic diseases
p.Gln2067Ter Multiple submitters CHARGE syndrome
p.Gln2073Ter Multiple submitters CHD7-related CHARGE syndrome
p.Gln222Ter Multiple submitters
p.Gln2426fs Multiple submitters CHARGE syndrome
p.Gln364Ter Multiple submitters CHARGE syndrome
p.Gln438Ter Multiple submitters CHARGE syndrome
p.Gln457Ter Multiple submitters CHARGE syndrome
p.Gln489Ter Multiple submitters
p.Gln753Ter Multiple submitters CHARGE syndrome
p.Glu2059Ter Multiple submitters
p.Glu2172Ter Multiple submitters CHARGE syndrome
p.Glu2412Ter Multiple submitters CHD7-related disorder
p.Glu2450fs Multiple submitters CHARGE syndrome
p.Glu2675Ter Multiple submitters CHARGE syndrome
p.Glu664fs Multiple submitters CHARGE syndrome
p.Glu939Ter Multiple submitters CHARGE syndrome
p.Glu974_Gly975insTer Multiple submitters CHARGE syndrome
p.Gly1684Ser Multiple submitters Inborn genetic diseases
p.Gly2108Arg Multiple submitters CHD7-related CHARGE syndrome
p.His903fs Multiple submitters CHARGE syndrome
p.Ile1460fs Multiple submitters CHARGE syndrome
p.Leu1294Pro Multiple submitters CHARGE syndrome
p.Leu2039fs Multiple submitters CHARGE syndrome
p.Lys1191fs Multiple submitters CHARGE syndrome
p.Lys602fs Multiple submitters CHARGE syndrome
p.Lys643fs Multiple submitters CHARGE syndrome
p.Pro174fs Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
p.Pro1782fs Multiple submitters CHARGE syndrome
p.Ser1313fs Multiple submitters CHARGE syndrome
p.Ser794_Val795insTer Multiple submitters CHARGE syndrome
p.Thr64fs Multiple submitters CHARGE syndrome
p.Trp1786Ter Multiple submitters CHARGE syndrome
p.Tyr1746Ter Multiple submitters CHARGE syndrome
p.Tyr2056fs Multiple submitters CHARGE syndrome
p.Tyr2601Ter Multiple submitters CHD7-related disorder
p.Tyr390Ter Multiple submitters CHARGE syndrome
p.Tyr72Ter Multiple submitters CHARGE syndrome
p.Val1141fs Multiple submitters CHD7-related disorder
p.Val2433fs Multiple submitters CHARGE syndrome
c.1665+1G>A Single submitter CHARGE syndrome
c.2096+1G>A Single submitter CHARGE syndrome
c.2097-1G>A Single submitter
c.2097-1G>C Single submitter CHARGE syndrome
c.2239-20_2239-6del Single submitter CHARGE syndrome
c.2442+1G>T Single submitter
c.2442+2449_2498+259del Single submitter CHARGE syndrome
c.2442+5G>C Single submitter CHARGE syndrome
c.2498+5G>A Single submitter CHARGE syndrome
c.2835+1G>T Single submitter CHARGE syndrome
c.2957+2T>G Single submitter
c.2957+5G>A Single submitter CHARGE syndrome
c.2958-19C>G Single submitter CHD7-related CHARGE syndrome
c.3202-1G>A Single submitter
c.3378+5G>C Single submitter CHARGE syndrome
c.3379-2A>G Single submitter
c.3522+1G>T Single submitter
c.3778+1G>A Single submitter
c.3779-2A>G Single submitter Inborn genetic diseases
c.3990-1G>C Single submitter CHARGE syndrome
c.3990-2A>G Single submitter CHD7-related disorder
c.4354-1G>A Single submitter CHARGE syndrome
c.4533+1G>A Single submitter CHARGE syndrome
c.4644+1G>A Single submitter
c.4645-1G>A Single submitter CHARGE syndrome
c.4645-2A>G Single submitter Inborn genetic diseases
c.4850+2_4850+9del Single submitter CHD7-related CHARGE syndrome
c.5050+1G>C Single submitter CHARGE syndrome
c.5405-13G>A Single submitter CHARGE syndrome
c.5405-18C>A Single submitter CHARGE syndrome
c.5405-2A>G Single submitter CHARGE syndrome
c.5534+1G>A Single submitter Inborn genetic diseases
c.5608-10T>A Single submitter CHARGE syndrome
c.5665+1dup Single submitter CHARGE syndrome
c.5665+1G>T Single submitter CHD7-related disorder
c.5666-2A>C Single submitter CHARGE syndrome
c.5894+1G>A Single submitter CHARGE syndrome
c.5894+2T>G Single submitter hypogonadotropic hypogonadism
c.5895-1G>A Single submitter
c.5895-1G>C Single submitter
c.5895-2A>T Single submitter CHARGE syndrome
c.6103+1G>A Single submitter
c.6104-1G>C Single submitter hypogonadotropic hypogonadism 5 with or without anosmia
c.6775+1G>A Single submitter CHARGE syndrome
c.7165-4A>G Single submitter CHARGE syndrome
c.7971+1G>A Single submitter Inborn genetic diseases
c.8077-1G>C Single submitter CHARGE syndrome
p.Ala1023fs Single submitter Inborn genetic diseases
p.Ala1378Pro Single submitter
p.Ala1544_Leu1545insTer Single submitter CHARGE syndrome
p.Ala1567_Val1568insTer Single submitter Inborn genetic diseases
p.Ala1687fs Single submitter CHD7-related CHARGE syndrome
p.Ala1919fs Single submitter CHARGE syndrome
p.Ala1972fs Single submitter CHARGE syndrome
p.Ala1999fs Single submitter CHARGE syndrome
p.Ala2261fs Single submitter
p.Ala2297fs Single submitter CHARGE syndrome
p.Ala2544fs Single submitter
p.Ala263fs Single submitter CHD7-related disorder
p.Ala270fs Single submitter CHARGE syndrome
p.Ala2822fs Single submitter
p.Ala709_Leu710insTer Single submitter CHARGE syndrome
p.Ala797fs Single submitter
p.Ala950fs Single submitter
p.Arg133fs Single submitter CHARGE syndrome
p.Arg1345fs Single submitter CHARGE syndrome
p.Arg1557fs Single submitter CHARGE syndrome
p.Arg2077fs Single submitter CHD7-related CHARGE syndrome
p.Arg2098fs Single submitter CHARGE syndrome
p.Arg2319Leu Single submitter
p.Arg2404fs Single submitter
p.Arg2428fs Single submitter CHARGE syndrome
p.Arg2512fs Single submitter CHD7-related CHARGE syndrome
p.Arg2515fs Single submitter CHARGE syndrome
p.Arg2555fs Single submitter CHARGE syndrome
p.Arg2568fs Single submitter CHARGE syndrome
p.Arg2646fs Single submitter CHARGE syndrome
p.Arg346fs Single submitter CHARGE syndrome
p.Arg646fs Single submitter
p.Arg752Ter Single submitter CHARGE syndrome
p.Arg809_Ser810insTer Single submitter CHD7-related CHARGE syndrome
p.Asn1096fs Single submitter CHD7-related disorder
p.Asn1112delinsProThrGlyTer Single submitter CHARGE syndrome
p.Asn1212fs Single submitter CHARGE syndrome
p.Asn1225fs Single submitter CHARGE syndrome
p.Asn1237delinsLysArgTrpSerSerTer Single submitter CHARGE syndrome
p.Asn1374fs Single submitter
p.Asn1652Ter Single submitter CHD7-related CHARGE syndrome
p.Asn2134fs Single submitter CHARGE syndrome
p.Asn2273fs Single submitter CHARGE syndrome
p.Asn2588fs Single submitter Inborn genetic diseases
p.Asn2588Ser Single submitter CHARGE syndrome ⚠
p.Asn2850fs Single submitter CHARGE syndrome
p.Asn306fs Single submitter Inborn genetic diseases
p.Asn603fs Single submitter CHARGE syndrome
p.Asn724fs Single submitter
p.Asn832fs Single submitter CHARGE syndrome
p.Asn977fs Single submitter CHARGE syndrome
p.Asp1193fs Single submitter CHARGE syndrome
p.Asp1543fs Single submitter CHARGE syndrome
p.Asp1554fs Single submitter CHARGE syndrome
p.Asp1638_Val1639insTer Single submitter CHARGE syndrome
p.Asp1812Gly Single submitter CHD7-related CHARGE syndrome
p.Asp1849fs Single submitter CHARGE syndrome
p.Asp1878fs Single submitter Inborn genetic diseases
p.Asp2097His Single submitter CHARGE syndrome
p.Asp2119_Pro2120insHisHisIleLeuAsnAsp Single submitter CHARGE syndrome
p.Asp2247fs Single submitter CHARGE syndrome
p.Asp2249fs Single submitter Inborn genetic diseases
p.Asp2281fs Single submitter CHARGE syndrome
p.Asp2476fs Single submitter
p.Asp2614fs Single submitter
p.Asp2856_Ser2857insTer Single submitter CHARGE syndrome
p.Asp726fs Single submitter CHD7-related CHARGE syndrome
p.Asp728fs Single submitter
p.Asp774fs Single submitter CHARGE syndrome
p.Asp895fs Single submitter CHARGE syndrome
p.Asp923fs Single submitter CHARGE syndrome
p.Cys1091Ter Single submitter CHARGE syndrome
p.Cys1735fs Single submitter CHARGE syndrome
p.Cys2081fs Single submitter CHARGE syndrome
p.Cys2081Ter Single submitter
p.Cys838Ter Single submitter CHARGE syndrome
p.Gln104Ter Single submitter
p.Gln1138fs Single submitter Inborn genetic diseases
p.Gln1138Ter Single submitter CHARGE syndrome
p.Gln1164Ter Single submitter CHARGE syndrome
p.Gln1176Ter Single submitter CHARGE syndrome
p.Gln1214Arg Single submitter
p.Gln1214Pro Single submitter CHARGE syndrome
p.Gln122Ter Single submitter
p.Gln1281fs Single submitter CHARGE syndrome
p.Gln1287Ter Single submitter
p.Gln130Ter Single submitter CHD7-related disorder
p.Gln1346Ter Single submitter CHD7 Disorder
p.Gln1397Ter Single submitter
p.Gln1454Ter Single submitter CHARGE syndrome
p.Gln151Ter Single submitter
p.Gln1595Ter Single submitter CHARGE syndrome
p.Gln163Ter Single submitter CHARGE syndrome
p.Gln1701fs Single submitter CHARGE syndrome
p.Gln1701Ter Single submitter CHARGE syndrome
p.Gln1704Ter Single submitter CHARGE syndrome
p.Gln1723fs Single submitter CHARGE syndrome
p.Gln1928Ter Single submitter CHARGE syndrome
p.Gln1991Ter Single submitter
p.Gln207Ter Single submitter CHARGE syndrome
p.Gln212fs Single submitter CHARGE syndrome
p.Gln212Ter Single submitter CHARGE syndrome
p.Gln2152Ter Single submitter
p.Gln2205Ter Single submitter
p.Gln2298Ter Single submitter scoliosis
p.Gln240fs Single submitter CHARGE syndrome
p.Gln240Ter Single submitter
p.Gln2438Ter Single submitter CHARGE syndrome
p.Gln2481Ter Single submitter
p.Gln254Ter Single submitter
p.Gln255Ter Single submitter CHD7-related CHARGE syndrome
p.Gln2562Ter Single submitter CHARGE syndrome
p.Gln281Ter Single submitter CHARGE syndrome
p.Gln297Ter Single submitter CHARGE syndrome
p.Gln375Ter Single submitter
p.Gln387Ter Single submitter CHARGE syndrome
p.Gln434Ter Single submitter CHARGE syndrome
p.Gln456fs Single submitter CHARGE syndrome
p.Gln456Ter Single submitter
p.Gln505Ter Single submitter CHARGE syndrome
p.Gln509fs Single submitter CHARGE syndrome
p.Gln509Ter Single submitter CHARGE syndrome
p.Gln510Ter Single submitter CHD7-related CHARGE syndrome
p.Gln51Ter Single submitter
p.Gln526Ter Single submitter
p.Gln535Ter Single submitter CHARGE syndrome
p.Gln545fs Single submitter
p.Gln545Ter Single submitter CHARGE syndrome
p.Gln555Ter Single submitter CHARGE syndrome
p.Gln572Ter Single submitter
p.Gln592fs Single submitter CHARGE syndrome
p.Gln78Ter Single submitter CHARGE syndrome
p.Gln791Ter Single submitter
p.Gln814Ter Single submitter CHARGE syndrome
p.Gln839Ter Single submitter CHARGE syndrome
p.Glu1119fs Single submitter
p.Glu1127Ter Single submitter CHARGE syndrome
p.Glu1172fs Single submitter CHARGE syndrome
p.Glu1268fs Single submitter CHD7-related CHARGE syndrome
p.Glu1271fs Single submitter CHARGE syndrome
p.Glu1423fs Single submitter CHARGE syndrome
p.Glu1446Ter Single submitter
p.Glu1459Ter Single submitter CHARGE syndrome
p.Glu1475fs Single submitter CHARGE syndrome
p.Glu1503Ter Single submitter
p.Glu1580Ter Single submitter CHARGE syndrome
p.Glu1636Ter Single submitter CHARGE syndrome
p.Glu1751fs Single submitter Inborn genetic diseases
p.Glu1847Ter Single submitter
p.Glu1851Ter Single submitter CHARGE syndrome

Pathogenic/Likely pathogenic 40

c.2613+1G>A Multiple submitters CHARGE syndrome
c.2836-1G>A Multiple submitters CHD7-related disorder
c.3202-3T>G Multiple submitters CHARGE syndrome
c.3379-2A>C Multiple submitters CHARGE syndrome
c.5210+1G>A Multiple submitters CHD7-related disorder
c.5210+3A>G Multiple submitters CHARGE syndrome
c.5607+1G>A Multiple submitters CHARGE syndrome
c.7164+1G>A Multiple submitters CHARGE syndrome
c.8077-2A>G Multiple submitters CHARGE syndrome
p.Arg1345His Multiple submitters CHD7-related disorder
p.Arg2065Cys Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
p.Arg858Ter Multiple submitters CHARGE syndrome
p.Asp1090fs Multiple submitters CHARGE syndrome
p.Asp2988fs Multiple submitters CHD7-related disorder
p.Asp652fs Multiple submitters CHARGE syndrome
p.Cys1101Arg Multiple submitters CHD7-related disorder
p.Cys1101Tyr Multiple submitters Inborn genetic diseases
p.Gln288Ter Multiple submitters CHARGE syndrome
p.Gln579Ter Multiple submitters CHARGE syndrome
p.Gln863Ter Multiple submitters CHARGE syndrome
p.Glu2253Ter Multiple submitters CHD7-related CHARGE syndrome
p.Glu2429Ter Multiple submitters CHARGE syndrome
p.Gly321Ter Multiple submitters CHD7-related disorder
p.His2096Arg Multiple submitters CHARGE syndrome
p.Ile1028Val Multiple submitters CHD7-related CHARGE syndrome ⚠
p.Leu1020Ser Multiple submitters Inborn genetic diseases
p.Leu2916fs Multiple submitters CHD7-related CHARGE syndrome
p.Phe2124del Multiple submitters CHARGE syndrome
p.Pro354fs Multiple submitters CHARGE syndrome
p.Ser699Gly Multiple submitters CHD7-related disorder ⚠
p.Trp2594Ter Multiple submitters CHD7-related disorder
p.Tyr2601fs Multiple submitters CHARGE syndrome
p.Val1208Asp Multiple submitters CHARGE syndrome
c.5210+2T>C No assertion criteria CHARGE syndrome
p.Arg448fs No assertion criteria CHARGE syndrome
p.Asn1612fs No assertion criteria CHARGE syndrome
p.Gln309Ter No assertion criteria CHARGE syndrome
p.Ile1206fs No assertion criteria CHARGE syndrome
p.Tyr1803Ter No assertion criteria CHARGE syndrome
p.Val1070fs No assertion criteria CHARGE syndrome

Likely pathogenic 203

c.2377-1G>A Multiple submitters CHARGE syndrome
c.2958-3A>G Multiple submitters CHD7-related disorder
c.4353+3A>G Multiple submitters CHARGE syndrome
c.8078del Multiple submitters CHARGE syndrome
p.Lys1076Glu Multiple submitters CHARGE syndrome
p.Phe2124Ser Multiple submitters CHARGE syndrome
p.Thr1416Arg Multiple submitters CHARGE syndrome
c.2097-1del Single submitter CHD7-related disorder
c.2239-8T>A Single submitter CHD7-related disorder
c.2377-2A>G Single submitter
c.2442+1G>A Single submitter CHARGE syndrome
c.2499-1G>T Single submitter CHD7-related disorder
c.2613+1del Single submitter CHARGE syndrome
c.2613+1G>T Single submitter CHARGE syndrome
c.2698-1G>T Single submitter CHARGE syndrome
c.2698-2A>G Single submitter hypogonadotropic hypogonadism
c.3201+1G>A Single submitter CHARGE syndrome
c.3201+1G>T Single submitter Inborn genetic diseases
c.3378+5G>A Single submitter
c.3378+5G>T Single submitter
c.3522+1del Single submitter
c.3522+2T>C Single submitter
c.3523-19A>T Single submitter CHARGE syndrome
c.3523-2A>C Single submitter CHARGE syndrome
c.3757_3778+7del Single submitter CHARGE syndrome
c.3989+1G>C Single submitter CHD7-related disorder
c.3989+2T>G Single submitter CHARGE syndrome
c.3990-2A>C Single submitter CHD7-related disorder
c.4186-1G>A Single submitter
c.4354-6A>G Single submitter CHARGE syndrome
c.4533+1G>C Single submitter CHARGE syndrome
c.4644+1G>T Single submitter CHARGE syndrome
c.4644+5G>C Single submitter CHARGE syndrome
c.4644+5G>T Single submitter Inborn genetic diseases
c.4645-1G>C Single submitter Inborn genetic diseases
c.4851-2A>G Single submitter CHD7-related CHARGE syndrome
c.5211-2_5227del Single submitter CHARGE syndrome
c.5300+216_5386delinsATCCAAACACACCATGT Single submitter CHARGE syndrome
c.5301-1G>A Single submitter CHD7-related disorder
c.5404+2T>C Single submitter CHARGE syndrome
c.5535-2del Single submitter CHD7-related disorder
c.5607+2T>C Single submitter CHARGE syndrome
c.5894+1G>T Single submitter CHARGE syndrome
c.5894+5G>A Single submitter CHARGE syndrome
c.6103+2T>C Single submitter CHD7-related disorder
c.6103+5G>C Single submitter CHD7-related disorder
c.6104-2A>T Single submitter CHARGE syndrome
c.6776-1G>A Single submitter CHARGE syndrome
c.7165-1G>A Single submitter CHARGE syndrome
c.7165-2A>G Single submitter hypogonadotropic hypogonadism 5 with or without anosmia
c.7971+1G>T Single submitter CHARGE syndrome
c.8077-10T>A Single submitter CHARGE syndrome
c.8077-1G>A Single submitter CHD7-related disorder
c.-174-1G>A Single submitter
p.Ala1378Val Single submitter
p.Ala1790Pro Single submitter CHD7-related disorder
p.Ala179fs Single submitter
p.Ala2137fs Single submitter CHD7-related CHARGE syndrome
p.Ala2536fs Single submitter CHD7-related CHARGE syndrome
p.Ala2966Ser Single submitter CHARGE syndrome ⚠
p.Ala2Glu Single submitter hypogonadotropic hypogonadism 5 with or without anosmia ⚠
p.Arg1399Gly Single submitter CHARGE syndrome
p.Arg1557Gly Single submitter CHARGE syndrome
p.Arg1743Cys Single submitter CHARGE syndrome
p.Arg1915Gln Single submitter CHARGE syndrome
p.Arg1969del Single submitter
p.Arg2264fs Single submitter
p.Arg250fs Single submitter CHD7-related CHARGE syndrome
p.Asn1030Asp Single submitter CHD7-related CHARGE syndrome
p.Asn2676fs Single submitter CHD7-related disorder
p.Asn278fs Single submitter
p.Asn73fs Single submitter CHARGE syndrome
p.Asn785fs Single submitter CHARGE syndrome
p.Asn985del Single submitter
p.Asp1477fs Single submitter CHD7-related disorder
p.Asp1596Val Single submitter CHARGE syndrome ⚠
p.Asp1812Glu Single submitter CHARGE syndrome
p.Asp1812Val Single submitter CHARGE syndrome
p.Asp2285fs Single submitter
p.Asp2590fs Single submitter
p.Asp849fs Single submitter CHARGE syndrome
p.Asp849Gly Single submitter CHARGE syndrome
p.Cys1251Arg Single submitter CHARGE syndrome
p.Cys1643Phe Single submitter CHD7-related disorder
p.Cys1643Tyr Single submitter CHARGE syndrome
p.Cys2187Ter Single submitter CHARGE syndrome
p.Gln1050fs Single submitter CHD7-related disorder
p.Gln1214His Single submitter CHARGE syndrome
p.Gln1637Ter Single submitter CHD7-related CHARGE syndrome
p.Gln1921Ter Single submitter CHD7-related disorder
p.Gln1964Ter Single submitter CHD7-related disorder
p.Gln2486delinsHisTer Single submitter CHD7-related disorder
p.Gln2486Ter Single submitter
p.Gln447Ter Single submitter CHARGE syndrome
p.Gln595fs Single submitter CHD7-related CHARGE syndrome
p.Gln746His Single submitter CHARGE syndrome
p.Glu1032_Trp1038del Single submitter CHARGE syndrome
p.Glu1501_Ser1502insTer Single submitter CHARGE syndrome
p.Glu1932fs Single submitter
p.Glu2012Val Single submitter CHARGE syndrome
p.Glu2191fs Single submitter CHD7-related disorder
p.Glu2253fs Single submitter
p.Glu2435Ter Single submitter
p.Glu2550Ter Single submitter CHARGE syndrome
p.Glu26fs Single submitter CHARGE syndrome
p.Glu26Ter Single submitter CHD7-related disorder
p.Glu2837Ter Single submitter CHARGE syndrome
p.Glu793Ter Single submitter CHARGE syndrome
p.Glu871Asp Single submitter CHARGE syndrome ⚠
p.Gly1684Arg Single submitter CHD7-related CHARGE syndrome
p.Gly1684Cys Single submitter CHARGE syndrome
p.Gly1802Ser Single submitter CHARGE syndrome
p.Gly1845Glu Single submitter CHARGE syndrome ⚠
p.Gly1982Trp Single submitter CHARGE syndrome
p.Gly2260Arg Single submitter CHD7-related disorder ⚠
p.Gly2514Ter Single submitter CHD7-related disorder
p.His1078Tyr Single submitter
p.His1108Tyr Single submitter
p.His1128fs Single submitter
p.His115fs Single submitter
p.His1254Arg Single submitter
p.His1254Pro Single submitter
p.His1273fs Single submitter CHD7-related disorder
p.His1401Arg Single submitter CHD7-related CHARGE syndrome
p.His1801Asn Single submitter hypogonadotropic hypogonadism 5 with or without anosmia
p.His2070fs Single submitter CHARGE syndrome
p.His533fs Single submitter CHARGE syndrome
p.His68fs Single submitter CHARGE syndrome
p.Ile1081Asn Single submitter
p.Ile1415fs Single submitter CHD7-related disorder
p.Ile1500fs Single submitter CHD7-related disorder
p.Leu1131Pro Single submitter
p.Leu1299Pro Single submitter
p.Leu1322Pro Single submitter
p.Leu1651Pro Single submitter CHD7-related CHARGE syndrome
p.Leu1909Arg Single submitter CHD7-related disorder
p.Leu2080Pro Single submitter
p.Leu2502fs Single submitter CHARGE syndrome
p.Leu876fs Single submitter CHD7-related CHARGE syndrome
p.Leu997Ser Single submitter CHARGE syndrome
p.Leu9fs Single submitter CHD7-related disorder
p.Lys1076fs Single submitter
p.Lys1183Gln Single submitter CHD7-related disorder
p.Lys1827fs Single submitter CHARGE syndrome
p.Lys1890fs Single submitter CHARGE syndrome
p.Lys2063fs Single submitter CHARGE syndrome
p.Lys2079fs Single submitter CHARGE syndrome
p.Lys2464_Pro2473del Single submitter CHARGE syndrome
p.Lys2855fs Single submitter
p.Lys651fs Single submitter CHD7-related disorder
p.Lys672fs Single submitter CHARGE syndrome
p.Lys702fs Single submitter CHD7-related disorder
p.Lys79fs Single submitter CHD7-related disorder
p.Phe1817Cys Single submitter CHARGE syndrome
p.Phe1985fs Single submitter CHARGE syndrome
p.Phe2124Cys Single submitter hypogonadotropic hypogonadism 5 with or without anosmia
p.Phe868fs Single submitter CHARGE syndrome
p.Pro1029Leu Single submitter CHD7-related CHARGE syndrome
p.Pro1690delinsLeuThr Single submitter CHARGE syndrome
p.Pro2294fs Single submitter CHD7-related disorder
p.Pro2696fs Single submitter CHARGE syndrome
p.Pro386fs Single submitter CHD7-related disorder
p.Pro656fs Single submitter CHD7-related disorder
p.Pro674fs Single submitter Congenital heart disease (variable)
p.Ser1158fs Single submitter CHD7-related disorder
p.Ser1230fs Single submitter CHARGE syndrome
p.Ser1313Pro Single submitter CHARGE syndrome
p.Ser782fs Single submitter CHD7-related CHARGE syndrome
p.Ser956Ter Single submitter atrial septal defect
p.Thr1000fs Single submitter CHARGE syndrome
p.Thr107fs Single submitter
p.Thr1160fs Single submitter CHARGE syndrome
p.Thr1161fs Single submitter CHD7-related disorder
p.Thr2532fs Single submitter CHARGE syndrome
p.Thr2861fs Single submitter
p.Thr689fs Single submitter CHARGE syndrome
p.Trp1038Arg Single submitter CHD7-related CHARGE syndrome
p.Trp1099Arg Single submitter CHARGE syndrome
p.Trp1618Ter Single submitter CHARGE syndrome
p.Trp2672fs Single submitter
p.Tyr126Ter Single submitter CHARGE syndrome
p.Tyr1420Cys Single submitter hypogonadotropic hypogonadism 5 with or without anosmia
p.Tyr2056Ter Single submitter
p.Tyr830fs Single submitter CHARGE syndrome
p.Val1438Gly Single submitter Inborn genetic diseases
p.Val1552Phe Single submitter
p.Val2148fs Single submitter CHD7-related disorder
p.Val2441fs Single submitter CHARGE syndrome
c.5667_5894+1del No assertion criteria CHARGE syndrome
p.Gln853fs No assertion criteria CHARGE syndrome
p.Glu970_Tyr971insTer No assertion criteria CHARGE syndrome
p.Gly1260Cys No assertion criteria CHD7-related disorder
p.Gly1684_Lys1699delinsGlu No assertion criteria CHARGE syndrome
p.Gly181fs No assertion criteria CHD7-related disorder
p.Gly2713fs No assertion criteria CHARGE syndrome
p.His237fs No assertion criteria CHARGE syndrome
p.Ile2688Arg No assertion criteria CHARGE syndrome
p.Leu911Phe No assertion criteria hypogonadotropic hypogonadism 5 with or without anosmia
p.Lys907Glu No assertion criteria CHARGE syndrome
p.Met2699fs No assertion criteria hypogonadotropic hypogonadism 5 with or without anosmia
p.Ser1406Arg No assertion criteria CHARGE syndrome
p.Ser1662fs No assertion criteria CHARGE syndrome
p.Ser2251Ter No assertion criteria CHARGE syndrome

Conflicting classifications of pathogenicity 482

Showing the top 300 by review status; the full set is in the sitemap.

c.2097-19G>A Single submitter CHARGE syndrome
c.2238+12A>G Single submitter hypogonadotropic hypogonadism 5 with or without anosmia
c.2239-16T>A Single submitter CHARGE syndrome
c.2376+19G>A Single submitter CHARGE syndrome
c.2498+3A>G Single submitter CHARGE syndrome
c.2499-20A>G Single submitter hypogonadotropic hypogonadism 5 with or without anosmia
c.2613+4C>T Single submitter hypogonadotropic hypogonadism 5 with or without anosmia
c.2613+5G>A Single submitter Childhood onset hearing loss
c.2614-7G>T Single submitter CHARGE syndrome
c.2835+8T>C Single submitter Inborn genetic diseases
c.2836-5A>G Single submitter hypogonadotropic hypogonadism 5 with or without anosmia
c.3202-7C>G Single submitter CHARGE syndrome
c.3379-5C>G Single submitter Inborn genetic diseases
c.3990-11A>T Single submitter CHARGE syndrome
c.4354-12T>G Single submitter hypogonadotropic hypogonadism 5 with or without anosmia
c.4534-13T>G Single submitter hypogonadotropic hypogonadism 5 with or without anosmia
c.4534-20C>T Single submitter CHARGE syndrome
c.4644+14C>T Single submitter CHARGE syndrome
c.4644+9_4644+10insTTG Single submitter CHARGE syndrome
c.4645-9T>C Single submitter hypogonadotropic hypogonadism 5 with or without anosmia
c.5050+5G>T Single submitter CHD7-related CHARGE syndrome
c.5051-1G>A Single submitter CHARGE syndrome ⚠
c.5210+5G>C Single submitter CHARGE syndrome
c.5535-4A>G Single submitter CHARGE syndrome
c.6103+6T>C Single submitter Inborn genetic diseases
c.6775+6G>T Single submitter hypogonadotropic hypogonadism 5 with or without anosmia
c.7830+15G>A Single submitter CHARGE syndrome
c.7971+6C>T Single submitter CHARGE syndrome
c.7971+8C>T Single submitter CHARGE syndrome
c.8076+1G>C Single submitter CHARGE syndrome ⚠
c.-15G>A Single submitter CHARGE syndrome
c.-230G>C Single submitter hypogonadotropic hypogonadism 5 with or without anosmia
c.*1116C>G Single submitter hypogonadotropic hypogonadism 5 with or without anosmia
c.*1143A>G Single submitter hypogonadotropic hypogonadism 5 with or without anosmia
c.*251T>C Single submitter hypogonadotropic hypogonadism 5 with or without anosmia
p.164_165QP[4] Single submitter CHARGE syndrome
p.Ala1236Thr Single submitter Inborn genetic diseases
p.Ala1284Thr Single submitter hypogonadotropic hypogonadism 5 with or without anosmia
p.Ala1672Val Single submitter hypogonadotropic hypogonadism 5 with or without anosmia ⚠
p.Ala173Val Single submitter CHARGE syndrome ⚠
p.Ala1757Val Single submitter CHD7-related disorder
p.Ala1764Val Single submitter hypogonadotropic hypogonadism 5 with or without anosmia
p.Ala1779Val Single submitter CHARGE syndrome
p.Ala1814= Single submitter Inborn genetic diseases
p.Ala1814Thr Single submitter Inborn genetic diseases ⚠
p.Ala1933Asp Single submitter CHARGE syndrome
p.Ala1950Thr Single submitter Inborn genetic diseases
p.Ala1953= Single submitter hypogonadotropic hypogonadism 5 with or without anosmia
p.Ala1953Val Single submitter CHARGE syndrome
p.Ala1999Thr Single submitter CHARGE syndrome
p.Ala2171= Single submitter Inborn genetic diseases
p.Ala2225Thr Single submitter CHARGE syndrome ⚠
p.Ala2259Thr Single submitter hypogonadotropic hypogonadism 5 with or without anosmia ⚠
p.Ala2274= Single submitter Inborn genetic diseases
p.Ala2391Ser Single submitter hypogonadotropic hypogonadism 5 with or without anosmia ⚠
p.Ala246Pro Single submitter CHARGE syndrome ⚠
p.Ala2477Ser Single submitter CHARGE syndrome
p.Ala2487Val Single submitter CHARGE syndrome ⚠
p.Ala2714Val Single submitter hypogonadotropic hypogonadism 5 with or without anosmia ⚠
p.Ala2726Thr Single submitter hypogonadotropic hypogonadism 5 with or without anosmia ⚠
p.Ala2730= Single submitter CHARGE syndrome
p.Ala2730Glu Single submitter CHARGE syndrome
p.Ala2730Val Single submitter CHARGE syndrome ⚠
p.Ala2731Thr Single submitter hypogonadotropic hypogonadism 5 with or without anosmia ⚠
p.Ala2733Thr Single submitter Inborn genetic diseases ⚠
p.Ala2736= Single submitter CHARGE syndrome
p.Ala2789Val Single submitter Inborn genetic diseases ⚠
p.Ala2863Asp Single submitter CHARGE syndrome ⚠
p.Ala391Gly Single submitter Inborn genetic diseases ⚠
p.Ala442= Single submitter Inborn genetic diseases
p.Ala442Thr Single submitter CHARGE syndrome ⚠
p.Ala777Val Single submitter Inborn genetic diseases ⚠
p.Ala841Thr Single submitter CHARGE syndrome
p.Ala99Pro Single submitter CHARGE syndrome ⚠
p.Ala99Val Single submitter Inborn genetic diseases ⚠
p.Arg1054Gln Single submitter hypogonadotropic hypogonadism 5 with or without anosmia
p.Arg1054Trp Single submitter CHARGE syndrome
p.Arg1100His Single submitter hypogonadotropic hypogonadism 5 with or without anosmia
p.Arg1155Cys Single submitter hypogonadotropic hypogonadism 5 with or without anosmia ⚠
p.Arg1155His Single submitter hypogonadotropic hypogonadism 5 with or without anosmia ⚠
p.Arg1317Cys Single submitter hypogonadotropic hypogonadism 5 with or without anosmia ⚠
p.Arg1330Trp Single submitter Inborn genetic diseases ⚠
p.Arg1339Gln Single submitter Inborn genetic diseases
p.Arg1345Cys Single submitter CHARGE syndrome ⚠
p.Arg1465Gln Single submitter Inborn genetic diseases
p.Arg148Lys Single submitter Inborn genetic diseases ⚠
p.Arg1494= Single submitter
p.Arg1592Trp Single submitter CHARGE syndrome
p.Arg1593His Single submitter hypogonadotropic hypogonadism 5 with or without anosmia
p.Arg1629Cys Single submitter CHARGE syndrome ⚠
p.Arg1632Cys Single submitter CHARGE syndrome
p.Arg1632His Single submitter CHARGE syndrome
p.Arg1820Gln Single submitter Inborn genetic diseases ⚠
p.Arg1912His Single submitter CHARGE syndrome ⚠
p.Arg1922His Single submitter CHARGE syndrome ⚠
p.Arg1930Lys Single submitter CHARGE syndrome
p.Arg1939Gln Single submitter CHARGE syndrome
p.Arg1942Trp Single submitter Inborn genetic diseases
p.Arg1943Gln Single submitter hypogonadotropic hypogonadism 5 with or without anosmia
p.Arg1945= Single submitter CHARGE syndrome
p.Arg1945Gln Single submitter CHD7-related disorder
p.Arg195Cys Single submitter Inborn genetic diseases
p.Arg1963Trp Single submitter Inborn genetic diseases
p.Arg1976His Single submitter Inborn genetic diseases ⚠
p.Arg2062Trp Single submitter hypogonadotropic hypogonadism 5 with or without anosmia ⚠
p.Arg2065Gly Single submitter CHARGE syndrome ⚠
p.Arg2065His Single submitter CHD7-related disorder ⚠
p.Arg2095Gln Single submitter CHARGE syndrome ⚠
p.Arg2098Gln Single submitter Inborn genetic diseases ⚠
p.Arg2284Gln Single submitter CHD7-related disorder
p.Arg2319His Single submitter CHARGE syndrome ⚠
p.Arg2337Cys Single submitter Inborn genetic diseases ⚠
p.Arg2337His Single submitter hypogonadotropic hypogonadism 5 with or without anosmia
p.Arg2361Lys Single submitter Inborn genetic diseases ⚠
p.Arg2398Cys Single submitter CHARGE syndrome
p.Arg2405del Single submitter CHARGE syndrome
p.Arg2417Met Single submitter CHARGE syndrome ⚠
p.Arg2418Gln Single submitter Inborn genetic diseases ⚠
p.Arg2428Gln Single submitter Inborn genetic diseases ⚠
p.Arg2449Thr Single submitter Inborn genetic diseases ⚠
p.Arg2491Cys Single submitter CHARGE syndrome ⚠
p.Arg250Cys Single submitter hypogonadotropic hypogonadism 5 with or without anosmia
p.Arg2513Gln Single submitter CHARGE syndrome ⚠
p.Arg2568Trp Single submitter hypogonadotropic hypogonadism 5 with or without anosmia
p.Arg2631Gln Single submitter CHARGE syndrome ⚠
p.Arg2653Gln Single submitter CHARGE syndrome
p.Arg2702His Single submitter CHARGE syndrome
p.Arg2710Trp Single submitter CHARGE syndrome ⚠
p.Arg459Cys Single submitter hypogonadotropic hypogonadism 5 with or without anosmia ⚠
p.Arg459His Single submitter Inborn genetic diseases ⚠
p.Arg469Gly Single submitter CHARGE syndrome
p.Arg758His Single submitter CHARGE syndrome ⚠
p.Arg886Gln Single submitter CHARGE syndrome ⚠
p.Arg886Trp Single submitter CHARGE syndrome ⚠
p.Arg897Trp Single submitter Inborn genetic diseases
p.Arg944Cys Single submitter hypogonadotropic hypogonadism 5 with or without anosmia ⚠
p.Arg947= Single submitter Inborn genetic diseases
p.Arg947Gln Single submitter hypogonadotropic hypogonadism 5 with or without anosmia ⚠
p.Arg987Gln Single submitter CHARGE syndrome
p.Asn1343Ser Single submitter hypogonadotropic hypogonadism 5 with or without anosmia
p.Asn224Ser Single submitter CHARGE syndrome ⚠
p.Asn2273Asp Single submitter CHARGE syndrome
p.Asn2273Ser Single submitter CHARGE syndrome
p.Asn2322Ser Single submitter Inborn genetic diseases ⚠
p.Asn2393Lys Single submitter CHARGE syndrome ⚠
p.Asn2573Ser Single submitter CHARGE syndrome ⚠
p.Asn2634Ser Single submitter CHARGE syndrome ⚠
p.Asn2651Ser Single submitter Inborn genetic diseases
p.Asn2742His Single submitter CHARGE syndrome ⚠
p.Asn2848Lys Single submitter CHARGE syndrome ⚠
p.Asn2850= Single submitter hypogonadotropic hypogonadism 5 with or without anosmia
p.Asn2891Ser Single submitter Inborn genetic diseases ⚠
p.Asn2891Thr Single submitter hypogonadotropic hypogonadism 5 with or without anosmia ⚠
p.Asn324Lys Single submitter CHARGE syndrome ⚠
p.Asn329Ser Single submitter CHARGE syndrome ⚠
p.Asn349Ser Single submitter hypogonadotropic hypogonadism 5 with or without anosmia ⚠
p.Asn429Asp Single submitter hypogonadotropic hypogonadism 5 with or without anosmia ⚠
p.Asn429His Single submitter Inborn genetic diseases ⚠
p.Asn454Ser Single submitter CHARGE syndrome ⚠
p.Asn604Lys Single submitter CHARGE syndrome
p.Asn982Ser Single submitter CHARGE syndrome
p.Asp1379Val Single submitter ⚠
p.Asp1541Asn Single submitter Inborn genetic diseases
p.Asp1578Glu Single submitter Inborn genetic diseases
p.Asp1596Gly Single submitter CHD7-related CHARGE syndrome ⚠
p.Asp1673Asn Single submitter CHARGE syndrome
p.Asp1711Asn Single submitter CHARGE syndrome
p.Asp1758Gly Single submitter CHD7-related disorder
p.Asp1770= Single submitter Inborn genetic diseases
p.Asp1866Gly Single submitter CHARGE syndrome
p.Asp1878Gly Single submitter CHARGE syndrome ⚠
p.Asp2033Gly Single submitter Inborn genetic diseases ⚠
p.Asp2038Asn Single submitter CHARGE syndrome
p.Asp2038Glu Single submitter CHARGE syndrome
p.Asp2248Glu Single submitter CHD7-related disorder
p.Asp2321= Single submitter hypogonadotropic hypogonadism 5 with or without anosmia
p.Asp2390Glu Single submitter CHARGE syndrome ⚠
p.Asp2584Glu Single submitter Inborn genetic diseases ⚠
p.Asp2852= Single submitter CHARGE syndrome
p.Asp2985Gly Single submitter Inborn genetic diseases ⚠
p.Asp726Tyr Single submitter CHARGE syndrome
p.Asp728Glu Single submitter CHARGE syndrome ⚠
p.Asp728His Single submitter Inborn genetic diseases
p.Asp740Asn Single submitter CHARGE syndrome
p.Asp740Gly Single submitter Inborn genetic diseases
p.Cys2093Tyr Single submitter CHARGE syndrome ⚠
p.Cys2207Tyr Single submitter Inborn genetic diseases ⚠
p.Gln1599Glu Single submitter CHARGE syndrome
p.Gln1991= Single submitter CHARGE syndrome
p.Gln201Arg Single submitter Inborn genetic diseases ⚠
p.Gln2067Glu Single submitter Inborn genetic diseases
p.Gln2152Glu Single submitter CHARGE syndrome ⚠
p.Gln2256Glu Single submitter hypogonadotropic hypogonadism 5 with or without anosmia
p.Gln241Arg Single submitter CHARGE syndrome ⚠
p.Gln241His Single submitter Inborn genetic diseases ⚠
p.Gln2438Glu Single submitter hypogonadotropic hypogonadism 5 with or without anosmia ⚠
p.Gln2486= Single submitter CHARGE syndrome
p.Gln2621= Single submitter CHARGE syndrome
p.Gln2762Glu Single submitter Inborn genetic diseases ⚠
p.Gln492Arg Single submitter CHARGE syndrome ⚠
p.Gln500Arg Single submitter CHARGE syndrome ⚠
p.Gln504= Single submitter CHARGE syndrome
p.Gln518His Single submitter Inborn genetic diseases
p.Gln579Glu Single submitter Inborn genetic diseases ⚠
p.Glu1268Asp Single submitter CHARGE syndrome ⚠
p.Glu1459= Single submitter CHARGE syndrome
p.Glu1789Asp Single submitter Inborn genetic diseases
p.Glu1832= Single submitter Inborn genetic diseases
p.Glu2012Lys Single submitter CHARGE syndrome
p.Glu2066Gln Single submitter CHARGE syndrome
p.Glu2172Lys Single submitter CHARGE syndrome ⚠
p.Glu2185Leu Single submitter CHARGE syndrome
p.Glu2191Lys Single submitter hypogonadotropic hypogonadism 5 with or without anosmia ⚠
p.Glu2483Lys Single submitter CHARGE syndrome
p.Glu267Gly Single submitter CHARGE syndrome ⚠
p.Glu2853Lys Single submitter Inborn genetic diseases ⚠
p.Glu2935Lys Single submitter CHARGE syndrome ⚠
p.Glu470= Single submitter hypogonadotropic hypogonadism 5 with or without anosmia
p.Glu943Lys Single submitter Inborn genetic diseases
p.Gly11= Single submitter CHARGE syndrome
p.Gly119Cys Single submitter Inborn genetic diseases ⚠
p.Gly120= Single submitter Inborn genetic diseases
p.Gly121Ser Single submitter Inborn genetic diseases ⚠
p.Gly1260Ser Single submitter CHARGE syndrome
p.Gly1506Ser Single submitter dilated cardiomyopathy
p.Gly1797Ala Single submitter hypogonadotropic hypogonadism 5 with or without anosmia ⚠
p.Gly1797Arg Single submitter Inborn genetic diseases ⚠
p.Gly1802Asp Single submitter hypogonadotropic hypogonadism 5 with or without anosmia ⚠
p.Gly1899= Single submitter hypogonadotropic hypogonadism 5 with or without anosmia
p.Gly2108Glu Single submitter CHD7-related CHARGE syndrome ⚠
p.Gly2149Val Single submitter hypogonadotropic hypogonadism 5 with or without anosmia ⚠
p.Gly2228Arg Single submitter Inborn genetic diseases ⚠
p.Gly2330Ala Single submitter CHARGE syndrome
p.Gly2348= Single submitter hypogonadotropic hypogonadism 5 with or without anosmia
p.Gly2348Asp Single submitter hypogonadotropic hypogonadism 5 with or without anosmia
p.Gly2370Arg Single submitter CHARGE syndrome
p.Gly2488Asp Single submitter Inborn genetic diseases ⚠
p.Gly2561Arg Single submitter Inborn genetic diseases
p.Gly2561Glu Single submitter Inborn genetic diseases
p.Gly25Arg Single submitter Inborn genetic diseases ⚠
p.Gly2706= Single submitter CHARGE syndrome
p.Gly2774= Single submitter hypogonadotropic hypogonadism 5 with or without anosmia
p.Gly2774Ser Single submitter Inborn genetic diseases
p.Gly2786Arg Single submitter Inborn genetic diseases
p.Gly2805Ser Single submitter Inborn genetic diseases
p.Gly2814Arg Single submitter CHARGE syndrome
p.Gly2825Val Single submitter Inborn genetic diseases ⚠
p.Gly2875Arg Single submitter Inborn genetic diseases ⚠
p.Gly2882Arg Single submitter CHARGE syndrome
p.Gly2915Val Single submitter hypogonadotropic hypogonadism 5 with or without anosmia
p.Gly2920Ala Single submitter Inborn genetic diseases ⚠
p.Gly2986fs Single submitter CHARGE syndrome ⚠
p.Gly441Cys Single submitter Inborn genetic diseases
p.Gly473Arg Single submitter CHARGE syndrome
p.Gly498Asp Single submitter CHARGE syndrome ⚠
p.Gly522= Single submitter hypogonadotropic hypogonadism 5 with or without anosmia
p.Gly623Trp Single submitter CHARGE syndrome
p.Gly721Asp Single submitter Inborn genetic diseases
p.Gly97Arg Single submitter Inborn genetic diseases ⚠
p.His1016Arg Single submitter hypogonadotropic hypogonadism 5 with or without anosmia
p.His102Asn Single submitter CHARGE syndrome ⚠
p.His1128Tyr Single submitter CHARGE syndrome ⚠
p.His203Arg Single submitter Inborn genetic diseases ⚠
p.His234Gln Single submitter Inborn genetic diseases ⚠
p.His257Arg Single submitter Inborn genetic diseases ⚠
p.His265Arg Single submitter hypogonadotropic hypogonadism 5 with or without anosmia ⚠
p.His368= Single submitter hypogonadotropic hypogonadism 5 with or without anosmia
p.His437Arg Single submitter CHARGE syndrome ⚠
p.His501Tyr Single submitter CHARGE syndrome ⚠
p.His524Tyr Single submitter Inborn genetic diseases ⚠
p.Ile1010Met Single submitter CHARGE syndrome
p.Ile1022Val Single submitter CHARGE syndrome
p.Ile1080Val Single submitter CHARGE syndrome ⚠
p.Ile1081Phe Single submitter Inborn genetic diseases ⚠
p.Ile1081Val Single submitter Inborn genetic diseases ⚠
p.Ile1205Val Single submitter Inborn genetic diseases
p.Ile1327Val Single submitter CHD7-related disorder
p.Ile1336= Single submitter Inborn genetic diseases
p.Ile2232Val Single submitter CHARGE syndrome ⚠
p.Ile2374Val Single submitter hypogonadotropic hypogonadism 5 with or without anosmia ⚠
p.Ile2380Met Single submitter CHARGE syndrome ⚠
p.Ile304Thr Single submitter CHARGE syndrome ⚠
p.Ile43Val Single submitter Inborn genetic diseases ⚠
p.Ile491Asn Single submitter CHARGE syndrome
p.Ile590Val Single submitter Inborn genetic diseases ⚠
p.Ile823Val Single submitter CHARGE syndrome ⚠
p.Ile929Met Single submitter CHARGE syndrome
p.Leu1058Phe Single submitter CHARGE syndrome
p.Leu1363His Single submitter CHARGE syndrome ⚠
p.Leu1564Pro Single submitter Inborn genetic diseases
p.Leu1579Phe Single submitter Inborn genetic diseases
p.Leu1613= Single submitter CHARGE syndrome
p.Leu1739= Single submitter CHARGE syndrome
p.Leu1794Pro Single submitter CHARGE syndrome ⚠
p.Leu2069Val Single submitter hypogonadotropic hypogonadism 5 with or without anosmia
p.Leu2085Phe Single submitter CHARGE syndrome ⚠
p.Leu2146Pro Single submitter Inborn genetic diseases ⚠
p.Leu2366Pro Single submitter CHD7-related disorder
p.Leu2524= Single submitter CHARGE syndrome
p.Leu2616= Single submitter Inborn genetic diseases

Benign 238

c.1665+34G>A Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
c.1666-147C>A Multiple submitters
c.2238+39G>A Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
c.2239-109G>A Multiple submitters
c.2376+147C>A Multiple submitters
c.2442+38A>T Multiple submitters
c.2442+93A>G Multiple submitters
c.2498+12G>T Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
c.2498+70T>A Multiple submitters
c.2614-45A>G Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
c.2614-48C>G Multiple submitters
c.2698-54A>G Multiple submitters
c.3378+208A>G Multiple submitters
c.3523-35C>G Multiple submitters
c.3523-67A>G Multiple submitters
c.3989+51C>A Multiple submitters
c.3990-81G>T Multiple submitters
c.4185+90G>C Multiple submitters
c.4354-104A>G Multiple submitters
c.4533+46A>G Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
c.4644+36C>T Multiple submitters
c.4850+102C>T Multiple submitters
c.4850+76A>G Multiple submitters
c.5535-68T>C Multiple submitters
c.5665+198A>G Multiple submitters
c.5666-189G>T Multiple submitters
c.5894+32C>G Multiple submitters
c.5895-78G>A Multiple submitters
c.6103+8C>T Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
c.7608+68G>A Multiple submitters
c.7609-57C>A Multiple submitters
c.-380C>T Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
p.Ala1769= Multiple submitters Inborn genetic diseases
p.Glu2092= Multiple submitters Inborn genetic diseases
p.Glu2246= Multiple submitters Inborn genetic diseases
p.Pro2037= Multiple submitters Inborn genetic diseases
c.1665+130T>C Single submitter
c.1666-100_1666-94del Single submitter
c.2097-199G>A Single submitter
c.2239-332A>T Single submitter
c.2499-256C>G Single submitter
c.2499-258C>G Single submitter
c.2499-268C>G Single submitter
c.2499-270C>G Single submitter
c.2499-291TGTC[6] Single submitter
c.2613+213T>G Single submitter
c.2613+93T>C Single submitter
c.2614-161A>C Single submitter
c.2698-146AT[3] Single submitter
c.2698-245TA[4] Single submitter
c.2958-106C>T Single submitter
c.3201+21T>G Single submitter
c.3779-217G>A Single submitter
c.3989+34A>G Single submitter
c.3990-59del Single submitter
c.3990-59dup Single submitter
c.4185+46C>T Single submitter
c.4186-225A>G Single submitter
c.4534-294C>T Single submitter
c.4850+33T>C Single submitter
c.5051-4C>A Single submitter
c.5210+115A>G Single submitter
c.5210+129G>C Single submitter
c.5210+286G>A Single submitter
c.5210+57dup Single submitter
c.5404+41C>T Single submitter
c.5405-176C>G Single submitter
c.5666-13dup Single submitter CHARGE syndrome
c.5894+102C>G Single submitter
c.6776-237G>C Single submitter
c.6936+308G>C Single submitter
c.7609-178C>T Single submitter
c.7609-227C>T Single submitter
c.8076+146del Single submitter
c.8076+147C>A Single submitter
c.8076+163_8076+164insATCA Single submitter
c.8076+163_8076+166dup Single submitter
c.8076+168_8076+169insTCTTACATCAATACATCATT Single submitter
c.8077-60T>A Single submitter
c.-174-212C>A Single submitter
c.-174-222T>C Single submitter
c.*1189A>C Single submitter hypogonadotropic hypogonadism 5 with or without anosmia
c.*127del Single submitter
c.*1444T>G Single submitter hypogonadotropic hypogonadism 5 with or without anosmia
c.*1495C>T Single submitter hypogonadotropic hypogonadism 5 with or without anosmia
c.*1579A>G Single submitter hypogonadotropic hypogonadism 5 with or without anosmia
c.*1728T>C Single submitter hypogonadotropic hypogonadism 5 with or without anosmia
c.*1797C>T Single submitter hypogonadotropic hypogonadism 5 with or without anosmia
c.*965G>A Single submitter hypogonadotropic hypogonadism 5 with or without anosmia
c.*96C>A Single submitter hypogonadotropic hypogonadism 5 with or without anosmia
p.Ala149= Single submitter CHARGE syndrome
p.Ala1757Thr Single submitter CHARGE syndrome
p.Ala2147Thr Single submitter CHARGE syndrome
p.Ala2306= Single submitter CHARGE syndrome
p.Ala2364Ser Single submitter CHARGE syndrome
p.Ala2415Ser Single submitter CHARGE syndrome
p.Ala2770= Single submitter CHARGE syndrome
p.Ala2770Thr Single submitter CHARGE syndrome
p.Ala2789Thr Single submitter CHARGE syndrome
p.Ala2870Val Single submitter CHARGE syndrome
p.Ala688Val Single submitter CHARGE syndrome
p.Arg1367= Single submitter CHARGE syndrome
p.Arg1620Gln Single submitter CHARGE syndrome
p.Arg1942Gln Single submitter CHARGE syndrome
p.Arg1943Trp Single submitter CHARGE syndrome
p.Arg2065= Single submitter CHARGE syndrome
p.Arg2361Ser Single submitter CHARGE syndrome
p.Arg2398His Single submitter CHARGE syndrome
p.Arg2400Gln Single submitter CHARGE syndrome
p.Arg250His Single submitter CHARGE syndrome
p.Arg2531Gln Single submitter CHARGE syndrome
p.Arg2653= Single submitter CHARGE syndrome
p.Arg2671= Single submitter CHARGE syndrome
p.Arg312Gln Single submitter CHARGE syndrome
p.Arg938Lys Single submitter CHARGE syndrome
p.Asn1447= Single submitter CHARGE syndrome
p.Asn1995= Single submitter CHARGE syndrome
p.Asn2556= Single submitter CHARGE syndrome
p.Asn2854Lys Single submitter CHARGE syndrome
p.Asn2886Asp Single submitter CHARGE syndrome
p.Asn337Lys Single submitter CHARGE syndrome
p.Asp1758Asn Single submitter CHARGE syndrome
p.Asp2226Gly Single submitter CHARGE syndrome
p.Asp2281Glu Single submitter
p.Asp2668Glu Single submitter CHARGE syndrome
p.Asp2788Asn Single submitter CHARGE syndrome
p.Asp2852Asn Single submitter CHARGE syndrome
p.Asp2985Glu Single submitter CHARGE syndrome
p.Asp3Asn Single submitter CHARGE syndrome
p.Asp728Gly Single submitter CHARGE syndrome
p.Asp742Asn Single submitter CHARGE syndrome
p.Cys1716= Single submitter CHARGE syndrome
p.Gln1708Arg Single submitter CHARGE syndrome
p.Gln205= Single submitter CHARGE syndrome
p.Gln2438Arg Single submitter CHARGE syndrome
p.Gln489= Single submitter CHARGE syndrome
p.Gln499= Single submitter CHARGE syndrome
p.Gln572His Single submitter CHARGE syndrome
p.Gln972= Single submitter CHARGE syndrome
p.Glu1856= Single submitter CHARGE syndrome
p.Glu1932= Single submitter CHARGE syndrome
p.Glu2506= Single submitter CHARGE syndrome
p.Glu2960dup Single submitter
p.Glu2974Lys Single submitter CHARGE syndrome
p.Gly1232= Single submitter CHARGE syndrome
p.Gly1232Asp Single submitter CHARGE syndrome
p.Gly181Asp Single submitter CHARGE syndrome
p.Gly2149Glu Single submitter CHARGE syndrome
p.Gly2224= Single submitter CHARGE syndrome
p.Gly2224Ser Single submitter CHARGE syndrome
p.Gly2787Ser Single submitter CHARGE syndrome
p.Gly2932= Single submitter CHARGE syndrome
p.Gly360Ala Single submitter CHARGE syndrome
p.Gly416Glu Single submitter CHARGE syndrome ⚠
p.Gly446Glu Single submitter CHARGE syndrome ⚠
p.Gly451= Single submitter CHARGE syndrome
p.Gly503= Single submitter CHARGE syndrome
p.Gly97= Single submitter CHARGE syndrome
p.His182= Single submitter CHARGE syndrome
p.His2128Gln Single submitter CHARGE syndrome
p.His55Arg Single submitter CHARGE syndrome
p.Ile2162Thr Single submitter CHARGE syndrome
p.Ile2557Val Single submitter CHARGE syndrome
p.Ile2572Val Single submitter CHARGE syndrome
p.Ile2725= Single submitter CHARGE syndrome
p.Ile304Val Single submitter CHARGE syndrome
p.Ile445= Single submitter CHARGE syndrome
p.Leu2087= Single submitter CHARGE syndrome
p.Leu2125= Single submitter CHARGE syndrome
p.Leu2218Pro Single submitter CHARGE syndrome
p.Leu249= Single submitter CHARGE syndrome
p.Leu82= Single submitter CHARGE syndrome
p.Lys1505= Single submitter CHARGE syndrome
p.Lys1879= Single submitter CHARGE syndrome
p.Lys2174Arg Single submitter CHARGE syndrome
p.Lys2190= Single submitter CHARGE syndrome
p.Lys2244= Single submitter CHARGE syndrome
p.Lys2948Glu Single submitter CHARGE syndrome
p.Lys766Asn Single submitter CHARGE syndrome ⚠
p.Met1442Val Single submitter CHARGE syndrome
p.Met2482Ile Single submitter CHARGE syndrome
p.Met2527Ile Single submitter CHARGE syndrome
p.Met381Val Single submitter CHARGE syndrome
p.Met396Val Single submitter CHARGE syndrome
p.Met41Ile Single submitter CHARGE syndrome
p.Met570Val Single submitter CHARGE syndrome
p.Met6Ile Single submitter CHARGE syndrome ⚠
p.Met888Val Single submitter CHARGE syndrome
p.Phe2305Leu Single submitter CHARGE syndrome
p.Phe2307= Single submitter CHARGE syndrome
p.Phe2342Leu Single submitter CHARGE syndrome
p.Phe47Val Single submitter CHARGE syndrome
p.Phe890= Single submitter CHARGE syndrome
p.Pro1200= Single submitter CHARGE syndrome
p.Pro1278= Single submitter CHARGE syndrome
p.Pro1705Leu Single submitter CHARGE syndrome
p.Pro178Ala Single submitter CHARGE syndrome
p.Pro183Arg Single submitter CHARGE syndrome
p.Pro2045= Single submitter CHARGE syndrome
p.Pro206Thr Single submitter CHARGE syndrome
p.Pro2599= Single submitter CHARGE syndrome
p.Pro2665Ala Single submitter CHARGE syndrome
p.Pro2807= Single submitter CHARGE syndrome
p.Pro2880Ser Single submitter CHARGE syndrome
p.Pro2887Leu Single submitter CHARGE syndrome
p.Pro2946Ser Single submitter CHARGE syndrome
p.Pro348= Single submitter CHARGE syndrome
p.Pro369Ser Single submitter CHARGE syndrome
p.Pro36Ser Single submitter CHARGE syndrome
p.Pro42Ser Single submitter CHARGE syndrome
p.Pro519Ser Single submitter CHARGE syndrome
p.Pro548Ser Single submitter CHARGE syndrome
p.Pro594Ser Single submitter CHARGE syndrome
p.Ser175= Single submitter CHARGE syndrome
p.Ser175Leu Single submitter CHARGE syndrome
p.Ser2159Pro Single submitter CHARGE syndrome
p.Ser2490Leu Single submitter CHARGE syndrome
p.Ser261Phe Single submitter CHARGE syndrome
p.Ser2698= Single submitter CHARGE syndrome
p.Ser2698Leu Single submitter CHARGE syndrome
p.Ser2857= Single submitter CHARGE syndrome
p.Ser2983Leu Single submitter CHARGE syndrome
p.Ser458Cys Single submitter CHARGE syndrome
p.Ser958Arg Single submitter CHARGE syndrome
p.Thr1449Ala Single submitter CHARGE syndrome
p.Thr2140Ile Single submitter CHARGE syndrome
p.Thr2227= Single submitter CHARGE syndrome
p.Thr2227Ser Single submitter CHARGE syndrome
p.Thr229Pro Single submitter CHARGE syndrome
p.Thr2455Ala Single submitter CHARGE syndrome
p.Thr262Ala Single submitter CHARGE syndrome
p.Tyr1217= Single submitter CHARGE syndrome
p.Tyr1727= Single submitter CHARGE syndrome
p.Val1141= Single submitter CHARGE syndrome
p.Val1552= Single submitter CHARGE syndrome
p.Val1680Ala Single submitter CHARGE syndrome
p.Val344= Single submitter CHARGE syndrome
p.Val553Leu Single submitter CHARGE syndrome

Benign/Likely benign 117

c.1666-15A>G Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
c.2096+21dup Multiple submitters CHARGE syndrome
c.2376+43_2376+48dup Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
c.2377-3dup Multiple submitters CHARGE syndrome
c.2614-14del Multiple submitters
c.2835+18G>C Multiple submitters CHARGE syndrome
c.2835+24A>T Multiple submitters
c.3202-5T>C Multiple submitters CHARGE syndrome
c.3379-33A>G Multiple submitters
c.3522+13T>A Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
c.3778+17C>T Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
c.4851-31C>T Multiple submitters
c.5051-25A>G Multiple submitters
c.5051-4C>T Multiple submitters CHARGE syndrome
c.5211-18C>T Multiple submitters CHARGE syndrome
c.5300+8C>T Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
c.5665+11A>G Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
c.7165-5A>G Multiple submitters CHARGE syndrome
p.Ala1919= Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
p.Ala2160Thr Multiple submitters Inborn genetic diseases
p.Ala2680= Multiple submitters CHARGE syndrome
p.Ala2730Thr Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
p.Ala2830Thr Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
p.Ala2923= Multiple submitters Inborn genetic diseases
p.Ala2925Thr Multiple submitters CHARGE syndrome
p.Ala2930= Multiple submitters Inborn genetic diseases
p.Ala401= Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
p.Ala685_Lys686dup Multiple submitters Inborn genetic diseases
p.Ala950Thr Multiple submitters CHARGE syndrome
p.Ala99Thr Multiple submitters CHARGE syndrome
p.Arg1963Gln Multiple submitters Inborn genetic diseases
p.Arg2027Gln Multiple submitters Inborn genetic diseases
p.Arg2403= Multiple submitters Inborn genetic diseases
p.Arg2491His Multiple submitters CHARGE syndrome
p.Arg2495Ser Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
p.Arg286Gly Multiple submitters Inborn genetic diseases
p.Arg295Trp Multiple submitters CHARGE syndrome
p.Arg892His Multiple submitters CHARGE syndrome
p.Arg897Gln Multiple submitters Inborn genetic diseases
p.Arg920Trp Multiple submitters Inborn genetic diseases
p.Arg944His Multiple submitters Inborn genetic diseases
p.Asn1042= Multiple submitters CHARGE syndrome
p.Asn2118Ser Multiple submitters Inborn genetic diseases
p.Asn2808Ser Multiple submitters Inborn genetic diseases
p.Asn2826Ser Multiple submitters Inborn genetic diseases
p.Asp2197Asn Multiple submitters CHARGE syndrome
p.Asp2248= Multiple submitters CHARGE syndrome
p.Asp2856= Multiple submitters CHARGE syndrome
p.Asp728Asn Multiple submitters CHARGE syndrome
p.Gln2426= Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
p.Gln2438Pro Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
p.Gln330Glu Multiple submitters Inborn genetic diseases
p.Gln365His Multiple submitters Inborn genetic diseases
p.Glu1897Lys Multiple submitters CHARGE syndrome ⚠
p.Glu2177Lys Multiple submitters CHARGE syndrome
p.Glu930Lys Multiple submitters Inborn genetic diseases
p.Glu943= Multiple submitters Inborn genetic diseases
p.Gly117Asp Multiple submitters
p.Gly1233Ser Multiple submitters Inborn genetic diseases
p.Gly176= Multiple submitters Inborn genetic diseases
p.Gly219= Multiple submitters Inborn genetic diseases
p.Gly2220= Multiple submitters Inborn genetic diseases
p.Gly2330= Multiple submitters
p.Gly2370Ser Multiple submitters CHARGE syndrome
p.Gly2376= Multiple submitters CHARGE syndrome
p.Gly2561= Multiple submitters CHARGE syndrome
p.Gly2914Arg Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
p.Gly473= Multiple submitters Inborn genetic diseases
p.Gly522Val Multiple submitters Inborn genetic diseases
p.Gly744Ser Multiple submitters Inborn genetic diseases
p.His185Gln Multiple submitters CHARGE syndrome
p.His2161Gln Multiple submitters Inborn genetic diseases
p.Ile1001Val Multiple submitters CHARGE syndrome
p.Ile2323Val Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
p.Ile2549Thr Multiple submitters CHARGE syndrome
p.Ile491= Multiple submitters CHARGE syndrome
p.Leu1292= Multiple submitters Inborn genetic diseases
p.Leu2117Phe Multiple submitters CHARGE syndrome
p.Leu2806Val Multiple submitters Inborn genetic diseases
p.Leu2984Phe Multiple submitters Inborn genetic diseases
p.Lys2517= Multiple submitters CHARGE syndrome
p.Met2527Leu Multiple submitters Inborn genetic diseases
p.Met340Val Multiple submitters Inborn genetic diseases
p.Met475Val Multiple submitters Inborn genetic diseases
p.Phe2750Leu Multiple submitters CHARGE syndrome ⚠
p.Pro1018= Multiple submitters CHARGE syndrome
p.Pro174Leu Multiple submitters CHARGE syndrome
p.Pro2036= Multiple submitters CHARGE syndrome
p.Pro232Thr Multiple submitters Inborn genetic diseases
p.Pro239Ser Multiple submitters CHARGE syndrome
p.Pro2683Ser Multiple submitters Inborn genetic diseases
p.Pro277Leu Multiple submitters Inborn genetic diseases
p.Pro2887= Multiple submitters Inborn genetic diseases
p.Pro2900= Multiple submitters Inborn genetic diseases
p.Pro33Arg Multiple submitters CHARGE syndrome
p.Pro393= Multiple submitters CHARGE syndrome
p.Pro394Ser Multiple submitters Inborn genetic diseases
p.Pro512= Multiple submitters Inborn genetic diseases
p.Pro558Ala Multiple submitters Inborn genetic diseases
p.Pro653Leu Multiple submitters CHARGE syndrome
p.Pro671Leu Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
p.Ser103Thr Multiple submitters Inborn genetic diseases
p.Ser1074= Multiple submitters Inborn genetic diseases
p.Ser137Ala Multiple submitters CHARGE syndrome
p.Ser2231Cys Multiple submitters CHARGE syndrome
p.Ser2865= Multiple submitters Inborn genetic diseases
p.Ser343= Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
p.Ser392Phe Multiple submitters Inborn genetic diseases
p.Ser708= Multiple submitters Inborn genetic diseases
p.Thr1918= Multiple submitters Inborn genetic diseases
p.Thr2452= Multiple submitters Inborn genetic diseases
p.Thr59Ser Multiple submitters CHARGE syndrome
p.Thr894Ala Multiple submitters Inborn genetic diseases
p.Thr942Ala Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
p.Tyr72= Multiple submitters Inborn genetic diseases
p.Val110Ile Multiple submitters Inborn genetic diseases
p.Ser2041= No assertion criteria

Likely benign 1110

Showing the top 300 by review status; the full set is in the sitemap.

c.1665+10C>G Multiple submitters CHARGE syndrome
c.2096+12G>A Multiple submitters CHARGE syndrome
c.2096+23_2096+25del Multiple submitters CHARGE syndrome
c.2097-20C>T Multiple submitters CHARGE syndrome
c.2097-9G>C Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
c.2377-17C>T Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
c.2613+18A>G Multiple submitters CHARGE syndrome
c.2613+23del Multiple submitters CHARGE syndrome
c.2614-14T>C Multiple submitters CHARGE syndrome
c.2835+16T>C Multiple submitters CHARGE syndrome
c.3378+18T>C Multiple submitters CHARGE syndrome
c.3522+14C>G Multiple submitters CHARGE syndrome
c.3522+20T>C Multiple submitters CHARGE syndrome
c.3522+20T>G Multiple submitters CHARGE syndrome
c.3523-12G>A Multiple submitters CHARGE syndrome
c.3778+16T>G Multiple submitters CHARGE syndrome
c.3778+18G>A Multiple submitters CHARGE syndrome
c.3989+7A>G Multiple submitters CHARGE syndrome
c.3989+9C>T Multiple submitters CHARGE syndrome
c.4185+19C>T Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
c.4534-19G>A Multiple submitters CHARGE syndrome
c.4644+17A>G Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
c.4850+11C>T Multiple submitters CHARGE syndrome
c.4850+18C>T Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
c.4850+19G>A Multiple submitters CHARGE syndrome
c.4850+6T>A Multiple submitters Inborn genetic diseases
c.5050+17C>G Multiple submitters CHARGE syndrome
c.5051-14G>T Multiple submitters CHARGE syndrome
c.5051-4C>G Multiple submitters CHARGE syndrome
c.5210+16G>A Multiple submitters CHARGE syndrome
c.5210+16G>T Multiple submitters CHARGE syndrome
c.5210+20A>G Multiple submitters CHARGE syndrome
c.5211-16_5211-15del Multiple submitters CHARGE syndrome
c.5211-18C>G Multiple submitters CHARGE syndrome
c.5300+12C>T Multiple submitters CHARGE syndrome
c.5300+9G>A Multiple submitters CHARGE syndrome
c.5301-13T>C Multiple submitters CHARGE syndrome
c.5404+10G>A Multiple submitters CHARGE syndrome
c.5404+9C>T Multiple submitters CHARGE syndrome
c.5405-18C>T Multiple submitters CHARGE syndrome
c.5405-8C>T Multiple submitters CHARGE syndrome
c.5607+11G>A Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
c.5608-13C>G Multiple submitters CHARGE syndrome
c.5665+13A>G Multiple submitters CHARGE syndrome
c.5665+9C>T Multiple submitters CHARGE syndrome
c.5894+14A>C Multiple submitters CHARGE syndrome
c.6103+19A>G Multiple submitters CHARGE syndrome
c.6104-5T>C Multiple submitters CHARGE syndrome
c.6775+10T>C Multiple submitters CHARGE syndrome
c.6775+13C>T Multiple submitters CHARGE syndrome
c.6776-4T>G Multiple submitters Inborn genetic diseases
c.7609-4G>T Multiple submitters CHARGE syndrome
c.7831-18A>G Multiple submitters CHARGE syndrome
c.7831-3C>T Multiple submitters CHARGE syndrome
c.7971+7G>A Multiple submitters CHARGE syndrome
c.7972-10C>G Multiple submitters CHARGE syndrome
c.7972-8C>T Multiple submitters CHARGE syndrome
p.Ala1289= Multiple submitters CHARGE syndrome
p.Ala1672= Multiple submitters CHARGE syndrome
p.Ala1710= Multiple submitters CHARGE syndrome
p.Ala1720= Multiple submitters Inborn genetic diseases
p.Ala1757= Multiple submitters CHARGE syndrome
p.Ala1831= Multiple submitters CHARGE syndrome
p.Ala2132= Multiple submitters CHARGE syndrome
p.Ala2160= Multiple submitters CHARGE syndrome
p.Ala2663= Multiple submitters CHARGE syndrome
p.Ala2729= Multiple submitters Inborn genetic diseases
p.Ala2789= Multiple submitters Inborn genetic diseases
p.Ala2793Gly Multiple submitters CHARGE syndrome
p.Ala2804= Multiple submitters Inborn genetic diseases
p.Ala2870= Multiple submitters CHARGE syndrome
p.Ala350= Multiple submitters CHARGE syndrome
p.Ala797= Multiple submitters CHARGE syndrome
p.Ala841= Multiple submitters Inborn genetic diseases
p.Ala99= Multiple submitters CHARGE syndrome
p.Arg1219= Multiple submitters Inborn genetic diseases
p.Arg1677= Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
p.Arg1810Gln Multiple submitters Inborn genetic diseases
p.Arg1926= Multiple submitters CHARGE syndrome
p.Arg1955= Multiple submitters CHARGE syndrome
p.Arg295Gln Multiple submitters CHARGE syndrome
p.Arg749= Multiple submitters Inborn genetic diseases
p.Asn1237= Multiple submitters CHARGE syndrome
p.Asn1546= Multiple submitters CHARGE syndrome
p.Asn2826= Multiple submitters Inborn genetic diseases
p.Asn317= Multiple submitters CHARGE syndrome
p.Asn92= Multiple submitters CHARGE syndrome
p.Asn96= Multiple submitters Inborn genetic diseases
p.Asn982= Multiple submitters Inborn genetic diseases
p.Asp1337= Multiple submitters CHARGE syndrome
p.Asp1582= Multiple submitters Inborn genetic diseases
p.Asp1770Asn Multiple submitters CHARGE syndrome
p.Asp1844= Multiple submitters CHARGE syndrome
p.Asp2291= Multiple submitters CHARGE syndrome
p.Asp2341= Multiple submitters CHARGE syndrome
p.Asp2476= Multiple submitters CHARGE syndrome
p.Asp2862= Multiple submitters Inborn genetic diseases
p.Asp2973= Multiple submitters Inborn genetic diseases
p.Asp70His Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia ⚠
p.Asp880Val Multiple submitters CHARGE syndrome
p.Gln1453= Multiple submitters Inborn genetic diseases
p.Gln162= Multiple submitters CHARGE syndrome
p.Gln187= Multiple submitters Inborn genetic diseases
p.Gln281= Multiple submitters Inborn genetic diseases
p.Gln579= Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
p.Glu1127= Multiple submitters CHARGE syndrome
p.Glu1640= Multiple submitters Inborn genetic diseases
p.Glu2193Lys Multiple submitters CHARGE syndrome
p.Glu2408= Multiple submitters CHARGE syndrome
p.Glu2678= Multiple submitters CHARGE syndrome
p.Glu640= Multiple submitters Inborn genetic diseases
p.Glu819= Multiple submitters CHARGE syndrome
p.Gly1338= Multiple submitters CHARGE syndrome
p.Gly1600= Multiple submitters CHARGE syndrome
p.Gly1617= Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
p.Gly2075= Multiple submitters CHARGE syndrome
p.Gly2094= Multiple submitters Inborn genetic diseases
p.Gly2582= Multiple submitters CHARGE syndrome
p.Gly2787= Multiple submitters CHARGE syndrome
p.Gly2986= Multiple submitters CHARGE syndrome
p.His102= Multiple submitters CHARGE syndrome
p.His1401= Multiple submitters CHARGE syndrome
p.His1627= Multiple submitters Inborn genetic diseases
p.His56= Multiple submitters CHARGE syndrome
p.Ile1349= Multiple submitters CHARGE syndrome
p.Ile1382= Multiple submitters Inborn genetic diseases
p.Ile1553= Multiple submitters CHARGE syndrome
p.Ile2407= Multiple submitters CHARGE syndrome
p.Leu1190= Multiple submitters CHARGE syndrome
p.Leu1363= Multiple submitters Inborn genetic diseases
p.Leu1394= Multiple submitters CHARGE syndrome
p.Leu1414= Multiple submitters Inborn genetic diseases
p.Leu1434= Multiple submitters CHARGE syndrome
p.Leu1439= Multiple submitters CHARGE syndrome
p.Leu1472= Multiple submitters CHARGE syndrome
p.Leu1551= Multiple submitters Inborn genetic diseases
p.Leu1564= Multiple submitters CHARGE syndrome
p.Leu235= Multiple submitters CHARGE syndrome
p.Leu2444= Multiple submitters CHARGE syndrome
p.Leu2758= Multiple submitters CHARGE syndrome
p.Leu2909= Multiple submitters CHARGE syndrome
p.Leu2953= Multiple submitters Inborn genetic diseases
p.Leu2970= Multiple submitters CHARGE syndrome
p.Leu935Val Multiple submitters CHARGE syndrome
p.Leu98= Multiple submitters Inborn genetic diseases
p.Lys1732= Multiple submitters CHARGE syndrome
p.Lys2416= Multiple submitters CHARGE syndrome
p.Lys2510= Multiple submitters Inborn genetic diseases
p.Lys755= Multiple submitters Inborn genetic diseases
p.Lys867Arg Multiple submitters CHARGE syndrome
p.Met193Val Multiple submitters CHARGE syndrome
p.Phe1722= Multiple submitters Inborn genetic diseases
p.Pro1098= Multiple submitters CHARGE syndrome
p.Pro114= Multiple submitters CHARGE syndrome
p.Pro1255= Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
p.Pro127= Multiple submitters CHARGE syndrome
p.Pro1390= Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
p.Pro1594= Multiple submitters Inborn genetic diseases
p.Pro170= Multiple submitters Inborn genetic diseases
p.Pro170Leu Multiple submitters Inborn genetic diseases
p.Pro172Leu Multiple submitters Inborn genetic diseases
p.Pro174= Multiple submitters Inborn genetic diseases
p.Pro1855= Multiple submitters CHARGE syndrome
p.Pro1875= Multiple submitters CHARGE syndrome
p.Pro2029= Multiple submitters CHARGE syndrome
p.Pro243= Multiple submitters CHARGE syndrome
p.Pro2560= Multiple submitters CHARGE syndrome
p.Pro2797Ser Multiple submitters Inborn genetic diseases
p.Pro287= Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
p.Pro2880= Multiple submitters Inborn genetic diseases
p.Pro345= Multiple submitters CHARGE syndrome
p.Pro415= Multiple submitters Inborn genetic diseases
p.Pro421= Multiple submitters Inborn genetic diseases
p.Pro542= Multiple submitters CHARGE syndrome
p.Pro558= Multiple submitters Inborn genetic diseases
p.Pro576= Multiple submitters CHARGE syndrome
p.Pro656= Multiple submitters Inborn genetic diseases
p.Pro703= Multiple submitters CHARGE syndrome
p.Pro86= Multiple submitters Inborn genetic diseases
p.Ser2199= Multiple submitters Inborn genetic diseases
p.Ser2295= Multiple submitters Inborn genetic diseases
p.Ser2308= Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
p.Ser2373= Multiple submitters Inborn genetic diseases
p.Ser2490= Multiple submitters Inborn genetic diseases
p.Ser2839Asn Multiple submitters CHARGE syndrome
p.Ser2906= Multiple submitters Inborn genetic diseases
p.Ser372= Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
p.Ser708Asn Multiple submitters Inborn genetic diseases
p.Ser956Leu Multiple submitters Inborn genetic diseases
p.Thr107Asn Multiple submitters CHARGE syndrome
p.Thr1133= Multiple submitters CHARGE syndrome
p.Thr1227= Multiple submitters Inborn genetic diseases
p.Thr2196= Multiple submitters Inborn genetic diseases
p.Thr2532= Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
p.Thr2600= Multiple submitters Inborn genetic diseases
p.Thr2738= Multiple submitters Inborn genetic diseases
p.Thr2784= Multiple submitters CHARGE syndrome
p.Thr2917= Multiple submitters CHARGE syndrome
p.Thr513= Multiple submitters Inborn genetic diseases
p.Tyr2014= Multiple submitters CHARGE syndrome
p.Tyr881= Multiple submitters CHARGE syndrome
p.Val1738= Multiple submitters Inborn genetic diseases
p.Val2223= Multiple submitters CHARGE syndrome
p.Val2354= Multiple submitters CHARGE syndrome
p.Val2432Met Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
p.Val2571= Multiple submitters Inborn genetic diseases
p.Val2689= Multiple submitters Inborn genetic diseases
p.Val299= Multiple submitters Inborn genetic diseases
p.Val351= Multiple submitters CHARGE syndrome
p.Val351Ile Multiple submitters CHARGE syndrome
c.1665+14G>C Single submitter CHARGE syndrome
c.1665+16G>A Single submitter CHARGE syndrome
c.1665+17C>T Single submitter CHARGE syndrome
c.1665+20A>C Single submitter CHARGE syndrome
c.1665+269G>C Single submitter
c.1665+8G>T Single submitter CHARGE syndrome
c.1666-16T>C Single submitter CHARGE syndrome
c.1666-20T>C Single submitter CHARGE syndrome
c.1666-4T>A Single submitter
c.1666-5C>A Single submitter CHARGE syndrome
c.2096+10G>A Single submitter CHARGE syndrome
c.2096+11G>A Single submitter CHARGE syndrome
c.2096+49A>G Single submitter
c.2096+8G>A Single submitter CHARGE syndrome
c.2097-14A>G Single submitter CHARGE syndrome
c.2097-15del Single submitter CHARGE syndrome
c.2097-18A>G Single submitter CHARGE syndrome
c.2097-311G>A Single submitter
c.2097-5dup Single submitter CHARGE syndrome
c.2097-5T>C Single submitter CHARGE syndrome
c.2238+7C>T Single submitter CHARGE syndrome
c.2239-17T>C Single submitter CHARGE syndrome
c.2239-297C>G Single submitter
c.2239-311C>A Single submitter
c.2376+17T>C Single submitter CHARGE syndrome
c.2376+57C>A Single submitter
c.2376+8C>A Single submitter CHARGE syndrome
c.2376+8C>T Single submitter CHARGE syndrome
c.2376+9C>T Single submitter CHARGE syndrome
c.2377-13C>A Single submitter CHARGE syndrome
c.2377-16A>G Single submitter CHARGE syndrome
c.2377-6T>C Single submitter CHARGE syndrome
c.2377-8T>C Single submitter CHARGE syndrome
c.2377-8T>G Single submitter CHARGE syndrome
c.2377-9T>C Single submitter CHARGE syndrome
c.2442+10A>G Single submitter CHARGE syndrome
c.2442+11T>C Single submitter CHARGE syndrome
c.2442+12del Single submitter CHARGE syndrome
c.2442+16G>A Single submitter CHARGE syndrome
c.2442+17C>T Single submitter CHARGE syndrome
c.2442+18C>T Single submitter CHARGE syndrome
c.2442+7G>A Single submitter CHARGE syndrome
c.2443-11T>G Single submitter CHARGE syndrome
c.2443-307G>C Single submitter
c.2443-4dup Single submitter CHARGE syndrome
c.2498+14G>C Single submitter CHARGE syndrome
c.2498+15del Single submitter CHARGE syndrome
c.2498+70dup Single submitter
c.2499-10G>T Single submitter CHARGE syndrome
c.2499-17T>C Single submitter CHARGE syndrome
c.2499-18A>G Single submitter CHARGE syndrome
c.2499-19del Single submitter CHARGE syndrome
c.2499-19T>C Single submitter CHARGE syndrome
c.2499-269_2499-268insGT Single submitter
c.2499-271_2499-270insGTCTGT Single submitter
c.2499-9T>C Single submitter CHARGE syndrome
c.2613+11C>T Single submitter CHARGE syndrome
c.2613+14G>C Single submitter CHARGE syndrome
c.2613+19C>A Single submitter CHARGE syndrome
c.2613+217G>T Single submitter
c.2613+8dup Single submitter CHARGE syndrome
c.2613+9_2613+10dup Single submitter CHARGE syndrome
c.2614-11C>A Single submitter CHARGE syndrome
c.2614-11dup Single submitter CHARGE syndrome
c.2614-19T>C Single submitter CHARGE syndrome
c.2614-25_2614-4del Single submitter
c.2614-6G>A Single submitter CHARGE syndrome
c.2614-9T>C Single submitter CHARGE syndrome
c.2697+12T>C Single submitter CHARGE syndrome
c.2697+172_2697+174del Single submitter
c.2697+20A>G Single submitter CHARGE syndrome
c.2697+30G>A Single submitter
c.2697+7G>A Single submitter CHARGE syndrome
c.2698-163T>C Single submitter
c.2698-183T>G Single submitter
c.2698-19T>G Single submitter CHARGE syndrome
c.2698-9C>G Single submitter CHARGE syndrome
c.2698-9C>T Single submitter CHARGE syndrome
c.2835+13T>C Single submitter CHARGE syndrome
c.2835+18G>A Single submitter CHARGE syndrome
c.2836-10T>A Single submitter CHARGE syndrome
c.2836-13A>G Single submitter CHARGE syndrome
c.2836-16A>C Single submitter CHARGE syndrome
c.2836-16A>G Single submitter CHARGE syndrome
c.2836-20A>C Single submitter CHARGE syndrome
c.2836-20A>G Single submitter CHARGE syndrome
c.2836-29A>G Single submitter
c.2957+11C>G Single submitter CHARGE syndrome
c.2957+15T>A Single submitter CHARGE syndrome
c.2957+18T>C Single submitter CHARGE syndrome

Uncertain significance 1614

Showing the top 300 by review status; the full set is in the sitemap.

c.2238+6A>G Multiple submitters CHARGE syndrome
c.2377-3T>A Multiple submitters CHARGE syndrome
c.3202-3T>C Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
c.3990-10T>A Multiple submitters CHARGE syndrome
c.6936+6C>T Multiple submitters CHARGE syndrome
c.7164+3G>A Multiple submitters CHARGE syndrome
c.7971+6C>G Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
c.-466A>G Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
p.167PQP[1] Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
p.2760NLQ[1] Multiple submitters CHARGE syndrome
p.2760NLQ[3] Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
p.Ala1304Thr Multiple submitters Inborn genetic diseases
p.Ala1814Val Multiple submitters CHARGE syndrome
p.Ala1933Thr Multiple submitters Inborn genetic diseases
p.Ala1950Val Multiple submitters Inborn genetic diseases
p.Ala2001Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala2147Gly Multiple submitters Inborn genetic diseases ⚠
p.Ala2211Asp Multiple submitters Inborn genetic diseases ⚠
p.Ala2211Val Multiple submitters Inborn genetic diseases ⚠
p.Ala2261Val Multiple submitters Inborn genetic diseases ⚠
p.Ala2414Phe Multiple submitters CHARGE syndrome
p.Ala2487Ser Multiple submitters
p.Ala2726Val Multiple submitters Inborn genetic diseases ⚠
p.Ala2732Thr Multiple submitters CHARGE syndrome ⚠
p.Ala2780Val Multiple submitters CHARGE syndrome ⚠
p.Ala2804Val Multiple submitters CHARGE syndrome ⚠
p.Ala2923Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala2925Val Multiple submitters CHARGE syndrome ⚠
p.Ala391Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala649Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala950Val Multiple submitters CHARGE syndrome
p.Arg1053His Multiple submitters VACTERL/vater association ⚠
p.Arg1100Cys Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
p.Arg1109Gly Multiple submitters CHARGE syndrome ⚠
p.Arg1189Cys Multiple submitters ⚠
p.Arg1189His Multiple submitters CHARGE syndrome ⚠
p.Arg1219Gln Multiple submitters ⚠
p.Arg1249Gln Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia ⚠
p.Arg1249Trp Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia ⚠
p.Arg1359Lys Multiple submitters Inborn genetic diseases
p.Arg1493Cys Multiple submitters CHARGE syndrome ⚠
p.Arg1592Gln Multiple submitters Inborn genetic diseases
p.Arg1620Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg1850Gly Multiple submitters CHARGE syndrome
p.Arg1949Gly Multiple submitters Inborn genetic diseases
p.Arg1955Gly Multiple submitters CHARGE syndrome
p.Arg195His Multiple submitters CHARGE syndrome ⚠
p.Arg1976Cys Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia ⚠
p.Arg2057Cys Multiple submitters CHARGE syndrome ⚠
p.Arg2111Trp Multiple submitters Monogenic hearing loss ⚠
p.Arg2284Gly Multiple submitters CHARGE syndrome
p.Arg2400Trp Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
p.Arg2515Gly Multiple submitters CHARGE syndrome ⚠
p.Arg2555Gly Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
p.Arg2702Cys Multiple submitters CHARGE syndrome
p.Arg749Trp Multiple submitters CHARGE syndrome
p.Arg809Cys Multiple submitters CHARGE syndrome
p.Arg809His Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
p.Arg809Pro Multiple submitters CHARGE syndrome
p.Arg88Gly Multiple submitters CHARGE syndrome ⚠
p.Arg892Cys Multiple submitters CHARGE syndrome ⚠
p.Arg920Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg944Ser Multiple submitters Inborn genetic diseases
p.Asn1197Lys Multiple submitters Inborn genetic diseases ⚠
p.Asn1259Ser Multiple submitters CHARGE syndrome
p.Asn1807Ser Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
p.Asn1807Thr Multiple submitters CHARGE syndrome
p.Asn1873Asp Multiple submitters CHARGE syndrome
p.Asn2134Ser Multiple submitters CHD7-related disorder ⚠
p.Asn2144Thr Multiple submitters CHARGE syndrome ⚠
p.Asn221Asp Multiple submitters CHARGE syndrome ⚠
p.Asn2419Ser Multiple submitters CHARGE syndrome ⚠
p.Asn2436Lys Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia ⚠
p.Asn2742Ser Multiple submitters ⚠
p.Asn2808Thr Multiple submitters CHARGE syndrome ⚠
p.Asn2818dup Multiple submitters CHARGE syndrome
p.Asn2995Ser Multiple submitters CHARGE syndrome ⚠
p.Asn325His Multiple submitters CHARGE syndrome ⚠
p.Asn356Lys Multiple submitters CHARGE syndrome ⚠
p.Asn449Ser Multiple submitters CHARGE syndrome ⚠
p.Asn700Asp Multiple submitters CHARGE syndrome ⚠
p.Asn715Lys Multiple submitters Inborn genetic diseases
p.Asn965Ser Multiple submitters CHARGE syndrome
p.Asp1105Gly Multiple submitters CHARGE syndrome ⚠
p.Asp1462Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp1474Asn Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
p.Asp1709Val Multiple submitters CHARGE syndrome
p.Asp1770Tyr Multiple submitters CHARGE syndrome ⚠
p.Asp1825Glu Multiple submitters CHARGE syndrome
p.Asp1841His Multiple submitters CHARGE syndrome ⚠
p.Asp2126Val Multiple submitters CHARGE syndrome
p.Asp2240Glu Multiple submitters CHARGE syndrome
p.Asp2247Gly Multiple submitters CHARGE syndrome ⚠
p.Asp2249Glu Multiple submitters CHARGE syndrome
p.Asp2249Gly Multiple submitters CHARGE syndrome
p.Asp2281Val Multiple submitters CHARGE syndrome
p.Asp2321Glu Multiple submitters CHARGE syndrome ⚠
p.Asp2355Glu Multiple submitters CHARGE syndrome ⚠
p.Asp2443Gly Multiple submitters CHARGE syndrome
p.Asp2590Asn Multiple submitters CHARGE syndrome ⚠
p.Asp618Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp776Gly Multiple submitters CHARGE syndrome ⚠
p.Asp951Val Multiple submitters CHARGE syndrome
p.Asp993Gly Multiple submitters Inborn genetic diseases ⚠
p.Cys1115Tyr Multiple submitters Inborn genetic diseases ⚠
p.Cys1816Tyr Multiple submitters Inborn genetic diseases
p.Cys2207Arg Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia ⚠
p.Cys480Phe Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
p.Cys909Arg Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
p.Gln1002Leu Multiple submitters Inborn genetic diseases ⚠
p.Gln104Arg Multiple submitters CHARGE syndrome ⚠
p.Gln104His Multiple submitters Inborn genetic diseases ⚠
p.Gln1179Lys Multiple submitters ⚠
p.Gln1281His Multiple submitters Inborn genetic diseases
p.Gln1532Glu Multiple submitters CHARGE syndrome
p.Gln168Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln1704Leu Multiple submitters CHARGE syndrome ⚠
p.Gln171Arg Multiple submitters CHARGE syndrome ⚠
p.Gln1928His Multiple submitters CHARGE syndrome
p.Gln2205His Multiple submitters CHARGE syndrome ⚠
p.Gln2486His Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
p.Gln254Glu Multiple submitters CHARGE syndrome ⚠
p.Gln2762His Multiple submitters CHARGE syndrome
p.Gln2768His Multiple submitters Inborn genetic diseases
p.Gln489Pro Multiple submitters Inborn genetic diseases
p.Gln535His Multiple submitters CHARGE syndrome ⚠
p.Gln555Lys Multiple submitters CHARGE syndrome ⚠
p.Gln627Lys Multiple submitters CHARGE syndrome ⚠
p.Gln791His Multiple submitters CHARGE syndrome ⚠
p.Gln792Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln839Arg Multiple submitters CHARGE syndrome ⚠
p.Glu1658Gln Multiple submitters CHARGE syndrome
p.Glu1789Gly Multiple submitters CHARGE syndrome ⚠
p.Glu1856Ala Multiple submitters CHARGE syndrome
p.Glu2009Gly Multiple submitters Inborn genetic diseases ⚠
p.Glu2238Lys Multiple submitters CHD7-related disorder ⚠
p.Glu2253Val Multiple submitters Inborn genetic diseases
p.Glu2258Lys Multiple submitters CHD7-related disorder
p.Glu2506Gln Multiple submitters Inborn genetic diseases
p.Glu2960_Ser2961insLys Multiple submitters CHARGE syndrome
p.Glu771del Multiple submitters CHARGE syndrome
p.Glu822Asp Multiple submitters ⚠
p.Glu939Asp Multiple submitters CHARGE syndrome
p.Glu941_Thr942insGlu Multiple submitters CHARGE syndrome
p.Gly119Arg Multiple submitters CHARGE syndrome
p.Gly1600Ser Multiple submitters CHARGE syndrome
p.Gly1628Arg Multiple submitters CHARGE syndrome ⚠
p.Gly176Val Multiple submitters Inborn genetic diseases ⚠
p.Gly1835Arg Multiple submitters CHARGE syndrome
p.Gly1889Asp Multiple submitters Inborn genetic diseases
p.Gly2103Asp Multiple submitters CHARGE syndrome ⚠
p.Gly2136Glu Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia ⚠
p.Gly219Asp Multiple submitters CHARGE syndrome ⚠
p.Gly2437Arg Multiple submitters CHARGE syndrome ⚠
p.Gly2500Asp Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia ⚠
p.Gly2752Arg Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia ⚠
p.Gly283Ala Multiple submitters CHARGE syndrome ⚠
p.Gly2926Arg Multiple submitters Inborn genetic diseases
p.Gly2945Glu Multiple submitters CHD7-related disorder ⚠
p.Gly2978Ala Multiple submitters CHARGE syndrome ⚠
p.Gly2978Asp Multiple submitters CHARGE syndrome ⚠
p.Gly2978Val Multiple submitters CHARGE syndrome ⚠
p.Gly2986Ala Multiple submitters Inborn genetic diseases ⚠
p.Gly2986Val Multiple submitters CHARGE syndrome
p.Gly352Arg Multiple submitters CHARGE syndrome
p.Gly388Glu Multiple submitters CHARGE syndrome
p.Gly482Ala Multiple submitters CHARGE syndrome
p.Gly482Asp Multiple submitters Inborn genetic diseases
p.Gly614Cys Multiple submitters Inborn genetic diseases ⚠
p.Gly799Val Multiple submitters CHARGE syndrome
p.His182Gln Multiple submitters CHARGE syndrome
p.His541Arg Multiple submitters Inborn genetic diseases
p.His68Tyr Multiple submitters CHARGE syndrome ⚠
p.Ile1015Thr Multiple submitters CHARGE syndrome ⚠
p.Ile1015Val Multiple submitters CHARGE syndrome
p.Ile1056Phe Multiple submitters CHARGE syndrome ⚠
p.Ile1868Val Multiple submitters Inborn genetic diseases ⚠
p.Ile1959Val Multiple submitters Inborn genetic diseases ⚠
p.Ile2064Met Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
p.Ile2064Val Multiple submitters CHARGE syndrome ⚠
p.Ile2157Val Multiple submitters Inborn genetic diseases ⚠
p.Leu1041Val Multiple submitters CHARGE syndrome ⚠
p.Leu1310Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu1579Ser Multiple submitters Inborn genetic diseases
p.Leu1916Pro Multiple submitters ⚠
p.Leu2060Val Multiple submitters CHARGE syndrome ⚠
p.Leu2245Gln Multiple submitters CHARGE syndrome
p.Leu2394Phe Multiple submitters CHARGE syndrome ⚠
p.Leu2489Ile Multiple submitters CHARGE syndrome
p.Leu24Phe Multiple submitters Inborn genetic diseases
p.Leu2534Phe Multiple submitters CHARGE syndrome
p.Leu2534Ser Multiple submitters CHARGE syndrome
p.Leu2563Val Multiple submitters CHARGE syndrome ⚠
p.Leu2744Ser Multiple submitters Inborn genetic diseases
p.Leu2745Val Multiple submitters CHARGE syndrome ⚠
p.Leu2888Pro Multiple submitters Inborn genetic diseases
p.Leu2984_Gly2986del Multiple submitters CHARGE syndrome
p.Leu332Ser Multiple submitters CHARGE syndrome
p.Leu876Ile Multiple submitters CHARGE syndrome ⚠
p.Lys1116Arg Multiple submitters CHARGE syndrome ⚠
p.Lys1201Arg Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
p.Lys1965Gln Multiple submitters CHARGE syndrome
p.Lys2235Thr Multiple submitters CHARGE syndrome
p.Lys2250Arg Multiple submitters CHARGE syndrome
p.Lys2464Arg Multiple submitters CHD7-related disorder ⚠
p.Lys641Glu Multiple submitters CHARGE syndrome ⚠
p.Lys681Glu Multiple submitters Inborn genetic diseases
p.Lys691Glu Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
p.Lys712Glu Multiple submitters CHARGE syndrome
p.Lys716Ile Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
p.Lys928Glu Multiple submitters Inborn genetic diseases ⚠
p.Lys934Thr Multiple submitters Inborn genetic diseases
p.Met1124_Asp1125delinsIleTyr Multiple submitters CHARGE syndrome
p.Met1883Val Multiple submitters Inborn genetic diseases ⚠
p.Met2339Val Multiple submitters Inborn genetic diseases ⚠
p.Met2421Thr Multiple submitters Inborn genetic diseases ⚠
p.Met2658Val Multiple submitters CHARGE syndrome
p.Met2773Thr Multiple submitters CHARGE syndrome
p.Met37Thr Multiple submitters CHARGE syndrome ⚠
p.Met80Val Multiple submitters CHARGE syndrome ⚠
p.Met936Ile Multiple submitters CHARGE syndrome
p.Met986Val Multiple submitters CHARGE syndrome
p.Phe1514Cys Multiple submitters CHARGE syndrome ⚠
p.Phe1607Val Multiple submitters CHARGE syndrome ⚠
p.Phe213Ile Multiple submitters CHARGE syndrome ⚠
p.Phe2305Tyr Multiple submitters Inborn genetic diseases ⚠
p.Phe2775Leu Multiple submitters CHARGE syndrome ⚠
p.Phe2775Ser Multiple submitters CHARGE syndrome
p.Pro1066Ser Multiple submitters CHARGE syndrome
p.Pro1332Ser Multiple submitters CHARGE syndrome
p.Pro1587Leu Multiple submitters CHARGE syndrome
p.Pro1591Ser Multiple submitters CHARGE syndrome
p.Pro172_Ala173insProGlnPro Multiple submitters CHARGE syndrome
p.Pro1782Leu Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia ⚠
p.Pro1813Ser Multiple submitters CHARGE syndrome
p.Pro183Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro2045Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro2357Leu Multiple submitters CHARGE syndrome
p.Pro2468Ser Multiple submitters CHARGE syndrome ⚠
p.Pro2552Leu Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia ⚠
p.Pro2553Ser Multiple submitters CHARGE syndrome ⚠
p.Pro2743Arg Multiple submitters CHARGE syndrome ⚠
p.Pro2884Arg Multiple submitters ⚠
p.Pro2892Ala Multiple submitters CHARGE syndrome
p.Pro2946Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro354Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro409Ser Multiple submitters Inborn genetic diseases
p.Pro440Ser Multiple submitters CHD7-related disorder ⚠
p.Pro512Ala Multiple submitters CHARGE syndrome ⚠
p.Pro515Ser Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia ⚠
p.Pro515Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro516del Multiple submitters CHARGE syndrome
p.Pro516Ser Multiple submitters CHARGE syndrome ⚠
p.Pro544Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro665Arg Multiple submitters Inborn genetic diseases
p.Pro731Leu Multiple submitters Inborn genetic diseases
p.Pro733Ala Multiple submitters ⚠
p.Pro733Leu Multiple submitters CHARGE syndrome ⚠
p.Pro800Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro900Arg Multiple submitters CHARGE syndrome
p.Pro940Leu Multiple submitters CHARGE syndrome ⚠
p.Ser118_Gly120del Multiple submitters CHARGE syndrome
p.Ser141Cys Multiple submitters Inborn genetic diseases ⚠
p.Ser1443Asn Multiple submitters Inborn genetic diseases
p.Ser1502Leu Multiple submitters Inborn genetic diseases
p.Ser1566Arg Multiple submitters dystonia, early-onset, and/or spastic paraplegia
p.Ser2041Phe Multiple submitters Inborn genetic diseases ⚠
p.Ser2084Asn Multiple submitters Inborn genetic diseases
p.Ser2213Cys Multiple submitters CHARGE syndrome ⚠
p.Ser2490Pro Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
p.Ser2559Phe Multiple submitters Inborn genetic diseases
p.Ser272Arg Multiple submitters CHARGE syndrome
p.Ser2757Ile Multiple submitters Inborn genetic diseases
p.Ser293Gly Multiple submitters Inborn genetic diseases ⚠
p.Ser2956Gly Multiple submitters Inborn genetic diseases ⚠
p.Ser301Phe Multiple submitters CHARGE syndrome
p.Ser316Ile Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia
p.Ser355Leu Multiple submitters CHARGE syndrome ⚠
p.Ser357Asn Multiple submitters CHARGE syndrome ⚠
p.Ser426Asn Multiple submitters CHARGE syndrome ⚠
p.Ser699Asn Multiple submitters CHARGE syndrome
p.Ser751Asn Multiple submitters Inborn genetic diseases ⚠
p.Ser782Cys Multiple submitters Inborn genetic diseases
p.Ser808Asn Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia ⚠
p.Thr1862Ile Multiple submitters CHARGE syndrome ⚠
p.Thr1908Asn Multiple submitters Inborn genetic diseases ⚠
p.Thr229Ala Multiple submitters CHARGE syndrome ⚠
p.Thr2381Ser Multiple submitters CHARGE syndrome ⚠
p.Thr2452Lys Multiple submitters CHARGE syndrome ⚠
p.Thr2600Ala Multiple submitters CHARGE syndrome ⚠
p.Thr2686Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr2827Pro Multiple submitters CHARGE syndrome ⚠
p.Thr298Ala Multiple submitters CHARGE syndrome ⚠
p.Thr513Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr689Ala Multiple submitters CHARGE syndrome
p.Thr760Ala Multiple submitters Inborn genetic diseases
p.Thr917Met Multiple submitters CHARGE syndrome ⚠
p.Thr93Ile Multiple submitters hypogonadotropic hypogonadism 5 with or without anosmia ⚠
p.Trp1903Arg Multiple submitters Inborn genetic diseases ⚠
p.Tyr1008Cys Multiple submitters CHARGE syndrome ⚠