ALMS1 — 6971 ClinVar variants

All ClinVar germline ALMS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 3122 flagged for review →

567 Pathogenic · 109 Pathogenic/Likely pathogenic · 264 Likely pathogenic · 483 Conflicting · 80 Benign · 56 Benign/Likely benign · 2354 Likely benign · 3058 Uncertain significance

Full ALMS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 3122

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 11

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

ALMS1 p.Arg3606Trp Pathogenic/Likely pathogenic Multiple submitters
Leber congenital amaurosis
ALMS1 p.Leu2378Phe Pathogenic Multiple submitters
Alstrom syndrome
ALMS1 p.Arg255Lys Likely pathogenic Single submitter
ALMS1 p.His1155Tyr Likely pathogenic Single submitter
Alstrom syndrome
ALMS1 p.His2720Tyr Pathogenic Single submitter
cardiomyopathy
ALMS1 p.His3700Tyr Pathogenic Single submitter
ALMS1-related disorder
ALMS1 p.Pro1459Ser Likely pathogenic Single submitter
Bardet-Biedl syndrome
ALMS1 p.Ser1895Cys Likely pathogenic Single submitter
Alstrom syndrome
ALMS1 p.Ser3216Thr Likely pathogenic Single submitter
Alstrom syndrome
ALMS1 p.Val2465Leu Pathogenic Single submitter
ALMS1-related disorder
ALMS1 p.Gln1747Leu Likely pathogenic No assertion criteria
Alstrom syndrome

Predictors agree, ClinVar conflicts 397

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification. · showing the 150 best-reviewed of 397

ALMS1 p.Ala1078Val Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Ala1280Gly Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Ala1315Val Conflicting Single submitter
Alstrom syndrome
ALMS1 p.Ala1320Gly Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Ala1410Pro Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Ala1410Val Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Ala1515Thr Conflicting Single submitter
Alstrom syndrome
ALMS1 p.Ala1584Gly Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Ala1782Val Conflicting Single submitter
Alstrom syndrome
ALMS1 p.Ala1964Asp Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Ala2175Val Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Ala2256Pro Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Ala239Val Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Ala2481Thr Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Ala2607Gly Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Ala2973Val Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Ala3245Thr Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Ala3326Pro Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Ala3409Gly Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Ala4035Thr Conflicting Single submitter
monogenic diabetes
ALMS1 p.Ala521Gly Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Ala561Thr Conflicting Single submitter
Alstrom syndrome
ALMS1 p.Ala852Val Conflicting Single submitter
Alstrom syndrome
ALMS1 p.Arg1417Gln Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Arg1417Trp Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Arg1629Gln Conflicting Single submitter
Alstrom syndrome
ALMS1 p.Arg1629Trp Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Arg1809Gly Conflicting Single submitter
Alstrom syndrome
ALMS1 p.Arg1929Trp Conflicting Single submitter
Alstrom syndrome
ALMS1 p.Arg1943Cys Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Arg1943Leu Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Arg1943Ser Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Arg2276Gln Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Arg2804His Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Arg2895His Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Arg2927Gln Conflicting Single submitter
Alstrom syndrome
ALMS1 p.Arg3180Gln Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Arg3180Gly Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Arg3225Cys Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Arg3238Cys Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Arg3257Cys Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Arg3257His Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Arg338His Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Arg3440Gly Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Arg351Gln Conflicting Single submitter
Alstrom syndrome
ALMS1 p.Arg3606Gln Conflicting Single submitter
ALMS1-related disorder
ALMS1 p.Arg3631His Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Arg3903Gln Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Arg392Ser Conflicting Single submitter
Alstrom syndrome
ALMS1 p.Arg4002Trp Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Arg4014Gln Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Arg4014Trp Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Arg4026Gly Conflicting Single submitter
Alstrom syndrome
ALMS1 p.Arg4086Gln Conflicting Single submitter
Alstrom syndrome
ALMS1 p.Arg4092His Conflicting Single submitter
Alstrom syndrome
ALMS1 p.Arg4121Gln Conflicting Single submitter
Monogenic hearing loss
ALMS1 p.Arg449Gly Conflicting Single submitter
Alstrom syndrome
ALMS1 p.Arg680Gly Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Arg719Lys Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Asn125Ser Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Asn1766Ser Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Asn2055Ser Conflicting Single submitter
Alstrom syndrome
ALMS1 p.Asn2779Asp Conflicting Single submitter
Alstrom syndrome
ALMS1 p.Asn2832Lys Conflicting Single submitter
Alstrom syndrome
ALMS1 p.Asn3009Ser Conflicting Single submitter
Alstrom syndrome
ALMS1 p.Asn3017Ser Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Asn3452Asp Conflicting Single submitter
Alstrom syndrome
ALMS1 p.Asn3551Asp Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Asn3752Ser Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Asn3814Thr Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Asn3852Tyr Conflicting Single submitter
Alstrom syndrome
ALMS1 p.Asn3876Asp Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Asn3922Asp Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Asn3922Ser Conflicting Single submitter
monogenic diabetes
ALMS1 p.Asn877Asp Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Asp148Asn Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Asp1728Gly Conflicting Single submitter
ALMS1-related disorder
ALMS1 p.Asp2155Gly Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Asp2213Glu Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Asp2213Tyr Conflicting Single submitter
Alstrom syndrome
ALMS1 p.Asp2939Gly Conflicting Single submitter
Alstrom syndrome
ALMS1 p.Asp3260Ala Conflicting Single submitter
monogenic diabetes
ALMS1 p.Asp3294His Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Asp3405Val Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Asp3619Gly Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Asp38Gly Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Asp39Asn Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Asp422Glu Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Asp516Glu Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Asp751Asn Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Asp845Glu Conflicting Single submitter
Alstrom syndrome
ALMS1 p.Cys2830Ser Conflicting Single submitter
Alstrom syndrome
ALMS1 p.Cys2830Tyr Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Gln1085His Conflicting Single submitter
Alstrom syndrome
ALMS1 p.Gln1099Lys Conflicting Single submitter
Alstrom syndrome
ALMS1 p.Gln1132Arg Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Gln119Arg Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Gln1525Pro Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Gln1733Glu Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Gln1908His Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Gln2007Arg Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Gln201Glu Conflicting Single submitter
monogenic diabetes
ALMS1 p.Gln2382Arg Conflicting Single submitter
Alstrom syndrome
ALMS1 p.Gln2766Glu Conflicting Single submitter
Alstrom syndrome
ALMS1 p.Gln2941Arg Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Gln3109Glu Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Gln3581His Conflicting Single submitter
Alstrom syndrome
ALMS1 p.Gln3614His Conflicting Single submitter
Alstrom syndrome
ALMS1 p.Gln766Lys Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Gln799Arg Conflicting Single submitter
Alstrom syndrome
ALMS1 p.Gln919Pro Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Gln95Arg Conflicting Single submitter
Alstrom syndrome
ALMS1 p.Gln990Arg Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Glu1243Gln Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Glu1338Gln Conflicting Single submitter
Alstrom syndrome
ALMS1 p.Glu1356Asp Conflicting Single submitter
Alstrom syndrome
ALMS1 p.Glu1730Gly Conflicting Single submitter
Alstrom syndrome
ALMS1 p.Glu204Ala Conflicting Single submitter
monogenic diabetes
ALMS1 p.Glu2661Asp Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Glu2706Gly Conflicting Single submitter
monogenic diabetes
ALMS1 p.Glu283Gln Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Glu3223Asp Conflicting Single submitter
Alstrom syndrome
ALMS1 p.Glu3446Asp Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Glu3931Gly Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Glu3966Val Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Glu656Lys Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Glu71Lys Conflicting Single submitter
Alstrom syndrome
ALMS1 p.Glu738Lys Conflicting Single submitter
monogenic diabetes
ALMS1 p.Glu833Gly Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Glu959Lys Conflicting Single submitter
Alstrom syndrome
ALMS1 p.Gly1001Val Conflicting Single submitter
monogenic diabetes
ALMS1 p.Gly101Asp Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Gly101Ser Conflicting Single submitter
Alstrom syndrome
ALMS1 p.Gly1230Glu Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Gly1420Val Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Gly1467Val Conflicting Single submitter
monogenic diabetes
ALMS1 p.Gly1479Arg Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Gly1479Glu Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Gly1510Ser Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Gly3618Asp Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Gly4013Ser Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Gly4015Asp Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Gly4021Asp Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Gly4025Asp Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Gly428Asp Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Gly484Asp Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Gly613Asp Conflicting Single submitter
monogenic diabetes
ALMS1 p.Gly629Asp Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Gly846Arg Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.His1005Tyr Conflicting Single submitter
Cardiovascular phenotype

Predictors lean, ClinVar uncertain 2582

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 2582

ALMS1 p.Ala1022Ser Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Ala1026Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Ala1091Val Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Ala1158Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Ala1158Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Ala1168Thr Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Ala1215Val Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Ala1280Pro Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Ala1280Thr Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Ala1452Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Ala1547Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Ala1646Thr Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Ala1647Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Ala1725Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Ala1725Thr Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Ala2175Thr Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Ala2273Thr Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Ala2281Gly Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Ala2419Val Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Ala2503Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Ala2503Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Ala2624Thr Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Ala2631Val Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Ala2828Glu Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Ala32Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Ala3361Asp Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Ala3390Val Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Ala3408Val Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Ala3412Ser Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Ala35Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Ala407Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Ala731Thr Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Ala824Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Ala82Val Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Ala839Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Arg103Leu Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Arg127Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Arg144Trp Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Arg1818Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Arg1818Leu Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Arg2065Lys Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Arg2098Gly Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Arg2159Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Arg2159Ser Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Arg2204Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Arg2263Trp Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Arg2285Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Arg2285His Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Arg2345Trp Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Arg2346Lys Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Arg2360Thr Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Arg2389Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Arg2509Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Arg2509Trp Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Arg2564Trp Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Arg2588Gln Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Arg2588Trp Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Arg2614Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Arg2616Trp Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Arg2721Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Arg2885Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Arg3041Gly Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Arg3093Ile Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Arg3225Gly Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Arg3225His Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Arg3238His Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Arg338Cys Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Arg3474Cys Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Arg3478Lys Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Arg3544Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Arg3568Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Arg3608Gln Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Arg3610Gly Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Arg3658Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Arg3670Thr Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Arg3678Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Arg3678Trp Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Arg3702Gln Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Arg3738Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Arg3738Trp Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Arg3798Lys Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Arg3805Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Arg3805Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Arg3817Lys Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Arg3823Trp Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Arg3933Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Arg3933His Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Arg3933Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Arg4002Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Arg4051His Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Arg4058His Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Arg4076Gln Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Arg4084Met Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Arg4086Trp Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Arg4092Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Arg4121Trp Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Arg4148Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Asn134Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Asn1898Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Asn2084Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Asn2102His Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Asn2210Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Asn2271Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Asn2271Ser Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Asn2278Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Asn2313Asp Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Asn2485Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Asn2520Ser Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Asn2945Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Asn3136Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Asn3170Ser Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Asn319Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Asn3234Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Asn3459His Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Asn3551Ser Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Asn3574Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Asn3707His Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Asn3752His Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Asn3814Ser Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Asn3896Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Asn3951Lys Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Asn3976Lys Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Asn4091Lys Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Asn4158Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Asp1255His Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Asp1775His Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Asp1867Gly Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Asp186Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Asp186His Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Asp2006Asn Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Asp2006Gly Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Asp2064Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Asp2117Gly Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Asp2158Gly Uncertain significance Multiple submitters
ALMS1-related disorder
ALMS1 p.Asp2213His Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Asp2598Tyr Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Asp259Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Asp259Gly Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Asp259His Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Asp2677Glu Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Asp2782Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Asp2954Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Asp2992Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Asp3072His Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Asp3134Gly Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Asp3164Asn Uncertain significance Multiple submitters
ALMS1-related disorder
ALMS1 p.Asp3428Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Asp3495Asn Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Asp3513Val Uncertain significance Multiple submitters
inherited retinal dystrophy
ALMS1 p.Asp3520His Uncertain significance Multiple submitters
Alstrom syndrome

Predictors split 132

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

ALMS1 p.Arg3998Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Arg4146Trp Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Asn2533Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Asn4158Ile Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Glu4039Asp Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Glu4114Asp Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Glu4Asp Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Gly3335Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Gly3335Val Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Ile3220Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Leu4126Phe Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Lys3715Glu Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Phe1533Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Phe2548Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Phe2604Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Phe2930Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Phe4080Leu Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Pro227Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Pro3310Ser Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Pro4000Ser Uncertain significance Multiple submitters
ALMS1-related disorder
ALMS1 p.Pro4046His Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Pro4046Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Pro9Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Pro9Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Ser2468Arg Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Ser2562Arg Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Ser2714Pro Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Ser274Arg Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Ser291Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Ser3547Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Thr2713Ile Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Thr3202Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Thr3205Arg Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Thr3206Ile Likely benign Multiple submitters
Cardiovascular phenotype
ALMS1 p.Trp155Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Tyr4123Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Tyr4142Cys Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Val2483Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Val2483Met Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Val3201Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
ALMS1 p.Val3963Ala Uncertain significance Multiple submitters
Alstrom syndrome
ALMS1 p.Ala2480Val Uncertain significance Single submitter
Alstrom syndrome
ALMS1 p.Ala252Pro Uncertain significance Single submitter
Cardiovascular phenotype
ALMS1 p.Ala3307Val Uncertain significance Single submitter
Cardiovascular phenotype
ALMS1 p.Ala3633Thr Uncertain significance Single submitter
Alstrom syndrome
ALMS1 p.Ala3793Gly Uncertain significance Single submitter
Alstrom syndrome
ALMS1 p.Ala82Pro Uncertain significance Single submitter
Alstrom syndrome
ALMS1 p.Arg3789Gln Uncertain significance Single submitter
Alstrom syndrome
ALMS1 p.Arg3798Thr Uncertain significance Single submitter
Alstrom syndrome
ALMS1 p.Arg3804Thr Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Arg4002Pro Uncertain significance Single submitter
Alstrom syndrome
ALMS1 p.Arg4058Leu Uncertain significance Single submitter
Alstrom syndrome
ALMS1 p.Arg462Ser Uncertain significance Single submitter
Alstrom syndrome
ALMS1 p.Asn3305Ile Uncertain significance Single submitter
ALMS1 p.Asp2536Gly Uncertain significance Single submitter
Cardiovascular phenotype
ALMS1 p.Asp3306Gly Uncertain significance Single submitter
Alstrom syndrome
ALMS1 p.Asp73Ala Uncertain significance Single submitter
Alstrom syndrome
ALMS1 p.Cys211Ser Uncertain significance Single submitter
Alstrom syndrome
ALMS1 p.Gln3203His Uncertain significance Single submitter
Alstrom syndrome
ALMS1 p.Gln4064His Uncertain significance Single submitter
Cardiovascular phenotype
ALMS1 p.Glu4128Gly Uncertain significance Single submitter
ALMS1-related disorder
ALMS1 p.Glu4128Lys Uncertain significance Single submitter
Alstrom syndrome
ALMS1 p.Gly2735Arg Uncertain significance Single submitter
Alstrom syndrome
ALMS1 p.Gly3303Glu Likely benign Single submitter
ALMS1 p.His4044Pro Uncertain significance Single submitter
Alstrom syndrome
ALMS1 p.Ile217Thr Uncertain significance Single submitter
Alstrom syndrome
ALMS1 p.Ile2405Ser Uncertain significance Single submitter
Alstrom syndrome
ALMS1 p.Ile3791Thr Uncertain significance Single submitter
Alstrom syndrome
ALMS1 p.Leu2486Pro Uncertain significance Single submitter
Alstrom syndrome
ALMS1 p.Leu2500Phe Uncertain significance Single submitter
Cardiovascular phenotype
ALMS1 p.Leu2532Phe Uncertain significance Single submitter
Cardiovascular phenotype
ALMS1 p.Leu3598Phe Uncertain significance Single submitter
Alstrom syndrome
ALMS1 p.Leu3629Phe Uncertain significance Single submitter
Alstrom syndrome
ALMS1 p.Leu3636Pro Uncertain significance Single submitter
Alstrom syndrome
ALMS1 p.Leu4037Val Uncertain significance Single submitter
ALMS1 p.Leu4041Phe Uncertain significance Single submitter
Alstrom syndrome
ALMS1 p.Leu4072Ser Uncertain significance Single submitter
Alstrom syndrome
ALMS1 p.Leu6Arg Uncertain significance Single submitter
Alstrom syndrome
ALMS1 p.Lys3269Thr Uncertain significance Single submitter
Alstrom syndrome
ALMS1 p.Lys4120Asn Uncertain significance Single submitter
Alstrom syndrome
ALMS1 p.Lys4139Asn Conflicting Single submitter
Alstrom syndrome
ALMS1 p.Lys4153Ile Uncertain significance Single submitter
Cardiovascular phenotype
ALMS1 p.Met3276Ile Uncertain significance Single submitter
Alstrom syndrome
ALMS1 p.Met4115Ile Uncertain significance Single submitter
Cardiovascular phenotype
ALMS1 p.Met4115Val Uncertain significance Single submitter
Cardiovascular phenotype
ALMS1 p.Phe1333Leu Uncertain significance Single submitter
Alstrom syndrome
ALMS1 p.Phe1391Leu Conflicting Single submitter
Cardiovascular phenotype
ALMS1 p.Phe1428Leu Uncertain significance Single submitter
Alstrom syndrome
ALMS1 p.Phe1758Leu Uncertain significance Single submitter
Alstrom syndrome
ALMS1 p.Phe2286Leu Uncertain significance Single submitter
Alstrom syndrome
ALMS1 p.Phe2519Leu Uncertain significance Single submitter
ALMS1 p.Phe3192Leu Uncertain significance Single submitter
ALMS1 p.Phe3312Val Uncertain significance Single submitter
Cardiovascular phenotype
ALMS1 p.Phe3515Leu Uncertain significance Single submitter
Alstrom syndrome
ALMS1 p.Phe3867Leu Uncertain significance Single submitter
Alstrom syndrome
ALMS1 p.Phe3988Leu Uncertain significance Single submitter
Alstrom syndrome
ALMS1 p.Phe907Leu Uncertain significance Single submitter
Alstrom syndrome
ALMS1 p.Phe917Leu Uncertain significance Single submitter
Alstrom syndrome
ALMS1 p.Pro3270Ser Uncertain significance Single submitter
Alstrom syndrome
ALMS1 p.Pro3639Leu Uncertain significance Single submitter
Cardiovascular phenotype
ALMS1 p.Pro3Ser Uncertain significance Single submitter
Alstrom syndrome
ALMS1 p.Ser2455Arg Uncertain significance Single submitter
ALMS1-related disorder
ALMS1 p.Ser2581Arg Uncertain significance Single submitter
Alstrom syndrome
ALMS1 p.Ser2740Arg Uncertain significance Single submitter
Alstrom syndrome
ALMS1 p.Ser3304Cys Uncertain significance Single submitter
Alstrom syndrome
ALMS1 p.Ser3304Tyr Uncertain significance Single submitter
Alstrom syndrome
ALMS1 p.Ser3338Arg Uncertain significance Single submitter
Alstrom syndrome
ALMS1 p.Ser3780Arg Uncertain significance Single submitter
Alstrom syndrome
ALMS1 p.Ser3781Pro Uncertain significance Single submitter
Alstrom syndrome
ALMS1 p.Ser4119Cys Uncertain significance Single submitter
Cardiovascular phenotype
ALMS1 p.Ser67Arg Uncertain significance Single submitter
Alstrom syndrome
ALMS1 p.Thr3295Ile Uncertain significance Single submitter
Alstrom syndrome
ALMS1 p.Trp2643Arg Uncertain significance Single submitter
Alstrom syndrome
ALMS1 p.Trp8Arg Uncertain significance Single submitter
Alstrom syndrome
ALMS1 p.Tyr3719His Uncertain significance Single submitter
Cardiovascular phenotype
ALMS1 p.Tyr4142His Uncertain significance Single submitter
Alstrom syndrome
ALMS1 p.Tyr4152His Uncertain significance Single submitter
Cardiovascular phenotype
ALMS1 p.Val3047Gly Uncertain significance Single submitter
Alstrom syndrome
ALMS1 p.Val3316Glu Uncertain significance Single submitter
Cardiovascular phenotype
ALMS1 p.Ala2496Val Uncertain significance No assertion criteria
Alstrom syndrome
ALMS1 p.Arg3606Pro Uncertain significance No assertion criteria
Alstrom syndrome
ALMS1 p.Asp73His Uncertain significance No assertion criteria
Alstrom syndrome
ALMS1 p.Glu2504Asp Uncertain significance No assertion criteria
Alstrom syndrome
ALMS1 p.Glu3334Lys Uncertain significance No assertion criteria
Alstrom syndrome
ALMS1 p.Glu4128Val Uncertain significance No assertion criteria
ALMS1-related disorder
ALMS1 p.Leu214Arg Uncertain significance No assertion criteria
ALMS1-related disorder
ALMS1 p.Leu228Trp Uncertain significance No assertion criteria
Alstrom syndrome
ALMS1 p.Phe2662Leu Uncertain significance No assertion criteria
Alstrom syndrome
ALMS1 p.Phe2888Leu Uncertain significance No assertion criteria
Alstrom syndrome
ALMS1 p.Phe3794Leu Uncertain significance No assertion criteria
Alstrom syndrome
ALMS1 p.Pro4166Ser Uncertain significance No assertion criteria
Alstrom syndrome
ALMS1 p.Thr3205Lys Uncertain significance No assertion criteria
Alstrom syndrome

All ALMS1 variants

Pathogenic 567

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

c.10385-2A>G Multiple submitters Alstrom syndrome
c.11669-1G>A Multiple submitters Alstrom syndrome
c.11873-2A>T Multiple submitters Alstrom syndrome
p.Ala1083fs Multiple submitters Alstrom syndrome
p.Ala50fs Multiple submitters Cardiovascular phenotype
p.Arg1006fs Multiple submitters Alstrom syndrome
p.Arg1417fs Multiple submitters Alstrom syndrome
p.Arg2145Ter Multiple submitters inherited retinal dystrophy
p.Arg2276Ter Multiple submitters Alstrom syndrome
p.Arg2511Ter Multiple submitters inherited retinal dystrophy
p.Arg2669Ter Multiple submitters Alstrom syndrome
p.Arg269Ter Multiple submitters Alstrom syndrome
p.Arg2721Ter Multiple submitters Alstrom syndrome
p.Arg2885Ter Multiple submitters Alstrom syndrome
p.Arg2927Ter Multiple submitters Cardiovascular phenotype
p.Arg3180Ter Multiple submitters Alstrom syndrome
p.Arg351Ter Multiple submitters Alstrom syndrome
p.Arg3608Ter Multiple submitters Alstrom syndrome
p.Arg3610fs Multiple submitters Alstrom syndrome
p.Arg3658Ter Multiple submitters Alstrom syndrome
p.Arg3702Ter Multiple submitters Cardiovascular phenotype
p.Arg3705fs Multiple submitters Alstrom syndrome
p.Arg3804fs Multiple submitters Alstrom syndrome
p.Arg3805Ter Multiple submitters Cardiovascular phenotype
p.Arg3817fs Multiple submitters Cardiovascular phenotype
p.Arg680Ter Multiple submitters Cardiovascular phenotype
p.Asn1638fs Multiple submitters Alstrom syndrome
p.Asn3084fs Multiple submitters Alstrom syndrome
p.Asp1957fs Multiple submitters Alstrom syndrome
p.Asp3520fs Multiple submitters Alstrom syndrome
p.Asp365fs Multiple submitters Alstrom syndrome
p.Cys2725fs Multiple submitters Alstrom syndrome
p.Cys336_Asp337delinsTer Multiple submitters Cardiovascular phenotype
p.Gln1156Ter Multiple submitters Alstrom syndrome
p.Gln1251Ter Multiple submitters Alstrom syndrome
p.Gln1299Ter Multiple submitters Alstrom syndrome
p.Gln1630Ter Multiple submitters Alstrom syndrome
p.Gln1733fs Multiple submitters Alstrom syndrome
p.Gln2182Ter Multiple submitters Alstrom syndrome
p.Gln2596Ter Multiple submitters Alstrom syndrome
p.Gln2741Ter Multiple submitters Alstrom syndrome
p.Gln2979Ter Multiple submitters Cardiovascular phenotype
p.Gln3378fs Multiple submitters Alstrom syndrome
p.Gln3494Ter Multiple submitters inherited retinal dystrophy
p.Gln3516Ter Multiple submitters Alstrom syndrome
p.Gln3668Ter Multiple submitters Cardiovascular phenotype
p.Gln3816Ter Multiple submitters Alstrom syndrome
p.Gln4105Ter Multiple submitters Cardiovascular phenotype
p.Gln633Ter Multiple submitters cardiomyopathy
p.Gln95Ter Multiple submitters Cardiovascular phenotype
p.Glu1404Ter Multiple submitters Alstrom syndrome
p.Glu1975fs Multiple submitters Alstrom syndrome
p.Glu2434fs Multiple submitters Alstrom syndrome
p.Glu3183fs Multiple submitters Cardiovascular phenotype
p.Glu450Ter Multiple submitters retinitis pigmentosa
p.Glu527Ter Multiple submitters Alstrom syndrome
p.Gly3890fs Multiple submitters Cardiovascular phenotype
p.His1431fs Multiple submitters Cardiovascular phenotype
p.His1761fs Multiple submitters Cardiovascular phenotype
p.His3522fs Multiple submitters Alstrom syndrome
p.Ile772fs Multiple submitters Cardiovascular phenotype
p.Leu2057fs Multiple submitters Alstrom syndrome
p.Leu2378Phe Multiple submitters Alstrom syndrome ⚠
p.Leu2798fs Multiple submitters Alstrom syndrome
p.Leu3064Ter Multiple submitters Alstrom syndrome
p.Leu940Ter Multiple submitters Cardiovascular phenotype
p.Lys1244fs Multiple submitters Alstrom syndrome
p.Lys2196fs Multiple submitters Alstrom syndrome
p.Lys3512fs Multiple submitters Cardiovascular phenotype
p.Lys3557_Glu3558insTer Multiple submitters Alstrom syndrome
p.Lys600delinsArgLeuTer Multiple submitters inherited retinal dystrophy
p.Met981fs Multiple submitters Alstrom syndrome
p.Phe3794fs Multiple submitters Alstrom syndrome
p.Pro1293fs Multiple submitters Alstrom syndrome
p.Ser1004Ter Multiple submitters Alstrom syndrome
p.Ser1077Ter Multiple submitters Alstrom syndrome
p.Ser1141Ter Multiple submitters Cardiovascular phenotype
p.Ser1300Ter Multiple submitters Alstrom syndrome
p.Ser1572Ter Multiple submitters Alstrom syndrome
p.Ser2101Ter Multiple submitters Alstrom syndrome
p.Ser2190fs Multiple submitters Cardiovascular phenotype
p.Ser2478Ter Multiple submitters Alstrom syndrome
p.Ser2700fs Multiple submitters Alstrom syndrome
p.Ser3300fs Multiple submitters inherited retinal dystrophy
p.Ser3735Ter Multiple submitters inherited retinal dystrophy
p.Ser3872fs Multiple submitters inherited retinal dystrophy
p.Ser3960fs Multiple submitters Alstrom syndrome
p.Ser403Ter Multiple submitters Alstrom syndrome
p.Ser451Ter Multiple submitters Cardiovascular phenotype
p.Ser576Ter Multiple submitters Alstrom syndrome
p.Ser615Ter Multiple submitters Alstrom syndrome
p.Ser713fs Multiple submitters Alstrom syndrome
p.Ser744Ter Multiple submitters Alstrom syndrome
p.Ser765fs Multiple submitters Alstrom syndrome
p.Ser918fs Multiple submitters Alstrom syndrome
p.Thr1385fs Multiple submitters Alstrom syndrome
p.Thr1608fs Multiple submitters Alstrom syndrome
p.Thr2377fs Multiple submitters Cardiovascular phenotype
p.Thr2457_Asp2458insTer Multiple submitters inherited retinal dystrophy
p.Thr2591fs Multiple submitters Cardiovascular phenotype
p.Thr3540fs Multiple submitters Cardiovascular phenotype
p.Thr3591fs Multiple submitters retinitis pigmentosa
p.Thr399fs Multiple submitters Cardiovascular phenotype
p.Thr741fs Multiple submitters Cardiovascular phenotype
p.Trp3511Ter Multiple submitters Alstrom syndrome
p.Tyr1675Ter Multiple submitters Alstrom syndrome
p.Tyr1714Ter Multiple submitters Cardiovascular phenotype
p.Val2300fs Multiple submitters Cardiovascular phenotype
p.Val3596fs Multiple submitters Cardiovascular phenotype
c.11669-1G>C Single submitter Alstrom syndrome
c.11873-1G>C Single submitter Alstrom syndrome
c.7674+1G>A Single submitter Alstrom syndrome
c.7674+1G>T Single submitter Alstrom syndrome
c.9540-2A>G Single submitter Alstrom syndrome
p.Ala1126fs Single submitter Alstrom syndrome
p.Ala1917fs Single submitter Alstrom syndrome
p.Ala2137fs Single submitter Alstrom syndrome
p.Ala3416fs Single submitter Alstrom syndrome
p.Ala381Ter Single submitter Alstrom syndrome
p.Ala486fs Single submitter Alstrom syndrome
p.Ala792fs Single submitter Alstrom syndrome
p.Arg1100fs Single submitter Alstrom syndrome
p.Arg1186fs Single submitter Alstrom syndrome
p.Arg1943fs Single submitter Alstrom syndrome
p.Arg2159fs Single submitter Alstrom syndrome
p.Arg2230fs Single submitter Alstrom syndrome
p.Arg2346fs Single submitter Alstrom syndrome
p.Arg2552fs Single submitter
p.Arg2814fs Single submitter Alstrom syndrome
p.Arg292fs Single submitter Alstrom syndrome
p.Arg3320fs Single submitter Alstrom syndrome
p.Arg3474fs Single submitter Alstrom syndrome
p.Arg3613fs Single submitter Alstrom syndrome
p.Arg3798fs Single submitter
p.Arg3903Ter Single submitter Alstrom syndrome
p.Arg4014fs Single submitter Alstrom syndrome
p.Arg4058_Leu4059insTer Single submitter Alstrom syndrome
p.Arg4133Ter Single submitter Alstrom syndrome
p.Arg445fs Single submitter Alstrom syndrome
p.Arg814fs Single submitter Alstrom syndrome
p.Asn2055fs Single submitter Alstrom syndrome
p.Asn3017fs Single submitter Alstrom syndrome
p.Asn3234fs Single submitter Alstrom syndrome
p.Asn3452fs Single submitter Alstrom syndrome
p.Asn3551fs Single submitter Alstrom syndrome
p.Asn3556fs Single submitter Alstrom syndrome
p.Asn379fs Single submitter Alstrom syndrome
p.Asn3896fs Single submitter Cardiovascular phenotype
p.Asn3951fs Single submitter Alstrom syndrome
p.Asp1775fs Single submitter
p.Asp181fs Single submitter Alstrom syndrome
p.Asp208fs Single submitter Alstrom syndrome
p.Asp2228fs Single submitter Alstrom syndrome
p.Asp2335fs Single submitter Alstrom syndrome
p.Asp2782fs Single submitter Alstrom syndrome
p.Asp2954fs Single submitter Alstrom syndrome
p.Asp3375fs Single submitter Alstrom syndrome
p.Asp3770fs Single submitter Alstrom syndrome
p.Asp39fs Single submitter Alstrom syndrome
p.Asp57fs Single submitter Alstrom syndrome
p.Asp827fs Single submitter Alstrom syndrome
p.Asp989fs Single submitter Alstrom syndrome
p.Cys2331Ter Single submitter Alstrom syndrome
p.Cys2395fs Single submitter
p.Cys2525fs Single submitter Cardiovascular phenotype
p.Cys2622fs Single submitter Alstrom syndrome
p.Cys2622Ter Single submitter Alstrom syndrome
p.Cys2879Ter Single submitter Alstrom syndrome
p.Cys3028fs Single submitter Alstrom syndrome
p.Cys3800Ter Single submitter Alstrom syndrome
p.Gln1038Ter Single submitter Alstrom syndrome
p.Gln1085Ter Single submitter Alstrom syndrome
p.Gln1109Ter Single submitter Alstrom syndrome
p.Gln1146Ter Single submitter Alstrom syndrome
p.Gln1288delinsLeuTer Single submitter Alstrom syndrome
p.Gln1345fs Single submitter Alstrom syndrome
p.Gln1346Ter Single submitter Alstrom syndrome
p.Gln1394Ter Single submitter Alstrom syndrome
p.Gln166Ter Single submitter Alstrom syndrome
p.Gln1817Ter Single submitter Alstrom syndrome
p.Gln1863Ter Single submitter Alstrom syndrome
p.Gln1907Ter Single submitter Alstrom syndrome
p.Gln1908Ter Single submitter Alstrom syndrome
p.Gln1952fs Single submitter Alstrom syndrome
p.Gln1952Ter Single submitter Alstrom syndrome
p.Gln1976Ter Single submitter Alstrom syndrome
p.Gln197Ter Single submitter Alstrom syndrome
p.Gln2021Ter Single submitter Alstrom syndrome
p.Gln2041fs Single submitter Alstrom syndrome
p.Gln2177fs Single submitter Alstrom syndrome
p.Gln2296Ter Single submitter Alstrom syndrome
p.Gln2364Ter Single submitter Alstrom syndrome
p.Gln2758Ter Single submitter Alstrom syndrome
p.Gln2766fs Single submitter Alstrom syndrome
p.Gln2884fs Single submitter Cardiovascular phenotype
p.Gln2890fs Single submitter Alstrom syndrome
p.Gln2909Ter Single submitter Leber congenital amaurosis
p.Gln2953fs Single submitter Alstrom syndrome
p.Gln2989Ter Single submitter Alstrom syndrome
p.Gln3000Ter Single submitter Alstrom syndrome
p.Gln309Ter Single submitter
p.Gln3109Ter Single submitter Alstrom syndrome
p.Gln3129Ter Single submitter Alstrom syndrome
p.Gln3140fs Single submitter Alstrom syndrome
p.Gln3140Ter Single submitter Alstrom syndrome
p.Gln3148Ter Single submitter Alstrom syndrome
p.Gln3157Ter Single submitter Alstrom syndrome
p.Gln3159fs Single submitter Alstrom syndrome
p.Gln3251Ter Single submitter Alstrom syndrome
p.Gln3281Ter Single submitter Alstrom syndrome
p.Gln3355Ter Single submitter Alstrom syndrome
p.Gln3584Ter Single submitter Alstrom syndrome
p.Gln3609Ter Single submitter Alstrom syndrome
p.Gln3611fs Single submitter Alstrom syndrome
p.Gln3611Ter Single submitter Alstrom syndrome
p.Gln3612Ter Single submitter Alstrom syndrome
p.Gln3637Ter Single submitter Alstrom syndrome
p.Gln3667Ter Single submitter Alstrom syndrome
p.Gln3713Ter Single submitter Alstrom syndrome
p.Gln3724Ter Single submitter Alstrom syndrome
p.Gln3792Ter Single submitter Alstrom syndrome
p.Gln4007fs Single submitter Alstrom syndrome
p.Gln4038fs Single submitter Alstrom syndrome
p.Gln4064fs Single submitter Alstrom syndrome
p.Gln4087Ter Single submitter Alstrom syndrome
p.Gln4125Ter Single submitter Alstrom syndrome
p.Gln519fs Single submitter Cardiovascular phenotype
p.Gln532Ter Single submitter Alstrom syndrome
p.Gln586fs Single submitter Alstrom syndrome
p.Gln586Ter Single submitter Alstrom syndrome
p.Gln657Ter Single submitter Alstrom syndrome
p.Gln691Ter Single submitter Alstrom syndrome
p.Gln704Ter Single submitter Alstrom syndrome
p.Gln727Ter Single submitter Alstrom syndrome
p.Gln728Ter Single submitter Alstrom syndrome
p.Gln735Ter Single submitter Alstrom syndrome
p.Gln822Ter Single submitter Alstrom syndrome
p.Gln823Ter Single submitter Alstrom syndrome
p.Gln896fs Single submitter Alstrom syndrome
p.Gln919Ter Single submitter Alstrom syndrome
p.Gln943Ter Single submitter Alstrom syndrome
p.Gln966fs Single submitter Alstrom syndrome
p.Glu1007fs Single submitter Alstrom syndrome
p.Glu100Ter Single submitter Alstrom syndrome
p.Glu1041fs Single submitter Alstrom syndrome
p.Glu1113fs Single submitter Alstrom syndrome
p.Glu14Ter Single submitter Alstrom syndrome
p.Glu16Ter Single submitter Alstrom syndrome
p.Glu183_Val184insTer Single submitter
p.Glu183fs Single submitter retinitis pigmentosa
p.Glu183Ter Single submitter Alstrom syndrome
p.Glu1900fs Single submitter Alstrom syndrome
p.Glu1916Ter Single submitter Alstrom syndrome
p.Glu191Ter Single submitter Alstrom syndrome
p.Glu1963Ter Single submitter Alstrom syndrome
p.Glu199Ter Single submitter Alstrom syndrome
p.Glu20Ter Single submitter Alstrom syndrome
p.Glu21Ter Single submitter Alstrom syndrome
p.Glu2253Ter Single submitter Alstrom syndrome
p.Glu2463Ter Single submitter Alstrom syndrome
p.Glu2469Ter Single submitter Alstrom syndrome
p.Glu2498fs Single submitter Alstrom syndrome
p.Glu2542fs Single submitter Alstrom syndrome
p.Glu25Ter Single submitter Alstrom syndrome
p.Glu26_Glu27insTerGlu Single submitter Alstrom syndrome
p.Glu262Ter Single submitter Alstrom syndrome
p.Glu2682Ter Single submitter Alstrom syndrome
p.Glu275Ter Single submitter Alstrom syndrome
p.Glu283Ter Single submitter Alstrom syndrome
p.Glu2931Ter Single submitter Alstrom syndrome
p.Glu2Ter Single submitter Alstrom syndrome
p.Glu3082fs Single submitter Alstrom syndrome
p.Glu3207fs Single submitter Alstrom syndrome
p.Glu322Ter Single submitter
p.Glu3446fs Single submitter Alstrom syndrome
p.Glu3589fs Single submitter Alstrom syndrome
p.Glu3600fs Single submitter Alstrom syndrome
p.Glu3622fs Single submitter Alstrom syndrome
p.Glu3648Ter Single submitter Alstrom syndrome
p.Glu3683Ter Single submitter
p.Glu401fs Single submitter Alstrom syndrome
p.Glu4114fs Single submitter Alstrom syndrome
p.Glu431Ter Single submitter Alstrom syndrome
p.Glu450fs Single submitter Alstrom syndrome
p.Glu45fs Single submitter Alstrom syndrome
p.Glu596fs Single submitter Alstrom syndrome
p.Glu596Ter Single submitter Alstrom syndrome
p.Glu626fs Single submitter Alstrom syndrome
p.Glu643Ter Single submitter Alstrom syndrome
p.Glu66Ter Single submitter Alstrom syndrome
p.Glu71Ter Single submitter Alstrom syndrome
p.Glu720fs Single submitter Alstrom syndrome
p.Glu74Ter Single submitter Alstrom syndrome
p.Glu768fs Single submitter Alstrom syndrome
p.Glu832Ter Single submitter Alstrom syndrome
p.Glu912fs Single submitter Alstrom syndrome
p.Gly1176fs Single submitter Cardiovascular phenotype
p.Gly1555Ter Single submitter Alstrom syndrome
p.Gly1574fs Single submitter Alstrom syndrome
p.Gly2032Ter Single submitter Alstrom syndrome

Pathogenic/Likely pathogenic 109

c.11668+1G>T Multiple submitters Alstrom syndrome
c.12115-1G>T Multiple submitters Alstrom syndrome
c.647-2A>G Multiple submitters Alstrom syndrome
p.Ala1515fs Multiple submitters Alstrom syndrome
p.Ala3307fs Multiple submitters Alstrom syndrome
p.Arg1668fs Multiple submitters Alstrom syndrome
p.Arg1818Ter Multiple submitters Cardiovascular phenotype
p.Arg207Ter Multiple submitters Alstrom syndrome
p.Arg2319fs Multiple submitters Alstrom syndrome
p.Arg2792fs Multiple submitters Cardiovascular phenotype
p.Arg3606Trp Multiple submitters Leber congenital amaurosis ⚠
p.Arg3628Ter Multiple submitters Alstrom syndrome
p.Arg3805fs Multiple submitters Alstrom syndrome
p.Arg4051fs Multiple submitters Alstrom syndrome
p.Arg578fs Multiple submitters Alstrom syndrome
p.Asn2751fs Multiple submitters Alstrom syndrome
p.Asn3922fs Multiple submitters Alstrom syndrome
p.Asp2458fs Multiple submitters Cardiovascular phenotype
p.Asp971fs Multiple submitters Alstrom syndrome
p.Cys2277Ter Multiple submitters Alstrom syndrome
p.Cys2921Ter Multiple submitters Alstrom syndrome
p.Cys3052fs Multiple submitters Alstrom syndrome
p.Gln119Ter Multiple submitters Cardiovascular phenotype
p.Gln123Ter Multiple submitters Cardiovascular phenotype
p.Gln1440Ter Multiple submitters Alstrom syndrome
p.Gln1441Ter Multiple submitters Alstrom syndrome
p.Gln1464Ter Multiple submitters Alstrom syndrome
p.Gln160Ter Multiple submitters Alstrom syndrome
p.Gln1676Ter Multiple submitters Alstrom syndrome
p.Gln1724fs Multiple submitters Cardiovascular phenotype
p.Gln1733Ter Multiple submitters Alstrom syndrome
p.Gln1794Ter Multiple submitters Alstrom syndrome
p.Gln2107Ter Multiple submitters Alstrom syndrome
p.Gln2153Ter Multiple submitters Alstrom syndrome
p.Gln2794Ter Multiple submitters Alstrom syndrome
p.Gln3203Ter Multiple submitters Alstrom syndrome
p.Gln3378Ter Multiple submitters Alstrom syndrome
p.Gln3645Ter Multiple submitters inherited retinal dystrophy
p.Gln4069Ter Multiple submitters Alstrom syndrome
p.Gln4073Ter Multiple submitters Alstrom syndrome
p.Gln634Ter Multiple submitters inherited retinal dystrophy
p.Gln681Ter Multiple submitters Alstrom syndrome
p.Gln776Ter Multiple submitters Cardiovascular phenotype
p.Gln873Ter Multiple submitters Alstrom syndrome
p.Gln95fs Multiple submitters Alstrom syndrome
p.Gln966Ter Multiple submitters Alstrom syndrome
p.Glu11Ter Multiple submitters Alstrom syndrome
p.Glu1261Ter Multiple submitters Alstrom syndrome
p.Glu1450Ter Multiple submitters Alstrom syndrome
p.Glu1454Ter Multiple submitters Alstrom syndrome
p.Glu237Ter Multiple submitters Alstrom syndrome
p.Glu2467Ter Multiple submitters Cardiovascular phenotype
p.Glu72Ter Multiple submitters Alstrom syndrome
p.Gly1230fs Multiple submitters Cardiovascular phenotype
p.His2160fs Multiple submitters Alstrom syndrome
p.Ile900fs Multiple submitters Alstrom syndrome
p.Leu1726fs Multiple submitters Alstrom syndrome
p.Leu2266Ter Multiple submitters Alstrom syndrome
p.Leu2283fs Multiple submitters Alstrom syndrome
p.Leu54Ter Multiple submitters Alstrom syndrome
p.Lys1217Ter Multiple submitters Alstrom syndrome
p.Lys1639fs Multiple submitters Alstrom syndrome
p.Lys1874Ter Multiple submitters Alstrom syndrome
p.Lys1966Ter Multiple submitters Alstrom syndrome
p.Lys2484Ter Multiple submitters Alstrom syndrome
p.Lys2783_Glu2784insTer Multiple submitters inherited retinal dystrophy
p.Lys2892fs Multiple submitters Alstrom syndrome
p.Lys349Ter Multiple submitters Alstrom syndrome
p.Lys3807fs Multiple submitters Alstrom syndrome
p.Lys3900fs Multiple submitters inherited retinal dystrophy
p.Lys4108fs Multiple submitters Alstrom syndrome
p.Lys816fs Multiple submitters Alstrom syndrome
p.Met3937fs Multiple submitters Alstrom syndrome
p.Met463fs Multiple submitters Alstrom syndrome
p.Phe1191fs Multiple submitters Alstrom syndrome
p.Phe278fs Multiple submitters retinitis pigmentosa
p.Pro1319fs Multiple submitters Alstrom syndrome
p.Pro1821fs Multiple submitters Alstrom syndrome
p.Pro2919fs Multiple submitters Alstrom syndrome
p.Pro3130fs Multiple submitters Alstrom syndrome
p.Pro3912fs Multiple submitters Alstrom syndrome
p.Ser1240fs Multiple submitters Alstrom syndrome
p.Ser1524Ter Multiple submitters Alstrom syndrome
p.Ser189fs Multiple submitters Alstrom syndrome
p.Ser1942Ter Multiple submitters Alstrom syndrome
p.Ser1968fs Multiple submitters Alstrom syndrome
p.Ser1989Ter Multiple submitters Alstrom syndrome
p.Ser2610fs Multiple submitters Alstrom syndrome
p.Ser286Ter Multiple submitters inherited retinal dystrophy
p.Ser3325Ter Multiple submitters Alstrom syndrome
p.Ser3383fs Multiple submitters Alstrom syndrome
p.Ser909Ter Multiple submitters
p.Thr2258fs Multiple submitters Stickler syndrome
p.Thr2409fs Multiple submitters Alstrom syndrome
p.Thr264fs Multiple submitters Alstrom syndrome
p.Trp3997Ter Multiple submitters Alstrom syndrome
p.Tyr122fs Multiple submitters Alstrom syndrome
p.Tyr1297Ter Multiple submitters Alstrom syndrome
p.Tyr1334Ter Multiple submitters Alstrom syndrome
p.Tyr1581Ter Multiple submitters Alstrom syndrome
p.Tyr1759fs Multiple submitters Alstrom syndrome
p.Tyr2937Ter Multiple submitters inherited retinal dystrophy
p.Tyr3268Ter Multiple submitters Alstrom syndrome
p.Tyr726fs Multiple submitters Alstrom syndrome
p.Val2749fs Multiple submitters Alstrom syndrome
p.Val3905fs Multiple submitters Alstrom syndrome
p.Val648fs Multiple submitters Alstrom syndrome
p.Met3526fs No assertion criteria
p.Pro3421fs No assertion criteria

Likely pathogenic 264

c.10079-1G>C Multiple submitters Alstrom syndrome
c.10214-2A>G Multiple submitters Cardiovascular phenotype
c.10384+1G>A Multiple submitters Alstrom syndrome
c.11547+3A>T Multiple submitters Alstrom syndrome
c.12114+1G>A Multiple submitters Alstrom syndrome
c.12299-1G>A Multiple submitters Alstrom syndrome
c.12299-2A>G Multiple submitters Cardiovascular phenotype
c.1237+2T>C Multiple submitters Alstrom syndrome
c.1432+1G>T Multiple submitters Cardiovascular phenotype
c.1432+2_1432+15del Multiple submitters Cardiovascular phenotype
c.451-2A>G Multiple submitters Cardiovascular phenotype
c.9782-1269_9859del Multiple submitters Alstrom syndrome
c.9782-1G>A Multiple submitters Alstrom syndrome
p.Gln1099Ter Multiple submitters Alstrom syndrome
p.Gln2059Ter Multiple submitters Alstrom syndrome
p.Gln396Ter Multiple submitters Alstrom syndrome
p.Glu2706fs Multiple submitters Alstrom syndrome
p.Glu3524fs Multiple submitters Alstrom syndrome
c.10213_10213+2del Single submitter Alstrom syndrome
c.10213+1G>T Single submitter Alstrom syndrome
c.11547+1G>T Single submitter Cardiovascular phenotype
c.11547+2T>C Single submitter Alstrom syndrome
c.11548-2A>G Single submitter Alstrom syndrome
c.11548-4_11549del Single submitter Alstrom syndrome
c.11669-22_11686del Single submitter Alstrom syndrome
c.11872+2T>A Single submitter Alstrom syndrome
c.11873-3T>G Single submitter Alstrom syndrome
c.12114+1_12114+3del Single submitter Alstrom syndrome
c.12115-2A>T Single submitter Alstrom syndrome
c.12299-1del Single submitter Alstrom syndrome
c.12299-1G>C Single submitter Alstrom syndrome
c.12362+1G>A Single submitter Alstrom syndrome
c.12363-2A>C Single submitter Alstrom syndrome
c.1237+2T>G Single submitter Alstrom syndrome
c.1339-1G>C Single submitter Cardiovascular phenotype
c.1432+2T>A Single submitter Alstrom syndrome
c.1432+2T>C Single submitter Alstrom syndrome
c.1433-2A>G Single submitter Alstrom syndrome
c.450+1G>A Single submitter Alstrom syndrome
c.450+2T>C Single submitter Alstrom syndrome
c.646+2T>A Single submitter Alstrom syndrome
c.646+2T>C Single submitter Alstrom syndrome
c.647-2A>T Single submitter Alstrom syndrome
c.7540+1G>A Single submitter Alstrom syndrome
c.7540+1G>T Single submitter Alstrom syndrome
c.7540+2T>C Single submitter Alstrom syndrome
c.765-1G>C Single submitter Alstrom syndrome
c.7675-1G>A Single submitter Alstrom syndrome
c.9540-1_9540del Single submitter Alstrom syndrome
c.9781+1G>A Single submitter Alstrom syndrome
c.9781+1G>C Single submitter Alstrom syndrome
c.9782-1271_9845del Single submitter Alstrom syndrome
c.9907+1G>A Single submitter Alstrom syndrome
p.Ala252fs Single submitter Alstrom syndrome
p.Arg1290Ter Single submitter Alstrom syndrome
p.Arg1715Ter Single submitter Alstrom syndrome
p.Arg1854Ter Single submitter Alstrom syndrome
p.Arg1944Ter Single submitter Alstrom syndrome
p.Arg255Lys Single submitter ⚠
p.Arg3041Ter Single submitter Alstrom syndrome
p.Arg3478_Ser3479insTer Single submitter Alstrom syndrome
p.Arg384fs Single submitter Alstrom syndrome
p.Arg3903fs Single submitter Alstrom syndrome
p.Asn1179fs Single submitter Alstrom syndrome
p.Asn3884fs Single submitter retinitis pigmentosa
p.Asp169fs Single submitter Alstrom syndrome
p.Asp2291fs Single submitter Alstrom syndrome
p.Asp3405fs Single submitter Alstrom syndrome
p.Cys2602Ter Single submitter Alstrom syndrome
p.Cys2830Ter Single submitter Alstrom syndrome
p.Cys3028Ter Single submitter inherited retinal dystrophy
p.Cys3981Ter Single submitter Alstrom syndrome
p.Gln1099_Ile1105delinsHisLeuCysGluTer Single submitter ALMS1-related disorder
p.Gln118Ter Single submitter ALMS1-related disorder
p.Gln1288fs Single submitter Alstrom syndrome
p.Gln1747Ter Single submitter Alstrom syndrome
p.Gln1817fs Single submitter Alstrom syndrome
p.Gln2007Ter Single submitter Alstrom syndrome
p.Gln2041Ter Single submitter Alstrom syndrome
p.Gln2807fs Single submitter
p.Gln297Ter Single submitter Alstrom syndrome
p.Gln3022Ter Single submitter Alstrom syndrome
p.Gln3126Ter Single submitter
p.Gln3284Ter Single submitter Alstrom syndrome
p.Gln3878Ter Single submitter Alstrom syndrome
p.Gln406Ter Single submitter Alstrom syndrome
p.Gln4073fs Single submitter Alstrom syndrome
p.Gln63fs Single submitter Alstrom syndrome
p.Gln896Ter Single submitter Alstrom syndrome
p.Gln990Ter Single submitter Alstrom syndrome
p.Glu1260Ter Single submitter Alstrom syndrome
p.Glu1451Ter Single submitter Alstrom syndrome
p.Glu1622fs Single submitter Alstrom syndrome
p.Glu1810fs Single submitter Alstrom syndrome
p.Glu1909fs Single submitter Alstrom syndrome
p.Glu1932fs Single submitter Alstrom syndrome
p.Glu2163Ter Single submitter Alstrom syndrome
p.Glu2352Ter Single submitter Alstrom syndrome
p.Glu2593Ter Single submitter Alstrom syndrome
p.Glu2685fs Single submitter Alstrom syndrome
p.Glu2693Ter Single submitter Alstrom syndrome
p.Glu2889Ter Single submitter Alstrom syndrome
p.Glu2928Ter Single submitter Alstrom syndrome
p.Glu329fs Single submitter Alstrom syndrome
p.Glu329Ter Single submitter Alstrom syndrome
p.Glu3468Ter Single submitter Alstrom syndrome
p.Glu3600Ter Single submitter Alstrom syndrome
p.Glu3662Ter Single submitter Alstrom syndrome
p.Glu3772fs Single submitter Alstrom syndrome
p.Glu3893Ter Single submitter Alstrom syndrome
p.Glu3934fs Single submitter Alstrom syndrome
p.Glu4065Ter Single submitter Alstrom syndrome
p.Glu442Ter Single submitter Alstrom syndrome
p.Glu549Ter Single submitter Alstrom syndrome
p.Glu656Ter Single submitter Alstrom syndrome
p.Glu883fs Single submitter Alstrom syndrome
p.Gly1223Ter Single submitter Alstrom syndrome
p.Gly1318Ter Single submitter Alstrom syndrome
p.Gly1415fs Single submitter Leber congenital amaurosis
p.Gly1613fs Single submitter Alstrom syndrome
p.Gly1887fs Single submitter Alstrom syndrome
p.Gly3726fs Single submitter Alstrom syndrome
p.Gly3906_Ile3907insTer Single submitter Alstrom syndrome
p.Gly864Ter Single submitter Alstrom syndrome
p.His1155Tyr Single submitter Alstrom syndrome ⚠
p.His1163fs Single submitter Alstrom syndrome
p.His1384fs Single submitter Alstrom syndrome
p.His2513fs Single submitter Alstrom syndrome
p.His298fs Single submitter Alstrom syndrome
p.His3651fs Single submitter Alstrom syndrome
p.His3901fs Single submitter Alstrom syndrome
p.His3956fs Single submitter Alstrom syndrome
p.Ile1123fs Single submitter Alstrom syndrome
p.Ile1719fs Single submitter Alstrom syndrome
p.Leu1059Ter Single submitter Alstrom syndrome
p.Leu1116fs Single submitter Leber congenital amaurosis
p.Leu1500fs Single submitter inherited retinal dystrophy
p.Leu2633Ter Single submitter Alstrom syndrome
p.Leu2812Ter Single submitter Alstrom syndrome
p.Leu2844fs Single submitter Alstrom syndrome
p.Leu3625Ter Single submitter Alstrom syndrome
p.Leu4061Ter Single submitter Alstrom syndrome
p.Leu461Ter Single submitter Alstrom syndrome
p.Leu520Ter Single submitter Alstrom syndrome
p.Leu547_Thr548insTer Single submitter Alstrom syndrome
p.Leu778Ter Single submitter Alstrom syndrome
p.Lys1434Ter Single submitter Alstrom syndrome
p.Lys1654Ter Single submitter Alstrom syndrome
p.Lys1885Ter Single submitter Alstrom syndrome
p.Lys1977Ter Single submitter Alstrom syndrome
p.Lys1993Ter Single submitter Alstrom syndrome
p.Lys2024Ter Single submitter Alstrom syndrome
p.Lys2069Ter Single submitter Alstrom syndrome
p.Lys2304Ter Single submitter Alstrom syndrome
p.Lys3004fs Single submitter Alstrom syndrome
p.Lys3076Ter Single submitter Alstrom syndrome
p.Lys3143Ter Single submitter Alstrom syndrome
p.Lys3275Ter Single submitter Alstrom syndrome
p.Lys334Ter Single submitter Alstrom syndrome
p.Lys3430Ter Single submitter Alstrom syndrome
p.Lys3441Ter Single submitter Alstrom syndrome
p.Lys405Ter Single submitter
p.Lys446Ter Single submitter Alstrom syndrome
p.Lys553fs Single submitter Alstrom syndrome
p.Lys897Ter Single submitter Alstrom syndrome
p.Lys913fs Single submitter Alstrom syndrome
p.Met1Ile Single submitter hearing loss disorder
p.Met1Thr Single submitter Alstrom syndrome
p.Met3185fs Single submitter Alstrom syndrome
p.Phe175fs Single submitter
p.Pro1459Ser Single submitter Bardet-Biedl syndrome ⚠
p.Pro1506fs Single submitter Alstrom syndrome
p.Pro2004fs Single submitter Alstrom syndrome
p.Pro558fs Single submitter
p.Pro94fs Single submitter Alstrom syndrome
p.Ser1124fs Single submitter Alstrom syndrome
p.Ser1172fs Single submitter Alstrom syndrome
p.Ser1238fs Single submitter Alstrom syndrome
p.Ser1364fs Single submitter Alstrom syndrome
p.Ser1895Cys Single submitter Alstrom syndrome ⚠
p.Ser1968Ter Single submitter Alstrom syndrome
p.Ser198_Arg207delinsIleAspLeuTer Single submitter Alstrom syndrome
p.Ser2090fs Single submitter Alstrom syndrome
p.Ser2112fs Single submitter Alstrom syndrome
p.Ser2621Ter Single submitter Alstrom syndrome
p.Ser3216Thr Single submitter Alstrom syndrome ⚠
p.Ser3374Ter Single submitter Alstrom syndrome
p.Ser3647fs Single submitter Alstrom syndrome
p.Ser393Ter Single submitter Alstrom syndrome
p.Ser621fs Single submitter Alstrom syndrome
p.Ser670Ter Single submitter Alstrom syndrome
p.Thr1914fs Single submitter Alstrom syndrome
p.Thr3274fs Single submitter Alstrom syndrome
p.Thr376fs Single submitter Alstrom syndrome
p.Trp2515Ter Single submitter Alstrom syndrome
p.Trp3449Ter Single submitter Alstrom syndrome
p.Trp3602Ter Single submitter Alstrom syndrome
p.Trp3928Ter Single submitter Alstrom syndrome
p.Trp8Ter Single submitter Alstrom syndrome
p.Tyr1202fs Single submitter Alstrom syndrome
p.Tyr1851Ter Single submitter Alstrom syndrome
p.Tyr1988Ter Single submitter Alstrom syndrome
p.Tyr2527Ter Single submitter Alstrom syndrome
p.Tyr4152Ter Single submitter Alstrom syndrome
p.Val121fs Single submitter Alstrom syndrome
p.Val2627fs Single submitter Leber congenital amaurosis
p.Val3880fs Single submitter Alstrom syndrome
c.11547+1G>A No assertion criteria Alstrom syndrome
c.12114+1G>T No assertion criteria Alstrom syndrome
c.(12298+1_12299-1 No assertion criteria inherited retinal dystrophy
c.9539+1G>T No assertion criteria Alstrom syndrome
p.Ala1875fs No assertion criteria Alstrom syndrome
p.Ala4035fs No assertion criteria Alstrom syndrome
p.Ala931fs No assertion criteria Alstrom syndrome
p.Arg4026fs No assertion criteria Alstrom syndrome
p.Asn2485fs No assertion criteria Alstrom syndrome
p.Asp479fs No assertion criteria Alstrom syndrome
p.Gln1014fs No assertion criteria Alstrom syndrome
p.Gln1383fs No assertion criteria retinitis pigmentosa
p.Gln1747Leu No assertion criteria Alstrom syndrome ⚠
p.Gln309fs No assertion criteria Alstrom syndrome
p.Gln3516fs No assertion criteria Alstrom syndrome
p.Gln3888fs No assertion criteria ALMS1-related disorder
p.Gln416fs No assertion criteria Alstrom syndrome
p.Glu1954fs No assertion criteria Alstrom syndrome
p.Glu1963fs No assertion criteria Alstrom syndrome
p.Glu19Ter No assertion criteria ALMS1-related disorder
p.Glu3524delinsAspThrTer No assertion criteria Alstrom syndrome
p.Glu4Ter No assertion criteria Alstrom syndrome
p.Gly2192fs No assertion criteria Alstrom syndrome
p.Gly3272fs No assertion criteria Alstrom syndrome
p.Gly986fs No assertion criteria inherited retinal dystrophy
p.His1241fs No assertion criteria
p.His2523fs No assertion criteria ALMS1-related disorder
p.His910fs No assertion criteria Alstrom syndrome
p.His96fs No assertion criteria Alstrom syndrome
p.Ile257fs No assertion criteria Alstrom syndrome
p.Leu232fs No assertion criteria Alstrom syndrome
p.Leu2444fs No assertion criteria Alstrom syndrome
p.Leu313fs No assertion criteria ALMS1-related disorder
p.Lys1292fs No assertion criteria Alstrom syndrome
p.Lys1670fs No assertion criteria Alstrom syndrome
p.Lys3430fs No assertion criteria Alstrom syndrome
p.Met1_Pro3del No assertion criteria Alstrom syndrome
p.Phe2657fs No assertion criteria Alstrom syndrome
p.Phe2672fs No assertion criteria Alstrom syndrome
p.Phe4101fs No assertion criteria Alstrom syndrome
p.Pro1444fs No assertion criteria Alstrom syndrome
p.Pro3348fs No assertion criteria Alstrom syndrome
p.Pro3615fs No assertion criteria Alstrom syndrome
p.Ser1476fs No assertion criteria Alstrom syndrome
p.Ser3135fs No assertion criteria ALMS1-related disorder
p.Ser3927fs No assertion criteria ALMS1-related disorder
p.Ser99Ter No assertion criteria Alstrom syndrome
p.Thr2309fs No assertion criteria Alstrom syndrome
p.Thr3873fs No assertion criteria Alstrom syndrome
p.Trp398fs No assertion criteria Alstrom syndrome
p.Tyr1806fs No assertion criteria Alstrom syndrome
p.Tyr3605fs No assertion criteria Alstrom syndrome
p.Tyr410fs No assertion criteria Alstrom syndrome
p.Val2231fs No assertion criteria Alstrom syndrome
p.Val2465fs No assertion criteria Alstrom syndrome
p.Val2747fs No assertion criteria Alström Syndrom
p.Val711fs No assertion criteria Alstrom syndrome

Conflicting classifications of pathogenicity 483

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

c.10078+1_10078+5delinsAAAAACCCTTGCAGAATGAAAA Single submitter Alstrom syndrome
c.10078+1G>T Single submitter Alstrom syndrome
c.10079-11C>T Single submitter Alstrom syndrome
c.10079-2A>G Single submitter Alstrom syndrome
c.10213+1G>A Single submitter Cardiovascular phenotype
c.10214-5C>T Single submitter Cardiovascular phenotype
c.10385-5T>C Single submitter Alstrom syndrome
c.11548-3T>C Single submitter Cardiovascular phenotype
c.11669-2A>G Single submitter Cardiovascular phenotype
c.11872+18G>A Single submitter Alstrom syndrome
c.11873-11G>T Single submitter Alstrom syndrome
c.12299-15_12299-12del Single submitter Alstrom syndrome
c.12362+17_12362+18del Single submitter Alstrom syndrome
c.12363-12G>A Single submitter Alstrom syndrome
c.12363-5C>G Single submitter Alstrom syndrome
c.12463-11T>A Single submitter Alstrom syndrome
c.12463-14C>G Single submitter Alstrom syndrome
c.1432+4C>T Single submitter Cardiovascular phenotype
c.325-1G>A Single submitter Cardiovascular phenotype
c.7541-6C>T Single submitter Alstrom syndrome
c.765-6T>C Single submitter Alstrom syndrome
c.7675-13_7675-10del Single submitter Alstrom syndrome
c.7675-2A>G Single submitter Alstrom syndrome
c.9782-13T>G Single submitter Alstrom syndrome
c.9782-19C>A Single submitter Alstrom syndrome
c.9782-4T>C Single submitter Cardiovascular phenotype
p.Ala1078Val Single submitter Cardiovascular phenotype ⚠
p.Ala1280Gly Single submitter Cardiovascular phenotype ⚠
p.Ala1315Val Single submitter Alstrom syndrome ⚠
p.Ala1320Gly Single submitter Cardiovascular phenotype ⚠
p.Ala1410Pro Single submitter Cardiovascular phenotype ⚠
p.Ala1410Val Single submitter Cardiovascular phenotype ⚠
p.Ala1515Thr Single submitter Alstrom syndrome ⚠
p.Ala1584Gly Single submitter Cardiovascular phenotype ⚠
p.Ala1782Val Single submitter Alstrom syndrome ⚠
p.Ala1792Ile Single submitter Cardiovascular phenotype
p.Ala1964Asp Single submitter Cardiovascular phenotype ⚠
p.Ala2175Val Single submitter Cardiovascular phenotype ⚠
p.Ala2256Pro Single submitter Cardiovascular phenotype ⚠
p.Ala239Val Single submitter Cardiovascular phenotype ⚠
p.Ala2481Thr Single submitter Cardiovascular phenotype ⚠
p.Ala2607Gly Single submitter Cardiovascular phenotype ⚠
p.Ala2896= Single submitter Alstrom syndrome
p.Ala2973Val Single submitter Cardiovascular phenotype ⚠
p.Ala3245Thr Single submitter Cardiovascular phenotype ⚠
p.Ala3326Pro Single submitter Cardiovascular phenotype ⚠
p.Ala34_Ala35del Single submitter Cardiovascular phenotype
p.Ala3404= Single submitter Cardiovascular phenotype
p.Ala3409Gly Single submitter Cardiovascular phenotype ⚠
p.Ala35del Single submitter Cardiovascular phenotype
p.Ala36_Asn37insAla Single submitter Alstrom syndrome
p.Ala3889= Single submitter Alstrom syndrome
p.Ala4035Thr Single submitter monogenic diabetes ⚠
p.Ala521Gly Single submitter Cardiovascular phenotype ⚠
p.Ala561Thr Single submitter Alstrom syndrome ⚠
p.Ala852Val Single submitter Alstrom syndrome ⚠
p.Arg1417Gln Single submitter Cardiovascular phenotype ⚠
p.Arg1417Trp Single submitter Cardiovascular phenotype ⚠
p.Arg1629Gln Single submitter Alstrom syndrome ⚠
p.Arg1629Trp Single submitter Cardiovascular phenotype ⚠
p.Arg1809Gly Single submitter Alstrom syndrome ⚠
p.Arg1929Trp Single submitter Alstrom syndrome ⚠
p.Arg1943Cys Single submitter Cardiovascular phenotype ⚠
p.Arg1943Leu Single submitter Cardiovascular phenotype ⚠
p.Arg1943Ser Single submitter Cardiovascular phenotype ⚠
p.Arg2276Gln Single submitter Cardiovascular phenotype ⚠
p.Arg2804His Single submitter Cardiovascular phenotype ⚠
p.Arg2895His Single submitter Cardiovascular phenotype ⚠
p.Arg2927Gln Single submitter Alstrom syndrome ⚠
p.Arg3180Gln Single submitter Cardiovascular phenotype ⚠
p.Arg3180Gly Single submitter Cardiovascular phenotype ⚠
p.Arg3225Cys Single submitter Cardiovascular phenotype ⚠
p.Arg3238Cys Single submitter Cardiovascular phenotype ⚠
p.Arg3257Cys Single submitter Cardiovascular phenotype ⚠
p.Arg3257His Single submitter Cardiovascular phenotype ⚠
p.Arg3340= Single submitter Cardiovascular phenotype
p.Arg338His Single submitter Cardiovascular phenotype ⚠
p.Arg3440Gly Single submitter Cardiovascular phenotype ⚠
p.Arg3474His Single submitter Alstrom syndrome
p.Arg351Gln Single submitter Alstrom syndrome ⚠
p.Arg3606Gln Single submitter ALMS1-related disorder ⚠
p.Arg3631His Single submitter Cardiovascular phenotype ⚠
p.Arg3804Thr Single submitter Cardiovascular phenotype ⚠
p.Arg3903Gln Single submitter Cardiovascular phenotype ⚠
p.Arg392Ser Single submitter Alstrom syndrome ⚠
p.Arg4002Trp Single submitter Cardiovascular phenotype ⚠
p.Arg4014Gln Single submitter Cardiovascular phenotype ⚠
p.Arg4014Trp Single submitter Cardiovascular phenotype ⚠
p.Arg4026Gly Single submitter Alstrom syndrome ⚠
p.Arg4066= Single submitter Cardiovascular phenotype
p.Arg4086Gln Single submitter Alstrom syndrome ⚠
p.Arg4092His Single submitter Alstrom syndrome ⚠
p.Arg4121Gln Single submitter Monogenic hearing loss ⚠
p.Arg4146= Single submitter Cardiovascular phenotype
p.Arg4148Ter Single submitter Cardiovascular phenotype
p.Arg449Gly Single submitter Alstrom syndrome ⚠
p.Arg680Gly Single submitter Cardiovascular phenotype ⚠
p.Arg719Lys Single submitter Cardiovascular phenotype ⚠
p.Asn125Ser Single submitter Cardiovascular phenotype ⚠
p.Asn1766Ser Single submitter Cardiovascular phenotype ⚠
p.Asn2055Ser Single submitter Alstrom syndrome ⚠
p.Asn2779Asp Single submitter Alstrom syndrome ⚠
p.Asn2832Lys Single submitter Alstrom syndrome ⚠
p.Asn3009Ser Single submitter Alstrom syndrome ⚠
p.Asn3017Ser Single submitter Cardiovascular phenotype ⚠
p.Asn3452Asp Single submitter Alstrom syndrome ⚠
p.Asn3551Asp Single submitter Cardiovascular phenotype ⚠
p.Asn3752Ser Single submitter Cardiovascular phenotype ⚠
p.Asn3814Thr Single submitter Cardiovascular phenotype ⚠
p.Asn3852Tyr Single submitter Alstrom syndrome ⚠
p.Asn3876Asp Single submitter Cardiovascular phenotype ⚠
p.Asn3922Asp Single submitter Cardiovascular phenotype ⚠
p.Asn3922Ser Single submitter monogenic diabetes ⚠
p.Asn877Asp Single submitter Cardiovascular phenotype ⚠
p.Asp148Asn Single submitter Cardiovascular phenotype ⚠
p.Asp1728Gly Single submitter ALMS1-related disorder ⚠
p.Asp2155Gly Single submitter Cardiovascular phenotype ⚠
p.Asp2213Glu Single submitter Cardiovascular phenotype ⚠
p.Asp2213Tyr Single submitter Alstrom syndrome ⚠
p.Asp287= Single submitter Alstrom syndrome
p.Asp2939Gly Single submitter Alstrom syndrome ⚠
p.Asp3260Ala Single submitter monogenic diabetes ⚠
p.Asp3294His Single submitter Cardiovascular phenotype ⚠
p.Asp3405Val Single submitter Cardiovascular phenotype ⚠
p.Asp3619Gly Single submitter Cardiovascular phenotype ⚠
p.Asp38Gly Single submitter Cardiovascular phenotype ⚠
p.Asp39Asn Single submitter Cardiovascular phenotype ⚠
p.Asp422Glu Single submitter Cardiovascular phenotype ⚠
p.Asp516Glu Single submitter Cardiovascular phenotype ⚠
p.Asp69= Single submitter Cardiovascular phenotype
p.Asp751Asn Single submitter Cardiovascular phenotype ⚠
p.Asp845Glu Single submitter Alstrom syndrome ⚠
p.Cys2830Ser Single submitter Alstrom syndrome ⚠
p.Cys2830Tyr Single submitter Cardiovascular phenotype ⚠
p.Gln1085His Single submitter Alstrom syndrome ⚠
p.Gln1099Lys Single submitter Alstrom syndrome ⚠
p.Gln1132Arg Single submitter Cardiovascular phenotype ⚠
p.Gln1194= Single submitter Alstrom syndrome
p.Gln119Arg Single submitter Cardiovascular phenotype ⚠
p.Gln143Ter Single submitter ALMS1-related disorder
p.Gln1525Pro Single submitter Cardiovascular phenotype ⚠
p.Gln1733Glu Single submitter Cardiovascular phenotype ⚠
p.Gln1908His Single submitter Cardiovascular phenotype ⚠
p.Gln2007Arg Single submitter Cardiovascular phenotype ⚠
p.Gln201Glu Single submitter monogenic diabetes ⚠
p.Gln2320= Single submitter Cardiovascular phenotype
p.Gln2382Arg Single submitter Alstrom syndrome ⚠
p.Gln2766Glu Single submitter Alstrom syndrome ⚠
p.Gln2941Arg Single submitter Cardiovascular phenotype ⚠
p.Gln2968= Single submitter Alstrom syndrome
p.Gln3109Glu Single submitter Cardiovascular phenotype ⚠
p.Gln3262= Single submitter Cardiovascular phenotype
p.Gln3581His Single submitter Alstrom syndrome ⚠
p.Gln3614His Single submitter Alstrom syndrome ⚠
p.Gln728= Single submitter Cardiovascular phenotype
p.Gln766Lys Single submitter Cardiovascular phenotype ⚠
p.Gln799Arg Single submitter Alstrom syndrome ⚠
p.Gln822= Single submitter Cardiovascular phenotype
p.Gln919Pro Single submitter Cardiovascular phenotype ⚠
p.Gln95Arg Single submitter Alstrom syndrome ⚠
p.Gln990Arg Single submitter Cardiovascular phenotype ⚠
p.Glu1243Gln Single submitter Cardiovascular phenotype ⚠
p.Glu1338Gln Single submitter Alstrom syndrome ⚠
p.Glu1356Asp Single submitter Alstrom syndrome ⚠
p.Glu1730Gly Single submitter Alstrom syndrome ⚠
p.Glu19fs Single submitter Alstrom syndrome
p.Glu204Ala Single submitter monogenic diabetes ⚠
p.Glu21_Glu28dup Single submitter ALMS1-related disorder
p.Glu22_Glu29del Single submitter Alstrom syndrome
p.Glu23_Glu28del Single submitter inherited retinal dystrophy
p.Glu24_Glu28del Single submitter Cardiovascular phenotype
p.Glu2661Asp Single submitter Cardiovascular phenotype ⚠
p.Glu2693= Single submitter Cardiovascular phenotype
p.Glu2706Gly Single submitter monogenic diabetes ⚠
p.Glu283Gln Single submitter Cardiovascular phenotype ⚠
p.Glu3223Asp Single submitter Alstrom syndrome ⚠
p.Glu3446Asp Single submitter Cardiovascular phenotype ⚠
p.Glu3821= Single submitter Alstrom syndrome
p.Glu3916= Single submitter Cardiovascular phenotype
p.Glu3931Gly Single submitter Cardiovascular phenotype ⚠
p.Glu3966Val Single submitter Cardiovascular phenotype ⚠
p.Glu656Lys Single submitter Cardiovascular phenotype ⚠
p.Glu71Lys Single submitter Alstrom syndrome ⚠
p.Glu738Lys Single submitter monogenic diabetes ⚠
p.Glu833Gly Single submitter Cardiovascular phenotype ⚠
p.Glu959Lys Single submitter Alstrom syndrome ⚠
p.Gly1001Val Single submitter monogenic diabetes ⚠
p.Gly101Asp Single submitter Cardiovascular phenotype ⚠
p.Gly101Ser Single submitter Alstrom syndrome ⚠
p.Gly1230Glu Single submitter Cardiovascular phenotype ⚠
p.Gly1420Val Single submitter Cardiovascular phenotype ⚠
p.Gly1467Val Single submitter monogenic diabetes ⚠
p.Gly1479Arg Single submitter Cardiovascular phenotype ⚠
p.Gly1479Glu Single submitter Cardiovascular phenotype ⚠
p.Gly1510Ser Single submitter Cardiovascular phenotype ⚠
p.Gly1696= Single submitter Alstrom syndrome
p.Gly3618Asp Single submitter Cardiovascular phenotype ⚠
p.Gly3690= Single submitter Cardiovascular phenotype
p.Gly4013Ser Single submitter Cardiovascular phenotype ⚠
p.Gly4015Asp Single submitter Cardiovascular phenotype ⚠
p.Gly4021Asp Single submitter Cardiovascular phenotype ⚠
p.Gly4025Asp Single submitter Cardiovascular phenotype ⚠
p.Gly428Asp Single submitter Cardiovascular phenotype ⚠
p.Gly484Asp Single submitter Cardiovascular phenotype ⚠
p.Gly613Asp Single submitter monogenic diabetes ⚠
p.Gly629Asp Single submitter Cardiovascular phenotype ⚠
p.Gly846Arg Single submitter Cardiovascular phenotype ⚠
p.His1005Tyr Single submitter Cardiovascular phenotype ⚠
p.His1155Pro Single submitter monogenic diabetes ⚠
p.His115Tyr Single submitter Alstrom syndrome ⚠
p.His1305Arg Single submitter Cardiovascular phenotype ⚠
p.His1350Arg Single submitter Alstrom syndrome ⚠
p.His1384Arg Single submitter Cardiovascular phenotype ⚠
p.His1400Arg Single submitter Alstrom syndrome ⚠
p.His1822Tyr Single submitter Cardiovascular phenotype ⚠
p.His1856Asp Single submitter Cardiovascular phenotype ⚠
p.His2753Arg Single submitter Alstrom syndrome ⚠
p.His2753Asn Single submitter Cardiovascular phenotype ⚠
p.His2910Arg Single submitter Cardiovascular phenotype ⚠
p.His2946Arg Single submitter Cardiovascular phenotype ⚠
p.His3006Tyr Single submitter Cardiovascular phenotype ⚠
p.His3414Arg Single submitter Cardiovascular phenotype ⚠
p.His3439Arg Single submitter Cardiovascular phenotype ⚠
p.His3525Gln Single submitter Cardiovascular phenotype ⚠
p.His3776= Single submitter Cardiovascular phenotype
p.His3826Arg Single submitter Cardiovascular phenotype ⚠
p.His3881Tyr Single submitter inherited retinal dystrophy ⚠
p.His3956Arg Single submitter Alstrom syndrome ⚠
p.His474Asn Single submitter Cardiovascular phenotype ⚠
p.His687Tyr Single submitter Cardiovascular phenotype ⚠
p.His716Tyr Single submitter ALMS1-related disorder ⚠
p.His718Tyr Single submitter Alstrom syndrome ⚠
p.His829Arg Single submitter Cardiovascular phenotype ⚠
p.His83Gln Single submitter Alstrom syndrome ⚠
p.His879Arg Single submitter Alstrom syndrome ⚠
p.Ile1164Val Single submitter Cardiovascular phenotype ⚠
p.Ile1211Val Single submitter Cardiovascular phenotype ⚠
p.Ile1328Thr Single submitter Cardiovascular phenotype ⚠
p.Ile1483Thr Single submitter Cardiovascular phenotype ⚠
p.Ile1485Thr Single submitter Alstrom syndrome ⚠
p.Ile1599Val Single submitter Alstrom syndrome ⚠
p.Ile2031Thr Single submitter Cardiovascular phenotype ⚠
p.Ile2071Val Single submitter Alstrom syndrome ⚠
p.Ile217Val Single submitter Cardiovascular phenotype ⚠
p.Ile2456Thr Single submitter Cardiovascular phenotype ⚠
p.Ile2787Val Single submitter Cardiovascular phenotype ⚠
p.Ile2838Val Single submitter Cardiovascular phenotype ⚠
p.Ile2922Thr Single submitter Cardiovascular phenotype ⚠
p.Ile2964Val Single submitter Cardiovascular phenotype ⚠
p.Ile3049Val Single submitter Cardiovascular phenotype ⚠
p.Ile3785Val Single submitter Cardiovascular phenotype ⚠
p.Ile380Thr Single submitter Cardiovascular phenotype ⚠
p.Ile3887Thr Single submitter Cardiovascular phenotype ⚠
p.Ile3991Val Single submitter Cardiovascular phenotype ⚠
p.Ile4104Val Single submitter Alstrom syndrome ⚠
p.Ile4110Met Single submitter Cardiovascular phenotype ⚠
p.Ile485Val Single submitter monogenic diabetes ⚠
p.Ile506Thr Single submitter Cardiovascular phenotype ⚠
p.Ile724Val Single submitter Cardiovascular phenotype ⚠
p.Ile889Val Single submitter Alstrom syndrome ⚠
p.Leu1159Phe Single submitter Alstrom syndrome ⚠
p.Leu1443Phe Single submitter Cardiovascular phenotype ⚠
p.Leu1495Val Single submitter Cardiovascular phenotype ⚠
p.Leu158Phe Single submitter Cardiovascular phenotype ⚠
p.Leu1615Val Single submitter Alstrom syndrome ⚠
p.Leu1846= Single submitter inherited retinal dystrophy
p.Leu190Met Single submitter Cardiovascular phenotype ⚠
p.Leu2166Val Single submitter Cardiovascular phenotype ⚠
p.Leu2274= Single submitter Alstrom syndrome
p.Leu2317Pro Single submitter Cardiovascular phenotype ⚠
p.Leu2363Val Single submitter Cardiovascular phenotype ⚠
p.Leu2844Phe Single submitter Cardiovascular phenotype ⚠
p.Leu2966= Single submitter Cardiovascular phenotype
p.Leu3189Phe Single submitter Alstrom syndrome ⚠
p.Leu3213Val Single submitter Cardiovascular phenotype
p.Leu3673Ile Single submitter Cardiovascular phenotype ⚠
p.Leu3775Val Single submitter Cardiovascular phenotype ⚠
p.Leu537Val Single submitter Cardiovascular phenotype ⚠
p.Leu547Val Single submitter Cardiovascular phenotype ⚠
p.Leu712Val Single submitter Cardiovascular phenotype ⚠
p.Lys1102Thr Single submitter Cardiovascular phenotype ⚠
p.Lys1244Glu Single submitter Cardiovascular phenotype ⚠
p.Lys1323Glu Single submitter Cardiovascular phenotype ⚠
p.Lys1487Glu Single submitter Alstrom syndrome ⚠
p.Lys1811Asn Single submitter monogenic diabetes ⚠
p.Lys1997Arg Single submitter Cardiovascular phenotype ⚠
p.Lys2024Thr Single submitter Cardiovascular phenotype ⚠
p.Lys2026Arg Single submitter Alstrom syndrome ⚠
p.Lys2026Glu Single submitter Cardiovascular phenotype ⚠
p.Lys2453Asn Single submitter Cardiovascular phenotype ⚠
p.Lys2767Glu Single submitter Alstrom syndrome ⚠
p.Lys2810= Single submitter Alstrom syndrome
p.Lys2934Arg Single submitter Alstrom syndrome ⚠
p.Lys2997Gln Single submitter Alstrom syndrome ⚠
p.Lys3002Asn Single submitter Cardiovascular phenotype ⚠
p.Lys3058Arg Single submitter Cardiovascular phenotype ⚠
p.Lys3195Thr Single submitter Cardiovascular phenotype ⚠
p.Lys3435Glu Single submitter monogenic diabetes ⚠
p.Lys3442Asn Single submitter Cardiovascular phenotype ⚠
p.Lys3585Arg Single submitter Alstrom syndrome ⚠

Benign 80

c.11668+119A>G Multiple submitters
c.12115-8del Multiple submitters Alstrom syndrome
c.12298+5G>A Multiple submitters Cardiovascular phenotype
c.12362+23A>T Multiple submitters
c.12362+24C>T Multiple submitters
c.12362+27A>G Multiple submitters
c.12362+57C>T Multiple submitters
c.324+21G>A Multiple submitters
c.764+20T>A Multiple submitters Alstrom syndrome
c.9782-70G>A Multiple submitters
c.9782-9C>T Multiple submitters Alstrom syndrome
c.9907+160A>G Multiple submitters
c.9907+20C>T Multiple submitters Alstrom syndrome
c.*154G>C Multiple submitters Alstrom syndrome
c.*267T>A Multiple submitters Alstrom syndrome
p.Arg1929Gln Multiple submitters Cardiovascular phenotype
p.Arg2285Pro Multiple submitters Cardiovascular phenotype
p.Arg2827Ser Multiple submitters Cardiovascular phenotype
p.Arg392Cys Multiple submitters Cardiovascular phenotype
p.Asn2857Ser Multiple submitters Cardiovascular phenotype
p.Asn3305Ser Multiple submitters Cardiovascular phenotype
p.Asp2673His Multiple submitters Cardiovascular phenotype
p.Asp845= Multiple submitters Cardiovascular phenotype
p.Gln1298= Multiple submitters Cardiovascular phenotype
p.Gln1393= Multiple submitters Cardiovascular phenotype
p.Gln1723= Multiple submitters Cardiovascular phenotype
p.Gln633= Multiple submitters Cardiovascular phenotype
p.Glu28dup Multiple submitters Alstrom syndrome
p.Glu3841= Multiple submitters Cardiovascular phenotype
p.Gly1413Ala Multiple submitters Cardiovascular phenotype
p.Gly1415Ala Multiple submitters Cardiovascular phenotype
p.Gly3756Ser Multiple submitters Cardiovascular phenotype
p.Gly3941Ser Multiple submitters monogenic diabetes
p.His624Arg Multiple submitters monogenic diabetes
p.Ile1876Val Multiple submitters Cardiovascular phenotype
p.Ile2071Thr Multiple submitters Cardiovascular phenotype
p.Leu773= Multiple submitters Cardiovascular phenotype
p.Lys1874Glu Multiple submitters Cardiovascular phenotype
p.Pro3445= Multiple submitters Cardiovascular phenotype
p.Pro526_Leu527insPro Multiple submitters Cardiovascular phenotype
p.Ser2101Leu Multiple submitters Cardiovascular phenotype
p.Ser2112Arg Multiple submitters Cardiovascular phenotype
p.Ser2575Asn Multiple submitters Cardiovascular phenotype
p.Ser3685Asn Multiple submitters Cardiovascular phenotype
p.Thr1385Arg Multiple submitters monogenic diabetes
p.Thr3187= Multiple submitters Cardiovascular phenotype
p.Thr382Ala Multiple submitters Cardiovascular phenotype
p.Val887= Multiple submitters Alstrom syndrome
c.10384+173TA[8] Single submitter
c.10385-239C>A Single submitter
c.11548-11del Single submitter Alstrom syndrome
c.11548-5del Single submitter Alstrom syndrome
c.12115-17T>C Single submitter Alstrom syndrome
c.12298+183C>T Single submitter
c.12362+16_12362+18delinsT Single submitter
c.12362+162dup Single submitter
c.1432+171_1432+813del Single submitter Cardiovascular phenotype
c.1433-12_1433-10dup Single submitter
c.325-4dup Single submitter Alstrom syndrome
c.7541-163A>G Single submitter
c.7675-144C>G Single submitter
c.9540-234A>T Single submitter
c.9540-259T>C Single submitter
c.9540-305C>G Single submitter
c.9540-7dup Single submitter Alstrom syndrome
c.9782-11dup Single submitter Alstrom syndrome
c.9907+309G>A Single submitter
c.9908-13del Single submitter Alstrom syndrome
c.9908-221A>G Single submitter
c.-39CTC[6] Single submitter
p.Arg2849Lys Single submitter Alstrom syndrome
p.Gln1441His Single submitter ALMS1-related disorder
p.Glu1819= Single submitter
p.Glu20fs Single submitter Cardiovascular phenotype
p.Glu21fs Single submitter Alstrom syndrome
p.Glu28_Ala29insGluGlu Single submitter Cardiovascular phenotype
p.Pro314= Single submitter
p.Ser223Tyr Single submitter
p.Ser3094= Single submitter
p.Glu27fs No assertion criteria Alstrom syndrome

Benign/Likely benign 56

c.10213+12G>A Multiple submitters Alstrom syndrome
c.12115-8dup Multiple submitters Alstrom syndrome
c.12362+16_12362+17del Multiple submitters Alstrom syndrome
c.12362+16_12362+27delinsTGAGTTTGTG Multiple submitters Alstrom syndrome
c.12362+18A>T Multiple submitters Alstrom syndrome
c.12363-18A>C Multiple submitters Alstrom syndrome
c.1338+19A>G Multiple submitters Alstrom syndrome
c.1433-64dup Multiple submitters
c.646+15T>G Multiple submitters Alstrom syndrome
p.Ala34_Ala35dup Multiple submitters Cardiovascular phenotype
p.Asn1787Asp Multiple submitters Cardiovascular phenotype
p.Asn2423Ser Multiple submitters Cardiovascular phenotype
p.Asn2829= Multiple submitters Cardiovascular phenotype
p.Asn2945Lys Multiple submitters Cardiovascular phenotype
p.Asn2981Ser Multiple submitters Alstrom syndrome
p.Asp2251Gly Multiple submitters monogenic diabetes
p.Asp3924= Multiple submitters Cardiovascular phenotype
p.Gln1535= Multiple submitters Cardiovascular phenotype
p.Gln2758= Multiple submitters Alstrom syndrome
p.Gln3584Leu Multiple submitters monogenic diabetes
p.Glu24_Glu28dup Multiple submitters Cardiovascular phenotype
p.Glu25= Multiple submitters Cardiovascular phenotype
p.Glu25_Glu28del Multiple submitters Cardiovascular phenotype
p.Glu28del Multiple submitters Cardiovascular phenotype
p.Glu3413Gly Multiple submitters Cardiovascular phenotype
p.Glu785Gly Multiple submitters Cardiovascular phenotype
p.Gly1104Asp Multiple submitters Cardiovascular phenotype
p.His910= Multiple submitters Cardiovascular phenotype
p.Ile2003Val Multiple submitters monogenic diabetes
p.Leu12_Glu25= Multiple submitters Cardiovascular phenotype
p.Leu922= Multiple submitters Cardiovascular phenotype
p.Lys1244= Multiple submitters Cardiovascular phenotype
p.Lys1654Asn Multiple submitters Cardiovascular phenotype
p.Lys3424Asn Multiple submitters monogenic diabetes
p.Lys886= Multiple submitters Cardiovascular phenotype
p.Phe3867= Multiple submitters Cardiovascular phenotype
p.Phe730= Multiple submitters ALMS1-related disorder
p.Pro1821= Multiple submitters Cardiovascular phenotype
p.Pro2185Ser Multiple submitters monogenic diabetes
p.Pro525del Multiple submitters
p.Ser1065Pro Multiple submitters Cardiovascular phenotype
p.Ser2049Thr Multiple submitters Alstrom syndrome
p.Ser315= Multiple submitters Alstrom syndrome
p.Ser325= Multiple submitters Alstrom syndrome
p.Ser3256Cys Multiple submitters Cardiovascular phenotype
p.Ser3706Cys Multiple submitters Cardiovascular phenotype
p.Ser3827Arg Multiple submitters Cardiovascular phenotype
p.Ser3915= Multiple submitters Cardiovascular phenotype
p.Thr1089Arg Multiple submitters Cardiovascular phenotype
p.Thr1749Ala Multiple submitters Alstrom syndrome
p.Tyr394= Multiple submitters Cardiovascular phenotype
p.Val2914= Multiple submitters Alstrom syndrome
p.Val2994Ile Multiple submitters Alstrom syndrome
p.Val3850= Multiple submitters Alstrom syndrome
p.Val423Ile Multiple submitters inherited retinal dystrophy
p.Val806Leu Multiple submitters Cardiovascular phenotype

Likely benign 2354

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

c.10213+22C>T Multiple submitters
c.10213+7A>G Multiple submitters Alstrom syndrome
c.10214-12dup Multiple submitters Alstrom syndrome
c.10214-4G>A Multiple submitters Cardiovascular phenotype
c.11547+13A>G Multiple submitters Alstrom syndrome
c.11547+16T>C Multiple submitters Alstrom syndrome
c.11669-17A>G Multiple submitters Alstrom syndrome
c.11872+12A>G Multiple submitters Alstrom syndrome
c.11872+9C>G Multiple submitters Alstrom syndrome
c.12114+14G>T Multiple submitters Alstrom syndrome
c.12114+33G>A Multiple submitters
c.12115-7C>T Multiple submitters Alstrom syndrome
c.12298+13C>T Multiple submitters Alstrom syndrome
c.12299-19C>T Multiple submitters Alstrom syndrome
c.1237+8C>A Multiple submitters Alstrom syndrome
c.1237+9C>G Multiple submitters Alstrom syndrome
c.1238-9A>G Multiple submitters Alstrom syndrome
c.1432+15G>A Multiple submitters Alstrom syndrome
c.1432+7A>G Multiple submitters Alstrom syndrome
c.325-8A>G Multiple submitters Alstrom syndrome
c.451-4C>G Multiple submitters Cardiovascular phenotype
c.451-5T>G Multiple submitters Alstrom syndrome
c.646+8C>G Multiple submitters Alstrom syndrome
c.764+17G>T Multiple submitters Alstrom syndrome
c.764+19A>G Multiple submitters Alstrom syndrome
c.765-15_765-12del Multiple submitters Alstrom syndrome
c.765-4T>C Multiple submitters Alstrom syndrome
c.7675-4C>T Multiple submitters Cardiovascular phenotype
c.7675-64A>T Multiple submitters
c.7675-66A>T Multiple submitters
c.9781+19A>G Multiple submitters Alstrom syndrome
c.9781+19del Multiple submitters Alstrom syndrome
c.9782-18T>C Multiple submitters Alstrom syndrome
c.9907+129T>G Multiple submitters
c.9907+14A>G Multiple submitters Alstrom syndrome
c.9907+17A>C Multiple submitters Alstrom syndrome
c.9907+8G>A Multiple submitters Alstrom syndrome
c.9908-12G>A Multiple submitters Alstrom syndrome
c.9908-13C>T Multiple submitters Alstrom syndrome
p.Ala1130= Multiple submitters Cardiovascular phenotype
p.Ala1225= Multiple submitters Alstrom syndrome
p.Ala1262= Multiple submitters Cardiovascular phenotype
p.Ala1310= Multiple submitters ALMS1-related disorder
p.Ala1315= Multiple submitters Alstrom syndrome
p.Ala1410= Multiple submitters Cardiovascular phenotype
p.Ala1528= Multiple submitters Cardiovascular phenotype
p.Ala1553= Multiple submitters Cardiovascular phenotype
p.Ala1619= Multiple submitters Cardiovascular phenotype
p.Ala1646= Multiple submitters Cardiovascular phenotype
p.Ala1699= Multiple submitters Alstrom syndrome
p.Ala1745= Multiple submitters Cardiovascular phenotype
p.Ala1891= Multiple submitters Alstrom syndrome
p.Ala2165= Multiple submitters Cardiovascular phenotype
p.Ala2419= Multiple submitters Alstrom syndrome
p.Ala2496= Multiple submitters Alstrom syndrome
p.Ala276= Multiple submitters Cardiovascular phenotype
p.Ala282= Multiple submitters Cardiovascular phenotype
p.Ala2935= Multiple submitters Cardiovascular phenotype
p.Ala30= Multiple submitters Cardiovascular phenotype
p.Ala3077= Multiple submitters Cardiovascular phenotype
p.Ala3108= Multiple submitters Cardiovascular phenotype
p.Ala3393= Multiple submitters Cardiovascular phenotype
p.Ala34= Multiple submitters Cardiovascular phenotype
p.Ala3408= Multiple submitters Cardiovascular phenotype
p.Ala3411= Multiple submitters Alstrom syndrome
p.Ala3412= Multiple submitters Cardiovascular phenotype
p.Ala3480= Multiple submitters Alstrom syndrome
p.Ala3793= Multiple submitters Cardiovascular phenotype
p.Ala4018= Multiple submitters Cardiovascular phenotype
p.Ala4078= Multiple submitters Alstrom syndrome
p.Ala4149= Multiple submitters Cardiovascular phenotype
p.Ala702= Multiple submitters Cardiovascular phenotype
p.Ala76= Multiple submitters Cardiovascular phenotype
p.Ala794= Multiple submitters Cardiovascular phenotype
p.Ala810= Multiple submitters Cardiovascular phenotype
p.Ala834= Multiple submitters Cardiovascular phenotype
p.Ala839= Multiple submitters Alstrom syndrome
p.Ala859= Multiple submitters Cardiovascular phenotype
p.Ala983= Multiple submitters Cardiovascular phenotype
p.Arg1148= Multiple submitters Cardiovascular phenotype
p.Arg1668= Multiple submitters Alstrom syndrome
p.Arg1818= Multiple submitters Cardiovascular phenotype
p.Arg1832= Multiple submitters Alstrom syndrome
p.Arg1943His Multiple submitters Cardiovascular phenotype
p.Arg2145= Multiple submitters Cardiovascular phenotype
p.Arg2159= Multiple submitters Alstrom syndrome
p.Arg2345= Multiple submitters Alstrom syndrome
p.Arg2564= Multiple submitters Cardiovascular phenotype
p.Arg2588= Multiple submitters Cardiovascular phenotype
p.Arg2792= Multiple submitters Cardiovascular phenotype
p.Arg2885= Multiple submitters Alstrom syndrome
p.Arg2927= Multiple submitters Alstrom syndrome
p.Arg2943= Multiple submitters Cardiovascular phenotype
p.Arg3257= Multiple submitters Cardiovascular phenotype
p.Arg3620= Multiple submitters Cardiovascular phenotype
p.Arg3702= Multiple submitters Cardiovascular phenotype
p.Arg3798= Multiple submitters Cardiovascular phenotype
p.Arg3805= Multiple submitters Alstrom syndrome
p.Arg4058= Multiple submitters Cardiovascular phenotype
p.Arg4118= Multiple submitters Alstrom syndrome
p.Arg767= Multiple submitters Cardiovascular phenotype
p.Asn1256= Multiple submitters Alstrom syndrome
p.Asn1312= Multiple submitters Cardiovascular phenotype
p.Asn1407= Multiple submitters Cardiovascular phenotype
p.Asn1766= Multiple submitters Cardiovascular phenotype
p.Asn1844= Multiple submitters Cardiovascular phenotype
p.Asn1898= Multiple submitters Alstrom syndrome
p.Asn3599= Multiple submitters Cardiovascular phenotype
p.Asn3688= Multiple submitters Cardiovascular phenotype
p.Asn3896= Multiple submitters Cardiovascular phenotype
p.Asn3951= Multiple submitters Alstrom syndrome
p.Asn3976= Multiple submitters Cardiovascular phenotype
p.Asn4107= Multiple submitters Cardiovascular phenotype
p.Asn877= Multiple submitters Alstrom syndrome
p.Asp1037= Multiple submitters Cardiovascular phenotype
p.Asp1587= Multiple submitters Alstrom syndrome
p.Asp1609= Multiple submitters Cardiovascular phenotype
p.Asp186= Multiple submitters Alstrom syndrome
p.Asp2243= Multiple submitters Cardiovascular phenotype
p.Asp2335= Multiple submitters Cardiovascular phenotype
p.Asp2673= Multiple submitters Cardiovascular phenotype
p.Asp2677= Multiple submitters Alstrom syndrome
p.Asp2875= Multiple submitters Cardiovascular phenotype
p.Asp2897= Multiple submitters Cardiovascular phenotype
p.Asp3141= Multiple submitters Alstrom syndrome
p.Asp3224= Multiple submitters Alstrom syndrome
p.Asp340= Multiple submitters Alstrom syndrome
p.Asp3561= Multiple submitters Alstrom syndrome
p.Asp3770= Multiple submitters Alstrom syndrome
p.Asp3786= Multiple submitters Cardiovascular phenotype
p.Asp38= Multiple submitters Cardiovascular phenotype
p.Asp3945= Multiple submitters Alstrom syndrome
p.Asp4012= Multiple submitters Cardiovascular phenotype
p.Asp479= Multiple submitters Alstrom syndrome
p.Asp55= Multiple submitters Cardiovascular phenotype
p.Asp591= Multiple submitters Cardiovascular phenotype
p.Asp674= Multiple submitters Cardiovascular phenotype
p.Asp70= Multiple submitters Cardiovascular phenotype
p.Asp732= Multiple submitters Cardiovascular phenotype
p.Asp924= Multiple submitters Cardiovascular phenotype
p.Cys157= Multiple submitters Cardiovascular phenotype
p.Cys2933= Multiple submitters Cardiovascular phenotype
p.Cys3046= Multiple submitters Cardiovascular phenotype
p.Cys3800= Multiple submitters Cardiovascular phenotype
p.Gln1014= Multiple submitters Alstrom syndrome
p.Gln1132= Multiple submitters Cardiovascular phenotype
p.Gln129= Multiple submitters Cardiovascular phenotype
p.Gln1299= Multiple submitters Cardiovascular phenotype
p.Gln1345= Multiple submitters Cardiovascular phenotype
p.Gln1383= Multiple submitters Alstrom syndrome
p.Gln143= Multiple submitters Alstrom syndrome
p.Gln1440= Multiple submitters Cardiovascular phenotype
p.Gln1488= Multiple submitters Cardiovascular phenotype
p.Gln1542= Multiple submitters Cardiovascular phenotype
p.Gln1653= Multiple submitters Alstrom syndrome
p.Gln1733= Multiple submitters Cardiovascular phenotype
p.Gln197= Multiple submitters Cardiovascular phenotype
p.Gln2059= Multiple submitters Alstrom syndrome
p.Gln2339= Multiple submitters Cardiovascular phenotype
p.Gln2380= Multiple submitters Cardiovascular phenotype
p.Gln2488= Multiple submitters Cardiovascular phenotype
p.Gln279= Multiple submitters Alstrom syndrome
p.Gln2807= Multiple submitters Cardiovascular phenotype
p.Gln2909= Multiple submitters Cardiovascular phenotype
p.Gln3159= Multiple submitters Alstrom syndrome
p.Gln3281= Multiple submitters Alstrom syndrome
p.Gln3379= Multiple submitters Cardiovascular phenotype
p.Gln3581= Multiple submitters Cardiovascular phenotype
p.Gln3611= Multiple submitters Cardiovascular phenotype
p.Gln3668= Multiple submitters Cardiovascular phenotype
p.Gln3724= Multiple submitters Alstrom syndrome
p.Gln3792= Multiple submitters Cardiovascular phenotype
p.Gln4009= Multiple submitters Cardiovascular phenotype
p.Gln4042= Multiple submitters Cardiovascular phenotype
p.Gln490= Multiple submitters Cardiovascular phenotype
p.Gln519= Multiple submitters Cardiovascular phenotype
p.Gln539= Multiple submitters Cardiovascular phenotype
p.Gln727= Multiple submitters Cardiovascular phenotype
p.Gln766= Multiple submitters Cardiovascular phenotype
p.Gln776= Multiple submitters Alstrom syndrome
p.Glu1016= Multiple submitters Cardiovascular phenotype
p.Glu1167= Multiple submitters Alstrom syndrome
p.Glu1605= Multiple submitters Alstrom syndrome
p.Glu1855= Multiple submitters Alstrom syndrome
p.Glu1909= Multiple submitters Alstrom syndrome
p.Glu1994= Multiple submitters Cardiovascular phenotype
p.Glu20= Multiple submitters Cardiovascular phenotype
p.Glu21= Multiple submitters Alstrom syndrome
p.Glu22= Multiple submitters Cardiovascular phenotype
p.Glu23= Multiple submitters Alstrom syndrome
p.Glu2393= Multiple submitters Cardiovascular phenotype
p.Glu24= Multiple submitters Cardiovascular phenotype
p.Glu2541= Multiple submitters Cardiovascular phenotype
p.Glu2571= Multiple submitters Alstrom syndrome
p.Glu2580= Multiple submitters Cardiovascular phenotype
p.Glu2823= Multiple submitters Alstrom syndrome
p.Glu2886= Multiple submitters Alstrom syndrome
p.Glu2889= Multiple submitters Alstrom syndrome
p.Glu2967= Multiple submitters Cardiovascular phenotype
p.Glu3112= Multiple submitters Alstrom syndrome
p.Glu3231= Multiple submitters Cardiovascular phenotype
p.Glu3397= Multiple submitters Alstrom syndrome
p.Glu3454= Multiple submitters Cardiovascular phenotype
p.Glu3462= Multiple submitters Cardiovascular phenotype
p.Glu3468= Multiple submitters Cardiovascular phenotype
p.Glu3524= Multiple submitters Alstrom syndrome
p.Glu3622= Multiple submitters Cardiovascular phenotype
p.Glu3691= Multiple submitters Alstrom syndrome
p.Glu3741= Multiple submitters Cardiovascular phenotype
p.Glu4075= Multiple submitters Cardiovascular phenotype
p.Glu45= Multiple submitters Alstrom syndrome
p.Glu515= Multiple submitters Alstrom syndrome
p.Glu647= Multiple submitters Alstrom syndrome
p.Glu656= Multiple submitters Alstrom syndrome
p.Glu729= Multiple submitters Alstrom syndrome
p.Glu768= Multiple submitters Cardiovascular phenotype
p.Gly1032= Multiple submitters Alstrom syndrome
p.Gly1135= Multiple submitters Cardiovascular phenotype
p.Gly1176= Multiple submitters Alstrom syndrome
p.Gly145= Multiple submitters Cardiovascular phenotype
p.Gly1925= Multiple submitters Cardiovascular phenotype
p.Gly1979= Multiple submitters Cardiovascular phenotype
p.Gly2748= Multiple submitters Cardiovascular phenotype
p.Gly2855= Multiple submitters Cardiovascular phenotype
p.Gly302= Multiple submitters Alstrom syndrome
p.Gly3350= Multiple submitters Cardiovascular phenotype
p.Gly3502= Multiple submitters Cardiovascular phenotype
p.Gly3656= Multiple submitters Cardiovascular phenotype
p.Gly395= Multiple submitters Cardiovascular phenotype
p.Gly3984= Multiple submitters Alstrom syndrome
p.Gly606= Multiple submitters Cardiovascular phenotype
p.Gly613= Multiple submitters Cardiovascular phenotype
p.Gly892= Multiple submitters Cardiovascular phenotype
p.His115= Multiple submitters Cardiovascular phenotype
p.His1447= Multiple submitters Cardiovascular phenotype
p.His1494= Multiple submitters Alstrom syndrome
p.His156= Multiple submitters ALMS1-related disorder
p.His2201= Multiple submitters Cardiovascular phenotype
p.His2582= Multiple submitters Alstrom syndrome
p.His2639= Multiple submitters Alstrom syndrome
p.His2910= Multiple submitters Alstrom syndrome
p.His3006= Multiple submitters Cardiovascular phenotype
p.His3498= Multiple submitters Cardiovascular phenotype
p.His387= Multiple submitters Alstrom syndrome
p.His3956= Multiple submitters Cardiovascular phenotype
p.His577= Multiple submitters Cardiovascular phenotype
p.Ile1466= Multiple submitters Cardiovascular phenotype
p.Ile1998= Multiple submitters Cardiovascular phenotype
p.Ile3204= Multiple submitters Cardiovascular phenotype
p.Ile3711= Multiple submitters Cardiovascular phenotype
p.Ile4049= Multiple submitters Cardiovascular phenotype
p.Ile506= Multiple submitters Alstrom syndrome
p.Leu1027= Multiple submitters Alstrom syndrome
p.Leu1059= Multiple submitters Cardiovascular phenotype
p.Leu1396= Multiple submitters Cardiovascular phenotype
p.Leu1679= Multiple submitters Cardiovascular phenotype
p.Leu1736= Multiple submitters Cardiovascular phenotype
p.Leu1778= Multiple submitters Cardiovascular phenotype
p.Leu1783= Multiple submitters Cardiovascular phenotype
p.Leu2161= Multiple submitters Alstrom syndrome
p.Leu2166= Multiple submitters Cardiovascular phenotype
p.Leu2197= Multiple submitters Alstrom syndrome
p.Leu2316= Multiple submitters Cardiovascular phenotype
p.Leu2363= Multiple submitters Cardiovascular phenotype
p.Leu2374= Multiple submitters Alstrom syndrome
p.Leu243= Multiple submitters Cardiovascular phenotype
p.Leu2532= Multiple submitters Cardiovascular phenotype
p.Leu2547= Multiple submitters Cardiovascular phenotype
p.Leu2597= Multiple submitters Alstrom syndrome
p.Leu2648= Multiple submitters Cardiovascular phenotype
p.Leu2863= Multiple submitters Cardiovascular phenotype
p.Leu2918= Multiple submitters Cardiovascular phenotype
p.Leu2987= Multiple submitters Cardiovascular phenotype
p.Leu3071= Multiple submitters Cardiovascular phenotype
p.Leu3117= Multiple submitters Cardiovascular phenotype
p.Leu3213= Multiple submitters Cardiovascular phenotype
p.Leu3237= Multiple submitters Alstrom syndrome
p.Leu3554= Multiple submitters Cardiovascular phenotype
p.Leu3598= Multiple submitters Cardiovascular phenotype
p.Leu3623= Multiple submitters Alstrom syndrome
p.Leu3775= Multiple submitters Cardiovascular phenotype
p.Leu3790= Multiple submitters Cardiovascular phenotype
p.Leu3820= Multiple submitters Cardiovascular phenotype
p.Leu4028= Multiple submitters Cardiovascular phenotype
p.Leu4029= Multiple submitters Alstrom syndrome
p.Leu4059= Multiple submitters Cardiovascular phenotype
p.Leu4072= Multiple submitters Alstrom syndrome
p.Leu4079= Multiple submitters Alstrom syndrome
p.Leu4151= Multiple submitters Cardiovascular phenotype
p.Leu4161= Multiple submitters Cardiovascular phenotype
p.Leu461= Multiple submitters Alstrom syndrome
p.Leu475= Multiple submitters Cardiovascular phenotype
p.Leu526= Multiple submitters Cardiovascular phenotype
p.Leu547= Multiple submitters Alstrom syndrome
p.Leu552= Multiple submitters Cardiovascular phenotype
p.Leu607= Multiple submitters Cardiovascular phenotype
p.Leu683= Multiple submitters Alstrom syndrome
p.Leu783= Multiple submitters Cardiovascular phenotype
p.Leu788= Multiple submitters Alstrom syndrome
p.Leu940= Multiple submitters Cardiovascular phenotype

Uncertain significance 3058

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

c.11668+3A>G Multiple submitters Cardiovascular phenotype
c.11873-8T>G Multiple submitters Alstrom syndrome
c.12114+4C>T Multiple submitters Cardiovascular phenotype
c.12362+5G>C Multiple submitters Cardiovascular phenotype
c.1237+4A>G Multiple submitters Alstrom syndrome
c.12462+1G>T Multiple submitters Alstrom syndrome
c.12463-1G>C Multiple submitters Alstrom syndrome
c.1338+3G>A Multiple submitters Cardiovascular phenotype
c.1432+5G>A Multiple submitters Alstrom syndrome
c.1433-3T>C Multiple submitters Cardiovascular phenotype
c.7540+3A>G Multiple submitters Alstrom syndrome
c.-107G>A Multiple submitters Alstrom syndrome
c.-64C>T Multiple submitters Alstrom syndrome
p.70DEE[1] Multiple submitters Alstrom syndrome
p.70DEE[3] Multiple submitters Cardiovascular phenotype
p.Ala1022Ser Multiple submitters Alstrom syndrome ⚠
p.Ala1026Pro Multiple submitters Cardiovascular phenotype ⚠
p.Ala1091Val Multiple submitters Alstrom syndrome ⚠
p.Ala1158Pro Multiple submitters Cardiovascular phenotype ⚠
p.Ala1158Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala1168Thr Multiple submitters Alstrom syndrome ⚠
p.Ala1215Val Multiple submitters Alstrom syndrome ⚠
p.Ala1280Pro Multiple submitters Alstrom syndrome ⚠
p.Ala1280Thr Multiple submitters Alstrom syndrome ⚠
p.Ala1452Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala1547Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala1646Thr Multiple submitters Alstrom syndrome ⚠
p.Ala1647Gly Multiple submitters Cardiovascular phenotype ⚠
p.Ala1725Ser Multiple submitters Cardiovascular phenotype ⚠
p.Ala1725Thr Multiple submitters Alstrom syndrome ⚠
p.Ala1837del Multiple submitters Cardiovascular phenotype
p.Ala2175Thr Multiple submitters Alstrom syndrome ⚠
p.Ala2273Thr Multiple submitters Alstrom syndrome ⚠
p.Ala2281Gly Multiple submitters Alstrom syndrome ⚠
p.Ala2419Val Multiple submitters Alstrom syndrome ⚠
p.Ala2503Ser Multiple submitters Cardiovascular phenotype ⚠
p.Ala2503Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala2624Thr Multiple submitters Alstrom syndrome ⚠
p.Ala2631Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala2828Glu Multiple submitters Alstrom syndrome ⚠
p.Ala32Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala3361Asp Multiple submitters Alstrom syndrome ⚠
p.Ala3390Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala3408Val Multiple submitters Alstrom syndrome ⚠
p.Ala3412Ser Multiple submitters Alstrom syndrome ⚠
p.Ala35Pro Multiple submitters Cardiovascular phenotype ⚠
p.Ala407Gly Multiple submitters Cardiovascular phenotype ⚠
p.Ala731Thr Multiple submitters Alstrom syndrome ⚠
p.Ala824Asp Multiple submitters Cardiovascular phenotype ⚠
p.Ala82Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala839Thr Multiple submitters Cardiovascular phenotype ⚠
p.Arg103Leu Multiple submitters Alstrom syndrome ⚠
p.Arg127Gly Multiple submitters Cardiovascular phenotype ⚠
p.Arg144Trp Multiple submitters Alstrom syndrome ⚠
p.Arg1818Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg1818Leu Multiple submitters Alstrom syndrome ⚠
p.Arg2065Lys Multiple submitters Alstrom syndrome ⚠
p.Arg2098Gly Multiple submitters Alstrom syndrome ⚠
p.Arg2159Gly Multiple submitters Cardiovascular phenotype ⚠
p.Arg2159Ser Multiple submitters Alstrom syndrome ⚠
p.Arg2204Ser Multiple submitters Cardiovascular phenotype ⚠
p.Arg2263Trp Multiple submitters Alstrom syndrome ⚠
p.Arg2285Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg2285His Multiple submitters Alstrom syndrome ⚠
p.Arg2345Trp Multiple submitters Cardiovascular phenotype ⚠
p.Arg2346Lys Multiple submitters Alstrom syndrome ⚠
p.Arg2360Thr Multiple submitters Alstrom syndrome ⚠
p.Arg2389Ser Multiple submitters Cardiovascular phenotype ⚠
p.Arg2509Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg2509Trp Multiple submitters Cardiovascular phenotype ⚠
p.Arg2564Trp Multiple submitters Alstrom syndrome ⚠
p.Arg2588Gln Multiple submitters Alstrom syndrome ⚠
p.Arg2588Trp Multiple submitters Alstrom syndrome ⚠
p.Arg2614Gly Multiple submitters Cardiovascular phenotype ⚠
p.Arg2616Trp Multiple submitters Cardiovascular phenotype ⚠
p.Arg2721Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg2885Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg3041Gly Multiple submitters Alstrom syndrome ⚠
p.Arg3093Ile Multiple submitters Alstrom syndrome ⚠
p.Arg3225Gly Multiple submitters Alstrom syndrome ⚠
p.Arg3225His Multiple submitters Alstrom syndrome ⚠
p.Arg3238His Multiple submitters Cardiovascular phenotype ⚠
p.Arg338Cys Multiple submitters Alstrom syndrome ⚠
p.Arg3474Cys Multiple submitters Alstrom syndrome ⚠
p.Arg3478Lys Multiple submitters Alstrom syndrome ⚠
p.Arg3544Gly Multiple submitters Cardiovascular phenotype ⚠
p.Arg3568Ser Multiple submitters Cardiovascular phenotype ⚠
p.Arg3608Gln Multiple submitters Alstrom syndrome ⚠
p.Arg3610Gly Multiple submitters Alstrom syndrome ⚠
p.Arg3628Gln Multiple submitters Cardiovascular phenotype
p.Arg3658Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg3670Thr Multiple submitters Alstrom syndrome ⚠
p.Arg3678Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg3678Trp Multiple submitters Cardiovascular phenotype ⚠
p.Arg3702Gln Multiple submitters Alstrom syndrome ⚠
p.Arg3738Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg3738Trp Multiple submitters Alstrom syndrome ⚠
p.Arg3789Trp Multiple submitters Cardiovascular phenotype
p.Arg3798Lys Multiple submitters Alstrom syndrome ⚠
p.Arg3805Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg3805Leu Multiple submitters Cardiovascular phenotype ⚠
p.Arg3817Lys Multiple submitters Alstrom syndrome ⚠
p.Arg3823Trp Multiple submitters Cardiovascular phenotype ⚠
p.Arg3933Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg3933His Multiple submitters Cardiovascular phenotype ⚠
p.Arg3933Leu Multiple submitters Cardiovascular phenotype ⚠
p.Arg3998Ser Multiple submitters Cardiovascular phenotype ⚠
p.Arg4002Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg4051Cys Multiple submitters Cardiovascular phenotype
p.Arg4051His Multiple submitters Cardiovascular phenotype ⚠
p.Arg4055Gly Multiple submitters Alstrom syndrome
p.Arg4058His Multiple submitters Cardiovascular phenotype ⚠
p.Arg4076Gln Multiple submitters Alstrom syndrome ⚠
p.Arg4084Met Multiple submitters Cardiovascular phenotype ⚠
p.Arg4086Trp Multiple submitters Alstrom syndrome ⚠
p.Arg4092Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg4121Trp Multiple submitters Cardiovascular phenotype ⚠
p.Arg4133fs Multiple submitters Cardiovascular phenotype
p.Arg4138fs Multiple submitters Alstrom syndrome
p.Arg4146Gln Multiple submitters Alstrom syndrome
p.Arg4146Leu Multiple submitters Cardiovascular phenotype
p.Arg4146Trp Multiple submitters Cardiovascular phenotype ⚠
p.Arg4148Gln Multiple submitters Cardiovascular phenotype ⚠
p.Asn134Asp Multiple submitters Cardiovascular phenotype ⚠
p.Asn1898Lys Multiple submitters Cardiovascular phenotype ⚠
p.Asn2084Ser Multiple submitters Cardiovascular phenotype ⚠
p.Asn2102His Multiple submitters Alstrom syndrome ⚠
p.Asn2210Ile Multiple submitters Cardiovascular phenotype ⚠
p.Asn2271Asp Multiple submitters Cardiovascular phenotype ⚠
p.Asn2271Ser Multiple submitters Alstrom syndrome ⚠
p.Asn2278Ser Multiple submitters Cardiovascular phenotype ⚠
p.Asn2313Asp Multiple submitters Alstrom syndrome ⚠
p.Asn2485Lys Multiple submitters Cardiovascular phenotype ⚠
p.Asn2520Ser Multiple submitters Alstrom syndrome ⚠
p.Asn2533Lys Multiple submitters Cardiovascular phenotype ⚠
p.Asn2945Asp Multiple submitters Cardiovascular phenotype ⚠
p.Asn3136Ser Multiple submitters Cardiovascular phenotype ⚠
p.Asn3170Ser Multiple submitters Alstrom syndrome ⚠
p.Asn319Asp Multiple submitters Cardiovascular phenotype ⚠
p.Asn3234Lys Multiple submitters Cardiovascular phenotype ⚠
p.Asn3459His Multiple submitters Alstrom syndrome ⚠
p.Asn3551Ser Multiple submitters Alstrom syndrome ⚠
p.Asn3574Ser Multiple submitters Cardiovascular phenotype ⚠
p.Asn3707His Multiple submitters Cardiovascular phenotype ⚠
p.Asn3752His Multiple submitters Cardiovascular phenotype ⚠
p.Asn3814Ser Multiple submitters Alstrom syndrome ⚠
p.Asn3896Lys Multiple submitters Cardiovascular phenotype ⚠
p.Asn3951Lys Multiple submitters Alstrom syndrome ⚠
p.Asn3976Lys Multiple submitters Alstrom syndrome ⚠
p.Asn4091Lys Multiple submitters Alstrom syndrome ⚠
p.Asn4158Ile Multiple submitters Alstrom syndrome ⚠
p.Asn4158Ser Multiple submitters Cardiovascular phenotype ⚠
p.Asp1255His Multiple submitters Cardiovascular phenotype ⚠
p.Asp1463_Val1509del Multiple submitters Cardiovascular phenotype
p.Asp1775His Multiple submitters Alstrom syndrome ⚠
p.Asp1867Gly Multiple submitters Alstrom syndrome ⚠
p.Asp186Ala Multiple submitters Cardiovascular phenotype ⚠
p.Asp186His Multiple submitters Alstrom syndrome ⚠
p.Asp2006Asn Multiple submitters Alstrom syndrome ⚠
p.Asp2006Gly Multiple submitters Alstrom syndrome ⚠
p.Asp2064Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp2117Gly Multiple submitters Alstrom syndrome ⚠
p.Asp2158Gly Multiple submitters ALMS1-related disorder ⚠
p.Asp2213His Multiple submitters Alstrom syndrome ⚠
p.Asp2598Tyr Multiple submitters Alstrom syndrome ⚠
p.Asp259Glu Multiple submitters Cardiovascular phenotype ⚠
p.Asp259Gly Multiple submitters Alstrom syndrome ⚠
p.Asp259His Multiple submitters Alstrom syndrome ⚠
p.Asp2677Glu Multiple submitters Alstrom syndrome ⚠
p.Asp2782Gly Multiple submitters Cardiovascular phenotype ⚠
p.Asp2954Gly Multiple submitters Cardiovascular phenotype ⚠
p.Asp2992Tyr Multiple submitters Cardiovascular phenotype ⚠
p.Asp3072His Multiple submitters Alstrom syndrome ⚠
p.Asp3134Gly Multiple submitters Alstrom syndrome ⚠
p.Asp3164Asn Multiple submitters ALMS1-related disorder ⚠
p.Asp3306Val Multiple submitters Alstrom syndrome
p.Asp3428Glu Multiple submitters Cardiovascular phenotype ⚠
p.Asp3495Asn Multiple submitters Alstrom syndrome ⚠
p.Asp3513Val Multiple submitters inherited retinal dystrophy ⚠
p.Asp3520His Multiple submitters Alstrom syndrome ⚠
p.Asp3579His Multiple submitters Alstrom syndrome ⚠
p.Asp365Tyr Multiple submitters Cardiovascular phenotype ⚠
p.Asp3717Gly Multiple submitters Alstrom syndrome ⚠
p.Asp3770Gly Multiple submitters Alstrom syndrome ⚠
p.Asp389His Multiple submitters Alstrom syndrome ⚠
p.Asp3904Gly Multiple submitters Cardiovascular phenotype
p.Asp4012Glu Multiple submitters Cardiovascular phenotype ⚠
p.Asp503Gly Multiple submitters Cardiovascular phenotype ⚠
p.Asp591Gly Multiple submitters Cardiovascular phenotype ⚠
p.Asp591Val Multiple submitters Alstrom syndrome ⚠
p.Asp703His Multiple submitters Alstrom syndrome ⚠
p.Asp73Glu Multiple submitters Cardiovascular phenotype ⚠
p.Asp895Asn Multiple submitters Alstrom syndrome ⚠
p.Asp895del Multiple submitters Cardiovascular phenotype
p.Cys114Phe Multiple submitters Alstrom syndrome ⚠
p.Cys2426Gly Multiple submitters Cardiovascular phenotype ⚠
p.Cys2426Phe Multiple submitters Alstrom syndrome ⚠
p.Cys2426Ser Multiple submitters Alstrom syndrome ⚠
p.Cys3028Tyr Multiple submitters Alstrom syndrome ⚠
p.Gln1250Arg Multiple submitters Alstrom syndrome ⚠
p.Gln1298Lys Multiple submitters Cardiovascular phenotype ⚠
p.Gln1299His Multiple submitters Alstrom syndrome ⚠
p.Gln129His Multiple submitters Alstrom syndrome ⚠
p.Gln1322Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gln1346Glu Multiple submitters Cardiovascular phenotype ⚠
p.Gln1394Arg Multiple submitters Alstrom syndrome ⚠
p.Gln166Glu Multiple submitters Alstrom syndrome ⚠
p.Gln1676Arg Multiple submitters Alstrom syndrome ⚠
p.Gln1771Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gln1839Glu Multiple submitters Cardiovascular phenotype ⚠
p.Gln1853Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gln1907Arg Multiple submitters Alstrom syndrome ⚠
p.Gln1926Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gln197His Multiple submitters Cardiovascular phenotype ⚠
p.Gln2041Glu Multiple submitters Cardiovascular phenotype ⚠
p.Gln2041His Multiple submitters Cardiovascular phenotype ⚠
p.Gln2067Glu Multiple submitters Cardiovascular phenotype ⚠
p.Gln2153Arg Multiple submitters Alstrom syndrome ⚠
p.Gln2296Glu Multiple submitters Alstrom syndrome ⚠
p.Gln2364Pro Multiple submitters Cardiovascular phenotype ⚠
p.Gln2561Leu Multiple submitters Alstrom syndrome ⚠
p.Gln2596His Multiple submitters Alstrom syndrome ⚠
p.Gln2758Lys Multiple submitters Alstrom syndrome ⚠
p.Gln279His Multiple submitters Alstrom syndrome ⚠
p.Gln2807Pro Multiple submitters Alstrom syndrome ⚠
p.Gln2926Lys Multiple submitters Alstrom syndrome ⚠
p.Gln2968Glu Multiple submitters Cardiovascular phenotype ⚠
p.Gln2970His Multiple submitters Cardiovascular phenotype ⚠
p.Gln3126Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gln3129Pro Multiple submitters Cardiovascular phenotype ⚠
p.Gln317His Multiple submitters Cardiovascular phenotype ⚠
p.Gln355Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gln3584Glu Multiple submitters Cardiovascular phenotype ⚠
p.Gln3609Arg Multiple submitters Alstrom syndrome ⚠
p.Gln3609His Multiple submitters Alstrom syndrome ⚠
p.Gln3611Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gln366Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gln366Glu Multiple submitters Cardiovascular phenotype ⚠
p.Gln3888Arg Multiple submitters Alstrom syndrome ⚠
p.Gln4038Arg Multiple submitters Alstrom syndrome ⚠
p.Gln4073His Multiple submitters Alstrom syndrome ⚠
p.Gln4117Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gln4130Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gln4130Leu Multiple submitters Cardiovascular phenotype ⚠
p.Gln416Arg Multiple submitters Alstrom syndrome ⚠
p.Gln657His Multiple submitters Cardiovascular phenotype ⚠
p.Gln760Arg Multiple submitters Alstrom syndrome ⚠
p.Gln896Glu Multiple submitters Cardiovascular phenotype ⚠
p.Glu1024Asp Multiple submitters Alstrom syndrome ⚠
p.Glu1308Lys Multiple submitters Alstrom syndrome ⚠
p.Glu1454Gln Multiple submitters Alstrom syndrome ⚠
p.Glu1622Gln Multiple submitters Cardiovascular phenotype ⚠
p.Glu1686Gly Multiple submitters Cardiovascular phenotype ⚠
p.Glu1686Lys Multiple submitters Alstrom syndrome ⚠
p.Glu16Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu1716Gly Multiple submitters Alstrom syndrome ⚠
p.Glu1734del Multiple submitters Alstrom syndrome
p.Glu1870Lys Multiple submitters Alstrom syndrome ⚠
p.Glu192Lys Multiple submitters Alstrom syndrome ⚠
p.Glu1954Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu19Lys Multiple submitters Alstrom syndrome ⚠
p.Glu21_Glu28del Multiple submitters Cardiovascular phenotype
p.Glu2108Gly Multiple submitters Alstrom syndrome ⚠
p.Glu2193Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu2365Lys Multiple submitters Alstrom syndrome ⚠
p.Glu237Gly Multiple submitters Cardiovascular phenotype ⚠
p.Glu2463Gly Multiple submitters Alstrom syndrome ⚠
p.Glu2498Val Multiple submitters Alstrom syndrome ⚠
p.Glu2580Asp Multiple submitters Alstrom syndrome ⚠
p.Glu262_Asp263insGlu Multiple submitters Alstrom syndrome
p.Glu2661Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu26Ala Multiple submitters Alstrom syndrome ⚠
p.Glu27_Glu28dup Multiple submitters Alstrom syndrome
p.Glu2808Gly Multiple submitters Alstrom syndrome ⚠
p.Glu28Lys Multiple submitters Alstrom syndrome ⚠
p.Glu3112Asp Multiple submitters Alstrom syndrome ⚠
p.Glu3166Lys Multiple submitters Alstrom syndrome ⚠
p.Glu321Lys Multiple submitters Alstrom syndrome ⚠
p.Glu3357Gly Multiple submitters Alstrom syndrome ⚠
p.Glu3422Gln Multiple submitters Alstrom syndrome ⚠
p.Glu3461Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu3648Lys Multiple submitters Alstrom syndrome ⚠
p.Glu3662Gly Multiple submitters Cardiovascular phenotype ⚠
p.Glu3691Lys Multiple submitters Alstrom syndrome ⚠
p.Glu3762Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu3777Lys Multiple submitters Alstrom syndrome ⚠
p.Glu3957Asp Multiple submitters Alstrom syndrome ⚠
p.Glu3975Lys Multiple submitters Alstrom syndrome ⚠
p.Glu4039Asp Multiple submitters Alstrom syndrome ⚠
p.Glu4075Lys Multiple submitters Alstrom syndrome ⚠
p.Glu4114Asp Multiple submitters Alstrom syndrome ⚠
p.Glu4136del Multiple submitters Cardiovascular phenotype
p.Glu452Lys Multiple submitters Alstrom syndrome ⚠
p.Glu48_Glu49insValGluGlu Multiple submitters Cardiovascular phenotype
p.Glu48Lys Multiple submitters Alstrom syndrome ⚠
p.Glu4Asp Multiple submitters Alstrom syndrome ⚠
p.Glu638Lys Multiple submitters Alstrom syndrome ⚠
p.Glu643Lys Multiple submitters Alstrom syndrome ⚠
p.Glu647Asp Multiple submitters Cardiovascular phenotype ⚠
p.Glu832Lys Multiple submitters Cardiovascular phenotype ⚠