Sugi Variant

Sugi Variant/SCN11A

SCN11A — 1641 ClinVar variants

All ClinVar germline SCN11A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 825 flagged for review →

4 Pathogenic · 2 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 75 Conflicting · 91 Benign · 30 Benign/Likely benign · 483 Likely benign · 953 Uncertain significance

Full SCN11A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 825

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 2

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

Predictors agree, ClinVar conflicts 51

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 581

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 581

Predictors split 191

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 191

All SCN11A variants

Pathogenic 4

  • p.Arg222His Multiple submitters SCN11A-related disorder ⚠
  • p.Leu396Pro Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Ala808Gly No assertion criteria familial episodic pain syndrome with predominantly lower limb involvement ⚠
  • p.Leu811Pro No assertion criteria hereditary sensory and autonomic neuropathy type 7

Pathogenic/Likely pathogenic 2

  • p.Arg222Ser Multiple submitters familial episodic pain syndrome with predominantly lower limb involvement
  • p.Arg225Cys Multiple submitters hereditary sensory and autonomic neuropathy type 7

Likely pathogenic 3

  • p.Ala808Asp Single submitter hereditary sensory and autonomic neuropathy type 5
  • p.Tyr66Ser Single submitter familial episodic pain syndrome with predominantly lower limb involvement ⚠
  • p.Val573Met Single submitter ⚠

Conflicting classifications of pathogenicity 75

  • c.2404-5C>A Single submitter Inborn genetic diseases
  • c.2404-6T>C Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.268-3C>T Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.3814-3C>T Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.4057-6del Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.712+1G>A Single submitter Inborn genetic diseases
  • p.Ala1660Thr Single submitter hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Ala1688Val Single submitter hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Ala582Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala780Val Single submitter Inborn genetic diseases ⚠
  • p.Ala827Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala920Val Single submitter Inborn genetic diseases ⚠
  • p.Arg1046Gln Single submitter hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Arg1147Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg1156His Single submitter Inborn genetic diseases ⚠
  • p.Arg1350Gln Single submitter hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Arg1472Ter Single submitter hereditary sensory and autonomic neuropathy type 7
  • p.Arg1658His Single submitter hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Arg238Cys Single submitter hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Arg30Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg500Gln Single submitter hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Arg638Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg638His Single submitter Inborn genetic diseases ⚠
  • p.Arg670His Single submitter hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Arg763His Single submitter hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Arg838Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg840Cys Single submitter hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Arg841Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg982Gln Single submitter hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Asp1361Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp3His Single submitter familial episodic pain syndrome with predominantly lower limb involvement ⚠
  • p.Cys1029Arg Single submitter Inborn genetic diseases ⚠
  • p.Cys787Arg Single submitter familial episodic pain syndrome with predominantly lower limb involvement ⚠
  • p.Gln520His Single submitter Inborn genetic diseases ⚠
  • p.Gln662= Single submitter hereditary sensory and autonomic neuropathy type 7
  • p.Gly1004Arg Single submitter hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Gly1357Ala Single submitter hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Gly137Ser Single submitter hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Gly1428Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly168fs Single submitter Inborn genetic diseases
  • p.Gly699Arg Single submitter hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Ile100Val Single submitter hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Ile1441Thr Single submitter hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Ile1547Thr Single submitter hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Ile161Val Single submitter hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Ile1739Val Single submitter hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Ile324Val Single submitter Inborn genetic diseases ⚠
  • p.Ile381Thr Single submitter Inborn genetic diseases ⚠
  • p.Ile589Val Single submitter familial episodic pain syndrome with predominantly lower limb involvement ⚠
  • p.Leu1158Pro Single submitter hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Leu1672Ser Single submitter Inborn genetic diseases ⚠
  • p.Lys1632Glu Single submitter hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Lys1787Glu Single submitter hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Lys35Arg Single submitter familial episodic pain syndrome with predominantly lower limb involvement ⚠
  • p.Lys408Arg Single submitter Inborn genetic diseases ⚠
  • p.Met533Ile Single submitter Inborn genetic diseases
  • p.Met657Thr Single submitter hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Phe1689Leu Single submitter Inborn genetic diseases ⚠
  • p.Phe261Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro294Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro308Leu Single submitter hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Pro577Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro741Leu Single submitter hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Pro7Ala Single submitter hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Ser902Tyr Single submitter familial episodic pain syndrome with predominantly lower limb involvement ⚠
  • p.Thr795Met Single submitter Inborn genetic diseases ⚠
  • p.Trp1005Ter Single submitter hereditary sensory and autonomic neuropathy type 7
  • p.Trp1122Ter Single submitter familial episodic pain syndrome with predominantly lower limb involvement
  • p.Tyr1627His Single submitter hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Val1040Ile Single submitter Inborn genetic diseases ⚠
  • p.Val1191Ile Single submitter hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Val1437Met Single submitter hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Val556Met Single submitter hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Val926Ile Single submitter Inborn genetic diseases ⚠
  • p.Val961Phe Single submitter Inborn genetic diseases ⚠

Benign 91

Benign/Likely benign 30

  • c.1101+12A>T Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • c.1300-18C>G Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • c.1473+12C>T Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • c.1843-10C>A Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • c.268-10dup Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Ala1650= Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Ala32Val Multiple submitters Inborn genetic diseases
  • p.Ala525= Multiple submitters Inborn genetic diseases
  • p.Arg370His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg51= Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Asn1044Lys Multiple submitters Inborn genetic diseases
  • p.Asn1760Lys Multiple submitters Inborn genetic diseases
  • p.Asn255His Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Gln366Arg Multiple submitters Inborn genetic diseases
  • p.Glu1273= Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Gly1320Ser Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Gly1736Val Multiple submitters Inborn genetic diseases
  • p.Gly481Glu Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Gly67= Multiple submitters Inborn genetic diseases
  • p.Ile201Phe Multiple submitters Inborn genetic diseases
  • p.Leu253= Multiple submitters Inborn genetic diseases
  • p.Leu544= Multiple submitters Inborn genetic diseases
  • p.Lys419Asn Multiple submitters Inborn genetic diseases
  • p.Phe16= Multiple submitters Inborn genetic diseases
  • p.Phe1687= Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Pro738Leu Multiple submitters Inborn genetic diseases
  • p.Pro882= Multiple submitters Inborn genetic diseases
  • p.Thr1410= Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Tyr1424= Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Val698= Multiple submitters hereditary sensory and autonomic neuropathy type 7

Likely benign 483

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

  • c.1474-207A>G Multiple submitters
  • c.2403+44C>A Multiple submitters
  • c.2404-19C>T Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • c.267+16G>C Multiple submitters
  • c.3064+20C>T Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • c.3219+19G>A Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • c.3813+18C>G Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • c.386+150G>A Multiple submitters
  • c.386+18C>A Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • c.4056+141C>T Multiple submitters
  • c.4056+17G>A Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • c.4056+29G>T Multiple submitters
  • c.4327+15C>A Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • c.4327+19C>G Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • c.4327+259T>C Multiple submitters
  • c.617+202T>A Multiple submitters
  • c.712+62A>G Multiple submitters
  • c.*100C>A Multiple submitters
  • p.Ala1157= Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Ala1385Thr Multiple submitters Inborn genetic diseases
  • p.Ala151= Multiple submitters Inborn genetic diseases
  • p.Ala1691Thr Multiple submitters Inborn genetic diseases
  • p.Ala1743= Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Ala268= Multiple submitters Inborn genetic diseases
  • p.Ala522= Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Ala780= Multiple submitters familial episodic pain syndrome with predominantly lower limb involvement
  • p.Ala782= Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Ala920= Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Arg1469= Multiple submitters Inborn genetic diseases
  • p.Arg910Thr Multiple submitters Inborn genetic diseases
  • p.Asn255= Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Asn772= Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Asn820Tyr Multiple submitters Inborn genetic diseases
  • p.Asp924Asn Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Cys1543Tyr Multiple submitters Inborn genetic diseases
  • p.Cys164= Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Cys560Ser Multiple submitters Inborn genetic diseases
  • p.Cys766= Multiple submitters Inborn genetic diseases
  • p.Gln34= Multiple submitters Inborn genetic diseases
  • p.Glu1628= Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Glu1708= Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Glu548= Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Glu896Asp Multiple submitters Inborn genetic diseases
  • p.Gly1428= Multiple submitters Inborn genetic diseases
  • p.Gly1696Ser Multiple submitters Inborn genetic diseases
  • p.Ile118Met Multiple submitters Inborn genetic diseases
  • p.Ile136= Multiple submitters familial episodic pain syndrome with predominantly lower limb involvement
  • p.Ile141= Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Ile1528= Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Ile1594= Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Ile33= Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Ile621Met Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Ile694= Multiple submitters Inborn genetic diseases
  • p.Leu1503= Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Leu1653= Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Leu247= Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Leu56= Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Leu564= Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Leu631= Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Leu650Phe Multiple submitters familial episodic pain syndrome with predominantly lower limb involvement
  • p.Leu708= Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Leu811= Multiple submitters Inborn genetic diseases
  • p.Leu850Pro Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Lys1338= Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Phe10= Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Phe843= Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Pro1028= Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Pro455= Multiple submitters Inborn genetic diseases
  • p.Pro48Arg Multiple submitters familial episodic pain syndrome with predominantly lower limb involvement
  • p.Ser126= Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Ser234= Multiple submitters Inborn genetic diseases
  • p.Thr1609Ala Multiple submitters Inborn genetic diseases
  • p.Thr1728= Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Thr957= Multiple submitters Inborn genetic diseases
  • p.Val1289Ile Multiple submitters Inborn genetic diseases
  • p.Val1359= Multiple submitters Inborn genetic diseases
  • p.Val1436= Multiple submitters Inborn genetic diseases
  • p.Val1659= Multiple submitters Inborn genetic diseases
  • c.1101+16T>C Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.1101+17C>T Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.1101+20T>C Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.1102-10T>A Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.1102-19C>T Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.1102-5T>C Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.1299+285C>T Single submitter
  • c.1299+8C>T Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.1299+9A>C Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.1299+9A>G Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.1300-10C>T Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.1300-17T>C Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.1300-9A>C Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.1473+147T>C Single submitter
  • c.1473+14A>G Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.1473+31A>G Single submitter
  • c.1473+7C>A Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.1474-12C>T Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.1474-20C>G Single submitter
  • c.1474-20C>T Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.1474-5T>G Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.1603+16C>T Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.1604-10T>C Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.1604-16G>A Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.1604-18T>C Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.1604-18T>G Single submitter familial episodic pain syndrome with predominantly lower limb involvement
  • c.1604-19C>T Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.1604-202G>A Single submitter
  • c.1604-9C>T Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.1842+12C>G Single submitter familial episodic pain syndrome with predominantly lower limb involvement
  • c.1842+17_1842+18insAACATTACACTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATC Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.1842+204G>A Single submitter
  • c.1842+8T>G Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.1843-13T>C Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.1843-8C>G Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.2022+11T>A Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.2022+12dup Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.2022+9C>T Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.2023-14G>T Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.2023-18T>G Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.2023-268C>A Single submitter
  • c.2403+13G>A Single submitter familial episodic pain syndrome with predominantly lower limb involvement
  • c.2403+18T>A Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.2404-8A>G Single submitter familial episodic pain syndrome with predominantly lower limb involvement
  • c.2404-9C>T Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.267+14_267+17dup Single submitter
  • c.267+14dup Single submitter
  • c.267+15dup Single submitter
  • c.267+16G>A Single submitter
  • c.267+17_267+18insC Single submitter
  • c.267+17_267+18insGC Single submitter
  • c.267+17_267+18insGGC Single submitter
  • c.267+17_267+18insGGGCG Single submitter
  • c.267+18_267+19insC Single submitter
  • c.267+18G>A Single submitter
  • c.267+19_267+32del Single submitter
  • c.267+19G>C Single submitter
  • c.267+20G>T Single submitter
  • c.267+27del Single submitter
  • c.267+28_267+30dup Single submitter
  • c.267+30G>C Single submitter
  • c.267+33del Single submitter
  • c.267+73G>A Single submitter
  • c.267+7C>A Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.267+8_267+9del Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.267+9T>C Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.268-18del Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.268-263C>T Single submitter
  • c.268-5T>G Single submitter
  • c.2835+17A>G Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.2835+20G>C Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.2836-10T>C Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.2836-14G>T Single submitter familial episodic pain syndrome with predominantly lower limb involvement
  • c.2836-18C>T Single submitter familial episodic pain syndrome with predominantly lower limb involvement
  • c.2836-7G>A Single submitter familial episodic pain syndrome with predominantly lower limb involvement
  • c.2949+17G>T Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.2949+2_2949+14dup Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.2949+8T>C Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.2950-11C>T Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.2950-19G>A Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.2950-20C>G Single submitter familial episodic pain syndrome with predominantly lower limb involvement
  • c.2950-65C>T Single submitter
  • c.3064+11G>A Single submitter familial episodic pain syndrome with predominantly lower limb involvement
  • c.3064+17C>T Single submitter familial episodic pain syndrome with predominantly lower limb involvement
  • c.3064+214G>A Single submitter
  • c.3064+85A>G Single submitter
  • c.3065-11A>T Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.3065-15A>G Single submitter familial episodic pain syndrome with predominantly lower limb involvement
  • c.3065-261C>A Single submitter
  • c.3219+18T>C Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.3219+245A>G Single submitter
  • c.3220-20G>C Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.3220-313A>T Single submitter
  • c.3220-4T>C Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.3220-7A>G Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.3393+11C>T Single submitter familial episodic pain syndrome with predominantly lower limb involvement
  • c.3393+12A>G Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.3393+20_3393+21del Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.3394-15C>G Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.3394-16C>T Single submitter familial episodic pain syndrome with predominantly lower limb involvement
  • c.3394-322G>A Single submitter
  • c.3495+12A>G Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.3495+16G>A Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.3495+18A>G Single submitter familial episodic pain syndrome with predominantly lower limb involvement
  • c.3495+19T>C Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.3759+12C>G Single submitter familial episodic pain syndrome with predominantly lower limb involvement
  • c.3760-12C>A Single submitter familial episodic pain syndrome with predominantly lower limb involvement
  • c.3760-6T>C Single submitter
  • c.3813+17C>G Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.3813+19A>G Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.3813+20T>G Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.3813+7C>T Single submitter familial episodic pain syndrome with predominantly lower limb involvement
  • c.3814-10T>A Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.3814-10T>C Single submitter familial episodic pain syndrome with predominantly lower limb involvement
  • c.3814-12A>C Single submitter familial episodic pain syndrome with predominantly lower limb involvement
  • c.3814-20A>C Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.3814-5A>G Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.386+13T>C Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.386+16A>G Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.386+8T>C Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.387-12G>T Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.387-208G>T Single submitter
  • c.3951+13G>A Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.3952-323G>A Single submitter
  • c.3952-3T>C Single submitter
  • c.3952-47A>T Single submitter
  • c.4056+10A>G Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.4056+11T>C Single submitter familial episodic pain syndrome with predominantly lower limb involvement
  • c.4056+13G>A Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.4056+15A>T Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.4057-10T>C Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.4057-14C>A Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.4057-265T>A Single submitter
  • c.4057-7T>A Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.4057-8T>C Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.4327+15C>G Single submitter familial episodic pain syndrome with predominantly lower limb involvement
  • c.4327+20A>T Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.4328-12C>G Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.4328-12C>T Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.4328-250A>C Single submitter
  • c.617+14A>C Single submitter familial episodic pain syndrome with predominantly lower limb involvement
  • c.617+301_617+302dup Single submitter
  • c.617+8T>C Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.618-128G>A Single submitter
  • c.618-13C>G Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.618-16G>T Single submitter familial episodic pain syndrome with predominantly lower limb involvement
  • c.618-4G>A Single submitter
  • c.618-4G>C Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.618-5T>C Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.712+11C>G Single submitter
  • c.712+13C>T Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.712+20C>T Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.712+276A>G Single submitter
  • c.712+45T>C Single submitter
  • c.712+55T>A Single submitter
  • c.712+9C>T Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.713-14G>A Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.713-16C>T Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.892+10C>G Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.892+13C>A Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.892+15T>C Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.892+15T>G Single submitter familial episodic pain syndrome with predominantly lower limb involvement
  • c.892+176T>C Single submitter
  • c.892+8C>A Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.893-13T>C Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.893-18G>A Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.893-20A>G Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.893-8del Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.959+15A>T Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.960-13T>C Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.960-15_960-12del Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.960-15G>A Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.960-8del Single submitter familial episodic pain syndrome with predominantly lower limb involvement
  • c.-155C>T Single submitter
  • c.-7-389A>G Single submitter
  • p.Ala147= Single submitter hereditary sensory and autonomic neuropathy type 7
  • p.Ala1551= Single submitter hereditary sensory and autonomic neuropathy type 7
  • p.Ala1737= Single submitter familial episodic pain syndrome with predominantly lower limb involvement
  • p.Ala351= Single submitter hereditary sensory and autonomic neuropathy type 7
  • p.Ala411= Single submitter hereditary sensory and autonomic neuropathy type 7
  • p.Ala551= Single submitter hereditary sensory and autonomic neuropathy type 7
  • p.Ala582= Single submitter hereditary sensory and autonomic neuropathy type 7
  • p.Ala603= Single submitter hereditary sensory and autonomic neuropathy type 7
  • p.Ala622= Single submitter hereditary sensory and autonomic neuropathy type 7
  • p.Ala780Thr Single submitter hereditary sensory and autonomic neuropathy type 7
  • p.Ala835= Single submitter familial episodic pain syndrome with predominantly lower limb involvement
  • p.Ala875= Single submitter hereditary sensory and autonomic neuropathy type 7
  • p.Arg1153= Single submitter hereditary sensory and autonomic neuropathy type 7
  • p.Arg1475= Single submitter hereditary sensory and autonomic neuropathy type 7
  • p.Arg14Gln Single submitter hereditary sensory and autonomic neuropathy type 7
  • p.Arg1562= Single submitter hereditary sensory and autonomic neuropathy type 7
  • p.Arg1658= Single submitter
  • p.Arg17= Single submitter hereditary sensory and autonomic neuropathy type 7
  • p.Arg60= Single submitter hereditary sensory and autonomic neuropathy type 7
  • p.Arg747= Single submitter hereditary sensory and autonomic neuropathy type 7
  • p.Arg847= Single submitter hereditary sensory and autonomic neuropathy type 7
  • p.Arg936= Single submitter hereditary sensory and autonomic neuropathy type 7
  • p.Arg98= Single submitter hereditary sensory and autonomic neuropathy type 7
  • p.Asn1242= Single submitter hereditary sensory and autonomic neuropathy type 7
  • p.Asn1499= Single submitter familial episodic pain syndrome with predominantly lower limb involvement
  • p.Asn1606= Single submitter hereditary sensory and autonomic neuropathy type 7
  • p.Asn1715= Single submitter hereditary sensory and autonomic neuropathy type 7
  • p.Asn1764= Single submitter hereditary sensory and autonomic neuropathy type 7
  • p.Asn293= Single submitter hereditary sensory and autonomic neuropathy type 7
  • p.Asn590= Single submitter hereditary sensory and autonomic neuropathy type 7
  • p.Asn728= Single submitter hereditary sensory and autonomic neuropathy type 7
  • p.Asn781= Single submitter hereditary sensory and autonomic neuropathy type 7
  • p.Asn781Ser Single submitter hereditary sensory and autonomic neuropathy type 7
  • p.Asn933= Single submitter hereditary sensory and autonomic neuropathy type 7
  • p.Asp1094= Single submitter hereditary sensory and autonomic neuropathy type 7
  • p.Asp1530= Single submitter hereditary sensory and autonomic neuropathy type 7
  • p.Asp1671= Single submitter hereditary sensory and autonomic neuropathy type 7
  • p.Asp1698= Single submitter familial episodic pain syndrome with predominantly lower limb involvement
  • p.Asp576= Single submitter hereditary sensory and autonomic neuropathy type 7
  • p.Asp632= Single submitter hereditary sensory and autonomic neuropathy type 7
  • p.Asp912= Single submitter hereditary sensory and autonomic neuropathy type 7
  • p.Asp998= Single submitter hereditary sensory and autonomic neuropathy type 7
  • p.Cys1026= Single submitter hereditary sensory and autonomic neuropathy type 7
  • p.Cys1355Phe Single submitter hereditary sensory and autonomic neuropathy type 7
  • p.Cys143= Single submitter hereditary sensory and autonomic neuropathy type 7
  • p.Cys1567= Single submitter hereditary sensory and autonomic neuropathy type 7
  • p.Cys1567Arg Single submitter hereditary sensory and autonomic neuropathy type 7

Uncertain significance 953

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

  • c.1473+6T>C Multiple submitters Inborn genetic diseases
  • c.3220-6T>C Multiple submitters Inborn genetic diseases
  • c.3951+1A>G Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • c.4327+5G>A Multiple submitters Inborn genetic diseases
  • c.960-2A>G Multiple submitters familial episodic pain syndrome with predominantly lower limb involvement
  • p.Ala108Gly Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Ala1151Val Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Ala1393Asp Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Ala147Gly Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Ala1637Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala1688Thr Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Ala174Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Ala229Gly Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Ala296Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala654Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala920Gly Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Arg1046Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1147Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1150Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1150Leu Multiple submitters familial episodic pain syndrome with predominantly lower limb involvement ⚠
  • p.Arg1150Ter Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Arg1156Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1350Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1421Trp Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Arg1466His Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Arg1469Gln Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Arg1478Gln Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Arg1478Trp Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Arg1658Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1679Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg192Ter Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Arg248Cys Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Arg248His Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Arg30Gly Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Arg354Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg500Gly Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Arg500Ter Multiple submitters Inborn genetic diseases
  • p.Arg60Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Arg747Gln Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Arg763Cys Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Arg841Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg859Lys Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Arg889Thr Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Arg982Gly Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Arg982Ter Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Asn155Lys Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Asn1608Ser Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Asn407Ser Multiple submitters familial episodic pain syndrome with predominantly lower limb involvement ⚠
  • p.Asn590Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asn728Ile Multiple submitters familial episodic pain syndrome with predominantly lower limb involvement ⚠
  • p.Asn772Tyr Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Asn953Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Asp12Glu Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Asp1433Val Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Asp1616Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Asp1791His Multiple submitters Inborn genetic diseases ⚠
  • p.Asp645Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Asp80Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Asp925Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Asp932Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Asp972Gly Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Asp986fs Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Asp998Gly Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Cys1049Tyr Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Cys1207Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Cys1355Tyr Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Cys1434Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Cys1790Arg Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Cys288Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Cys844Arg Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Gln1000His Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Gln1315Ter Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Gln1771Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gln272Lys Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Gln426His Multiple submitters Inborn genetic diseases ⚠
  • p.Gln489Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gln493Glu Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Gln562Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gln935Pro Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Gln951Lys Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Glu1162Gly Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Glu1613Lys Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Glu1620Lys Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Glu163= Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Glu1734Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Glu295Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu404Gly Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Glu771delinsAspGly Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Glu771Lys Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Glu779Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Gly1113Arg Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Gly1284Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Gly1695Asp Multiple submitters familial episodic pain syndrome with predominantly lower limb involvement ⚠
  • p.Gly1695Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Gly1786Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Gly314Val Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Gly45del Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Gly462Asp Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Gly475Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Gly640Asp Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Gly825Glu Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.His1079Arg Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.His1099Asn Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.His1789Arg Multiple submitters Inborn genetic diseases ⚠
  • p.His509Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.His748Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Ile111Val Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Ile123Val Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Ile1286Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ile1304Thr Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Ile1370Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Ile1370Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ile1372fs Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Ile1373Val Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Ile1500Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ile1510Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ile1724Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile201Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile207Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ile531Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile643Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile710Met Multiple submitters Inborn genetic diseases ⚠
  • p.Ile794Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ile978Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu494_Leu495insTer Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Leu494Phe Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Leu54Pro Multiple submitters Inborn genetic diseases
  • p.Leu65Phe Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Leu805Phe Multiple submitters familial episodic pain syndrome with predominantly lower limb involvement ⚠
  • p.Leu834Ter Multiple submitters
  • p.Lys1021Gln Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Lys1354Ter Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Lys1416Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Lys1535Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Lys1704Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Lys41Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Lys534Asn Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Lys538Glu Multiple submitters familial episodic pain syndrome with predominantly lower limb involvement ⚠
  • p.Lys607del Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Lys799Glu Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Met1141Val Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Met1541Val Multiple submitters Inborn genetic diseases ⚠
  • p.Met1560Thr Multiple submitters familial episodic pain syndrome with predominantly lower limb involvement ⚠
  • p.Met1703Lys Multiple submitters familial episodic pain syndrome with predominantly lower limb involvement ⚠
  • p.Met1703Val Multiple submitters Inborn genetic diseases ⚠
  • p.Met1706Val Multiple submitters Inborn genetic diseases ⚠
  • p.Met312Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Met352Val Multiple submitters Inborn genetic diseases ⚠
  • p.Met657Ile Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Met777Val Multiple submitters Inborn genetic diseases ⚠
  • p.Met887Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Met92Ile Multiple submitters Inborn genetic diseases
  • p.Met92Val Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Phe1114Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Phe1519Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Phe1537fs Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Phe1623Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Phe261fs Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Phe593Leu Multiple submitters familial episodic pain syndrome with predominantly lower limb involvement ⚠
  • p.Phe715Val Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Phe806del Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Pro1015Ser Multiple submitters familial episodic pain syndrome with predominantly lower limb involvement ⚠
  • p.Pro1028Gln Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Pro1028Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro1344His Multiple submitters Inborn genetic diseases ⚠
  • p.Pro1656Ala Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Pro1673Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Pro220Thr Multiple submitters familial episodic pain syndrome with predominantly lower limb involvement ⚠
  • p.Pro48Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro542Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Pro63Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ser1374Gly Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Ser1496Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Ser285Leu Multiple submitters familial episodic pain syndrome with predominantly lower limb involvement ⚠
  • p.Ser285Trp Multiple submitters familial episodic pain syndrome with predominantly lower limb involvement ⚠
  • p.Ser468Tyr Multiple submitters familial episodic pain syndrome with predominantly lower limb involvement ⚠
  • p.Ser474Cys Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Ser703Arg Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Ser726Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Ser729Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Ser877Ile Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Ser891Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Ser902Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Ser970Ala Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Ser989Gly Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Thr1136Asn Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Thr1444Ala Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Thr584Ser Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Thr689Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Thr849Ala Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Thr849Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Thr901Asn Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Thr957Met Multiple submitters Inborn genetic diseases ⚠
  • p.Trp361Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Trp915Cys Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Tyr1264Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr1264His Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Tyr1721Cys Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Val1306Ile Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Val1359Met Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Val235Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val243Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val399del Multiple submitters hereditary sensory and autonomic neuropathy type 7
  • p.Val526Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Val648Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val698Ala Multiple submitters hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Val761Glu Multiple submitters Inborn genetic diseases ⚠
  • c.1101+1G>A Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.1101+6_1101+9del Single submitter familial episodic pain syndrome with predominantly lower limb involvement
  • c.1101+6C>G Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.1299+2T>C Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.1300-8A>G Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.1604-17C>A Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.1604-1G>A Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.1843-2A>G Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.2022+2T>C Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.2403+5G>A Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.2403+6T>C Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.2404-20G>T Single submitter familial episodic pain syndrome with predominantly lower limb involvement
  • c.267+17G>C Single submitter
  • c.267+5T>C Single submitter Inborn genetic diseases
  • c.2835+3A>G Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.2950-1G>A Single submitter familial episodic pain syndrome with predominantly lower limb involvement
  • c.2950-5T>A Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.3064+4A>G Single submitter familial episodic pain syndrome with predominantly lower limb involvement
  • c.3220-3C>G Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.3391_3393+7del Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.3393+1G>A Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.3393+1G>T Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.3393+5G>C Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.3495+1G>A Single submitter familial episodic pain syndrome with predominantly lower limb involvement
  • c.3495+4C>G Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.3495+5A>C Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.3495+5A>G Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.3814-2A>G Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.386+1A>G Single submitter
  • c.386+4T>C Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.386+6C>T Single submitter familial episodic pain syndrome with predominantly lower limb involvement
  • c.387-2A>G Single submitter Inborn genetic diseases
  • c.387-3C>G Single submitter familial episodic pain syndrome with predominantly lower limb involvement
  • c.3952-2A>G Single submitter familial episodic pain syndrome with predominantly lower limb involvement
  • c.4057-1G>A Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.4057-3C>T Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.4327+2T>G Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.4327+6T>A Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.4328-3G>A Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.617+1G>A Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.618-5_618-4insCCCTGTGCTTTGTCTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTCTCGATGTCTTGCGCTCGTGATCCGCCCGCCTCGGCCTCTCTAGGTGCTGGGAGTACAGGCGTGAGCCACCGCGCCCGGCC Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.712+1G>C Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.713-2A>G Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.713-3C>T Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.893-16C>G Single submitter familial episodic pain syndrome with predominantly lower limb involvement
  • c.959+5G>A Single submitter hereditary sensory and autonomic neuropathy type 7
  • c.959+5G>C Single submitter
  • c.960-8A>G Single submitter familial episodic pain syndrome with predominantly lower limb involvement
  • p.Ala1111Val Single submitter familial episodic pain syndrome with predominantly lower limb involvement ⚠
  • p.Ala1157Val Single submitter familial episodic pain syndrome with predominantly lower limb involvement ⚠
  • p.Ala122Thr Single submitter hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Ala1254Glu Single submitter hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Ala1385Ser Single submitter familial episodic pain syndrome with predominantly lower limb involvement ⚠
  • p.Ala1538Ser Single submitter hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Ala1601Pro Single submitter familial episodic pain syndrome with predominantly lower limb involvement ⚠
  • p.Ala1637Ser Single submitter hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Ala1645Pro Single submitter familial episodic pain syndrome with predominantly lower limb involvement ⚠
  • p.Ala1645Thr Single submitter hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Ala1688Ser Single submitter familial episodic pain syndrome with predominantly lower limb involvement ⚠
  • p.Ala1705Glu Single submitter hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Ala1738del Single submitter Inborn genetic diseases
  • p.Ala1738Ser Single submitter hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Ala1743fs Single submitter hereditary sensory and autonomic neuropathy type 7
  • p.Ala174Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala174Val Single submitter Inborn genetic diseases ⚠
  • p.Ala206Val Single submitter hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Ala232fs Single submitter hereditary sensory and autonomic neuropathy type 7
  • p.Ala232Val Single submitter hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Ala245Ser Single submitter hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Ala25Ser Single submitter ⚠
  • p.Ala25Thr Single submitter hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Ala25Val Single submitter ⚠
  • p.Ala268Val Single submitter hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Ala26fs Single submitter hereditary sensory and autonomic neuropathy type 7
  • p.Ala296Pro Single submitter ⚠
  • p.Ala32Pro Single submitter hereditary sensory and autonomic neuropathy type 7
  • p.Ala351fs Single submitter hereditary sensory and autonomic neuropathy type 7
  • p.Ala437Pro Single submitter familial episodic pain syndrome with predominantly lower limb involvement ⚠
  • p.Ala582Asp Single submitter hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Ala582fs Single submitter hereditary sensory and autonomic neuropathy type 7
  • p.Ala58Asp Single submitter hereditary sensory and autonomic neuropathy type 7
  • p.Ala58Pro Single submitter hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Ala622Val Single submitter hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Ala630Val Single submitter hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Ala681Pro Single submitter hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Ala780Gly Single submitter Inborn genetic diseases ⚠
  • p.Ala782Pro Single submitter hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Ala782Thr Single submitter hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Ala827= Single submitter hereditary sensory and autonomic neuropathy type 7
  • p.Ala827Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala827Val Single submitter hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Ala835Ser Single submitter hereditary sensory and autonomic neuropathy type 7 ⚠
  • p.Ala842Pro Single submitter hereditary sensory and autonomic neuropathy type 7