DST — 4010 ClinVar variants

All ClinVar germline DST variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 6 flagged for review →

143 Pathogenic · 7 Pathogenic/Likely pathogenic · 46 Likely pathogenic · 62 Conflicting · 222 Benign · 69 Benign/Likely benign · 1174 Likely benign · 2287 Uncertain significance

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

⚑ Evidence disagreements 6

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

Predicted LoF vs a conflicting call 6

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

DST c.16609-1G>T Conflicting Single submitter
hereditary sensory and autonomic neuropathy type 6
DST p.Arg1250Ter Conflicting Single submitter
hereditary sensory and autonomic neuropathy type 6
DST p.Arg2478Ter Conflicting Single submitter
epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
DST p.Lys2630fs Conflicting Single submitter
hereditary sensory and autonomic neuropathy type 6
DST p.Tyr8fs Conflicting Single submitter
hereditary sensory and autonomic neuropathy type 6
DST p.Arg1249Ter Conflicting No assertion criteria
epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency

All DST variants

Pathogenic 143

p.Ala1128fs Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Ala7253fs Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Arg7329Ter Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Gln1665Ter Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Gln997Ter Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Thr1727fs Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Ala1189fs Single submitter
p.Ala1361fs Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Ala1493fs Single submitter hereditary sensory and autonomic neuropathy type 6
p.Arg1156Ter Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Arg1201Ter Single submitter hereditary sensory and autonomic neuropathy type 6
p.Arg122Ter Single submitter hereditary sensory and autonomic neuropathy type 6
p.Arg1329Ter Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Arg1358Ter Single submitter hereditary sensory and autonomic neuropathy type 6
p.Arg1598Ter Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Arg1696Ter Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Arg3873fs Single submitter DST-related disorder
p.Arg4200fs Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Arg5392Ter Single submitter hereditary sensory and autonomic neuropathy type 6
p.Arg5479Ter Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Arg5594fs Single submitter hereditary sensory and autonomic neuropathy type 6
p.Arg5594Ter Single submitter hereditary sensory and autonomic neuropathy type 6
p.Arg5910fs Single submitter hereditary sensory and autonomic neuropathy type 6
p.Arg6021Ter Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Arg6274fs Single submitter hereditary sensory and autonomic neuropathy type 6
p.Arg7078fs Single submitter hereditary sensory and autonomic neuropathy type 6
p.Arg7615Ter Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Arg796Ter Single submitter hereditary sensory and autonomic neuropathy type 6
p.Asn1339fs Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Asn1786fs Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Asn2130Ter Single submitter
p.Asn5081fs Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Asn5529fs Single submitter hereditary sensory and autonomic neuropathy type 6
p.Asp1380fs Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Asp6492fs Single submitter hereditary sensory and autonomic neuropathy type 6
p.Asp6997fs Single submitter
p.Cys1005Ter Single submitter hereditary sensory and autonomic neuropathy type 6
p.Cys2282fs Single submitter hereditary sensory and autonomic neuropathy type 6
p.Gln1171Ter Single submitter hereditary sensory and autonomic neuropathy type 6
p.Gln1219Ter Single submitter hereditary sensory and autonomic neuropathy type 6
p.Gln1366Ter Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Gln1574Ter Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Gln1591Ter Single submitter hereditary sensory and autonomic neuropathy type 6
p.Gln1741Ter Single submitter hereditary sensory and autonomic neuropathy type 6
p.Gln1749fs Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Gln1806Ter Single submitter hereditary sensory and autonomic neuropathy type 6
p.Gln1815Ter Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Gln1818fs Single submitter hereditary sensory and autonomic neuropathy type 6
p.Gln1852fs Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Gln1859Ter Single submitter hereditary sensory and autonomic neuropathy type 6
p.Gln1952Ter Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Gln2515Ter Single submitter
p.Gln4023Ter Single submitter Inborn genetic diseases
p.Gln5053fs Single submitter Inborn genetic diseases
p.Gln5337Ter Single submitter hereditary sensory and autonomic neuropathy type 6
p.Gln5685Ter Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Gln5751Ter Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Gln5818Ter Single submitter hereditary sensory and autonomic neuropathy type 6
p.Gln5927Ter Single submitter hereditary sensory and autonomic neuropathy type 6
p.Gln6147Ter Single submitter hereditary sensory and autonomic neuropathy type 6
p.Gln6239Ter Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Gln6559Ter Single submitter hereditary sensory and autonomic neuropathy type 6
p.Gln6816Ter Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Gln7288Ter Single submitter hereditary sensory and autonomic neuropathy type 6
p.Glu1215fs Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Glu1384fs Single submitter hereditary sensory and autonomic neuropathy type 6
p.Glu1516fs Single submitter hereditary sensory and autonomic neuropathy type 6
p.Glu1518fs Single submitter hereditary sensory and autonomic neuropathy type 6
p.Glu1551Ter Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Glu1642fs Single submitter hereditary sensory and autonomic neuropathy type 6
p.Glu1693fs Single submitter hereditary sensory and autonomic neuropathy type 6
p.Glu1834fs Single submitter hereditary sensory and autonomic neuropathy type 6
p.Glu4099Ter Single submitter Inborn genetic diseases
p.Glu4845Ter Single submitter hereditary sensory and autonomic neuropathy type 6
p.Glu5012Ter Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Glu5513fs Single submitter hereditary sensory and autonomic neuropathy type 6
p.Glu5645fs Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Glu6752Ter Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Glu7574Ter Single submitter hereditary sensory and autonomic neuropathy type 6
p.Gly5121fs Single submitter hereditary sensory and autonomic neuropathy type 6
p.Gly5522fs Single submitter Inborn genetic diseases
p.Gly6223fs Single submitter hereditary sensory and autonomic neuropathy type 6
p.Ile1593fs Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Ile3550fs Single submitter hereditary sensory and autonomic neuropathy type 6
p.Ile6447fs Single submitter hereditary sensory and autonomic neuropathy type 6
p.Leu1305fs Single submitter hereditary sensory and autonomic neuropathy type 6
p.Leu1588Ter Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Leu1602Ter Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Leu1725fs Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Leu1732fs Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Leu2138Ter Single submitter
p.Leu4726Ter Single submitter hereditary sensory and autonomic neuropathy type 6
p.Leu6545Ter Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Leu7156fs Single submitter hereditary sensory and autonomic neuropathy type 6
p.Leu7fs Single submitter hereditary sensory and autonomic neuropathy type 6
p.Lys1154Ter Single submitter hereditary sensory and autonomic neuropathy type 6
p.Lys1421fs Single submitter hereditary sensory and autonomic neuropathy type 6
p.Lys1760fs Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Lys1984fs Single submitter hereditary sensory and autonomic neuropathy type 6
p.Lys6061fs Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Met6809fs Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Phe4492_Leu4493insTer Single submitter Inborn genetic diseases
p.Pro1910fs Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Pro1950_Val1951insTer Single submitter congenital contractures
p.Pro7336fs Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Ser1557fs Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Ser1693fs Single submitter hereditary sensory and autonomic neuropathy type 6
p.Ser4309fs Single submitter Inborn genetic diseases
p.Ser4401fs Single submitter hereditary sensory and autonomic neuropathy type 6
p.Ser6658Ter Single submitter hereditary sensory and autonomic neuropathy type 6
p.Ser719Ter Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Thr1137fs Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Thr1329_Cys1330insTer Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Thr1397fs Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Thr1619fs Single submitter hereditary sensory and autonomic neuropathy type 6
p.Thr1727_Ile1728insTer Single submitter hereditary sensory and autonomic neuropathy type 6
p.Thr4570Ter Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Thr5177fs Single submitter Inborn genetic diseases
p.Thr6607fs Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Thr6685fs Single submitter hereditary sensory and autonomic neuropathy type 6
p.Trp1177fs Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Trp4383Ter Single submitter hereditary sensory and autonomic neuropathy type 6
p.Trp4686Ter Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Trp4739Ter Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Trp4941Ter Single submitter hereditary sensory and autonomic neuropathy type 6
p.Trp6003Ter Single submitter hereditary sensory and autonomic neuropathy type 6
p.Trp6163Ter Single submitter hereditary sensory and autonomic neuropathy type 6
p.Trp7148Ter Single submitter hereditary sensory and autonomic neuropathy type 6
p.Trp7548Ter Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Tyr1958Ter Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Tyr4240_Lys4242delinsTer Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Tyr7402fs Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Val1363Ter Single submitter hereditary sensory and autonomic neuropathy type 6
p.Val5620fs Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.687+1G>A No assertion criteria hereditary sensory and autonomic neuropathy type 6
c.905A>G No assertion criteria hereditary sensory and autonomic neuropathy type 6
p.Arg206Trp No assertion criteria hereditary sensory and autonomic neuropathy type 6
p.Asn3099fs No assertion criteria congenital myopathy 29 with contractures
p.Gln3326Ter No assertion criteria congenital myopathy 29 with contractures
p.Leu2477fs No assertion criteria epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Leu3636fs No assertion criteria congenital myopathy 29 with contractures
p.Tyr2366Ter No assertion criteria epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Tyr2613Ter No assertion criteria congenital myopathy 29 with contractures

Pathogenic/Likely pathogenic 7

p.Arg1512Ter Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Cys1828Ter Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Gln1124Ter Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Trp5072Ter Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Tyr1196fs Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Ala203Glu No assertion criteria hereditary sensory and autonomic neuropathy type 6
p.Lys6449Ter No assertion criteria hereditary sensory and autonomic neuropathy type 6

Likely pathogenic 46

c.22959+1G>A Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Arg22Ter Multiple submitters hereditary sensory and autonomic neuropathy type 6
c.11928+1G>A Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.13236+1G>A Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.16608+1G>A Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.17595+1G>A Single submitter hereditary sensory and autonomic neuropathy type 6
c.17680+1G>A Single submitter Inborn genetic diseases
c.17923-2A>G Single submitter hereditary sensory and autonomic neuropathy type 6
c.18249+1G>C Single submitter hereditary sensory and autonomic neuropathy type 6
c.18577-2del Single submitter hereditary sensory and autonomic neuropathy type 6
c.19012+1G>A Single submitter hereditary sensory and autonomic neuropathy type 6
c.19464+1G>A Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.19567-29_19570del Single submitter hereditary sensory and autonomic neuropathy type 6
c.19740+2T>C Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.20095-1G>C Single submitter hereditary sensory and autonomic neuropathy type 6
c.20757+1G>A Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.21048-1G>T Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.21208-2A>T Single submitter hereditary sensory and autonomic neuropathy type 6
c.21403-1G>A Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.217-1G>A Single submitter
c.22476+1G>A Single submitter hereditary sensory and autonomic neuropathy type 6
c.22569+2T>C Single submitter hereditary sensory and autonomic neuropathy type 6
c.22960-2A>C Single submitter hereditary sensory and autonomic neuropathy type 6
c.23071-2A>G Single submitter hereditary sensory and autonomic neuropathy type 6
c.2619+1G>A Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.2859+1G>A Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.3061-2A>T Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.3187-2A>G Single submitter hereditary sensory and autonomic neuropathy type 6
c.3622-2A>G Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.4278_4281+1del Single submitter hereditary sensory and autonomic neuropathy type 6
c.4281+1G>A Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Arg2290Ter Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Gln1303Ter Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Gln1898Ter Single submitter hereditary sensory and autonomic neuropathy type 6
p.Gln4999Ter Single submitter hereditary sensory and autonomic neuropathy type 6
p.Glu4519Ter Single submitter
p.Glu5952Ter Single submitter lethal congenital contracture syndrome 12
p.Ile2902fs Single submitter hereditary sensory and autonomic neuropathy type 6
p.Leu1891Ter Single submitter DST-related disorder
p.Leu7520fs Single submitter hereditary sensory and autonomic neuropathy type 6
p.Lys3007fs Single submitter DST-related disorder
p.Phe2132_Leu2133insTer Single submitter
p.Pro7801Leu Single submitter hereditary sensory and autonomic neuropathy type 6
p.Tyr2302fs Single submitter
p.His1441Arg No assertion criteria multiple sclerosis
p.Trp5179fs No assertion criteria

Conflicting classifications of pathogenicity 62

c.14441-7_14441-6del Single submitter Inborn genetic diseases
c.16609-1G>T Single submitter hereditary sensory and autonomic neuropathy type 6 ⚠
c.23195-6C>T Single submitter hereditary sensory and autonomic neuropathy type 6
c.2860-4G>C Single submitter Inborn genetic diseases
c.2965-6T>C Single submitter Inborn genetic diseases
c.3061-6C>T Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Ala7679Ser Single submitter hereditary sensory and autonomic neuropathy type 6
p.Arg1250Ter Single submitter hereditary sensory and autonomic neuropathy type 6 ⚠
p.Arg1329Gln Single submitter hereditary sensory and autonomic neuropathy type 6
p.Arg2290Gly Single submitter hereditary sensory and autonomic neuropathy type 6
p.Arg2467His Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Arg2478Ter Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency ⚠
p.Arg4227His Single submitter hereditary sensory and autonomic neuropathy type 6
p.Arg5656Gln Single submitter Inborn genetic diseases
p.Arg6145Trp Single submitter hereditary sensory and autonomic neuropathy type 6
p.Arg6718His Single submitter hereditary sensory and autonomic neuropathy type 6
p.Arg681His Single submitter hereditary sensory and autonomic neuropathy type 6
p.Arg7399Cys Single submitter hereditary sensory and autonomic neuropathy type 6
p.Arg7783Thr Single submitter Inborn genetic diseases
p.Arg835His Single submitter hereditary sensory and autonomic neuropathy type 6
p.Asn1195= Single submitter hereditary sensory and autonomic neuropathy type 6
p.Asn1285Asp Single submitter hereditary sensory and autonomic neuropathy type 6
p.Asn6813Ser Single submitter hereditary sensory and autonomic neuropathy type 6
p.Asn6992Ser Single submitter Inborn genetic diseases
p.Asp1715= Single submitter hereditary sensory and autonomic neuropathy type 6
p.Gln1354Lys Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Gln1591Pro Single submitter hereditary sensory and autonomic neuropathy type 6
p.Glu1112Asp Single submitter Inborn genetic diseases
p.Glu1444Lys Single submitter Inborn genetic diseases
p.Glu4832Gly Single submitter Inborn genetic diseases
p.Glu5163Asp Single submitter hereditary sensory and autonomic neuropathy type 6
p.Glu5965Ala Single submitter hereditary sensory and autonomic neuropathy type 6
p.Gly2564= Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Ile2244Asn Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Ile248Val Single submitter Inborn genetic diseases
p.Ile4015Phe Single submitter Inborn genetic diseases
p.Ile4080Val Single submitter Inborn genetic diseases
p.Ile4425Val Single submitter Inborn genetic diseases
p.Leu4454Ser Single submitter hereditary sensory and autonomic neuropathy type 6
p.Lys1296Glu Single submitter hereditary sensory and autonomic neuropathy type 6
p.Lys2630fs Single submitter hereditary sensory and autonomic neuropathy type 6 ⚠
p.Lys3981Gln Single submitter Inborn genetic diseases
p.Lys6472Arg Single submitter Inborn genetic diseases
p.Lys7811Arg Single submitter hereditary sensory and autonomic neuropathy type 6
p.Met1146Val Single submitter hereditary sensory and autonomic neuropathy type 6
p.Met709Val Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Met7180Val Single submitter Inborn genetic diseases
p.Phe5103Leu Single submitter hereditary sensory and autonomic neuropathy type 6
p.Pro5632= Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Ser1735Gly Single submitter Inborn genetic diseases
p.Ser5263Asn Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Ser5499Cys Single submitter hereditary sensory and autonomic neuropathy type 6
p.Ser624= Single submitter Inborn genetic diseases
p.Ser902Cys Single submitter Inborn genetic diseases
p.Thr1350Met Single submitter hereditary sensory and autonomic neuropathy type 6
p.Thr5149Ile Single submitter Inborn genetic diseases
p.Thr877Ile Single submitter Inborn genetic diseases
p.Tyr3893= Single submitter hereditary sensory and autonomic neuropathy type 6
p.Tyr8fs Single submitter hereditary sensory and autonomic neuropathy type 6 ⚠
p.Val4216Asp Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Val7200Ile Single submitter hereditary sensory and autonomic neuropathy type 6
p.Arg1249Ter No assertion criteria epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency ⚠

Benign 222

c.14006-6T>C Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.14068+5G>A Multiple submitters hereditary sensory and autonomic neuropathy type 6
c.2491-6C>T Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Ala5677Val Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Ala7689Thr Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Arg4914His Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Arg5287= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Asp6035= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Asp6344Asn Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Gln1748Pro Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Gln3931Arg Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Gln4847= Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Glu6228= Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Leu251= Multiple submitters
p.Leu33Ser Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Leu5466= Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Leu6993Val Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Leu790= Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Lys1358= Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Lys4725Arg Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Met5436Ile Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Pro98= Multiple submitters
p.Ser4724Pro Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Ser840= Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Thr5349Ala Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Tyr457= Multiple submitters
p.Val2011Leu Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Val5041Ile Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Val99Met Multiple submitters
c.11542-12dup Single submitter hereditary sensory and autonomic neuropathy type 6
c.11542-317G>A Single submitter
c.11694+11G>T Single submitter hereditary sensory and autonomic neuropathy type 6
c.11694+16C>G Single submitter hereditary sensory and autonomic neuropathy type 6
c.11695-90_11695-89del Single submitter
c.11929-36C>T Single submitter
c.1214+300A>G Single submitter
c.12196-62A>G Single submitter
c.12903+179_12903+180dup Single submitter
c.12903+179dup Single submitter
c.12903+200del Single submitter
c.12903+233A>C Single submitter
c.12903+259G>T Single submitter
c.13027+245A>G Single submitter
c.13028-273del Single submitter
c.13236+20del Single submitter hereditary sensory and autonomic neuropathy type 6
c.13237-213G>C Single submitter
c.13237-40G>A Single submitter
c.13554+80A>G Single submitter
c.13555-172T>G Single submitter
c.13721+125A>G Single submitter
c.13721+253C>T Single submitter
c.13722-147T>A Single submitter
c.13722-291T>A Single submitter
c.13879-329C>G Single submitter
c.14006-98_14006-97insTTTCAACACTCA Single submitter
c.14069-16T>G Single submitter hereditary sensory and autonomic neuropathy type 6
c.14069-215C>T Single submitter
c.14310+135T>C Single submitter
c.14310+185A>T Single submitter
c.14310+206C>T Single submitter
c.14311-19A>G Single submitter hereditary sensory and autonomic neuropathy type 6
c.14311-63T>C Single submitter
c.1434+239C>T Single submitter
c.14440+242A>C Single submitter
c.14441-8del Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.14441-8dup Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.1554+37A>G Single submitter
c.16608+13T>C Single submitter hereditary sensory and autonomic neuropathy type 6
c.16609-151T>C Single submitter
c.16609-261C>T Single submitter
c.16609-9dup Single submitter hereditary sensory and autonomic neuropathy type 6
c.16770+17del Single submitter hereditary sensory and autonomic neuropathy type 6
c.16941+105G>A Single submitter
c.16941+189T>A Single submitter
c.16941+283G>T Single submitter
c.16942-83C>T Single submitter
c.17109-120G>T Single submitter
c.17269-97T>A Single submitter
c.17595+73A>G Single submitter
c.1778+138C>T Single submitter
c.17923-120G>C Single submitter
c.182-229C>G Single submitter
c.182-89A>G Single submitter
c.18357+84C>T Single submitter
c.18358-16T>C Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.18576+182_18576+183del Single submitter
c.18576+285T>C Single submitter
c.1872+73A>G Single submitter
c.18781-339A>G Single submitter
c.18781-83G>T Single submitter
c.19240-111T>C Single submitter
c.19465-106T>C Single submitter
c.19740+141C>T Single submitter
c.19740+33A>C Single submitter
c.19896+64T>C Single submitter
c.20223+326G>A Single submitter
c.20224-56G>T Single submitter
c.2027+211G>A Single submitter
c.20395-234A>G Single submitter
c.20550+48_20550+49dup Single submitter
c.20550+48dup Single submitter
c.20550+63del Single submitter
c.20551-10del Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.20551-16dup Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.20758-260T>G Single submitter
c.21048-70A>T Single submitter
c.21207+150G>A Single submitter
c.21208-25A>G Single submitter
c.21403-195dup Single submitter
c.21403-23TG[18] Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.21403-23TG[6] Single submitter hereditary sensory and autonomic neuropathy type 6
c.216+48C>T Single submitter
c.21675+162C>A Single submitter
c.21676-15_21676-14del Single submitter hereditary sensory and autonomic neuropathy type 6
c.217-270dup Single submitter
c.21864+144C>T Single submitter
c.21864+232C>T Single submitter
c.21994+107C>A Single submitter
c.21995-113del Single submitter
c.21995-18G>A Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.22321+13A>G Single submitter hereditary sensory and autonomic neuropathy type 6
c.22322-224A>G Single submitter
c.22551+162del Single submitter
c.22551+87T>A Single submitter
c.22570-17C>G Single submitter hereditary sensory and autonomic neuropathy type 6
c.22687+143A>G Single submitter
c.22687+15A>C Single submitter hereditary sensory and autonomic neuropathy type 6
c.22687+193dup Single submitter
c.22687+194T>C Single submitter
c.22687+209_22687+210del Single submitter
c.22687+210del Single submitter
c.22760-207G>A Single submitter
c.23195-114T>C Single submitter
c.2490+9del Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.2619+16dup Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.2697+16del Single submitter hereditary sensory and autonomic neuropathy type 6
c.2697+16dup Single submitter hereditary sensory and autonomic neuropathy type 6
c.3060+184A>G Single submitter
c.3186+243G>A Single submitter
c.3340-91G>C Single submitter
c.3494+71A>G Single submitter
c.3495-16C>T Single submitter hereditary sensory and autonomic neuropathy type 6
c.3622-158C>A Single submitter
c.3622-159dup Single submitter
c.3622-207_3622-199dup Single submitter
c.3622-207_3622-200dup Single submitter
c.3622-213C>T Single submitter
c.3806-251G>A Single submitter
c.3963+32T>G Single submitter
c.3964-147A>G Single submitter
c.3964-15T>G Single submitter hereditary sensory and autonomic neuropathy type 6
c.3964-70C>A Single submitter
c.417+190_417+193del Single submitter
c.4281+173G>C Single submitter
c.4475+16dup Single submitter hereditary sensory and autonomic neuropathy type 6
c.4476-114G>C Single submitter
c.4722+110T>A Single submitter
c.4722+162C>T Single submitter
c.4722+179C>T Single submitter
c.4722+51C>G Single submitter
c.4723-49T>C Single submitter
c.4831-13del Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.4831-208G>A Single submitter
c.4831-3C>A Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.4831-6T>A Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.4929+284C>T Single submitter
c.4929+3802del Single submitter hereditary sensory and autonomic neuropathy type 6
c.4929+39G>A Single submitter
c.4930-3171C>T Single submitter
c.4930-3354C>G Single submitter
c.4930-3422T>G Single submitter
c.4930-771dup Single submitter
c.4930-772_4930-771dup Single submitter
c.5058+251G>A Single submitter
c.5059-17C>G Single submitter hereditary sensory and autonomic neuropathy type 6
c.5059-238T>C Single submitter
c.5059-62A>T Single submitter
c.5147+123_5147+124insTTTAC Single submitter
c.5147+283C>T Single submitter
c.5147+44A>G Single submitter
c.625+120G>T Single submitter
c.625+7502A>C Single submitter
c.625+7572C>G Single submitter
c.625+7666_625+7672del Single submitter
c.625+7666T>C Single submitter
c.625+7685A>T Single submitter
c.625+7830A>G Single submitter
c.625+8476G>T Single submitter
c.626-200C>T Single submitter
c.626-282GTG[10] Single submitter
c.626-34C>T Single submitter
c.687+259A>G Single submitter
c.877-108A>T Single submitter
c.877-173A>G Single submitter
c.954+56C>T Single submitter
c.954+65A>G Single submitter
c.955-23T>C Single submitter
c.-16TCGCC[3] Single submitter
p.Ala1319= Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Ala6699= Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Arg7373= Single submitter hereditary sensory and autonomic neuropathy type 6
p.Asn6782= Single submitter hereditary sensory and autonomic neuropathy type 6
p.Asp4212= Single submitter hereditary sensory and autonomic neuropathy type 6
p.Asp6847= Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Gln1851= Single submitter hereditary sensory and autonomic neuropathy type 6
p.Gln2317= Single submitter hereditary sensory and autonomic neuropathy type 6
p.Gln6957= Single submitter hereditary sensory and autonomic neuropathy type 6
p.Gln7729= Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Leu1242= Single submitter hereditary sensory and autonomic neuropathy type 6
p.Leu5196= Single submitter hereditary sensory and autonomic neuropathy type 6
p.Leu581= Single submitter
p.Lys2497= Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Lys4206= Single submitter hereditary sensory and autonomic neuropathy type 6
p.Pro7644= Single submitter hereditary sensory and autonomic neuropathy type 6
p.Ser4771= Single submitter hereditary sensory and autonomic neuropathy type 6
p.Ser5058= Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Thr2351= Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Thr5525= Single submitter hereditary sensory and autonomic neuropathy type 6
p.Val1239= Single submitter hereditary sensory and autonomic neuropathy type 6
p.Val1337= Single submitter hereditary sensory and autonomic neuropathy type 6
p.Val6448= Single submitter hereditary sensory and autonomic neuropathy type 6
p.Val6638= Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency

Benign/Likely benign 69

c.13028-16G>A Multiple submitters hereditary sensory and autonomic neuropathy type 6
c.13555-17A>G Multiple submitters hereditary sensory and autonomic neuropathy type 6
c.13722-4G>A Multiple submitters hereditary sensory and autonomic neuropathy type 6
c.14311-6T>G Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.14441-7del Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.17108+10A>G Multiple submitters hereditary sensory and autonomic neuropathy type 6
c.17923-10A>G Multiple submitters hereditary sensory and autonomic neuropathy type 6
c.20551-10T>C Multiple submitters hereditary sensory and autonomic neuropathy type 6
c.21403-23TG[19] Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.21675+7G>A Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.21995-18G>C Multiple submitters hereditary sensory and autonomic neuropathy type 6
c.3495-17T>C Multiple submitters hereditary sensory and autonomic neuropathy type 6
c.4475+15T>A Multiple submitters hereditary sensory and autonomic neuropathy type 6
c.4638+16T>A Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.4929+3811G>A Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Ala1430Val Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Ala2194= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Ala2211= Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Ala4717= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Ala7639Val Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Arg1467His Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Arg1615= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Arg9Cys Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Asn1164= Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Asn1484= Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Asn1530Lys Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Asn1685= Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Asn2002= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Asn2402Ser Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Asn4821His Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Asn5441= Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Asn6992= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Asp7435= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Cys5195Tyr Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Cys6133Ser Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Gln1829Glu Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Gln5064Arg Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Glu5190= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.His1116Tyr Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Ile1200= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Ile2589Val Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Leu1558= Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Leu1636= Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Leu4987= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Leu6999= Multiple submitters Inborn genetic diseases
p.Lys1270Arg Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Lys1400= Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Lys4280Arg Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Lys50= Multiple submitters
p.Phe1970Ser Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Phe20Leu Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Pro4607His Multiple submitters Inborn genetic diseases
p.Pro784Ala Multiple submitters Inborn genetic diseases
p.Ser1186Asn Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Ser4771Leu Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Ser752= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Thr2428= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Thr4117= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Thr6550Ala Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Thr7632= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Thr911= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Tyr1810His Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Val1354= Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Val1660= Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Val1664Leu Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Val2166= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Val4533Ala Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Val7141= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Val7686= Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency

Likely benign 1174

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

c.1048-45A>G Multiple submitters
c.11542-8C>T Multiple submitters hereditary sensory and autonomic neuropathy type 6
c.12196-174T>A Multiple submitters
c.12196-91T>G Multiple submitters
c.12903+15A>G Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.14441-7C>T Multiple submitters hereditary sensory and autonomic neuropathy type 6
c.14641-4T>G Multiple submitters Inborn genetic diseases
c.18129+213C>T Multiple submitters
c.18357+171A>G Multiple submitters
c.18357+175C>A Multiple submitters
c.19012+72T>C Multiple submitters
c.19012+89G>A Multiple submitters
c.19464+52C>T Multiple submitters
c.20394+31G>A Multiple submitters
c.21207+144G>A Multiple submitters
c.21402+166A>G Multiple submitters
c.21403-23TG[8] Multiple submitters hereditary sensory and autonomic neuropathy type 6
c.22476+22C>G Multiple submitters
c.22552-79T>G Multiple submitters
c.22569+145C>T Multiple submitters
c.22569+33T>C Multiple submitters
c.23070+145G>A Multiple submitters
c.2964+16G>A Multiple submitters hereditary sensory and autonomic neuropathy type 6
c.2965-72G>A Multiple submitters
c.3186+87G>A Multiple submitters
c.3187-28C>G Multiple submitters
c.3494+84C>G Multiple submitters
c.3806-20A>G Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.3963+87T>C Multiple submitters
c.4143-4T>G Multiple submitters hereditary sensory and autonomic neuropathy type 6
c.4638+7A>T Multiple submitters hereditary sensory and autonomic neuropathy type 6
c.4831-50G>C Multiple submitters
c.4929+110G>A Multiple submitters
c.4929+18G>A Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.4929+81A>G Multiple submitters
c.5148-8T>C Multiple submitters hereditary sensory and autonomic neuropathy type 6
c.5283+106G>A Multiple submitters
c.625+7678A>T Multiple submitters
c.625+7694C>T Multiple submitters
c.625+7700T>C Multiple submitters
c.*253C>A Multiple submitters
p.Ala1125= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Ala1159= Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Ala1654Val Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Ala1686= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Ala2003Thr Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Ala2277= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Ala2379Thr Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Ala4287= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Ala5928= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Ala6233= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Ala6439= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Ala6804= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Ala7152= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Ala7486= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Ala86= Multiple submitters
p.Ala919= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Arg1697= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Arg918Cys Multiple submitters Inborn genetic diseases
p.Asn1666Ile Multiple submitters Inborn genetic diseases
p.Asn1974Ser Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Asn28= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Asp1094= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Asp1233= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Asp4183= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Asp4814Asn Multiple submitters Inborn genetic diseases
p.Asp7459= Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Gln1447= Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Gln1733= Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Gln1784= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Gln2519= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Gln4296= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Gln5551His Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Gln7108= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Glu2405= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Glu6307= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Gly2526= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.His1927Arg Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Ile1208Leu Multiple submitters Inborn genetic diseases
p.Ile1340= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Ile4903= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Leu1290= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Leu1795= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Leu5696= Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Lys1718Thr Multiple submitters Inborn genetic diseases
p.Lys4789= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Lys5002Gln Multiple submitters Inborn genetic diseases
p.Lys5780= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Lys7698= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Phe47= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Phe5275= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Pro7685= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Pro7693= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Pro7740= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Ser6024= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Ser6789= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Thr2134Met Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Thr2613= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Thr4053= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Thr5455= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Thr6716= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Thr7295= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Tyr2366= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Val2125Ile Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Val5411= Multiple submitters hereditary sensory and autonomic neuropathy type 6
c.11694+14T>A Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.11695-10G>A Single submitter hereditary sensory and autonomic neuropathy type 6
c.11928+7A>G Single submitter hereditary sensory and autonomic neuropathy type 6
c.12196-291G>C Single submitter
c.12727-14C>T Single submitter hereditary sensory and autonomic neuropathy type 6
c.12727-94dup Single submitter
c.12903+10_12903+11delinsTT Single submitter hereditary sensory and autonomic neuropathy type 6
c.12903+10G>A Single submitter hereditary sensory and autonomic neuropathy type 6
c.12903+10G>T Single submitter hereditary sensory and autonomic neuropathy type 6
c.12903+179_12903+181dup Single submitter
c.12903+19A>G Single submitter hereditary sensory and autonomic neuropathy type 6
c.12903+19A>T Single submitter hereditary sensory and autonomic neuropathy type 6
c.12903+9_12903+10del Single submitter hereditary sensory and autonomic neuropathy type 6
c.12904-14G>A Single submitter hereditary sensory and autonomic neuropathy type 6
c.12904-15C>T Single submitter hereditary sensory and autonomic neuropathy type 6
c.13027+17C>T Single submitter hereditary sensory and autonomic neuropathy type 6
c.13027+9T>C Single submitter hereditary sensory and autonomic neuropathy type 6
c.13028-161A>G Single submitter
c.13028-17T>G Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.13236+19A>T Single submitter hereditary sensory and autonomic neuropathy type 6
c.13236+46dup Single submitter
c.13237-14T>C Single submitter hereditary sensory and autonomic neuropathy type 6
c.13237-17T>G Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.1328-41A>G Single submitter
c.13554+18C>T Single submitter hereditary sensory and autonomic neuropathy type 6
c.13555-13T>C Single submitter hereditary sensory and autonomic neuropathy type 6
c.13555-20A>T Single submitter hereditary sensory and autonomic neuropathy type 6
c.13721+13T>G Single submitter hereditary sensory and autonomic neuropathy type 6
c.13721+202T>G Single submitter
c.13722-185G>A Single submitter
c.13722-5T>C Single submitter hereditary sensory and autonomic neuropathy type 6
c.13878+210A>C Single submitter
c.13878+8A>G Single submitter hereditary sensory and autonomic neuropathy type 6
c.14005+52T>C Single submitter
c.14068+152T>C Single submitter
c.14068+164A>G Single submitter
c.14068+215del Single submitter
c.14069-12T>C Single submitter hereditary sensory and autonomic neuropathy type 6
c.14069-5C>T Single submitter hereditary sensory and autonomic neuropathy type 6
c.14310+19C>T Single submitter hereditary sensory and autonomic neuropathy type 6
c.14311-20T>G Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.14440+10G>A Single submitter hereditary sensory and autonomic neuropathy type 6
c.14440+11T>C Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.14440+15T>G Single submitter hereditary sensory and autonomic neuropathy type 6
c.14440+63A>G Single submitter
c.14440+8G>A Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.14440+9C>T Single submitter hereditary sensory and autonomic neuropathy type 6
c.14441-10T>C Single submitter hereditary sensory and autonomic neuropathy type 6
c.14640+126G>A Single submitter
c.14640+19C>T Single submitter hereditary sensory and autonomic neuropathy type 6
c.14640+8T>G Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.14641-4T>C Single submitter hereditary sensory and autonomic neuropathy type 6
c.15136+168A>G Single submitter
c.1554+141C>A Single submitter
c.1555-120C>G Single submitter
c.1555-202A>G Single submitter
c.16608+15A>G Single submitter hereditary sensory and autonomic neuropathy type 6
c.16609-14T>C Single submitter hereditary sensory and autonomic neuropathy type 6
c.16609-247T>C Single submitter
c.16609-7A>C Single submitter hereditary sensory and autonomic neuropathy type 6
c.16770+11C>T Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.16770+132A>G Single submitter
c.16770+9C>G Single submitter hereditary sensory and autonomic neuropathy type 6
c.16771-11G>A Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.16941+9G>T Single submitter hereditary sensory and autonomic neuropathy type 6
c.16942-10T>C Single submitter hereditary sensory and autonomic neuropathy type 6
c.16942-157A>C Single submitter
c.16942-212A>G Single submitter
c.17108+105T>C Single submitter
c.17108+9T>C Single submitter hereditary sensory and autonomic neuropathy type 6
c.17109-12G>A Single submitter hereditary sensory and autonomic neuropathy type 6
c.17109-9C>T Single submitter hereditary sensory and autonomic neuropathy type 6
c.17268+7T>C Single submitter hereditary sensory and autonomic neuropathy type 6
c.17596-11T>C Single submitter hereditary sensory and autonomic neuropathy type 6
c.17596-15T>C Single submitter hereditary sensory and autonomic neuropathy type 6
c.17680+21A>G Single submitter
c.17681-19C>T Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.1778+200G>A Single submitter
c.1778+215G>A Single submitter
c.1779-100G>A Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.1779-106T>G Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.1779-108A>T Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.1779-109C>G Single submitter hereditary sensory and autonomic neuropathy type 6
c.1779-16T>C Single submitter hereditary sensory and autonomic neuropathy type 6
c.1779-19_1779-15del Single submitter hereditary sensory and autonomic neuropathy type 6
c.1779-6T>C Single submitter hereditary sensory and autonomic neuropathy type 6
c.1779-8T>C Single submitter hereditary sensory and autonomic neuropathy type 6
c.17922+9T>A Single submitter hereditary sensory and autonomic neuropathy type 6
c.17923-126A>G Single submitter
c.17923-179C>G Single submitter
c.17923-89C>T Single submitter
c.181+9C>A Single submitter
c.18129+12T>C Single submitter hereditary sensory and autonomic neuropathy type 6
c.18249+10T>C Single submitter hereditary sensory and autonomic neuropathy type 6
c.18249+12del Single submitter hereditary sensory and autonomic neuropathy type 6
c.18250-11G>A Single submitter hereditary sensory and autonomic neuropathy type 6
c.18250-11G>T Single submitter hereditary sensory and autonomic neuropathy type 6
c.18250-7A>T Single submitter hereditary sensory and autonomic neuropathy type 6
c.18357+15G>A Single submitter hereditary sensory and autonomic neuropathy type 6
c.18358-13T>C Single submitter hereditary sensory and autonomic neuropathy type 6
c.18358-20T>G Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.18576+10G>A Single submitter hereditary sensory and autonomic neuropathy type 6
c.18577-4A>G Single submitter hereditary sensory and autonomic neuropathy type 6
c.1872+16G>A Single submitter hereditary sensory and autonomic neuropathy type 6
c.1872+20C>G Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.1872+36del Single submitter
c.1872+7T>G Single submitter hereditary sensory and autonomic neuropathy type 6
c.1873-4A>G Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.1873-9A>G Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.18780+14C>G Single submitter hereditary sensory and autonomic neuropathy type 6
c.18780+20A>G Single submitter hereditary sensory and autonomic neuropathy type 6
c.18781-18T>G Single submitter hereditary sensory and autonomic neuropathy type 6
c.19012+15A>G Single submitter hereditary sensory and autonomic neuropathy type 6
c.19013-19A>T Single submitter hereditary sensory and autonomic neuropathy type 6
c.19013-23G>A Single submitter
c.19013-7T>C Single submitter hereditary sensory and autonomic neuropathy type 6
c.19239+10A>T Single submitter hereditary sensory and autonomic neuropathy type 6
c.19240-10C>G Single submitter hereditary sensory and autonomic neuropathy type 6
c.19240-15A>G Single submitter hereditary sensory and autonomic neuropathy type 6
c.19240-77T>C Single submitter
c.19362+8T>G Single submitter hereditary sensory and autonomic neuropathy type 6
c.19363-7C>T Single submitter
c.19464+16T>C Single submitter hereditary sensory and autonomic neuropathy type 6
c.19465-19G>T Single submitter hereditary sensory and autonomic neuropathy type 6
c.19566+11G>A Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.19566+15T>C Single submitter hereditary sensory and autonomic neuropathy type 6
c.19566+55dup Single submitter
c.19566+7G>T Single submitter hereditary sensory and autonomic neuropathy type 6
c.19567-95A>G Single submitter
c.19740+110A>G Single submitter
c.19741-7del Single submitter hereditary sensory and autonomic neuropathy type 6
c.19896+9C>T Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.19897-151A>G Single submitter
c.19897-157C>G Single submitter
c.20094+11G>A Single submitter hereditary sensory and autonomic neuropathy type 6
c.20095-125A>G Single submitter
c.20095-12C>T Single submitter hereditary sensory and autonomic neuropathy type 6
c.20095-24A>C Single submitter
c.20223+20C>G Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.20223+7_20223+8dup Single submitter hereditary sensory and autonomic neuropathy type 6
c.20224-131G>A Single submitter
c.20224-15G>A Single submitter hereditary sensory and autonomic neuropathy type 6
c.2027+12A>G Single submitter hereditary sensory and autonomic neuropathy type 6
c.2027+17T>C Single submitter hereditary sensory and autonomic neuropathy type 6
c.2027+269G>C Single submitter
c.2028-14G>A Single submitter hereditary sensory and autonomic neuropathy type 6
c.2028-19C>T Single submitter hereditary sensory and autonomic neuropathy type 6
c.2028-20C>G Single submitter hereditary sensory and autonomic neuropathy type 6
c.20394+14T>C Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.20394+17A>C Single submitter hereditary sensory and autonomic neuropathy type 6
c.20394+19A>G Single submitter hereditary sensory and autonomic neuropathy type 6
c.20395-17A>C Single submitter hereditary sensory and autonomic neuropathy type 6
c.20395-17A>G Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.20395-211G>C Single submitter
c.20550+64G>T Single submitter
c.21047+9T>A Single submitter hereditary sensory and autonomic neuropathy type 6
c.21048-14A>G Single submitter hereditary sensory and autonomic neuropathy type 6
c.21048-4C>G Single submitter hereditary sensory and autonomic neuropathy type 6
c.21048-5C>T Single submitter hereditary sensory and autonomic neuropathy type 6
c.21402+12G>C Single submitter hereditary sensory and autonomic neuropathy type 6
c.21403-107dup Single submitter
c.21403-23TG[16] Single submitter hereditary sensory and autonomic neuropathy type 6
c.21403-23TG[17] Single submitter hereditary sensory and autonomic neuropathy type 6
c.21403-23TG[20] Single submitter hereditary sensory and autonomic neuropathy type 6
c.21403-23TG[21] Single submitter hereditary sensory and autonomic neuropathy type 6
c.21403-98_21403-97dup Single submitter
c.21531+11T>C Single submitter hereditary sensory and autonomic neuropathy type 6
c.21531+232A>C Single submitter
c.21675+10T>A Single submitter hereditary sensory and autonomic neuropathy type 6
c.21676-6T>C Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.21676-9C>T Single submitter hereditary sensory and autonomic neuropathy type 6
c.217-255del Single submitter
c.21864+13T>A Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.21864+7T>C Single submitter hereditary sensory and autonomic neuropathy type 6
c.21865-20C>T Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.21995-10A>G Single submitter hereditary sensory and autonomic neuropathy type 6
c.22159-163A>G Single submitter
c.22322-20C>T Single submitter hereditary sensory and autonomic neuropathy type 6
c.22476+22C>T Single submitter
c.22477-14A>G Single submitter hereditary sensory and autonomic neuropathy type 6
c.22551+16A>G Single submitter hereditary sensory and autonomic neuropathy type 6
c.22551+18T>A Single submitter hereditary sensory and autonomic neuropathy type 6
c.22551+8T>C Single submitter hereditary sensory and autonomic neuropathy type 6
c.22552-20C>A Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.22552-82G>A Single submitter
c.22570-202dup Single submitter
c.22687+18A>G Single submitter epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.22687+209_22687+210dup Single submitter
c.22959+158G>A Single submitter
c.22960-8C>T Single submitter hereditary sensory and autonomic neuropathy type 6
c.23070+334dup Single submitter
c.23070+7T>G Single submitter hereditary sensory and autonomic neuropathy type 6
c.23071-18G>A Single submitter hereditary sensory and autonomic neuropathy type 6
c.23194+19T>A Single submitter hereditary sensory and autonomic neuropathy type 6
c.23195-202A>G Single submitter

Uncertain significance 2287

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

c.14005+6A>T Multiple submitters hereditary sensory and autonomic neuropathy type 6
c.16770+5T>C Multiple submitters Inborn genetic diseases
c.17108+6T>C Multiple submitters hereditary sensory and autonomic neuropathy type 6
c.17269-3T>A Multiple submitters Inborn genetic diseases
c.17680+6A>T Multiple submitters hereditary sensory and autonomic neuropathy type 6
c.18129+3A>G Multiple submitters Inborn genetic diseases
c.18249+3G>A Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
c.19896+4C>T Multiple submitters Inborn genetic diseases
c.20551-3A>C Multiple submitters hereditary sensory and autonomic neuropathy type 6
c.22959+3A>G Multiple submitters Inborn genetic diseases
c.4142+4T>C Multiple submitters Inborn genetic diseases
p.Ala1125Val Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Ala1349Val Multiple submitters Inborn genetic diseases
p.Ala1452Asp Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Ala1677Pro Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Ala1677Ser Multiple submitters Inborn genetic diseases
p.Ala2175Thr Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Ala3944Asp Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Ala4278Val Multiple submitters Inborn genetic diseases
p.Ala4287Val Multiple submitters Inborn genetic diseases
p.Ala4419Leu Multiple submitters Inborn genetic diseases
p.Ala4717Val Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Ala4803Thr Multiple submitters Inborn genetic diseases
p.Ala5055Thr Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Ala5641Val Multiple submitters Inborn genetic diseases
p.Ala5745Val Multiple submitters Inborn genetic diseases
p.Ala5909Val Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Ala5922Thr Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Ala5928Val Multiple submitters Inborn genetic diseases
p.Ala5980Gly Multiple submitters Inborn genetic diseases
p.Ala6176Thr Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Ala6489= Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Ala6489Val Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Ala6923Thr Multiple submitters Inborn genetic diseases
p.Ala7168Gly Multiple submitters Inborn genetic diseases
p.Ala7221Val Multiple submitters Inborn genetic diseases
p.Ala7230Val Multiple submitters Inborn genetic diseases
p.Arg1041Trp Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Arg1091Lys Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Arg1216Gln Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Arg1284Gln Multiple submitters Inborn genetic diseases
p.Arg1296Gly Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Arg1302Gly Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Arg1404His Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Arg1430Ser Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Arg1464Trp Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Arg1467Cys Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Arg1512Gln Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Arg1584Gln Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Arg1584Trp Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Arg1597Cys Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Arg1598Gln Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Arg1626Cys Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Arg1840His Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Arg1898Gly Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Arg2437Gln Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Arg2518Ter Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Arg383Trp Multiple submitters Inborn genetic diseases
p.Arg3873Cys Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Arg4211_Lys4215del Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Arg4235Gly Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Arg4235Trp Multiple submitters Inborn genetic diseases
p.Arg4359Gln Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Arg4421His Multiple submitters Inborn genetic diseases
p.Arg5392Gln Multiple submitters Inborn genetic diseases
p.Arg5493Cys Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Arg5493His Multiple submitters Inborn genetic diseases
p.Arg5583Gln Multiple submitters Inborn genetic diseases
p.Arg5583Trp Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Arg56His Multiple submitters Inborn genetic diseases
p.Arg593= Multiple submitters Inborn genetic diseases
p.Arg5934Gln Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Arg5934Trp Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Arg6139Ser Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Arg6393Gln Multiple submitters Inborn genetic diseases
p.Arg6469Gln Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Arg653Cys Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Arg6677Cys Multiple submitters Inborn genetic diseases
p.Arg6677His Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Arg6697His Multiple submitters Inborn genetic diseases
p.Arg6834Trp Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Arg6895Leu Multiple submitters Inborn genetic diseases
p.Arg699Cys Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Arg699His Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Arg7087Cys Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Arg7087His Multiple submitters Inborn genetic diseases
p.Arg7090Gln Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Arg7097Gln Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Arg7097Trp Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Arg7113Cys Multiple submitters Inborn genetic diseases
p.Arg7127Trp Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Arg7157His Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Arg7170Gln Multiple submitters Inborn genetic diseases
p.Arg7220Trp Multiple submitters Inborn genetic diseases
p.Arg7430Trp Multiple submitters Inborn genetic diseases
p.Arg757Cys Multiple submitters Inborn genetic diseases
p.Arg757His Multiple submitters Inborn genetic diseases
p.Arg757Leu Multiple submitters Inborn genetic diseases
p.Arg7613Gln Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Arg7660Cys Multiple submitters Inborn genetic diseases
p.Arg7660His Multiple submitters Inborn genetic diseases
p.Arg7739Ter Multiple submitters
p.Arg7743Gln Multiple submitters Inborn genetic diseases
p.Arg7755Cys Multiple submitters Inborn genetic diseases
p.Arg7755His Multiple submitters Inborn genetic diseases
p.Arg7787Gln Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Arg907Trp Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Arg984Gln Multiple submitters Inborn genetic diseases
p.Arg984Trp Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Asn1204Tyr Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Asn1240Ser Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Asn1292Ser Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Asn1468Ser Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Asn3999Asp Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Asn4244Ser Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Asn4336Asp Multiple submitters Inborn genetic diseases
p.Asn4357Ser Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Asn4643Ile Multiple submitters Inborn genetic diseases
p.Asn5230Ser Multiple submitters Inborn genetic diseases
p.Asn5581Ser Multiple submitters Inborn genetic diseases
p.Asn5588Ser Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Asn5766Asp Multiple submitters Inborn genetic diseases
p.Asn5835Ser Multiple submitters Inborn genetic diseases
p.Asn6738Asp Multiple submitters Inborn genetic diseases
p.Asn6795Ser Multiple submitters Inborn genetic diseases
p.Asn6854His Multiple submitters Inborn genetic diseases
p.Asn6854Ser Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Asn7353Asp Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Asn7629Ser Multiple submitters Inborn genetic diseases
p.Asp1056Glu Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Asp1295Val Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Asp1455Gly Multiple submitters Inborn genetic diseases
p.Asp1971Gly Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Asp3865Gly Multiple submitters Inborn genetic diseases
p.Asp4230Glu Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Asp4569Asn Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Asp5091Asn Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Asp5300Asn Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Asp6016Gly Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Asp613Gly Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Asp6234Asn Multiple submitters Inborn genetic diseases
p.Asp7004Gly Multiple submitters Inborn genetic diseases
p.Asp950Asn Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Cys1523Phe Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Cys2080Trp Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Cys37Arg Multiple submitters Inborn genetic diseases
p.Cys5943Tyr Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Gln1627His Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Gln1657Arg Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Gln1728Lys Multiple submitters Inborn genetic diseases
p.Gln1808Arg Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Gln1932His Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Gln1952Arg Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Gln3894Pro Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Gln4296His Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Gln4396Pro Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Gln4629Lys Multiple submitters Inborn genetic diseases
p.Gln4884Glu Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Gln4934Lys Multiple submitters Inborn genetic diseases
p.Gln5337His Multiple submitters Inborn genetic diseases
p.Gln5817Arg Multiple submitters Inborn genetic diseases
p.Gln5868Pro Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Gln6168Pro Multiple submitters Inborn genetic diseases
p.Gln6267His Multiple submitters Inborn genetic diseases
p.Gln6295His Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Gln6614His Multiple submitters Inborn genetic diseases
p.Gln7510His Multiple submitters Inborn genetic diseases
p.Glu1060Asp Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Glu1409Asp Multiple submitters Inborn genetic diseases
p.Glu1551Lys Multiple submitters Inborn genetic diseases
p.Glu1577Lys Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Glu1699Lys Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Glu1947Lys Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Glu4016Gly Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Glu4145Lys Multiple submitters Inborn genetic diseases
p.Glu4158Gly Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Glu4415Lys Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Glu4480Lys Multiple submitters Inborn genetic diseases
p.Glu4601Lys Multiple submitters Inborn genetic diseases
p.Glu4718Val Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Glu5032Lys Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Glu5176Asp Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Glu5512Lys Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Glu5975Lys Multiple submitters Inborn genetic diseases
p.Glu5992Lys Multiple submitters Inborn genetic diseases
p.Glu6059Asp Multiple submitters Inborn genetic diseases
p.Glu6071Asp Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Glu6552Asp Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Glu6599Asp Multiple submitters Inborn genetic diseases
p.Glu6705Lys Multiple submitters Inborn genetic diseases
p.Glu6735Asp Multiple submitters Inborn genetic diseases
p.Glu6751Lys Multiple submitters Inborn genetic diseases
p.Glu6848Lys Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Glu892Ala Multiple submitters Inborn genetic diseases
p.Glu971Gly Multiple submitters Inborn genetic diseases
p.Gly1500Asp Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Gly1678Ala Multiple submitters Inborn genetic diseases
p.Gly2118Cys Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Gly2186Asp Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Gly381Glu Multiple submitters Inborn genetic diseases
p.Gly45Arg Multiple submitters Inborn genetic diseases
p.Gly4619Glu Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Gly4675Val Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Gly5412Glu Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Gly5489Arg Multiple submitters Inborn genetic diseases
p.Gly6008Glu Multiple submitters Inborn genetic diseases
p.Gly6421Glu Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Gly6441Glu Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Gly7604Asp Multiple submitters Inborn genetic diseases
p.Gly7608Cys Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.His1129Asn Multiple submitters Inborn genetic diseases
p.His1653Arg Multiple submitters Inborn genetic diseases
p.His1824Arg Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.His4130Asp Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.His4130Gln Multiple submitters Inborn genetic diseases
p.His4222Arg Multiple submitters Inborn genetic diseases
p.His4463Arg Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.His5100Gln Multiple submitters Inborn genetic diseases
p.His5262Tyr Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.His5770Gln Multiple submitters Inborn genetic diseases
p.His655Pro Multiple submitters Inborn genetic diseases
p.Ile1194Val Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Ile1222Thr Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Ile1280Val Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Ile1337Val Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Ile1423Met Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Ile1867Val Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Ile2017fs Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Ile2139Val Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Ile2184Val Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Ile2255Thr Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Ile2328Val Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Ile2407Val Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Ile4031Val Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Ile5491Val Multiple submitters Inborn genetic diseases
p.Ile5763Val Multiple submitters Inborn genetic diseases
p.Ile5900Leu Multiple submitters Inborn genetic diseases
p.Ile6135Ser Multiple submitters Inborn genetic diseases
p.Ile6170Val Multiple submitters Inborn genetic diseases
p.Ile6171Val Multiple submitters Inborn genetic diseases
p.Ile6656Thr Multiple submitters Inborn genetic diseases
p.Ile7122Val Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Ile7455Val Multiple submitters Inborn genetic diseases
p.Leu1323Pro Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Leu1723Ser Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Leu1744Met Multiple submitters Inborn genetic diseases
p.Leu1921Ser Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Leu2107Val Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Leu2588Pro Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Leu4342Phe Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Leu4500Pro Multiple submitters Inborn genetic diseases
p.Leu4531Val Multiple submitters Inborn genetic diseases
p.Leu4537Phe Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Leu4652Phe Multiple submitters Inborn genetic diseases
p.Leu5136Val Multiple submitters Inborn genetic diseases
p.Leu5261Ile Multiple submitters Inborn genetic diseases
p.Leu5353Phe Multiple submitters Inborn genetic diseases
p.Leu5815Ile Multiple submitters Inborn genetic diseases
p.Leu5925Val Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Leu5935Gln Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Leu622Phe Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Leu651Phe Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Leu6988Arg Multiple submitters Inborn genetic diseases
p.Leu790Phe Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Leu790Trp Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Leu799Arg Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Lys1312Met Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Lys1459Gln Multiple submitters Inborn genetic diseases
p.Lys1466Arg Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Lys1662Thr Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Lys1984Arg Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Lys2150Arg Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Lys2334Arg Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Lys3896Glu Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Lys3902Glu Multiple submitters Inborn genetic diseases
p.Lys3989Glu Multiple submitters Inborn genetic diseases
p.Lys4002Thr Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Lys4070Asn Multiple submitters Inborn genetic diseases
p.Lys4103Glu Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Lys4354Asn Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Lys4605Glu Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Lys5133Arg Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Lys5767Asn Multiple submitters Inborn genetic diseases
p.Lys5978Thr Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Lys6449Arg Multiple submitters Inborn genetic diseases
p.Lys6734Met Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Lys6798Glu Multiple submitters Inborn genetic diseases
p.Lys6850Glu Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Lys6886Arg Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Lys7735Asn Multiple submitters Inborn genetic diseases
p.Met1062Val Multiple submitters Inborn genetic diseases
p.Met1211Val Multiple submitters Inborn genetic diseases
p.Met1374Val Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Met1581Val Multiple submitters hereditary sensory and autonomic neuropathy type 6
p.Met2231Val Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Met4567Ile Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Met4698Leu Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Met4858Thr Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
p.Met4983Leu Multiple submitters Inborn genetic diseases
p.Met4983Val Multiple submitters epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency