HSD17B4 — 1453 ClinVar variants

Pathogenic 59

• p.Arg248Cys Multiple submitters d-bifunctional protein deficiency
• p.Asn457Asp Multiple submitters Perrault syndrome
• p.Asp115fs Multiple submitters d-bifunctional protein deficiency
• p.Gln141Ter Multiple submitters d-bifunctional protein deficiency
• p.Gln677Ter Multiple submitters d-bifunctional protein deficiency
• p.Leu236Ter Multiple submitters Inborn genetic diseases
• p.Thr203fs Multiple submitters d-bifunctional protein deficiency
• c.113-2241A>T Single submitter Monogenic hearing loss
• c.283_302+2delinsATATAAAAAAAGAAAA Single submitter Perrault syndrome
• c.58+1G>C Single submitter d-bifunctional protein deficiency
• p.Ala662fs Single submitter d-bifunctional protein deficiency
• p.Arg121fs Single submitter d-bifunctional protein deficiency
• p.Arg583fs Single submitter d-bifunctional protein deficiency
• p.Arg633fs Single submitter Perrault syndrome
• p.Arg63Ter Single submitter d-bifunctional protein deficiency
• p.Asn500fs Single submitter d-bifunctional protein deficiency
• p.Asn99fs Single submitter d-bifunctional protein deficiency
• p.Asp476fs Single submitter d-bifunctional protein deficiency
• p.Asp527Ter Single submitter d-bifunctional protein deficiency
• p.Gln286fs Single submitter d-bifunctional protein deficiency
• p.Gln383Ter Single submitter d-bifunctional protein deficiency
• p.Glu228Ter Single submitter d-bifunctional protein deficiency
• p.Glu297Ter Single submitter d-bifunctional protein deficiency
• p.Glu412fs Single submitter Perrault syndrome
• p.Glu641Ter Single submitter d-bifunctional protein deficiency
• p.Glu651Ter Single submitter d-bifunctional protein deficiency
• p.Gly240Ter Single submitter d-bifunctional protein deficiency
• p.Gly254Arg Single submitter d-bifunctional protein deficiency
• p.Gly570Ter Single submitter Perrault syndrome
• p.His188fs Single submitter d-bifunctional protein deficiency
• p.His515Gln Single submitter Perrault syndrome 1
• p.Ile147fs Single submitter Perrault syndrome
• p.Leu178Phe Single submitter Perrault syndrome 1
• p.Leu247Ter Single submitter d-bifunctional protein deficiency
• p.Leu411Ter Single submitter Perrault syndrome
• p.Leu531Ter Single submitter d-bifunctional protein deficiency
• p.Lys142fs Single submitter d-bifunctional protein deficiency
• p.Lys451fs Single submitter d-bifunctional protein deficiency
• p.Lys636fs Single submitter d-bifunctional protein deficiency
• p.Lys663fs Single submitter d-bifunctional protein deficiency
• p.Met200fs Single submitter d-bifunctional protein deficiency
• p.Phe526fs Single submitter d-bifunctional protein deficiency
• p.Pro220fs Single submitter d-bifunctional protein deficiency
• p.Pro566fs Single submitter
• p.Ser150Ter Single submitter d-bifunctional protein deficiency
• p.Ser304Ter Single submitter d-bifunctional protein deficiency
• p.Ser475Ter Single submitter d-bifunctional protein deficiency
• p.Thr494fs Single submitter d-bifunctional protein deficiency
• p.Trp243Ter Single submitter d-bifunctional protein deficiency
• p.Trp273Ter Single submitter Perrault syndrome
• p.Trp652fs Single submitter d-bifunctional protein deficiency
• p.Trp652Ter Single submitter d-bifunctional protein deficiency
• p.Tyr410Ter Single submitter d-bifunctional protein deficiency
• p.Val11fs Single submitter d-bifunctional protein deficiency
• c.1212_1261+2del No assertion criteria d-bifunctional protein deficiency
• c.145_220+63del No assertion criteria d-bifunctional protein deficiency
• c.302+3delinsTGTTGTGATTTTTTAGTGAATTGTGTATTTTAGTGATGTGTGTATAATTTTTTTAAAAAGTATATACTTTCCTCCTTTTACCCTATACAACATTGATTT No assertion criteria d-bifunctional protein deficiency
• c.974_1209+1del No assertion criteria d-bifunctional protein deficiency
• p.Arg106Pro No assertion criteria d-bifunctional protein deficiency

Pathogenic/Likely pathogenic 30

• c.1210-1G>A Multiple submitters d-bifunctional protein deficiency
• c.1438-1G>A Multiple submitters d-bifunctional protein deficiency
• c.1768-1G>A Multiple submitters d-bifunctional protein deficiency
• c.1993+1G>A Multiple submitters d-bifunctional protein deficiency
• c.280+2T>C Multiple submitters d-bifunctional protein deficiency
• c.302+1G>A Multiple submitters Perrault syndrome
• c.302+3_302+6del Multiple submitters d-bifunctional protein deficiency
• c.58+1G>T Multiple submitters d-bifunctional protein deficiency
• c.715-1G>A Multiple submitters d-bifunctional protein deficiency
• c.868+1del Multiple submitters d-bifunctional protein deficiency
• p.Ala34Val Multiple submitters d-bifunctional protein deficiency
• p.Arg23Ter Multiple submitters Perrault syndrome
• p.Arg506Cys Multiple submitters d-bifunctional protein deficiency
• p.Arg506His Multiple submitters d-bifunctional protein deficiency
• p.Asn233fs Multiple submitters d-bifunctional protein deficiency
• p.Asn457Tyr Multiple submitters Perrault syndrome
• p.Asp117Val Multiple submitters d-bifunctional protein deficiency
• p.Cys373fs Multiple submitters d-bifunctional protein deficiency
• p.Gln546fs Multiple submitters d-bifunctional protein deficiency
• p.Gln706Ter Multiple submitters d-bifunctional protein deficiency
• p.Gly390Ter Multiple submitters d-bifunctional protein deficiency
• p.His312_Thr313insTer Multiple submitters d-bifunctional protein deficiency
• p.Ile516Thr Multiple submitters Perrault syndrome ⚠
• p.Leu545fs Multiple submitters d-bifunctional protein deficiency
• p.Phe462fs Multiple submitters d-bifunctional protein deficiency
• p.Phe90fs Multiple submitters d-bifunctional protein deficiency
• p.Pro263fs Multiple submitters HSD17B4-related disorder
• p.Tyr568Ter Multiple submitters HSD17B4-related disorder
• p.Val210fs Multiple submitters d-bifunctional protein deficiency
• p.Val218Leu Multiple submitters Perrault syndrome 1

Likely pathogenic 165

• c.1262-1G>A Multiple submitters d-bifunctional protein deficiency
• c.1333+1G>C Multiple submitters Perrault syndrome 1
• c.1503+1G>A Multiple submitters d-bifunctional protein deficiency
• c.1573+1G>A Multiple submitters d-bifunctional protein deficiency
• c.1574-1G>A Multiple submitters d-bifunctional protein deficiency
• c.1994-1G>C Multiple submitters d-bifunctional protein deficiency
• c.303-1G>A Multiple submitters d-bifunctional protein deficiency
• c.59-1G>A Multiple submitters d-bifunctional protein deficiency
• c.623-2A>G Multiple submitters d-bifunctional protein deficiency
• c.739+1G>A Multiple submitters d-bifunctional protein deficiency
• c.739+1G>T Multiple submitters Perrault syndrome
• p.Arg506fs Multiple submitters d-bifunctional protein deficiency
• p.Asn176Asp Multiple submitters Perrault syndrome
• p.His406Tyr Multiple submitters Perrault syndrome
• p.His515Arg Multiple submitters d-bifunctional protein deficiency
• p.Leu405Pro Multiple submitters d-bifunctional protein deficiency
• p.Leu736His Multiple submitters Perrault syndrome 1
• p.Ser291Ter Multiple submitters d-bifunctional protein deficiency
• p.Val204fs Multiple submitters HSD17B4-related disorder
• c.112+1G>A Single submitter d-bifunctional protein deficiency
• c.1261+1G>T Single submitter d-bifunctional protein deficiency
• c.1262-1G>C Single submitter Perrault syndrome
• c.1262-2A>G Single submitter Perrault syndrome
• c.1333+1G>A Single submitter d-bifunctional protein deficiency
• c.1333+1G>T Single submitter d-bifunctional protein deficiency
• c.1334-2A>C Single submitter
• c.1438-1G>C Single submitter d-bifunctional protein deficiency
• c.1438-2A>C Single submitter d-bifunctional protein deficiency
• c.1504-1G>A Single submitter d-bifunctional protein deficiency
• c.1504-2del Single submitter d-bifunctional protein deficiency
• c.1573+1G>T Single submitter d-bifunctional protein deficiency
• c.1574-2A>T Single submitter d-bifunctional protein deficiency
• c.1681-1G>C Single submitter d-bifunctional protein deficiency
• c.1854+2T>C Single submitter d-bifunctional protein deficiency
• c.1993+2T>A Single submitter d-bifunctional protein deficiency
• c.1994-1G>A Single submitter d-bifunctional protein deficiency
• c.1994-2A>G Single submitter d-bifunctional protein deficiency
• c.2121+1G>A Single submitter d-bifunctional protein deficiency
• c.2122-1G>A Single submitter d-bifunctional protein deficiency
• c.221-1G>C Single submitter d-bifunctional protein deficiency
• c.280+1_280+3del Single submitter d-bifunctional protein deficiency
• c.281-2A>G Single submitter d-bifunctional protein deficiency
• c.302+3_307del Single submitter Perrault syndrome 1
• c.303-27_311del Single submitter d-bifunctional protein deficiency
• c.350-1G>A Single submitter d-bifunctional protein deficiency
• c.350-1G>T Single submitter Perrault syndrome
• c.434+1G>C Single submitter
• c.435-2A>G Single submitter d-bifunctional protein deficiency
• c.58+190T>A Single submitter
• c.622+1G>T Single submitter d-bifunctional protein deficiency
• c.623-1G>T Single submitter congenital nervous system disorder
• c.714+1G>C Single submitter Perrault syndrome
• c.739+2T>C Single submitter d-bifunctional protein deficiency
• c.869-1G>T Single submitter d-bifunctional protein deficiency
• c.972+1del Single submitter d-bifunctional protein deficiency
• c.972+1G>A Single submitter d-bifunctional protein deficiency
• p.Ala100fs Single submitter d-bifunctional protein deficiency
• p.Ala100Ser Single submitter Perrault syndrome
• p.Ala175Thr Single submitter d-bifunctional protein deficiency ⚠
• p.Ala196Glu Single submitter d-bifunctional protein deficiency
• p.Ala316fs Single submitter d-bifunctional protein deficiency
• p.Ala491fs Single submitter d-bifunctional protein deficiency
• p.Ala549Glu Single submitter
• p.Ala71fs Single submitter d-bifunctional protein deficiency
• p.Arg132fs Single submitter d-bifunctional protein deficiency
• p.Arg145fs Single submitter d-bifunctional protein deficiency
• p.Arg248Leu Single submitter d-bifunctional protein deficiency
• p.Arg251Leu Single submitter d-bifunctional protein deficiency
• p.Arg92_Ile93insTer Single submitter d-bifunctional protein deficiency
• p.Asn158Asp Single submitter d-bifunctional protein deficiency
• p.Asn659fs Single submitter d-bifunctional protein deficiency
• p.Asn98Asp Single submitter Perrault syndrome
• p.Asn98Ile Single submitter Perrault syndrome
• p.Asn98Lys Single submitter d-bifunctional protein deficiency
• p.Asp360fs Single submitter d-bifunctional protein deficiency
• p.Asp434fs Single submitter d-bifunctional protein deficiency
• p.Asp44fs Single submitter d-bifunctional protein deficiency
• p.Asp56fs Single submitter d-bifunctional protein deficiency
• p.Asp685fs Single submitter d-bifunctional protein deficiency
• p.Cys535Phe Single submitter Perrault syndrome 1
• p.Cys535Ter Single submitter d-bifunctional protein deficiency
• p.Gln289Ter Single submitter Perrault syndrome 1
• p.Gln330fs Single submitter d-bifunctional protein deficiency
• p.Gln330Ter Single submitter Perrault syndrome 1
• p.Gln501Ter Single submitter Perrault syndrome 1
• p.Gln546Ter Single submitter d-bifunctional protein deficiency
• p.Gln727fs Single submitter
• p.Glu250Ter Single submitter HSD17B4-related disorder
• p.Glu341delinsGlyTer Single submitter d-bifunctional protein deficiency
• p.Glu341fs Single submitter d-bifunctional protein deficiency
• p.Glu60fs Single submitter d-bifunctional protein deficiency
• p.Gly234fs Single submitter d-bifunctional protein deficiency
• p.Gly242fs Single submitter d-bifunctional protein deficiency
• p.Gly533Ter Single submitter d-bifunctional protein deficiency
• p.Gly658fs Single submitter d-bifunctional protein deficiency
• p.Gly9fs Single submitter d-bifunctional protein deficiency
• p.His120fs Single submitter d-bifunctional protein deficiency
• p.His123Asp Single submitter Perrault syndrome 1
• p.His532Arg Single submitter d-bifunctional protein deficiency
• p.His532fs Single submitter d-bifunctional protein deficiency
• p.Ile155_Phe159delinsTer Single submitter d-bifunctional protein deficiency
• p.Ile364fs Single submitter d-bifunctional protein deficiency
• p.Ile399fs Single submitter Perrault syndrome 1
• p.Ile484fs Single submitter d-bifunctional protein deficiency
• p.Leu124fs Single submitter d-bifunctional protein deficiency
• p.Leu209fs Single submitter d-bifunctional protein deficiency
• p.Leu213fs Single submitter d-bifunctional protein deficiency
• p.Leu374fs Single submitter d-bifunctional protein deficiency
• p.Leu411fs Single submitter d-bifunctional protein deficiency
• p.Leu499fs Single submitter d-bifunctional protein deficiency
• p.Leu573fs Single submitter d-bifunctional protein deficiency
• p.Lys214fs Single submitter d-bifunctional protein deficiency
• p.Lys275del Single submitter d-bifunctional protein deficiency
• p.Lys579fs Single submitter d-bifunctional protein deficiency
• p.Lys589= Single submitter Perrault syndrome 1
• p.Lys645Ter Single submitter
• p.Lys81Ter Single submitter d-bifunctional protein deficiency
• p.Met1Ile Single submitter Perrault syndrome 1
• p.Met1Leu Single submitter d-bifunctional protein deficiency
• p.Met1Lys Single submitter d-bifunctional protein deficiency
• p.Met1Val Single submitter HSD17B4-related disorder
• p.Met346fs Single submitter
• p.Met443fs Single submitter d-bifunctional protein deficiency
• p.Phe335fs Single submitter d-bifunctional protein deficiency
• p.Phe710fs Single submitter Perrault syndrome 1
• p.Pro194fs Single submitter d-bifunctional protein deficiency
• p.Pro220Leu Single submitter d-bifunctional protein deficiency
• p.Pro334fs Single submitter d-bifunctional protein deficiency
• p.Ser398Ter Single submitter d-bifunctional protein deficiency
• p.Ser475fs Single submitter d-bifunctional protein deficiency
• p.Ser540fs Single submitter d-bifunctional protein deficiency
• p.Ser554fs Single submitter d-bifunctional protein deficiency
• p.Ser691fs Single submitter d-bifunctional protein deficiency
• p.Ser691Ter Single submitter d-bifunctional protein deficiency
• p.Thr15Ala Single submitter d-bifunctional protein deficiency
• p.Thr497fs Single submitter d-bifunctional protein deficiency
• p.Thr615fs Single submitter d-bifunctional protein deficiency
• p.Thr615Ter Single submitter d-bifunctional protein deficiency
• p.Thr687fs Single submitter d-bifunctional protein deficiency
• p.Trp116Arg Single submitter
• p.Trp135Arg Single submitter d-bifunctional protein deficiency
• p.Trp249Ter Single submitter d-bifunctional protein deficiency
• p.Tyr156His Single submitter Perrault syndrome 1
• p.Tyr347fs Single submitter d-bifunctional protein deficiency
• p.Tyr410fs Single submitter d-bifunctional protein deficiency
• p.Tyr414fs Single submitter d-bifunctional protein deficiency
• p.Val14fs Single submitter d-bifunctional protein deficiency
• p.Val218fs Single submitter d-bifunctional protein deficiency
• p.Val379fs Single submitter d-bifunctional protein deficiency
• p.Val97fs Single submitter d-bifunctional protein deficiency
• c.113-1G>T No assertion criteria d-bifunctional protein deficiency
• c.1334-2A>T No assertion criteria d-bifunctional protein deficiency
• c.1504-2A>C No assertion criteria d-bifunctional protein deficiency
• c.1993+2T>G No assertion criteria d-bifunctional protein deficiency
• c.2121+1G>C No assertion criteria d-bifunctional protein deficiency
• c.220+2T>C No assertion criteria d-bifunctional protein deficiency
• c.349+1G>T No assertion criteria d-bifunctional protein deficiency
• c.435-2A>T No assertion criteria d-bifunctional protein deficiency
• c.56_58+3del No assertion criteria d-bifunctional protein deficiency
• c.623-1G>A No assertion criteria d-bifunctional protein deficiency
• c.973-2A>C No assertion criteria d-bifunctional protein deficiency
• p.Ala481fs No assertion criteria d-bifunctional protein deficiency
• p.Leu423Ter No assertion criteria d-bifunctional protein deficiency
• p.Phe237fs No assertion criteria d-bifunctional protein deficiency
• p.Val646fs No assertion criteria d-bifunctional protein deficiency

Conflicting classifications of pathogenicity 71

• c.112+11G>A Single submitter Perrault syndrome 1
• c.112+8G>A Single submitter d-bifunctional protein deficiency
• c.1210-11C>G Single submitter d-bifunctional protein deficiency
• c.1210-8T>C Single submitter Perrault syndrome
• c.1767+4T>C Single submitter Inborn genetic diseases
• c.1768-6_1768-4del Single submitter Perrault syndrome
• c.1855-6T>C Single submitter Inborn genetic diseases
• c.1855-8G>A Single submitter Perrault syndrome
• c.1855-9_1855-7del Single submitter Perrault syndrome
• c.303-11T>A Single submitter d-bifunctional protein deficiency
• c.349+4A>G Single submitter d-bifunctional protein deficiency
• c.622+5G>A Single submitter Perrault syndrome 1
• c.-119C>G Single submitter Perrault syndrome 1
• c.-16G>T Single submitter
• c.*135T>G Single submitter d-bifunctional protein deficiency
• c.*278T>A Single submitter d-bifunctional protein deficiency
• p.Ala167= Single submitter d-bifunctional protein deficiency
• p.Ala196= Single submitter d-bifunctional protein deficiency
• p.Ala196Val Single submitter Perrault syndrome ⚠
• p.Ala271Thr Single submitter d-bifunctional protein deficiency ⚠
• p.Ala427Val Single submitter d-bifunctional protein deficiency ⚠
• p.Ala564Val Single submitter d-bifunctional protein deficiency ⚠
• p.Arg132Trp Single submitter d-bifunctional protein deficiency ⚠
• p.Arg199Trp Single submitter d-bifunctional protein deficiency ⚠
• p.Arg248His Single submitter d-bifunctional protein deficiency ⚠
• p.Arg251Gln Single submitter d-bifunctional protein deficiency ⚠
• p.Arg251Trp Single submitter d-bifunctional protein deficiency ⚠
• p.Arg542Lys Single submitter Perrault syndrome ⚠
• p.Arg543His Single submitter Perrault syndrome ⚠
• p.Arg543Pro Single submitter Perrault syndrome ⚠
• p.Arg562His Single submitter Inborn genetic diseases ⚠
• p.Arg634His Single submitter Inborn genetic diseases ⚠
• p.Asn400Ser Single submitter d-bifunctional protein deficiency ⚠
• p.Asn98Ser Single submitter d-bifunctional protein deficiency ⚠
• p.Asp510Asn Single submitter Perrault syndrome ⚠
• p.Asp74Asn Single submitter d-bifunctional protein deficiency ⚠
• p.Glu426Asp Single submitter HSD17B4-related disorder ⚠
• p.Glu78del Single submitter d-bifunctional protein deficiency
• p.Gly16Ser Single submitter HSD17B4-related disorder ⚠
• p.Gly33= Single submitter Perrault syndrome
• p.Gly378Arg Single submitter d-bifunctional protein deficiency ⚠
• p.Gly389= Single submitter Perrault syndrome
• p.Gly421= Single submitter Perrault syndrome
• p.Gly619= Single submitter Perrault syndrome
• p.Gly9= Single submitter d-bifunctional protein deficiency
• p.His532= Single submitter Perrault syndrome 1
• p.Ile119= Single submitter Perrault syndrome
• p.Ile380Val Single submitter Perrault syndrome ⚠
• p.Ile484Val Single submitter Perrault syndrome ⚠
• p.Leu5Arg Single submitter d-bifunctional protein deficiency ⚠
• p.Leu726Val Single submitter Inborn genetic diseases
• p.Lys557Met Single submitter d-bifunctional protein deficiency ⚠
• p.Lys557Thr Single submitter Inborn genetic diseases ⚠
• p.Lys589Asn Single submitter Perrault syndrome ⚠
• p.Lys681Glu Single submitter Inborn genetic diseases ⚠
• p.Met264Val Single submitter Perrault syndrome ⚠
• p.Met443Leu Single submitter Perrault syndrome ⚠
• p.Phe377= Single submitter Perrault syndrome
• p.Pro4Arg Single submitter Inborn genetic diseases ⚠
• p.Pro513Thr Single submitter HSD17B4-related disorder ⚠
• p.Ser372Phe Single submitter d-bifunctional protein deficiency ⚠
• p.Ser437= Single submitter Perrault syndrome
• p.Ser522Arg Single submitter Perrault syndrome ⚠
• p.Thr317Met Single submitter Perrault syndrome 1 ⚠
• p.Trp578Arg Single submitter d-bifunctional protein deficiency ⚠
• p.Val37Ile Single submitter Inborn genetic diseases ⚠
• p.Val439= Single submitter d-bifunctional protein deficiency
• p.Val643= Single submitter Perrault syndrome 1
• p.Val675= Single submitter d-bifunctional protein deficiency
• c.113-2206T>C No assertion criteria d-bifunctional protein deficiency
• p.Pro513Leu No assertion criteria d-bifunctional protein deficiency ⚠

Benign 82

• c.1210-78T>C Multiple submitters d-bifunctional protein deficiency
• c.1261+47A>G Multiple submitters d-bifunctional protein deficiency
• c.1767+57C>T Multiple submitters d-bifunctional protein deficiency
• c.1993+74G>C Multiple submitters d-bifunctional protein deficiency
• c.2122-34C>T Multiple submitters Perrault syndrome 1
• c.434+120A>G Multiple submitters d-bifunctional protein deficiency
• c.434+44T>C Multiple submitters d-bifunctional protein deficiency
• c.739+23T>C Multiple submitters d-bifunctional protein deficiency
• c.-75C>G Multiple submitters d-bifunctional protein deficiency
• c.*260A>G Multiple submitters d-bifunctional protein deficiency
• c.*6A>G Multiple submitters d-bifunctional protein deficiency
• p.Arg106His Multiple submitters d-bifunctional protein deficiency
• p.Ile559Val Multiple submitters d-bifunctional protein deficiency ⚠
• p.Lys140Asn Multiple submitters d-bifunctional protein deficiency
• p.Met728Val Multiple submitters d-bifunctional protein deficiency
• p.Ser398Pro Multiple submitters d-bifunctional protein deficiency
• p.Thr687Ile Multiple submitters d-bifunctional protein deficiency
• p.Trp511Arg Multiple submitters d-bifunctional protein deficiency ⚠
• p.Tyr733= Multiple submitters d-bifunctional protein deficiency
• p.Val597= Multiple submitters d-bifunctional protein deficiency
• c.113-205T>C Single submitter
• c.113-2467A>G Single submitter
• c.113-69CA[8] Single submitter
• c.1209+17del Single submitter Perrault syndrome
• c.1209+17dup Single submitter d-bifunctional protein deficiency
• c.1210-17del Single submitter d-bifunctional protein deficiency
• c.1261+281G>A Single submitter
• c.1261+46C>T Single submitter
• c.1333+139A>T Single submitter
• c.1334-205T>C Single submitter
• c.1334-229A>T Single submitter
• c.1334-350C>T Single submitter
• c.1334-4del Single submitter d-bifunctional protein deficiency
• c.1437+150G>A Single submitter
• c.1437+200G>A Single submitter
• c.1437+306T>A Single submitter
• c.1503+16dup Single submitter d-bifunctional protein deficiency
• c.1503+22del Single submitter d-bifunctional protein deficiency
• c.1503+254A>G Single submitter
• c.1573+112del Single submitter
• c.1573+247G>A Single submitter
• c.1574-185T>G Single submitter
• c.1574-193_1574-192dup Single submitter
• c.1680+186C>T Single submitter
• c.1680+272_1680+273insGTATATATATAT Single submitter
• c.1681-93T>C Single submitter
• c.1767+18del Single submitter Perrault syndrome
• c.1768-264C>T Single submitter
• c.1855-82T>A Single submitter
• c.1993+163_1993+164insT Single submitter
• c.1993+164_1993+165del Single submitter
• c.1993+164_1993+165insT Single submitter
• c.1993+164_1993+165insTGT Single submitter
• c.1993+164_1993+167del Single submitter
• c.1993+164G>T Single submitter
• c.1993+165GT[15] Single submitter
• c.2121+266T>A Single submitter
• c.2122-182dup Single submitter
• c.2122-52T>G Single submitter
• c.2122-57del Single submitter
• c.280+236C>T Single submitter
• c.280+261A>T Single submitter
• c.281-87G>A Single submitter
• c.281-88C>T Single submitter
• c.302+23del Single submitter Perrault syndrome
• c.349+39T>C Single submitter
• c.350-283G>A Single submitter
• c.58+278C>G Single submitter
• c.59-178G>A Single submitter
• c.59-33C>G Single submitter
• c.622+253del Single submitter
• c.622+261A>G Single submitter
• c.714+73G>C Single submitter
• c.715-13dup Single submitter d-bifunctional protein deficiency
• c.715-158T>A Single submitter
• c.715-194C>T Single submitter
• c.739+20dup Single submitter Perrault syndrome
• c.740-291T>A Single submitter
• c.868+149A>G Single submitter
• c.869-312A>C Single submitter
• c.972+15del Single submitter d-bifunctional protein deficiency
• c.*250dup Single submitter

Benign/Likely benign 15

• c.1503+12T>G Multiple submitters Perrault syndrome
• c.1767+8T>C Multiple submitters d-bifunctional protein deficiency
• c.1994-23T>C Multiple submitters
• c.1994-26C>T Multiple submitters
• c.220+26A>G Multiple submitters
• c.281-7A>G Multiple submitters Perrault syndrome
• c.58+105G>A Multiple submitters
• c.715-13C>T Multiple submitters Perrault syndrome
• c.740-16T>G Multiple submitters d-bifunctional protein deficiency
• c.-27G>C Multiple submitters d-bifunctional protein deficiency
• c.-28C>T Multiple submitters d-bifunctional protein deficiency
• p.Ala353= Multiple submitters Perrault syndrome
• p.Ala491Thr Multiple submitters Perrault syndrome
• p.Thr292Ser Multiple submitters d-bifunctional protein deficiency
• p.Val222= Multiple submitters Perrault syndrome

Likely benign 642

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

• c.113-18C>T Multiple submitters Perrault syndrome
• c.1210-9C>T Multiple submitters d-bifunctional protein deficiency
• c.1261+14A>G Multiple submitters d-bifunctional protein deficiency
• c.1262-172G>A Multiple submitters
• c.1437+25A>C Multiple submitters
• c.1573+95G>C Multiple submitters
• c.1574-16T>G Multiple submitters d-bifunctional protein deficiency
• c.1681-15A>G Multiple submitters d-bifunctional protein deficiency
• c.1681-17A>G Multiple submitters Perrault syndrome
• c.2121+7T>C Multiple submitters Perrault syndrome
• c.349+123A>T Multiple submitters
• c.349+21C>T Multiple submitters
• c.622+111A>G Multiple submitters
• c.622+14C>T Multiple submitters d-bifunctional protein deficiency
• c.622+15T>A Multiple submitters Perrault syndrome
• c.622+16T>G Multiple submitters Perrault syndrome
• c.714+12T>G Multiple submitters d-bifunctional protein deficiency
• c.868+16G>A Multiple submitters d-bifunctional protein deficiency
• p.Ala86= Multiple submitters Perrault syndrome
• p.Arg199= Multiple submitters d-bifunctional protein deficiency
• p.Asn195= Multiple submitters d-bifunctional protein deficiency
• p.Asp88= Multiple submitters Perrault syndrome
• p.Gly18= Multiple submitters d-bifunctional protein deficiency
• p.Gly657= Multiple submitters d-bifunctional protein deficiency
• p.Leu169= Multiple submitters d-bifunctional protein deficiency
• p.Leu374= Multiple submitters d-bifunctional protein deficiency
• p.Leu635= Multiple submitters d-bifunctional protein deficiency
• p.Pro616= Multiple submitters d-bifunctional protein deficiency
• p.Tyr365= Multiple submitters d-bifunctional protein deficiency
• p.Val603= Multiple submitters d-bifunctional protein deficiency
• c.112+15T>G Single submitter Perrault syndrome
• c.112+17T>G Single submitter d-bifunctional protein deficiency
• c.112+202G>A Single submitter
• c.112+50A>C Single submitter
• c.112+7del Single submitter d-bifunctional protein deficiency
• c.113-12T>G Single submitter d-bifunctional protein deficiency
• c.113-15G>C Single submitter d-bifunctional protein deficiency
• c.113-19G>A Single submitter d-bifunctional protein deficiency
• c.113-2032_113-2031del Single submitter
• c.113-2227A>G Single submitter
• c.113-2248T>C Single submitter
• c.113-2260A>G Single submitter
• c.113-53C>T Single submitter
• c.113-7A>G Single submitter d-bifunctional protein deficiency
• c.113-9G>A Single submitter Perrault syndrome
• c.1209+12A>G Single submitter d-bifunctional protein deficiency
• c.1209+14A>G Single submitter d-bifunctional protein deficiency
• c.1209+17A>G Single submitter d-bifunctional protein deficiency
• c.1209+17A>T Single submitter Perrault syndrome
• c.1209+18C>T Single submitter d-bifunctional protein deficiency
• c.1209+19C>G Single submitter d-bifunctional protein deficiency
• c.1209+19C>T Single submitter d-bifunctional protein deficiency
• c.1209+68_1209+72del Single submitter
• c.1209+7C>G Single submitter d-bifunctional protein deficiency
• c.1210-10C>T Single submitter d-bifunctional protein deficiency
• c.1210-7A>G Single submitter Perrault syndrome
• c.1210-9C>G Single submitter d-bifunctional protein deficiency
• c.1261+15T>C Single submitter d-bifunctional protein deficiency
• c.1261+16A>G Single submitter Perrault syndrome
• c.1261+17C>G Single submitter d-bifunctional protein deficiency
• c.1261+17C>T Single submitter d-bifunctional protein deficiency
• c.1261+19A>T Single submitter d-bifunctional protein deficiency
• c.1261+8A>G Single submitter d-bifunctional protein deficiency
• c.1261+9T>C Single submitter Perrault syndrome
• c.1262-10T>G Single submitter Perrault syndrome
• c.1262-15T>A Single submitter Perrault syndrome
• c.1262-15T>G Single submitter d-bifunctional protein deficiency
• c.1262-18T>C Single submitter d-bifunctional protein deficiency
• c.1262-4C>G Single submitter d-bifunctional protein deficiency
• c.1262-4C>T Single submitter d-bifunctional protein deficiency
• c.1262-5dup Single submitter d-bifunctional protein deficiency
• c.1262-6T>G Single submitter d-bifunctional protein deficiency
• c.1262-8C>A Single submitter Perrault syndrome
• c.1262-8C>G Single submitter d-bifunctional protein deficiency
• c.1262-9T>C Single submitter d-bifunctional protein deficiency
• c.1333+13C>G Single submitter d-bifunctional protein deficiency
• c.1333+140C>T Single submitter
• c.1333+15A>G Single submitter d-bifunctional protein deficiency
• c.1333+18C>G Single submitter Perrault syndrome
• c.1333+20T>G Single submitter d-bifunctional protein deficiency
• c.1333+22T>C Single submitter
• c.1333+238A>G Single submitter
• c.1333+7T>G Single submitter d-bifunctional protein deficiency
• c.1333+8A>C Single submitter Perrault syndrome
• c.1334-11T>C Single submitter
• c.1334-12_1334-9del Single submitter d-bifunctional protein deficiency
• c.1334-131C>T Single submitter
• c.1334-13A>G Single submitter Perrault syndrome
• c.1334-15T>C Single submitter d-bifunctional protein deficiency
• c.1334-18C>T Single submitter d-bifunctional protein deficiency
• c.1334-19T>C Single submitter d-bifunctional protein deficiency
• c.1334-4T>A Single submitter d-bifunctional protein deficiency
• c.1437+18A>C Single submitter d-bifunctional protein deficiency
• c.1438-12T>C Single submitter d-bifunctional protein deficiency
• c.1438-13G>A Single submitter d-bifunctional protein deficiency
• c.1438-14T>C Single submitter d-bifunctional protein deficiency
• c.1438-18G>A Single submitter Perrault syndrome
• c.1438-20A>G Single submitter Perrault syndrome
• c.1438-220A>T Single submitter
• c.1438-308T>C Single submitter
• c.1438-6T>C Single submitter Perrault syndrome
• c.1438-9T>G Single submitter Perrault syndrome
• c.1503+11del Single submitter d-bifunctional protein deficiency
• c.1503+17G>A Single submitter d-bifunctional protein deficiency
• c.1503+18A>C Single submitter d-bifunctional protein deficiency
• c.1503+236C>A Single submitter
• c.1503+7T>C Single submitter Perrault syndrome
• c.1503+8T>A Single submitter Perrault syndrome
• c.1503+9G>A Single submitter Perrault syndrome
• c.1504-11T>C Single submitter d-bifunctional protein deficiency
• c.1504-12C>T Single submitter d-bifunctional protein deficiency
• c.1504-15A>G Single submitter d-bifunctional protein deficiency
• c.1504-17T>G Single submitter d-bifunctional protein deficiency
• c.1504-20T>C Single submitter d-bifunctional protein deficiency
• c.1504-5C>G Single submitter d-bifunctional protein deficiency
• c.1504-5C>T Single submitter d-bifunctional protein deficiency
• c.1504-6C>T Single submitter d-bifunctional protein deficiency
• c.1504-7T>G Single submitter Perrault syndrome
• c.1573+10C>G Single submitter d-bifunctional protein deficiency
• c.1573+15A>G Single submitter Perrault syndrome
• c.1573+15A>T Single submitter d-bifunctional protein deficiency
• c.1573+17A>G Single submitter d-bifunctional protein deficiency
• c.1573+240C>A Single submitter
• c.1573+8G>A Single submitter d-bifunctional protein deficiency
• c.1574-10C>G Single submitter Perrault syndrome
• c.1574-10C>T Single submitter d-bifunctional protein deficiency
• c.1574-12C>T Single submitter d-bifunctional protein deficiency
• c.1574-14C>G Single submitter d-bifunctional protein deficiency
• c.1574-15T>G Single submitter d-bifunctional protein deficiency
• c.1574-17G>T Single submitter Perrault syndrome
• c.1574-19G>A Single submitter d-bifunctional protein deficiency
• c.1574-19G>C Single submitter d-bifunctional protein deficiency
• c.1574-4C>G Single submitter
• c.1574-4C>T Single submitter d-bifunctional protein deficiency
• c.1574-5C>T Single submitter d-bifunctional protein deficiency
• c.1574-7_1574-6del Single submitter d-bifunctional protein deficiency
• c.1574-9T>C Single submitter d-bifunctional protein deficiency
• c.1680+10T>C Single submitter d-bifunctional protein deficiency
• c.1680+15C>G Single submitter d-bifunctional protein deficiency
• c.1680+15C>T Single submitter Perrault syndrome
• c.1680+18C>T Single submitter d-bifunctional protein deficiency
• c.1680+19G>A Single submitter d-bifunctional protein deficiency
• c.1680+272_1680+273insGTATATATATATAT Single submitter
• c.1680+7G>A Single submitter Perrault syndrome
• c.1680+7G>C Single submitter d-bifunctional protein deficiency
• c.1680+95T>A Single submitter
• c.1680+9G>A Single submitter d-bifunctional protein deficiency
• c.1680+9G>C Single submitter d-bifunctional protein deficiency
• c.1681-10T>C Single submitter d-bifunctional protein deficiency
• c.1681-15A>C Single submitter d-bifunctional protein deficiency
• c.1681-16C>G Single submitter d-bifunctional protein deficiency
• c.1681-18C>G Single submitter d-bifunctional protein deficiency
• c.1681-5T>A Single submitter Perrault syndrome
• c.1681-9T>A Single submitter d-bifunctional protein deficiency
• c.1767+12G>T Single submitter Perrault syndrome
• c.1767+14T>G Single submitter d-bifunctional protein deficiency
• c.1767+7A>C Single submitter d-bifunctional protein deficiency
• c.1767+7A>G Single submitter Perrault syndrome
• c.1768-10_1768-9delinsCT Single submitter d-bifunctional protein deficiency
• c.1768-10T>A Single submitter d-bifunctional protein deficiency
• c.1768-11C>T Single submitter d-bifunctional protein deficiency
• c.1768-12T>C Single submitter d-bifunctional protein deficiency
• c.1768-14dup Single submitter d-bifunctional protein deficiency
• c.1768-15T>C Single submitter Perrault syndrome
• c.1768-17T>A Single submitter d-bifunctional protein deficiency
• c.1768-17T>C Single submitter d-bifunctional protein deficiency
• c.1768-19T>G Single submitter d-bifunctional protein deficiency
• c.1768-5C>T Single submitter Perrault syndrome
• c.1768-6C>G Single submitter d-bifunctional protein deficiency
• c.1768-7T>A Single submitter d-bifunctional protein deficiency
• c.1768-9C>T Single submitter Perrault syndrome
• c.1854+10A>G Single submitter d-bifunctional protein deficiency
• c.1854+12A>G Single submitter Perrault syndrome
• c.1854+14A>C Single submitter d-bifunctional protein deficiency
• c.1854+15T>A Single submitter Perrault syndrome
• c.1854+18G>A Single submitter d-bifunctional protein deficiency
• c.1854+18G>C Single submitter d-bifunctional protein deficiency
• c.1854+20A>G Single submitter d-bifunctional protein deficiency
• c.1854+8A>T Single submitter Perrault syndrome
• c.1854+9T>G Single submitter d-bifunctional protein deficiency
• c.1855-13T>C Single submitter d-bifunctional protein deficiency
• c.1855-14G>A Single submitter d-bifunctional protein deficiency
• c.1855-15T>C Single submitter d-bifunctional protein deficiency
• c.1855-19_1855-16del Single submitter Perrault syndrome
• c.1855-29T>C Single submitter
• c.1855-43A>G Single submitter
• c.1855-50A>T Single submitter
• c.1855-9C>T Single submitter Perrault syndrome
• c.1993+11G>C Single submitter d-bifunctional protein deficiency
• c.1993+12C>A Single submitter d-bifunctional protein deficiency
• c.1993+12C>T Single submitter Perrault syndrome
• c.1993+13C>G Single submitter d-bifunctional protein deficiency
• c.1993+164_1993+169del Single submitter
• c.1993+16G>T Single submitter Perrault syndrome
• c.1993+17A>G Single submitter d-bifunctional protein deficiency
• c.1993+7T>C Single submitter d-bifunctional protein deficiency
• c.1993+7T>G Single submitter d-bifunctional protein deficiency
• c.1994-11A>G Single submitter d-bifunctional protein deficiency
• c.1994-13C>T Single submitter d-bifunctional protein deficiency
• c.1994-17C>G Single submitter d-bifunctional protein deficiency
• c.1994-290T>C Single submitter
• c.1994-4C>G Single submitter d-bifunctional protein deficiency
• c.1994-4C>T Single submitter d-bifunctional protein deficiency
• c.1994-5C>G Single submitter Perrault syndrome
• c.1994-9T>G Single submitter d-bifunctional protein deficiency
• c.2121+12A>G Single submitter d-bifunctional protein deficiency
• c.2121+14A>T Single submitter Perrault syndrome
• c.2121+16G>A Single submitter d-bifunctional protein deficiency
• c.2121+19C>A Single submitter d-bifunctional protein deficiency
• c.2121+20A>G Single submitter Perrault syndrome
• c.2121+20A>T Single submitter d-bifunctional protein deficiency
• c.2121+9C>G Single submitter d-bifunctional protein deficiency
• c.2121+9C>T Single submitter d-bifunctional protein deficiency
• c.2122-10C>T Single submitter Perrault syndrome
• c.2122-12C>A Single submitter d-bifunctional protein deficiency
• c.2122-12C>G Single submitter d-bifunctional protein deficiency
• c.2122-13C>G Single submitter d-bifunctional protein deficiency
• c.2122-13C>T Single submitter Perrault syndrome
• c.2122-14T>C Single submitter Perrault syndrome
• c.2122-14T>G Single submitter d-bifunctional protein deficiency
• c.2122-16C>T Single submitter d-bifunctional protein deficiency
• c.2122-17C>T Single submitter d-bifunctional protein deficiency
• c.2122-18T>C Single submitter d-bifunctional protein deficiency
• c.2122-42C>T Single submitter
• c.2122-4G>C Single submitter d-bifunctional protein deficiency
• c.2122-6T>G Single submitter d-bifunctional protein deficiency
• c.2122-7C>A Single submitter Perrault syndrome
• c.2122-84G>A Single submitter
• c.2122-9T>C Single submitter d-bifunctional protein deficiency
• c.220+10T>C Single submitter d-bifunctional protein deficiency
• c.220+14G>A Single submitter Perrault syndrome
• c.220+16G>A Single submitter d-bifunctional protein deficiency
• c.221-10T>C Single submitter d-bifunctional protein deficiency
• c.221-12C>T Single submitter Perrault syndrome
• c.221-17A>G Single submitter d-bifunctional protein deficiency
• c.221-18A>C Single submitter d-bifunctional protein deficiency
• c.221-20C>G Single submitter d-bifunctional protein deficiency
• c.221-5C>T Single submitter d-bifunctional protein deficiency
• c.221-5del Single submitter d-bifunctional protein deficiency
• c.221-6C>T Single submitter d-bifunctional protein deficiency
• c.221-9T>A Single submitter d-bifunctional protein deficiency
• c.280+10C>G Single submitter d-bifunctional protein deficiency
• c.280+20T>A Single submitter d-bifunctional protein deficiency
• c.280+20T>C Single submitter d-bifunctional protein deficiency
• c.280+7T>C Single submitter d-bifunctional protein deficiency
• c.280+9T>C Single submitter d-bifunctional protein deficiency
• c.281-11_281-10del Single submitter d-bifunctional protein deficiency
• c.281-15del Single submitter d-bifunctional protein deficiency
• c.281-19G>A Single submitter d-bifunctional protein deficiency
• c.281-19G>T Single submitter d-bifunctional protein deficiency
• c.281-5T>C Single submitter Perrault syndrome
• c.281-9A>G Single submitter Perrault syndrome
• c.302+11_302+14del Single submitter d-bifunctional protein deficiency
• c.302+17C>T Single submitter d-bifunctional protein deficiency
• c.302+19T>A Single submitter d-bifunctional protein deficiency
• c.302+7A>G Single submitter Perrault syndrome
• c.303-12T>C Single submitter d-bifunctional protein deficiency
• c.303-14del Single submitter d-bifunctional protein deficiency
• c.303-17C>T Single submitter d-bifunctional protein deficiency
• c.303-19T>A Single submitter Perrault syndrome
• c.303-20A>G Single submitter d-bifunctional protein deficiency
• c.303-3dup Single submitter d-bifunctional protein deficiency
• c.303-7T>G Single submitter d-bifunctional protein deficiency
• c.349+13del Single submitter d-bifunctional protein deficiency
• c.349+13T>C Single submitter d-bifunctional protein deficiency
• c.349+14A>G Single submitter d-bifunctional protein deficiency
• c.349+151_349+154del Single submitter
• c.349+15G>T Single submitter d-bifunctional protein deficiency
• c.349+16dup Single submitter d-bifunctional protein deficiency
• c.349+17A>G Single submitter d-bifunctional protein deficiency
• c.349+8del Single submitter
• c.349+91G>T Single submitter
• c.350-10A>G Single submitter d-bifunctional protein deficiency
• c.350-122G>A Single submitter
• c.350-13T>A Single submitter d-bifunctional protein deficiency
• c.350-14A>C Single submitter d-bifunctional protein deficiency
• c.350-15A>G Single submitter d-bifunctional protein deficiency
• c.350-16del Single submitter Perrault syndrome
• c.350-17A>C Single submitter d-bifunctional protein deficiency
• c.350-17A>G Single submitter d-bifunctional protein deficiency
• c.350-7G>A Single submitter Perrault syndrome
• c.350-94A>G Single submitter
• c.434+15G>A Single submitter d-bifunctional protein deficiency
• c.434+15G>C Single submitter d-bifunctional protein deficiency
• c.434+18T>G Single submitter d-bifunctional protein deficiency
• c.434+9G>T Single submitter d-bifunctional protein deficiency
• c.435-13A>G Single submitter d-bifunctional protein deficiency
• c.435-14G>T Single submitter d-bifunctional protein deficiency
• c.435-16T>C Single submitter d-bifunctional protein deficiency
• c.435-20G>A Single submitter d-bifunctional protein deficiency
• c.435-302A>G Single submitter
• c.435-308G>A Single submitter
• c.435-4T>A Single submitter Perrault syndrome
• c.435-8C>G Single submitter Perrault syndrome
• c.58+10C>T Single submitter d-bifunctional protein deficiency
• c.58+11_58+35del Single submitter Perrault syndrome
• c.58+111G>A Single submitter
• c.58+118G>A Single submitter
• c.58+11dup Single submitter d-bifunctional protein deficiency
• c.58+141G>A Single submitter

Uncertain significance 389

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

• c.1767+5G>A Multiple submitters d-bifunctional protein deficiency
• c.*134C>T Multiple submitters d-bifunctional protein deficiency
• p.Ala353Val Multiple submitters Perrault syndrome ⚠
• p.Ala402Thr Multiple submitters Perrault syndrome ⚠
• p.Ala430Asp Multiple submitters d-bifunctional protein deficiency ⚠
• p.Ala54Asp Multiple submitters Inborn genetic diseases ⚠
• p.Ala54Thr Multiple submitters HSD17B4-related disorder ⚠
• p.Ala54Val Multiple submitters d-bifunctional protein deficiency ⚠
• p.Ala561Ser Multiple submitters Inborn genetic diseases ⚠
• p.Arg106Cys Multiple submitters Inborn genetic diseases ⚠
• p.Arg125Trp Multiple submitters d-bifunctional protein deficiency ⚠
• p.Arg23Gln Multiple submitters Perrault syndrome ⚠
• p.Arg23Gly Multiple submitters Perrault syndrome ⚠
• p.Arg315Cys Multiple submitters d-bifunctional protein deficiency ⚠
• p.Arg473Gln Multiple submitters d-bifunctional protein deficiency ⚠
• p.Arg473Trp Multiple submitters d-bifunctional protein deficiency ⚠
• p.Arg555Gly Multiple submitters Inborn genetic diseases ⚠
• p.Arg633His Multiple submitters Inborn genetic diseases ⚠
• p.Arg634Cys Multiple submitters Inborn genetic diseases ⚠
• p.Arg713Lys Multiple submitters Perrault syndrome ⚠
• p.Arg92Ile Multiple submitters Perrault syndrome ⚠
• p.Asn261Thr Multiple submitters Perrault syndrome ⚠
• p.Asn311Ser Multiple submitters d-bifunctional protein deficiency ⚠
• p.Asn72Lys Multiple submitters Perrault syndrome ⚠
• p.Asp117Glu Multiple submitters Perrault syndrome ⚠
• p.Asp357Val Multiple submitters d-bifunctional protein deficiency ⚠
• p.Asp360Tyr Multiple submitters Perrault syndrome 1 ⚠
• p.Asp495Gly Multiple submitters Inborn genetic diseases ⚠
• p.Asp704Glu Multiple submitters Inborn genetic diseases ⚠
• p.Gln161Pro Multiple submitters d-bifunctional protein deficiency ⚠
• p.Gln587Glu Multiple submitters Perrault syndrome ⚠
• p.Gln727Arg Multiple submitters Perrault syndrome ⚠
• p.Gln727His Multiple submitters d-bifunctional protein deficiency ⚠
• p.Glu232Lys Multiple submitters ⚠
• p.Glu452Gln Multiple submitters d-bifunctional protein deficiency ⚠
• p.Glu629Gln Multiple submitters d-bifunctional protein deficiency ⚠
• p.Glu77Gly Multiple submitters d-bifunctional protein deficiency ⚠
• p.Gly421Glu Multiple submitters d-bifunctional protein deficiency ⚠
• p.Gly620Arg Multiple submitters d-bifunctional protein deficiency ⚠
• p.Gly657Asp Multiple submitters d-bifunctional protein deficiency ⚠
• p.Gly678Asp Multiple submitters Inborn genetic diseases
• p.Gly682Asp Multiple submitters d-bifunctional protein deficiency ⚠
• p.His653Arg Multiple submitters Inborn genetic diseases ⚠
• p.Ile256Val Multiple submitters d-bifunctional protein deficiency ⚠
• p.Ile394Thr Multiple submitters d-bifunctional protein deficiency ⚠
• p.Ile484Met Multiple submitters Inborn genetic diseases ⚠
• p.Ile62Val Multiple submitters Inborn genetic diseases ⚠
• p.Ile631Thr Multiple submitters Inborn genetic diseases
• p.Ile93Thr Multiple submitters d-bifunctional protein deficiency ⚠
• p.Leu225Phe Multiple submitters d-bifunctional protein deficiency ⚠
• p.Leu332Phe Multiple submitters Perrault syndrome 1 ⚠
• p.Leu405Phe Multiple submitters d-bifunctional protein deficiency ⚠
• p.Leu453Phe Multiple submitters Perrault syndrome ⚠
• p.Leu463Pro Multiple submitters Perrault syndrome ⚠
• p.Lys184Glu Multiple submitters Perrault syndrome ⚠
• p.Phe237Ser Multiple submitters Inborn genetic diseases ⚠
• p.Phe90Leu Multiple submitters d-bifunctional protein deficiency ⚠
• p.Pro215Thr Multiple submitters d-bifunctional protein deficiency ⚠
• p.Pro220Ser Multiple submitters Perrault syndrome ⚠
• p.Pro266Ser Multiple submitters Inborn genetic diseases ⚠
• p.Pro334Ala Multiple submitters Inborn genetic diseases ⚠
• p.Pro518Ser Multiple submitters d-bifunctional protein deficiency ⚠
• p.Pro607Ser Multiple submitters Perrault syndrome ⚠
• p.Ser112Thr Multiple submitters Inborn genetic diseases ⚠
• p.Ser153Leu Multiple submitters ⚠
• p.Ser385Tyr Multiple submitters d-bifunctional protein deficiency ⚠
• p.Ser437Cys Multiple submitters Inborn genetic diseases ⚠
• p.Ser554Pro Multiple submitters d-bifunctional protein deficiency ⚠
• p.Thr252Ile Multiple submitters Perrault syndrome ⚠
• p.Thr321Ala Multiple submitters Inborn genetic diseases ⚠
• p.Tyr339Cys Multiple submitters Perrault syndrome 1 ⚠
• p.Tyr602Cys Multiple submitters d-bifunctional protein deficiency ⚠
• p.Tyr733Cys Multiple submitters Perrault syndrome ⚠
• p.Val210Met Multiple submitters Inborn genetic diseases ⚠
• p.Val37Phe Multiple submitters Inborn genetic diseases ⚠
• p.Val553Met Multiple submitters d-bifunctional protein deficiency ⚠
• p.Val567Ala Multiple submitters Inborn genetic diseases ⚠
• p.Val59Ile Multiple submitters d-bifunctional protein deficiency ⚠
• c.113-2224C>A Single submitter
• c.113-2228A>G Single submitter
• c.1209+5G>A Single submitter Perrault syndrome
• c.1209+5G>T Single submitter Perrault syndrome
• c.1261+5G>C Single submitter d-bifunctional protein deficiency
• c.1854+3A>G Single submitter
• c.1854+7T>C Single submitter d-bifunctional protein deficiency
• c.220+3A>G Single submitter d-bifunctional protein deficiency
• c.280+4A>G Single submitter Perrault syndrome
• c.280+4A>T Single submitter d-bifunctional protein deficiency
• c.280+5T>C Single submitter d-bifunctional protein deficiency
• c.302+2_302+3insTGTTGT Single submitter Perrault syndrome 1
• c.302+3_302+18delinsTGTTGTGATTTTTTAGTGAATTGTGTATTTTAGTGATGTGTGTATAATTTTTTTAAAAAGTATATACTTTCCTCCTTTTACCCTATACAACATTGATTT Single submitter
• c.302+48_303-25del Single submitter d-bifunctional protein deficiency
• c.303-12T>A Single submitter
• c.434+5A>G Single submitter Perrault syndrome
• c.58+143A>G Single submitter
• c.58+182C>T Single submitter
• c.58+185G>A Single submitter
• c.58+194G>T Single submitter Inborn genetic diseases
• c.59-3T>G Single submitter Perrault syndrome
• c.714+3A>G Single submitter
• c.739+7C>G Single submitter
• c.740-2A>T Single submitter d-bifunctional protein deficiency
• c.740-3C>G Single submitter
• c.869-727G>T Single submitter isolated cerebellar hypoplasia/agenesis
• c.-130C>T Single submitter Perrault syndrome 1
• c.-75C>A Single submitter d-bifunctional protein deficiency
• c.*10T>G Single submitter
• c.*123A>G Single submitter Perrault syndrome 1
• p.Ala100Thr Single submitter Perrault syndrome ⚠
• p.Ala133Thr Single submitter ⚠
• p.Ala134Val Single submitter d-bifunctional protein deficiency ⚠
• p.Ala179Gly Single submitter ⚠
• p.Ala24Val Single submitter ⚠
• p.Ala268Val Single submitter ⚠
• p.Ala26Ser Single submitter Inborn genetic diseases ⚠
• p.Ala282Pro Single submitter d-bifunctional protein deficiency ⚠
• p.Ala325Ser Single submitter ⚠
• p.Ala325Thr Single submitter ⚠
• p.Ala327Gly Single submitter Inborn genetic diseases ⚠
• p.Ala348Thr Single submitter d-bifunctional protein deficiency ⚠
• p.Ala502Gly Single submitter d-bifunctional protein deficiency ⚠
• p.Ala541Val Single submitter ⚠
• p.Ala54Gly Single submitter d-bifunctional protein deficiency ⚠
• p.Ala55Thr Single submitter Perrault syndrome ⚠
• p.Ala561Pro Single submitter d-bifunctional protein deficiency ⚠
• p.Ala564Leu Single submitter d-bifunctional protein deficiency
• p.Ala564Pro Single submitter Inborn genetic diseases ⚠
• p.Ala716Ser Single submitter ⚠
• p.Arg110Gly Single submitter Inborn genetic diseases ⚠
• p.Arg121Gly Single submitter d-bifunctional protein deficiency ⚠
• p.Arg125Gln Single submitter ⚠
• p.Arg199Gln Single submitter d-bifunctional protein deficiency ⚠
• p.Arg248Gly Single submitter d-bifunctional protein deficiency ⚠
• p.Arg543Cys Single submitter ⚠
• p.Arg633Cys Single submitter ⚠
• p.Arg633Leu Single submitter Inborn genetic diseases ⚠
• p.Arg64Ser Single submitter d-bifunctional protein deficiency ⚠
• p.Arg65del Single submitter
• p.Arg717Gly Single submitter ⚠
• p.Asn272Asp Single submitter d-bifunctional protein deficiency ⚠
• p.Asn272Thr Single submitter Perrault syndrome ⚠
• p.Asn281Ser Single submitter d-bifunctional protein deficiency ⚠
• p.Asn457Ser Single submitter d-bifunctional protein deficiency ⚠
• p.Asn486Ile Single submitter Inborn genetic diseases ⚠
• p.Asn551Ser Single submitter Inborn genetic diseases ⚠
• p.Asp113Ala Single submitter d-bifunctional protein deficiency ⚠
• p.Asp115Val Single submitter Perrault syndrome 1 ⚠
• p.Asp117His Single submitter ⚠
• p.Asp370His Single submitter HSD17B4-related disorder ⚠
• p.Asp370Val Single submitter Perrault syndrome ⚠
• p.Asp40Tyr Single submitter d-bifunctional protein deficiency ⚠
• p.Asp431Gly Single submitter Inborn genetic diseases ⚠
• p.Asp434Gly Single submitter ⚠
• p.Asp444Val Single submitter ⚠
• p.Asp44Val Single submitter Perrault syndrome ⚠
• p.Asp476Gly Single submitter Inborn genetic diseases ⚠
• p.Asp495Val Single submitter d-bifunctional protein deficiency ⚠
• p.Asp552Val Single submitter d-bifunctional protein deficiency ⚠
• p.Asp56Gly Single submitter ⚠
• p.Asp667Glu Single submitter Inborn genetic diseases ⚠
• p.Asp692Gly Single submitter d-bifunctional protein deficiency ⚠
• p.Asp694Gly Single submitter ⚠
• p.Asp94Tyr Single submitter ⚠
• p.Cys189Ser Single submitter Perrault syndrome ⚠
• p.Cys189Tyr Single submitter Inborn genetic diseases ⚠
• p.Cys425Arg Single submitter ⚠
• p.Cys425Tyr Single submitter d-bifunctional protein deficiency
• p.Cys535_Thr536delinsPheSer Single submitter
• p.Gln129Arg Single submitter ⚠
• p.Gln161Glu Single submitter ⚠
• p.Gln286Arg Single submitter Inborn genetic diseases ⚠
• p.Gln623Arg Single submitter Inborn genetic diseases ⚠
• p.Gln724Leu Single submitter Inborn genetic diseases ⚠
• p.Glu238= Single submitter
• p.Glu238Asp Single submitter d-bifunctional protein deficiency ⚠
• p.Glu238Val Single submitter ⚠
• p.Glu280Ala Single submitter ⚠
• p.Glu31Lys Single submitter Perrault syndrome ⚠
• p.Glu366Lys Single submitter d-bifunctional protein deficiency ⚠
• p.Glu393Lys Single submitter d-bifunctional protein deficiency ⚠
• p.Glu408Lys Single submitter ⚠
• p.Glu576Asp Single submitter Inborn genetic diseases ⚠
• p.Glu630Asp Single submitter Inborn genetic diseases ⚠
• p.Gly101Arg Single submitter ⚠
• p.Gly126Asp Single submitter isolated cerebellar hypoplasia/agenesis ⚠
• p.Gly126Ser Single submitter Perrault syndrome ⚠
• p.Gly144Arg Single submitter Perrault syndrome 1 ⚠
• p.Gly18Val Single submitter d-bifunctional protein deficiency ⚠
• p.Gly234Asp Single submitter ⚠
• p.Gly235Ser Single submitter Inborn genetic diseases ⚠
• p.Gly240Arg Single submitter d-bifunctional protein deficiency ⚠
• p.Gly254Glu Single submitter Perrault syndrome ⚠
• p.Gly326Ala Single submitter ⚠
• p.Gly350Glu Single submitter ⚠
• p.Gly382Asp Single submitter d-bifunctional protein deficiency ⚠
• p.Gly407Arg Single submitter d-bifunctional protein deficiency ⚠
• p.Gly51Ala Single submitter ⚠
• p.Gly658Arg Single submitter ⚠
• p.Gly671Arg Single submitter Perrault syndrome ⚠
• p.Gly678Ser Single submitter d-bifunctional protein deficiency ⚠
• p.Gly67Glu Single submitter d-bifunctional protein deficiency ⚠
• p.Gly712Asp Single submitter d-bifunctional protein deficiency ⚠
• p.Gly91Arg Single submitter ⚠
• p.Gly91Glu Single submitter d-bifunctional protein deficiency ⚠
• p.His137Leu Single submitter Inborn genetic diseases ⚠
• p.His262Asp Single submitter Perrault syndrome ⚠
• p.His312Tyr Single submitter Perrault syndrome ⚠
• p.His456Asp Single submitter d-bifunctional protein deficiency
• p.His585Arg Single submitter Inborn genetic diseases ⚠
• p.Ile118Thr Single submitter Perrault syndrome ⚠
• p.Ile187Met Single submitter Inborn genetic diseases ⚠
• p.Ile288Val Single submitter ⚠
• p.Ile364Val Single submitter d-bifunctional protein deficiency ⚠
• p.Ile381Met Single submitter Perrault syndrome 1 ⚠
• p.Ile394Val Single submitter d-bifunctional protein deficiency ⚠
• p.Ile399Val Single submitter d-bifunctional protein deficiency ⚠
• p.Ile454Lys Single submitter Perrault syndrome ⚠
• p.Ile689Val Single submitter d-bifunctional protein deficiency ⚠
• p.Leu13Met Single submitter ⚠
• p.Leu178Val Single submitter Inborn genetic diseases ⚠
• p.Leu221Phe Single submitter d-bifunctional protein deficiency ⚠
• p.Leu253Val Single submitter Inborn genetic diseases ⚠
• p.Leu349Phe Single submitter Inborn genetic diseases ⚠
• p.Leu397Ile Single submitter Perrault syndrome ⚠
• p.Leu433Val Single submitter ⚠
• p.Leu499Arg Single submitter Perrault syndrome ⚠
• p.Leu622Phe Single submitter ⚠
• p.Leu668fs Single submitter
• p.Leu668Val Single submitter Perrault syndrome 1 ⚠
• p.Lys142Arg Single submitter d-bifunctional protein deficiency ⚠
• p.Lys270Arg Single submitter ⚠
• p.Lys356Arg Single submitter Perrault syndrome ⚠
• p.Lys359Glu Single submitter Inborn genetic diseases ⚠
• p.Lys362Ile Single submitter Inborn genetic diseases
• p.Lys422Arg Single submitter Inborn genetic diseases ⚠
• p.Lys424Arg Single submitter Perrault syndrome ⚠
• p.Lys451Arg Single submitter Perrault syndrome ⚠
• p.Lys479Arg Single submitter d-bifunctional protein deficiency ⚠
• p.Lys560Asn Single submitter Perrault syndrome ⚠
• p.Lys565Ile Single submitter Inborn genetic diseases ⚠
• p.Lys645= Single submitter d-bifunctional protein deficiency
• p.Lys645Thr Single submitter d-bifunctional protein deficiency ⚠
• p.Lys663Asn Single submitter Perrault syndrome ⚠
• p.Lys669Glu Single submitter Inborn genetic diseases
• p.Lys68Asn Single submitter ⚠
• p.Lys702Arg Single submitter Inborn genetic diseases ⚠
• p.Lys702Asn Single submitter d-bifunctional protein deficiency ⚠
• p.Lys81Asn Single submitter Perrault syndrome ⚠
• p.Lys81Glu Single submitter d-bifunctional protein deficiency ⚠
• p.Lys84Arg Single submitter Perrault syndrome ⚠
• p.Met138Thr Single submitter ⚠
• p.Met138Val Single submitter ⚠
• p.Met148Val Single submitter d-bifunctional protein deficiency ⚠
• p.Met200Ile Single submitter Inborn genetic diseases ⚠
• p.Met200Val Single submitter d-bifunctional protein deficiency
• p.Met205Ile Single submitter ⚠
• p.Met205Thr Single submitter d-bifunctional protein deficiency ⚠
• p.Met346Thr Single submitter d-bifunctional protein deficiency ⚠
• p.Met387Thr Single submitter ⚠
• p.Met577Val Single submitter Perrault syndrome 1 ⚠
• p.Met721Ile Single submitter d-bifunctional protein deficiency ⚠
• p.Phe279Ser Single submitter ⚠
• p.Phe279Val Single submitter Perrault syndrome 1 ⚠
• p.Phe324Tyr Single submitter Inborn genetic diseases ⚠
• p.Phe626Ser Single submitter Inborn genetic diseases ⚠
• p.Phe626Val Single submitter Perrault syndrome 1 ⚠
• p.Phe709Leu Single submitter Perrault syndrome ⚠
• p.Phe7Leu Single submitter Perrault syndrome 1 ⚠
• p.Phe90Ser Single submitter Inborn genetic diseases ⚠
• p.Pro215Ser Single submitter d-bifunctional protein deficiency ⚠
• p.Pro285Leu Single submitter Perrault syndrome ⚠
• p.Pro334Ser Single submitter d-bifunctional protein deficiency ⚠
• p.Pro416Gln Single submitter Inborn genetic diseases ⚠
• p.Pro418Arg Single submitter Inborn genetic diseases ⚠
• p.Pro489Ser Single submitter Inborn genetic diseases ⚠
• p.Pro566Thr Single submitter ⚠
• p.Pro569Leu Single submitter d-bifunctional protein deficiency ⚠
• p.Pro569Ser Single submitter Inborn genetic diseases ⚠
• p.Pro679Leu Single submitter Inborn genetic diseases ⚠
• p.Ser177Phe Single submitter ⚠
• p.Ser177Pro Single submitter Perrault syndrome ⚠
• p.Ser283Cys Single submitter d-bifunctional protein deficiency ⚠
• p.Ser287Asn Single submitter d-bifunctional protein deficiency ⚠
• p.Ser309Pro Single submitter Perrault syndrome ⚠
• p.Ser368Thr Single submitter ⚠
• p.Ser369Pro Single submitter ⚠
• p.Ser475Leu Single submitter d-bifunctional protein deficiency ⚠
• p.Ser498Cys Single submitter d-bifunctional protein deficiency ⚠
• p.Ser508Ile Single submitter d-bifunctional protein deficiency ⚠
• p.Ser540Tyr Single submitter d-bifunctional protein deficiency ⚠
• p.Ser609Phe Single submitter ⚠
• p.Ser672Pro Single submitter Inborn genetic diseases ⚠
• p.Ser711Arg Single submitter d-bifunctional protein deficiency ⚠
• p.Ser711Asn Single submitter Inborn genetic diseases ⚠
• p.Ser75Leu Single submitter Inborn genetic diseases ⚠
• p.Thr15Ile Single submitter d-bifunctional protein deficiency ⚠
• p.Thr191Ala Single submitter d-bifunctional protein deficiency ⚠
• p.Thr201Ser Single submitter Inborn genetic diseases ⚠
• p.Thr265Ala Single submitter Perrault syndrome ⚠
• p.Thr340= Single submitter