Sugi Variant

Sugi Variant/HLCS

HLCS — 1042 ClinVar variants

All ClinVar germline HLCS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 260 flagged for review →

55 Pathogenic · 33 Pathogenic/Likely pathogenic · 97 Likely pathogenic · 52 Conflicting · 65 Benign · 21 Benign/Likely benign · 403 Likely benign · 316 Uncertain significance

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

⚑ Evidence disagreements 260

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

Predictors agree, ClinVar conflicts 32

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

Predictors lean, ClinVar uncertain 180

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 180

Predictors split 48

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

All HLCS variants

Pathogenic 55

  • c.1960+5G>A Multiple submitters HLCS-related disorders
  • p.Arg712Ter Multiple submitters holocarboxylase synthetase deficiency
  • p.Gly408fs Multiple submitters holocarboxylase synthetase deficiency
  • p.Ile366fs Multiple submitters holocarboxylase synthetase deficiency
  • p.Val243fs Multiple submitters holocarboxylase synthetase deficiency
  • p.Arg543fs Single submitter holocarboxylase synthetase deficiency
  • p.Asn710_Arg712delinsTer Single submitter holocarboxylase synthetase deficiency
  • p.Asp355fs Single submitter holocarboxylase synthetase deficiency
  • p.Asp800fs Single submitter holocarboxylase synthetase deficiency
  • p.Gln169Ter Single submitter holocarboxylase synthetase deficiency
  • p.Gln179Ter Single submitter holocarboxylase synthetase deficiency
  • p.Gln386Ter Single submitter holocarboxylase synthetase deficiency
  • p.Gln611Ter Single submitter holocarboxylase synthetase deficiency
  • p.Gln680Ter Single submitter holocarboxylase synthetase deficiency
  • p.Gln689Ter Single submitter
  • p.Gln770Ter Single submitter holocarboxylase synthetase deficiency
  • p.Gln820fs Single submitter holocarboxylase synthetase deficiency
  • p.Glu219Ter Single submitter holocarboxylase synthetase deficiency
  • p.Glu231Ter Single submitter holocarboxylase synthetase deficiency
  • p.Glu255Ter Single submitter holocarboxylase synthetase deficiency
  • p.Glu474fs Single submitter holocarboxylase synthetase deficiency
  • p.Gly738fs Single submitter holocarboxylase synthetase deficiency
  • p.His816Tyr Single submitter
  • p.Ile514_Leu515insTer Single submitter holocarboxylase synthetase deficiency
  • p.Ile760Thr Single submitter holocarboxylase synthetase deficiency
  • p.Leu364Ter Single submitter holocarboxylase synthetase deficiency
  • p.Leu384Pro Single submitter holocarboxylase synthetase deficiency
  • p.Leu482_Pro486delinsIleValGlnThrProThrTer Single submitter holocarboxylase synthetase deficiency
  • p.Leu482fs Single submitter holocarboxylase synthetase deficiency
  • p.Leu499Ter Single submitter holocarboxylase synthetase deficiency
  • p.Leu500fs Single submitter holocarboxylase synthetase deficiency
  • p.Leu567fs Single submitter holocarboxylase synthetase deficiency
  • p.Leu600Ter Single submitter holocarboxylase synthetase deficiency
  • p.Leu677fs Single submitter holocarboxylase synthetase deficiency
  • p.Leu681fs Single submitter holocarboxylase synthetase deficiency
  • p.Leu778Ter Single submitter holocarboxylase synthetase deficiency
  • p.Lys177Ter Single submitter holocarboxylase synthetase deficiency
  • p.Lys714Ter Single submitter Inborn genetic diseases
  • p.Lys726Ter Single submitter holocarboxylase synthetase deficiency
  • p.Lys793fs Single submitter holocarboxylase synthetase deficiency
  • p.Met524fs Single submitter holocarboxylase synthetase deficiency
  • p.Met547fs Single submitter holocarboxylase synthetase deficiency
  • p.Phe687fs Single submitter holocarboxylase synthetase deficiency
  • p.Pro528fs Single submitter holocarboxylase synthetase deficiency
  • p.Pro545fs Single submitter holocarboxylase synthetase deficiency
  • p.Pro637fs Single submitter holocarboxylase synthetase deficiency
  • p.Pro777_Leu778insTer Single submitter
  • p.Ser502Ter Single submitter holocarboxylase synthetase deficiency
  • p.Trp660Ter Single submitter holocarboxylase synthetase deficiency
  • p.Tyr342Ter Single submitter holocarboxylase synthetase deficiency
  • p.Tyr534fs Single submitter holocarboxylase synthetase deficiency
  • p.Tyr767Ter Single submitter holocarboxylase synthetase deficiency
  • p.Tyr813Ter Single submitter holocarboxylase synthetase deficiency
  • p.Val491fs Single submitter holocarboxylase synthetase deficiency
  • p.Val788fs Single submitter holocarboxylase synthetase deficiency

Pathogenic/Likely pathogenic 33

  • c.2121+1G>A Multiple submitters holocarboxylase synthetase deficiency
  • c.2451-1G>A Multiple submitters holocarboxylase synthetase deficiency
  • p.Arg655Trp Multiple submitters HLCS-related disorders
  • p.Arg812Ter Multiple submitters holocarboxylase synthetase deficiency
  • p.Asp544fs Multiple submitters holocarboxylase synthetase deficiency
  • p.Asp718Asn Multiple submitters holocarboxylase synthetase deficiency
  • p.Cys361Ter Multiple submitters holocarboxylase synthetase deficiency
  • p.Cys478Ter Multiple submitters holocarboxylase synthetase deficiency
  • p.Gln222fs Multiple submitters holocarboxylase synthetase deficiency
  • p.Gln222Ter Multiple submitters holocarboxylase synthetase deficiency
  • p.Gln320Ter Multiple submitters holocarboxylase synthetase deficiency
  • p.Gln378fs Multiple submitters holocarboxylase synthetase deficiency
  • p.Gln403_Val404insTer Multiple submitters holocarboxylase synthetase deficiency
  • p.Gln526Ter Multiple submitters holocarboxylase synthetase deficiency
  • p.Glu349Ter Multiple submitters holocarboxylase synthetase deficiency
  • p.Glu513fs Multiple submitters holocarboxylase synthetase deficiency
  • p.Gly519fs Multiple submitters holocarboxylase synthetase deficiency
  • p.Gly728Ser Multiple submitters holocarboxylase synthetase deficiency
  • p.His553fs Multiple submitters holocarboxylase synthetase deficiency
  • p.Leu363Arg Multiple submitters holocarboxylase synthetase deficiency
  • p.Met590fs Multiple submitters holocarboxylase synthetase deficiency
  • p.Ser288fs Multiple submitters holocarboxylase synthetase deficiency
  • p.Ser566_Leu567insTer Multiple submitters holocarboxylase synthetase deficiency
  • p.Ser754fs Multiple submitters holocarboxylase synthetase deficiency
  • p.Thr172fs Multiple submitters holocarboxylase synthetase deficiency
  • p.Thr624fs Multiple submitters holocarboxylase synthetase deficiency
  • p.Trp549Ter Multiple submitters holocarboxylase synthetase deficiency
  • p.Trp715Ter Multiple submitters holocarboxylase synthetase deficiency
  • p.Tyr742fs Multiple submitters holocarboxylase synthetase deficiency
  • p.Val510Asp Multiple submitters holocarboxylase synthetase deficiency
  • p.Val659fs Multiple submitters holocarboxylase synthetase deficiency
  • p.Val697Met Multiple submitters holocarboxylase synthetase deficiency
  • p.Val790fs Multiple submitters holocarboxylase synthetase deficiency

Likely pathogenic 97

  • c.1620+2T>G Multiple submitters HLCS-related disorders
  • c.1621-2A>G Multiple submitters holocarboxylase synthetase deficiency
  • c.1892+1G>A Multiple submitters holocarboxylase synthetase deficiency
  • c.2114_2121+5del Multiple submitters holocarboxylase synthetase deficiency
  • c.2237-2A>G Multiple submitters holocarboxylase synthetase deficiency
  • c.2450+2T>A Multiple submitters holocarboxylase synthetase deficiency
  • c.331-1G>C Multiple submitters holocarboxylase synthetase deficiency
  • c.494-1G>A Multiple submitters holocarboxylase synthetase deficiency
  • p.Ala409fs Multiple submitters holocarboxylase synthetase deficiency
  • p.Arg648fs Multiple submitters holocarboxylase synthetase deficiency
  • p.Asp781Tyr Multiple submitters holocarboxylase synthetase deficiency
  • p.Gln843Ter Multiple submitters holocarboxylase synthetase deficiency
  • p.Gly388Ala Multiple submitters holocarboxylase synthetase deficiency
  • p.Gly388Trp Multiple submitters holocarboxylase synthetase deficiency
  • p.Leu617Ser Multiple submitters holocarboxylase synthetase deficiency
  • p.Pro190_Ser195delinsLeuAlaTer Multiple submitters holocarboxylase synthetase deficiency
  • p.Ser430fs Multiple submitters holocarboxylase synthetase deficiency
  • p.Ser734Ter Multiple submitters holocarboxylase synthetase deficiency
  • p.Tyr603Cys Multiple submitters holocarboxylase synthetase deficiency
  • p.Val480Glu Multiple submitters holocarboxylase synthetase deficiency
  • c.1437+1G>A Single submitter holocarboxylase synthetase deficiency
  • c.1438-1G>C Single submitter holocarboxylase synthetase deficiency
  • c.1621-1G>C Single submitter holocarboxylase synthetase deficiency
  • c.1621-2A>T Single submitter holocarboxylase synthetase deficiency
  • c.1681dup Single submitter holocarboxylase synthetase deficiency
  • c.1892+2T>C Single submitter holocarboxylase synthetase deficiency
  • c.1960+1G>A Single submitter holocarboxylase synthetase deficiency
  • c.1961-2A>G Single submitter holocarboxylase synthetase deficiency
  • c.2237-1G>A Single submitter holocarboxylase synthetase deficiency
  • c.2237-56_2255del Single submitter holocarboxylase synthetase deficiency
  • c.2451-2A>G Single submitter holocarboxylase synthetase deficiency
  • c.493+1G>A Single submitter holocarboxylase synthetase deficiency
  • c.493+2T>C Single submitter holocarboxylase synthetase deficiency
  • c.494-2A>G Single submitter HLCS-related disorders
  • c.494-2A>T Single submitter holocarboxylase synthetase deficiency
  • p.Ala422fs Single submitter holocarboxylase synthetase deficiency
  • p.Ala646fs Single submitter holocarboxylase synthetase deficiency
  • p.Arg655Gln Single submitter holocarboxylase synthetase deficiency
  • p.Asn310fs Single submitter holocarboxylase synthetase deficiency
  • p.Asn489fs Single submitter holocarboxylase synthetase deficiency
  • p.Asn498fs Single submitter holocarboxylase synthetase deficiency
  • p.Asn658Lys Single submitter holocarboxylase synthetase deficiency
  • p.Cys253Ter Single submitter holocarboxylase synthetase deficiency
  • p.Gln320fs Single submitter holocarboxylase synthetase deficiency
  • p.Gln378Ter Single submitter holocarboxylase synthetase deficiency
  • p.Gln424Ter Single submitter holocarboxylase synthetase deficiency
  • p.Gln439fs Single submitter holocarboxylase synthetase deficiency
  • p.Gln439Ter Single submitter holocarboxylase synthetase deficiency
  • p.Gln451Ter Single submitter holocarboxylase synthetase deficiency
  • p.Gln548Ter Single submitter holocarboxylase synthetase deficiency
  • p.Gln770fs Single submitter holocarboxylase synthetase deficiency
  • p.Glu206fs Single submitter holocarboxylase synthetase deficiency
  • p.Glu265fs Single submitter holocarboxylase synthetase deficiency
  • p.Glu296Ter Single submitter holocarboxylase synthetase deficiency
  • p.Glu349fs Single submitter holocarboxylase synthetase deficiency
  • p.Glu426Ter Single submitter holocarboxylase synthetase deficiency
  • p.Glu578delinsAspLeuPheHisProThrCysLeuLysTer Single submitter holocarboxylase synthetase deficiency
  • p.Glu591Ter Single submitter holocarboxylase synthetase deficiency
  • p.Glu620fs Single submitter holocarboxylase synthetase deficiency
  • p.Glu698fs Single submitter holocarboxylase synthetase deficiency
  • p.Gly435fs Single submitter holocarboxylase synthetase deficiency
  • p.Gly682Ter Single submitter holocarboxylase synthetase deficiency
  • p.His327fs Single submitter holocarboxylase synthetase deficiency
  • p.His453fs Single submitter holocarboxylase synthetase deficiency
  • p.Ile275fs Single submitter holocarboxylase synthetase deficiency
  • p.Ile339fs Single submitter holocarboxylase synthetase deficiency
  • p.Leu250fs Single submitter holocarboxylase synthetase deficiency
  • p.Leu259fs Single submitter holocarboxylase synthetase deficiency
  • p.Leu286fs Single submitter holocarboxylase synthetase deficiency
  • p.Leu348fs Single submitter holocarboxylase synthetase deficiency
  • p.Leu384Arg Single submitter holocarboxylase synthetase deficiency
  • p.Leu417Ter Single submitter holocarboxylase synthetase deficiency
  • p.Leu518fs Single submitter holocarboxylase synthetase deficiency
  • p.Leu550fs Single submitter holocarboxylase synthetase deficiency
  • p.Lys191fs Single submitter holocarboxylase synthetase deficiency
  • p.Lys653Ter Single submitter holocarboxylase synthetase deficiency
  • p.Phe397fs Single submitter holocarboxylase synthetase deficiency
  • p.Phe468fs Single submitter holocarboxylase synthetase deficiency
  • p.Phe634fs Single submitter holocarboxylase synthetase deficiency
  • p.Pro160fs Single submitter holocarboxylase synthetase deficiency
  • p.Pro585fs Single submitter holocarboxylase synthetase deficiency
  • p.Ser181Ter Single submitter holocarboxylase synthetase deficiency
  • p.Ser230fs Single submitter holocarboxylase synthetase deficiency
  • p.Ser537Ter Single submitter holocarboxylase synthetase deficiency
  • p.Ser594Ter Single submitter holocarboxylase synthetase deficiency
  • p.Thr609Ile Single submitter holocarboxylase synthetase deficiency
  • p.Tyr280Ter Single submitter holocarboxylase synthetase deficiency
  • p.Tyr508Ter Single submitter holocarboxylase synthetase deficiency
  • p.Tyr573Ter Single submitter holocarboxylase synthetase deficiency
  • p.Val427fs Single submitter holocarboxylase synthetase deficiency
  • p.Val443fs Single submitter holocarboxylase synthetase deficiency
  • p.Val587fs Single submitter holocarboxylase synthetase deficiency
  • p.Val694Gly Single submitter holocarboxylase synthetase deficiency
  • c.1620+1G>A No assertion criteria holocarboxylase synthetase deficiency
  • p.Arg238fs No assertion criteria holocarboxylase synthetase deficiency
  • p.Asn761fs No assertion criteria holocarboxylase synthetase deficiency
  • p.Leu286Ter No assertion criteria holocarboxylase synthetase deficiency

Conflicting classifications of pathogenicity 52

  • c.1621-12T>C Single submitter holocarboxylase synthetase deficiency
  • c.331-7170T>A Single submitter holocarboxylase synthetase deficiency
  • c.494-9A>G Single submitter holocarboxylase synthetase deficiency
  • p.Ala785Thr Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Arg444Gln Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Arg444Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg449Ser Single submitter Inborn genetic diseases ⚠
  • p.Arg604His Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Arg872Gln Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Asn717= Single submitter holocarboxylase synthetase deficiency
  • p.Asp170Asn Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Asp203= Single submitter holocarboxylase synthetase deficiency
  • p.Asp235Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp781Asn Single submitter holocarboxylase synthetase deficiency
  • p.Gln44Glu Single submitter holocarboxylase synthetase deficiency
  • p.Gln479Arg Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Gln492Lys Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Gln843= Single submitter holocarboxylase synthetase deficiency
  • p.Glu149Lys Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Glu201Gln Single submitter Inborn genetic diseases ⚠
  • p.Glu426= Single submitter holocarboxylase synthetase deficiency
  • p.Glu557Lys Single submitter Inborn genetic diseases ⚠
  • p.Gly225Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly241= Single submitter holocarboxylase synthetase deficiency
  • p.Gly306= Single submitter holocarboxylase synthetase deficiency
  • p.Gly473Glu Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Gly652Arg Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Gly840Ala Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Ile784= Single submitter holocarboxylase synthetase deficiency
  • p.Leu778Val Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Lys72Met Single submitter holocarboxylase synthetase deficiency
  • p.Met154Ile Single submitter Inborn genetic diseases
  • p.Pro190Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro192Ala Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Pro756Ser Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Pro856Leu Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Ser230Asn Single submitter Inborn genetic diseases ⚠
  • p.Ser662Asn Single submitter Inborn genetic diseases ⚠
  • p.Ser805Gly Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Thr358= Single submitter holocarboxylase synthetase deficiency
  • p.Thr358Met Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Thr757del Single submitter holocarboxylase synthetase deficiency
  • p.Tyr280= Single submitter holocarboxylase synthetase deficiency
  • p.Tyr782Cys Single submitter Inborn genetic diseases ⚠
  • p.Val289Ile Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Val365Phe Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Val431Ile Single submitter Inborn genetic diseases ⚠
  • p.Val464Leu Single submitter Inborn genetic diseases ⚠
  • p.Val615Leu Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Val659= Single submitter holocarboxylase synthetase deficiency
  • p.Val697= Single submitter holocarboxylase synthetase deficiency
  • p.Val806Ile Single submitter holocarboxylase synthetase deficiency ⚠

Benign 65

Benign/Likely benign 21

  • c.1620+7del Multiple submitters holocarboxylase synthetase deficiency
  • c.1621-13_1621-10del Multiple submitters holocarboxylase synthetase deficiency
  • c.1893-6C>T Multiple submitters holocarboxylase synthetase deficiency
  • c.2451-19C>T Multiple submitters holocarboxylase synthetase deficiency
  • c.331-7111G>A Multiple submitters holocarboxylase synthetase deficiency
  • c.331-7157C>T Multiple submitters holocarboxylase synthetase deficiency
  • c.494-25TC[4] Multiple submitters holocarboxylase synthetase deficiency
  • c.*19C>T Multiple submitters holocarboxylase synthetase deficiency
  • c.*40A>G Multiple submitters holocarboxylase synthetase deficiency
  • p.Ala334= Multiple submitters holocarboxylase synthetase deficiency
  • p.Ala539= Multiple submitters holocarboxylase synthetase deficiency
  • p.Arg300= Multiple submitters holocarboxylase synthetase deficiency
  • p.Glu189Asp Multiple submitters holocarboxylase synthetase deficiency
  • p.Glu705Lys Multiple submitters Inborn genetic diseases
  • p.Gly657Arg Multiple submitters holocarboxylase synthetase deficiency
  • p.Gly848= Multiple submitters holocarboxylase synthetase deficiency
  • p.Phe861= Multiple submitters holocarboxylase synthetase deficiency
  • p.Pro242= Multiple submitters holocarboxylase synthetase deficiency
  • p.Ser805= Multiple submitters holocarboxylase synthetase deficiency
  • p.Thr305Met Multiple submitters holocarboxylase synthetase deficiency
  • p.Val788Met Multiple submitters holocarboxylase synthetase deficiency

Likely benign 403

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

  • c.1620+53A>G Multiple submitters
  • c.196-149G>A Multiple submitters
  • c.1960+200C>T Multiple submitters
  • c.2122-107C>T Multiple submitters
  • c.2122-35G>A Multiple submitters
  • c.2236+303G>A Multiple submitters
  • c.2237-17T>G Multiple submitters holocarboxylase synthetase deficiency
  • c.2450+97G>A Multiple submitters
  • c.330+44C>G Multiple submitters
  • c.494-25TC[6] Multiple submitters holocarboxylase synthetase deficiency
  • c.-392-4558G>C Multiple submitters
  • c.-393+9462C>T Multiple submitters
  • c.*1744G>A Multiple submitters holocarboxylase synthetase deficiency
  • c.*2624G>A Multiple submitters holocarboxylase synthetase deficiency
  • c.*272C>T Multiple submitters
  • p.Ala780= Multiple submitters holocarboxylase synthetase deficiency
  • p.Asp544= Multiple submitters holocarboxylase synthetase deficiency
  • p.Asp857= Multiple submitters holocarboxylase synthetase deficiency
  • p.Glu474= Multiple submitters holocarboxylase synthetase deficiency
  • p.Gly448Ser Multiple submitters holocarboxylase synthetase deficiency
  • p.Ile311= Multiple submitters holocarboxylase synthetase deficiency
  • p.Leu417= Multiple submitters holocarboxylase synthetase deficiency
  • p.Lys389= Multiple submitters holocarboxylase synthetase deficiency
  • p.Pro190= Multiple submitters holocarboxylase synthetase deficiency
  • p.Pro545= Multiple submitters holocarboxylase synthetase deficiency
  • p.Val159= Multiple submitters holocarboxylase synthetase deficiency
  • c.1437+10G>A Single submitter holocarboxylase synthetase deficiency
  • c.1437+13G>T Single submitter holocarboxylase synthetase deficiency
  • c.1437+14C>T Single submitter holocarboxylase synthetase deficiency
  • c.1437+15A>G Single submitter holocarboxylase synthetase deficiency
  • c.1437+17G>A Single submitter
  • c.1437+20T>A Single submitter holocarboxylase synthetase deficiency
  • c.1437+331T>G Single submitter
  • c.1437+7A>G Single submitter holocarboxylase synthetase deficiency
  • c.1437+8G>A Single submitter holocarboxylase synthetase deficiency
  • c.1438-149G>A Single submitter
  • c.1438-17C>T Single submitter holocarboxylase synthetase deficiency
  • c.1438-271T>C Single submitter
  • c.1438-6C>T Single submitter holocarboxylase synthetase deficiency
  • c.1438-89T>A Single submitter
  • c.1620+15C>G Single submitter holocarboxylase synthetase deficiency
  • c.1620+17G>A Single submitter holocarboxylase synthetase deficiency
  • c.1620+7T>G Single submitter holocarboxylase synthetase deficiency
  • c.1620+8G>A Single submitter holocarboxylase synthetase deficiency
  • c.1620+9del Single submitter holocarboxylase synthetase deficiency
  • c.1620+9T>G Single submitter holocarboxylase synthetase deficiency
  • c.1621-11T>C Single submitter holocarboxylase synthetase deficiency
  • c.1621-149G>A Single submitter
  • c.1621-19T>A Single submitter holocarboxylase synthetase deficiency
  • c.1621-8T>C Single submitter holocarboxylase synthetase deficiency
  • c.1621-9A>G Single submitter holocarboxylase synthetase deficiency
  • c.1892+8G>T Single submitter holocarboxylase synthetase deficiency
  • c.1893-11C>G Single submitter holocarboxylase synthetase deficiency
  • c.1893-14C>T Single submitter holocarboxylase synthetase deficiency
  • c.1893-19C>G Single submitter holocarboxylase synthetase deficiency
  • c.1893-22_1893-14dup Single submitter holocarboxylase synthetase deficiency
  • c.1893-243C>T Single submitter
  • c.1893-279A>C Single submitter
  • c.1893-4G>T Single submitter holocarboxylase synthetase deficiency
  • c.1893-5G>C Single submitter holocarboxylase synthetase deficiency
  • c.1893-9C>G Single submitter holocarboxylase synthetase deficiency
  • c.195+15C>G Single submitter
  • c.195+18_195+19insGGGGGGC Single submitter
  • c.1960+7C>T Single submitter holocarboxylase synthetase deficiency
  • c.1960+8A>G Single submitter holocarboxylase synthetase deficiency
  • c.1960+8A>T Single submitter holocarboxylase synthetase deficiency
  • c.1960+9T>C Single submitter holocarboxylase synthetase deficiency
  • c.1961-12C>A Single submitter holocarboxylase synthetase deficiency
  • c.1961-12C>T Single submitter holocarboxylase synthetase deficiency
  • c.1961-179_1961-178del Single submitter
  • c.1961-7G>C Single submitter holocarboxylase synthetase deficiency
  • c.2121+10G>A Single submitter holocarboxylase synthetase deficiency
  • c.2121+14A>G Single submitter holocarboxylase synthetase deficiency
  • c.2121+16T>C Single submitter holocarboxylase synthetase deficiency
  • c.2121+8C>A Single submitter holocarboxylase synthetase deficiency
  • c.2121+8C>T Single submitter holocarboxylase synthetase deficiency
  • c.2121+9A>G Single submitter holocarboxylase synthetase deficiency
  • c.2122-13G>A Single submitter holocarboxylase synthetase deficiency
  • c.2122-19T>C Single submitter holocarboxylase synthetase deficiency
  • c.2122-330A>G Single submitter
  • c.2122-6C>T Single submitter holocarboxylase synthetase deficiency
  • c.2122-7C>T Single submitter holocarboxylase synthetase deficiency
  • c.2236+13A>T Single submitter holocarboxylase synthetase deficiency
  • c.2236+16C>T Single submitter holocarboxylase synthetase deficiency
  • c.2236+17T>C Single submitter holocarboxylase synthetase deficiency
  • c.2236+20C>A Single submitter holocarboxylase synthetase deficiency
  • c.2237-12G>C Single submitter holocarboxylase synthetase deficiency
  • c.2237-19A>G Single submitter holocarboxylase synthetase deficiency
  • c.2237-6G>A Single submitter holocarboxylase synthetase deficiency
  • c.2450+12C>T Single submitter holocarboxylase synthetase deficiency
  • c.2450+20C>T Single submitter holocarboxylase synthetase deficiency
  • c.2450+254dup Single submitter
  • c.2450+267_2450+268insTA Single submitter
  • c.2450+7G>C Single submitter holocarboxylase synthetase deficiency
  • c.2450+8C>T Single submitter holocarboxylase synthetase deficiency
  • c.2450+9T>C Single submitter holocarboxylase synthetase deficiency
  • c.2451-13T>C Single submitter holocarboxylase synthetase deficiency
  • c.2451-15G>C Single submitter holocarboxylase synthetase deficiency
  • c.2451-18G>A Single submitter holocarboxylase synthetase deficiency
  • c.2451-19C>A Single submitter holocarboxylase synthetase deficiency
  • c.2451-19C>G Single submitter holocarboxylase synthetase deficiency
  • c.2451-46G>A Single submitter
  • c.2451-8C>G Single submitter holocarboxylase synthetase deficiency
  • c.2451-8C>T Single submitter holocarboxylase synthetase deficiency
  • c.330+317G>A Single submitter
  • c.330+88A>G Single submitter
  • c.331-8750dup Single submitter
  • c.331-9297C>T Single submitter
  • c.331-9299_331-9298del Single submitter
  • c.493+10T>C Single submitter holocarboxylase synthetase deficiency
  • c.493+12T>C Single submitter holocarboxylase synthetase deficiency
  • c.493+15A>G Single submitter holocarboxylase synthetase deficiency
  • c.493+170G>C Single submitter
  • c.493+18A>C Single submitter holocarboxylase synthetase deficiency
  • c.493+20G>A Single submitter holocarboxylase synthetase deficiency
  • c.494-17T>A Single submitter holocarboxylase synthetase deficiency
  • c.494-25TC[3] Single submitter holocarboxylase synthetase deficiency
  • c.494-5C>T Single submitter holocarboxylase synthetase deficiency
  • c.494-7G>A Single submitter holocarboxylase synthetase deficiency
  • c.494-7G>C Single submitter holocarboxylase synthetase deficiency
  • c.494-8T>C Single submitter holocarboxylase synthetase deficiency
  • c.494-9A>T Single submitter holocarboxylase synthetase deficiency
  • c.*1324T>C Single submitter holocarboxylase synthetase deficiency
  • c.*1725A>G Single submitter holocarboxylase synthetase deficiency
  • c.*3247A>G Single submitter holocarboxylase synthetase deficiency
  • p.Ala185= Single submitter holocarboxylase synthetase deficiency
  • p.Ala227= Single submitter holocarboxylase synthetase deficiency
  • p.Ala270= Single submitter holocarboxylase synthetase deficiency
  • p.Ala272= Single submitter holocarboxylase synthetase deficiency
  • p.Ala308= Single submitter holocarboxylase synthetase deficiency
  • p.Ala322= Single submitter holocarboxylase synthetase deficiency
  • p.Ala367= Single submitter holocarboxylase synthetase deficiency
  • p.Ala409= Single submitter holocarboxylase synthetase deficiency
  • p.Ala422= Single submitter holocarboxylase synthetase deficiency
  • p.Ala475= Single submitter holocarboxylase synthetase deficiency
  • p.Ala619= Single submitter holocarboxylase synthetase deficiency
  • p.Ala646= Single submitter holocarboxylase synthetase deficiency
  • p.Arg330= Single submitter holocarboxylase synthetase deficiency
  • p.Arg369= Single submitter holocarboxylase synthetase deficiency
  • p.Arg444= Single submitter holocarboxylase synthetase deficiency
  • p.Arg471= Single submitter holocarboxylase synthetase deficiency
  • p.Arg506= Single submitter
  • p.Arg543= Single submitter holocarboxylase synthetase deficiency
  • p.Arg604= Single submitter holocarboxylase synthetase deficiency
  • p.Arg627= Single submitter holocarboxylase synthetase deficiency
  • p.Arg627Ser Single submitter Inborn genetic diseases
  • p.Arg678= Single submitter holocarboxylase synthetase deficiency
  • p.Arg712= Single submitter holocarboxylase synthetase deficiency
  • p.Arg779= Single submitter holocarboxylase synthetase deficiency
  • p.Arg812= Single submitter holocarboxylase synthetase deficiency
  • p.Arg872= Single submitter holocarboxylase synthetase deficiency
  • p.Asn182= Single submitter holocarboxylase synthetase deficiency
  • p.Asn261= Single submitter holocarboxylase synthetase deficiency
  • p.Asn489= Single submitter holocarboxylase synthetase deficiency
  • p.Asn489Asp Single submitter Inborn genetic diseases
  • p.Asn489Ser Single submitter Inborn genetic diseases
  • p.Asn589= Single submitter holocarboxylase synthetase deficiency
  • p.Asn599= Single submitter holocarboxylase synthetase deficiency
  • p.Asn710= Single submitter holocarboxylase synthetase deficiency
  • p.Asn750= Single submitter holocarboxylase synthetase deficiency
  • p.Asn753= Single submitter holocarboxylase synthetase deficiency
  • p.Asn761= Single submitter holocarboxylase synthetase deficiency
  • p.Asn804= Single submitter holocarboxylase synthetase deficiency
  • p.Asn859= Single submitter holocarboxylase synthetase deficiency
  • p.Asp138= Single submitter
  • p.Asp211= Single submitter holocarboxylase synthetase deficiency
  • p.Asp212= Single submitter holocarboxylase synthetase deficiency
  • p.Asp235Glu Single submitter Inborn genetic diseases
  • p.Asp237= Single submitter holocarboxylase synthetase deficiency
  • p.Asp237Asn Single submitter holocarboxylase synthetase deficiency
  • p.Asp291= Single submitter holocarboxylase synthetase deficiency
  • p.Asp355= Single submitter holocarboxylase synthetase deficiency
  • p.Asp359= Single submitter holocarboxylase synthetase deficiency
  • p.Asp458= Single submitter holocarboxylase synthetase deficiency
  • p.Asp555= Single submitter holocarboxylase synthetase deficiency
  • p.Asp723= Single submitter holocarboxylase synthetase deficiency
  • p.Asp837= Single submitter holocarboxylase synthetase deficiency
  • p.Asp838Asn Single submitter holocarboxylase synthetase deficiency
  • p.Cys253= Single submitter holocarboxylase synthetase deficiency
  • p.Cys361= Single submitter holocarboxylase synthetase deficiency
  • p.Cys436= Single submitter holocarboxylase synthetase deficiency
  • p.Gln169= Single submitter holocarboxylase synthetase deficiency
  • p.Gln179= Single submitter holocarboxylase synthetase deficiency
  • p.Gln202= Single submitter holocarboxylase synthetase deficiency
  • p.Gln378= Single submitter holocarboxylase synthetase deficiency
  • p.Gln548= Single submitter holocarboxylase synthetase deficiency
  • p.Gln611= Single submitter holocarboxylase synthetase deficiency
  • p.Gln649= Single submitter holocarboxylase synthetase deficiency
  • p.Gln680= Single submitter holocarboxylase synthetase deficiency
  • p.Gln683= Single submitter holocarboxylase synthetase deficiency
  • p.Gln689= Single submitter holocarboxylase synthetase deficiency
  • p.Gln799= Single submitter holocarboxylase synthetase deficiency
  • p.Gln846= Single submitter
  • p.Glu189= Single submitter holocarboxylase synthetase deficiency
  • p.Glu193= Single submitter holocarboxylase synthetase deficiency
  • p.Glu244= Single submitter holocarboxylase synthetase deficiency
  • p.Glu255= Single submitter holocarboxylase synthetase deficiency
  • p.Glu287= Single submitter holocarboxylase synthetase deficiency
  • p.Glu321= Single submitter holocarboxylase synthetase deficiency
  • p.Glu328= Single submitter holocarboxylase synthetase deficiency
  • p.Glu370= Single submitter holocarboxylase synthetase deficiency
  • p.Glu374= Single submitter holocarboxylase synthetase deficiency
  • p.Glu457= Single submitter holocarboxylase synthetase deficiency
  • p.Glu591= Single submitter holocarboxylase synthetase deficiency
  • p.Glu766= Single submitter holocarboxylase synthetase deficiency
  • p.Gly157= Single submitter holocarboxylase synthetase deficiency
  • p.Gly217= Single submitter holocarboxylase synthetase deficiency
  • p.Gly229= Single submitter holocarboxylase synthetase deficiency
  • p.Gly234= Single submitter holocarboxylase synthetase deficiency
  • p.Gly324= Single submitter
  • p.Gly387= Single submitter holocarboxylase synthetase deficiency
  • p.Gly388= Single submitter holocarboxylase synthetase deficiency
  • p.Gly441= Single submitter holocarboxylase synthetase deficiency
  • p.Gly452= Single submitter holocarboxylase synthetase deficiency
  • p.Gly473= Single submitter holocarboxylase synthetase deficiency
  • p.Gly55= Single submitter
  • p.Gly563= Single submitter holocarboxylase synthetase deficiency
  • p.Gly641= Single submitter holocarboxylase synthetase deficiency
  • p.Gly652= Single submitter holocarboxylase synthetase deficiency
  • p.Gly654= Single submitter holocarboxylase synthetase deficiency
  • p.Gly682= Single submitter holocarboxylase synthetase deficiency
  • p.Gly728= Single submitter holocarboxylase synthetase deficiency
  • p.Gly802= Single submitter holocarboxylase synthetase deficiency
  • p.Gly835= Single submitter holocarboxylase synthetase deficiency
  • p.Gly849= Single submitter holocarboxylase synthetase deficiency
  • p.His207= Single submitter holocarboxylase synthetase deficiency
  • p.His247= Single submitter holocarboxylase synthetase deficiency
  • p.His254= Single submitter holocarboxylase synthetase deficiency
  • p.His327= Single submitter holocarboxylase synthetase deficiency
  • p.His453= Single submitter holocarboxylase synthetase deficiency
  • p.His465= Single submitter holocarboxylase synthetase deficiency
  • p.His553= Single submitter holocarboxylase synthetase deficiency
  • p.His771= Single submitter holocarboxylase synthetase deficiency
  • p.His822= Single submitter holocarboxylase synthetase deficiency
  • p.His822Arg Single submitter holocarboxylase synthetase deficiency
  • p.His855= Single submitter holocarboxylase synthetase deficiency
  • p.Ile264= Single submitter holocarboxylase synthetase deficiency
  • p.Ile339= Single submitter holocarboxylase synthetase deficiency
  • p.Ile343= Single submitter holocarboxylase synthetase deficiency
  • p.Ile602= Single submitter holocarboxylase synthetase deficiency
  • p.Ile645= Single submitter holocarboxylase synthetase deficiency
  • p.Ile685= Single submitter holocarboxylase synthetase deficiency
  • p.Ile727= Single submitter holocarboxylase synthetase deficiency
  • p.Ile795= Single submitter holocarboxylase synthetase deficiency
  • p.Ile833= Single submitter holocarboxylase synthetase deficiency
  • p.Leu152= Single submitter holocarboxylase synthetase deficiency
  • p.Leu168= Single submitter holocarboxylase synthetase deficiency
  • p.Leu173= Single submitter holocarboxylase synthetase deficiency
  • p.Leu248= Single submitter holocarboxylase synthetase deficiency
  • p.Leu278= Single submitter holocarboxylase synthetase deficiency
  • p.Leu313= Single submitter holocarboxylase synthetase deficiency
  • p.Leu323= Single submitter holocarboxylase synthetase deficiency
  • p.Leu333= Single submitter holocarboxylase synthetase deficiency
  • p.Leu344= Single submitter holocarboxylase synthetase deficiency
  • p.Leu348= Single submitter holocarboxylase synthetase deficiency
  • p.Leu353= Single submitter holocarboxylase synthetase deficiency
  • p.Leu362= Single submitter holocarboxylase synthetase deficiency
  • p.Leu363= Single submitter holocarboxylase synthetase deficiency
  • p.Leu376= Single submitter holocarboxylase synthetase deficiency
  • p.Leu393= Single submitter holocarboxylase synthetase deficiency
  • p.Leu410= Single submitter holocarboxylase synthetase deficiency
  • p.Leu429= Single submitter holocarboxylase synthetase deficiency
  • p.Leu482= Single submitter holocarboxylase synthetase deficiency
  • p.Leu484= Single submitter holocarboxylase synthetase deficiency
  • p.Leu500= Single submitter holocarboxylase synthetase deficiency
  • p.Leu536= Single submitter holocarboxylase synthetase deficiency
  • p.Leu565= Single submitter holocarboxylase synthetase deficiency
  • p.Leu600= Single submitter holocarboxylase synthetase deficiency
  • p.Leu607= Single submitter holocarboxylase synthetase deficiency
  • p.Leu612= Single submitter holocarboxylase synthetase deficiency
  • p.Leu617= Single submitter holocarboxylase synthetase deficiency
  • p.Leu628= Single submitter holocarboxylase synthetase deficiency
  • p.Leu629= Single submitter holocarboxylase synthetase deficiency
  • p.Leu632= Single submitter holocarboxylase synthetase deficiency
  • p.Leu661= Single submitter holocarboxylase synthetase deficiency
  • p.Leu677= Single submitter holocarboxylase synthetase deficiency
  • p.Leu681= Single submitter holocarboxylase synthetase deficiency
  • p.Leu691= Single submitter holocarboxylase synthetase deficiency
  • p.Leu731= Single submitter holocarboxylase synthetase deficiency
  • p.Leu736= Single submitter holocarboxylase synthetase deficiency
  • p.Leu763= Single submitter holocarboxylase synthetase deficiency
  • p.Leu778= Single submitter holocarboxylase synthetase deficiency
  • p.Leu783= Single submitter holocarboxylase synthetase deficiency
  • p.Leu791= Single submitter holocarboxylase synthetase deficiency
  • p.Leu807= Single submitter holocarboxylase synthetase deficiency
  • p.Leu823= Single submitter holocarboxylase synthetase deficiency
  • p.Leu842= Single submitter holocarboxylase synthetase deficiency
  • p.Leu867= Single submitter holocarboxylase synthetase deficiency
  • p.Lys177= Single submitter holocarboxylase synthetase deficiency
  • p.Lys199= Single submitter holocarboxylase synthetase deficiency
  • p.Lys268= Single submitter holocarboxylase synthetase deficiency
  • p.Lys379= Single submitter holocarboxylase synthetase deficiency
  • p.Lys428= Single submitter holocarboxylase synthetase deficiency
  • p.Lys561= Single submitter holocarboxylase synthetase deficiency
  • p.Lys610= Single submitter holocarboxylase synthetase deficiency
  • p.Lys776= Single submitter holocarboxylase synthetase deficiency
  • p.Lys796= Single submitter holocarboxylase synthetase deficiency
  • p.Lys801= Single submitter holocarboxylase synthetase deficiency
  • p.Phe326= Single submitter holocarboxylase synthetase deficiency
  • p.Phe380= Single submitter holocarboxylase synthetase deficiency

Uncertain significance 316

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

  • c.2450+4A>G Multiple submitters holocarboxylase synthetase deficiency
  • p.Ala619Gly Multiple submitters holocarboxylase synthetase deficiency ⚠
  • p.Arg330Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg627Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg648Gln Multiple submitters holocarboxylase synthetase deficiency ⚠
  • p.Arg712Gln Multiple submitters holocarboxylase synthetase deficiency ⚠
  • p.Asn303Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Asp281Asn Multiple submitters holocarboxylase synthetase deficiency ⚠
  • p.Asp318Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Asp862Ala Multiple submitters holocarboxylase synthetase deficiency ⚠
  • p.Asp862Asn Multiple submitters holocarboxylase synthetase deficiency ⚠
  • p.Gln161Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Gln386His Multiple submitters Inborn genetic diseases ⚠
  • p.Gln98His Multiple submitters holocarboxylase synthetase deficiency
  • p.Glu739Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu850Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Gly472Trp Multiple submitters holocarboxylase synthetase deficiency ⚠
  • p.Gly657Ala Multiple submitters holocarboxylase synthetase deficiency ⚠
  • p.Gly657Glu Multiple submitters ⚠
  • p.Leu196Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Leu384Ile Multiple submitters holocarboxylase synthetase deficiency ⚠
  • p.Leu432Ser Multiple submitters holocarboxylase synthetase deficiency ⚠
  • p.Leu783Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu867fs Multiple submitters holocarboxylase synthetase deficiency
  • p.Leu869Phe Multiple submitters holocarboxylase synthetase deficiency ⚠
  • p.Lys177Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Lys307Glu Multiple submitters holocarboxylase synthetase deficiency ⚠
  • p.Phe749Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Pro194Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro309Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro494Ser Multiple submitters holocarboxylase synthetase deficiency ⚠
  • p.Pro581Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro637Leu Multiple submitters holocarboxylase synthetase deficiency ⚠
  • p.Pro803Ser Multiple submitters holocarboxylase synthetase deficiency ⚠
  • p.Ser679Tyr Multiple submitters holocarboxylase synthetase deficiency ⚠
  • p.Ser832Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Thr517Ile Multiple submitters holocarboxylase synthetase deficiency ⚠
  • p.Tyr314Cys Multiple submitters holocarboxylase synthetase deficiency ⚠
  • p.Tyr438His Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr811Cys Multiple submitters holocarboxylase synthetase deficiency ⚠
  • p.Val574Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Val694Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val815Ile Multiple submitters holocarboxylase synthetase deficiency ⚠
  • p.Val834Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val851Ile Multiple submitters holocarboxylase synthetase deficiency ⚠
  • c.2450+1_2450+2del Single submitter holocarboxylase synthetase deficiency
  • c.331-7076C>T Single submitter holocarboxylase synthetase deficiency
  • c.493+9C>A Single submitter holocarboxylase synthetase deficiency
  • c.494-8T>A Single submitter holocarboxylase synthetase deficiency
  • c.-393+2558C>T Single submitter holocarboxylase synthetase deficiency
  • c.-393+7C>T Single submitter holocarboxylase synthetase deficiency
  • c.*1071G>A Single submitter holocarboxylase synthetase deficiency
  • c.*1084C>T Single submitter holocarboxylase synthetase deficiency
  • c.*1085G>A Single submitter holocarboxylase synthetase deficiency
  • c.*1089G>A Single submitter holocarboxylase synthetase deficiency
  • c.*1094T>C Single submitter holocarboxylase synthetase deficiency
  • c.*1097G>A Single submitter holocarboxylase synthetase deficiency
  • c.*1273T>A Single submitter holocarboxylase synthetase deficiency
  • c.*14C>T Single submitter holocarboxylase synthetase deficiency
  • c.*1581T>C Single submitter holocarboxylase synthetase deficiency
  • c.*1594A>G Single submitter holocarboxylase synthetase deficiency
  • c.*168G>T Single submitter holocarboxylase synthetase deficiency
  • c.*1756C>T Single submitter holocarboxylase synthetase deficiency
  • c.*1766G>A Single submitter holocarboxylase synthetase deficiency
  • c.*1827C>A Single submitter holocarboxylase synthetase deficiency
  • c.*1852G>T Single submitter holocarboxylase synthetase deficiency
  • c.*1856T>C Single submitter holocarboxylase synthetase deficiency
  • c.*1953A>G Single submitter holocarboxylase synthetase deficiency
  • c.*1997G>A Single submitter holocarboxylase synthetase deficiency
  • c.*2023G>A Single submitter holocarboxylase synthetase deficiency
  • c.*2069T>C Single submitter holocarboxylase synthetase deficiency
  • c.*2163A>G Single submitter holocarboxylase synthetase deficiency
  • c.*2243C>T Single submitter holocarboxylase synthetase deficiency
  • c.*2267G>T Single submitter holocarboxylase synthetase deficiency
  • c.*2416C>T Single submitter holocarboxylase synthetase deficiency
  • c.*2434G>T Single submitter holocarboxylase synthetase deficiency
  • c.*2444C>T Single submitter holocarboxylase synthetase deficiency
  • c.*2541C>T Single submitter holocarboxylase synthetase deficiency
  • c.*2545C>A Single submitter holocarboxylase synthetase deficiency
  • c.*2555T>C Single submitter holocarboxylase synthetase deficiency
  • c.*2647T>A Single submitter holocarboxylase synthetase deficiency
  • c.*2700C>T Single submitter holocarboxylase synthetase deficiency
  • c.*2771C>T Single submitter holocarboxylase synthetase deficiency
  • c.*2814C>T Single submitter holocarboxylase synthetase deficiency
  • c.*2847G>A Single submitter holocarboxylase synthetase deficiency
  • c.*2921A>G Single submitter holocarboxylase synthetase deficiency
  • c.*2945C>T Single submitter holocarboxylase synthetase deficiency
  • c.*3043A>G Single submitter holocarboxylase synthetase deficiency
  • c.*3050A>G Single submitter holocarboxylase synthetase deficiency
  • c.*305T>C Single submitter holocarboxylase synthetase deficiency
  • c.*3156A>G Single submitter holocarboxylase synthetase deficiency
  • c.*3161G>T Single submitter holocarboxylase synthetase deficiency
  • c.*3162T>A Single submitter holocarboxylase synthetase deficiency
  • c.*3162T>C Single submitter holocarboxylase synthetase deficiency
  • c.*3175A>G Single submitter holocarboxylase synthetase deficiency
  • c.*3209C>T Single submitter holocarboxylase synthetase deficiency
  • c.*3226dup Single submitter
  • c.*3253C>T Single submitter holocarboxylase synthetase deficiency
  • c.*334A>G Single submitter holocarboxylase synthetase deficiency
  • c.*430T>C Single submitter holocarboxylase synthetase deficiency
  • c.*448G>C Single submitter holocarboxylase synthetase deficiency
  • c.*490C>T Single submitter holocarboxylase synthetase deficiency
  • c.*590A>G Single submitter holocarboxylase synthetase deficiency
  • c.*779A>T Single submitter holocarboxylase synthetase deficiency
  • c.*985C>A Single submitter holocarboxylase synthetase deficiency
  • p.Ala233Pro Single submitter Inborn genetic diseases ⚠
  • p.Ala270Val Single submitter holocarboxylase synthetase deficiency
  • p.Ala422Thr Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Ala475Thr Single submitter ⚠
  • p.Ala538Thr Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Ala592Thr Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Ala592Val Single submitter Inborn genetic diseases ⚠
  • p.Ala646Thr Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Ala646Val Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Ala780Val Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Ala826Ser Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Ala826Thr Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Arg297Lys Single submitter Inborn genetic diseases ⚠
  • p.Arg300Lys Single submitter Inborn genetic diseases ⚠
  • p.Arg325Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg330Pro Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Arg369Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg449Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg507Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg507Ser Single submitter ⚠
  • p.Arg512Lys Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Arg512Thr Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Arg604Cys Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Arg627His Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Arg648Trp Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Arg701Ser Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Arg786Thr Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Arg872Trp Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Arg873Gln Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Arg873Trp Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Asn303Lys Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Asn310Asp Single submitter Inborn genetic diseases ⚠
  • p.Asn599Tyr Single submitter Inborn genetic diseases ⚠
  • p.Asn658Ile Single submitter ⚠
  • p.Asn658Ser Single submitter ⚠
  • p.Asn710Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn717Lys Single submitter ⚠
  • p.Asn761Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn768Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn804Lys Single submitter Inborn genetic diseases ⚠
  • p.Asp150Gly Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Asp155Asn Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Asp211Glu Single submitter Inborn genetic diseases ⚠
  • p.Asp335Asn Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Asp355Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp375His Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Asp544Val Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Asp69Gly Single submitter holocarboxylase synthetase deficiency
  • p.Asp781Glu Single submitter ⚠
  • p.Asp857Gly Single submitter Inborn genetic diseases ⚠
  • p.Cys336Arg Single submitter ⚠
  • p.Cys361Arg Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Cys666Tyr Single submitter Inborn genetic diseases ⚠
  • p.Gln378Glu Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Gln689His Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Gln820His Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Gln843Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln846Glu Single submitter Inborn genetic diseases ⚠
  • p.Glu218Lys Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Glu258Asp Single submitter Inborn genetic diseases
  • p.Glu296Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu374Asp Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Glu426Lys Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Glu457Lys Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Glu483Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu495Lys Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Glu620Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu651Lys Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Gly241Asp Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Gly316Cys Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Gly324Ser Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Gly441Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly448Arg Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Gly472Arg Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Gly472Glu Single submitter Inborn genetic diseases ⚠
  • p.Gly641Val Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Gly656Glu Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Gly840Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly849Ser Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Gly858Ser Single submitter holocarboxylase synthetase deficiency
  • p.His153Arg Single submitter holocarboxylase synthetase deficiency ⚠
  • p.His167Arg Single submitter holocarboxylase synthetase deficiency ⚠
  • p.His411Gln Single submitter holocarboxylase synthetase deficiency ⚠
  • p.His553Arg Single submitter holocarboxylase synthetase deficiency ⚠
  • p.His771Gln Single submitter holocarboxylase synthetase deficiency ⚠
  • p.His822Tyr Single submitter Inborn genetic diseases ⚠
  • p.Ile163Met Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Ile264Val Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Ile490Thr Single submitter Inborn genetic diseases ⚠
  • p.Ile703Val Single submitter Inborn genetic diseases ⚠
  • p.Ile743Val Single submitter Inborn genetic diseases ⚠
  • p.Ile764Asn Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Ile784Leu Single submitter Inborn genetic diseases ⚠
  • p.Ile795Asn Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Ile795Val Single submitter ⚠
  • p.Ile82Met Single submitter holocarboxylase synthetase deficiency
  • p.Leu168Phe Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Leu168Trp Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Leu278Phe Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Leu304Phe Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Leu344Phe Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Leu353Pro Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Leu384Phe Single submitter ⚠
  • p.Leu384Val Single submitter ⚠
  • p.Leu533Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu612Val Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Leu672Pro Single submitter Inborn genetic diseases
  • p.Leu744Phe Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Leu763Phe Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Leu791Val Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Lys162Thr Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Lys871Thr Single submitter Inborn genetic diseases ⚠
  • p.Met148Val Single submitter holocarboxylase synthetase deficiency
  • p.Met154Val Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Met633Thr Single submitter Inborn genetic diseases
  • p.Met640Ile Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Met640Val Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Met692Ile Single submitter holocarboxylase synthetase deficiency
  • p.Met725Thr Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Met737Thr Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Phe749Ser Single submitter Inborn genetic diseases ⚠
  • p.Phe861Val Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Pro200Leu Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Pro442Ala Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Pro637Ser Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Pro686Arg Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Pro686Leu Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Pro756Arg Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Pro777Leu Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Pro808Thr Single submitter Inborn genetic diseases ⚠
  • p.Pro829Thr Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Pro856= Single submitter holocarboxylase synthetase deficiency
  • p.Pro856Arg Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Ser165= Single submitter holocarboxylase synthetase deficiency
  • p.Ser165Leu Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Ser283Arg Single submitter ⚠
  • p.Ser285Asn Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Ser285Gly Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Ser562Tyr Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Ser566Cys Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Ser594Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser832Pro Single submitter
  • p.Thr368Pro Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Thr398Ala Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Thr398Asn Single submitter Inborn genetic diseases ⚠
  • p.Thr413Pro Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Thr625Met Single submitter ⚠
  • p.Thr735Ala Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Thr735Lys Single submitter Inborn genetic diseases ⚠
  • p.Thr752Ala Single submitter Inborn genetic diseases ⚠
  • p.Thr789Ala Single submitter Inborn genetic diseases ⚠
  • p.Tyr246Phe Single submitter Inborn genetic diseases ⚠
  • p.Tyr383Cys Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Tyr810Cys Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Val164Ala Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Val166Ala Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Val176Leu Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Val443Gly Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Val443Ile Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Val443Phe Single submitter Inborn genetic diseases ⚠
  • p.Val476Leu Single submitter Inborn genetic diseases ⚠
  • p.Val480Leu Single submitter holocarboxylase synthetase deficiency
  • p.Val574Met Single submitter Inborn genetic diseases ⚠
  • p.Val587Met Single submitter Inborn genetic diseases ⚠
  • p.Val694Leu Single submitter familial isolated deficiency of vitamin E ⚠
  • p.Val696Ala Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Val751Met Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Val787Ala Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Val790Met Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Val815Leu Single submitter Inborn genetic diseases ⚠
  • p.Val834Ala Single submitter holocarboxylase synthetase deficiency ⚠
  • p.Val834dup Single submitter holocarboxylase synthetase deficiency
  • c.1892+5G>C No assertion criteria holocarboxylase synthetase deficiency
  • c.1893-4G>A No assertion criteria holocarboxylase synthetase deficiency
  • p.Arg678Lys No assertion criteria holocarboxylase synthetase deficiency ⚠
  • p.Asn261Ser No assertion criteria holocarboxylase synthetase deficiency ⚠
  • p.Cys256Phe No assertion criteria holocarboxylase synthetase deficiency ⚠
  • p.Glu175= No assertion criteria holocarboxylase synthetase deficiency
  • p.Glu766Gln No assertion criteria holocarboxylase synthetase deficiency ⚠
  • p.Gly241Ser No assertion criteria holocarboxylase synthetase deficiency ⚠
  • p.His465Arg No assertion criteria holocarboxylase synthetase deficiency ⚠
  • p.His597Tyr No assertion criteria holocarboxylase synthetase deficiency ⚠
  • p.His771Asp No assertion criteria holocarboxylase synthetase deficiency ⚠
  • p.Ile795Thr No assertion criteria holocarboxylase synthetase deficiency ⚠
  • p.Leu286Met No assertion criteria holocarboxylase synthetase deficiency ⚠
  • p.Leu312Phe No assertion criteria holocarboxylase synthetase deficiency ⚠
  • p.Leu445His No assertion criteria holocarboxylase synthetase deficiency ⚠
  • p.Leu520Phe No assertion criteria holocarboxylase synthetase deficiency ⚠
  • p.Leu794= No assertion criteria holocarboxylase synthetase deficiency
  • p.Lys772Gln No assertion criteria holocarboxylase synthetase deficiency ⚠
  • p.Lys871fs No assertion criteria holocarboxylase synthetase deficiency
  • p.Met148Leu No assertion criteria holocarboxylase synthetase deficiency
  • p.Met626Thr No assertion criteria holocarboxylase synthetase deficiency ⚠
  • p.Met863fs No assertion criteria holocarboxylase synthetase deficiency
  • p.Pro213Ser No assertion criteria holocarboxylase synthetase deficiency ⚠