GPHN — 830 ClinVar variants

All ClinVar germline GPHN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 277 flagged for review →

23 Pathogenic · 2 Pathogenic/Likely pathogenic · 16 Likely pathogenic · 9 Conflicting · 32 Benign · 14 Benign/Likely benign · 362 Likely benign · 372 Uncertain significance

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

⚑ Evidence disagreements 277

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 4

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

GPHN p.Asn29Ser Conflicting Single submitter
Inborn genetic diseases
GPHN p.Thr446Ala Conflicting Single submitter
Inborn genetic diseases
GPHN p.Val17Ile Conflicting Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Val43Ile Conflicting Single submitter
hyperekplexia 1

Predicted LoF vs a conflicting call 3

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

GPHN c.730-1G>A Conflicting Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Ala403fs Conflicting Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Arg386Ter Conflicting Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

Predictors lean, ClinVar uncertain 197

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 197

GPHN p.Ala239Thr Uncertain significance Multiple submitters
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Ala448Ser Uncertain significance Multiple submitters
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Ala55Ser Uncertain significance Multiple submitters
Inborn genetic diseases
GPHN p.Arg28Lys Uncertain significance Multiple submitters
Inborn genetic diseases
GPHN p.Arg291Gln Uncertain significance Multiple submitters
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Arg34Cys Uncertain significance Multiple submitters
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Arg412Gln Uncertain significance Multiple submitters
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Arg443Gln Uncertain significance Multiple submitters
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Arg597His Uncertain significance Multiple submitters
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Arg686Trp Uncertain significance Multiple submitters
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Arg703His Uncertain significance Multiple submitters
Inborn genetic diseases
GPHN p.Arg708Trp Uncertain significance Multiple submitters
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Arg768Gln Uncertain significance Multiple submitters
Inborn genetic diseases
GPHN p.Gln14His Uncertain significance Multiple submitters
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Gly118Glu Uncertain significance Multiple submitters
Inborn genetic diseases
GPHN p.Gly408Val Uncertain significance Multiple submitters
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.His570Arg Uncertain significance Multiple submitters
Inborn genetic diseases
GPHN p.Ile466Val Uncertain significance Multiple submitters
Inborn genetic diseases
GPHN p.Ile66Met Uncertain significance Multiple submitters
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Lys616Asn Uncertain significance Multiple submitters
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Ser663Pro Uncertain significance Multiple submitters
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Thr198Pro Uncertain significance Multiple submitters
Inborn genetic diseases
GPHN p.Thr9Ala Uncertain significance Multiple submitters
Inborn genetic diseases
GPHN p.Val345Met Uncertain significance Multiple submitters
Inborn genetic diseases
GPHN p.Val580Ala Uncertain significance Multiple submitters
Inborn genetic diseases
GPHN p.Val580Leu Uncertain significance Multiple submitters
Inborn genetic diseases
GPHN p.Val698Ile Uncertain significance Multiple submitters
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Ala114Thr Uncertain significance Single submitter
Inborn genetic diseases
GPHN p.Ala238Ser Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Ala239Gly Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Ala308Pro Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Ala346Thr Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Ala362Asp Uncertain significance Single submitter
GPHN p.Ala389Pro Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Ala413Val Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Ala428Thr Uncertain significance Single submitter
Inborn genetic diseases
GPHN p.Ala519Glu Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Ala519Gly Uncertain significance Single submitter
Inborn genetic diseases
GPHN p.Ala643Glu Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Ala643Thr Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Arg16His Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Arg170Cys Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Arg28Gly Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Arg305Cys Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Arg305Gly Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Arg305His Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Arg350Cys Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Arg420Cys Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Arg443Leu Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Arg443Trp Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Arg485Trp Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Arg556Gln Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Arg560Cys Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Arg631Gly Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Arg631Trp Uncertain significance Single submitter
GPHN p.Arg703Cys Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Arg708Gln Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Arg737Gly Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Arg737His Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Arg768Trp Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Asn379Ile Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Asn38Asp Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Asn559Ser Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Asp12Glu Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Asp181Asn Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Asp181Glu Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Asp229Asn Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Asp382His Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Asp391Gly Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Asp415Tyr Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Asp419His Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Asp455Val Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Asp489Gly Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Asp489Val Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Asp548His Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Asp582Asn Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Asp585His Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Asp599Val Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Glu105Asp Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Glu178Asp Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Glu461Gly Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Glu474Gly Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Glu477Gln Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Glu501Asp Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Glu542Gly Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Glu611Lys Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Glu65Gln Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Glu759Lys Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Gly447Cys Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Gly453Ser Uncertain significance Single submitter
Inborn genetic diseases
GPHN p.Gly494Val Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Gly50Ser Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Gly516Ala Uncertain significance Single submitter
GPHN p.Gly553Glu Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Gly571Asp Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Gly594Val Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Gly606Asp Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Gly610Ala Uncertain significance Single submitter
Inborn genetic diseases
GPHN p.Gly649Val Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Gly681Asp Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Gly726Ser Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.His349Arg Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Ile141Leu Uncertain significance Single submitter
Inborn genetic diseases
GPHN p.Ile141Thr Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Ile166Val Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Ile173Val Uncertain significance Single submitter
Inborn genetic diseases
GPHN p.Ile235Met Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Ile240Val Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Ile282Val Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Ile332Val Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Ile377Val Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Ile37Leu Uncertain significance Single submitter
GPHN p.Ile37Met Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Ile423Thr Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Ile450Met Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Ile490Ser Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Ile490Thr Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Ile515Thr Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Ile53Thr Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Ile53Val Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Ile575Ser Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Ile58Leu Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Ile602Leu Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Ile602Ser Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Ile63Thr Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Ile7Ser Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Ile7Thr Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Ile82Val Uncertain significance Single submitter
Inborn genetic diseases
GPHN p.Leu116Gln Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Leu116Val Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Leu162Pro Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Leu289Phe Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Leu296Phe Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Leu48Phe Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Leu517Phe Uncertain significance Single submitter
Inborn genetic diseases
GPHN p.Leu564Pro Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Leu742Phe Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Leu8Phe Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Lys138Arg Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Lys138Glu Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Lys243Arg Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Lys361Arg Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Met115Val Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Met127Ile Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Met127Thr Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Met442Ile Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Met609Ile Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Met744Thr Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Phe354Leu Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Phe531Ser Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

Predictors split 73

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

GPHN p.Ala590Ser Uncertain significance Multiple submitters
Inborn genetic diseases
GPHN p.Arg170His Uncertain significance Multiple submitters
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Arg381Gln Uncertain significance Multiple submitters
Inborn genetic diseases
GPHN p.Arg686Gln Uncertain significance Multiple submitters
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Arg732His Uncertain significance Multiple submitters
Inborn genetic diseases
GPHN p.Glu330Gln Uncertain significance Multiple submitters
Inborn genetic diseases
GPHN p.Ile173Thr Uncertain significance Multiple submitters
Inborn genetic diseases
GPHN p.Thr574Ala Uncertain significance Multiple submitters
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Val43Leu Benign/Likely benign Multiple submitters
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Ala108Thr Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Ala108Val Uncertain significance Single submitter
Inborn genetic diseases
GPHN p.Ala225Ser Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Ala239Pro Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Arg284His Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Arg350His Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Arg479Gln Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Arg560His Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Arg597Cys Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Asn121Asp Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Asn529Ser Uncertain significance Single submitter
GPHN p.Asn589Asp Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Asn589Ser Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Asp12His Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Asp167Glu Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Asp41Gly Uncertain significance Single submitter
Inborn genetic diseases
GPHN p.Asp455Asn Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Asp72Gly Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Cys317Phe Uncertain significance Single submitter
GPHN p.Gln390His Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Gln434Glu Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Gln44Pro Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Glu184Lys Uncertain significance Single submitter
GPHN p.Glu754Ala Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Gly223Ser Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Gly285Val Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Gly494Ser Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Gly578Asp Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Gly578Ser Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Gly581Arg Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Gly649Ser Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Ile173Asn Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Ile332Asn Uncertain significance Single submitter
Inborn genetic diseases
GPHN p.Ile579Val Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Ile602Val Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Ile71Lys Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Leu356Pro Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Leu48Trp Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Leu517Ile Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Lys530Thr Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Lys57Arg Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Met351Ile Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Met510Val Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Met609Val Uncertain significance Single submitter
GPHN p.Met729Val Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Pro371Leu Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Pro371Ser Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Pro492Leu Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Pro685Leu Uncertain significance Single submitter
GPHN p.Pro718Ser Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Pro720Ser Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Ser328Asn Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Ser35Gly Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Ser695Thr Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Thr314Ile Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Thr343Ser Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Thr433Ala Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Thr520Ser Uncertain significance Single submitter
Inborn genetic diseases
GPHN p.Trp721Leu Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Val179Met Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Val286Gly Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Val482Gly Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Val482Leu Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPHN p.Val580Ile Uncertain significance Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

All GPHN variants

Pathogenic 23

p.Arg412Ter Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Arg556Ter Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Arg93Ter Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Gln211fs Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Gln488Arg Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Gln568Ter Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Glu302Ter Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Gly134Arg Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Gly408Asp Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Gly637fs Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.His257fs Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Ile235fs Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Lys612Ter Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Pro263fs Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Ser250fs Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Ser426fs Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Ser54fs Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Thr520_Val521insTer Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Tyr248Ter Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Tyr268Ter Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Val387fs Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.65-?_201+?del No assertion criteria sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Asp613Ala No assertion criteria sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

Pathogenic/Likely pathogenic 2

p.Leu193fs Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Tyr56Ter Multiple submitters GPHN-Related Disorders

Likely pathogenic 16

c.828+1G>A Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1006+2T>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1237+2T>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1293+2T>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1413+2T>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.144-1G>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1472+1G>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1473-1G>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1473-7_1489del Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1975+2T>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.2079+2T>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.294+1G>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.389+1G>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.589_729+150del Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.65-1G>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.828+1G>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

Conflicting classifications of pathogenicity 9

c.64+6C>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.730-1G>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Ala403fs Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Arg386Ter Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Asn29Ser Single submitter Inborn genetic diseases ⚠
p.Leu543= Single submitter Inborn genetic diseases
p.Thr446Ala Single submitter Inborn genetic diseases ⚠
p.Val17Ile Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Val43Ile Single submitter hyperekplexia 1 ⚠

Benign 32

c.1144+193T>C Multiple submitters
c.1237+86A>G Multiple submitters
c.143+90T>C Multiple submitters
c.1472+91A>G Multiple submitters
c.202-38A>G Multiple submitters
c.202-6T>C Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.2080-38G>T Multiple submitters
c.2176+109T>C Multiple submitters
c.2177-51C>A Multiple submitters
c.65-9T>C Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Gly578= Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1144+243del Single submitter
c.1237+218T>C Single submitter
c.1293+290dup Single submitter
c.143+221C>G Single submitter
c.143+232A>T Single submitter
c.1472+219T>A Single submitter
c.1473-269T>G Single submitter
c.1748+333G>A Single submitter
c.1837-220C>T Single submitter
c.1910+118del Single submitter
c.1911-206A>G Single submitter
c.1975+247_1975+268del Single submitter
c.201+258A>G Single submitter
c.2079+56A>G Single submitter
c.456+252C>G Single submitter
c.65-97del Single submitter
c.65-98_65-97del Single submitter
c.730-276del Single submitter
c.828+18del Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.829-212A>G Single submitter
c.964-300T>C Single submitter

Benign/Likely benign 14

c.1293+16del Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1414-15C>T Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1414-4A>C Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1627-20G>T Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1911-9_1911-8dup Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.2080-14A>G Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.2080-14A>T Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.2176+9T>C Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.64+8G>C Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.963+10G>A Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Asn267Ser Multiple submitters Inborn genetic diseases
p.Asp599= Multiple submitters hyperekplexia 1
p.Thr9Ser Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
p.Val43Leu Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠

Likely benign 362

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

c.1144+187A>G Multiple submitters
c.1144+9A>G Multiple submitters dementia
c.1145-16T>C Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1238-31T>C Multiple submitters
c.1293+17T>G Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1293+8T>G Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.143+123C>T Multiple submitters
c.143+13C>G Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.144-147T>C Multiple submitters
c.1627-105G>A Multiple submitters
c.1749-152G>T Multiple submitters
c.1836+19G>A Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1911-6T>C Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.202-78A>G Multiple submitters
c.2079+82C>T Multiple submitters
c.294+11A>G Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.457-13C>T Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.64+10G>C Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.963+18G>A Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.964-34A>G Multiple submitters
p.Arg556= Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Asp24= Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Gln211= Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Leu657= Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Pro400= Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Pro674= Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Ser188= Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Thr123= Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Thr199= Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1006+12A>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1006+14C>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1006+14C>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1007-15T>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1007-6G>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1144+15G>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1144+18C>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1144+19A>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1144+8T>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1145-11_1145-7del Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1145-20C>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1237+13G>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1237+20T>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1237+250G>A Single submitter
c.1237+7A>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1238-11C>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1238-14G>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1238-14G>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1238-18C>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1238-19G>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1238-7C>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1293+12A>G Single submitter
c.1293+7T>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1293+9G>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1294-10T>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1294-12C>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1294-187C>T Single submitter
c.1413+12C>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1413+13C>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1413+211G>T Single submitter
c.1414-10G>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1414-10G>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1414-12C>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1414-13_1414-12insTCGG Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1414-4A>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1414-4dup Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.143+15T>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.143+9T>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.144-10C>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.144-13C>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.144-14T>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.144-18T>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1472+14A>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1472+16A>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1472+18A>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1472+19G>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1472+8C>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1473-14G>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1473-14G>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1473-17T>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1473-7C>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1626+13A>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1626+17T>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1626+191A>G Single submitter
c.1627-13T>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1627-15T>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1627-17G>A Single submitter
c.1627-9G>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1748+11G>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1748+12A>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1748+14G>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1748+15T>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1748+17A>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1748+19T>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1748+20C>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1749-13T>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1749-15T>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1749-16_1749-12del Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1749-17T>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1749-18_1749-13del Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1749-19T>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1749-7T>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1836+12A>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1836+15G>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1836+18C>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1836+18C>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1836+29A>G Single submitter
c.1836+9G>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1837-4G>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1837-8G>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1837-9T>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1910+11C>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1910+12A>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1910+17G>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1910+8A>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1911-15_1911-14del Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1911-15C>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1911-18A>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1911-232dup Single submitter
c.1911-4C>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1911-5T>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1911-7C>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1911-9T>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1975+15T>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1975+17_1975+21dup Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1975+19T>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1976-7C>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.201+11G>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.201+12C>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.201+17T>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.202-15A>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.202-16T>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.202-18A>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.202-19T>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.202-20A>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.202-7C>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.2079+13A>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.2079+16G>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.2079+7C>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.2080-13C>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.2080-17T>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.2080-4G>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.2080-4G>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.2080-6_2080-5del Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.2176+14A>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.2176+17T>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.2176+19C>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.2176+19C>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.2177-139A>G Single submitter
c.2177-18_2177-17del Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.2177-19T>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.294+13A>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.294+16C>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.295-12C>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.295-14_295-10del Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.295-19A>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.295-8A>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.389+10T>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.389+13C>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.389+13C>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.389+16A>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.389+19T>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.390-19A>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.390-19A>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.390-20T>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.390-4T>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.390-7C>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.456+10C>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.456+10C>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.456+11T>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.456+16A>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.456+19T>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.457-109T>C Single submitter
c.457-15T>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.457-18T>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.457-5T>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.457-6A>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.457-7C>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.64+10G>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.64+12_64+17del Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.64+16G>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.64+7G>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.64+9G>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.64+9G>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.65-12A>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.65-16C>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.65-6A>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.65-97dup Single submitter
c.65-9del Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.729+12G>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.729+13A>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.729+17T>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.729+18T>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.729+20C>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.730-15T>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.730-15T>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.730-7G>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.828+14C>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.828+15T>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.828+18T>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.828+7C>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.828+8_828+9del Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.829-12C>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.829-134A>G Single submitter
c.829-20T>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.829-20T>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.963+11T>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.963+14C>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.963+17C>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.963+18_963+47del Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.963+19C>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.963+20A>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.963+7A>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.964-11T>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.964-20A>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.964-4A>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Ala165= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Ala172= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Ala2= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Ala241= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Ala256= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Ala394= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Ala413= Single submitter
p.Ala428= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Ala454= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Ala55= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Ala590= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Ala643= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Ala656= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Arg325= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Arg348= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Arg443= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Arg703= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Asn38= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Asn397= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Asn592= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Asp167= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Asp279= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Asp391= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Asp496= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Asp648= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Asp75= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Asp762= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Cys326= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Cys452= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Gln14= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Gln156= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Gln427= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Gln488= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Gln751= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Glu105= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Glu178= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Glu215= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Glu217= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Glu218= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Glu228= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Glu259= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Glu4= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Glu468= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Gly223= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Gly385= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Gly416= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Gly424= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Gly494= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Gly540= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Gly606= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Gly649= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Gly659= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.His257= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.His271= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.His349= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.His509= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.His570= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Ile141= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Ile262= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Ile493= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Ile53= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Ile575= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Leu113= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Leu162= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Leu20= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Leu289= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Leu312= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Leu388= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Leu39= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Leu42= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Leu481= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Leu504= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Leu587= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Leu588= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Leu615= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Leu619= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Leu638= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Leu676= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Leu70= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Leu700= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Leu711= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Leu733= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Leu743= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Leu745= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Leu769= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

Uncertain significance 372

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

c.1413+3A>G Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Ala239Thr Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Ala448Ser Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Ala55Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala590Ser Multiple submitters Inborn genetic diseases ⚠
p.Arg170His Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Arg276Trp Multiple submitters Inborn genetic diseases
p.Arg28Lys Multiple submitters Inborn genetic diseases ⚠
p.Arg291Gln Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Arg34Cys Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Arg381Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg412Gln Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Arg443Gln Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Arg597His Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Arg686Gln Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Arg686Trp Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Arg703His Multiple submitters Inborn genetic diseases ⚠
p.Arg708Trp Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Arg732His Multiple submitters Inborn genetic diseases ⚠
p.Arg768Gln Multiple submitters Inborn genetic diseases ⚠
p.Asn10Tyr Multiple submitters Inborn genetic diseases
p.Gln14His Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Gln260Arg Multiple submitters Inborn genetic diseases
p.Glu330Gln Multiple submitters Inborn genetic diseases ⚠
p.Gly118Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly258Ser Multiple submitters Inborn genetic diseases
p.Gly408Val Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.His570Arg Multiple submitters Inborn genetic diseases ⚠
p.Ile173Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile466Val Multiple submitters Inborn genetic diseases ⚠
p.Ile66Met Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Lys616Asn Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Ser250Ile Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Ser303Leu Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Ser663Pro Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Thr198Pro Multiple submitters Inborn genetic diseases ⚠
p.Thr574Ala Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Thr9Ala Multiple submitters Inborn genetic diseases ⚠
p.Val345Met Multiple submitters Inborn genetic diseases ⚠
p.Val580Ala Multiple submitters Inborn genetic diseases ⚠
p.Val580Leu Multiple submitters Inborn genetic diseases ⚠
p.Val698Ile Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
c.1007-3T>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1144+6A>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1237+6T>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1238-12T>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1238-3_1238-2del Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1238-3C>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1413+4C>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1413+5G>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1414-14G>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.143+5G>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1473-5T>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1748+3A>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1748+6T>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1836+4T>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1837-16_1837-11del Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1910+6A>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1911-3T>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.1976-3C>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.201+3A>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.201+4T>G Single submitter
c.202-3C>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.2176+4A>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.2177-8C>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.294+5G>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.389+6A>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.390-3C>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.64+3A>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.64+6C>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.64+6C>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.730-10T>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.730-10T>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.730-18T>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.730-19_730-18del Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.730-5A>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.730-7G>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.730-8T>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
c.-1C>T Single submitter
p.Ala108Thr Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Ala108Val Single submitter Inborn genetic diseases ⚠
p.Ala114Thr Single submitter Inborn genetic diseases ⚠
p.Ala225Ser Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Ala238Ser Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Ala239Gly Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Ala239Pro Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Ala252Ser Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Ala256Glu Single submitter Inborn genetic diseases
p.Ala256Val Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Ala308Pro Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Ala315Val Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Ala335Asp Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Ala346Thr Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Ala362Asp Single submitter ⚠
p.Ala389Pro Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Ala389Val Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Ala413Val Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Ala428Thr Single submitter Inborn genetic diseases ⚠
p.Ala519Glu Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Ala519Gly Single submitter Inborn genetic diseases ⚠
p.Ala565Gly Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Ala590Val Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Ala643Glu Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Ala643Thr Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Arg130= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Arg16His Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Arg170Cys Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Arg284His Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Arg28Gly Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Arg305Cys Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Arg305Gly Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Arg305His Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Arg311Cys Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Arg34His Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Arg350Cys Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Arg350His Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Arg420Cys Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Arg443Leu Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Arg443Trp Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Arg479Gln Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Arg485Trp Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Arg491= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Arg491Ter Single submitter hereditary breast ovarian cancer syndrome
p.Arg556Gln Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Arg560Cys Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Arg560His Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Arg597Cys Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Arg631Gly Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Arg631Trp Single submitter ⚠
p.Arg703Cys Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Arg708= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Arg708Gln Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Arg737Gly Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Arg737His Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Arg768Trp Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Asn121Asp Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Asn379Ile Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Asn38Asp Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Asn38His Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Asn529Ser Single submitter ⚠
p.Asn559Ser Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Asn589Asp Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Asn589Ser Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Asn80His Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Asp12Glu Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Asp12His Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Asp167Glu Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Asp181Asn Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Asp181Glu Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Asp229Asn Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Asp382His Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Asp391Gly Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Asp415Tyr Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Asp419His Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Asp41Gly Single submitter Inborn genetic diseases ⚠
p.Asp455Asn Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Asp455Val Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Asp489Gly Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Asp489Val Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Asp548His Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Asp582Asn Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Asp585His Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Asp599Val Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Asp72Gly Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Cys212Trp Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Cys212Tyr Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Cys317Phe Single submitter ⚠
p.Cys326Tyr Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Gln390His Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Gln434Glu Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Gln44Pro Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Gln723Ter Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Glu105Asp Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Glu178Asp Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Glu184Lys Single submitter ⚠
p.Glu217_Glu218del Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Glu218del Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Glu461Gly Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Glu474Gly Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Glu477Gln Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Glu501Asp Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Glu501Ter Single submitter
p.Glu525Asp Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Glu542Gly Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Glu611Lys Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Glu611Ter Single submitter
p.Glu65Gln Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Glu754Ala Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Glu759Lys Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Gly223Ser Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Gly258Cys Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Gly264Asp Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Gly285Val Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Gly447Cys Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Gly453Ser Single submitter Inborn genetic diseases ⚠
p.Gly494Ser Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Gly494Val Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Gly50Ser Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Gly516Ala Single submitter ⚠
p.Gly553Glu Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Gly571Asp Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Gly578Asp Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Gly578Ser Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Gly581Arg Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Gly594Val Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Gly606Asp Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Gly610Ala Single submitter Inborn genetic diseases ⚠
p.Gly649Ser Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Gly649Val Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Gly681Asp Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Gly726Ser Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Gly758= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.His245Pro Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.His271Asp Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.His271Tyr Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.His349Arg Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.His714fs Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Ile141Leu Single submitter Inborn genetic diseases ⚠
p.Ile141Thr Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Ile166Val Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Ile173Asn Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Ile173Val Single submitter Inborn genetic diseases ⚠
p.Ile235Met Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Ile240Val Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Ile262Val Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Ile266Phe Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Ile282Val Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Ile332Asn Single submitter Inborn genetic diseases ⚠
p.Ile332Val Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Ile364Met Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Ile377Asn Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Ile377Val Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Ile37Leu Single submitter ⚠
p.Ile37Met Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Ile423Thr Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Ile450Met Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Ile490= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Ile490Ser Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Ile490Thr Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Ile515Thr Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Ile53Thr Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Ile53Val Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Ile575Ser Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Ile579Val Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Ile58Leu Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Ile602Leu Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Ile602Ser Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Ile602Val Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Ile63Thr Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Ile71Lys Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Ile7Ser Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Ile7Thr Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Ile82Val Single submitter Inborn genetic diseases ⚠
p.Leu116Gln Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Leu116Val Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Leu162Pro Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Leu289Phe Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Leu296Phe Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Leu356Pro Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Leu48Phe Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Leu48Trp Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Leu517Ile Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Leu517Phe Single submitter Inborn genetic diseases ⚠
p.Leu564Pro Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Leu645Phe Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Leu742Phe Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Leu8Phe Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Lys138Arg Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Lys138Glu Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Lys175Glu Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Lys243Arg Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Lys244= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Lys321= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Lys361Arg Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Lys530Thr Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Lys57Arg Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Lys691Ter Single submitter
p.Met115Val Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Met127Ile Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Met127Thr Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Met255Val Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Met351Ile Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Met351Val Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Met442Ile Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Met510Val Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Met537Leu Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Met609Ile Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Met609Val Single submitter ⚠
p.Met729Val Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Met736Val Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Met744Thr Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Phe247Leu Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Phe247Ser Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
p.Phe354Leu Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Phe531Ser Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Phe629Cys Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Phe642Ile Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Phe671Ser Single submitter ⚠
p.Pro109Thr Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠
p.Pro189Ser Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ⚠