C1854988[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 692068	NM_001358530.2(MOCS1):c.1150+20G>A	MOCS1	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GConflicting classifications of pathogenicity
Select item 1388733	NM_001358530.2(MOCS1):c.1150+1G>T	MOCS1 (G297V +1 more)	Single nucleotide variant (missense variant +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GPathogenic/Likely pathogenic
Select item 534542	NM_001358530.2(MOCS1):c.1150G>A (p.Glu384Lys)	MOCS1 (G384S +3 more)	Single nucleotide variant (missense variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GConflicting classifications of pathogenicity
Select item 1511609	NM_001358530.2(MOCS1):c.1102+2T>C	MOCS1	Single nucleotide variant (splice donor variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GPathogenic/Likely pathogenic
Select item 1034229	NM_001358530.2(MOCS1):c.1085A>G (p.Lys362Arg)	MOCS1 (K362R +1 more)	Single nucleotide variant (missense variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A +1 more	GUncertain significance
Select item 2676642	NM_001358530.2(MOCS1):c.1027C>T (p.Arg343Ter)	MOCS1 (R256* +1 more)	Single nucleotide variant (nonsense +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely pathogenic
Select item 3239733	NM_001358530.2(MOCS1):c.1004dup (p.Val336fs)	MOCS1 (V249fs +1 more)	Duplication (frameshift variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely pathogenic
Select item 1066519	NM_001358530.2(MOCS1):c.981+1G>A	MOCS1	Single nucleotide variant (splice donor variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely pathogenic
Select item 6119	NM_001358530.2(MOCS1):c.956G>A (p.Arg319Gln)	MOCS1 (R319Q +1 more)	Single nucleotide variant (missense variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A +1 more	GLikely pathogenic
Select item 2676650	NM_001358530.2(MOCS1):c.949C>T (p.Arg317Cys)	MOCS1 (R230C +1 more)	Single nucleotide variant (missense variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely pathogenic
Select item 2676646	NM_001358530.2(MOCS1):c.871-1G>A	MOCS1	Single nucleotide variant (splice acceptor variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely pathogenic
Select item 3239734	NM_001358530.2(MOCS1):c.768G>A (p.Trp256Ter)	MOCS1 (W169* +1 more)	Single nucleotide variant (nonsense +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely pathogenic
Select item 1433315	NM_001358530.2(MOCS1):c.721del (p.Leu241fs)	MOCS1 (L154fs +1 more)	Deletion (frameshift variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GPathogenic
Select item 2676644	NM_001358530.2(MOCS1):c.664C>T (p.Arg222Ter)	MOCS1 (R135* +1 more)	Single nucleotide variant (nonsense +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GPathogenic/Likely pathogenic
Select item 1022098	NM_001358530.2(MOCS1):c.602A>G (p.Glu201Gly)	MOCS1 (E114G +1 more)	Single nucleotide variant (missense variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A +1 more	GUncertain significance
Select item 2676647	NM_001358530.2(MOCS1):c.601G>T (p.Glu201Ter)	MOCS1 (E114* +1 more)	Single nucleotide variant (nonsense +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely pathogenic
Select item 3239732	NM_001358530.2(MOCS1):c.427C>T (p.Gln143Ter)	MOCS1 (Q143* +1 more)	Single nucleotide variant (nonsense +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely pathogenic
Select item 6120	NM_001358530.2(MOCS1):c.418+1G>A	MOCS1	Single nucleotide variant (splice donor variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A +1 more	GPathogenic
Select item 960442	NM_001358530.2(MOCS1):c.398C>T (p.Pro133Leu)	MOCS1 (P133L +1 more)	Single nucleotide variant (missense variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 809931	NM_001358530.2(MOCS1):c.394C>T (p.Arg132Trp)	MOCS1 (R132W +1 more)	Single nucleotide variant (missense variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A +1 more	GConflicting classifications of pathogenicity
Select item 692063	NM_001358530.2(MOCS1):c.377G>A (p.Gly126Asp)	MOCS1 (G126D +1 more)	Single nucleotide variant (missense variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A +1 more	GLikely pathogenic
Select item 2633148	NM_001358530.2(MOCS1):c.306_309dup (p.Thr104fs)	MOCS1 (T104fs +1 more)	Duplication (frameshift variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A +1 more	GPathogenic/Likely pathogenic
Select item 1071304	NM_001358530.2(MOCS1):c.291del (p.Ala99fs)	MOCS1 (A12fs +1 more)	Deletion (frameshift variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GPathogenic/Likely pathogenic
Select item 2676649	NM_001358530.2(MOCS1):c.278dup (p.Leu95fs)	MOCS1 (L8fs +1 more)	Duplication (frameshift variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely pathogenic
Select item 2676645	NM_001358530.2(MOCS1):c.255_264delinsTCCTT (p.Gln85fs)	MOCS1 (M1fs +1 more)	Indel (frameshift variant +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely pathogenic
Select item 3239730	NM_001358530.2(MOCS1):c.252_256delinsG (p.Cys84fs)	MOCS1 (C84fs)	Indel (frameshift variant +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely pathogenic
Select item 6121	NM_001358530.2(MOCS1):c.217C>T (p.Arg73Trp)	MOCS1 (R73W)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2676648	NM_001358530.2(MOCS1):c.124-26_124-25delinsA	MOCS1 (C33fs)	Indel (frameshift variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely pathogenic
Select item 3239731	NM_001358530.2(MOCS1):c.124-32del	MOCS1 (G31fs)	Deletion (frameshift variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely pathogenic
Select item 2676643	NM_001358530.2(MOCS1):c.124-43del	MOCS1 (G28fs)	Deletion (frameshift variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely pathogenic

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Items: 30