Related gene-specific medical variations for Gene (Select 4337) - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 3064447	NM_001358530.2(MOCS1):c.1805T>C (p.Leu602Pro)	MOCS1 (L515P +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
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 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 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 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 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 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
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 1803716	NM_001358530.2(MOCS1):c.418+5G>A	MOCS1	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 1067166	NC_000006.11:g.(?_39892062)_39895188del	MOCS1	Deletion	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely pathogenic
Select item 907106	NM_001201427.2(DAAM2):c.*2366C>T	DAAM2, MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 907105	NM_001201427.2(DAAM2):c.*2246T>C	DAAM2, MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 905659	NM_001201427.2(DAAM2):c.*2818T>C	DAAM2, MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 905658	NM_001201427.2(DAAM2):c.*2691C>T	MOCS1, DAAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 905657	NM_001201427.2(DAAM2):c.*2568G>C	DAAM2, MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 905656	NM_001201427.2(DAAM2):c.*2512C>T	DAAM2, MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 903742	NM_001201427.2(DAAM2):c.*2488C>T	DAAM2, MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 903741	NM_001201427.2(DAAM2):c.*2485A>C	DAAM2, MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 903740	NM_001201427.2(DAAM2):c.*2436C>T	DAAM2, MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 903739	NM_001201427.2(DAAM2):c.*2409G>T	DAAM2, MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 686081	GRCh37/hg19 6p21.2(chr6:39895018-39942774)x4	MOCS1	Copy number gain	not provided	GUncertain significance
Select item 356599	NM_001201427.2(DAAM2):c.*2692G>A	DAAM2, MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 356598	NM_001201427.2(DAAM2):c.*2691C>A	DAAM2, MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GBenign
Select item 356597	NM_001201427.2(DAAM2):c.*2655ATCT[1]	DAAM2, MOCS1	Microsatellite (3 prime UTR variant +1 more)	Combined molybdoflavoprotein enzyme deficiency	GLikely benign
Select item 356596	NM_001201427.2(DAAM2):c.*2655ATCT[3]	DAAM2, MOCS1	Microsatellite (3 prime UTR variant +1 more)	Combined molybdoflavoprotein enzyme deficiency	GUncertain significance
Select item 356595	NM_001201427.2(DAAM2):c.*2609C>T	DAAM2, MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Combined molybdoflavoprotein enzyme deficiency	GUncertain significance
Select item 356594	NM_001201427.2(DAAM2):c.2545_2548dup	DAAM2, MOCS1	Duplication (3 prime UTR variant +1 more)	Combined molybdoflavoprotein enzyme deficiency	GBenign
Select item 356593	NM_001201427.2(DAAM2):c.*2463C>T	DAAM2, MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 356592	NM_001201427.2(DAAM2):c.2451_2455dup	DAAM2, MOCS1	Duplication (3 prime UTR variant +1 more)	Combined molybdoflavoprotein enzyme deficiency	GUncertain significance
Select item 356591	NM_001201427.2(DAAM2):c.*2442C>T	DAAM2, MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 356590	NM_001201427.2(DAAM2):c.*2427C>G	DAAM2, MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GBenign
Select item 356589	NM_001201427.2(DAAM2):c.*2411T>C	DAAM2, MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 356588	NM_001201427.2(DAAM2):c.*2392G>C	DAAM2, MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GBenign
Select item 356587	NM_001201427.2(DAAM2):c.*2378G>A	DAAM2, MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance

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Items: 39