Related gene-specific medical variations for Gene (Select 4338) - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064528	NM_004531.5(MOCS2):c.214_215insA (p.Ser72fs)	MOCS2 (S72fs)	Insertion (frameshift variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GUncertain significance
Select item 2863043	NM_004531.5(MOCS2):c.-617G>T	LOC129993881, MOCS2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2834251	NM_176806.4(MOCS2):c.3G>T (p.Met1Ile)	LOC129993881, MOCS2 (M1I)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GPathogenic
Select item 2833050	NM_176806.4(MOCS2):c.12del (p.Cys5fs)	LOC129993881, MOCS2 (C5fs)	Deletion (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2830351	NM_004531.5(MOCS2):c.-618G>A	LOC129993881, MOCS2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2805730	NM_004531.5(MOCS2):c.-611G>T	LOC129993881, MOCS2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2802146	NM_176806.4(MOCS2):c.10C>T (p.Leu4=)	LOC129993881, MOCS2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2778932	NM_004531.5(MOCS2):c.-619G>T	LOC129993881, MOCS2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2727260	NM_176806.4(MOCS2):c.18+2T>A	LOC129993881, MOCS2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 2582660	NM_176806.4(MOCS2):c.18+1G>C	LOC129993881, MOCS2	Single nucleotide variant (5 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GLikely pathogenic
Select item 2441783	NM_004531.5(MOCS2):c.58del (p.Ser20fs)	MOCS2 (I82fs +1 more)	Deletion (frameshift variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GLikely pathogenic
Select item 2071662	NM_176806.4(MOCS2):c.18+1G>A	LOC129993881, MOCS2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 2021307	NM_176806.4(MOCS2):c.9G>T (p.Pro3=)	LOC129993881, MOCS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1972861	NM_004531.5(MOCS2):c.-623_-621del	LOC129993881, MOCS2	Deletion (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1630348	NM_176806.4(MOCS2):c.6G>A (p.Val2=)	LOC129993881, MOCS2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1626014	NM_176806.4(MOCS2):c.6G>T (p.Val2=)	LOC129993881, MOCS2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1582388	NM_004531.5(MOCS2):c.-620C>A	LOC129993881, MOCS2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1456543	NM_176806.4(MOCS2):c.1A>G (p.Met1Val)	LOC129993881, MOCS2 (M1V)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GPathogenic
Select item 1419592	NM_004531.5(MOCS2):c.-628A>G	LOC129993881, MOCS2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1402501	NM_004531.5(MOCS2):c.-625G>A	LOC129993881, MOCS2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1393896	NM_176806.4(MOCS2):c.17A>G (p.Gln6Arg)	LOC129993881, MOCS2 (Q6R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1363283	NM_176806.4(MOCS2):c.8C>T (p.Pro3Leu)	LOC129993881, MOCS2 (P3L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1357605	NM_004531.5(MOCS2):c.-620C>T	LOC129993881, MOCS2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1290179	NM_004531.5(MOCS2):c.-521A>T	LOC129993881, MOCS2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1013254	NM_004531.5(MOCS2):c.-625G>C	LOC129993881, MOCS2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 870563	NM_176806.4(MOCS2):c.18+1G>T	LOC129993881, MOCS2	Single nucleotide variant (5 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GUncertain significance
Select item 813890	NM_176806.4(MOCS2):c.3G>A (p.Met1Ile)	LOC129993881, MOCS2 (M1I)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 809762	NM_176806.4(MOCS2):c.79T>C (p.Ser27Pro)	MOCS2 (S27P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 353886	NM_004531.5(MOCS2):c.-664C>A	LOC129993881, MOCS2	Single nucleotide variant (5 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GUncertain significance
Select item 353885	NM_176806.4(MOCS2):c.7C>T (p.Pro3Ser)	LOC129993881, MOCS2 (P3S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 353884	NM_176806.4(MOCS2):c.14G>A (p.Cys5Tyr)	LOC129993881, MOCS2 (C5Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 353883	NM_004531.5(MOCS2):c.-622G>A	LOC129993881, MOCS2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 6116	NM_176806.4(MOCS2):c.-8_15del (p.Met1fs)	LOC129993881, MOCS2 (M1fs)	Deletion (5 prime UTR variant +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GLikely pathogenic
Select item 6113	NM_176806.4(MOCS2):c.16C>T (p.Gln6Ter)	LOC129993881, MOCS2 (Q6*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GPathogenic

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Items: 34