ClinVar for MedGen (Select 340760) - ClinVar

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Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233444	NM_004531.5(MOCS2):c.76G>C (p.Asp26His)	MOCS2 (D26H +1 more)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GUncertain significance
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 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 2203648	NM_004531.5(MOCS2):c.78T>C (p.Asp26=)	MOCS2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1504259	NM_176806.4(MOCS2):c.45T>A (p.Ser15Arg)	MOCS2 (S15R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1398529	NM_004531.5(MOCS2):c.241A>T (p.Asn81Tyr)	MOCS2 (N81Y)	Single nucleotide variant (missense variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B +2 more	GUncertain significance
Select item 1386696	NM_001358530.2(MOCS1):c.1751G>A (p.Arg584Gln)	MOCS1 (R568Q +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A +1 more	GUncertain significance
Select item 1236176	NM_004531.5(MOCS2):c.24del (p.Ser9fs)	MOCS2 (L71fs +1 more)	Deletion (frameshift variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GPathogenic
Select item 1236175	NM_176806.4(MOCS2):c.33T>G (p.Tyr11Ter)	MOCS2 (Y11*)	Single nucleotide variant (5 prime UTR variant +1 more)	Combined molybdoflavoprotein enzyme deficiency +1 more	GPathogenic
Select item 1056813	NM_004531.5(MOCS2):c.209C>T (p.Ala70Val)	MOCS2 (A70V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1034387	NM_176806.4(MOCS2):c.172G>A (p.Ala58Thr)	MOCS2 (A58T)	Single nucleotide variant (5 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GUncertain significance
Select item 930940	NM_176806.4(MOCS2):c.30_34del (p.Leu10fs)	MOCS2 (L10fs)	Microsatellite (5 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GLikely pathogenic
Select item 907270	NM_004531.5(MOCS2):c.104A>G (p.Asp35Gly)	MOCS2 (D35G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 907211	NM_004531.5(MOCS2):c.*735G>A	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B +1 more	GBenign
Select item 907210	NM_004531.5(MOCS2):c.*837T>C	MOCS2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 907209	NM_004531.5(MOCS2):c.*876T>C	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GUncertain significance
Select item 907208	NM_004531.5(MOCS2):c.*1011G>A	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B +1 more	GBenign
Select item 907207	NM_004531.5(MOCS2):c.*1167G>A	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GUncertain significance
Select item 907206	NM_004531.5(MOCS2):c.*1284C>G	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GUncertain significance
Select item 907205	NM_004531.5(MOCS2):c.*1424G>A	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GUncertain significance
Select item 907145	NM_004531.5(MOCS2):c.*2609G>C	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GUncertain significance
Select item 907144	NM_004531.5(MOCS2):c.*2651G>T	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GBenign
Select item 907143	NM_004531.5(MOCS2):c.*2672G>C	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GUncertain significance
Select item 907142	NM_004531.5(MOCS2):c.*2675A>C	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GUncertain significance
Select item 907141	NM_004531.5(MOCS2):c.*2877G>T	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GUncertain significance
Select item 907140	NM_004531.5(MOCS2):c.*2900A>G	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B +1 more	GLikely benign
Select item 906271	NM_004531.5(MOCS2):c.229A>G (p.Thr77Ala)	MOCS2 (T77A)	Single nucleotide variant (missense variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B +1 more	GBenign
Select item 906216	NM_004531.5(MOCS2):c.*1483C>T	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GUncertain significance
Select item 906215	NM_004531.5(MOCS2):c.*1544C>A	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B +1 more	GBenign
Select item 906214	NM_004531.5(MOCS2):c.*1545G>A	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GUncertain significance
Select item 906213	NM_004531.5(MOCS2):c.*1658G>A	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GUncertain significance
Select item 906212	NM_004531.5(MOCS2):c.*1673T>C	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GBenign
Select item 905759	NM_004531.5(MOCS2):c.*32C>G	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GUncertain significance
Select item 905758	NM_004531.5(MOCS2):c.*122G>A	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GUncertain significance
Select item 905757	NM_004531.5(MOCS2):c.*344C>T	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GUncertain significance
Select item 905690	NM_004531.5(MOCS2):c.*1872C>T	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 905689	NM_004531.5(MOCS2):c.*1913G>A	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 905688	NM_004531.5(MOCS2):c.*1918A>G	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GUncertain significance
Select item 905687	NM_004531.5(MOCS2):c.*2032G>A	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B +2 more	GBenign
Select item 905632	NM_002203.4(ITGA2):c.*3813G>A	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B +1 more	GUncertain significance
Select item 903864	NM_004531.5(MOCS2):c.*518C>T	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GUncertain significance
Select item 903863	NM_004531.5(MOCS2):c.*566C>T	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B +1 more	GBenign
Select item 903862	NM_004531.5(MOCS2):c.*651G>A	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GUncertain significance
Select item 903861	NM_004531.5(MOCS2):c.*673A>T	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GUncertain significance
Select item 903860	NM_004531.5(MOCS2):c.*722T>C	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GUncertain significance
Select item 903790	NM_004531.5(MOCS2):c.*2045G>A	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B +1 more	GConflicting classifications of pathogenicity
Select item 903789	NM_004531.5(MOCS2):c.*2158C>T	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B +2 more	GBenign
Select item 903788	NM_004531.5(MOCS2):c.*2357T>C	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GLikely benign
Select item 903787	NM_004531.5(MOCS2):c.*2415C>T	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B +2 more	GBenign
Select item 903786	NM_004531.5(MOCS2):c.*2582A>C	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B +1 more	GBenign
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 809757	NM_004531.5(MOCS2):c.415G>A (p.Val139Met)	MOCS2 (V139M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 587578	NM_176806.4(MOCS2):c.134A>C (p.His45Pro)	MOCS2 (H45P)	Single nucleotide variant (5 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GUncertain significance
Select item 587508	NM_004531.5(MOCS2):c.2T>G (p.Met1Arg)	MOCS2 (M1R +1 more)	Single nucleotide variant (missense variant +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GPathogenic
Select item 493409	NM_004531.5(MOCS2):c.108G>A (p.Met36Ile)	MOCS2 (M36I)	Single nucleotide variant (missense variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B +1 more	GUncertain significance
Select item 419958	NM_004531.5(MOCS2):c.226G>A (p.Gly76Arg)	MOCS2 (G76R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 353887	NM_176806.3(MOCS2):c.-37T>C	LOC129993881, MOCS2	Single nucleotide variant	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	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)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B +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)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B +1 more	GConflicting classifications of pathogenicity
Select item 353882	NM_176806.4(MOCS2):c.117G>A (p.Lys39=)	MOCS2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 353881	NM_176806.4(MOCS2):c.178C>T (p.Arg60Cys)	MOCS2 (R60C)	Single nucleotide variant (5 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B +2 more	GConflicting classifications of pathogenicity
Select item 353877	NM_004531.5(MOCS2):c.261C>T (p.Val87=)	MOCS2	Single nucleotide variant (synonymous variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B +1 more	GConflicting classifications of pathogenicity
Select item 353876	NM_004531.5(MOCS2):c.296C>T (p.Ala99Val)	MOCS2 (A99V)	Single nucleotide variant (missense variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B +1 more	GConflicting classifications of pathogenicity
Select item 353875	NM_004531.5(MOCS2):c.*44A>C	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant)	Platelet-type bleeding disorder 9 +2 more	GConflicting classifications of pathogenicity
Select item 353874	NM_004531.5(MOCS2):c.*143G>A	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GUncertain significance
Select item 353873	NM_004531.5(MOCS2):c.*171G>C	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant)	Platelet-type bleeding disorder 9 +2 more	GConflicting classifications of pathogenicity
Select item 353872	NM_004531.5(MOCS2):c.*321A>G	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant)	Platelet-type bleeding disorder 9 +2 more	GConflicting classifications of pathogenicity
Select item 353871	NM_004531.5(MOCS2):c.*372G>A	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GUncertain significance
Select item 353869	NM_004531.5(MOCS2):c.*532G>A	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GUncertain significance
Select item 218640	NM_004531.5(MOCS2):c.367C>T (p.His123Tyr)	MOCS2 (H123Y)	Single nucleotide variant (missense variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B +2 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 6115	NM_004531.5(MOCS2):c.567A>C (p.Ter189Tyr)	MOCS2	Single nucleotide variant (stop lost +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 6114	NM_176806.4(MOCS2):c.19G>T (p.Val7Phe)	MOCS2 (V7F)	Single nucleotide variant (5 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GPathogenic
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
Select item 6112	NM_004531.5(MOCS2):c.3G>A (p.Met1Ile)	MOCS2 (M1I +1 more)	Single nucleotide variant (missense variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GPathogenic
Select item 6111	NM_004531.5(MOCS2):c.65dup (p.Leu23fs)	MOCS2 (I85fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 6110	NM_004531.5(MOCS2):c.346_349del (p.Val116fs)	MOCS2 (V116fs)	Deletion (frameshift variant +1 more)	Combined molybdoflavoprotein enzyme deficiency +1 more	GConflicting classifications of pathogenicity
Select item 6109	NM_004531.5(MOCS2):c.502G>A (p.Glu168Lys)	MOCS2 (E168K)	Single nucleotide variant (missense variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GPathogenic
Select item 6108	NM_004531.5(MOCS2):c.539_540del (p.Lys180fs)	MOCS2 (K180fs)	Deletion (frameshift variant +1 more)	Abnormality of metabolism/homeostasis +2 more	GLikely pathogenic

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Items: 83