"Illumina Laboratory Services, Illumina"[submitter] AND "MOCS2"[gene] - ClinVar

Search results

Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 353792	NM_002203.4(ITGA2):c.475_477del	ITGA2, MOCS2	Deletion (3 prime UTR variant +1 more)	Combined molybdoflavoprotein enzyme deficiency +1 more	GBenign
Select item 353796	NM_002203.4(ITGA2):c.*721A>C	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GBenign
Select item 353797	NM_002203.4(ITGA2):c.760_761insTTAT	ITGA2, MOCS2	Insertion (3 prime UTR variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GBenign/Likely benign
Select item 353800	NM_002203.4(ITGA2):c.*894C>T	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GBenign
Select item 353803	NM_002203.4(ITGA2):c.*1252G>A	MOCS2, ITGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GBenign/Likely benign
Select item 353809	NM_002203.4(ITGA2):c.*1764del	ITGA2, MOCS2	Deletion (3 prime UTR variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GLikely benign
Select item 353814	NM_002203.4(ITGA2):c.*2041del	ITGA2, MOCS2	Deletion (3 prime UTR variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GBenign
Select item 353824	NM_002203.4(ITGA2):c.*2505CAAA[3]	ITGA2, MOCS2	Microsatellite (3 prime UTR variant +1 more)	Combined molybdoflavoprotein enzyme deficiency +1 more	GBenign/Likely benign
Select item 353828	NM_002203.4(ITGA2):c.*2570C>T	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GBenign/Likely benign
Select item 353827	NM_002203.4(ITGA2):c.*2570C>A	MOCS2, ITGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GLikely benign
Select item 353829	NM_002203.4(ITGA2):c.*2574C>G	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GBenign/Likely benign
Select item 353838	NM_002203.4(ITGA2):c.*2939C>T	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GBenign/Likely benign
Select item 353839	NM_002203.4(ITGA2):c.*2940G>A	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GBenign
Select item 353840	NM_002203.4(ITGA2):c.*2999A>G	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GBenign
Select item 353841	NM_002203.4(ITGA2):c.*3026A>G	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GBenign
Select item 353846	NM_002203.4(ITGA2):c.*3164G>A	ITGA2, MOCS2	Single nucleotide variant (non-coding transcript variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GBenign/Likely benign
Select item 353851	NM_002203.4(ITGA2):c.3385_3386insGAAA	ITGA2, MOCS2	Insertion (3 prime UTR variant +1 more)	Combined molybdoflavoprotein enzyme deficiency +1 more	GBenign
Select item 353857	NM_002203.4(ITGA2):c.3763_3764del	ITGA2, MOCS2	Deletion (3 prime UTR variant +1 more)	Combined molybdoflavoprotein enzyme deficiency +1 more	GBenign/Likely benign
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 353860	NM_002203.4(ITGA2):c.*3918G>C	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GBenign/Likely benign
Select item 353861	NM_002203.4(ITGA2):c.*3986A>C	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GBenign
Select item 353867	NM_002203.4(ITGA2):c.*4045AGT[1]	ITGA2, MOCS2	Microsatellite (non-coding transcript variant +1 more)	Combined molybdoflavoprotein enzyme deficiency +1 more	GBenign/Likely benign
Select item 353868	NM_002203.4(ITGA2):c.*4098C>G	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GBenign/Likely benign
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	GLikely benign
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 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 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 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 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 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 903787	NM_004531.5(MOCS2):c.*2415C>T	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant)	Platelet-type bleeding disorder 9 +1 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 903789	NM_004531.5(MOCS2):c.*2158C>T	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant)	Platelet-type bleeding disorder 9 +1 more	GBenign
Select item 903790	NM_004531.5(MOCS2):c.*2045G>A	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant)	Platelet-type bleeding disorder 9 +1 more	GConflicting classifications of pathogenicity
Select item 905687	NM_004531.5(MOCS2):c.*2032G>A	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant)	Platelet-type bleeding disorder 9 +1 more	GBenign
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 905689	NM_004531.5(MOCS2):c.*1913G>A	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B +2 more	GBenign/Likely benign
Select item 905690	NM_004531.5(MOCS2):c.*1872C>T	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B +1 more	GBenign
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 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 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 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	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 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 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 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 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	GBenign
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 907210	NM_004531.5(MOCS2):c.*837T>C	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GUncertain significance
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	GBenign
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 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 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 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	GBenign
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 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 353870	NM_004531.5(MOCS2):c.*413del	ITGA2, MOCS2	Deletion (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
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 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 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 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 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 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 353875	NM_004531.5(MOCS2):c.*44A>C	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B +2 more	GConflicting classifications of pathogenicity
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 809757	NM_004531.5(MOCS2):c.415G>A (p.Val139Met)	MOCS2 (V139M)	Single nucleotide variant (missense variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B +1 more	GUncertain significance
Select item 218640	NM_004531.5(MOCS2):c.367C>T (p.His123Tyr)	MOCS2 (H123Y)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 6110	NM_004531.5(MOCS2):c.346_349del (p.Val116fs)	MOCS2 (V116fs)	Deletion (frameshift variant +1 more)	not provided +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 353877	NM_004531.5(MOCS2):c.261C>T (p.Val87=)	MOCS2	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B +1 more	GConflicting classifications of pathogenicity
Select item 353878	NM_004531.5(MOCS2):c.255A>G (p.Lys85=)	MOCS2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 906271	NM_004531.5(MOCS2):c.229A>G (p.Thr77Ala)	MOCS2 (T77A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 353879	NM_004531.5(MOCS2):c.148A>G (p.Thr50Ala)	MOCS2 (T50A)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 907270	NM_004531.5(MOCS2):c.104A>G (p.Asp35Gly)	MOCS2 (D35G)	Single nucleotide variant (missense variant +1 more)	MOCS2-related condition +2 more	GBenign/Likely benign
Select item 353880	NM_004531.5(MOCS2):c.99-8_99-5del	MOCS2	Deletion (intron variant)	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 353882	NM_176806.4(MOCS2):c.117G>A (p.Lys39=)	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 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 353884	NM_176806.4(MOCS2):c.14G>A (p.Cys5Tyr)	MOCS2, LOC129993881 (C5Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 353885	NM_176806.4(MOCS2):c.7C>T (p.Pro3Ser)	MOCS2, LOC129993881 (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 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 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

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Items: 82