"Ambry Genetics"[submitter] AND "MATCAP2"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3123929	NM_001199706.2(MATCAP2):c.1492C>T (p.His498Tyr)	MATCAP2 (H256Y +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123927	NM_001199706.2(MATCAP2):c.1264G>A (p.Ala422Thr)	MATCAP2 (A322T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123926	NM_001199706.2(MATCAP2):c.1081C>G (p.Pro361Ala)	MATCAP2 (P119A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123939	NM_001199706.2(MATCAP2):c.959A>G (p.His320Arg)	MATCAP2 (H320R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489011	NM_001199706.2(MATCAP2):c.952C>T (p.Arg318Cys)	MATCAP2 (R270C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493406	NM_001199706.2(MATCAP2):c.944C>G (p.Ser315Cys)	MATCAP2 (S318C +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2454423	NM_001199706.2(MATCAP2):c.709A>C (p.Lys237Gln)	MATCAP2 (K288Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123938	NM_001199706.2(MATCAP2):c.580A>G (p.Thr194Ala)	MATCAP2 (T245A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123937	NM_001199706.2(MATCAP2):c.563T>C (p.Leu188Ser)	MATCAP2 (L188S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123936	NM_001199706.2(MATCAP2):c.557G>A (p.Cys186Tyr)	MATCAP2 (C237Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123935	NM_001199706.2(MATCAP2):c.490C>G (p.Pro164Ala)	MATCAP2 (P164A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123933	NM_001199706.2(MATCAP2):c.485C>T (p.Thr162Ile)	MATCAP2 (T162I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552094	NM_001199706.2(MATCAP2):c.388A>C (p.Ser130Arg)	MATCAP2 (S130R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459963	NM_001199706.2(MATCAP2):c.356G>A (p.Arg119Gln)	MATCAP2 (R157Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3123931	NM_001199706.2(MATCAP2):c.290A>G (p.Asp97Gly)	MATCAP2 (D97G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2518403	NM_001199706.2(MATCAP2):c.239C>T (p.Ser80Phe)	MATCAP2 (S118F +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2606082	NM_001199706.2(MATCAP2):c.221A>G (p.Gln74Arg)	MATCAP2 (Q74R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2468946	NM_001199706.2(MATCAP2):c.200A>C (p.Lys67Thr)	MATCAP2 (K105T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3123930	NM_001199706.2(MATCAP2):c.142G>T (p.Asp48Tyr)	MATCAP2 (D48Y +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3123932	NM_001100425.2(MATCAP2):c.49C>A (p.Arg17Ser)	ANLN, MATCAP2 (R17S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 20