"Ambry Genetics"[submitter] AND "C2"[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2458048	NM_181842.3(ZBTB12):c.1134G>A (p.Met378Ile)	C2, ZBTB12 (M378I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333846	NM_181842.3(ZBTB12):c.1016C>T (p.Pro339Leu)	C2, ZBTB12 (P339L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333848	NM_181842.3(ZBTB12):c.913C>T (p.Arg305Trp)	C2, ZBTB12 (R305W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280302	NM_181842.3(ZBTB12):c.822A>C (p.Glu274Asp)	C2, ZBTB12 (E274D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487693	NM_181842.3(ZBTB12):c.781G>T (p.Gly261Cys)	C2, ZBTB12 (G261C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191901	NM_181842.3(ZBTB12):c.757C>G (p.Pro253Ala)	C2, ZBTB12 (P253A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618827	NM_181842.3(ZBTB12):c.611A>G (p.Asp204Gly)	C2, ZBTB12 (D204G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387482	NM_181842.3(ZBTB12):c.567C>G (p.Asp189Glu)	C2, ZBTB12 (D189E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191900	NM_181842.3(ZBTB12):c.520C>T (p.Pro174Ser)	C2, ZBTB12 (P174S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191899	NM_181842.3(ZBTB12):c.479C>T (p.Pro160Leu)	C2, ZBTB12 (P160L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394276	NM_181842.3(ZBTB12):c.418G>A (p.Glu140Lys)	C2, ZBTB12 (E140K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191898	NM_181842.3(ZBTB12):c.32A>G (p.Gln11Arg)	C2, ZBTB12 (Q11R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191897	NM_181842.3(ZBTB12):c.18A>T (p.Glu6Asp)	C2, ZBTB12 (E6D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262433	NM_000063.6(C2):c.81C>G (p.Asn27Lys)	C2 (N27K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2557712	NM_000063.6(C2):c.90C>G (p.Ile30Met)	C2 (I30M)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 1022307	NM_000063.6(C2):c.92C>T (p.Ser31Leu)	C2 (S31L)	Single nucleotide variant (missense variant +3 more)	not specified +1 more	GUncertain significance
Select item 2609738	NM_000063.6(C2):c.104T>C (p.Phe35Ser)	C2 (F35S)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3262435	NM_000063.6(C2):c.109C>A (p.Leu37Ile)	C2 (L37I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3135835	NM_000063.6(C2):c.136C>T (p.Leu46Phe)	C2 (L46F)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2276131	NM_000063.6(C2):c.158A>T (p.Gln53Leu)	C2 (R15W +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3135838	NM_000063.6(C2):c.202G>A (p.Gly68Arg)	C2 (G68R)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2403182	NM_000063.6(C2):c.263G>A (p.Arg88His)	C2 (R59H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2238526	NM_000063.6(C2):c.271G>A (p.Ala91Thr)	C2 (A62T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1919395	NM_000063.6(C2):c.314G>T (p.Gly105Val)	C2 (G76V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 2055423	NM_000063.6(C2):c.325G>A (p.Val109Met)	C2 (V109M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 1422612	NM_000063.6(C2):c.371G>A (p.Arg124Gln)	C2 (R124Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 3262438	NM_000063.6(C2):c.397C>A (p.Pro133Thr)	C2 (P104T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1400333	NM_000063.6(C2):c.446G>C (p.Gly149Ala)	C2 (G17A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2484627	NM_000063.6(C2):c.485G>A (p.Arg162Gln)	C2 (R30Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227592	NM_000063.6(C2):c.524A>G (p.Tyr175Cys)	C2 (I7V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1957467	NM_000063.6(C2):c.550A>G (p.Thr184Ala)	C2 (T155A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3262434	NM_000063.6(C2):c.584G>A (p.Gly195Glu)	C2 (G166E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135840	NM_000063.6(C2):c.940C>G (p.Arg314Gly)	C2, C2-AS1 (R285G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306883	NM_000063.6(C2):c.1171C>T (p.His391Tyr)	C2, C2-AS1 (H145Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135834	NM_000063.6(C2):c.1234G>A (p.Gly412Arg)	C2 (G166R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598118	NM_000063.6(C2):c.1244A>C (p.Lys415Thr)	C2 (K201T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262437	NM_000063.6(C2):c.1492T>G (p.Ser498Ala)	C2 (S366A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262432	NM_000063.6(C2):c.1540G>A (p.Asp514Asn)	C2 (D268N +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3135836	NM_000063.6(C2):c.1758G>A (p.Met586Ile)	C2 (M586I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2187687	NM_000063.6(C2):c.1777C>T (p.Arg593Trp)	C2 (R347W +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1409676	NM_000063.6(C2):c.1911C>G (p.Ser637Arg)	C2 (S391R +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1416715	NM_000063.6(C2):c.1913G>A (p.Cys638Tyr)	C2 (C506Y +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3135837	NM_000063.6(C2):c.2023T>G (p.Cys675Gly)	C2 (C429G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1510880	NM_000063.6(C2):c.2097G>C (p.Trp699Cys)	C2 (W453C +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2600823	NM_000063.6(C2):c.2156G>A (p.Arg719His)	C2 (R473H +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 356260	NM_000063.6(C2):c.2201G>T (p.Arg734Leu)	C2 (R734L +4 more)	Single nucleotide variant (missense variant)	Age related macular degeneration 14 +3 more	GUncertain significance
Select item 2555805	NM_000063.6(C2):c.2208G>C (p.Gln736His)	C2 (Q736H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 47