"Ambry Genetics"[submitter] AND "BNC2"[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3134663	NM_017637.6(BNC2):c.3293T>C (p.Val1098Ala)	BNC2 (V1003A +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3134661	NM_017637.6(BNC2):c.3092G>C (p.Ser1031Thr)	BNC2 (S1031T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2600890	NM_017637.6(BNC2):c.3073T>C (p.Phe1025Leu)	BNC2 (F1025L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2254734	NM_017637.6(BNC2):c.3026C>T (p.Pro1009Leu)	BNC2 (P1009L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2525127	NM_017637.6(BNC2):c.3022G>A (p.Ala1008Thr)	BNC2 (A1008T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2177760	NM_017637.6(BNC2):c.3019G>A (p.Glu1007Lys)	BNC2 (E1007K +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3134660	NM_017637.6(BNC2):c.2977A>G (p.Ile993Val)	BNC2 (I898V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2354291	NM_017637.6(BNC2):c.2788G>A (p.Asp930Asn)	BNC2 (D930N +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2592561	NM_017637.6(BNC2):c.2761T>C (p.Tyr921His)	BNC2 (Y826H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2369614	NM_017637.6(BNC2):c.2760A>G (p.Ile920Met)	BNC2 (I825M +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2366483	NM_017637.6(BNC2):c.2738G>A (p.Arg913His)	BNC2 (R818H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3134659	NM_017637.6(BNC2):c.2723T>G (p.Leu908Arg)	BNC2 (L813R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2595431	NM_017637.6(BNC2):c.2711C>T (p.Ser904Leu)	BNC2 (S809L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2239965	NM_017637.6(BNC2):c.2666G>A (p.Arg889His)	BNC2 (R794H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2475997	NM_017637.6(BNC2):c.2665C>T (p.Arg889Cys)	BNC2 (R889C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2214942	NM_017637.6(BNC2):c.2499A>C (p.Lys833Asn)	BNC2, LOC126860585 (K833N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401564	NM_017637.6(BNC2):c.2372A>G (p.Tyr791Cys)	BNC2, LOC126860585 (Y696C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221760	NM_017637.6(BNC2):c.2369A>G (p.Gln790Arg)	BNC2, LOC126860585 (Q748R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522186	NM_017637.6(BNC2):c.2354T>C (p.Met785Thr)	BNC2, LOC126860585 (M785T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3134658	NM_017637.6(BNC2):c.2279A>T (p.Asp760Val)	BNC2, LOC126860585 (D718V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3134657	NM_017637.6(BNC2):c.2273G>A (p.Arg758Lys)	BNC2, LOC126860585 (R716K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604377	NM_017637.6(BNC2):c.2264A>C (p.Asn755Thr)	BNC2, LOC126860585 (N660T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407440	NM_017637.6(BNC2):c.2223T>G (p.Asp741Glu)	BNC2, LOC126860585 (D699E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3134656	NM_017637.6(BNC2):c.2173G>A (p.Glu725Lys)	BNC2, LOC126860585 (E725K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3134655	NM_017637.6(BNC2):c.2120G>A (p.Arg707Lys)	BNC2, LOC126860585 (R665K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238088	NM_017637.6(BNC2):c.2108C>T (p.Thr703Ile)	BNC2, LOC126860585 (T608I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388546	NM_017637.6(BNC2):c.2093G>A (p.Arg698Gln)	BNC2, LOC126860585 (R656Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621345	NM_017637.6(BNC2):c.2044A>T (p.Met682Leu)	BNC2, LOC126860585 (M640L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2342779	NM_017637.6(BNC2):c.2003A>G (p.Asn668Ser)	BNC2, LOC126860585 (N668S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2403307	NM_017637.6(BNC2):c.1982A>G (p.Asn661Ser)	BNC2, LOC126860585 (N566S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3134654	NM_017637.6(BNC2):c.1940T>C (p.Ile647Thr)	BNC2, LOC126860585 (I647T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317800	NM_017637.6(BNC2):c.1816C>T (p.Pro606Ser)	BNC2, LOC126860585 (P564S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480949	NM_017637.6(BNC2):c.1813C>T (p.Pro605Ser)	BNC2, LOC126860585 (P510S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326364	NM_017637.6(BNC2):c.1776T>A (p.Ser592Arg)	BNC2, LOC126860585 (S550R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378503	NM_017637.6(BNC2):c.1619G>A (p.Gly540Asp)	BNC2 (G498D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2054265	NM_017637.6(BNC2):c.1607G>A (p.Arg536Gln)	BNC2 (R536Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2324561	NM_017637.6(BNC2):c.1576A>G (p.Lys526Glu)	BNC2 (K484E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1949950	NM_017637.6(BNC2):c.1272C>G (p.Phe424Leu)	BNC2 (F382L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2340300	NM_017637.6(BNC2):c.1186A>G (p.Lys396Glu)	BNC2 (K354E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2175093	NM_017637.6(BNC2):c.1144C>G (p.Pro382Ala)	BNC2 (P382A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3134652	NM_017637.6(BNC2):c.1108G>A (p.Glu370Lys)	BNC2 (E370K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238312	NM_017637.6(BNC2):c.1063C>A (p.Pro355Thr)	BNC2 (P313T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3032938	NM_017637.6(BNC2):c.1046G>A (p.Gly349Glu)	BNC2 (G254E +2 more)	Single nucleotide variant (missense variant)	BNC2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2604831	NM_017637.6(BNC2):c.988C>A (p.Pro330Thr)	BNC2 (P330T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613588	NM_017637.6(BNC2):c.983T>C (p.Ile328Thr)	BNC2 (I286T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494181	NM_017637.6(BNC2):c.830A>C (p.Lys277Thr)	BNC2 (K182T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472453	NM_017637.6(BNC2):c.811G>A (p.Val271Met)	BNC2 (V176M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3134664	NM_017637.6(BNC2):c.530A>G (p.Tyr177Cys)	BNC2 (Y135C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268609	NM_017637.6(BNC2):c.502G>A (p.Val168Met)	BNC2 (V126M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3134662	NM_017637.6(BNC2):c.317G>C (p.Arg106Thr)	BNC2 (R106T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2260742	NM_017637.6(BNC2):c.281G>C (p.Gly94Ala)	BNC2 (G52A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2222725	NM_017637.6(BNC2):c.257C>T (p.Thr86Ile)	BNC2 (T44I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2471299	NM_017637.6(BNC2):c.235A>G (p.Met79Val)	BNC2 (M79V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2511999	NM_017637.6(BNC2):c.221G>C (p.Cys74Ser)	BNC2 (C32S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 778410	NM_017637.6(BNC2):c.167C>G (p.Thr56Arg)	BNC2 (T56R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2248495	NM_017637.6(BNC2):c.159A>C (p.Glu53Asp)	BNC2 (E11D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2259351	NM_017637.6(BNC2):c.119C>T (p.Ser40Phe)	BNC2 (S40F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2610056	NM_017637.6(BNC2):c.92A>C (p.Lys31Thr)	BNC2 (K31T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 58