ClinVar for Gene (Select 54796) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 3065806	NM_017637.6(BNC2):c.1010G>C (p.Gly337Ala)	BNC2 (G242A +2 more)	Single nucleotide variant (missense variant)	Lower urinary tract obstruction, congenital	GUncertain significance
Select item 3063107	GRCh37/hg19 9p22.2(chr9:16868677-16962038)x3	BNC2	Copy number gain	not specified	GUncertain significance
Select item 3063095	GRCh37/hg19 9p22.2(chr9:16800693-16861204)x1	BNC2	Copy number loss	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 3063070	GRCh37/hg19 9p24.3-22.1(chr9:203861-19302836)x1	ADAMTSL1, AK3 +57 more	Copy number loss	not specified	GPathogenic
Select item 3050605	NM_017637.6(BNC2):c.669+10G>A	BNC2	Single nucleotide variant (intron variant)	BNC2-related disorder	GLikely benign
Select item 3049679	NM_017637.6(BNC2):c.2636+496C>T	BNC2 (H852Y)	Single nucleotide variant (missense variant +1 more)	BNC2-related disorder	GLikely benign
Select item 3034255	NM_017637.6(BNC2):c.2208A>G (p.Glu736=)	BNC2, LOC126860585	Single nucleotide variant (synonymous variant)	BNC2-related disorder	GLikely benign
Select item 3032938	NM_017637.6(BNC2):c.1046G>A (p.Gly349Glu)	BNC2 (G254E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3023046	NM_017637.6(BNC2):c.2389G>C (p.Gly797Arg)	BNC2, LOC126860585 (G797R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3022622	NM_017637.6(BNC2):c.694C>T (p.Arg232Cys)	BNC2 (R137C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3017318	NM_017637.6(BNC2):c.2639+9A>G	BNC2, LOC126860585	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3016151	NM_017637.6(BNC2):c.2624G>A (p.Arg875His)	BNC2, LOC126860585 (R875H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015510	NM_017637.6(BNC2):c.2685A>G (p.Glu895=)	BNC2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3008053	NM_017637.6(BNC2):c.2187G>A (p.Ser729=)	BNC2, LOC126860585	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998057	NM_017637.6(BNC2):c.1705G>A (p.Val569Ile)	BNC2 (V527I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997843	NM_017637.6(BNC2):c.2487C>T (p.Ser829=)	BNC2, LOC126860585	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995957	NM_017637.6(BNC2):c.1440T>C (p.Phe480=)	BNC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990160	NM_017637.6(BNC2):c.2699G>T (p.Gly900Val)	BNC2 (G805V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2986477	NM_017637.6(BNC2):c.1274G>A (p.Arg425Gln)	BNC2 (R425Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984764	NM_017637.6(BNC2):c.2541T>C (p.Ser847=)	BNC2, LOC126860585	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979234	NM_017637.6(BNC2):c.2070C>G (p.Asp690Glu)	BNC2, LOC126860585 (D648E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976845	NM_017637.6(BNC2):c.720G>A (p.Glu240=)	BNC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973134	NM_017637.6(BNC2):c.3089G>A (p.Gly1030Glu)	BNC2 (G1030E +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2972308	NM_017637.6(BNC2):c.1571G>C (p.Ser524Thr)	BNC2 (S482T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970127	NM_017637.6(BNC2):c.1535G>A (p.Arg512Gln)	BNC2 (R470Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970052	NM_017637.6(BNC2):c.2640-20del	BNC2	Deletion (intron variant)	not provided	GBenign
Select item 2968286	NM_017637.6(BNC2):c.1392C>T (p.His464=)	BNC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966597	NM_017637.6(BNC2):c.360A>G (p.Thr120=)	BNC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957298	NM_017637.6(BNC2):c.2430G>A (p.Ser810=)	BNC2, LOC126860585	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908733	NM_017637.6(BNC2):c.1950C>T (p.Ala650=)	BNC2, LOC126860585	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2907637	NM_017637.6(BNC2):c.2802C>T (p.Asp934=)	BNC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2900938	NM_017637.6(BNC2):c.296C>G (p.Ala99Gly)	BNC2 (A99G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2898568	NM_017637.6(BNC2):c.2311G>A (p.Val771Ile)	BNC2, LOC126860585 (V676I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896274	NM_017637.6(BNC2):c.2290A>G (p.Ser764Gly)	BNC2, LOC126860585 (S669G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2890164	NM_017637.6(BNC2):c.627T>C (p.Leu209=)	BNC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888266	NM_017637.6(BNC2):c.2221G>A (p.Asp741Asn)	BNC2, LOC126860585 (D699N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2880873	NM_017637.6(BNC2):c.13G>A (p.Gly5Arg)	BNC2 (G5R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2874334	NM_017637.6(BNC2):c.283A>C (p.Thr95Pro)	BNC2 (T95P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2873605	NM_017637.6(BNC2):c.582C>T (p.Phe194=)	BNC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2851406	NM_017637.6(BNC2):c.1874C>A (p.Ala625Asp)	BNC2, LOC126860585 (A583D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2824496	NM_017637.6(BNC2):c.2724T>C (p.Leu908=)	BNC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2797994	NM_017637.6(BNC2):c.2676G>T (p.Leu892Phe)	BNC2 (L797F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2786156	NM_017637.6(BNC2):c.1973A>T (p.Asp658Val)	BNC2, LOC126860585 (D563V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2768109	NM_017637.6(BNC2):c.1980C>T (p.Pro660=)	BNC2, LOC126860585	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2767660	NM_017637.6(BNC2):c.663C>T (p.Ile221=)	BNC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2745173	NM_017637.6(BNC2):c.538C>G (p.Gln180Glu)	BNC2 (Q180E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2742660	NM_017637.6(BNC2):c.330+4A>G	BNC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2727274	NM_017637.6(BNC2):c.3+7A>C	BNC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2721374	NM_017637.6(BNC2):c.2353A>T (p.Met785Leu)	BNC2, LOC126860585 (M743L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2704281	NM_017637.6(BNC2):c.1948G>A (p.Ala650Thr)	BNC2, LOC126860585 (A555T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2685342	GRCh37/hg19 9p22.2-22.1(chr9:16814127-19131921)x1	ADAMTSL1, BNC2 +6 more	Copy number loss	not provided	GUncertain significance
Select item 2684574	GRCh37/hg19 9p22.2(chr9:16629923-17450346)x3	BNC2, CNTLN	Copy number gain	not provided	GUncertain significance
Select item 2684569	GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	ACER2, ACO1 +188 more	Copy number gain	not provided	GPathogenic
Select item 2672121	NM_017637.6(BNC2):c.1907C>G (p.Ser636Ter)	BNC2, LOC126860585 (S541* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2671611	Single allele	AK3, BNC2 +49 more	Deletion	not provided	GPathogenic
Select item 2630663	NM_017637.6(BNC2):c.982A>G (p.Ile328Val)	BNC2 (I233V +2 more)	Single nucleotide variant (missense variant)	BNC2-related disorder	GUncertain significance
Select item 2629468	NM_017637.6(BNC2):c.1802T>C (p.Ile601Thr)	BNC2, LOC126860585 (I506T +2 more)	Single nucleotide variant (missense variant)	BNC2-related disorder	GUncertain significance
Select item 2629180	NM_017637.6(BNC2):c.696C>G (p.Arg232=)	BNC2	Single nucleotide variant (synonymous variant)	BNC2-related disorder	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 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 2610056	NM_017637.6(BNC2):c.92A>C (p.Lys31Thr)	BNC2 (K31T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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 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 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 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 2572306	NM_017637.6(BNC2):c.2164T>G (p.Tyr722Asp)	BNC2, LOC126860585 (Y627D +2 more)	Single nucleotide variant (missense variant)	not provided	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 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 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 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 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 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 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 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 2426334	NC_000009.11:g.(?_16418987)_(16870646_?)dup	BNC2	Duplication	not provided	GUncertain significance
Select item 2419689	NM_017637.6(BNC2):c.1637T>C (p.Leu546Pro)	BNC2 (L451P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2413696	NM_017637.6(BNC2):c.1760C>G (p.Thr587Ser)	BNC2, LOC126860585 (T492S +2 more)	Single nucleotide variant (missense variant)	not provided	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 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 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 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 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 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 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 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

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