BNC2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	LOC130001767, LOC130001768 +1006 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	CDKN2B, CDKN2B-AS1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	LOC130001680, LOC130001681 +1062 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	LOC124210611, LOC124210612 +1120 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	LOC130001484, LOC130001485 +883 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LOC130001854, LOC130001855 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153184	GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4	LOC130001517, LOC130001518 +484 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150819	GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3	ACER2, ADAMTSL1 +458 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001585, LOC130001586 +984 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	LOC130001507, LOC130001508 +899 more	Copy number gain	See cases	GPathogenic
Select item 150116	GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3	ACER2, ACO1 +582 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	LOC130001746, LOC130001747 +980 more	Copy number gain	See cases	GPathogenic
Select item 146394	GRCh38/hg38 9p24.3-22.1(chr9:204104-18882281)x1	SNORD137, SPATA6L +303 more	Copy number loss	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ACER2, ACO1 +899 more	Copy number gain	See cases	GPathogenic
Select item 146719	GRCh38/hg38 9p24.3-22.2(chr9:204193-16897580)x1	SMARCA2, SNAPC3 +290 more	Copy number loss	See cases	GPathogenic
Select item 144343	GRCh38/hg38 9p24.3-22.2(chr9:204193-18073359)x1	LOC130001522, LOC130001523 +297 more	Copy number loss	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59839	GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3	ACER2, ACO1 +539 more	Copy number gain	See cases	GPathogenic
Select item 59836	GRCh38/hg38 9p24.3-21.3(chr9:204193-22086858)x3	LOC130001520, LOC130001521 +410 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	SPATA31F3, SPATA31G1 +898 more	Copy number gain	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ANKRD18B, APTX +899 more	Copy number gain	See cases	GPathogenic
Select item 146356	GRCh38/hg38 9p24.3-22.1(chr9:220253-18708805)x1	LOC105375972, LOC105375976 +295 more	Copy number loss	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	ACER2, ACO1 +894 more	Copy number gain	See cases	GPathogenic
Select item 59064	GRCh38/hg38 9p24.3-22.2(chr9:220253-18073359)x1	ADAMTSL1, AK3 +292 more	Copy number loss	See cases	GPathogenic
Select item 144555	GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3	SLC1A1, SLC24A2 +461 more	Copy number gain	See cases	GPathogenic
Select item 149484	GRCh38/hg38 9p24.3-21.3(chr9:459131-24207894)x3	CDKN2B, CDKN2B-AS1 +412 more	Copy number gain	See cases	GPathogenic
Select item 147501	GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3	LOC126860594, LOC126860595 +355 more	Copy number gain	See cases	GPathogenic
Select item 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	ACER2, ACO1 +586 more	Copy number gain	See cases	GPathogenic
Select item 59878	GRCh38/hg38 9p23-21.1(chr9:9543538-30266463)x3	ACER2, ADAMTSL1 +243 more	Copy number gain	See cases	GPathogenic
Select item 57009	GRCh38/hg38 9p23-22.2(chr9:9661633-18034356)x1	ADAMTSL1, BNC2 +67 more	Copy number loss	See cases	GPathogenic
Select item 57336	GRCh38/hg38 9p23-22.2(chr9:11086096-17636671)x1	BNC2, BNC2-AS1 +59 more	Copy number loss	See cases	GPathogenic
Select item 59101	GRCh38/hg38 9p23-22.2(chr9:11818291-17963882)x1	ADAMTSL1, BNC2 +61 more	Copy number loss	See cases	GPathogenic
Select item 58466	GRCh38/hg38 9p22.3-22.2(chr9:16251208-16830847)x3	BNC2, BNC2-AS1 +8 more	Copy number gain	See cases	GUncertain significance
Select item 58467	GRCh38/hg38 9p22.3-22.2(chr9:16281248-16779434)x3	BNC2, BNC2-AS1 +5 more	Copy number gain	See cases	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 1963561	NM_017637.6(BNC2):c.3095A>G (p.Asn1032Ser)	BNC2 (N937S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	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 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 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 1940590	NM_017637.6(BNC2):c.3058T>G (p.Ser1020Ala)	BNC2 (S1020A +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	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 2053258	NM_017637.6(BNC2):c.3024C>T (p.Ala1008=)	BNC2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
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)	not provided +1 more	GUncertain significance
Select item 2077000	NM_017637.6(BNC2):c.3017C>T (p.Ala1006Val)	BNC2 (A1006V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1973816	NM_017637.6(BNC2):c.3006G>A (p.Ser1002=)	BNC2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2190833	NM_017637.6(BNC2):c.3005C>T (p.Ser1002Leu)	BNC2 (S1002L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	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 2069520	NM_017637.6(BNC2):c.2973T>C (p.Asp991=)	BNC2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1548286	NM_017637.6(BNC2):c.2952C>T (p.Ser984=)	BNC2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 120240	NM_017637.6(BNC2):c.2920A>G (p.Ile974Val)	BNC2 (I974V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 870151	NM_017637.6(BNC2):c.2860G>A (p.Ala954Thr)	BNC2, BNC2-AS1 (A859T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta +1 more	GBenign/Likely benign
Select item 2907637	NM_017637.6(BNC2):c.2802C>T (p.Asp934=)	BNC2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 120239	NM_017637.6(BNC2):c.2789A>G (p.Asp930Gly)	BNC2 (D930G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
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 1957670	NM_017637.6(BNC2):c.2768C>G (p.Ala923Gly)	BNC2 (A828G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 120238	NM_017637.6(BNC2):c.2768C>T (p.Ala923Val)	BNC2 (A923V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
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 120237	NM_017637.6(BNC2):c.2739C>T (p.Arg913=)	BNC2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
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 708872	NM_017637.6(BNC2):c.2733C>A (p.Asp911Glu)	BNC2 (D911E +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2824496	NM_017637.6(BNC2):c.2724T>C (p.Leu908=)	BNC2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
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 2990160	NM_017637.6(BNC2):c.2699G>T (p.Gly900Val)	BNC2 (G805V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	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 2797994	NM_017637.6(BNC2):c.2676G>T (p.Leu892Phe)	BNC2 (L797F +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	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 599348	NM_017637.6(BNC2):c.2663A>G (p.His888Arg)	BNC2 (H888R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Lower urinary tract obstruction, congenital +1 more	GPathogenic
Select item 1600973	NM_017637.6(BNC2):c.2640-20dup	BNC2	Duplication (intron variant)	not provided	GBenign
Select item 2970052	NM_017637.6(BNC2):c.2640-20del	BNC2	Deletion (intron variant)	not provided	GBenign
Select item 624566	NM_017637.6(BNC2):c.2636+499C>T	BNC2 (R853*)	Single nucleotide variant (nonsense +1 more)	Lower Urinary Tract Obstruction +1 more	GPathogenic
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 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 1981038	NM_017637.6(BNC2):c.2583C>T (p.His861=)	BNC2, LOC126860585	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2997843	NM_017637.6(BNC2):c.2487C>T (p.Ser829=)	BNC2, LOC126860585	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 120236	NM_017637.6(BNC2):c.2478A>G (p.Leu826=)	BNC2, LOC126860585	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1335725	NM_017637.6(BNC2):c.2445C>T (p.Gly815=)	BNC2, LOC126860585	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 3261270	NM_017637.6(BNC2):c.2421C>G (p.Ser807Arg)	BNC2, LOC126860585 (S807R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 2060859	NM_017637.6(BNC2):c.2371T>C (p.Tyr791His)	BNC2, LOC126860585 (Y696H +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 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 2168568	NM_017637.6(BNC2):c.2349C>T (p.Tyr783=)	BNC2, LOC126860585	Single nucleotide variant (synonymous variant)	not provided	GBenign

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