Related gene-specific medical variations for Gene (Select 54796) - ClinVar

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Links from Gene

Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3034255	NM_017637.6(BNC2):c.2208A>G (p.Glu736=)	BNC2, LOC126860585	Single nucleotide variant (synonymous variant)	BNC2-related disorder	GLikely benign
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 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 3008053	NM_017637.6(BNC2):c.2187G>A (p.Ser729=)	BNC2, LOC126860585	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2168568	NM_017637.6(BNC2):c.2349C>T (p.Tyr783=)	BNC2, LOC126860585	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2104303	NM_017637.6(BNC2):c.2116A>C (p.Arg706=)	BNC2, LOC126860585	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2096014	NM_017637.6(BNC2):c.2056A>C (p.Met686Leu)	BNC2, LOC126860585 (M686L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2070219	NM_017637.6(BNC2):c.1801A>G (p.Ile601Val)	BNC2, LOC126860585 (I559V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2070041	NM_017637.6(BNC2):c.1818G>A (p.Pro606=)	BNC2, LOC126860585	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2056029	NM_017637.6(BNC2):c.2124C>T (p.Ala708=)	BNC2, LOC126860585	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2049550	NM_017637.6(BNC2):c.2070C>T (p.Asp690=)	BNC2, LOC126860585	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
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 1656143	NM_017637.6(BNC2):c.2344A>G (p.Thr782Ala)	BNC2, LOC126860585 (T687A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1456811	NM_017637.6(BNC2):c.2159G>A (p.Arg720Gln)	BNC2, LOC126860585 (R625Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
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 980892	GRCh37/hg19 9p22.2(chr9:16861050-16925108)x1	BNC2	Copy number loss	not provided	GLikely benign
Select item 783541	NM_017637.6(BNC2):c.1817C>T (p.Pro606Leu)	BNC2, LOC126860585 (P511L +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 563600	GRCh37/hg19 9p22.2(chr9:16814126-16989246)x1	BNC2	Copy number loss	not provided	GLikely benign
Select item 443465	GRCh37/hg19 9p22.3-22.2(chr9:16456241-16947918)x1	BNC2	Copy number loss	See cases	GUncertain significance
Select item 120236	NM_017637.6(BNC2):c.2478A>G (p.Leu826=)	BNC2, LOC126860585	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 120235	NM_017637.6(BNC2):c.2202C>T (p.Gly734=)	BNC2, LOC126860585	Single nucleotide variant (synonymous variant)	Hypotension	Gnot provided
Select item 120234	NM_017637.6(BNC2):c.2051C>T (p.Pro684Leu)	BNC2, LOC126860585 (P684L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 120233	NM_017637.6(BNC2):c.1947C>T (p.Thr649=)	BNC2, LOC126860585	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 120232	NM_017637.6(BNC2):c.1868C>A (p.Pro623His)	BNC2, LOC126860585 (P623H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 120231	NM_017637.6(BNC2):c.1738G>A (p.Gly580Arg)	BNC2, LOC126860585 (G580R +2 more)	Single nucleotide variant (missense variant)	Hypotension	Gnot provided
Select item 120227	NM_017637.6(BNC2):c.1239T>C (p.Asp413=)	BNC2	Single nucleotide variant (synonymous variant)	Hypotension	Gnot provided

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Items: 67