ClinVar for Gene (Select 8412) - ClinVar

Links from Gene

Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3260596	NM_003567.4(BCAR3):c.666G>C (p.Glu222Asp)	BCAR3 (E110D +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260595	NM_003567.4(BCAR3):c.1724G>A (p.Arg575Lys)	BCAR3 (R251K +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3260593	NM_003567.4(BCAR3):c.641G>T (p.Arg214Leu)	BCAR3 (R123L +10 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3260592	NM_003567.4(BCAR3):c.1642G>A (p.Asp548Asn)	BCAR3 (D560N +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260591	NM_003567.4(BCAR3):c.1172C>T (p.Ala391Val)	BCAR3 (A171V +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260590	NM_003567.4(BCAR3):c.2200G>A (p.Asp734Asn)	BCAR3 (D410N +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260589	NM_003567.4(BCAR3):c.394G>A (p.Glu132Lys)	BCAR3, BCAR3-AS1 (E20K +8 more)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 3260588	NM_003567.4(BCAR3):c.2182G>A (p.Asp728Asn)	BCAR3 (D594N +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133296	NM_003567.4(BCAR3):c.909G>T (p.Leu303Phe)	BCAR3 (L177F +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133294	NM_003567.4(BCAR3):c.797A>G (p.Tyr266Cys)	BCAR3 (Y132C +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133293	NM_003567.4(BCAR3):c.778C>T (p.Arg260Trp)	BCAR3 (R260W +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133292	NM_003567.4(BCAR3):c.691G>T (p.Val231Leu)	BCAR3 (V124L +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133290	NM_003567.4(BCAR3):c.643G>A (p.Val215Met)	BCAR3 (V108M +10 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3133289	NM_003567.4(BCAR3):c.620G>A (p.Arg207Gln)	BCAR3 (R100Q +10 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3133288	NM_003567.4(BCAR3):c.301G>A (p.Glu101Lys)	BCAR3 (E113K +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3133287	NM_003567.4(BCAR3):c.2282C>T (p.Ala761Val)	BCAR3 (A437V +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133286	NM_003567.4(BCAR3):c.2156G>A (p.Arg719His)	BCAR3 (R395H +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133284	NM_003567.4(BCAR3):c.2084G>C (p.Arg695Thr)	BCAR3 (R561T +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133283	NM_003567.4(BCAR3):c.1990A>G (p.Lys664Glu)	BCAR3 (K530E +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133280	NM_003567.4(BCAR3):c.1676T>C (p.Met559Thr)	BCAR3 (M235T +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133279	NM_003567.4(BCAR3):c.1552A>G (p.Asn518Asp)	BCAR3 (N384D +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133278	NM_003567.4(BCAR3):c.1517C>T (p.Thr506Met)	BCAR3 (T415M +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133277	NM_003567.4(BCAR3):c.1507G>A (p.Glu503Lys)	BCAR3 (E369K +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133275	NM_003567.4(BCAR3):c.1436A>T (p.Asp479Val)	BCAR3 (D259V +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133274	NM_003567.4(BCAR3):c.1397C>T (p.Pro466Leu)	BCAR3 (P142L +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3133273	NM_003567.4(BCAR3):c.1321G>A (p.Gly441Ser)	BCAR3 (G329S +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133272	NM_003567.4(BCAR3):c.1236C>G (p.Phe412Leu)	BCAR3 (F192L +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3063166	GRCh37/hg19 1p22.1-21.3(chr1:94304238-97280301)x3	ABCA4, ABCD3 +11 more	Copy number gain	not specified	GUncertain significance
Select item 2601061	NM_003567.4(BCAR3):c.1139G>A (p.Arg380Gln)	BCAR3 (R403Q +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598417	NM_003567.4(BCAR3):c.712C>T (p.Arg238Cys)	BCAR3 (R18C +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556583	NM_003567.4(BCAR3):c.1783C>T (p.Arg595Cys)	BCAR3 (R271C +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552222	NM_003567.4(BCAR3):c.1391A>C (p.Glu464Ala)	BCAR3 (E338A +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544149	NM_003567.4(BCAR3):c.268A>C (p.Ile90Leu)	BCAR3 (I113L +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2543654	NM_003567.4(BCAR3):c.23G>A (p.Ser8Asn)	BCAR3 (S20N +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2543384	NM_003567.4(BCAR3):c.1562A>G (p.Glu521Gly)	BCAR3 (E430G +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526892	NM_003567.4(BCAR3):c.2046A>C (p.Lys682Asn)	BCAR3 (K548N +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515762	NM_003567.4(BCAR3):c.449G>A (p.Arg150His)	BCAR3, BCAR3-AS1 (R162H +8 more)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 2512361	NM_003567.4(BCAR3):c.703G>A (p.Val235Met)	BCAR3 (V128M +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478226	NM_003567.4(BCAR3):c.744C>G (p.Ile248Met)	BCAR3 (I157M +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476254	NM_003567.4(BCAR3):c.376A>C (p.Ile126Leu)	BCAR3, BCAR3-AS1 (I126L +7 more)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 2475373	NM_003567.4(BCAR3):c.1271A>C (p.Asn424Thr)	BCAR3 (N317T +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464839	NM_003567.4(BCAR3):c.1796T>C (p.Ile599Thr)	BCAR3 (I379T +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464230	NM_003567.4(BCAR3):c.716G>A (p.Arg239Gln)	BCAR3 (R113Q +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457546	NM_003567.4(BCAR3):c.641G>A (p.Arg214His)	BCAR3 (R102H +10 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2454598	NM_003567.4(BCAR3):c.739G>A (p.Ala247Thr)	BCAR3 (A140T +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404984	NM_003567.4(BCAR3):c.469G>A (p.Gly157Ser)	BCAR3, BCAR3-AS1 (G169S +8 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2403069	NM_003567.4(BCAR3):c.472C>T (p.Arg158Cys)	BCAR3, BCAR3-AS1 (R183C +8 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2392757	NM_003567.4(BCAR3):c.238C>T (p.Arg80Trp)	BCAR3 (R105W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381611	NM_003567.4(BCAR3):c.1834G>C (p.Asp612His)	BCAR3 (D392H +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379802	NM_003567.4(BCAR3):c.1231C>T (p.Pro411Ser)	BCAR3 (P299S +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376388	NM_003567.4(BCAR3):c.2144C>T (p.Thr715Met)	BCAR3 (T581M +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372194	NM_003567.4(BCAR3):c.1771G>A (p.Gly591Arg)	BCAR3 (G371R +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365738	NM_003567.4(BCAR3):c.1587T>A (p.Asn529Lys)	BCAR3 (N309K +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364266	NM_003567.4(BCAR3):c.896G>A (p.Arg299Gln)	BCAR3 (R192Q +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351431	NM_003567.4(BCAR3):c.332T>C (p.Leu111Pro)	BCAR3 (L123P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349877	NM_003567.4(BCAR3):c.2366G>C (p.Gly789Ala)	BCAR3 (G655A +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348597	NM_003567.4(BCAR3):c.657C>A (p.Phe219Leu)	BCAR3 (F128L +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346838	NM_003567.4(BCAR3):c.1807A>C (p.Asn603His)	BCAR3 (N477H +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345065	NM_003567.4(BCAR3):c.586G>A (p.Ala196Thr)	BCAR3 (A105T +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342287	NM_003567.4(BCAR3):c.1036T>C (p.Cys346Arg)	BCAR3 (C212R +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337283	NM_003567.4(BCAR3):c.2354G>A (p.Arg785Gln)	BCAR3 (R461Q +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326283	NM_003567.4(BCAR3):c.841G>C (p.Gly281Arg)	BCAR3 (G155R +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309026	NM_003567.4(BCAR3):c.1376C>G (p.Thr459Arg)	BCAR3 (T135R +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287591	NM_003567.4(BCAR3):c.2237C>T (p.Thr746Ile)	BCAR3 (T612I +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278440	NM_003567.4(BCAR3):c.1630T>G (p.Phe544Val)	BCAR3 (F556V +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272610	NM_003567.4(BCAR3):c.1677G>A (p.Met559Ile)	BCAR3 (M235I +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259174	NM_003567.4(BCAR3):c.1948C>T (p.Leu650Phe)	BCAR3 (L538F +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229636	NM_003567.4(BCAR3):c.1511T>C (p.Phe504Ser)	BCAR3 (F180S +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222296	NM_003567.4(BCAR3):c.218T>A (p.Leu73His)	BCAR3 (L116H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212815	NM_003567.4(BCAR3):c.1469C>T (p.Ala490Val)	BCAR3 (A502V +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210231	NM_003567.4(BCAR3):c.1917T>A (p.Asp639Glu)	BCAR3 (D596E +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203915	NM_003567.4(BCAR3):c.1666G>A (p.Val556Ile)	BCAR3 (V599I +12 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 993827	NM_003567.4(BCAR3):c.2273G>A (p.Arg758Gln)	BCAR3 (R434Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 993628	NM_003567.4(BCAR3):c.1073G>A (p.Ser358Asn)	BCAR3 (S267N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 979885	GRCh37/hg19 1p22.1(chr1:94216477-94471075)x3	ABCA4, BCAR3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 814108	GRCh37/hg19 1p22.1-21.3(chr1:93863518-96108930)x1	ABCA4, ABCD3 +11 more	Copy number loss	not provided	GUncertain significance
Select item 784952	NM_003567.4(BCAR3):c.628G>A (p.Glu210Lys)	BCAR3 (E119K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 780250	NM_003567.4(BCAR3):c.2198A>G (p.Asn733Ser)	BCAR3 (N642S +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 771310	NM_003567.4(BCAR3):c.1934A>G (p.Tyr645Cys)	BCAR3 (Y645C +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 711277	NM_003567.4(BCAR3):c.1871C>T (p.Ala624Val)	BCAR3 (A533V +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 709801	NM_003567.4(BCAR3):c.1518G>A (p.Thr506=)	BCAR3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 565126	GRCh37/hg19 1p22.1(chr1:93986681-94575458)x3	ABCA4, BCAR3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LINC01708, LINC01709 +549 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 87