BCAT1[gene] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 146283	GRCh38/hg38 12p12.3-12.1(chr12:19265334-25482589)x1	ABCC9, AEBP2 +133 more	Copy number loss	See cases	GLikely pathogenic
Select item 58988	GRCh38/hg38 12p12.3-11.23(chr12:19295848-27012560)x1	ABCC9, AEBP2 +179 more	Copy number loss	See cases	GPathogenic
Select item 155248	GRCh38/hg38 12p12.1(chr12:24552217-25193743)x3	BCAT1, DNAI7 +23 more	Copy number gain	See cases	GUncertain significance
Select item 160781	GRCh38/hg38 12p12.1(chr12:24638349-25193743)x3	BCAT1, DNAI7 +21 more	Copy number gain	See cases	GUncertain significance
Select item 146060	GRCh38/hg38 12p12.1(chr12:24784088-25101275)x3	BCAT1, IRAG2 +18 more	Copy number gain	See cases	GUncertain significance
Select item 3055911	NM_005504.7(BCAT1):c.1137C>T (p.Ser379=)	BCAT1	Single nucleotide variant (synonymous variant +2 more)	BCAT1-related disorder	GBenign
Select item 3042288	NM_005504.7(BCAT1):c.1122T>C (p.Tyr374=)	BCAT1	Single nucleotide variant (synonymous variant +2 more)	BCAT1-related disorder	GLikely benign
Select item 2513534	NM_005504.7(BCAT1):c.1090C>T (p.Arg364Cys)	BCAT1 (R286C +22 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133340	NM_005504.7(BCAT1):c.1089C>A (p.Ser363Arg)	BCAT1 (S286R +22 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205780	NM_005504.7(BCAT1):c.1066G>A (p.Glu356Lys)	BCAT1 (E295K +22 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033269	NM_005504.7(BCAT1):c.1042G>A (p.Glu348Lys)	BCAT1 (E270K +19 more)	Single nucleotide variant (missense variant +2 more)	BCAT1-related disorder	GLikely benign
Select item 3047543	NM_005504.7(BCAT1):c.1032G>A (p.Leu344=)	BCAT1	Single nucleotide variant (synonymous variant +2 more)	BCAT1-related disorder	GLikely benign
Select item 757514	NM_005504.7(BCAT1):c.963G>A (p.Glu321=)	BCAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2331377	NM_005504.7(BCAT1):c.892G>A (p.Ala298Thr)	BCAT1 (A221T +19 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469917	NM_005504.7(BCAT1):c.851T>A (p.Ile284Asn)	BCAT1 (I207N +19 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352276	NM_005504.7(BCAT1):c.792T>A (p.Phe264Leu)	BCAT1 (F208L +17 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133344	NM_005504.7(BCAT1):c.680A>G (p.Tyr227Cys)	BCAT1 (Y186C +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352408	NM_005504.7(BCAT1):c.656G>C (p.Gly219Ala)	BCAT1 (G141A +17 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458293	NM_005504.7(BCAT1):c.547C>T (p.Leu183Phe)	BCAT1 (L105F +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308787	NM_005504.7(BCAT1):c.493A>G (p.Thr165Ala)	BCAT1 (T109A +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133343	NM_005504.7(BCAT1):c.437A>C (p.Lys146Thr)	BCAT1 (K109T +10 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2233402	NM_005504.7(BCAT1):c.406G>A (p.Glu136Lys)	BCAT1 (E151K +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595770	NM_005504.7(BCAT1):c.382A>G (p.Thr128Ala)	BCAT1 (T140A +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3133342	NM_005504.7(BCAT1):c.364C>T (p.Arg122Cys)	BCAT1 (R134C +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3133341	NM_005504.7(BCAT1):c.182A>C (p.Glu61Ala)	BCAT1 (E47A +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3059560	NM_005504.7(BCAT1):c.176C>T (p.Thr59Met)	BCAT1 (T35M +7 more)	Single nucleotide variant (missense variant +1 more)	BCAT1-related disorder	GLikely benign
Select item 2352104	NM_005504.7(BCAT1):c.164A>G (p.Asp55Gly)	BCAT1 (D54G +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518811	NM_005504.7(BCAT1):c.79G>A (p.Ala27Thr)	BCAT1 (A26T +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 750233	NM_005504.7(BCAT1):c.57A>G (p.Lys19=)	BCAT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 718749	NM_005504.7(BCAT1):c.39C>T (p.Thr13=)	BCAT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3059033	NM_005504.7(BCAT1):c.7-72C>T	BCAT1	Single nucleotide variant (intron variant)	BCAT1-related disorder	GBenign
Select item 2612338	NM_005504.7(BCAT1):c.7-1070G>A	BCAT1 (A12T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2318950	NM_005504.7(BCAT1):c.7-1075C>T	BCAT1 (A10V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318949	NM_005504.7(BCAT1):c.7-1078C>T	BCAT1 (A9V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	AKAP3, ETFRF1 +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 1527698	GRCh37/hg19 12p12.1(chr12:24686645-25353987)	BCAT1, DNAI7 +4 more	Copy number gain	not specified	GUncertain significance
Select item 1527688	GRCh37/hg19 12p12.3-11.23(chr12:17884992-26704895)	ABCC9, AEBP2 +35 more	Copy number gain	not specified	GPathogenic
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1527669	GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	A2ML1, ABCC9 +235 more	Copy number gain	not specified	GPathogenic
Select item 1340043	GRCh37/hg19 12p12.1-11.22(chr12:23693737-29545102)x1	BCAT1, BHLHE41 +27 more	Copy number loss	not provided	GPathogenic
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 695073	GRCh37/hg19 12p12.1(chr12:23457173-25177321)x1	BCAT1, LINC02909 +1 more	Copy number loss	Lamb-Shaffer syndrome	GPathogenic
Select item 689186	GRCh37/hg19 12p12.1(chr12:24692382-25353945)x3	BCAT1, DNAI7 +4 more	Copy number gain	not provided	GUncertain significance
Select item 689124	GRCh37/hg19 12p12.3-11.23(chr12:16141429-27733325)x1	SMCO2, SOX5 +48 more	Copy number loss	not provided	GPathogenic
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 666436	GRCh37/hg19 12p12.1(chr12:22602778-25225668)x1	LINC02909, ETNK1 +4 more	Copy number loss	Lamb-Shaffer syndrome	GPathogenic
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 493605	GRCh37/hg19 12p12.1(chr12:24970786-25307280)x3	BCAT1, DNAI7 +2 more	Copy number gain	not provided	GLikely benign
Select item 443532	GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3	A2M, A2ML1 +256 more	Copy number gain	See cases	GPathogenic
Select item 442329	GRCh37/hg19 12p12.1(chr12:24687132-25353987)x3	ETFRF1, IRAG2 +4 more	Copy number gain	See cases	GLikely benign
Select item 442150	GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	KCNA6, KCNJ8 +273 more	Copy number gain	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 395235	GRCh37/hg19 12p12.3-11.23(chr12:18037107-26681362)x3	ABCC9, AEBP2 +35 more	Copy number gain	See cases	GPathogenic
Select item 395063	GRCh37/hg19 12p12.1(chr12:24965813-25225609)x3	BCAT1, IRAG2 +1 more	Copy number gain	See cases	GBenign
Select item 394879	GRCh37/hg19 12p12.1(chr12:25097583-25225609)x3	BCAT1, IRAG2 +1 more	Copy number gain	See cases	GBenign
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic

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Items: 73