BCAT2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	LOC130064822, LOC130064823 +290 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 146386	GRCh38/hg38 19q13.33(chr19:48577651-48839042)x3	BCAT2, CA11 +45 more	Copy number gain	See cases	GUncertain significance
Select item 2802005	NM_001190.4(BCAT2):c.1169T>A (p.Phe390Tyr)	BCAT2, LOC130064882 (F298Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2419240	NM_001190.4(BCAT2):c.1147A>G (p.Ile383Val)	BCAT2, LOC130064882 (I291V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2068450	NM_001190.4(BCAT2):c.1147A>T (p.Ile383Phe)	BCAT2, LOC130064882 (I343F +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1900632	NM_001190.4(BCAT2):c.1141-7T>G	BCAT2, LOC130064882	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1925556	NM_001190.4(BCAT2):c.1140+5G>A	BCAT2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2009157	NM_001190.4(BCAT2):c.1126C>T (p.Leu376=)	BCAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1637906	NM_001190.4(BCAT2):c.1120A>G (p.Lys374Glu)	BCAT2 (K282E +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2075058	NM_001190.4(BCAT2):c.1112G>A (p.Arg371His)	BCAT2 (R331H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2182022	NM_001190.4(BCAT2):c.1066-5C>A	BCAT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2976968	NM_001190.4(BCAT2):c.1066-13C>A	BCAT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1663829	NM_001190.4(BCAT2):c.1066-16G>A	BCAT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1900007	NM_001190.4(BCAT2):c.1066-17C>T	BCAT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1666580	NM_001190.4(BCAT2):c.1065+8G>A	BCAT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2740561	NM_001190.4(BCAT2):c.1032C>T (p.Val344=)	BCAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1989444	NM_001190.4(BCAT2):c.1029G>A (p.Gln343=)	BCAT2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1918210	NM_001190.4(BCAT2):c.1021G>A (p.Ala341Thr)	BCAT2 (A249T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1917247	NM_001190.4(BCAT2):c.1014G>A (p.Ser338=)	BCAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2060348	NM_001190.4(BCAT2):c.1010G>C (p.Gly337Ala)	BCAT2 (G297A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2893993	NM_001190.4(BCAT2):c.1009G>A (p.Gly337Ser)	BCAT2 (G245S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3133347	NM_001190.4(BCAT2):c.998G>A (p.Arg333Gln)	BCAT2 (R293Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2176805	NM_001190.4(BCAT2):c.997C>G (p.Arg333Gly)	BCAT2 (R333G +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 730073	NM_001190.4(BCAT2):c.997C>T (p.Arg333Trp)	BCAT2 (R241W +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3133346	NM_001190.4(BCAT2):c.992G>C (p.Arg331Pro)	BCAT2 (R239P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1477310	NM_001190.4(BCAT2):c.973C>T (p.Arg325Trp)	BCAT2 (R233W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175705	NM_001190.4(BCAT2):c.956C>G (p.Thr319Ser)	BCAT2 (T227S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1985651	NM_001190.4(BCAT2):c.953T>C (p.Ile318Thr)	BCAT2 (I226T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 719117	NM_001190.4(BCAT2):c.939G>T (p.Val313=)	BCAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1911116	NM_001190.4(BCAT2):c.934C>T (p.Arg312Trp)	BCAT2 (R312W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2039031	NM_001190.4(BCAT2):c.924+8C>T	BCAT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3260615	NM_001190.4(BCAT2):c.913G>A (p.Ala305Thr)	BCAT2 (A265T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2898513	NM_001190.4(BCAT2):c.898_899del (p.Leu301fs)	BCAT2 (L209fs +2 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2067378	NM_001190.4(BCAT2):c.889G>A (p.Val297Ile)	BCAT2 (V257I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1906526	NM_001190.4(BCAT2):c.871G>A (p.Val291Ile)	BCAT2 (V199I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2112204	NM_001190.4(BCAT2):c.864G>A (p.Leu288=)	BCAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1930895	NM_001190.4(BCAT2):c.860C>T (p.Pro287Leu)	BCAT2 (P195L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1376168	NM_001190.4(BCAT2):c.839-12C>G	BCAT2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1541935	NM_001190.4(BCAT2):c.838+17C>T	BCAT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2520207	NM_001190.4(BCAT2):c.829G>A (p.Glu277Lys)	BCAT2 (E277K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 869185	NM_001190.4(BCAT2):c.790G>A (p.Glu264Lys)	BCAT2 (E172K +1 more)	Single nucleotide variant (missense variant)	Hypervalinemia and hyperleucine-isoleucinemia	GPathogenic
Select item 785631	NM_001190.4(BCAT2):c.786C>T (p.Leu262=)	BCAT2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2039684	NM_001190.4(BCAT2):c.775G>A (p.Asp259Asn)	BCAT2 (D167N +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1989034	NM_001190.4(BCAT2):c.774C>T (p.Pro258=)	BCAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2184810	NM_001190.4(BCAT2):c.765G>T (p.Leu255=)	BCAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2160215	NM_001190.4(BCAT2):c.762G>C (p.Trp254Cys)	BCAT2 (W162C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2377461	NM_001190.4(BCAT2):c.739C>T (p.Arg247Trp)	BCAT2 (R155W +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 808610	NM_001190.4(BCAT2):c.712G>A (p.Val238Met)	BCAT2 (V198M +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2730562	NM_001190.4(BCAT2):c.696-2A>G	BCAT2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 758883	NM_001190.4(BCAT2):c.696-10C>T	BCAT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1665291	NM_001190.4(BCAT2):c.696-15A>G	BCAT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1346084	NM_001190.4(BCAT2):c.695+4A>G	BCAT2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 732830	NM_001190.4(BCAT2):c.644C>G (p.Pro215Arg)	BCAT2 (P175R +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1910479	NM_001190.4(BCAT2):c.631C>G (p.Leu211Val)	BCAT2 (L119V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2055200	NM_001190.4(BCAT2):c.624G>A (p.Pro208=)	BCAT2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1483893	NM_001190.4(BCAT2):c.622C>T (p.Pro208Ser)	BCAT2 (P168S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870532	NM_001190.4(BCAT2):c.616G>A (p.Val206Met)	BCAT2 (V114M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3260614	NM_001190.4(BCAT2):c.605C>T (p.Pro202Leu)	BCAT2 (P162L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1980342	NM_001190.4(BCAT2):c.600C>A (p.Tyr200Ter)	BCAT2 (Y108* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1908794	NM_001190.4(BCAT2):c.562G>A (p.Ala188Thr)	BCAT2 (A148T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1601520	NM_001190.4(BCAT2):c.557C>G (p.Thr186Arg)	BCAT2 (T146R +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3338118	NM_001190.4(BCAT2):c.545T>G (p.Val182Gly)	BCAT2 (V142G +1 more)	Single nucleotide variant (missense variant)	Hypervalinemia and hyperleucine-isoleucinemia	GPathogenic
Select item 1687093	NM_001190.4(BCAT2):c.531+1G>A	BCAT2	Single nucleotide variant (splice donor variant)	not provided	Gnot provided
Select item 2103492	NM_001190.4(BCAT2):c.529G>A (p.Glu177Lys)	BCAT2 (E177K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1901161	NM_001190.4(BCAT2):c.528C>T (p.Asn176=)	BCAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1386642	NM_001190.4(BCAT2):c.515T>C (p.Val172Ala)	BCAT2 (V132A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1552373	NM_001190.4(BCAT2):c.513T>C (p.Pro171=)	BCAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 869184	NM_001190.4(BCAT2):c.509G>A (p.Arg170Gln)	BCAT2 (R170Q +2 more)	Single nucleotide variant (missense variant)	Hypervalinemia and hyperleucine-isoleucinemia	GPathogenic
Select item 2176310	NM_001190.4(BCAT2):c.499C>A (p.Leu167Ile)	BCAT2 (L167I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1176713	NM_001190.4(BCAT2):c.489C>A (p.Ala163=)	BCAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2048518	NM_001190.4(BCAT2):c.486C>T (p.Ala162=)	BCAT2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1909635	NM_001190.4(BCAT2):c.456C>A (p.Ile152=)	BCAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3364732	NM_001190.4(BCAT2):c.416dup (p.Asp140fs)	BCAT2 (D100fs +2 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2174406	NM_001190.4(BCAT2):c.417C>A (p.Phe139Leu)	BCAT2 (F47L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1990189	NM_001190.4(BCAT2):c.412-14A>G	BCAT2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2018139	NM_001190.4(BCAT2):c.411+8dup	BCAT2	Duplication (intron variant)	not provided	GBenign
Select item 1436171	NM_001190.4(BCAT2):c.411+5G>C	BCAT2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2875205	NM_001190.4(BCAT2):c.408G>A (p.Leu136=)	BCAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2859298	NM_001190.4(BCAT2):c.399C>T (p.Arg133=)	BCAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1388125	NM_001190.4(BCAT2):c.334G>A (p.Asp112Asn)	BCAT2 (D72N +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2963844	NM_001190.4(BCAT2):c.301-12G>A	BCAT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1637679	NM_001190.4(BCAT2):c.300+18C>T	BCAT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1909185	NM_001190.4(BCAT2):c.300+15G>A	BCAT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1901008	NM_001190.4(BCAT2):c.300+14C>T	BCAT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3023015	NM_001190.4(BCAT2):c.300+11G>A	BCAT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 777503	NM_001190.4(BCAT2):c.298C>G (p.Gln100Glu)	BCAT2 (Q100E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2371485	NM_001190.4(BCAT2):c.283C>T (p.Leu95Phe)	BCAT2 (L95F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1596056	NM_001190.4(BCAT2):c.262C>T (p.Leu88=)	BCAT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3133345	NM_001190.4(BCAT2):c.260C>G (p.Thr87Arg)	BCAT2 (T47R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387821	NM_001190.4(BCAT2):c.260C>T (p.Thr87Met)	BCAT2 (T47M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2039080	NM_001190.4(BCAT2):c.232C>T (p.Pro78Ser)	BCAT2 (P38S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1520267	NM_001190.4(BCAT2):c.220G>A (p.Gly74Ser)	BCAT2 (G74S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1405630	NM_001190.4(BCAT2):c.217A>G (p.Lys73Glu)	BCAT2 (K73E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2507843	NM_001190.4(BCAT2):c.201G>T (p.Met67Ile)	BCAT2 (M67I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2761604	NM_001190.4(BCAT2):c.198G>A (p.Leu66=)	BCAT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1442290	NM_001190.4(BCAT2):c.187G>A (p.Asp63Asn)	BCAT2 (D63N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2413533	NM_001190.4(BCAT2):c.186C>T (p.Thr62=)	BCAT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1961478	NM_001190.4(BCAT2):c.176A>G (p.Lys59Arg)	BCAT2 (K59R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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