CBFA2T2[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 153447	GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3	ACSS2, ACTL10 +254 more	Copy number gain	See cases	GPathogenic
Select item 146117	GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)x1	AAR2, ACSS2 +214 more	Copy number loss	See cases	GPathogenic
Select item 2515532	NM_001032999.3(CBFA2T2):c.10G>A (p.Val4Ile)	CBFA2T2, LOC130065683 (V4I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137934	NM_001032999.3(CBFA2T2):c.35-32751C>T	CBFA2T2 (A2V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247608	NM_001032999.3(CBFA2T2):c.35-32739G>T	CBFA2T2 (G6V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372089	NM_001032999.3(CBFA2T2):c.35-32725G>A	CBFA2T2 (E11K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137935	NM_001032999.3(CBFA2T2):c.49A>G (p.Arg17Gly)	CBFA2T2 (R26G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250130	NM_001032999.3(CBFA2T2):c.158T>A (p.Val53Glu)	CBFA2T2 (V33E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263604	NM_001032999.3(CBFA2T2):c.167C>T (p.Thr56Ile)	CBFA2T2 (T36I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263600	NM_001032999.3(CBFA2T2):c.182G>A (p.Ser61Asn)	CBFA2T2 (S70N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619838	NM_001032999.3(CBFA2T2):c.194A>G (p.Asn65Ser)	CBFA2T2 (N45S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263602	NM_001032999.3(CBFA2T2):c.323G>A (p.Ser108Asn)	CBFA2T2 (S88N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263603	NM_001032999.3(CBFA2T2):c.398G>A (p.Arg133Gln)	CBFA2T2 (R133Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278139	NM_001032999.3(CBFA2T2):c.439G>A (p.Glu147Lys)	CBFA2T2 (E156K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367338	NM_001032999.3(CBFA2T2):c.557C>T (p.Ala186Val)	CBFA2T2 (A195V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457539	NM_001032999.3(CBFA2T2):c.564G>C (p.Lys188Asn)	CBFA2T2 (K188N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 744471	NM_001032999.3(CBFA2T2):c.693-6C>T	CBFA2T2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2400935	NM_001032999.3(CBFA2T2):c.724A>G (p.Ile242Val)	CBFA2T2 (I222V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3137936	NM_001032999.3(CBFA2T2):c.940A>C (p.Ser314Arg)	CBFA2T2 (S294R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278596	NM_001032999.3(CBFA2T2):c.970G>A (p.Glu324Lys)	CBFA2T2 (E304K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457956	NM_001032999.3(CBFA2T2):c.1034C>T (p.Ala345Val)	CBFA2T2 (A345V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289485	NM_001032999.3(CBFA2T2):c.1056G>A (p.Met352Ile)	CBFA2T2 (M332I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603052	NM_001032999.3(CBFA2T2):c.1073G>A (p.Arg358His)	CBFA2T2 (R338H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137930	NM_001032999.3(CBFA2T2):c.1093C>T (p.Arg365Cys)	CBFA2T2 (R365C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467580	NM_001032999.3(CBFA2T2):c.1094G>A (p.Arg365His)	CBFA2T2 (R365H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310583	NM_001032999.3(CBFA2T2):c.1234C>G (p.Gln412Glu)	CBFA2T2 (Q421E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137931	NM_001032999.3(CBFA2T2):c.1247A>G (p.Asn416Ser)	CBFA2T2 (N396S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2490284	NM_001032999.3(CBFA2T2):c.1381G>T (p.Val461Leu)	CBFA2T2 (V441L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024887	NM_001032999.3(CBFA2T2):c.1466A>G (p.Asn489Ser)	CBFA2T2 (N469S +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3263601	NM_001032999.3(CBFA2T2):c.1481C>T (p.Ser494Phe)	CBFA2T2 (S474F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243249	NM_001032999.3(CBFA2T2):c.1598T>G (p.Leu533Arg)	CBFA2T2 (L542R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137932	NM_001032999.3(CBFA2T2):c.1721C>A (p.Thr574Asn)	CBFA2T2 (T554N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262244	NM_001032999.3(CBFA2T2):c.1778A>G (p.Asn593Ser)	CBFA2T2 (N593S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248297	NC_000020.10:g.(?_31571600)_(33001705_?)del	ACTL10, AHCY +22 more	Deletion	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GPathogenic
Select item 3248260	NC_000020.10:g.(?_31368130)_(34287210_?)del	ACSS2, ACTL10 +51 more	Deletion	Glutathione synthetase deficiency with 5-oxoprolinuria	GPathogenic
Select item 1809278	GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3	AAR2, ACSS2 +98 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808687	GRCh37/hg19 20q11.21-11.23(chr20:29833535-34815537)x3	ACSS2, ACTL10 +86 more	Copy number gain	not provided	GLikely pathogenic
Select item 1526690	GRCh37/hg19 20p11.21-q11.22(chr20:25442597-33761550)	ACSS2, ACTL10 +71 more	Copy number gain	not specified	GPathogenic
Select item 1457888	NC_000020.10:g.(?_31189994)_(34287210_?)del	ACSS2, ACTL10 +53 more	Deletion	not provided	GPathogenic
Select item 1341087	GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3	ABHD12, ACSS1 +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 816125	GRCh37/hg19 20q11.21-11.22(chr20:31966407-33169058)x3	PIGU, E2F1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 689044	GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3	AAR2, ACSS2 +88 more	Copy number gain	not provided	GPathogenic
Select item 624485	GRCh37/hg19 20q11.21-11.22(chr20:32096800-32224564)x1	CBFA2T2	Copy number loss	not provided	GLikely benign
Select item 584348	NC_000020.10:g.(?_31996293)_(33338342_?)del	CBFA2T2, CHMP4B +17 more	Deletion	Long QT syndrome	GUncertain significance
Select item 583982	NC_000020.10:g.(?_31996293)_(33761838_?)del	ACSS2, ACTL10 +25 more	Deletion	Long QT syndrome	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic

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Items: 49