"Ambry Genetics"[submitter] AND "CBFA2T2"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2515532	NM_001032999.3(CBFA2T2):c.10G>A (p.Val4Ile)	CBFA2T2, LOC130065683 (V4I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247608	NM_001032999.3(CBFA2T2):c.35-32739G>T	CBFA2T2 (G6V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2372089	NM_001032999.3(CBFA2T2):c.35-32725G>A	CBFA2T2 (E11K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2250130	NM_001032999.3(CBFA2T2):c.158T>A (p.Val53Glu)	CBFA2T2 (V33E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619838	NM_001032999.3(CBFA2T2):c.194A>G (p.Asn65Ser)	CBFA2T2 (N45S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278139	NM_001032999.3(CBFA2T2):c.439G>A (p.Glu147Lys)	CBFA2T2 (E156K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367338	NM_001032999.3(CBFA2T2):c.557C>T (p.Ala186Val)	CBFA2T2 (A195V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457539	NM_001032999.3(CBFA2T2):c.564G>C (p.Lys188Asn)	CBFA2T2 (K188N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400935	NM_001032999.3(CBFA2T2):c.724A>G (p.Ile242Val)	CBFA2T2 (I222V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2278596	NM_001032999.3(CBFA2T2):c.970G>A (p.Glu324Lys)	CBFA2T2 (E304K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457956	NM_001032999.3(CBFA2T2):c.1034C>T (p.Ala345Val)	CBFA2T2 (A345V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289485	NM_001032999.3(CBFA2T2):c.1056G>A (p.Met352Ile)	CBFA2T2 (M332I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603052	NM_001032999.3(CBFA2T2):c.1073G>A (p.Arg358His)	CBFA2T2 (R338H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467580	NM_001032999.3(CBFA2T2):c.1094G>A (p.Arg365His)	CBFA2T2 (R365H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310583	NM_001032999.3(CBFA2T2):c.1234C>G (p.Gln412Glu)	CBFA2T2 (Q421E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490284	NM_001032999.3(CBFA2T2):c.1381G>T (p.Val461Leu)	CBFA2T2 (V441L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243249	NM_001032999.3(CBFA2T2):c.1598T>G (p.Leu533Arg)	CBFA2T2 (L542R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262244	NM_001032999.3(CBFA2T2):c.1778A>G (p.Asn593Ser)	CBFA2T2 (N593S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance