"Ambry Genetics"[submitter] AND "ABCF2-H2BK1"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2482548	NM_007189.3(ABCF2):c.1752G>C (p.Trp584Cys)	ABCF2, ABCF2-H2BK1 +1 more (W584C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335975	NM_007189.3(ABCF2):c.1648G>A (p.Glu550Lys)	ABCF2, ABCF2-H2BK1 +1 more (E550K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623221	NM_007189.3(ABCF2):c.1555G>A (p.Asp519Asn)	ABCF2, ABCF2-H2BK1 +1 more (D519N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129409	NM_007189.3(ABCF2):c.1495A>C (p.Ile499Leu)	ABCF2, ABCF2-H2BK1 (I499L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484802	NM_007189.3(ABCF2):c.1197A>C (p.Gln399His)	ABCF2, ABCF2-H2BK1 (Q399H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619585	NM_007189.3(ABCF2):c.1119G>C (p.Glu373Asp)	ABCF2, ABCF2-H2BK1 (E373D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234568	NM_007189.3(ABCF2):c.1085C>T (p.Thr362Met)	ABCF2, ABCF2-H2BK1 (T362M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129424	NM_007189.3(ABCF2):c.920C>T (p.Thr307Met)	ABCF2, ABCF2-H2BK1 (T307M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507809	NM_007189.3(ABCF2):c.668G>A (p.Arg223His)	ABCF2, ABCF2-H2BK1 (R223H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384433	NM_007189.3(ABCF2):c.617T>C (p.Met206Thr)	ABCF2, ABCF2-H2BK1 (M206T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129415	NM_007189.3(ABCF2):c.604G>A (p.Asp202Asn)	ABCF2, ABCF2-H2BK1 (D202N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488102	NM_007189.3(ABCF2):c.311C>G (p.Thr104Ser)	ABCF2, ABCF2-H2BK1 (T104S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance