"Ambry Genetics"[submitter] AND "CHRFAM7A"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2391467	NM_139320.2(CHRFAM7A):c.1196C>T (p.Ser399Leu)	CHRFAM7A (S308L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2282877	NM_139320.2(CHRFAM7A):c.1084G>A (p.Glu362Lys)	CHRFAM7A (E362K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484311	NM_139320.2(CHRFAM7A):c.974C>T (p.Thr325Met)	CHRFAM7A (T234M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286136	NM_139320.2(CHRFAM7A):c.871A>G (p.Asn291Asp)	CHRFAM7A (N291D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302011	NM_139320.2(CHRFAM7A):c.575T>C (p.Ile192Thr)	CHRFAM7A (I101T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373344	NM_139320.2(CHRFAM7A):c.538C>T (p.Leu180Phe)	CHRFAM7A (L180F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294343	NM_139320.2(CHRFAM7A):c.536T>C (p.Leu179Ser)	CHRFAM7A (L179S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615554	NM_139320.2(CHRFAM7A):c.462C>G (p.Ile154Met)	CHRFAM7A (I154M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244333	NM_139320.2(CHRFAM7A):c.317G>C (p.Trp106Ser)	CHRFAM7A (W15S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance