"Ambry Genetics"[submitter] AND "CHN1"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2301721	NM_001822.7(CHN1):c.1121A>C (p.Glu374Ala)	CHN1 (E348A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2589764	NM_001822.7(CHN1):c.788A>G (p.Lys263Arg)	CHN1 (K263R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2258791	NM_001822.7(CHN1):c.784G>T (p.Val262Phe)	CHN1 (V236F +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2477403	NM_001822.7(CHN1):c.679T>C (p.Trp227Arg)	CHN1 (W201R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2552791	NM_001822.7(CHN1):c.620A>G (p.Asn207Ser)	CHN1 (N224S +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2376497	NM_001822.7(CHN1):c.589G>A (p.Glu197Lys)	CHN1 (E72K +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2520903	NM_001822.7(CHN1):c.554C>T (p.Thr185Ile)	CHN1 (T185I +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2512622	NM_001822.7(CHN1):c.535G>A (p.Val179Met)	CHN1 (V179M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295509	NM_001822.7(CHN1):c.377T>C (p.Ile126Thr)	CHN1 (I126T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568992	NM_001822.7(CHN1):c.295T>C (p.Tyr99His)	CHN1 (Y116H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467757	NM_001822.7(CHN1):c.178G>A (p.Asp60Asn)	CHN1, LOC126806410 (D77N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2552861	NM_001822.7(CHN1):c.127C>G (p.Pro43Ala)	CHN1 (P43A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance