"Ambry Genetics"[submitter] AND "CNIH3"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2248358	NM_152495.2(CNIH3):c.16G>A (p.Ala6Thr)	CNIH3 (A6T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2400408	NM_152495.2(CNIH3):c.68T>G (p.Phe23Cys)	CNIH3 (F23C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2518609	NM_152495.2(CNIH3):c.104G>C (p.Arg35Thr)	CNIH3 (R63T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2261398	NM_152495.2(CNIH3):c.142G>A (p.Val48Ile)	CNIH3 (V30I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2243618	NM_152495.2(CNIH3):c.149C>A (p.Ala50Glu)	CNIH3 (A32E +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2550600	NM_152495.2(CNIH3):c.162G>C (p.Leu54Phe)	CNIH3 (L36F +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2508327	NM_152495.2(CNIH3):c.176G>A (p.Arg59His)	CNIH3 (R41H +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2472981	NM_152495.2(CNIH3):c.376G>A (p.Asp126Asn)	CNIH3 (D110N +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance