"Ambry Genetics"[submitter] AND "NTAN1"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2331349	NM_173474.4(NTAN1):c.905G>C (p.Trp302Ser)	NTAN1, PDXDC1 (W197S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2528177	NM_173474.4(NTAN1):c.811A>G (p.Thr271Ala)	NTAN1, PDXDC1 (T166A +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2403516	NM_173474.4(NTAN1):c.767C>T (p.Ser256Leu)	NTAN1, PDXDC1 (S256L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2366762	NM_173474.4(NTAN1):c.677G>A (p.Arg226His)	NTAN1, PDXDC1 (R121H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2353728	NM_173474.4(NTAN1):c.659C>T (p.Ala220Val)	NTAN1, PDXDC1 (A220V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2288325	NM_173474.4(NTAN1):c.638C>G (p.Pro213Arg)	PDXDC1, NTAN1 (P108R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2260312	NM_173474.4(NTAN1):c.498C>G (p.Asp166Glu)	PDXDC1, NTAN1 (D61E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2378209	NM_173474.4(NTAN1):c.326T>C (p.Ile109Thr)	NTAN1, PDXDC1 (I4T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2555854	NM_173474.4(NTAN1):c.232G>A (p.Val78Met)	NTAN1, PDXDC1 (V78M)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance