"Ambry Genetics"[submitter] AND "LOC130061638"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2354333	NM_014595.3(NT5C):c.139C>A (p.Arg47Ser)	LOC130061638, NT5C (R47S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2517534	NM_014595.3(NT5C):c.131T>C (p.Phe44Ser)	LOC130061638, NT5C (F44S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2328040	NM_014595.3(NT5C):c.115G>A (p.Glu39Lys)	LOC130061638, NT5C (E39K)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2547048	NM_014595.3(NT5C):c.82C>T (p.Arg28Cys)	LOC130061638, NT5C (R28C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2378717	NM_014595.3(NT5C):c.70C>T (p.Arg24Trp)	LOC130061638, NT5C (R24W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2362291	NM_014595.3(NT5C):c.62G>A (p.Gly21Asp)	LOC130061638, NT5C (G21D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2545094	NM_014595.3(NT5C):c.19G>C (p.Val7Leu)	LOC130061638, NT5C (V7L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2511548	NM_014595.3(NT5C):c.5C>T (p.Ala2Val)	LOC130061638, NT5C (A2V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance