"Ambry Genetics"[submitter] AND "NT5C3A"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2290736	NM_001002010.5(NT5C3A):c.971A>G (p.Asn324Ser)	NT5C3A (N278S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2070549	NM_001002010.5(NT5C3A):c.903G>C (p.Glu301Asp)	NT5C3A (E234D +4 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2515370	NM_001002010.5(NT5C3A):c.896T>C (p.Val299Ala)	NT5C3A (V232A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527115	NM_001002010.5(NT5C3A):c.835A>G (p.Met279Val)	NT5C3A (M212V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216502	NM_001002010.5(NT5C3A):c.653A>G (p.Asn218Ser)	NT5C3A (N151S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276185	NM_001002010.5(NT5C3A):c.592T>G (p.Ser198Ala)	NT5C3A (S131A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382084	NM_001002010.5(NT5C3A):c.543G>T (p.Glu181Asp)	NT5C3A (E114D +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2317712	NM_001002010.5(NT5C3A):c.452C>T (p.Ser151Leu)	NT5C3A (S151L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 811355	NM_001002010.5(NT5C3A):c.406A>G (p.Thr136Ala)	NT5C3A (T102A +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2593158	NM_001002010.5(NT5C3A):c.385A>G (p.Ile129Val)	NT5C3A (I129V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293306	NM_001002010.5(NT5C3A):c.382G>A (p.Ala128Thr)	NT5C3A (A61T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272324	NM_001002010.5(NT5C3A):c.350A>T (p.Lys117Ile)	NT5C3A (K84I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560547	NM_001002010.5(NT5C3A):c.257T>C (p.Met86Thr)	NT5C3A (M53T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202495	NM_001002010.5(NT5C3A):c.221G>A (p.Gly74Glu)	NT5C3A (G40E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411460	NM_001002010.5(NT5C3A):c.139-9035C>T	NT5C3A (A7V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2279439	NM_001002010.5(NT5C3A):c.137T>C (p.Met46Thr)	NT5C3A (M12T +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance