"Ambry Genetics"[submitter] AND "NUDT13"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2603698	NM_015901.6(NUDT13):c.203C>G (p.Ala68Gly)	NUDT13 (A68G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2376420	NM_015901.6(NUDT13):c.209G>A (p.Arg70Gln)	NUDT13 (R70Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2245681	NM_015901.6(NUDT13):c.238C>G (p.Leu80Val)	NUDT13 (L80V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2392666	NM_015901.6(NUDT13):c.268A>G (p.Ile90Val)	NUDT13 (I90V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2383908	NM_015901.6(NUDT13):c.352A>C (p.Ile118Leu)	NUDT13 (I118L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2343507	NM_015901.6(NUDT13):c.464C>T (p.Thr155Met)	NUDT13 (T155M +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2358422	NM_015901.6(NUDT13):c.481C>T (p.Arg161Cys)	NUDT13 (R161C +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2225594	NM_015901.6(NUDT13):c.484T>G (p.Trp162Gly)	NUDT13 (W162G +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2387362	NM_015901.6(NUDT13):c.502T>C (p.Phe168Leu)	NUDT13 (F168L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2272576	NM_015901.6(NUDT13):c.526A>C (p.Thr176Pro)	NUDT13 (T176P +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2369604	NM_015901.6(NUDT13):c.527C>T (p.Thr176Ile)	NUDT13 (T176I +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2274352	NM_015901.6(NUDT13):c.548G>A (p.Ser183Asn)	NUDT13 (S57N +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2210229	NM_015901.6(NUDT13):c.632G>A (p.Arg211Gln)	NUDT13 (R14Q +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2349176	NM_015901.6(NUDT13):c.641T>C (p.Leu214Pro)	NUDT13 (L88P +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2349671	NM_015901.6(NUDT13):c.671T>G (p.Met224Arg)	NUDT13 (M224R +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2226439	NM_015901.6(NUDT13):c.701T>C (p.Ile234Thr)	NUDT13 (I37T +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2261575	NM_015901.6(NUDT13):c.722C>G (p.Thr241Ser)	NUDT13 (P204A +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2397086	NM_015901.6(NUDT13):c.727C>T (p.Arg243Cys)	NUDT13 (R243C +2 more)	Single nucleotide variant (synonymous variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2204969	NM_015901.6(NUDT13):c.737T>C (p.Val246Ala)	NUDT13 (V49A +2 more)	Single nucleotide variant (synonymous variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2524005	NM_015901.6(NUDT13):c.875G>C (p.Arg292Thr)	NUDT13 (R166T +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2304300	NM_015901.6(NUDT13):c.876A>C (p.Arg292Ser)	NUDT13 (R203S +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2316279	NM_015901.6(NUDT13):c.1001C>T (p.Ser334Phe)	NUDT13 (S208F +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2338660	NM_015901.6(NUDT13):c.1035G>C (p.Gln345His)	NUDT13 (Q345H +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance

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Items: 23