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

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2372797	NM_145201.6(NAPRT):c.1529G>A (p.Arg510Gln)	NAPRT (R497Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466623	NM_145201.6(NAPRT):c.1508G>A (p.Arg503Gln)	NAPRT (R275Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2354303	NM_145201.6(NAPRT):c.1495C>A (p.Leu499Met)	NAPRT (L486M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206973	NM_145201.6(NAPRT):c.1454A>G (p.Glu485Gly)	NAPRT (E257G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347164	NM_145201.6(NAPRT):c.1393G>A (p.Val465Met)	NAPRT (V438M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535168	NM_145201.6(NAPRT):c.1307A>T (p.Asp436Val)	NAPRT (D208V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320790	NM_145201.6(NAPRT):c.1162C>G (p.Gln388Glu)	NAPRT (Q160E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2218625	NM_145201.6(NAPRT):c.1094G>A (p.Arg365Gln)	NAPRT (R137Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604405	NM_145201.6(NAPRT):c.1090G>A (p.Ala364Thr)	NAPRT (A364T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486557	NM_145201.6(NAPRT):c.1081G>A (p.Glu361Lys)	NAPRT (E133K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271061	NM_145201.6(NAPRT):c.983C>A (p.Ala328Asp)	NAPRT (A328D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380935	NM_145201.6(NAPRT):c.935A>G (p.Tyr312Cys)	NAPRT (Y84C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302850	NM_145201.6(NAPRT):c.896A>C (p.Asn299Thr)	NAPRT (N299T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388415	NM_145201.6(NAPRT):c.842G>T (p.Arg281Leu)	NAPRT (R281L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591164	NM_145201.6(NAPRT):c.806G>A (p.Arg269Gln)	NAPRT (R269Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347082	NM_145201.6(NAPRT):c.728C>T (p.Ala243Val)	NAPRT (A243V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228398	NM_145201.6(NAPRT):c.662G>A (p.Gly221Asp)	NAPRT (G221D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2406261	NM_145201.6(NAPRT):c.641C>A (p.Ser214Tyr)	NAPRT (S214Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2262028	NM_145201.6(NAPRT):c.608G>A (p.Arg203Gln)	NAPRT (R203Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2597294	NM_145201.6(NAPRT):c.574G>A (p.Asp192Asn)	NAPRT (D192N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2311935	NM_145201.6(NAPRT):c.515G>A (p.Arg172Gln)	NAPRT (R172Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2479482	NM_145201.6(NAPRT):c.475G>A (p.Ala159Thr)	NAPRT (A159T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2314924	NM_145201.6(NAPRT):c.467G>T (p.Arg156Leu)	NAPRT (R156L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2387301	NM_145201.6(NAPRT):c.466C>T (p.Arg156Cys)	NAPRT (R156C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2535564	NM_145201.6(NAPRT):c.383T>G (p.Leu128Arg)	NAPRT (L128R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2605261	NM_145201.6(NAPRT):c.379C>T (p.Pro127Ser)	NAPRT (P127S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2359632	NM_145201.6(NAPRT):c.256C>T (p.Pro86Ser)	NAPRT (P86S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2341921	NM_145201.6(NAPRT):c.242C>A (p.Ala81Asp)	NAPRT (A81D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2596871	NM_145201.6(NAPRT):c.194G>A (p.Arg65His)	NAPRT (R65H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2228151	NM_145201.6(NAPRT):c.181C>A (p.Arg61Ser)	NAPRT (R61S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2490583	NM_145201.6(NAPRT):c.158C>T (p.Ala53Val)	NAPRT (A53V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2481715	NM_145201.6(NAPRT):c.154G>C (p.Gly52Arg)	NAPRT (G52R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2534310	NM_145201.6(NAPRT):c.111C>G (p.Asp37Glu)	NAPRT (D37E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2534309	NM_145201.6(NAPRT):c.107G>A (p.Arg36Gln)	NAPRT (R36Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2478874	NM_145201.6(NAPRT):c.82G>A (p.Gly28Ser)	NAPRT (G28S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2251584	NM_145201.6(NAPRT):c.77C>T (p.Ala26Val)	NAPRT (A26V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2593937	NM_145201.6(NAPRT):c.67G>A (p.Ala23Thr)	NAPRT (A23T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2228807	NM_145201.6(NAPRT):c.44C>A (p.Pro15Gln)	NAPRT (P15Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2377406	NM_145201.6(NAPRT):c.38C>G (p.Ala13Gly)	NAPRT (A13G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 39