NAGPA[gene] and "single gene"[properties] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3041527	NM_016256.4(NAGPA):c.1319G>C (p.Gly440Ala)	NAGPA (G440A)	Single nucleotide variant (missense variant)	NAGPA-related disorder	GLikely benign
Select item 2306194	NM_016256.4(NAGPA):c.1294C>A (p.Pro432Thr)	NAGPA (P432T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613605	NM_016256.4(NAGPA):c.1289T>C (p.Leu430Pro)	NAGPA (L430P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386198	NM_016256.4(NAGPA):c.1267G>A (p.Val423Ile)	NAGPA (V423I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3035626	NM_016256.4(NAGPA):c.1266C>T (p.Ser422=)	NAGPA	Single nucleotide variant (synonymous variant)	NAGPA-related disorder	GLikely benign
Select item 707823	NM_016256.4(NAGPA):c.1203C>G (p.Gly401=)	NAGPA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3173791	NM_016256.4(NAGPA):c.1180C>T (p.Pro394Ser)	NAGPA (P394S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 260703	NM_016256.4(NAGPA):c.1175-36TCCTCCC[2]	NAGPA	Microsatellite (intron variant)	not specified	GLikely benign
Select item 2646174	NM_016256.4(NAGPA):c.1146C>T (p.Ala382=)	NAGPA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2604186	NM_016256.4(NAGPA):c.1123G>A (p.Glu375Lys)	NAGPA (E375K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784621	NM_016256.4(NAGPA):c.1122G>A (p.Thr374=)	NAGPA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2480452	NM_016256.4(NAGPA):c.1063C>G (p.Pro355Ala)	NAGPA (P355A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2349796	NM_016256.4(NAGPA):c.1045G>A (p.Gly349Arg)	NAGPA (G349R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533652	NM_016256.4(NAGPA):c.1030C>A (p.His344Asn)	NAGPA (H344N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173776	NM_016256.4(NAGPA):c.1027G>A (p.Gly343Arg)	NAGPA (G343R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255819	NM_016256.4(NAGPA):c.1021G>C (p.Val341Leu)	NAGPA (V341L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209523	NM_016256.4(NAGPA):c.1000T>C (p.Cys334Arg)	NAGPA (C334R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292237	NM_016256.4(NAGPA):c.992C>T (p.Pro331Leu)	NAGPA (P331L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 30694	NM_016256.4(NAGPA):c.982C>T (p.Arg328Cys)	NAGPA (R328C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2231698	NM_016256.4(NAGPA):c.925G>A (p.Asp309Asn)	NAGPA (D309N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378861	NM_016256.4(NAGPA):c.740G>A (p.Arg247Gln)	NAGPA (R247Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173861	NM_016256.4(NAGPA):c.738C>A (p.Asp246Glu)	NAGPA (D246E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173858	NM_016256.4(NAGPA):c.737A>G (p.Asp246Gly)	NAGPA (D246G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515998	NM_016256.4(NAGPA):c.710T>A (p.Ile237Lys)	NAGPA (I237K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 260707	NM_016256.4(NAGPA):c.683-29G>A	NAGPA	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 793358	NM_016256.4(NAGPA):c.678G>A (p.Glu226=)	NAGPA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3039187	NM_016256.4(NAGPA):c.641A>G (p.Asn214Ser)	NAGPA (N214S)	Single nucleotide variant (missense variant)	NAGPA-related disorder	GLikely benign
Select item 3173853	NM_016256.4(NAGPA):c.620G>A (p.Arg207His)	NAGPA (R207H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298388	NM_016256.4(NAGPA):c.607G>A (p.Val203Met)	NAGPA (V203M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298390	NM_016256.4(NAGPA):c.602G>C (p.Gly201Ala)	NAGPA (G201A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052559	NM_016256.4(NAGPA):c.549G>A (p.Leu183=)	NAGPA	Single nucleotide variant (synonymous variant)	NAGPA-related disorder	GLikely benign
Select item 2485334	NM_016256.4(NAGPA):c.527G>C (p.Gly176Ala)	NAGPA (G176A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298391	NM_016256.4(NAGPA):c.487G>A (p.Gly163Arg)	NAGPA (G163R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366349	NM_016256.4(NAGPA):c.455T>C (p.Val152Ala)	NAGPA (V152A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214654	NM_016256.4(NAGPA):c.416G>T (p.Gly139Val)	NAGPA (G139V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173842	NM_016256.4(NAGPA):c.397C>A (p.Arg133Ser)	NAGPA (R133S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255640	NM_016256.4(NAGPA):c.386C>G (p.Ala129Gly)	NAGPA (A129G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781183	NM_016256.4(NAGPA):c.381G>T (p.Ala127=)	NAGPA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2291529	NM_016256.4(NAGPA):c.361G>A (p.Ala121Thr)	NAGPA (A121T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 260706	NM_016256.4(NAGPA):c.333A>G (p.Gly111=)	NAGPA	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2543750	NM_016256.4(NAGPA):c.304C>A (p.Arg102Ser)	NAGPA (R102S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405651	NM_016256.4(NAGPA):c.286C>T (p.Arg96Trp)	NAGPA (R96W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349752	NM_016256.4(NAGPA):c.258G>C (p.Arg86Ser)	NAGPA (R86S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 30693	NM_016256.4(NAGPA):c.252C>G (p.His84Gln)	NAGPA (H84Q)	Single nucleotide variant (missense variant)	Stuttering, familial persistent, 2	GUncertain significance
Select item 2284486	NM_016256.4(NAGPA):c.248C>T (p.Ser83Leu)	NAGPA (S83L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722990	NM_016256.4(NAGPA):c.236G>A (p.Arg79His)	NAGPA (R79H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2386577	NM_016256.4(NAGPA):c.211C>A (p.Pro71Thr)	NAGPA (P71T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356515	NM_016256.4(NAGPA):c.205G>T (p.Ala69Ser)	NAGPA (A69S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268860	NM_016256.4(NAGPA):c.199C>A (p.Pro67Thr)	NAGPA (P67T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614827	NM_016256.4(NAGPA):c.188G>C (p.Ser63Thr)	NAGPA (S63T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322437	NM_016256.4(NAGPA):c.184G>A (p.Glu62Lys)	NAGPA (E62K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047748	NM_016256.4(NAGPA):c.180G>A (p.Glu60=)	NAGPA	Single nucleotide variant (synonymous variant)	NAGPA-related disorder	GLikely benign
Select item 3053239	NM_016256.4(NAGPA):c.174C>T (p.Asn58=)	NAGPA	Single nucleotide variant (synonymous variant)	NAGPA-related disorder	GLikely benign
Select item 3173816	NM_016256.4(NAGPA):c.154A>C (p.Thr52Pro)	NAGPA (T52P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044542	NM_016256.4(NAGPA):c.139C>T (p.Leu47Phe)	NAGPA (L47F)	Single nucleotide variant (missense variant)	NAGPA-related disorder	GLikely benign
Select item 3173796	NM_016256.4(NAGPA):c.128C>T (p.Ala43Val)	NAGPA (A43V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 56