NAGPA[gene] - ClinVar

Search results

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	LOC112340388, LOC112441449 +821 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	OR1F1, OR2C1 +916 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	RMI2, RNF151 +842 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	LOC130058340, LOC130058341 +925 more	Copy number gain	See cases	GPathogenic
Select item 59428	GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1	ADCY9, ALG1 +262 more	Copy number loss	See cases	GPathogenic
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +851 more	Copy number gain	See cases	GPathogenic
Select item 146375	GRCh38/hg38 16p13.3(chr16:4926922-5824683)x3	ALG1, C16orf89 +29 more	Copy number gain	See cases	GLikely benign
Select item 30695	NM_016256.4(NAGPA):c.1538_*5del (p.Phe513fs)	LOC125146393, NAGPA (F513fs)	Deletion (frameshift variant)	Variant of unknown significance	GUncertain significance
Select item 2357036	NM_016256.4(NAGPA):c.1543G>T (p.Asp515Tyr)	LOC125146393, NAGPA (D515Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3058101	NM_016256.4(NAGPA):c.1533C>T (p.Asn511=)	LOC125146393, NAGPA	Single nucleotide variant (synonymous variant)	NAGPA-related condition	GLikely benign
Select item 2591588	NM_016256.4(NAGPA):c.1513C>A (p.Gln505Lys)	LOC125146393, NAGPA (Q505K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3056966	NM_016256.4(NAGPA):c.1501G>A (p.Ala501Thr)	LOC125146393, NAGPA (A501T)	Single nucleotide variant (missense variant)	NAGPA-related condition	GBenign
Select item 2288881	NM_016256.4(NAGPA):c.1490A>C (p.Glu497Ala)	LOC125146393, NAGPA (E497A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 260705	NM_016256.4(NAGPA):c.1485C>T (p.Asn495=)	LOC125146393, NAGPA	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 3035756	NM_016256.4(NAGPA):c.1476G>A (p.Gln492=)	LOC125146393, NAGPA	Single nucleotide variant (synonymous variant)	NAGPA-related condition	GLikely benign
Select item 2293704	NM_016256.4(NAGPA):c.1457A>C (p.Tyr486Ser)	LOC125146393, NAGPA (Y486S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464074	NM_016256.4(NAGPA):c.1439G>A (p.Arg480Gln)	LOC125146393, NAGPA (R480Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545989	NM_016256.4(NAGPA):c.1429G>A (p.Glu477Lys)	LOC125146393, NAGPA (E477K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 260704	NM_016256.4(NAGPA):c.1394C>T (p.Thr465Ile)	LOC125146393, NAGPA (T465I)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 3041527	NM_016256.4(NAGPA):c.1319G>C (p.Gly440Ala)	NAGPA (G440A)	Single nucleotide variant (missense variant)	NAGPA-related condition	GLikely benign
Select item 2306194	NM_016256.4(NAGPA):c.1294C>A (p.Pro432Thr)	NAGPA (P432T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613605	NM_016256.4(NAGPA):c.1289T>C (p.Leu430Pro)	NAGPA (L430P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386198	NM_016256.4(NAGPA):c.1267G>A (p.Val423Ile)	NAGPA (V423I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3035626	NM_016256.4(NAGPA):c.1266C>T (p.Ser422=)	NAGPA	Single nucleotide variant (synonymous variant)	NAGPA-related condition	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 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)	Inborn genetic diseases	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)	Inborn genetic diseases	GLikely benign
Select item 2349796	NM_016256.4(NAGPA):c.1045G>A (p.Gly349Arg)	NAGPA (G349R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533652	NM_016256.4(NAGPA):c.1030C>A (p.His344Asn)	NAGPA (H344N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255819	NM_016256.4(NAGPA):c.1021G>C (p.Val341Leu)	NAGPA (V341L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209523	NM_016256.4(NAGPA):c.1000T>C (p.Cys334Arg)	NAGPA (C334R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292237	NM_016256.4(NAGPA):c.992C>T (p.Pro331Leu)	NAGPA (P331L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 30694	NM_016256.4(NAGPA):c.982C>T (p.Arg328Cys)	NAGPA (R328C)	Single nucleotide variant (missense variant)	Stuttering, familial persistent, 2	GUncertain significance
Select item 2231698	NM_016256.4(NAGPA):c.925G>A (p.Asp309Asn)	NAGPA (D309N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 260708	NM_016256.4(NAGPA):c.920+40A>G	LOC126862268, NAGPA	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 155214	GRCh38/hg38 16p13.3(chr16:5028859-5255498)x1	ALG1, C16orf89 +16 more	Copy number loss	See cases	GUncertain significance
Select item 2532069	NM_016256.4(NAGPA):c.914A>G (p.Asp305Gly)	LOC126862268, NAGPA (D305G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319723	NM_016256.4(NAGPA):c.838G>C (p.Val280Leu)	LOC126862268, NAGPA (V280L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3049011	NM_016256.4(NAGPA):c.813G>A (p.Ala271=)	LOC126862268, NAGPA	Single nucleotide variant (synonymous variant)	NAGPA-related condition	GLikely benign
Select item 2408506	NM_016256.4(NAGPA):c.812C>T (p.Ala271Val)	LOC126862268, NAGPA (A271V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378861	NM_016256.4(NAGPA):c.740G>A (p.Arg247Gln)	NAGPA (R247Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515998	NM_016256.4(NAGPA):c.710T>A (p.Ile237Lys)	NAGPA (I237K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 condition	GLikely benign
Select item 3052559	NM_016256.4(NAGPA):c.549G>A (p.Leu183=)	NAGPA	Single nucleotide variant (synonymous variant)	NAGPA-related condition	GLikely benign
Select item 2485334	NM_016256.4(NAGPA):c.527G>C (p.Gly176Ala)	NAGPA (G176A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366349	NM_016256.4(NAGPA):c.455T>C (p.Val152Ala)	NAGPA (V152A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214654	NM_016256.4(NAGPA):c.416G>T (p.Gly139Val)	NAGPA (G139V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255640	NM_016256.4(NAGPA):c.386C>G (p.Ala129Gly)	NAGPA (A129G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2405651	NM_016256.4(NAGPA):c.286C>T (p.Arg96Trp)	NAGPA (R96W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349752	NM_016256.4(NAGPA):c.258G>C (p.Arg86Ser)	NAGPA (R86S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2356515	NM_016256.4(NAGPA):c.205G>T (p.Ala69Ser)	NAGPA (A69S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268860	NM_016256.4(NAGPA):c.199C>A (p.Pro67Thr)	NAGPA (P67T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614827	NM_016256.4(NAGPA):c.188G>C (p.Ser63Thr)	NAGPA (S63T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322437	NM_016256.4(NAGPA):c.184G>A (p.Glu62Lys)	NAGPA (E62K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3047748	NM_016256.4(NAGPA):c.180G>A (p.Glu60=)	NAGPA	Single nucleotide variant (synonymous variant)	NAGPA-related condition	GLikely benign
Select item 3053239	NM_016256.4(NAGPA):c.174C>T (p.Asn58=)	NAGPA	Single nucleotide variant (synonymous variant)	NAGPA-related condition	GLikely benign
Select item 3044542	NM_016256.4(NAGPA):c.139C>T (p.Leu47Phe)	NAGPA (L47F)	Single nucleotide variant (missense variant)	NAGPA-related condition	GLikely benign
Select item 717404	NM_016256.4(NAGPA):c.83C>T (p.Ser28Leu)	NAGPA, NAGPA-AS1 (S28L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 793359	NM_016256.4(NAGPA):c.33C>A (p.Leu11=)	LOC130058382, NAGPA +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2684780	GRCh37/hg19 16p13.3(chr16:4971768-5305499)x3	ALG1, C16orf89 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684779	GRCh37/hg19 16p13.3(chr16:4462897-5172225)x3	ALG1, ANKS3 +22 more	Copy number gain	not provided	GUncertain significance
Select item 2425098	NC_000016.9:g.(?_3293141)_(5971108_?)dup	NUDT16L1, MEFV +45 more	Duplication	Rubinstein-Taybi syndrome	GUncertain significance
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1710928	GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 1526484	GRCh37/hg19 16p13.3(chr16:4541805-5813911)	SEPTIN12, SMIM22 +18 more	Copy number gain	not specified	GUncertain significance
Select item 1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	JPT2, KCTD5 +188 more	Copy number gain	not provided	GPathogenic
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 980573	GRCh37/hg19 16p13.3(chr16:85880-5249457)x3	ABCA3, ADCY9 +188 more	Copy number gain	not provided	GPathogenic
Select item 815775	GRCh37/hg19 16p13.3(chr16:5080120-5201585)x1	C16orf89, EEF2KMT +2 more	Copy number loss	not provided	GUncertain significance
Select item 815774	GRCh37/hg19 16p13.3(chr16:5023441-5080086)x1	SEC14L5, NAGPA	Copy number loss	not provided	GUncertain significance
Select item 685643	GRCh37/hg19 16p13.3(chr16:3731117-5325699)x3	ADCY9, ALG1 +30 more	Copy number gain	not provided	GPathogenic
Select item 564254	GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3	ABAT, ABCA3 +206 more	Copy number gain	not provided	GPathogenic
Select item 443477	GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3	ABAT, ABCA3 +198 more	Copy number gain	See cases	GPathogenic
Select item 443444	GRCh37/hg19 16p13.3(chr16:3146027-6362229)x1	ADCY9, ALG1 +50 more	Copy number loss	See cases	GPathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	JPT2, KARS1 +810 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	ADAD2, ADAMTS18 +810 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	ABAT, ABCA3 +263 more	Copy number gain	See cases	GPathogenic
Select item 395719	GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448)	ABAT, ABCA3 +196 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	KCTD13, KCTD19 +810 more	Copy number gain	See cases	GPathogenic
Select item 394840	GRCh37/hg19 16p13.3(chr16:97133-5122974)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ITGAM, NPIPA3 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221511	GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3	AMDHD2, ANKS3 +202 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic

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Items: 98