NASP[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 145560	GRCh38/hg38 1p34.1(chr1:44962358-45585262)x3	AKR1A1, CCDC163 +48 more	Copy number gain	See cases	GUncertain significance
Select item 57754	GRCh38/hg38 1p34.1(chr1:45402871-45603348)x3	AKR1A1, CCDC163 +22 more	Copy number gain	See cases	GUncertain significance
Select item 57383	GRCh38/hg38 1p34.1(chr1:45440264-45869574)x3	AKR1A1, CCDC163 +34 more	Copy number gain	See cases	GUncertain significance
Select item 152740	GRCh38/hg38 1p34.1(chr1:45469848-46220805)x3	AKR1A1, CCDC163 +53 more	Copy number gain	See cases	GLikely benign
Select item 148588	GRCh38/hg38 1p34.1(chr1:45488251-46220805)x3	AKR1A1, CCDC163 +52 more	Copy number gain	See cases	GUncertain significance
Select item 153233	GRCh38/hg38 1p34.1(chr1:45569797-46183208)x3	AKR1A1, CCDC17 +32 more	Copy number gain	See cases	GUncertain significance
Select item 2257592	NM_002482.4(NASP):c.52G>C (p.Ala18Pro)	NASP (A18P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456355	NM_002482.4(NASP):c.70G>A (p.Val24Ile)	NASP (V24I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535668	NM_002482.4(NASP):c.83C>G (p.Ser28Cys)	NASP (S28C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259137	NM_002482.4(NASP):c.157C>T (p.His53Tyr)	NASP (H53Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557124	NM_002482.4(NASP):c.244A>G (p.Asn82Asp)	NASP (N82D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270471	NM_002482.4(NASP):c.329T>G (p.Leu110Trp)	NASP (L110W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175919	NM_002482.4(NASP):c.447C>A (p.Asp149Glu)	NASP (D149E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615378	NM_002482.4(NASP):c.467A>C (p.Glu156Ala)	NASP (E156A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360994	NM_002482.4(NASP):c.505G>A (p.Glu169Lys)	NASP (E105K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175928	NM_002482.4(NASP):c.526A>G (p.Ser176Gly)	NASP (S112G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400907	NM_002482.4(NASP):c.527G>A (p.Ser176Asn)	NASP (S112N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349993	NM_002482.4(NASP):c.527G>T (p.Ser176Ile)	NASP (S176I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612052	NM_002482.4(NASP):c.564A>G (p.Ile188Met)	NASP (I188M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 714067	NM_002482.4(NASP):c.585A>C (p.Pro195=)	NASP	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2487754	NM_002482.4(NASP):c.641A>G (p.Lys214Arg)	NASP (K214R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326498	NM_002482.4(NASP):c.665C>T (p.Pro222Leu)	NASP (P222L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2554258	NM_002482.4(NASP):c.710C>T (p.Pro237Leu)	NASP (P173L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267861	NM_002482.4(NASP):c.712G>C (p.Asp238His)	NASP (D174H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258044	NM_002482.4(NASP):c.758A>C (p.Glu253Ala)	NASP (E253A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175953	NM_002482.4(NASP):c.761G>A (p.Cys254Tyr)	NASP (C254Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2331728	NM_002482.4(NASP):c.783G>T (p.Glu261Asp)	NASP (E197D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175958	NM_002482.4(NASP):c.817A>G (p.Lys273Glu)	NASP (K209E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175961	NM_002482.4(NASP):c.856C>G (p.Leu286Val)	NASP (L222V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2225527	NM_002482.4(NASP):c.940C>T (p.Pro314Ser)	NASP (P314S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175970	NM_002482.4(NASP):c.983C>G (p.Ala328Gly)	NASP (A264G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351823	NM_002482.4(NASP):c.983C>T (p.Ala328Val)	NASP (A264V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2384574	NM_002482.4(NASP):c.1045A>G (p.Thr349Ala)	NASP (T349A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316895	NM_002482.4(NASP):c.1094A>G (p.Glu365Gly)	NASP (E365G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239538	NM_002482.4(NASP):c.1133G>A (p.Gly378Asp)	NASP (G314D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467254	NM_002482.4(NASP):c.1142A>G (p.Asn381Ser)	NASP (N381S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465483	NM_002482.4(NASP):c.1148C>T (p.Pro383Leu)	NASP (P383L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3175852	NM_002482.4(NASP):c.1165C>G (p.Gln389Glu)	NASP (Q389E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385595	NM_002482.4(NASP):c.1174A>G (p.Ile392Val)	NASP (I392V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2617290	NM_002482.4(NASP):c.1222T>C (p.Ser408Pro)	NASP (S344P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279509	NM_002482.4(NASP):c.1235A>G (p.Glu412Gly)	NASP (E348G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405578	NM_002482.4(NASP):c.1363A>G (p.Lys455Glu)	NASP (K391E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 152663	GRCh38/hg38 1p34.1(chr1:45611232-45961272)x3	CCDC17, GPBP1L1 +12 more	Copy number gain	See cases	GUncertain significance
Select item 2605922	NM_002482.4(NASP):c.1624G>A (p.Ala542Thr)	NASP (A203T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175870	NM_002482.4(NASP):c.1724A>G (p.Tyr575Cys)	NASP (Y511C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347201	NM_002482.4(NASP):c.1826A>G (p.Lys609Arg)	NASP (K545R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 733493	NM_002482.4(NASP):c.1831A>G (p.Ile611Val)	NASP (I611V +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2297255	NM_002482.4(NASP):c.1836A>C (p.Glu612Asp)	NASP (E548D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175879	NM_002482.4(NASP):c.1921G>A (p.Glu641Lys)	NASP (E302K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175883	NM_002482.4(NASP):c.1942G>A (p.Glu648Lys)	NASP (E584K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615316	NM_002482.4(NASP):c.1945A>G (p.Ile649Val)	NASP (I649V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515430	NM_002482.4(NASP):c.1982G>A (p.Arg661His)	NASP (R322H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2327096	NM_002482.4(NASP):c.1984A>T (p.Ser662Cys)	NASP (S598C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222178	NM_002482.4(NASP):c.2164C>A (p.Pro722Thr)	NASP (P383T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377106	NM_002482.4(NASP):c.2216C>T (p.Pro739Leu)	NASP (P675L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 762510	NM_002482.4(NASP):c.2223G>A (p.Val741=)	NASP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2333410	NM_002482.4(NASP):c.2236G>A (p.Gly746Arg)	NASP (G746R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330351	NM_002482.4(NASP):c.2248C>T (p.Pro750Ser)	NASP (P411S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2284194	NM_002482.4(NASP):c.2267C>T (p.Ser756Leu)	NASP (S756L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596895	NM_002482.4(NASP):c.2308C>T (p.Arg770Trp)	NASP (R431W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063121	GRCh37/hg19 1p34.1(chr1:45857175-46077062)x3	AKR1A1, MMACHC +3 more	Copy number gain	not specified	GUncertain significance
Select item 2425557	NC_000001.10:g.(?_44257753)_(46663493_?)dup	AKR1A1, ARMH1 +39 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1684561	GRCh37/hg19 1p34.1(chr1:44346001-46332161)x3	AKR1A1, ARMH1 +36 more	Copy number gain	See cases	GUncertain significance
Select item 1526960	GRCh37/hg19 1p34.1(chr1:46083531-46738006)	CCDC17, GPBP1L1 +9 more	Copy number gain	not specified	GUncertain significance
Select item 1526949	GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856)	AGBL4, AKR1A1 +58 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 980384	GRCh37/hg19 1p34.1(chr1:46044043-46096146)x1	NASP, CCDC17 +1 more	Copy number loss	not provided	GUncertain significance
Select item 689330	GRCh37/hg19 1p34.1(chr1:46057301-46552564)x3	CCDC17, GPBP1L1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	CLSPN, COL8A2 +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 441702	GRCh37/hg19 1p34.1(chr1:45715667-46501705)x3	AKR1A1, CCDC17 +11 more	Copy number gain	See cases	GUncertain significance
Select item 394255	GRCh37/hg19 1p34.1(chr1:46078097-46725770)x3	CCDC17, GPBP1L1 +9 more	Copy number gain	See cases	GUncertain significance
Select item 253787	GRCh37/hg19 1p34.1(chr1:45953923-46126722)x3	AKR1A1, CCDC17 +5 more	Copy number gain	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 76