ClinVar for Gene (Select 4678) - ClinVar

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Links from Gene

Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3298451	NM_002482.4(NASP):c.857T>C (p.Leu286Pro)	NASP (L222P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298450	NM_002482.4(NASP):c.2309G>A (p.Arg770Gln)	NASP (R431Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298449	NM_002482.4(NASP):c.191A>G (p.Asn64Ser)	NASP (N64S)	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 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 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 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 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 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 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 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 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 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 3063121	GRCh37/hg19 1p34.1(chr1:45857175-46077062)x3	AKR1A1, MMACHC +3 more	Copy number gain	not specified	GUncertain significance
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
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 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 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 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 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 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 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 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 2535668	NM_002482.4(NASP):c.83C>G (p.Ser28Cys)	NASP (S28C)	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 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 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 2456355	NM_002482.4(NASP):c.70G>A (p.Val24Ile)	NASP (V24I)	Single nucleotide variant (missense variant)	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2257592	NM_002482.4(NASP):c.52G>C (p.Ala18Pro)	NASP (A18P)	Single nucleotide variant (missense variant)	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 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 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 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 762510	NM_002482.4(NASP):c.2223G>A (p.Val741=)	NASP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 714067	NM_002482.4(NASP):c.585A>C (p.Pro195=)	NASP	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +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
Select item 153233	GRCh38/hg38 1p34.1(chr1:45569797-46183208)x3	AKR1A1, CCDC17 +32 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 152663	GRCh38/hg38 1p34.1(chr1:45611232-45961272)x3	CCDC17, GPBP1L1 +12 more	Copy number gain	See cases	GUncertain significance
Select item 148588	GRCh38/hg38 1p34.1(chr1:45488251-46220805)x3	AKR1A1, CCDC163 +52 more	Copy number gain	See cases	GUncertain significance
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

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Links from Gene

Items: 79