ClinVar for Gene (Select 54936) - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3273680	NM_017825.3(ADPRS):c.446A>G (p.Tyr149Cys)	ADPRS (Y149C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273669	NM_017825.3(ADPRS):c.53G>T (p.Arg18Leu)	ADPRS (R18L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273658	NM_017825.3(ADPRS):c.1073G>T (p.Arg358Leu)	ADPRS (R358L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3090464	NM_017825.3(ADPRS):c.953T>C (p.Ile318Thr)	ADPRS (I318T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3090445	NM_017825.3(ADPRS):c.613G>A (p.Glu205Lys)	ADPRS (E205K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3090443	NM_017825.3(ADPRS):c.583G>T (p.Ala195Ser)	ADPRS (A195S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3090439	NM_017825.3(ADPRS):c.553T>C (p.Ser185Pro)	ADPRS (S185P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3090436	NM_017825.3(ADPRS):c.523C>T (p.Arg175Trp)	ADPRS (R175W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3090432	NM_017825.3(ADPRS):c.517-4C>G	ADPRS	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3090427	NM_017825.3(ADPRS):c.47C>G (p.Ala16Gly)	ADPRS (A16G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3090424	NM_017825.3(ADPRS):c.397C>T (p.Arg133Cys)	ADPRS (R133C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3090421	NM_017825.3(ADPRS):c.395G>C (p.Cys132Ser)	ADPRS (C132S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3090416	NM_017825.3(ADPRS):c.342G>T (p.Arg114Ser)	ADPRS (R114S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3090408	NM_017825.3(ADPRS):c.301G>A (p.Ala101Thr)	ADPRS (A101T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3090402	NM_017825.3(ADPRS):c.23C>T (p.Ala8Val)	ADPRS (A8V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3090399	NM_017825.3(ADPRS):c.22G>A (p.Ala8Thr)	ADPRS (A8T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3090396	NM_017825.3(ADPRS):c.15_29dup (p.Ala10_Gly11insMetAlaAlaAlaAla)	ADPRS	Duplication (inframe_insertion)	Inborn genetic diseases	GUncertain significance
Select item 3090394	NM_017825.3(ADPRS):c.136G>C (p.Val46Leu)	ADPRS (V46L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3090389	NM_017825.3(ADPRS):c.125C>T (p.Ala42Val)	ADPRS (A42V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3090385	NM_017825.3(ADPRS):c.101A>G (p.Asp34Gly)	ADPRS (D34G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065832	NM_017825.3(ADPRS):c.242T>A (p.Met81Lys)	ADPRS (M81K)	Single nucleotide variant (missense variant)	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	GUncertain significance
Select item 3065831	NM_017825.3(ADPRS):c.238G>T (p.Ala80Ser)	ADPRS (A80S)	Single nucleotide variant (missense variant)	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	GUncertain significance
Select item 3058872	NM_017825.3(ADPRS):c.234C>T (p.Asp78=)	ADPRS	Single nucleotide variant (synonymous variant)	ADPRS-related disorder	GBenign
Select item 3058436	NM_017825.3(ADPRS):c.483C>A (p.Ser161=)	ADPRS	Single nucleotide variant (synonymous variant)	ADPRS-related disorder	GLikely benign
Select item 3025543	NM_017825.3(ADPRS):c.714G>A (p.Glu238=)	ADPRS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2687771	NM_017825.3(ADPRS):c.545A>G (p.His182Arg)	ADPRS (H182R)	Single nucleotide variant (missense variant)	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	GUncertain significance
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2638666	NM_017825.3(ADPRS):c.288C>T (p.Asp96=)	ADPRS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638665	NM_017825.3(ADPRS):c.36A>G (p.Gly12=)	ADPRS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2613243	NM_017825.3(ADPRS):c.26C>T (p.Ala9Val)	ADPRS (A9V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2583170	NM_017825.3(ADPRS):c.166C>T (p.Gln56Ter)	ADPRS (Q56*)	Single nucleotide variant (nonsense)	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	GLikely pathogenic
Select item 2572385	NM_017825.3(ADPRS):c.146del (p.Thr49fs)	ADPRS (T49fs)	Deletion (frameshift variant)	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	GPathogenic
Select item 2569284	NM_017825.3(ADPRS):c.503A>G (p.Gln168Arg)	ADPRS (Q168R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2564423	NM_017825.3(ADPRS):c.719G>A (p.Arg240His)	ADPRS (R240H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2557666	NM_017825.3(ADPRS):c.275A>G (p.Lys92Arg)	ADPRS (K92R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550926	NM_017825.3(ADPRS):c.943A>G (p.Thr315Ala)	ADPRS (T315A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543912	NM_017825.3(ADPRS):c.493A>G (p.Ser165Gly)	ADPRS (S165G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520045	NM_017825.3(ADPRS):c.650G>A (p.Gly217Asp)	ADPRS (G217D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517854	NM_017825.3(ADPRS):c.746T>A (p.Ile249Asn)	ADPRS (I249N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483827	NM_017825.3(ADPRS):c.856C>T (p.Arg286Cys)	ADPRS (R286C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476756	NM_017825.3(ADPRS):c.1011G>T (p.Glu337Asp)	ADPRS (E337D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470655	NM_017825.3(ADPRS):c.32G>A (p.Gly11Asp)	ADPRS (G11D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1808707	GRCh37/hg19 1p34.3(chr1:35104233-37357913)x1	ADPRS, AGO1 +32 more	Copy number loss	not provided	GPathogenic
Select item 1800968	NM_017825.3(ADPRS):c.1007C>T (p.Pro336Leu)	ADPRS (P336L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1683693	NM_017825.3(ADPRS):c.466C>T (p.Arg156Trp)	ADPRS (R156W)	Single nucleotide variant (missense variant)	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	GUncertain significance
Select item 1683692	NM_017825.3(ADPRS):c.1038C>G (p.Tyr346Ter)	ADPRS (Y346*)	Single nucleotide variant (nonsense)	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	GConflicting classifications of pathogenicity
Select item 1679337	NM_017825.3(ADPRS):c.564C>A (p.Tyr188Ter)	ADPRS (Y188*)	Single nucleotide variant (nonsense)	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	GLikely pathogenic
Select item 1679312	NM_017825.3(ADPRS):c.544C>T (p.His182Tyr)	ADPRS (H182Y)	Single nucleotide variant (missense variant)	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	GUncertain significance
Select item 1526904	GRCh37/hg19 1p34.3(chr1:36041366-39112237)	ADPRS, AGO1 +37 more	Copy number loss	not specified	GUncertain significance
Select item 1526893	GRCh37/hg19 1p34.3(chr1:35950860-36635695)	ADPRS, AGO1 +12 more	Copy number gain	not specified	GUncertain significance
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 1339799	NM_017825.3(ADPRS):c.340_341del (p.Arg114fs)	ADPRS (R114fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1029488	NM_017825.3(ADPRS):c.491A>G (p.Tyr164Cys)	ADPRS (Y164C)	Single nucleotide variant (missense variant)	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	GUncertain significance
Select item 1029487	NM_017825.3(ADPRS):c.384G>A (p.Leu128=)	ADPRS	Single nucleotide variant (synonymous variant)	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	GUncertain significance
Select item 1029486	NM_017825.3(ADPRS):c.136G>T (p.Val46Phe)	ADPRS (V46F)	Single nucleotide variant (missense variant)	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures +1 more	GUncertain significance
Select item 870372	NM_017825.3(ADPRS):c.639_642del (p.Lys213fs)	ADPRS (K213fs)	Deletion (frameshift variant)	Abdominal distention +8 more	GUncertain significance
Select item 852549	NM_017825.3(ADPRS):c.416_426del (p.Ala139fs)	ADPRS (A139fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 807535	NM_017825.3(ADPRS):c.744_746del (p.Lys248_Ile249delinsAsn)	ADPRS	Deletion (inframe_indel)	not provided +1 more	GLikely pathogenic
Select item 804377	NM_017825.3(ADPRS):c.169_170del (p.Leu58fs)	ADPRS (L58fs)	Microsatellite (frameshift variant)	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	GLikely pathogenic
Select item 801466	NM_017825.3(ADPRS):c.485T>C (p.Leu162Pro)	ADPRS (L162P)	Single nucleotide variant (missense variant)	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	GLikely pathogenic
Select item 687265	GRCh37/hg19 1p34.3(chr1:36496921-36829945)x3	ADPRS, AGO3 +8 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 599344	NM_017825.3(ADPRS):c.292del (p.Val98fs)	ADPRS (V98fs)	Deletion (frameshift variant)	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	GPathogenic
Select item 599343	NM_017825.3(ADPRS):c.1004T>G (p.Val335Gly)	ADPRS (V335G)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 590303	NM_017825.3(ADPRS):c.100G>A (p.Asp34Asn)	ADPRS (D34N)	Single nucleotide variant (missense variant)	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	GPathogenic
Select item 590302	NM_017825.3(ADPRS):c.530C>T (p.Ser177Leu)	ADPRS (S177L)	Single nucleotide variant (missense variant)	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	GLikely pathogenic
Select item 590301	NM_017825.3(ADPRS):c.414_418del (p.Ala139fs)	ADPRS (A139fs)	Deletion (frameshift variant)	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	GPathogenic
Select item 590300	NM_017825.3(ADPRS):c.235A>C (p.Thr79Pro)	ADPRS (T79P)	Single nucleotide variant (missense variant)	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	GPathogenic/Likely pathogenic
Select item 590299	NM_017825.3(ADPRS):c.316C>T (p.Gln106Ter)	ADPRS (Q106*)	Single nucleotide variant (nonsense)	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	GLikely pathogenic
Select item 590298	NM_017825.3(ADPRS):c.1000C>T (p.Gln334Ter)	ADPRS (Q334*)	Single nucleotide variant (nonsense)	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	GPathogenic
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 395434	GRCh37/hg19 1p34.3(chr1:34830287-36945093)x1	ADPRS, AGO1 +31 more	Copy number loss	See cases	GPathogenic
Select item 149964	GRCh38/hg38 1p34.3(chr1:35934217-36821999)x4	ADPRS, AGO3 +50 more	Copy number gain	See cases	GLikely pathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 76