ARSK[gene] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic
Select item 150860	GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1	ADGRV1, ARB2A +436 more	Copy number loss	See cases	GPathogenic
Select item 57272	GRCh38/hg38 5q14.3-21.1(chr5:87376883-101524443)x1	LOC110120974, LOC110120977 +277 more	Copy number loss	See cases	GPathogenic
Select item 59664	GRCh38/hg38 5q14.3-21.2(chr5:89081352-104687248)x1	ADGRV1, ARB2A +275 more	Copy number loss	See cases	GPathogenic
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	LOC129994523, LOC129994524 +683 more	Copy number loss	See cases	GPathogenic
Select item 59667	GRCh38/hg38 5q14.3-15(chr5:91386552-98365880)x1	ARB2A, ARRDC3-AS1 +147 more	Copy number loss	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 more	Copy number loss	See cases	GPathogenic
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	DMXL1, DMXL1-DT +496 more	Copy number loss	See cases	GPathogenic
Select item 155182	GRCh38/hg38 5q15-22.2(chr5:93193104-113287795)x1	APC, ARB2A +343 more	Copy number loss	See cases	GPathogenic
Select item 59443	GRCh38/hg38 5q15(chr5:93405010-97716265)x3	ARB2A, ARSK +120 more	Copy number gain	See cases	GUncertain significance
Select item 150147	GRCh38/hg38 5q15(chr5:94902711-95930059)x3	ARSK, ELL2 +42 more	Copy number gain	See cases	GLikely benign
Select item 2240487	NM_198150.3(ARSK):c.31G>A (p.Ala11Thr)	ARSK (A11T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410073	NM_198150.3(ARSK):c.77G>A (p.Arg26Gln)	ARSK (R26Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129936	NM_198150.3(ARSK):c.127G>T (p.Asp43Tyr)	ARSK (D43Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276415	NM_198150.3(ARSK):c.128A>T (p.Asp43Val)	ARSK (D43V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1332916	NM_198150.3(ARSK):c.250C>T (p.Arg84Cys)	ARSK (R84C)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, type 10	GPathogenic
Select item 3129937	NM_198150.3(ARSK):c.251G>A (p.Arg84His)	ARSK (R84H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3355269	NM_198150.3(ARSK):c.257-6del	ARSK	Deletion (intron variant)	ARSK-related disorder	GLikely benign
Select item 3129938	NM_198150.3(ARSK):c.313C>G (p.Leu105Val)	ARSK (L105V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316651	NM_198150.3(ARSK):c.452T>C (p.Phe151Ser)	ARSK (F151S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1332917	NM_198150.3(ARSK):c.560T>A (p.Leu187Ter)	ARSK (L187*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, type 10	GPathogenic
Select item 2232350	NM_198150.3(ARSK):c.571G>C (p.Ala191Pro)	ARSK (A191P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342003	NM_198150.3(ARSK):c.574A>G (p.Ile192Val)	ARSK (I192V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561042	NM_198150.3(ARSK):c.586G>A (p.Glu196Lys)	ARSK (E196K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316633	NM_198150.3(ARSK):c.608G>C (p.Gly203Ala)	ARSK (G203A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129939	NM_198150.3(ARSK):c.667A>G (p.Thr223Ala)	ARSK (T223A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340759	NM_198150.3(ARSK):c.713C>A (p.Ala238Asp)	ARSK (A238D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553755	NM_198150.3(ARSK):c.821A>G (p.Asn274Ser)	ARSK (N274S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388311	NM_198150.3(ARSK):c.868C>T (p.Leu290Phe)	ARSK (L290F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129940	NM_198150.3(ARSK):c.902A>T (p.Asp301Val)	ARSK, LOC126807455 (D301V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253625	NM_198150.3(ARSK):c.952G>A (p.Ala318Thr)	ARSK, LOC126807455 (A318T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045720	NM_198150.3(ARSK):c.982A>G (p.Ser328Gly)	ARSK, LOC126807455 (S328G)	Single nucleotide variant (missense variant)	ARSK-related disorder	GLikely benign
Select item 3040142	NM_198150.3(ARSK):c.1010C>T (p.Pro337Leu)	ARSK, LOC126807455 (P337L)	Single nucleotide variant (missense variant)	ARSK-related disorder	GLikely benign
Select item 2401579	NM_198150.3(ARSK):c.1112C>A (p.Pro371His)	ARSK (P371H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129935	NM_198150.3(ARSK):c.1142T>C (p.Leu381Ser)	ARSK (L381S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 493414	NM_198150.3(ARSK):c.1165_1168del (p.Phe389fs)	ARSK (F389fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2597568	NM_198150.3(ARSK):c.1175A>G (p.Glu392Gly)	ARSK (E392G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519206	NM_198150.3(ARSK):c.1243T>A (p.Ser415Thr)	ARSK (S415T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1342941	NM_198150.3(ARSK):c.1251C>G (p.Tyr417Ter)	ARSK (Y417*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, type 10	GPathogenic
Select item 2544259	NM_198150.3(ARSK):c.1259G>A (p.Arg420Gln)	ARSK (R420Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372513	NM_198150.3(ARSK):c.1305A>G (p.Ile435Met)	ARSK (I435M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2664211	NM_198150.3(ARSK):c.1312C>T (p.Gln438Ter)	ARSK (Q438*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, type 10	GUncertain significance
Select item 2547099	NM_198150.3(ARSK):c.1354G>A (p.Val452Ile)	ARSK (V452I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2409378	NM_198150.3(ARSK):c.1379C>T (p.Thr460Ile)	ARSK (T460I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507995	NM_198150.3(ARSK):c.1426G>C (p.Val476Leu)	ARSK (V476L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316640	NM_198150.3(ARSK):c.1521G>T (p.Arg507Ser)	ARSK (R507S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148929	GRCh37/hg19 5q14.3-21.2(chr5:89923199-104256041)x3	ADGRV1, ARB2A +34 more	Copy number gain	See cases	GUncertain significance
Select item 3062848	GRCh37/hg19 5q15-23.2(chr5:93828571-123711334)x1	AP3S1, APC +80 more	Copy number loss	not specified	GPathogenic
Select item 2425958	NC_000005.9:g.(?_94800311)_(96107383_?)del	ARSK, CAST +9 more	Deletion	not provided	GPathogenic
Select item 1808134	GRCh37/hg19 5q15(chr5:93524163-95017463)x3	ARSK, FAM81B +7 more	Copy number gain	not provided	GUncertain significance
Select item 1527179	GRCh37/hg19 5q15-22.3(chr5:93650000-114969108)	DCP2, EFNA5 +56 more	Copy number loss	not specified	GPathogenic
Select item 816490	GRCh37/hg19 5q14.3-21.3(chr5:87792844-109221844)x3	CAST, CETN3 +45 more	Copy number gain	See cases	GLikely pathogenic
Select item 814713	GRCh37/hg19 5q15(chr5:94715085-95251238)x3	SPATA9, ARSK +7 more	Copy number gain	not provided	GUncertain significance
Select item 814693	GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3	ACOT12, ADGRV1 +98 more	Copy number gain	not provided	GPathogenic
Select item 688598	GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3	ADAMTS19, ADGRV1 +104 more	Copy number gain	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563093	GRCh37/hg19 5q15(chr5:94881523-95294150)x3	SPATA9, GLRX +6 more	Copy number gain	not provided	GUncertain significance
Select item 563091	GRCh37/hg19 5q14.3-21.3(chr5:91504101-104858348)x1	ARB2A, ARSK +31 more	Copy number loss	not provided	GPathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	AFF4, C5orf46 +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 253708	GRCh37/hg19 5q15(chr5:94319893-95158593)x3	TTC37, SPATA9 +7 more	Copy number gain	See cases	GUncertain significance

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Items: 64