ClinVar for Gene (Select 113510) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3105094	NM_133636.5(HELQ):c.781A>G (p.Arg261Gly)	HELQ (R261G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3105093	NM_133636.5(HELQ):c.749C>A (p.Ser250Tyr)	HELQ (S250Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3105092	NM_133636.5(HELQ):c.5A>G (p.Asp2Gly)	HELQ, LOC112997542 (D2G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3105091	NM_133636.5(HELQ):c.54C>G (p.Asn18Lys)	HELQ, LOC112997542 (N18K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3105089	NM_133636.5(HELQ):c.481A>G (p.Thr161Ala)	HELQ (T161A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3105088	NM_133636.5(HELQ):c.445T>A (p.Cys149Ser)	HELQ (C112S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3105087	NM_133636.5(HELQ):c.3215A>G (p.Lys1072Arg)	HELQ (K1005R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105084	NM_133636.5(HELQ):c.2524A>G (p.Ile842Val)	HELQ (I298V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105082	NM_133636.5(HELQ):c.2417T>C (p.Leu806Pro)	HELQ (L262P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105081	NM_133636.5(HELQ):c.2075C>G (p.Ala692Gly)	HELQ (A195G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105080	NM_133636.5(HELQ):c.1780G>A (p.Ala594Thr)	HELQ (A594T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105079	NM_133636.5(HELQ):c.16T>G (p.Ser6Ala)	HELQ, LOC112997542 (S6A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3105078	NM_133636.5(HELQ):c.1064T>C (p.Leu355Ser)	HELQ (L355S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062764	GRCh37/hg19 4q21.21-22.3(chr4:81558759-95965995)x1	ABCG2, ABRAXAS1 +59 more	Copy number loss	not specified	GPathogenic
Select item 3060988	NM_133636.5(HELQ):c.916G>A (p.Val306Ile)	HELQ (V269I +1 more)	Single nucleotide variant (missense variant +2 more)	HELQ-related disorder	GBenign
Select item 3060320	NM_133636.5(HELQ):c.1036T>C (p.Leu346=)	HELQ	Single nucleotide variant (synonymous variant +1 more)	HELQ-related disorder	GBenign
Select item 3059382	NM_133636.5(HELQ):c.1482T>C (p.Ile494=)	HELQ	Single nucleotide variant (synonymous variant +2 more)	HELQ-related disorder	GBenign
Select item 3058472	NM_133636.5(HELQ):c.1012+51T>C	HELQ	Single nucleotide variant (3 prime UTR variant +2 more)	HELQ-related disorder	GBenign
Select item 3057759	NM_133636.5(HELQ):c.1808+10T>C	HELQ	Single nucleotide variant (intron variant)	HELQ-related disorder	GLikely benign
Select item 3057036	NM_133636.5(HELQ):c.2325T>C (p.His775=)	HELQ	Single nucleotide variant (synonymous variant)	HELQ-related disorder	GBenign
Select item 3056988	NM_133636.5(HELQ):c.704T>C (p.Leu235Pro)	HELQ (L198P +1 more)	Single nucleotide variant (missense variant +2 more)	HELQ-related disorder	GBenign
Select item 3055759	NM_133636.5(HELQ):c.1753C>T (p.Pro585Ser)	HELQ (P41S +3 more)	Single nucleotide variant (missense variant)	HELQ-related disorder	GBenign
Select item 3055337	NM_133636.5(HELQ):c.1662+6A>G	HELQ	Single nucleotide variant (intron variant)	HELQ-related disorder	GBenign
Select item 3051010	NM_133636.5(HELQ):c.1004A>C (p.Lys335Thr)	HELQ (K298T +1 more)	Single nucleotide variant (missense variant +2 more)	HELQ-related disorder	GLikely benign
Select item 3050987	NM_133636.5(HELQ):c.1059A>G (p.Lys353=)	HELQ	Single nucleotide variant (synonymous variant +1 more)	HELQ-related disorder	GLikely benign
Select item 3050187	NM_133636.5(HELQ):c.1646G>A (p.Arg549His)	HELQ (R482H +3 more)	Single nucleotide variant (missense variant)	HELQ-related disorder	GBenign
Select item 3050054	NM_133636.5(HELQ):c.1654A>C (p.Asn552His)	HELQ (N485H +3 more)	Single nucleotide variant (missense variant)	HELQ-related disorder	GBenign
Select item 3049373	NM_133636.5(HELQ):c.376C>T (p.Leu126=)	HELQ	Single nucleotide variant (synonymous variant +2 more)	HELQ-related disorder	GLikely benign
Select item 3048562	NM_133636.5(HELQ):c.1192-4C>G	HELQ	Single nucleotide variant (intron variant)	HELQ-related disorder	GLikely benign
Select item 3048428	NM_133636.5(HELQ):c.47A>G (p.Lys16Arg)	HELQ, LOC112997542 (K16R)	Single nucleotide variant (missense variant +2 more)	HELQ-related disorder	GLikely benign
Select item 3045631	NM_133636.5(HELQ):c.2355G>A (p.Gln785=)	HELQ	Single nucleotide variant (synonymous variant)	HELQ-related disorder	GBenign
Select item 3044793	NM_133636.5(HELQ):c.1428A>C (p.Thr476=)	HELQ	Single nucleotide variant (synonymous variant +1 more)	HELQ-related disorder	GLikely benign
Select item 3041822	NM_133636.5(HELQ):c.1901G>A (p.Arg634His)	HELQ (R137H +3 more)	Single nucleotide variant (missense variant)	HELQ-related disorder	GBenign
Select item 3041319	NM_133636.5(HELQ):c.108C>G (p.Pro36=)	HELQ, LOC112997542	Single nucleotide variant (synonymous variant +2 more)	HELQ-related disorder	GBenign
Select item 3040053	NM_133636.5(HELQ):c.2776-8C>G	HELQ	Single nucleotide variant (intron variant)	HELQ-related disorder	GLikely benign
Select item 3038702	NM_133636.5(HELQ):c.2627A>T (p.Tyr876Phe)	HELQ (Y332F +3 more)	Single nucleotide variant (missense variant)	HELQ-related disorder	GBenign
Select item 3038522	NM_133636.5(HELQ):c.381A>G (p.Glu127=)	HELQ	Single nucleotide variant (synonymous variant +2 more)	HELQ-related disorder	GLikely benign
Select item 3037678	NM_133636.5(HELQ):c.224T>A (p.Leu75His)	HELQ, LOC112997542 (L75H)	Single nucleotide variant (missense variant +3 more)	HELQ-related disorder	GLikely benign
Select item 3037625	NM_133636.5(HELQ):c.3280G>A (p.Val1094Met)	HELQ (V1027M +3 more)	Single nucleotide variant (missense variant)	HELQ-related disorder	GBenign
Select item 3037392	NM_133636.5(HELQ):c.1662+7T>C	HELQ	Single nucleotide variant (intron variant)	HELQ-related disorder	GBenign
Select item 3034718	NM_133636.5(HELQ):c.1470G>A (p.Thr490=)	HELQ	Single nucleotide variant (synonymous variant +2 more)	HELQ-related disorder	GLikely benign
Select item 3034565	NM_133636.5(HELQ):c.2115T>G (p.Ile705Met)	HELQ (I161M +3 more)	Single nucleotide variant (missense variant)	HELQ-related disorder	GLikely benign
Select item 3033776	NM_133636.5(HELQ):c.150C>T (p.Asn50=)	HELQ, LOC112997542	Single nucleotide variant (synonymous variant +2 more)	HELQ-related disorder	GLikely benign
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SPATA18, SPATA4 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685974	GRCh37/hg19 4q21.22-21.23(chr4:84048378-84973081)x3	ABRAXAS1, COQ2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2654856	NM_133636.5(HELQ):c.2679T>C (p.Phe893=)	HELQ	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2617372	NM_133636.5(HELQ):c.691G>T (p.Val231Leu)	HELQ (V231L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2600869	NM_133636.5(HELQ):c.1505A>G (p.Asn502Ser)	HELQ (M1V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2597465	NM_133636.5(HELQ):c.1925A>G (p.Tyr642Cys)	HELQ (Y98C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592614	NM_133636.5(HELQ):c.658G>A (p.Glu220Lys)	HELQ (E220K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2592613	NM_133636.5(HELQ):c.523G>A (p.Glu175Lys)	HELQ (E138K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2579270	GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1	ABCG2, ABRAXAS1 +338 more	Copy number loss	Chromosome 4q21 deletion syndrome	GPathogenic
Select item 2532733	NM_133636.5(HELQ):c.1823A>G (p.His608Arg)	HELQ (H111R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528474	NM_133636.5(HELQ):c.1069T>C (p.Tyr357His)	HELQ (Y357H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519500	NM_133636.5(HELQ):c.1192A>G (p.Ile398Val)	HELQ (I398V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2517779	NM_133636.5(HELQ):c.19C>T (p.Arg7Cys)	HELQ, LOC112997542 (R7C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2488735	NM_133636.5(HELQ):c.2419A>G (p.Thr807Ala)	HELQ (T310A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487957	NM_133636.5(HELQ):c.961A>G (p.Ser321Gly)	HELQ (S321G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2487736	NM_133636.5(HELQ):c.1909C>G (p.Pro637Ala)	HELQ (P570A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486845	NM_133636.5(HELQ):c.499G>A (p.Glu167Lys)	HELQ (E167K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2486502	NM_133636.5(HELQ):c.931A>G (p.Asn311Asp)	HELQ (N274D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2468622	NM_133636.5(HELQ):c.2489T>C (p.Ile830Thr)	HELQ (I333T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466254	NM_133636.5(HELQ):c.2620A>G (p.Thr874Ala)	HELQ (T330A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458336	NM_133636.5(HELQ):c.479C>A (p.Thr160Asn)	HELQ (T123N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2426212	NC_000004.11:g.(?_84185352)_(84406225_?)del	ABRAXAS1, COQ2 +3 more	Deletion	not provided	GPathogenic
Select item 2399172	NM_133636.5(HELQ):c.1945A>G (p.Ser649Gly)	HELQ (S582G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396213	NM_133636.5(HELQ):c.1043C>T (p.Ser348Phe)	HELQ (S348F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384853	NM_133636.5(HELQ):c.682C>T (p.His228Tyr)	HELQ (H228Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2380522	NM_133636.5(HELQ):c.3108G>A (p.Met1036Ile)	HELQ (M1036I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379684	NM_133636.5(HELQ):c.901G>T (p.Val301Phe)	HELQ (V264F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2371223	NM_133636.5(HELQ):c.776T>G (p.Met259Arg)	HELQ (M222R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2365992	NM_133636.5(HELQ):c.136A>G (p.Met46Val)	HELQ, LOC112997542 (M46V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2348558	NM_133636.5(HELQ):c.3277G>A (p.Ala1093Thr)	HELQ (A1026T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340139	NM_133636.5(HELQ):c.1988T>C (p.Val663Ala)	HELQ (V663A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330948	NM_133636.5(HELQ):c.3125A>G (p.Asn1042Ser)	HELQ (N1042S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326773	NM_133636.5(HELQ):c.265C>T (p.His89Tyr)	HELQ, LOC112997542 (H89Y)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 2318055	NM_133636.5(HELQ):c.2836A>C (p.Lys946Gln)	HELQ (K402Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307419	NM_133636.5(HELQ):c.2909G>C (p.Gly970Ala)	HELQ (G426A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298625	NM_133636.5(HELQ):c.2782G>A (p.Asp928Asn)	HELQ (D431N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261055	NM_133636.5(HELQ):c.2798A>G (p.Asn933Ser)	HELQ (N933S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249587	NM_133636.5(HELQ):c.1867A>C (p.Ile623Leu)	HELQ (I556L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248066	NM_133636.5(HELQ):c.475A>G (p.Ile159Val)	HELQ (I159V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2240093	NM_133636.5(HELQ):c.1772A>G (p.Glu591Gly)	HELQ (E47G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229649	NM_133636.5(HELQ):c.416A>T (p.His139Leu)	HELQ (H139L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2223998	NM_133636.5(HELQ):c.3159A>T (p.Leu1053Phe)	HELQ (L986F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213668	NM_133636.5(HELQ):c.2647A>G (p.Asn883Asp)	HELQ (N339D +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1808342	GRCh37/hg19 4q21.23(chr4:84142481-84840424)x3	ABRAXAS1, COQ2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1708193	GRCh37/hg19 4q21.22-21.23(chr4:84048377-84744105)x1	HPSE, MRPS18C +4 more	Copy number loss	See cases	GPathogenic
Select item 1527107	GRCh37/hg19 4q21.23(chr4:84317758-85090749)	ABRAXAS1, GPAT3 +2 more	Copy number loss	not specified	GUncertain significance
Select item 1527106	GRCh37/hg19 4q21.23(chr4:84134525-84984297)	ABRAXAS1, COQ2 +4 more	Copy number loss	not specified	GUncertain significance
Select item 1527103	GRCh37/hg19 4q21.21-22.1(chr4:81054789-90667421)	ABCG2, ABRAXAS1 +53 more	Copy number loss	not specified	GPathogenic
Select item 1527100	GRCh37/hg19 4q21.21-22.2(chr4:79780152-94873225)	ABCG2, ABRAXAS1 +63 more	Copy number loss	not specified	GPathogenic
Select item 1527097	GRCh37/hg19 4q13.3-22.1(chr4:75737340-91131156)	ABCG2, ABRAXAS1 +91 more	Copy number gain	not specified	GPathogenic
Select item 1341211	GRCh37/hg19 4q21.21-22.1(chr4:80467886-93362064)x1	ABCG2, ABRAXAS1 +58 more	Copy number loss	not provided	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 983172	GRCh37/hg19 4q13.3-21.3(chr4:71412409-87920784)x1	ABRAXAS1, ADAMTS3 +97 more	Copy number loss	See cases	GPathogenic
Select item 929364	GRCh37/hg19 4q21.22-21.23(chr4:84053945-85081980)x3	ABRAXAS1, COQ2 +4 more	Copy number gain	See cases	GUncertain significance
Select item 830313	Single allele	ABRAXAS1, CDS1 +16 more	Deletion	Chromosome 4q21 deletion syndrome	GPathogenic
Select item 814576	GRCh37/hg19 4q21.22-21.23(chr4:82593140-85651685)x1	ENOPH1, MRPS18C +17 more	Copy number loss	not provided	GPathogenic
Select item 814566	GRCh37/hg19 4q13.3-21.23(chr4:72680879-86426232)x1	CXCL3, LIN54 +82 more	Copy number loss	not provided	GPathogenic

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