ClinVar for Gene (Select 4481) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063031	GRCh37/hg19 8p23.1-22(chr8:12560781-16099271)x3	C8orf48, DLC1 +5 more	Copy number gain	not specified	GUncertain significance
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	DEFB134, DEFB135 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3060145	NM_138715.3(MSR1):c.1086G>A (p.Arg362=)	MSR1	Single nucleotide variant (synonymous variant +1 more)	MSR1-related condition	GBenign
Select item 3053854	NM_138715.3(MSR1):c.591G>C (p.Leu197=)	MSR1	Single nucleotide variant (synonymous variant)	MSR1-related condition	GBenign
Select item 3053687	NM_138715.3(MSR1):c.541A>G (p.Ile181Val)	MSR1 (I181V +1 more)	Single nucleotide variant (missense variant)	MSR1-related condition	GLikely benign
Select item 3050003	NM_138715.3(MSR1):c.630+7G>A	MSR1	Single nucleotide variant (intron variant)	MSR1-related condition	GLikely benign
Select item 3049725	NM_138715.3(MSR1):c.-5+6386C>A	MSR1	Single nucleotide variant (5 prime UTR variant +1 more)	MSR1-related condition	GLikely benign
Select item 3048825	NM_138715.3(MSR1):c.354G>A (p.Met118Ile)	MSR1 (M118I +1 more)	Single nucleotide variant (missense variant)	MSR1-related condition	GLikely benign
Select item 3042130	NM_138715.3(MSR1):c.1034-17_1034-10del	MSR1	Deletion (intron variant)	MSR1-related condition	GBenign
Select item 3041467	NM_138715.3(MSR1):c.732G>A (p.Val244=)	MSR1	Single nucleotide variant (synonymous variant)	MSR1-related condition	GLikely benign
Select item 2776135	NM_138715.3(MSR1):c.1034-11del	MSR1	Deletion (intron variant)	not provided	GBenign
Select item 2685301	GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1	HR, MIR320A +95 more	Copy number loss	not provided	GPathogenic
Select item 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2684528	GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	ADAM28, ADAM7 +145 more	Copy number gain	not provided	GPathogenic
Select item 2684526	GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3	ADAM28, ADAM7 +140 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	ADAM18, ADAM2 +225 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2658442	NM_138715.3(MSR1):c.357C>T (p.Ser119=)	MSR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621427	NM_138715.3(MSR1):c.757G>T (p.Asp253Tyr)	MSR1 (D253Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612317	NM_138715.3(MSR1):c.926G>A (p.Gly309Glu)	MSR1 (G327E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600632	NM_138715.3(MSR1):c.691G>A (p.Glu231Lys)	MSR1 (E249K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599786	NM_138715.3(MSR1):c.1334C>G (p.Ala445Gly)	MSR1 (A445G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	DMTN, DOK2 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 2569732	NM_138715.3(MSR1):c.430T>A (p.Phe144Ile)	MSR1 (F162I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559371	NM_138715.3(MSR1):c.758A>C (p.Asp253Ala)	MSR1 (D271A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544768	NM_138715.3(MSR1):c.1219C>G (p.Gln407Glu)	MSR1 (Q407E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2493270	NM_138715.3(MSR1):c.23A>G (p.His8Arg)	MSR1 (H8R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2491470	NM_138715.3(MSR1):c.554C>T (p.Thr185Ile)	MSR1 (T185I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491138	NM_138715.3(MSR1):c.857C>T (p.Pro286Leu)	MSR1 (P304L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486364	NM_138715.3(MSR1):c.1124G>A (p.Cys375Tyr)	MSR1 (C375Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2480779	NM_138715.3(MSR1):c.638G>C (p.Ser213Thr)	MSR1 (S213T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445387	NM_138715.3(MSR1):c.76C>T (p.Arg26Cys)	MSR1 (R26C +1 more)	Single nucleotide variant (missense variant)	Ovarian cancer	GLikely pathogenic
Select item 2445377	NM_138715.3(MSR1):c.1223G>C (p.Gly408Ala)	MSR1 (G408A +2 more)	Single nucleotide variant (missense variant)	Ovarian cancer	GLikely pathogenic
Select item 2445374	NM_138715.3(MSR1):c.722A>G (p.Lys241Arg)	MSR1 (K241R +1 more)	Single nucleotide variant (missense variant)	Ovarian cancer	GLikely pathogenic
Select item 2445365	NM_138715.3(MSR1):c.68T>G (p.Phe23Cys)	MSR1 (F23C +1 more)	Single nucleotide variant (missense variant)	Ovarian cancer	GLikely pathogenic
Select item 2445354	NM_138715.3(MSR1):c.905C>A (p.Pro302Gln)	MSR1 (P302Q +1 more)	Single nucleotide variant (missense variant)	Ovarian cancer	GLikely pathogenic
Select item 2445304	NM_138715.3(MSR1):c.482C>A (p.Thr161Asn)	MSR1 (T161N +1 more)	Single nucleotide variant (missense variant)	Ovarian cancer	GBenign
Select item 2445297	NM_138715.3(MSR1):c.833C>T (p.Pro278Leu)	MSR1 (P278L +1 more)	Single nucleotide variant (missense variant)	Ovarian cancer	GBenign
Select item 2445261	NM_138715.3(MSR1):c.10T>A (p.Trp4Arg)	MSR1 (W22R +1 more)	Single nucleotide variant (missense variant)	Ovarian cancer	GBenign
Select item 2431546	NM_138715.3(MSR1):c.217G>A (p.Ala73Thr)	MSR1 (A73T +1 more)	Single nucleotide variant (missense variant)	Barrett esophagus	GUncertain significance
Select item 2403065	NM_138715.3(MSR1):c.581T>C (p.Ile194Thr)	MSR1 (I194T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393745	NM_138715.3(MSR1):c.391A>G (p.Met131Val)	MSR1 (M131V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388441	NM_138715.3(MSR1):c.794T>C (p.Leu265Ser)	MSR1 (L283S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381634	NM_138715.3(MSR1):c.377A>G (p.Gln126Arg)	MSR1 (Q144R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376855	NM_138715.3(MSR1):c.638G>A (p.Ser213Asn)	MSR1 (S231N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332402	NM_138715.3(MSR1):c.1156G>A (p.Val386Ile)	MSR1 (V386I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2330054	NM_138715.3(MSR1):c.1312G>C (p.Ala438Pro)	MSR1 (A438P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328631	NM_138715.3(MSR1):c.197C>G (p.Pro66Arg)	MSR1 (P66R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320636	NM_138715.3(MSR1):c.1151G>T (p.Gly384Val)	MSR1 (G402V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2306458	NM_138715.3(MSR1):c.913A>G (p.Lys305Glu)	MSR1 (K305E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300455	NM_138715.3(MSR1):c.661A>G (p.Asn221Asp)	MSR1 (N221D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258841	NM_138715.3(MSR1):c.293C>T (p.Thr98Met)	MSR1 (T116M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2251368	NM_138715.3(MSR1):c.285A>C (p.Gln95His)	MSR1 (Q113H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226249	NM_138715.3(MSR1):c.1205C>T (p.Ala402Val)	MSR1 (A402V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2223112	NM_138715.3(MSR1):c.1082G>C (p.Gly361Ala)	MSR1 (G361A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2222112	NM_138715.3(MSR1):c.368A>G (p.Lys123Arg)	MSR1 (K141R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219937	NM_138715.3(MSR1):c.700G>A (p.Val234Met)	MSR1 (V252M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2075747	NM_138715.3(MSR1):c.1034-19_1034-10del	MSR1	Deletion (intron variant)	not provided	GLikely benign
Select item 1809214	GRCh37/hg19 8p22(chr8:16024179-16418370)x3	MSR1	Copy number gain	not provided	GUncertain significance
Select item 1808182	GRCh37/hg19 8p22(chr8:15071971-16717799)x1	MSR1, SGCZ +1 more	Copy number loss	not provided	GUncertain significance
Select item 1807751	GRCh37/hg19 8p23.3-22(chr8:158049-18936715)x1	ZNF705B, ZNF705D +93 more	Copy number loss	not provided	GPathogenic
Select item 1711134	Single allele	ADAM32, ADAM7 +250 more	Complex	See cases	GPathogenic
Select item 1707427	GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1	ADAM28, ADAM7 +180 more	Copy number loss	See cases	GPathogenic
Select item 1703665	Single allele	ASAH1-AS1, ASH2L +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527422	GRCh37/hg19 8p22-21.3(chr8:15935542-19321304)	ASAH1, ASAH1-AS1 +17 more	Copy number gain	not specified	GUncertain significance
Select item 1049297	NM_138715.3(MSR1):c.919G>T (p.Asp307Tyr)	MSR1 (D307Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1012376	GRCh37/hg19 8p22(chr8:15721096-16208574)x3	MSR1	Copy number gain	See cases	GUncertain significance
Select item 997076	GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	AP3M2, FAM86B1 +252 more	Copy number gain	Abnormal fetal cardiovascular morphology	GPathogenic
Select item 980854	GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3	ADAM28, ADAM7 +104 more	Copy number gain	not provided	GLikely pathogenic
Select item 782854	NM_138715.3(MSR1):c.1034-15_1034-10del	MSR1	Deletion (intron variant)	not provided	GLikely benign
Select item 782031	NM_138715.3(MSR1):c.1128C>T (p.Asp376=)	MSR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 778941	NM_138715.3(MSR1):c.1038A>G (p.Pro346=)	MSR1	Single nucleotide variant (synonymous variant +1 more)	MSR1-related condition +1 more	GBenign
Select item 773758	NM_138715.3(MSR1):c.630+3A>G	MSR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 747968	NM_138715.3(MSR1):c.103+1G>T	MSR1	Single nucleotide variant (splice donor variant)	MSR1-related condition +1 more	GLikely benign
Select item 746739	NM_138715.3(MSR1):c.1034-8C>A	MSR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 729324	NM_138715.3(MSR1):c.542T>A (p.Ile181Lys)	MSR1 (I199K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 714511	NM_138715.3(MSR1):c.1014G>A (p.Lys338=)	MSR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 714374	NM_138715.3(MSR1):c.1033+10T>C	MSR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 712059	NM_138715.3(MSR1):c.1194C>T (p.Ala398=)	MSR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	MICU3, MIR1234 +665 more	Copy number gain	not provided	GPathogenic
Select item 685432	GRCh37/hg19 8p22(chr8:14515179-16846319)x3	MSR1, SGCZ +1 more	Copy number gain	not provided	GUncertain significance
Select item 626288	Single allele	ADAM28, ADAM7 +124 more	Duplication	not provided	GLikely pathogenic
Select item 624504	GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3	ADAM28, ADAM7 +123 more	Copy number gain	not provided	GLikely pathogenic
Select item 624315	NM_138715.3(MSR1):c.818-1G>A	MSR1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 563554	GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3	ADAM28, ADAM7 +124 more	Copy number gain	not provided	GPathogenic
Select item 563553	GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3	ADAM28, ADAM7 +136 more	Copy number gain	not provided	GPathogenic
Select item 563552	GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3	ADAM28, ADAM7 +111 more	Copy number gain	not provided	GPathogenic
Select item 563532	GRCh37/hg19 8p22(chr8:13587890-16409759)x1	MSR1, SGCZ +1 more	Copy number loss	not provided	GUncertain significance
Select item 523288	GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329)	ADAM28, ADAM7 +77 more	Copy number gain	Intellectual disability, mild +7 more	GPathogenic
Select item 502674	NM_138715.3(MSR1):c.1033+1G>C	MSR1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 443715	GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3	ADAM28, ADAM7 +129 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	PPP1R16A, PPP1R42 +593 more	Copy number gain	See cases	GPathogenic
Select item 443194	GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3	ADAM32, ADAM18 +186 more	Copy number gain	See cases	GPathogenic

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