4481[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 168

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 152917	GRCh38/hg38 8p23.3-22(chr8:226452-16280146)x3	AGPAT5, ANGPT2 +448 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC129999850, LOC129999851 +1038 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	LOC126860345, LOC126860346 +1103 more	Copy number gain	See cases	GPathogenic
Select item 146718	GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3	AGPAT5, ANGPT2 +687 more	Copy number gain	See cases	GPathogenic
Select item 59739	GRCh38/hg38 8p23.3-22(chr8:241530-17678697)x3	AGPAT5, ANGPT2 +471 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860501, LOC126860502 +3652 more	Copy number gain	See cases	GPathogenic
Select item 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC130000150, LOC130000151 +996 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 146786	GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3	ADAM28, ADAM7 +736 more	Copy number gain	See cases	GPathogenic
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 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	MIR4660, MIR548H4 +773 more	Copy number loss	See cases	GPathogenic
Select item 32400	GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1	ADAM28, ADAM7 +773 more	Copy number loss	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	DUSP4, EBF2 +1018 more	Copy number gain	See cases	GPathogenic
Select item 150733	GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3	ADAM28, ADAM7 +694 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	ADAM18, ADAM2 +935 more	Copy number gain	See cases	GPathogenic
Select item 149191	GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3	ADAM28, ADAM7 +499 more	Copy number gain	See cases	GPathogenic
Select item 154449	GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1	LOC132089588, LOC132089589 +510 more	Copy number loss	See cases	GPathogenic
Select item 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	LOC130000086, LOC130000087 +932 more	Copy number gain	See cases	GPathogenic
Select item 57442	GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3	ADAM28, ADAM7 +663 more	Copy number gain	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC121331299, LOC121331300 +868 more	Copy number gain	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	ADAM18, ADAM2 +927 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC130000305, LOC130000306 +927 more	Copy number gain	See cases	GPathogenic
Select item 59763	GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3	ADAM28, ADAM7 +703 more	Copy number gain	See cases	GPathogenic
Select item 34276	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC130000069, LOC130000070 +868 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	ADAM18, ADAM2 +816 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC130000275, LOC130000276 +927 more	Copy number gain	See cases	GPathogenic
Select item 148997	GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3	ADAM28, ADAM7 +651 more	Copy number gain	See cases	GPathogenic
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 147664	GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3	ADAM28, ADAM7 +567 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC101929258, LOC101929470 +920 more	Copy number gain	See cases	GPathogenic
Select item 147303	GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	LOC113788273, LOC113788274 +805 more	Copy number gain	See cases	GPathogenic
Select item 57410	GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3	LOC129999948, LOC129999949 +855 more	Copy number gain	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +920 more	Copy number gain	See cases	GPathogenic
Select item 150985	GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	LOC130000249, LOC130000250 +789 more	Copy number gain	See cases	GPathogenic
Select item 145968	GRCh38/hg38 8p23.1-21.3(chr8:12732530-20436882)x3	ASAH1, ASAH1-AS1 +144 more	Copy number gain	See cases	GPathogenic
Select item 59767	GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3	ADAM28, ADAM7 +523 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	TNFRSF10A, TNFRSF10A-DT +920 more	Copy number gain	See cases	GPathogenic
Select item 59768	GRCh38/hg38 8p23.1-21.3(chr8:12787272-20952389)x3	ASAH1, ASAH1-AS1 +140 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	ADAM18, ADAM2 +898 more	Copy number gain	See cases	GPathogenic
Select item 146694	GRCh38/hg38 8p22(chr8:15424539-16122483)x3	LOC129389958, MSR1 +1 more	Copy number gain	See cases	GUncertain significance
Select item 153146	GRCh38/hg38 8p22(chr8:15784703-16404943)x3	LOC129389958, MSR1 +1 more	Copy number gain	See cases	GLikely benign
Select item 148647	GRCh38/hg38 8p22(chr8:15792228-16383519)x3	LOC129389958, MSR1 +1 more	Copy number gain	See cases	GUncertain significance
Select item 150262	GRCh38/hg38 8p22(chr8:15814811-16351065)x3	LOC129389958, MSR1 +1 more	Copy number gain	See cases	GLikely benign
Select item 160964	GRCh38/hg38 8p22(chr8:15814812-16351017)x3	LOC129389958, MSR1 +1 more	Copy number gain	See cases	GUncertain significance
Select item 34431	GRCh38/hg38 8p22(chr8:15814812-16351017)x3	LOC129389958, MSR1 +1 more	Copy number gain	See cases	GUncertain significance
Select item 148913	GRCh38/hg38 8p22(chr8:15843813-16471695)x3	LOC129389958, MSR1 +1 more	Copy number gain	See cases	GLikely benign
Select item 153477	GRCh38/hg38 8p22(chr8:16016852-16217064)x1	MSR1	Copy number loss	See cases	GUncertain significance
Select item 221721	GRCh38/hg38 8p22(chr8:16081832-16163959)x1	MSR1	Copy number loss	Premature ovarian failure	GBenign
Select item 157101	Single allele	MSR1	Deletion	Large for gestational age +1 more	Gnot provided
Select item 144950	GRCh38/hg38 8p22(chr8:16094502-16164176)x1	MSR1	Copy number loss	See cases	GBenign/Likely benign
Select item 58960	GRCh38/hg38 8p22(chr8:16095273-16164235)x1	MSR1	Copy number loss	See cases	GUncertain significance
Select item 2599786	NM_138715.3(MSR1):c.1334C>G (p.Ala445Gly)	MSR1 (A445G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330054	NM_138715.3(MSR1):c.1312G>C (p.Ala438Pro)	MSR1 (A438P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212099	NM_138715.3(MSR1):c.1294C>T (p.Arg432Trp)	MSR1 (R369W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2544768	NM_138715.3(MSR1):c.1219C>G (p.Gln407Glu)	MSR1 (Q407E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
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 2332402	NM_138715.3(MSR1):c.1156G>A (p.Val386Ile)	MSR1 (V386I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
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 2486364	NM_138715.3(MSR1):c.1124G>A (p.Cys375Tyr)	MSR1 (C375Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3060145	NM_138715.3(MSR1):c.1086G>A (p.Arg362=)	MSR1	Single nucleotide variant (synonymous variant +1 more)	MSR1-related disorder	GBenign
Select item 2223112	NM_138715.3(MSR1):c.1082G>C (p.Gly361Ala)	MSR1 (G361A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 778941	NM_138715.3(MSR1):c.1038A>G (p.Pro346=)	MSR1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 746739	NM_138715.3(MSR1):c.1034-8C>A	MSR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3042130	NM_138715.3(MSR1):c.1034-17_1034-10del	MSR1	Deletion (intron variant)	MSR1-related disorder	GBenign
Select item 2075747	NM_138715.3(MSR1):c.1034-19_1034-10del	MSR1	Deletion (intron variant)	not provided	GLikely benign
Select item 782854	NM_138715.3(MSR1):c.1034-15_1034-10del	MSR1	Deletion (intron variant)	not provided	GLikely benign
Select item 2776135	NM_138715.3(MSR1):c.1034-11del	MSR1	Deletion (intron 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 502674	NM_138715.3(MSR1):c.1033+1G>C	MSR1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 714511	NM_138715.3(MSR1):c.1014G>A (p.Lys338=)	MSR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2612317	NM_138715.3(MSR1):c.926G>A (p.Gly309Glu)	MSR1 (G327E +1 more)	Single nucleotide variant (missense variant)	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 2306458	NM_138715.3(MSR1):c.913A>G (p.Lys305Glu)	MSR1 (K305E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3212167	NM_138715.3(MSR1):c.880G>A (p.Gly294Arg)	MSR1 (G294R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 14357	NM_138715.3(MSR1):c.877C>T (p.Arg293Ter)	MSR1 (R293* +1 more)	Single nucleotide variant (nonsense)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 2491138	NM_138715.3(MSR1):c.857C>T (p.Pro286Leu)	MSR1 (P304L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212161	NM_138715.3(MSR1):c.854G>T (p.Gly285Val)	MSR1 (G285V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 624315	NM_138715.3(MSR1):c.818-1G>A	MSR1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2388441	NM_138715.3(MSR1):c.794T>C (p.Leu265Ser)	MSR1 (L283S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 29779	NM_138715.3(MSR1):c.760C>G (p.Leu254Val)	MSR1 (L254V +1 more)	Single nucleotide variant (missense variant)	Barrett esophagus/esophageal adenocarcinoma	GPathogenic
Select item 2559371	NM_138715.3(MSR1):c.758A>C (p.Asp253Ala)	MSR1 (D271A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621427	NM_138715.3(MSR1):c.757G>T (p.Asp253Tyr)	MSR1 (D253Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041467	NM_138715.3(MSR1):c.732G>A (p.Val244=)	MSR1	Single nucleotide variant (synonymous variant)	MSR1-related disorder	GLikely benign
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 2219937	NM_138715.3(MSR1):c.700G>A (p.Val234Met)	MSR1 (V252M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600632	NM_138715.3(MSR1):c.691G>A (p.Glu231Lys)	MSR1 (E249K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300455	NM_138715.3(MSR1):c.661A>G (p.Asn221Asp)	MSR1 (N221D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480779	NM_138715.3(MSR1):c.638G>C (p.Ser213Thr)	MSR1 (S213T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376855	NM_138715.3(MSR1):c.638G>A (p.Ser213Asn)	MSR1 (S231N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050003	NM_138715.3(MSR1):c.630+7G>A	MSR1	Single nucleotide variant (intron variant)	MSR1-related disorder	GLikely benign
Select item 773758	NM_138715.3(MSR1):c.630+3A>G	MSR1	Single nucleotide variant (intron variant)	not provided	GBenign

<< First< Prev

Page of 2