LOC126860342[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	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 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 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 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	TNFRSF10A, TNFRSF10A-DT +920 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 154680	GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1	ADAM28, ADAM7 +532 more	Copy number loss	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC130000156, LOC130000157 +3106 more	Copy number gain	See cases	GPathogenic
Select item 146887	GRCh38/hg38 8p21.2-12(chr8:24910364-31196357)x1	ADRA1A, BNIP3L +259 more	Copy number loss	See cases	GPathogenic
Select item 60359	GRCh38/hg38 8p21.2-12(chr8:24910364-31210737)x1	ADRA1A, BNIP3L +259 more	Copy number loss	See cases	GPathogenic
Select item 149021	GRCh38/hg38 8p21.2-12(chr8:25171103-31750600)x1	LOC124153126, LOC124153127 +257 more	Copy number loss	See cases	GPathogenic
Select item 57237	GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3	ADAM18, ADAM2 +591 more	Copy number gain	See cases	GPathogenic
Select item 147723	GRCh38/hg38 8p12-11.21(chr8:29362097-40231708)x1	ADAM18, ADAM2 +286 more	Copy number loss	See cases	GPathogenic
Select item 57312	GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3	ADAM18, ADAM2 +417 more	Copy number gain	See cases	GPathogenic
Select item 151191	GRCh38/hg38 8p12(chr8:30368765-36421541)x3	DUSP26, FUT10 +83 more	Copy number gain	See cases	GUncertain significance
Select item 153989	GRCh38/hg38 8p12(chr8:30958352-32189009)x3	LOC114004413, LOC126860342 +10 more	Copy number gain	See cases	GLikely benign
Select item 665630	NC_000008.10:g.(?_30915954)_(31030628_?)dup	WRN, LOC126860342	Duplication	Werner syndrome	GUncertain significance
Select item 528220	NC_000008.10:g.(?_30915958)_(31030624_?)dup	LOC126860342, WRN	Duplication	Werner syndrome	GUncertain significance
Select item 1275987	NM_000553.6(WRN):c.4192-236A>C	LOC126860342, WRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1684232	NM_000553.6(WRN):c.4192-39T>C	LOC126860342, WRN	Single nucleotide variant (intron variant)	Werner syndrome	GBenign
Select item 1564737	NM_000553.6(WRN):c.4192-15_4192-12del	WRN, LOC126860342	Microsatellite (intron variant)	Werner syndrome	GLikely benign
Select item 2048860	NM_000553.6(WRN):c.4192-18T>C	LOC126860342, WRN	Single nucleotide variant (intron variant)	Werner syndrome	GLikely benign
Select item 1539642	NM_000553.6(WRN):c.4192-14dup	LOC126860342, WRN	Duplication (intron variant)	Werner syndrome	GLikely benign
Select item 2108395	NM_000553.6(WRN):c.4192-16T>A	LOC126860342, WRN	Single nucleotide variant (intron variant)	Werner syndrome	GLikely benign
Select item 2036239	NM_000553.6(WRN):c.4192-13C>G	LOC126860342, WRN	Single nucleotide variant (intron variant)	Werner syndrome	GLikely benign
Select item 1619953	NM_000553.6(WRN):c.4192-13C>A	LOC126860342, WRN	Single nucleotide variant (intron variant)	Werner syndrome	GLikely benign
Select item 1545030	NM_000553.6(WRN):c.4192-11A>G	LOC126860342, WRN	Single nucleotide variant (intron variant)	Werner syndrome	GLikely benign
Select item 645370	NC_000008.11:g.(?_31172985)_(31173112_?)del	WRN, LOC126860342	Deletion	Werner syndrome	GUncertain significance
Select item 2770932	NM_000553.6(WRN):c.4192-9T>C	LOC126860342, WRN	Single nucleotide variant (intron variant)	Werner syndrome	GLikely benign
Select item 760506	NM_000553.6(WRN):c.4192-4A>G	LOC126860342, WRN	Single nucleotide variant (intron variant)	Werner syndrome	GLikely benign
Select item 1063309	NM_000553.6(WRN):c.4192-3C>T	LOC126860342, WRN	Single nucleotide variant (intron variant)	Werner syndrome	GUncertain significance
Select item 1008298	NM_000553.6(WRN):c.4192-3C>A	LOC126860342, WRN	Single nucleotide variant (intron variant)	Werner syndrome	GUncertain significance
Select item 1474364	NM_000553.6(WRN):c.4192-2A>T	LOC126860342, WRN	Single nucleotide variant (splice acceptor variant)	Werner syndrome	GUncertain significance
Select item 1720772	NM_000553.6(WRN):c.4192A>G (p.Thr1398Ala)	LOC126860342, WRN (T1398A)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 528092	NM_000553.6(WRN):c.4193C>T (p.Thr1398Ile)	LOC126860342, WRN (T1398I)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 764220	NM_000553.6(WRN):c.4194T>G (p.Thr1398=)	LOC126860342, WRN	Single nucleotide variant (synonymous variant)	Werner syndrome	GLikely benign
Select item 2978763	NM_000553.6(WRN):c.4196C>T (p.Ser1399Leu)	LOC126860342, WRN (S1399L)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 1153280	NM_000553.6(WRN):c.4197A>T (p.Ser1399=)	LOC126860342, WRN	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2714602	NM_000553.6(WRN):c.4198T>G (p.Ser1400Ala)	LOC126860342, WRN (S1400A)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 528218	NM_000553.6(WRN):c.4200T>G (p.Ser1400=)	LOC126860342, WRN	Single nucleotide variant (synonymous variant)	Werner syndrome	GLikely benign
Select item 2051482	NM_000553.6(WRN):c.4201G>A (p.Ala1401Thr)	LOC126860342, WRN (A1401T)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 238165	NM_000553.6(WRN):c.4203A>G (p.Ala1401=)	LOC126860342, WRN	Single nucleotide variant (synonymous variant)	Werner syndrome	GLikely benign
Select item 1062867	NM_000553.6(WRN):c.4210_4215del (p.Lys1404_Arg1405del)	LOC126860342, WRN	Deletion (inframe_deletion)	Werner syndrome	GUncertain significance
Select item 1052996	NM_000553.6(WRN):c.4210_4213del (p.Lys1404fs)	LOC126860342, WRN (K1404fs)	Deletion (frameshift variant)	Werner syndrome	GUncertain significance
Select item 2742814	NM_000553.6(WRN):c.4208G>T (p.Arg1403Ile)	LOC126860342, WRN (R1403I)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 1101117	NM_000553.6(WRN):c.4213A>C (p.Arg1405=)	LOC126860342, WRN	Single nucleotide variant (synonymous variant)	Werner syndrome	GLikely benign
Select item 1504216	NM_000553.6(WRN):c.4217_4222del (p.Arg1406_Leu1407del)	LOC126860342, WRN	Deletion (inframe_deletion)	Werner syndrome	GUncertain significance
Select item 135443	NM_000553.6(WRN):c.4216C>T (p.Arg1406Ter)	LOC126860342, WRN (R1406*)	Single nucleotide variant (nonsense)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1059963	NM_000553.6(WRN):c.4217G>C (p.Arg1406Pro)	LOC126860342, WRN (R1406P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 528143	NM_000553.6(WRN):c.4217G>A (p.Arg1406Gln)	LOC126860342, WRN (R1406Q)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 2837286	NM_000553.6(WRN):c.4219_4220dup (p.Leu1407fs)	LOC126860342, WRN (L1407fs)	Duplication (frameshift variant)	Werner syndrome	GLikely benign
Select item 2196324	NM_000553.6(WRN):c.4218A>G (p.Arg1406=)	LOC126860342, WRN	Single nucleotide variant (synonymous variant)	Werner syndrome	GLikely benign
Select item 1152818	NM_000553.6(WRN):c.4219T>C (p.Leu1407=)	LOC126860342, WRN	Single nucleotide variant (synonymous variant)	Werner syndrome	GLikely benign
Select item 957603	NM_000553.6(WRN):c.4223C>T (p.Pro1408Leu)	LOC126860342, WRN (P1408L)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 1125675	NM_000553.6(WRN):c.4224T>G (p.Pro1408=)	LOC126860342, WRN	Single nucleotide variant (synonymous variant)	Werner syndrome	GLikely benign
Select item 569481	NM_000553.6(WRN):c.4225G>A (p.Val1409Met)	LOC126860342, WRN (V1409M)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 2756509	NM_000553.6(WRN):c.4226T>G (p.Val1409Gly)	LOC126860342, WRN (V1409G)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 2005162	NM_000553.6(WRN):c.4226T>C (p.Val1409Ala)	LOC126860342, WRN (V1409A)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 1345771	NM_000553.6(WRN):c.4228T>C (p.Trp1410Arg)	LOC126860342, WRN (W1410R)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 528122	NM_000553.6(WRN):c.4229G>T (p.Trp1410Leu)	LOC126860342, WRN (W1410L)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 458480	NM_000553.6(WRN):c.4231T>C (p.Phe1411Leu)	LOC126860342, WRN (F1411L)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 2161975	NM_000553.6(WRN):c.4236C>G (p.Ala1412=)	LOC126860342, WRN	Single nucleotide variant (synonymous variant)	Werner syndrome	GLikely benign
Select item 1524013	NM_000553.6(WRN):c.4240G>A (p.Gly1414Arg)	LOC126860342, WRN (G1414R)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 1478926	NM_000553.6(WRN):c.4240G>C (p.Gly1414Arg)	LOC126860342, WRN (G1414R)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 1674251	NM_000553.6(WRN):c.4242A>G (p.Gly1414=)	LOC126860342, WRN	Single nucleotide variant (synonymous variant)	Werner syndrome	GLikely benign
Select item 1375443	NM_000553.6(WRN):c.4243A>G (p.Ser1415Gly)	LOC126860342, WRN (S1415G)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 2119178	NM_000553.6(WRN):c.4244G>A (p.Ser1415Asn)	LOC126860342, WRN (S1415N)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 934784	NM_000553.6(WRN):c.4245dup (p.Asp1416Ter)	LOC126860342, WRN (D1416*)	Duplication (nonsense)	Werner syndrome	GLikely benign
Select item 238166	NM_000553.6(WRN):c.4248T>C (p.Asp1416=)	LOC126860342, WRN	Single nucleotide variant (synonymous variant)	Werner syndrome +1 more	GBenign/Likely benign
Select item 1982784	NM_000553.6(WRN):c.4250C>G (p.Thr1417Ser)	LOC126860342, WRN (T1417S)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 1043704	NM_000553.6(WRN):c.4250C>A (p.Thr1417Asn)	LOC126860342, WRN (T1417N)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 696267	NM_000553.6(WRN):c.4251C>T (p.Thr1417=)	LOC126860342, WRN	Single nucleotide variant (synonymous variant)	Werner syndrome +1 more	GLikely benign
Select item 1929910	NM_000553.6(WRN):c.4254C>T (p.Ser1418=)	LOC126860342, WRN	Single nucleotide variant (synonymous variant)	Werner syndrome	GLikely benign
Select item 1489627	NM_000553.6(WRN):c.4256A>G (p.Lys1419Arg)	LOC126860342, WRN (K1419R)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 458481	NM_000553.6(WRN):c.4256A>C (p.Lys1419Thr)	LOC126860342, WRN (K1419T)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 2632224	NM_000553.6(WRN):c.4259A>G (p.Lys1420Arg)	LOC126860342, WRN (K1420R)	Single nucleotide variant (missense variant)	WRN-related disorder	GUncertain significance
Select item 1572352	NM_000553.6(WRN):c.4263A>G (p.Leu1421=)	LOC126860342, WRN	Single nucleotide variant (synonymous variant)	Werner syndrome	GLikely benign
Select item 2115076	NM_000553.6(WRN):c.4271A>G (p.Lys1424Arg)	LOC126860342, WRN (K1424R)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 579172	NM_000553.6(WRN):c.4274C>T (p.Thr1425Met)	LOC126860342, WRN (T1425M)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance

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