7486[geneid] - 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	LOC130000015, LOC130000016 +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	DEFA1B, DEFA3 +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	ADAM28, ADAM7 +1103 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	LOC110121192, LOC110121196 +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	AARD, ABRA +3652 more	Copy number gain	See cases	GPathogenic
Select item 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC129999981, LOC129999982 +996 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	LOC130000067, LOC130000068 +3656 more	Copy number gain	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	LOC129999803, LOC129999804 +1018 more	Copy number gain	See cases	GPathogenic
Select item 150733	GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3	LOC129999922, LOC129999923 +694 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	LOC130000263, LOC130000264 +935 more	Copy number gain	See cases	GPathogenic
Select item 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	ADAM18, ADAM2 +932 more	Copy number gain	See cases	GPathogenic
Select item 57442	GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3	LOC132089594, LOC132089595 +663 more	Copy number gain	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	ADAM18, ADAM2 +868 more	Copy number gain	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	LOC130000231, LOC130000232 +927 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC126860340, LOC126860341 +927 more	Copy number gain	See cases	GPathogenic
Select item 59763	GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3	LOC130000118, LOC130000119 +703 more	Copy number gain	See cases	GPathogenic
Select item 34276	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC130000005, LOC130000006 +868 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	LOC121740715, LOC124049166 +816 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC130000093, LOC130000094 +927 more	Copy number gain	See cases	GPathogenic
Select item 148997	GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3	LOC124153130, LOC124153131 +651 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +920 more	Copy number gain	See cases	GPathogenic
Select item 147303	GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	LOC130000259, LOC130000260 +805 more	Copy number gain	See cases	GPathogenic
Select item 57410	GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3	LOC129999968, LOC129999969 +855 more	Copy number gain	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC130000066, LOC130000067 +920 more	Copy number gain	See cases	GPathogenic
Select item 150985	GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	LOC130000067, LOC130000068 +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	GPAT4, GPAT4-AS1 +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	LOC110121196, LOC110121233 +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	LOC126860374, LOC126860375 +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 362771	NM_001323311.2(PURG):c.-280C>G	LOC130000177, PURG +1 more	Single nucleotide variant (5 prime UTR variant)	Werner syndrome	GUncertain significance
Select item 362772	NM_000553.5(WRN):c.-683G>T	LOC130000177, WRN	Single nucleotide variant	Werner syndrome	GUncertain significance
Select item 362773	NM_000553.5(WRN):c.-677G>T	LOC130000177, WRN	Single nucleotide variant	Werner syndrome	GUncertain significance
Select item 362774	NM_000553.5(WRN):c.-636G>C	WRN	Single nucleotide variant	Werner syndrome	GUncertain significance
Select item 910942	NM_000553.5(WRN):c.-631G>C	WRN	Single nucleotide variant	Werner syndrome	GLikely benign
Select item 362775	NM_000553.5(WRN):c.-618C>G	WRN	Single nucleotide variant	Werner syndrome	GBenign
Select item 362776	NM_000553.5(WRN):c.-605C>A	WRN	Single nucleotide variant	Werner syndrome	GUncertain significance
Select item 362777	NM_000553.5(WRN):c.-519C>A	WRN	Single nucleotide variant	Werner syndrome	GUncertain significance
Select item 362778	NM_000553.5(WRN):c.-437C>T	WRN	Single nucleotide variant	Werner syndrome	GUncertain significance
Select item 362779	NM_000553.5(WRN):c.-408C>T	WRN	Single nucleotide variant	Werner syndrome	GBenign
Select item 362780	NM_000553.5(WRN):c.-380G>A	WRN	Single nucleotide variant	Werner syndrome	GUncertain significance
Select item 362781	NM_000553.5(WRN):c.-297dup	WRN	Duplication	Werner syndrome	GUncertain significance
Select item 362782	NM_000553.5(WRN):c.-295_-294insG	WRN	Insertion	Werner syndrome	GUncertain significance
Select item 362783	NM_000553.5(WRN):c.-289dup	WRN	Duplication	Werner syndrome	GUncertain significance
Select item 362784	NM_000553.5(WRN):c.-289delG	WRN	Deletion	Werner syndrome	GUncertain significance
Select item 362785	NM_000553.5(WRN):c.-284dup	WRN	Duplication	Werner syndrome	GUncertain significance
Select item 362786	NM_000553.5(WRN):c.-278G>C	WRN	Single nucleotide variant	Werner syndrome	GBenign
Select item 362787	NM_000553.6(WRN):c.-240G>A	WRN	Single nucleotide variant (5 prime UTR variant)	Werner syndrome	GUncertain significance
Select item 362788	NM_000553.6(WRN):c.-234T>A	WRN	Single nucleotide variant (5 prime UTR variant)	Werner syndrome	GUncertain significance
Select item 362789	NM_000553.6(WRN):c.-213G>A	WRN	Single nucleotide variant (5 prime UTR variant)	Werner syndrome	GBenign
Select item 362790	NM_000553.6(WRN):c.-209T>G	WRN	Single nucleotide variant (5 prime UTR variant)	Werner syndrome	GUncertain significance
Select item 362791	NM_000553.6(WRN):c.-197C>T	WRN	Single nucleotide variant (5 prime UTR variant)	Werner syndrome	GUncertain significance
Select item 362792	NM_000553.6(WRN):c.-163C>G	WRN	Single nucleotide variant (5 prime UTR variant)	Werner syndrome	GBenign
Select item 362793	NM_000553.6(WRN):c.-152G>A	WRN	Single nucleotide variant (5 prime UTR variant)	Werner syndrome	GUncertain significance
Select item 912164	NM_000553.6(WRN):c.-135G>C	WRN	Single nucleotide variant (5 prime UTR variant)	Werner syndrome	GUncertain significance
Select item 908156	NM_000553.6(WRN):c.-121C>G	WRN	Single nucleotide variant (5 prime UTR variant)	Werner syndrome	GUncertain significance
Select item 1286012	NM_000553.6(WRN):c.-76-261G>A	WRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250354	NM_000553.6(WRN):c.-76-214A>C	WRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 362794	NM_000553.6(WRN):c.-37A>G	WRN	Single nucleotide variant (5 prime UTR variant)	Werner syndrome	GUncertain significance
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 2766120	NM_000553.6(WRN):c.1A>G (p.Met1Val)	WRN (M1V)	Single nucleotide variant (missense variant +1 more)	Werner syndrome	GUncertain significance
Select item 1473754	NM_000553.6(WRN):c.6T>G (p.Ser2Arg)	WRN (S2R)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 1070898	NM_000553.6(WRN):c.15dup (p.Leu6fs)	WRN (L6fs)	Duplication (frameshift variant)	Werner syndrome	GPathogenic
Select item 238124	NM_000553.6(WRN):c.15del (p.Lys5fs)	WRN (K5fs)	Deletion (frameshift variant)	Werner syndrome	GPathogenic/Likely pathogenic
Select item 1081594	NM_000553.6(WRN):c.12A>G (p.Lys4=)	WRN	Single nucleotide variant (synonymous variant)	Werner syndrome	GLikely benign
Select item 528099	NM_000553.6(WRN):c.16T>A (p.Leu6Met)	WRN (L6M)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 238126	NM_000553.6(WRN):c.16T>C (p.Leu6=)	WRN	Single nucleotide variant (synonymous variant)	Werner syndrome	GConflicting classifications of pathogenicity
Select item 1574586	NM_000553.6(WRN):c.18G>A (p.Leu6=)	WRN	Single nucleotide variant (synonymous variant)	Werner syndrome	GLikely benign
Select item 2880289	NM_000553.6(WRN):c.20A>T (p.Glu7Val)	WRN (E7V)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 1452051	NM_000553.6(WRN):c.22del (p.Thr8fs)	WRN (T8fs)	Deletion (frameshift variant)	Werner syndrome	GPathogenic
Select item 2748376	NM_000553.6(WRN):c.21A>G (p.Glu7=)	WRN	Single nucleotide variant (synonymous variant)	Werner syndrome	GLikely benign
Select item 2145847	NM_000553.6(WRN):c.24A>C (p.Thr8=)	WRN	Single nucleotide variant (synonymous variant)	Werner syndrome	GLikely benign
Select item 458425	NM_000553.6(WRN):c.25A>G (p.Thr9Ala)	WRN (T9A)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 852968	NM_000553.6(WRN):c.26C>T (p.Thr9Ile)	WRN (T9I)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 2875262	NM_000553.6(WRN):c.27T>C (p.Thr9=)	WRN	Single nucleotide variant (synonymous variant)	Werner syndrome	GLikely benign
Select item 2090594	NM_000553.6(WRN):c.28G>A (p.Ala10Thr)	WRN (A10T)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 1007438	NM_000553.6(WRN):c.29C>T (p.Ala10Val)	WRN (A10V)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 2909555	NM_000553.6(WRN):c.30A>C (p.Ala10=)	WRN	Single nucleotide variant (synonymous variant)	Werner syndrome	GLikely benign
Select item 2861025	NM_000553.6(WRN):c.30A>T (p.Ala10=)	WRN	Single nucleotide variant (synonymous variant)	Werner syndrome	GLikely benign
Select item 1385909	NM_000553.6(WRN):c.31C>T (p.Gln11Ter)	WRN (Q11*)	Single nucleotide variant (nonsense)	Werner syndrome	GPathogenic
Select item 576909	NM_000553.6(WRN):c.32A>C (p.Gln11Pro)	WRN (Q11P)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 1152800	NM_000553.6(WRN):c.33G>A (p.Gln11=)	WRN	Single nucleotide variant (synonymous variant)	Werner syndrome	GLikely benign
Select item 2010418	NM_000553.6(WRN):c.35A>C (p.Gln12Pro)	WRN (Q12P)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 664926	NM_000553.6(WRN):c.37C>T (p.Arg13Trp)	WRN (R13W)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 2679609	NM_000553.6(WRN):c.39_40dup (p.Lys14fs)	WRN (K14fs)	Duplication (frameshift variant)	Werner syndrome	GLikely pathogenic
Select item 864248	NM_000553.6(WRN):c.38G>A (p.Arg13Gln)	WRN (R13Q)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 458483	NM_000553.6(WRN):c.42A>G (p.Lys14=)	WRN	Single nucleotide variant (synonymous variant)	Werner syndrome	GLikely benign
Select item 1006554	NM_000553.6(WRN):c.43T>A (p.Cys15Ser)	WRN (C15S)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 967641	NM_000553.6(WRN):c.47C>T (p.Pro16Leu)	WRN (P16L)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 1063909	NM_000553.6(WRN):c.58A>G (p.Asn20Asp)	WRN (N20D)	Single nucleotide variant (missense variant)	Werner syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1510469	NM_000553.6(WRN):c.59A>G (p.Asn20Ser)	WRN (N20S)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance

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