55145[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	LOC126860453, LOC126860454 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	CTHRC1, CTSB +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860334, LOC126860335 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	LOC108281171, LOC108281187 +3661 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	ADAM18, ADAM2 +936 more	Copy number gain	See cases	GPathogenic
Select item 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	ADAM18, ADAM2 +933 more	Copy number gain	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	ADAM18, ADAM2 +928 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	ADAM18, ADAM2 +928 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	ADAM18, ADAM2 +928 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM7, ADAM18 +921 more	Copy number gain	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC110121062, LOC110121182 +921 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	LOC130000038, LOC130000039 +921 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	ADAM18, ADAM2 +899 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC130000117, LOC130000118 +3110 more	Copy number gain	See cases	GPathogenic
Select item 57237	GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3	LOC130000094, LOC130000095 +592 more	Copy number gain	See cases	GPathogenic
Select item 57312	GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3	ADAM18, ADAM2 +418 more	Copy number gain	See cases	GPathogenic
Select item 57114	GRCh38/hg38 8p12-11.21(chr8:34312250-43158901)x1	ADAM18, ADAM2 +275 more	Copy number loss	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	ADAM18, ADAM2 +542 more	Copy number gain	See cases	GPathogenic
Select item 59783	GRCh38/hg38 8p11.22-q11.21(chr8:39830633-49209461)x3	ADAM2, ANK1 +183 more	Copy number gain	See cases	GPathogenic
Select item 154596	GRCh38/hg38 8p11.21-11.1(chr8:39960531-43673207)x3	ANK1, AP3M2 +121 more	Copy number gain	See cases	GPathogenic
Select item 59784	GRCh38/hg38 8p11.21-11.1(chr8:39981424-43532444)x3	LOC130000288, LOC130000289 +120 more	Copy number gain	See cases	GPathogenic
Select item 59786	GRCh38/hg38 8p11.21-q11.21(chr8:41845699-47893948)x3	ANK1, AP3M2 +86 more	Copy number gain	See cases	GPathogenic
Select item 59807	GRCh38/hg38 8p11.21-11.1(chr8:42535063-43541633)x3	CHRNA6, CHRNB3 +34 more	Copy number gain	See cases	GBenign
Select item 363106	NM_018105.3(THAP1):c.*1250G>A	THAP1	Single nucleotide variant (3 prime UTR variant)	Torsion dystonia 6	GBenign
Select item 363107	NM_018105.3(THAP1):c.*1235C>A	THAP1	Single nucleotide variant (3 prime UTR variant)	Torsion dystonia 6	GUncertain significance
Select item 363108	NM_018105.3(THAP1):c.*1157A>G	THAP1	Single nucleotide variant (3 prime UTR variant)	Torsion dystonia 6	GBenign
Select item 908574	NM_018105.3(THAP1):c.*1138T>A	THAP1	Single nucleotide variant (3 prime UTR variant)	Torsion dystonia 6	GUncertain significance
Select item 363109	NM_018105.3(THAP1):c.*1032G>A	THAP1	Single nucleotide variant (3 prime UTR variant)	Torsion dystonia 6	GUncertain significance
Select item 363110	NM_018105.3(THAP1):c.*999G>A	THAP1	Single nucleotide variant (3 prime UTR variant)	Torsion dystonia 6	GUncertain significance
Select item 909431	NM_018105.3(THAP1):c.*877A>G	THAP1	Single nucleotide variant (3 prime UTR variant)	Torsion dystonia 6	GUncertain significance
Select item 909432	NM_018105.3(THAP1):c.*835A>G	THAP1	Single nucleotide variant (3 prime UTR variant)	Torsion dystonia 6	GUncertain significance
Select item 363111	NM_018105.3(THAP1):c.*803G>A	THAP1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 909433	NM_018105.3(THAP1):c.*795A>G	THAP1	Single nucleotide variant (3 prime UTR variant)	Torsion dystonia 6	GUncertain significance
Select item 909434	NM_018105.3(THAP1):c.*777A>G	THAP1	Single nucleotide variant (3 prime UTR variant)	Torsion dystonia 6	GUncertain significance
Select item 363112	NM_018105.3(THAP1):c.*745G>T	THAP1	Single nucleotide variant (3 prime UTR variant)	Torsion dystonia 6	GBenign
Select item 363113	NM_018105.3(THAP1):c.*686A>G	THAP1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 910380	NM_018105.3(THAP1):c.*598A>G	THAP1	Single nucleotide variant (3 prime UTR variant)	Torsion dystonia 6	GUncertain significance
Select item 363114	NM_018105.3(THAP1):c.*459A>C	THAP1	Single nucleotide variant (3 prime UTR variant)	Torsion dystonia 6	GUncertain significance
Select item 363115	NM_018105.3(THAP1):c.*455A>G	THAP1	Single nucleotide variant (3 prime UTR variant)	Torsion dystonia 6	GBenign
Select item 363116	NM_018105.3(THAP1):c.*434A>G	THAP1	Single nucleotide variant (3 prime UTR variant)	Torsion dystonia 6	GBenign
Select item 363117	NM_018105.3(THAP1):c.*297A>G	THAP1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 363118	NM_018105.3(THAP1):c.*280dup	THAP1	Duplication (3 prime UTR variant)	Dystonic disorder	GUncertain significance
Select item 363119	NM_018105.3(THAP1):c.*245T>C	THAP1	Single nucleotide variant (3 prime UTR variant)	Torsion dystonia 6	GUncertain significance
Select item 363120	NM_018105.3(THAP1):c.*190C>A	THAP1	Single nucleotide variant (3 prime UTR variant)	Torsion dystonia 6	GBenign
Select item 910381	NM_018105.3(THAP1):c.*156A>G	THAP1	Single nucleotide variant (3 prime UTR variant)	Torsion dystonia 6	GUncertain significance
Select item 363121	NM_018105.3(THAP1):c.*141A>G	THAP1	Single nucleotide variant (3 prime UTR variant)	Torsion dystonia 6	GUncertain significance
Select item 911592	NM_018105.3(THAP1):c.*139A>G	THAP1	Single nucleotide variant (3 prime UTR variant)	Torsion dystonia 6	GUncertain significance
Select item 911593	NM_018105.3(THAP1):c.*137C>A	THAP1	Single nucleotide variant (3 prime UTR variant)	Torsion dystonia 6	GUncertain significance
Select item 363122	NM_018105.3(THAP1):c.*135T>A	THAP1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 363123	NM_018105.3(THAP1):c.*127A>T	THAP1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 911594	NM_018105.3(THAP1):c.*126T>A	THAP1	Single nucleotide variant (3 prime UTR variant)	Torsion dystonia 6	GBenign
Select item 363124	NM_018105.3(THAP1):c.*119del	THAP1	Deletion (3 prime UTR variant)	Dystonic disorder	GUncertain significance
Select item 911595	NM_018105.3(THAP1):c.*65G>C	THAP1	Single nucleotide variant (3 prime UTR variant)	Torsion dystonia 6	GBenign
Select item 653514	NC_000008.10:g.(?_42693095)_(42978030_?)dup	FNTA, HOOK3 +11 more	Duplication	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GUncertain significance
Select item 2086986	NM_018105.3(THAP1):c.604C>T (p.Pro202Ser)	THAP1 (P202S)	Single nucleotide variant (missense variant +1 more)	Torsion dystonia 6	GUncertain significance
Select item 695720	NM_018105.3(THAP1):c.601C>T (p.Leu201=)	THAP1	Single nucleotide variant (synonymous variant +1 more)	Torsion dystonia 6	GLikely benign
Select item 2810518	NM_018105.3(THAP1):c.594T>C (p.Tyr198=)	THAP1	Single nucleotide variant (synonymous variant +1 more)	Torsion dystonia 6	GLikely benign
Select item 448686	NM_018105.3(THAP1):c.590G>A (p.Gly197Asp)	THAP1 (G197D)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2732141	NM_018105.3(THAP1):c.586A>G (p.Arg196Gly)	THAP1 (R196G)	Single nucleotide variant (missense variant +1 more)	Torsion dystonia 6	GUncertain significance
Select item 463445	NM_018105.3(THAP1):c.577G>A (p.Val193Ile)	THAP1 (V193I)	Single nucleotide variant (missense variant +1 more)	Torsion dystonia 6 +1 more	GConflicting classifications of pathogenicity
Select item 2026656	NM_018105.3(THAP1):c.576C>T (p.Asp192=)	THAP1	Single nucleotide variant (synonymous variant +1 more)	Torsion dystonia 6	GLikely benign
Select item 444749	NM_018105.3(THAP1):c.574G>A (p.Asp192Asn)	THAP1 (D192N)	Single nucleotide variant (missense variant +1 more)	Torsion dystonia 6 +1 more	GConflicting classifications of pathogenicity
Select item 2579048	NM_018105.3(THAP1):c.573C>T (p.Asp191=)	THAP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2263540	NM_018105.3(THAP1):c.567G>C (p.Glu189Asp)	THAP1 (E189D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1113391	NM_018105.3(THAP1):c.558C>T (p.Phe186=)	THAP1	Single nucleotide variant (synonymous variant +1 more)	Torsion dystonia 6	GLikely benign
Select item 3456011	NM_018105.3(THAP1):c.548T>C (p.Val183Ala)	THAP1 (V183A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1696664	NM_018105.3(THAP1):c.547G>T (p.Val183Phe)	THAP1 (V183F)	Single nucleotide variant (missense variant +1 more)	Torsion dystonia 6	GUncertain significance
Select item 1165509	NM_018105.3(THAP1):c.537A>G (p.Lys179=)	THAP1	Single nucleotide variant (synonymous variant +1 more)	Torsion dystonia 6	GBenign
Select item 2156292	NM_018105.3(THAP1):c.525G>C (p.Arg175=)	THAP1	Single nucleotide variant (synonymous variant +1 more)	Torsion dystonia 6	GLikely benign
Select item 2901544	NM_018105.3(THAP1):c.524G>A (p.Arg175Gln)	THAP1 (R175Q)	Single nucleotide variant (missense variant +1 more)	Torsion dystonia 6	GUncertain significance
Select item 2015900	NM_018105.3(THAP1):c.511A>G (p.Arg171Gly)	THAP1 (R171G)	Single nucleotide variant (missense variant +1 more)	Torsion dystonia 6	GUncertain significance
Select item 521683	NM_018105.3(THAP1):c.506G>A (p.Arg169Gln)	THAP1 (R169Q)	Single nucleotide variant (missense variant +1 more)	Torsion dystonia 6 +2 more	GUncertain significance
Select item 586832	NM_018105.3(THAP1):c.505C>G (p.Arg169Gly)	THAP1 (R169G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 429366	NM_018105.3(THAP1):c.505C>T (p.Arg169Ter)	THAP1 (R169*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GLikely pathogenic
Select item 3665863	NM_018105.3(THAP1):c.496G>A (p.Ala166Thr)	THAP1 (A166T)	Single nucleotide variant (missense variant +1 more)	Torsion dystonia 6	GUncertain significance
Select item 1555272	NM_018105.3(THAP1):c.495C>T (p.Thr165=)	THAP1	Single nucleotide variant (synonymous variant +1 more)	Torsion dystonia 6	GLikely benign
Select item 363125	NM_018105.3(THAP1):c.489C>G (p.Leu163=)	THAP1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 1069320	NM_018105.3(THAP1):c.482_485del (p.Lys161fs)	THAP1 (K161fs)	Microsatellite (frameshift variant +1 more)	Torsion dystonia 6	GPathogenic/Likely pathogenic
Select item 1650	NM_018105.3(THAP1):c.474del (p.Lys158fs)	THAP1 (K158fs)	Deletion (frameshift variant +1 more)	Torsion dystonia 6	GPathogenic
Select item 1695836	NM_018105.3(THAP1):c.467T>G (p.Val156Gly)	THAP1 (V156G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1960712	NM_018105.3(THAP1):c.464A>C (p.Gln155Pro)	THAP1 (Q155P)	Single nucleotide variant (missense variant +1 more)	Torsion dystonia 6	GUncertain significance
Select item 3704665	NM_018105.3(THAP1):c.460C>G (p.Gln154Glu)	THAP1 (Q154E)	Single nucleotide variant (missense variant +1 more)	Torsion dystonia 6	GUncertain significance
Select item 1647	NM_018105.3(THAP1):c.460del (p.Gln154fs)	THAP1 (Q154fs)	Deletion (frameshift variant +1 more)	Torsion dystonia 6	GPathogenic
Select item 1698414	NM_018105.3(THAP1):c.449A>C (p.His150Pro)	THAP1 (H150P)	Single nucleotide variant (missense variant +1 more)	Torsion dystonia 6	GUncertain significance
Select item 1061415	NM_018105.3(THAP1):c.443G>A (p.Arg148Lys)	THAP1 (R148K)	Single nucleotide variant (missense variant +1 more)	Torsion dystonia 6	GUncertain significance
Select item 3703988	NM_018105.3(THAP1):c.432C>T (p.His144=)	THAP1	Single nucleotide variant (synonymous variant +1 more)	Torsion dystonia 6	GLikely benign
Select item 3572611	NM_018105.3(THAP1):c.427_431dup (p.His144fs)	THAP1 (H144fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 225489	NM_018105.3(THAP1):c.427A>G (p.Met143Val)	THAP1 (M143V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2880946	NM_018105.3(THAP1):c.426A>C (p.Thr142=)	THAP1	Single nucleotide variant (synonymous variant +1 more)	Torsion dystonia 6	GLikely benign
Select item 2157617	NM_018105.3(THAP1):c.424A>G (p.Thr142Ala)	THAP1 (T142A)	Single nucleotide variant (missense variant +1 more)	Torsion dystonia 6	GUncertain significance
Select item 448685	NM_018105.3(THAP1):c.421G>A (p.Asp141Asn)	THAP1 (D141N)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 863325	NM_018105.3(THAP1):c.403C>T (p.His135Tyr)	THAP1 (H135Y)	Single nucleotide variant (missense variant +1 more)	Torsion dystonia 6	GUncertain significance
Select item 931879	NM_018105.3(THAP1):c.387_399del (p.Ser130fs)	THAP1 (S130fs)	Deletion (frameshift variant +1 more)	Torsion dystonia 6	GLikely pathogenic
Select item 2417851	NM_018105.3(THAP1):c.398G>A (p.Cys133Tyr)	THAP1 (C133Y)	Single nucleotide variant (missense variant +1 more)	Torsion dystonia 6	GUncertain significance
Select item 2629164	NM_018105.3(THAP1):c.395T>C (p.Phe132Ser)	THAP1 (F132S)	Single nucleotide variant (missense variant +1 more)	THAP1-related disorder +1 more	GUncertain significance
Select item 871563	NM_018105.3(THAP1):c.390dup (p.Val131fs)	THAP1 (V131fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2815851	NM_018105.3(THAP1):c.389C>G (p.Ser130Ter)	THAP1 (S130*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1649	NM_018105.3(THAP1):c.388_389del (p.Val131fs)	THAP1 (V131fs)	Microsatellite (frameshift variant +1 more)	Torsion dystonia 6	GPathogenic
Select item 965170	NM_018105.3(THAP1):c.268-53_386del	THAP1	Deletion (splice acceptor variant)	not provided +1 more	GConflicting classifications of pathogenicity

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