THAP1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Torsion dystonia 6 +1 more	GBenign
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 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)	Inborn genetic diseases +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 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)	Inborn genetic diseases +1 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)	Torsion dystonia 6 +1 more	GLikely pathogenic
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 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 225489	NM_018105.3(THAP1):c.427A>G (p.Met143Val)	THAP1 (M143V)	Single nucleotide variant (missense variant +1 more)	Torsion dystonia 6 +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)	Torsion dystonia 6 +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	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)	Torsion dystonia 6	GUncertain significance
Select item 2729047	NM_018105.3(THAP1):c.373A>C (p.Thr125Pro)	THAP1 (T125P)	Single nucleotide variant (missense variant +1 more)	Torsion dystonia 6 +1 more	GUncertain significance
Select item 547035	NM_018105.3(THAP1):c.365C>T (p.Pro122Leu)	THAP1 (P122L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 463444	NM_018105.3(THAP1):c.363G>A (p.Pro121=)	THAP1	Single nucleotide variant (synonymous variant +1 more)	Torsion dystonia 6	GLikely benign
Select item 3176872	NM_018105.3(THAP1):c.359T>C (p.Met120Thr)	THAP1 (M120T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3067371	NM_018105.3(THAP1):c.358A>G (p.Met120Val)	THAP1 (M120V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3006440	NM_018105.3(THAP1):c.355C>T (p.Leu119=)	THAP1	Single nucleotide variant (synonymous variant)	Torsion dystonia 6	GLikely benign
Select item 1457202	NM_018105.3(THAP1):c.348del (p.Ile116fs)	THAP1 (I116fs +1 more)	Deletion (frameshift variant)	Torsion dystonia 6	GPathogenic
Select item 1471043	NM_018105.3(THAP1):c.346A>C (p.Ile116Leu)	THAP1 (I116L)	Single nucleotide variant (missense variant +1 more)	Torsion dystonia 6	GUncertain significance
Select item 1002296	NM_018105.3(THAP1):c.343G>C (p.Ala115Pro)	THAP1 (A115P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 654563	NM_018105.3(THAP1):c.331C>T (p.Gln111Ter)	THAP1 (Q111*)	Single nucleotide variant (nonsense +1 more)	Torsion dystonia 6	GPathogenic
Select item 2741690	NM_018105.3(THAP1):c.318G>A (p.Pro106=)	THAP1 (R41H)	Single nucleotide variant (synonymous variant +1 more)	Torsion dystonia 6	GLikely benign
Select item 2881162	NM_018105.3(THAP1):c.316C>T (p.Pro106Ser)	THAP1 (P106S)	Single nucleotide variant (missense variant +1 more)	Torsion dystonia 6	GUncertain significance
Select item 2721585	NM_018105.3(THAP1):c.314T>C (p.Leu105Ser)	THAP1 (L105S +1 more)	Single nucleotide variant (missense variant)	Torsion dystonia 6	GUncertain significance
Select item 568461	NM_018105.3(THAP1):c.305dup (p.Pro103fs)	THAP1 (H37fs +1 more)	Duplication (frameshift variant)	Torsion dystonia 6	GPathogenic
Select item 949008	NM_018105.3(THAP1):c.298C>T (p.Leu100Phe)	THAP1 (L100F)	Single nucleotide variant (missense variant +1 more)	Torsion dystonia 6	GUncertain significance
Select item 532262	NM_018105.3(THAP1):c.289C>T (p.Gln97Ter)	THAP1 (Q97*)	Single nucleotide variant (nonsense +1 more)	Torsion dystonia 6	GPathogenic
Select item 2130570	NM_018105.3(THAP1):c.277C>A (p.Leu93Ile)	THAP1 (L93I)	Single nucleotide variant (missense variant +1 more)	Torsion dystonia 6	GUncertain significance
Select item 444750	NM_018105.2(THAP1):c.270_273del	THAP1	Microsatellite	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3363555	NM_018105.3(THAP1):c.270A>G (p.Lys90=)	THAP1 (K25R)	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 976034	NM_018105.3(THAP1):c.268-1G>C	THAP1	Single nucleotide variant (splice acceptor variant)	Torsion dystonia 6	GLikely pathogenic
Select item 2136664	NM_018105.3(THAP1):c.268-2A>G	THAP1	Single nucleotide variant (splice acceptor variant)	Torsion dystonia 6	GUncertain significance
Select item 463443	NM_018105.3(THAP1):c.268-4T>A	THAP1	Single nucleotide variant (intron variant)	Torsion dystonia 6	GBenign
Select item 1982709	NM_018105.3(THAP1):c.268-5T>C	THAP1	Single nucleotide variant (intron variant)	Torsion dystonia 6	GUncertain significance
Select item 1268004	NM_018105.3(THAP1):c.268-87A>G	THAP1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 930300	NM_018105.3(THAP1):c.268-159A>G	THAP1	Single nucleotide variant (intron variant)	Torsion dystonia 6	GUncertain significance
Select item 653740	NM_018105.3(THAP1):c.267+6A>G	THAP1	Single nucleotide variant (intron variant)	Torsion dystonia 6	GConflicting classifications of pathogenicity
Select item 2185045	NM_018105.3(THAP1):c.267+4A>G	THAP1	Single nucleotide variant (intron variant)	Torsion dystonia 6	GUncertain significance
Select item 1648	NM_018105.3(THAP1):c.266A>G (p.Lys89Arg)	THAP1 (K89R)	Single nucleotide variant (missense variant +1 more)	Torsion dystonia 6 +1 more	GUncertain significance
Select item 1400618	NM_018105.3(THAP1):c.260A>G (p.His87Arg)	THAP1 (H87R)	Single nucleotide variant (intron variant +1 more)	Torsion dystonia 6	GUncertain significance
Select item 2730858	NM_018105.3(THAP1):c.247T>C (p.Cys83Arg)	THAP1 (C83R)	Single nucleotide variant (missense variant +1 more)	Torsion dystonia 6	GUncertain significance

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