"Counsyl"[submitter] AND "TH"[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 304067	NM_000360.4(TH):c.1400A>G (p.Asp467Gly)	TH (D467G +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia	GConflicting classifications of pathogenicity
Select item 557668	NM_000360.4(TH):c.1382C>G (p.Pro461Arg)	TH (P492R +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia	GUncertain significance
Select item 552670	NM_000360.4(TH):c.1335-1G>A	TH	Single nucleotide variant (splice acceptor variant)	Autosomal recessive DOPA responsive dystonia	GUncertain significance
Select item 554418	NM_000360.4(TH):c.1301C>G (p.Ser434Cys)	TH (S465C +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia	GUncertain significance
Select item 551088	NM_000360.4(TH):c.1282del (p.Gln428fs)	TH (Q459fs +2 more)	Deletion (frameshift variant)	Autosomal recessive DOPA responsive dystonia	GLikely pathogenic
Select item 188890	NM_000360.4(TH):c.1282C>T (p.Gln428Ter)	TH (Q428* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive DOPA responsive dystonia	GPathogenic/Likely pathogenic
Select item 551607	NM_000360.4(TH):c.1266C>A (p.Tyr422Ter)	TH (Y453* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive DOPA responsive dystonia	GLikely pathogenic
Select item 556988	NM_000360.4(TH):c.1200+5G>C	TH	Single nucleotide variant (intron variant)	Autosomal recessive DOPA responsive dystonia	GUncertain significance
Select item 557508	NM_000360.4(TH):c.1176_1180del (p.Ser394fs)	TH (S394fs +2 more)	Deletion (frameshift variant)	Autosomal recessive DOPA responsive dystonia	GPathogenic/Likely pathogenic
Select item 558539	NM_000360.4(TH):c.1129G>A (p.Gly377Arg)	TH (G408R +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia	GUncertain significance
Select item 370858	NM_000360.4(TH):c.1104+1G>A	TH	Single nucleotide variant (splice donor variant)	Autosomal recessive DOPA responsive dystonia	GLikely pathogenic
Select item 553397	NM_000360.4(TH):c.1052T>C (p.Ile351Thr)	TH (I382T +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia	GConflicting classifications of pathogenicity
Select item 371299	NM_000360.4(TH):c.997del (p.Leu333fs)	TH (L360fs +2 more)	Deletion (frameshift variant)	Autosomal recessive DOPA responsive dystonia	GLikely pathogenic
Select item 370745	NM_000360.4(TH):c.977+1G>A	TH	Single nucleotide variant (splice donor variant)	Autosomal recessive DOPA responsive dystonia	GLikely pathogenic
Select item 370441	NM_000360.4(TH):c.921del (p.Phe308fs)	TH (F335fs +2 more)	Deletion (frameshift variant)	Autosomal recessive DOPA responsive dystonia	GLikely pathogenic
Select item 12328	NM_000360.4(TH):c.917G>A (p.Arg306His)	TH (R337H +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia	GConflicting classifications of pathogenicity
Select item 558576	NM_000360.4(TH):c.850G>A (p.Gly284Ser)	TH (G315S +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia	GPathogenic/Likely pathogenic
Select item 12330	NM_000360.4(TH):c.848C>T (p.Thr283Met)	TH (T314M +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia	GUncertain significance
Select item 551618	NM_000360.4(TH):c.845dup (p.Thr283fs)	TH (T314fs +2 more)	Duplication (frameshift variant)	Autosomal recessive DOPA responsive dystonia	GLikely pathogenic
Select item 551155	NM_000360.4(TH):c.787G>C (p.Gly263Arg)	TH (G294R +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia +1 more	GConflicting classifications of pathogenicity
Select item 242257	NM_000360.4(TH):c.749A>T (p.Glu250Val)	TH (E281V +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia	GUncertain significance
Select item 370714	NM_000360.4(TH):c.717del (p.Lys240fs)	TH (K267fs +2 more)	Deletion (frameshift variant)	Autosomal recessive DOPA responsive dystonia	GLikely pathogenic
Select item 556999	NM_000360.4(TH):c.696-2A>G	TH	Single nucleotide variant (splice acceptor variant)	Autosomal recessive DOPA responsive dystonia	GLikely pathogenic
Select item 550188	NM_000360.4(TH):c.679G>A (p.Glu227Lys)	TH (E227K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 551833	NM_000360.4(TH):c.644_644+15del	TH	Deletion (splice donor variant)	Autosomal recessive DOPA responsive dystonia	GLikely pathogenic
Select item 553968	NM_000360.4(TH):c.644+2T>A	TH	Single nucleotide variant (splice donor variant)	Autosomal recessive DOPA responsive dystonia	GLikely pathogenic
Select item 557031	NM_000360.4(TH):c.644+1G>A	TH	Single nucleotide variant (splice donor variant)	Autosomal recessive DOPA responsive dystonia	GLikely pathogenic
Select item 555487	NM_000360.4(TH):c.625_636del (p.Ile209_Gln212del)	TH	Deletion (inframe_deletion)	Autosomal recessive DOPA responsive dystonia	GUncertain significance
Select item 553311	NM_000360.4(TH):c.628G>A (p.Ala210Thr)	TH (A241T +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia	GConflicting classifications of pathogenicity
Select item 12325	NM_000360.4(TH):c.614T>C (p.Leu205Pro)	TH (L236P +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia +1 more	GPathogenic/Likely pathogenic
Select item 371630	NM_000360.4(TH):c.601C>T (p.Gln201Ter)	TH (Q201* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive DOPA responsive dystonia	GPathogenic
Select item 555048	NM_000360.4(TH):c.599G>C (p.Arg200Pro)	TH (R231P +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia	GUncertain significance
Select item 371096	NM_000360.4(TH):c.487+2T>C	TH	Single nucleotide variant (splice donor variant)	Autosomal recessive DOPA responsive dystonia	GLikely pathogenic
Select item 553128	NM_000360.4(TH):c.487+1G>C	TH	Single nucleotide variant (splice donor variant)	Autosomal recessive DOPA responsive dystonia	GLikely pathogenic
Select item 552562	NM_000360.4(TH):c.487+1G>A	TH	Single nucleotide variant (splice donor variant)	Autosomal recessive DOPA responsive dystonia	GLikely pathogenic
Select item 449110	NM_000360.4(TH):c.364C>T (p.Arg122Ter)	TH (R153* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 555288	NM_000360.4(TH):c.312+1G>A	TH	Single nucleotide variant (splice donor variant)	Autosomal recessive DOPA responsive dystonia	GLikely pathogenic
Select item 550959	NM_000360.4(TH):c.278_296dup (p.Val100fs)	TH (V100fs +2 more)	Duplication (frameshift variant)	Autosomal recessive DOPA responsive dystonia	GLikely pathogenic
Select item 374732	NM_000360.4(TH):c.292C>T (p.Arg98Ter)	TH (R129* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive DOPA responsive dystonia +1 more	GPathogenic/Likely pathogenic
Select item 557613	NM_000360.4(TH):c.203del (p.Leu68fs)	TH (L68fs +2 more)	Deletion (frameshift variant)	Autosomal recessive DOPA responsive dystonia	GPathogenic/Likely pathogenic
Select item 370929	NM_000360.4(TH):c.91-9_107del	TH	Deletion (splice acceptor variant)	Autosomal recessive DOPA responsive dystonia	GLikely pathogenic
Select item 554554	NM_000360.4(TH):c.91-818G>A	TH	Single nucleotide variant (intron variant +1 more)	Autosomal recessive DOPA responsive dystonia	GConflicting classifications of pathogenicity
Select item 555708	NM_000360.4(TH):c.91-838C>T	TH (S55F +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive DOPA responsive dystonia	GUncertain significance
Select item 555809	NM_000360.4(TH):c.91-871C>T	TH (S44F +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive DOPA responsive dystonia	GUncertain significance
Select item 555670	NM_000360.4(TH):c.91-896_91-885del	TH	Deletion (inframe_deletion +1 more)	Autosomal recessive DOPA responsive dystonia	GUncertain significance
Select item 550015	NM_000360.4(TH):c.91-892C>T	TH (P37L +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive DOPA responsive dystonia +1 more	GUncertain significance
Select item 556460	NM_000360.4(TH):c.91-900G>A	TH	Single nucleotide variant (intron variant +1 more)	Autosomal recessive DOPA responsive dystonia	GUncertain significance
Select item 554564	NM_000360.4(TH):c.91-901A>C	TH	Single nucleotide variant (intron variant +1 more)	Autosomal recessive DOPA responsive dystonia	GUncertain significance
Select item 550813	NM_000360.4(TH):c.90+26G>A	TH	Single nucleotide variant (intron variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 555292	NM_000360.4(TH):c.90+13G>A	TH	Single nucleotide variant (intron variant +1 more)	Autosomal recessive DOPA responsive dystonia	GConflicting classifications of pathogenicity
Select item 554683	NM_000360.4(TH):c.90+13G>T	TH	Single nucleotide variant (intron variant +1 more)	Autosomal recessive DOPA responsive dystonia	GConflicting classifications of pathogenicity
Select item 555748	NM_000360.4(TH):c.90+10C>T	TH (Q34*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive DOPA responsive dystonia	GConflicting classifications of pathogenicity
Select item 555224	NM_000360.4(TH):c.90+7dup	TH (Q34fs)	Duplication (frameshift variant +1 more)	Autosomal recessive DOPA responsive dystonia	GConflicting classifications of pathogenicity
Select item 556461	NM_000360.4(TH):c.90+2_90+3dup	TH (R32*)	Duplication (nonsense +1 more)	Autosomal recessive DOPA responsive dystonia	GUncertain significance
Select item 551572	NM_000360.4(TH):c.90+1G>T	TH (V31L)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive DOPA responsive dystonia	GUncertain significance
Select item 554338	NM_000360.4(TH):c.12_43del (p.Asp5fs)	TH (D5fs)	Deletion (frameshift variant)	Autosomal recessive DOPA responsive dystonia	GLikely pathogenic
Select item 370720	NM_000360.4(TH):c.12dup (p.Asp5fs)	TH (D5fs)	Duplication (frameshift variant)	Autosomal recessive DOPA responsive dystonia	GPathogenic/Likely pathogenic
Select item 556248	NM_000360.4(TH):c.2T>C (p.Met1Thr)	TH (M1T)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive DOPA responsive dystonia	GConflicting classifications of pathogenicity
Select item 550395	NM_199292.2(TH):c.-69T>A	TH	Single nucleotide variant (genic upstream transcript variant)	Autosomal recessive DOPA responsive dystonia	GUncertain significance
Select item 558656	NM_199292.3(TH):c.-71C>T	TH	Single nucleotide variant	Autosomal recessive DOPA responsive dystonia	GPathogenic/Likely pathogenic

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Items: 60