C2673535[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 412030	NM_000360.4(TH):c.1402G>A (p.Val468Met)	TH (V499M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 12326	NM_000360.4(TH):c.1388C>T (p.Thr463Met)	TH (T494M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1004173	NM_000360.4(TH):c.1382C>T (p.Pro461Leu)	TH (P461L +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia	GPathogenic/Likely pathogenic
Select item 3240605	NM_000360.4(TH):c.1334+1G>A	TH	Single nucleotide variant (splice donor 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 2679205	NM_000360.4(TH):c.1273C>T (p.Gln425Ter)	TH (Q425* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive DOPA responsive dystonia	GLikely pathogenic
Select item 2679196	NM_000360.4(TH):c.1267C>T (p.Gln423Ter)	TH (Q423* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive DOPA responsive dystonia	GLikely pathogenic
Select item 573670	NM_000360.4(TH):c.1228C>T (p.Arg410Trp)	TH (R441W +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1452616	NM_000360.4(TH):c.1189G>A (p.Gly397Arg)	TH (G424R +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia	GPathogenic/Likely pathogenic
Select item 2077702	NM_000360.4(TH):c.1147G>A (p.Gly383Arg)	TH (G383R +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia	GConflicting classifications of pathogenicity
Select item 2679212	NM_000360.4(TH):c.1141C>T (p.Gln381Ter)	TH (Q381* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive DOPA responsive dystonia	GLikely pathogenic
Select item 12324	NM_000360.4(TH):c.1141C>A (p.Gln381Lys)	TH (Q412K +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia	GPathogenic/Likely pathogenic
Select item 1455671	NM_000360.4(TH):c.1125del (p.Glu375fs)	TH (E375fs +2 more)	Deletion (frameshift variant)	Autosomal recessive DOPA responsive dystonia	GPathogenic/Likely pathogenic
Select item 2679201	NM_000360.4(TH):c.1105-1G>A	TH	Single nucleotide variant (splice acceptor variant)	Autosomal recessive DOPA responsive dystonia	GLikely pathogenic
Select item 2679198	NM_000360.4(TH):c.1066dup (p.Leu356fs)	TH (L356fs +2 more)	Duplication (frameshift variant)	Autosomal recessive DOPA responsive dystonia	GLikely pathogenic
Select item 1677075	NM_000360.4(TH):c.1061C>T (p.Ala354Val)	TH (A354V +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 639906	NM_000360.4(TH):c.1035_1045del (p.Gln346fs)	TH (Q346fs +2 more)	Deletion (frameshift variant)	Autosomal recessive DOPA responsive dystonia	GPathogenic/Likely pathogenic
Select item 2679195	NM_000360.4(TH):c.1036C>T (p.Gln346Ter)	TH (Q346* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive DOPA responsive dystonia	GLikely pathogenic
Select item 2679204	NM_000360.4(TH):c.978-1_1019del	TH	Deletion (splice acceptor variant)	Autosomal recessive DOPA responsive dystonia	GLikely pathogenic
Select item 1363733	NM_000360.4(TH):c.1010C>T (p.Pro337Leu)	TH (P368L +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia	GConflicting classifications of pathogenicity
Select item 2679206	NM_000360.4(TH):c.978-2A>G	TH	Single nucleotide variant (splice acceptor 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 3240608	NM_000360.4(TH):c.956C>A (p.Ser319Ter)	TH (S319* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive DOPA responsive dystonia	GLikely pathogenic
Select item 2679200	NM_000360.4(TH):c.934C>T (p.Gln312Ter)	TH (Q312* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive DOPA responsive dystonia	GPathogenic/Likely 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 2679213	NM_000360.4(TH):c.841+1G>A	TH	Single nucleotide variant (splice donor variant)	Autosomal recessive DOPA responsive dystonia	GLikely pathogenic
Select item 2679199	NM_000360.4(TH):c.820_823del (p.Asp274fs)	TH (D274fs +2 more)	Deletion (frameshift variant)	Autosomal recessive DOPA responsive dystonia	GLikely pathogenic
Select item 2679203	NM_000360.4(TH):c.789_795dup (p.Glu266fs)	TH (E266fs +2 more)	Duplication (frameshift variant)	Autosomal recessive DOPA responsive dystonia	GPathogenic/Likely 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 1030473	NM_000360.4(TH):c.730G>C (p.Ala244Pro)	TH (A244P +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia	GUncertain significance
Select item 2835823	NM_000360.4(TH):c.711del (p.Thr238fs)	TH (T238fs +2 more)	Deletion (frameshift variant)	Autosomal recessive DOPA responsive dystonia	GPathogenic/Likely pathogenic
Select item 2679209	NM_000360.4(TH):c.708del (p.Val235_Tyr236insTer)	TH	Deletion (nonsense)	Autosomal recessive DOPA responsive dystonia	GLikely pathogenic
Select item 2679197	NM_000360.4(TH):c.696-1G>A	TH	Single nucleotide variant (splice acceptor 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 2679210	NM_000360.4(TH):c.695+1G>C	TH	Single nucleotide variant (splice donor variant)	Autosomal recessive DOPA responsive dystonia	GLikely pathogenic
Select item 948892	NM_000360.4(TH):c.646G>A (p.Gly216Ser)	TH (G243S +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely 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 2679202	NM_000360.4(TH):c.641G>T (p.Arg214Met)	TH (R214M +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia	GPathogenic
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 12327	NM_000360.4(TH):c.605G>A (p.Arg202His)	TH (R233H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
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 3240609	NM_000360.4(TH):c.589C>T (p.Gln197Ter)	TH (Q197* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive DOPA responsive dystonia	GLikely pathogenic
Select item 2852296	NM_000360.4(TH):c.583del (p.Ser195fs)	TH (S195fs +2 more)	Deletion (frameshift variant)	Autosomal recessive DOPA responsive dystonia	GPathogenic/Likely pathogenic
Select item 2679207	NM_000360.4(TH):c.531_541del (p.His178fs)	TH (H178fs +2 more)	Deletion (frameshift variant)	Autosomal recessive DOPA responsive dystonia	GLikely pathogenic
Select item 3240607	NM_000360.4(TH):c.446_447del (p.Arg149fs)	TH (R149fs +2 more)	Microsatellite (frameshift variant)	Autosomal recessive DOPA responsive dystonia	GLikely pathogenic
Select item 2194153	NM_000360.4(TH):c.412C>T (p.Arg138Ter)	TH (R169* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely 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 839432	NM_000360.4(TH):c.284C>T (p.Ala95Val)	TH (A95V +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia	GUncertain significance
Select item 1030422	NM_000360.4(TH):c.216C>T (p.Ala72=)	TH	Single nucleotide variant (synonymous variant)	Autosomal recessive DOPA responsive dystonia	GConflicting classifications of pathogenicity
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 1031811	NM_000360.4(TH):c.200C>T (p.Pro67Leu)	TH (P67L +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia	GUncertain significance
Select item 2679208	NM_000360.4(TH):c.192del (p.Asp66fs)	TH (D66fs +2 more)	Deletion (frameshift variant)	Autosomal recessive DOPA responsive dystonia	GLikely pathogenic
Select item 3240606	NM_000360.4(TH):c.91-1G>C	TH	Single nucleotide variant (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 2679194	NM_000360.4(TH):c.91-860G>T	TH (G44* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive DOPA responsive dystonia	GLikely pathogenic
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 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 695326	NM_000360.4(TH):c.81G>T (p.Glu27Asp)	TH (E27D)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia +1 more	GConflicting classifications of pathogenicity
Select item 526213	NC_000011.10:g.2171856C>T	TH	Single nucleotide variant	not provided +1 more	GPathogenic/Likely pathogenic
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: 65