Related gene-specific medical variations for Gene (Select 7054) - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361505	NM_000360.4(TH):c.686T>C (p.Ile229Thr)	TH (I229T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3244627	NC_000011.9:g.(?_2186110)_(2187232_?)del	TH	Deletion	Autosomal recessive DOPA responsive dystonia	GLikely pathogenic
Select item 3244626	NC_000011.9:g.(?_2188266)_(2189719_?)del	TH	Deletion	Autosomal recessive DOPA responsive dystonia	GLikely pathogenic
Select item 3244625	NC_000011.9:g.(?_2185463)_(2187013_?)del	TH	Deletion	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 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 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 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 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 3064405	NM_000360.4(TH):c.821A>G (p.Asp274Gly)	TH (D274G +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia	GUncertain significance
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 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 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 2679209	NM_000360.4(TH):c.708del (p.Val235_Tyr236insTer)	TH	Deletion (nonsense)	Autosomal recessive DOPA responsive dystonia	GLikely pathogenic
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 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 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 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 2679204	NM_000360.4(TH):c.978-1_1019del	TH	Deletion (splice acceptor 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 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 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 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 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 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 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 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 2437077	NM_000360.4(TH):c.1462A>G (p.Thr488Ala)	TH (T488A +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia	GUncertain significance
Select item 2437076	NM_000360.4(TH):c.308T>C (p.Phe103Ser)	TH (F103S +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia	GUncertain significance
Select item 2437075	NM_000360.4(TH):c.617T>C (p.Ile206Thr)	TH (I206T +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia	GUncertain significance
Select item 2434149	NM_000360.4(TH):c.392_395dup (p.Leu134fs)	TH (L134fs +2 more)	Duplication (frameshift variant)	Autosomal recessive DOPA responsive dystonia	GLikely pathogenic
Select item 2434146	NM_000360.4(TH):c.779del (p.Arg260fs)	TH (R260fs +2 more)	Deletion (frameshift variant)	Autosomal recessive DOPA responsive dystonia	GLikely pathogenic
Select item 992091	NM_000360.4(TH):c.*8G>C	TH	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 992090	NM_000360.4(TH):c.*9C>A	TH	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive DOPA responsive dystonia	GUncertain significance
Select item 990011	NM_000360.4(TH):c.133G>A (p.Ala45Thr)	TH (A45T +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia	GUncertain significance
Select item 990003	NM_000360.4(TH):c.1073C>G (p.Ala358Gly)	TH (A358G +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia	GUncertain significance
Select item 990002	NM_000360.4(TH):c.1086A>C (p.Glu362Asp)	TH (E362D +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia	GUncertain significance
Select item 990001	NM_000360.4(TH):c.1250C>T (p.Ala417Val)	TH (A417V +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia	GUncertain significance
Select item 990000	NM_000360.4(TH):c.1333A>G (p.Arg445Gly)	TH (R445G +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia	GUncertain significance
Select item 989999	NM_000360.4(TH):c.1380C>A (p.Asp460Glu)	TH (D460E +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia	GUncertain significance
Select item 931049	NM_000360.4(TH):c.818A>C (p.Glu273Ala)	TH (E300A +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia	GUncertain significance
Select item 871728	NM_000360.4(TH):c.1104+6T>A	TH	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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Links from Gene

Items: 42