C2673535[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 654645	NM_000360.4(TH):c.1334+3G>C	TH	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 2050171	NM_000360.4(TH):c.1285T>C (p.Ser429Pro)	TH (S456P +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia	GUncertain significance
Select item 573670	NM_000360.4(TH):c.1228C>T (p.Arg410Trp)	TH (R441W +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 378729	NM_000360.4(TH):c.1103C>T (p.Thr368Met)	TH (T399M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 857525	NM_000360.4(TH):c.794G>A (p.Arg265Gln)	TH (R296Q +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia	GUncertain significance
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 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 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 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 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 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 2100741	NM_000360.4(TH):c.51del (p.Val18fs)	TH (V18fs)	Deletion (frameshift variant)	Autosomal recessive DOPA responsive dystonia	GPathogenic/Likely pathogenic
Select item 526214	NM_000360.4(TH):c.13G>A (p.Asp5Asn)	TH (D5N)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia	GUncertain significance
Select item 304087	NM_000360.4(TH):c.5C>T (p.Pro2Leu)	TH (P2L)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia +1 more	GConflicting classifications of pathogenicity