C2673535[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 304051	NM_000207.3(INS):c.*22A>C	INS, INS-IGF2 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Maturity-onset diabetes of the young type 10 +8 more	GConflicting classifications of pathogenicity
Select item 1164243	NM_000360.4(TH):c.1334+127T>C	TH	Single nucleotide variant (intron variant)	Autosomal recessive DOPA responsive dystonia +1 more	GBenign
Select item 1180574	NM_000360.4(TH):c.1105-78A>G	TH	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1185443	NM_000360.4(TH):c.1048-110A>C	TH	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1217327	NM_000360.4(TH):c.1002del (p.His335fs)	TH (H335fs +2 more)	Deletion (frameshift variant)	Autosomal recessive DOPA responsive dystonia	GLikely pathogenic
Select item 263250	NM_000360.4(TH):c.977+8C>G	TH	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
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 263258	NM_000360.4(TH):c.720G>A (p.Lys240=)	TH	Single nucleotide variant (synonymous variant)	Autosomal recessive DOPA responsive dystonia +2 more	GBenign
Select item 1180575	NM_000360.4(TH):c.696-126C>G	TH	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1180576	NM_000360.4(TH):c.696-138G>A	TH	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1180577	NM_000360.4(TH):c.695+99G>A	TH	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 424968	NM_000360.4(TH):c.599G>A (p.Arg200His)	TH (R231H +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia +1 more	GUncertain significance
Select item 263257	NM_000360.4(TH):c.577-22C>T	TH	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 242254	NM_000360.4(TH):c.487+3G>A	TH	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1180578	NM_000360.4(TH):c.313-88G>A	TH	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 263254	NM_000360.4(TH):c.267G>A (p.Arg89=)	TH	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 21866	NM_000360.4(TH):c.241G>A (p.Val81Met)	TH (V112M +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia +3 more	GBenign/Likely benign
Select item 1185444	NM_000360.4(TH):c.91-54A>G	TH	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 698378	NM_000360.4(TH):c.51C>T (p.Ala17=)	TH	Single nucleotide variant (synonymous variant)	Autosomal recessive DOPA responsive dystonia	GBenign