"Illumina Laboratory Services, Illumina"[submitter] AND "DRD3"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 342594	NM_000796.6(DRD3):c.1151C>A (p.Thr384Asn)	DRD3 (T384N +1 more)	Single nucleotide variant (missense variant)	Hereditary essential tremor	GUncertain significance
Select item 342595	NM_000796.6(DRD3):c.1077C>T (p.His359=)	DRD3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 342596	NM_000796.6(DRD3):c.987A>G (p.Gln329=)	DRD3	Single nucleotide variant (synonymous variant)	Tremor, hereditary essential, 1 +1 more	GBenign
Select item 342597	NM_000796.6(DRD3):c.821G>A (p.Gly274Glu)	DRD3 (G274E)	Single nucleotide variant (missense variant)	Hereditary essential tremor	GUncertain significance
Select item 342598	NM_000796.6(DRD3):c.720G>A (p.Gln240=)	DRD3	Single nucleotide variant (synonymous variant +1 more)	Tremor, hereditary essential, 1	GBenign
Select item 342599	NM_000796.6(DRD3):c.691T>A (p.Cys231Ser)	DRD3 (C231S)	Single nucleotide variant (missense variant)	DRD3-related condition +1 more	GLikely benign
Select item 899696	NM_000796.6(DRD3):c.406G>A (p.Val136Ile)	DRD3 (V136I)	Single nucleotide variant (missense variant)	Tremor, hereditary essential, 1	GLikely benign
Select item 342600	NM_000796.6(DRD3):c.383+7C>T	DRD3	Single nucleotide variant (intron variant)	Hereditary essential tremor	GUncertain significance
Select item 342601	NM_000796.6(DRD3):c.302T>G (p.Ile101Ser)	DRD3 (I101S)	Single nucleotide variant (missense variant)	Hereditary essential tremor	GUncertain significance
Select item 342602	NM_000796.6(DRD3):c.270+14A>G	DRD3	Single nucleotide variant (intron variant)	Hereditary essential tremor	GUncertain significance
Select item 899697	NM_000796.6(DRD3):c.112G>A (p.Ala38Thr)	DRD3 (A38T)	Single nucleotide variant (missense variant)	Tremor, hereditary essential, 1	GLikely benign
Select item 342603	NM_000796.6(DRD3):c.51A>G (p.Ala17=)	DRD3	Single nucleotide variant (synonymous variant)	DRD3-related condition +1 more	GBenign
Select item 16770	NM_000796.6(DRD3):c.25G>A (p.Gly9Ser)	DRD3 (G9S)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 342604	NM_000796.6(DRD3):c.-38A>C	DRD3	Single nucleotide variant (5 prime UTR variant)	Hereditary essential tremor	GUncertain significance
Select item 342605	NM_000796.6(DRD3):c.-105G>A	DRD3	Single nucleotide variant (5 prime UTR variant)	Tremor, hereditary essential, 1	GLikely benign
Select item 342606	NM_000796.6(DRD3):c.-114A>G	DRD3	Single nucleotide variant (5 prime UTR variant)	Hereditary essential tremor	GUncertain significance
Select item 342607	NM_000796.6(DRD3):c.-153T>G	DRD3	Single nucleotide variant (5 prime UTR variant)	Tremor, hereditary essential, 1	GLikely benign
Select item 342608	NM_000796.6(DRD3):c.-252C>T	DRD3	Single nucleotide variant (5 prime UTR variant +1 more)	Tremor, hereditary essential, 1	GLikely benign
Select item 342609	NM_000796.6(DRD3):c.-281A>G	DRD3	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary essential tremor	GUncertain significance
Select item 342610	NM_000796.6(DRD3):c.-286A>C	DRD3	Single nucleotide variant (5 prime UTR variant +1 more)	Tremor, hereditary essential, 1	GLikely benign
Select item 342611	NM_000796.6(DRD3):c.-318C>T	DRD3	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary essential tremor	GUncertain significance
Select item 342612	NM_000796.6(DRD3):c.-333G>A	DRD3	Single nucleotide variant (5 prime UTR variant +1 more)	Tremor, hereditary essential, 1	GBenign
Select item 342613	NM_000796.6(DRD3):c.-388T>A	DRD3	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary essential tremor	GUncertain significance

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Items: 23