DRD3[gene] - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	AMOTL2, DNAJC13 +1343 more	Copy number gain	See cases	GPathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ADGRG7, ABHD10 +430 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	ALCAM, BTLA +637 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	ABHD10, ABI3BP +681 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +397 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 57980	GRCh38/hg38 3q13.11-13.31(chr3:104621220-116093884)x3	LOC129937263, LOC129937264 +247 more	Copy number gain	See cases	GPathogenic
Select item 57804	GRCh38/hg38 3q13.13-13.31(chr3:108242572-116169331)x1	ABHD10, ATG3 +185 more	Copy number loss	See cases	GPathogenic
Select item 57131	GRCh38/hg38 3q13.2-13.31(chr3:112168829-117393356)x1	ATG3, ATP6V1A +126 more	Copy number loss	See cases	GPathogenic
Select item 154065	GRCh38/hg38 3q13.2-13.31(chr3:112425234-115795585)x1	ATG3, ATP6V1A +105 more	Copy number loss	See cases	GPathogenic
Select item 149415	GRCh38/hg38 3q13.2-13.31(chr3:112465094-115774111)x1	ATG3, ATP6V1A +104 more	Copy number loss	See cases	GPathogenic
Select item 146287	GRCh38/hg38 3q13.2-13.31(chr3:112465096-115774102)x1	ATG3, ATP6V1A +104 more	Copy number loss	See cases	GLikely pathogenic
Select item 57805	GRCh38/hg38 3q13.2-13.31(chr3:112479482-115774102)x1	ATG3, ATP6V1A +104 more	Copy number loss	See cases	GPathogenic
Select item 154658	GRCh38/hg38 3q13.2-13.33(chr3:112520553-120031022)x1	USF3, ZBTB20 +190 more	Copy number loss	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937351, LOC129937424 +570 more	Copy number loss	See cases	GPathogenic
Select item 153722	GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1	ADCY5, ADPRH +286 more	Copy number loss	See cases	GPathogenic
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 2633497	NM_000796.6(DRD3):c.1110G>T (p.Trp370Cys)	DRD3 (W337C +1 more)	Single nucleotide variant (missense variant)	DRD3-related condition	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 726241	NM_000796.6(DRD3):c.1047T>C (p.His349=)	DRD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2246423	NM_000796.6(DRD3):c.1018G>T (p.Val340Phe)	DRD3 (V307F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 748505	NM_000796.6(DRD3):c.954G>A (p.Arg318=)	DRD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2227067	NM_000796.6(DRD3):c.940C>A (p.Pro314Thr)	DRD3 (P314T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 760365	NM_000796.6(DRD3):c.921G>T (p.Ser307=)	DRD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2654053	NM_000796.6(DRD3):c.723+4A>G	DRD3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 775897	NM_000796.6(DRD3):c.720= (p.Gln240=)	DRD3	Variation (no sequence alteration +1 more)	not provided	GBenign
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 2472489	NM_000796.6(DRD3):c.676C>G (p.Arg226Gly)	DRD3 (R226G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588241	NM_000796.6(DRD3):c.659G>A (p.Arg220Gln)	DRD3 (R220Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 748261	NM_000796.6(DRD3):c.405C>T (p.Pro135=)	DRD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1711864	NM_000796.6(DRD3):c.404C>A (p.Pro135His)	DRD3 (P135H)	Single nucleotide variant (missense variant)	Tremor, hereditary essential, 1	GUncertain significance
Select item 512983	NM_000796.6(DRD3):c.383+2327C>T	DRD3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 342600	NM_000796.6(DRD3):c.383+7C>T	DRD3	Single nucleotide variant (intron variant)	Hereditary essential tremor	GUncertain significance
Select item 739655	NM_000796.6(DRD3):c.324C>A (p.Thr108=)	DRD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2336338	NM_000796.6(DRD3):c.299G>A (p.Arg100His)	DRD3 (R100H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2332247	NM_000796.6(DRD3):c.172C>T (p.Arg58Trp)	DRD3 (R58W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2654054	NM_000796.6(DRD3):c.155T>C (p.Met52Thr)	DRD3 (M52T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1013211	NM_000796.6(DRD3):c.129C>T (p.Ile43=)	DRD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3057445	NM_000796.6(DRD3):c.114G>A (p.Ala38=)	DRD3	Single nucleotide variant (synonymous variant)	DRD3-related condition	GLikely benign
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 2507426	NM_000796.6(DRD3):c.44G>C (p.Cys15Ser)	DRD3 (C15S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301837	NM_000796.6(DRD3):c.41C>T (p.Thr14Ile)	DRD3 (T14I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 515934	NM_000796.6(DRD3):c.25= (p.Gly9=)	DRD3	Single nucleotide variant (no sequence alteration)	not specified	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
Select item 2685090	GRCh37/hg19 3q13.13-13.31(chr3:110398276-113879363)x1	ABHD10, ATG3 +31 more	Copy number loss	not provided	GUncertain significance
Select item 2498335	GRCh37/hg19 3q13.13-13.31(chr3:110966195-115843176)x1	ABHD10, ATG3 +34 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 2423903	NC_000003.11:g.(?_113503051)_(114070745_?)dup	ATP6V1A, CCDC191 +7 more	Duplication	not provided	GUncertain significance
Select item 2423902	NC_000003.11:g.(?_113010404)_(114099634_?)del	ATP6V1A, CCDC191 +12 more	Deletion	not provided	GUncertain significance
Select item 1807773	GRCh37/hg19 3q13.12-13.31(chr3:107059705-115005256)x1	ABHD10, ATG3 +49 more	Copy number loss	not provided	GPathogenic
Select item 1703653	GRCh37/hg19 3q13.12-13.31(chr3:106598767-115704696)	ABHD10, ATG3 +51 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 1527035	GRCh37/hg19 3q13.2-13.31(chr3:112144081-115514432)	ATG3, ATP6V1A +22 more	Copy number loss	not specified	GPathogenic
Select item 1077161	GRCh37/hg19 3q13.31(chr3:113623035-114368128)x1	CCDC191, DRD3 +6 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 980050	GRCh37/hg19 3q13.2-13.31(chr3:112135341-115509260)x3	CD200R1L, CCDC191 +22 more	Copy number gain	not provided	GPathogenic
Select item 929399	GRCh37/hg19 3q13.2-13.32(chr3:113233952-118525556)x1	ATP6V1A, CCDC191 +13 more	Copy number loss	See cases	GPathogenic
Select item 687395	GRCh37/hg19 3q13.31(chr3:113594376-114060961)x3	CCDC191, DRD3 +6 more	Copy number gain	not provided	GUncertain significance
Select item 666447	GRCh37/hg19 3q13.2-13.31(chr3:112183943-115492949)x1	ATG3, ATP6V1A +22 more	Copy number loss	not provided	GPathogenic
Select item 562807	GRCh37/hg19 3q13.2-13.31(chr3:111894832-116930109)x1	ATP6V1A, TIGIT +25 more	Copy number loss	not provided	GPathogenic
Select item 562805	GRCh37/hg19 3q13.13-13.31(chr3:110645295-115103586)x1	ABHD10, ATG3 +34 more	Copy number loss	not provided	GPathogenic
Select item 443681	GRCh37/hg19 3q13.2-13.31(chr3:112590339-116461450)x1	ATP6V1A, BOC +18 more	Copy number loss	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 393800	GRCh37/hg19 3q13.11-13.32(chr3:105094834-117441953)x1	ABHD10, ALCAM +53 more	Copy number loss	See cases	GPathogenic

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Items: 79