ClinVar for Gene (Select 1812) - ClinVar

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Links from Gene

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3273749	NM_000794.5(DRD1):c.929C>T (p.Ser310Phe)	DRD1 (S310F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085767	NM_000794.5(DRD1):c.758G>C (p.Cys253Ser)	DRD1 (C253S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085766	NM_000794.5(DRD1):c.433A>G (p.Ser145Gly)	DRD1 (S145G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685184	GRCh37/hg19 5q35.1-35.2(chr5:171836503-176517734)x1	ARL10, ATP6V0E1 +37 more	Copy number loss	not provided	GPathogenic
Select item 2535724	NM_000794.5(DRD1):c.1187G>T (p.Gly396Val)	DRD1 (G396V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374641	NM_000794.5(DRD1):c.223G>A (p.Val75Ile)	DRD1 (V75I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359193	NM_000794.5(DRD1):c.544A>G (p.Thr182Ala)	DRD1 (T182A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335981	NM_000794.5(DRD1):c.1336A>G (p.Thr446Ala)	DRD1 (T446A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327277	NM_000794.5(DRD1):c.1040G>A (p.Cys347Tyr)	DRD1 (C347Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317667	NM_000794.5(DRD1):c.50A>T (p.Glu17Val)	DRD1 (E17V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293118	NM_000794.5(DRD1):c.469A>G (p.Ile157Val)	DRD1 (I157V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216368	NM_000794.5(DRD1):c.43G>A (p.Val15Met)	DRD1 (V15M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711097	GRCh37/hg19 5q35.1-35.3(chr5:170350336-180719789)x3	ADAMTS2, ARL10 +117 more	Copy number gain	See cases	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 981214	GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3	ADAMTS2, ARL10 +115 more	Copy number gain	5q35 microduplication syndrome	GPathogenic
Select item 750471	NM_000794.5(DRD1):c.522A>C (p.Gly174=)	DRD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 734126	NM_000794.5(DRD1):c.432C>T (p.Ile144=)	DRD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 726696	NM_000794.5(DRD1):c.1317A>G (p.Thr439=)	DRD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 722939	NM_000794.5(DRD1):c.1044C>T (p.Tyr348=)	DRD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 515932	NM_000794.5(DRD1):c.-48=	DRD1	Single nucleotide variant (no sequence alteration)	not specified	GBenign
Select item 511081	NM_000794.5(DRD1):c.-48G>A	DRD1	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GLikely benign
Select item 442855	GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3	ADAMTS2, ARL10 +106 more	Copy number gain	See cases	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 221449	GRCh37/hg19 5q35.2(chr5:173043321-174953690)x3	CPEB4, DRD1 +4 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 187821	GRCh37/hg19 5q35.2-35.3(chr5:174397487-180686444)x1	BTNL9, C5orf60 +92 more	Copy number loss	See cases	GPathogenic
Select item 154580	GRCh38/hg38 5q35.1-35.2(chr5:173237772-176614618)x3	ARL10, BOD1 +131 more	Copy number gain	See cases	GPathogenic
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	LOC129995246, LOC129995247 +622 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 34