DRD5[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 150735	GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1	AFAP1, AFAP1-AS1 +633 more	Copy number loss	See cases	GPathogenic
Select item 147969	GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3	ABLIM2, ACOX3 +674 more	Copy number gain	See cases	GPathogenic
Select item 57874	GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1	ABLIM2, ACOX3 +597 more	Copy number loss	See cases	GPathogenic
Select item 155646	GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1	LOC129992028, LOC129992029 +691 more	Copy number loss	See cases	GPathogenic
Select item 155619	GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1	LOC129992002, LOC129992003 +597 more	Copy number loss	See cases	GPathogenic
Select item 149255	GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3	LOC126806993, LOC126806994 +702 more	Copy number gain	See cases	GPathogenic
Select item 149142	GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1	ABLIM2, ACOX3 +569 more	Copy number loss	See cases	GPathogenic
Select item 147922	GRCh38/hg38 4p16.3-16.1(chr4:72555-10250666)x1	ABLIM2, ACOX3 +536 more	Copy number loss	See cases	GPathogenic
Select item 146353	GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1	ABLIM2, ACOX3 +657 more	Copy number loss	See cases	GPathogenic
Select item 146219	GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1	ABLIM2, ACOX3 +623 more	Copy number loss	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +1039 more	Copy number gain	See cases	GPathogenic
Select item 58011	GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3	LOC129992237, LOC129992238 +861 more	Copy number gain	See cases	GPathogenic
Select item 57902	GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1	LOC129992157, LOC129992158 +832 more	Copy number loss	See cases	GPathogenic
Select item 146023	GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3	ABLIM2, ACOX3 +618 more	Copy number gain	See cases	GPathogenic
Select item 146010	GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1	LOC129992049, LOC129992050 +537 more	Copy number loss	See cases	GPathogenic
Select item 58015	GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	SOD3, SORCS2 +987 more	Copy number gain	See cases	GPathogenic
Select item 58013	GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3	ABLIM2, ACOX3 +716 more	Copy number gain	See cases	GPathogenic
Select item 57937	GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1	ABLIM2, ACOX3 +659 more	Copy number loss	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 153003	GRCh38/hg38 4p16.3-15.32(chr4:4426403-17460549)x1	ABLIM2, ACOX3 +365 more	Copy number loss	See cases	GPathogenic
Select item 626310	NC_000004.12:g.8398067_17505522inv	ACOX3, BOD1L1 +193 more	Inversion	Dihydropteridine reductase deficiency	GPathogenic
Select item 148843	GRCh38/hg38 4p16.1(chr4:8414872-10011846)x3	ACOX3, CPZ +54 more	Copy number gain	See cases	GLikely benign
Select item 154544	GRCh38/hg38 4p16.1(chr4:9369290-10250666)x3	LOC129992239, LOC129992240 +30 more	Copy number gain	See cases	GUncertain significance
Select item 57827	GRCh38/hg38 4p16.1(chr4:9381969-10163409)x3	DEFB131A, DRD5 +29 more	Copy number gain	See cases	GUncertain significance
Select item 155220	GRCh38/hg38 4p16.1(chr4:9500007-10147031)x3	DRD5, LOC123466232 +28 more	Copy number gain	See cases	GUncertain significance
Select item 16765	DRD5, (CT/GT/GA)n	DRD5	Microsatellite	Blepharospasm	Grisk factor
Select item 1243205	NM_000798.5(DRD5):c.-226G>C	DRD5, SLC2A9	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 3040751	NM_000798.5(DRD5):c.-5C>G	DRD5, SLC2A9	Single nucleotide variant (5 prime UTR variant)	DRD5-related disorder	GLikely benign
Select item 2233209	NM_000798.5(DRD5):c.59A>C (p.Gln20Pro)	DRD5, SLC2A9 (Q20P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481985	NM_000798.5(DRD5):c.69G>C (p.Gln23His)	DRD5, SLC2A9 (Q23H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367378	NM_000798.5(DRD5):c.83G>A (p.Gly28Glu)	DRD5, SLC2A9 (G28E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394411	NM_000798.5(DRD5):c.122T>C (p.Val41Ala)	DRD5, SLC2A9 (V41A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043073	NM_000798.5(DRD5):c.186C>A (p.Cys62Ter)	DRD5, SLC2A9 (C62*)	Single nucleotide variant (nonsense)	DRD5-related disorder	GLikely benign
Select item 3058787	NM_000798.5(DRD5):c.216C>G (p.Arg72=)	DRD5, SLC2A9	Single nucleotide variant (synonymous variant)	DRD5-related disorder	GLikely benign
Select item 2370359	NM_000798.5(DRD5):c.233T>G (p.Val78Gly)	DRD5, SLC2A9 (V78G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262059	NM_000798.5(DRD5):c.251C>T (p.Ala84Val)	DRD5, SLC2A9 (A84V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 592325	NM_000798.5(DRD5):c.262C>T (p.Leu88Phe)	DRD5, SLC2A9 (L88F)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 3273762	NM_000798.5(DRD5):c.313G>T (p.Gly105Cys)	DRD5, SLC2A9 (G105C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085797	NM_000798.5(DRD5):c.332C>A (p.Ala111Glu)	DRD5, SLC2A9 (A111E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470086	NM_000798.5(DRD5):c.340G>A (p.Asp114Asn)	DRD5, SLC2A9 (D114N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085798	NM_000798.5(DRD5):c.463C>T (p.Arg155Cys)	DRD5, SLC2A9 (R155C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522344	NM_000798.5(DRD5):c.473T>G (p.Leu158Trp)	DRD5, SLC2A9 (L158W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085799	NM_000798.5(DRD5):c.491C>A (p.Ala164Glu)	DRD5, SLC2A9 (A164E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085800	NM_000798.5(DRD5):c.536A>G (p.Asn179Ser)	SLC2A9, DRD5 (N179S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286139	NM_000798.5(DRD5):c.554C>T (p.Ala185Val)	DRD5, SLC2A9 (A185V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034554	NM_000798.5(DRD5):c.631G>A (p.Asp211Asn)	DRD5, SLC2A9 (D211N)	Single nucleotide variant (missense variant)	DRD5-related disorder	GLikely benign
Select item 2364217	NM_000798.5(DRD5):c.723G>T (p.Met241Ile)	DRD5, SLC2A9 (M241I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380310	NM_000798.5(DRD5):c.724A>G (p.Ile242Val)	DRD5, SLC2A9 (I242V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085802	NM_000798.5(DRD5):c.760G>A (p.Val254Met)	DRD5, SLC2A9 (V254M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478239	NM_000798.5(DRD5):c.770G>A (p.Arg257His)	DRD5, SLC2A9 (R257H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480521	NM_000798.5(DRD5):c.772A>T (p.Arg258Trp)	DRD5, SLC2A9 (R258W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085803	NM_000798.5(DRD5):c.788A>G (p.Glu263Gly)	DRD5, SLC2A9 (E263G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033610	NM_000798.5(DRD5):c.804C>G (p.His268Gln)	DRD5, SLC2A9 (H268Q)	Single nucleotide variant (missense variant)	DRD5-related disorder	GBenign
Select item 3085804	NM_000798.5(DRD5):c.818G>A (p.Arg273Gln)	DRD5, SLC2A9 (R273Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251353	NM_000798.5(DRD5):c.866A>G (p.Lys289Arg)	DRD5, SLC2A9 (K289R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473016	NM_000798.5(DRD5):c.877A>G (p.Lys293Glu)	DRD5, SLC2A9 (K293E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524269	NM_000798.5(DRD5):c.905T>C (p.Met302Thr)	DRD5, SLC2A9 (M302T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610800	NM_000798.5(DRD5):c.936C>A (p.Phe312Leu)	DRD5, SLC2A9 (F312L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529229	NM_000798.5(DRD5):c.968G>T (p.Ser323Ile)	DRD5, SLC2A9 (S323I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507407	NM_000798.5(DRD5):c.978C>T (p.Pro326=)	DRD5, SLC2A9	Single nucleotide variant (synonymous variant)	Schizophrenia +1 more	GUncertain significance
Select item 2478240	NM_000798.5(DRD5):c.991G>C (p.Ala331Pro)	DRD5, SLC2A9 (A331P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273764	NM_000798.5(DRD5):c.1006G>A (p.Val336Ile)	DRD5, SLC2A9 (V336I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085794	NM_000798.5(DRD5):c.1009A>T (p.Ser337Cys)	DRD5, SLC2A9 (S337C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469563	NM_000798.5(DRD5):c.1010G>C (p.Ser337Thr)	DRD5, SLC2A9 (S337T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352642	NM_000798.5(DRD5):c.1028T>A (p.Val343Asp)	DRD5, SLC2A9 (V343D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085795	NM_000798.5(DRD5):c.1041C>G (p.Phe347Leu)	DRD5, SLC2A9 (F347L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513538	NM_000798.5(DRD5):c.1060C>G (p.Leu354Val)	DRD5, SLC2A9 (L354V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 501082	NM_000798.5(DRD5):c.1086C>G (p.Asn362Lys)	DRD5, SLC2A9 (N362K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3273763	NM_000798.5(DRD5):c.1091A>G (p.Asp364Gly)	DRD5, SLC2A9 (D364G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480667	NM_000798.5(DRD5):c.1123T>A (p.Cys375Ser)	DRD5, SLC2A9 (C375S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316948	NM_000798.5(DRD5):c.1159G>A (p.Val387Met)	DRD5, SLC2A9 (V387M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 285972	NM_000798.5(DRD5):c.1184C>T (p.Ser395Phe)	DRD5, SLC2A9 (S395F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2543087	NM_000798.5(DRD5):c.1243C>T (p.Pro415Ser)	DRD5, SLC2A9 (P415S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273761	NM_000798.5(DRD5):c.1268G>A (p.Arg423Gln)	DRD5, SLC2A9 (R423Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372743	NM_000798.5(DRD5):c.1313T>C (p.Phe438Ser)	DRD5, SLC2A9 (F438S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2346810	NM_000798.5(DRD5):c.1337A>G (p.Asp446Gly)	DRD5, SLC2A9 (D446G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398254	NM_000798.5(DRD5):c.1339G>A (p.Gly447Ser)	DRD5, SLC2A9 (G447S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595293	NM_000798.5(DRD5):c.1405A>G (p.Thr469Ala)	DRD5, SLC2A9 (T469A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085796	NM_000798.5(DRD5):c.1408C>T (p.Pro470Ser)	SLC2A9, DRD5 (P470S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1287057	NM_000798.5(DRD5):c.*47T>C	DRD5, SLC2A9	Single nucleotide variant (3 prime UTR variant)	Hereditary attention deficit-hyperactivity disorder +1 more	GConflicting classifications of pathogenicity
Select item 1270964	NM_000798.5(DRD5):c.*178G>T	DRD5, SLC2A9	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3246741	NC_000004.11:g.(?_2357152)_(15176083_?)del	ABLIM2, ACOX3 +83 more	Deletion	not provided	GPathogenic
Select item 3062783	GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1	ABLIM2, ACOX3 +140 more	Copy number loss	not specified	GPathogenic
Select item 3062781	GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1	ABLIM2, ACOX3 +120 more	Copy number loss	not specified	GPathogenic
Select item 3062759	GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	ABLIM2, ACOX3 +143 more	Copy number loss	not specified	GPathogenic
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3024630	GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1	MSANTD1, MSX1 +117 more	Copy number loss	not provided	GPathogenic
Select item 2583026	GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1	USP17L24, USP17L25 +132 more	Copy number loss	not provided	GPathogenic
Select item 2574695	GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	RNF212, RNF4 +162 more	Copy number gain	4p16.3 microduplication syndrome	GPathogenic
Select item 2426319	NC_000004.11:g.(?_8869419)_(10118290_?)del	DEFB131A, DRD5 +22 more	Deletion	not provided	GUncertain significance
Select item 1808621	GRCh37/hg19 4p16.3-15.33(chr4:1-12785001)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1808552	GRCh37/hg19 4p16.3-15.33(chr4:68346-12369983)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1808501	GRCh37/hg19 4p16.1(chr4:9577433-10148655)x3	DRD5, SLC2A9 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1707444	GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1	ABLIM2, ACOX3 +143 more	Copy number loss	See cases	GPathogenic
Select item 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
Select item 1527074	GRCh37/hg19 4p16.1(chr4:8683743-10358964)	DEFB131A, DRD5 +22 more	Copy number gain	not specified	GUncertain significance

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