ClinVar for Gene (Select 54112) - ClinVar

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Links from Gene

Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3282464	NM_022049.3(GPR88):c.673C>T (p.Arg225Trp)	GPR88 (R225W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282463	NM_022049.3(GPR88):c.998C>A (p.Pro333Gln)	GPR88 (P333Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282462	NM_022049.3(GPR88):c.1105G>A (p.Ala369Thr)	GPR88 (A369T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101893	NM_022049.3(GPR88):c.526C>A (p.Leu176Ile)	GPR88 (L176I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101892	NM_022049.3(GPR88):c.1132C>G (p.Arg378Gly)	GPR88 (R378G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3022866	NM_022049.3(GPR88):c.516C>A (p.Leu172=)	GPR88	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999859	NM_022049.3(GPR88):c.304C>T (p.Pro102Ser)	GPR88 (P102S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2995135	NM_022049.3(GPR88):c.897A>T (p.Pro299=)	GPR88	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981966	NM_022049.3(GPR88):c.808C>A (p.Pro270Thr)	GPR88 (P270T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2979583	NM_022049.3(GPR88):c.573C>T (p.His191=)	GPR88	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974552	NM_022049.3(GPR88):c.826C>A (p.Arg276=)	GPR88	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969020	NM_022049.3(GPR88):c.721GCC[7] (p.Ala246_Phe247insAla)	GPR88	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2965341	NM_022049.3(GPR88):c.289G>C (p.Gly97Arg)	GPR88 (G97R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964561	NM_022049.3(GPR88):c.1098C>G (p.Ala366=)	GPR88	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2956887	NM_022049.3(GPR88):c.1089C>T (p.Ala363=)	GPR88	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2954967	NM_022049.3(GPR88):c.1137C>T (p.Ala379=)	GPR88	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877821	NM_022049.3(GPR88):c.712C>T (p.Pro238Ser)	GPR88 (P238S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2868897	NM_022049.3(GPR88):c.287C>T (p.Thr96Ile)	GPR88 (T96I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2856222	NM_022049.3(GPR88):c.657G>C (p.Val219=)	GPR88	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2852717	NM_022049.3(GPR88):c.264G>A (p.Glu88=)	GPR88	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2764024	NM_022049.3(GPR88):c.579G>C (p.Pro193=)	GPR88	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685521	GRCh37/hg19 1p21.2-21.1(chr1:100146136-106580074)x1	AGL, AMY1A +23 more	Copy number loss	not provided	GUncertain significance
Select item 2607024	NM_022049.3(GPR88):c.302C>A (p.Pro101His)	GPR88 (P101H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592113	NM_022049.3(GPR88):c.949G>A (p.Val317Met)	GPR88 (V317M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2544671	NM_022049.3(GPR88):c.1069G>A (p.Ala357Thr)	GPR88 (A357T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535547	NM_022049.3(GPR88):c.769G>A (p.Gly257Ser)	GPR88 (G257S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482181	NM_022049.3(GPR88):c.545G>A (p.Arg182Gln)	GPR88 (R182Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472180	NM_022049.3(GPR88):c.775G>A (p.Ala259Thr)	GPR88 (A259T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426708	NC_000001.10:g.(?_100928187)_(101005677_?)dup	CDC14A, GPR88	Duplication	not provided	GUncertain significance
Select item 2424320	NC_000001.10:g.(?_100316599)_(101709564_?)dup	AGL, CDC14A +13 more	Duplication	Maple syrup urine disease	GUncertain significance
Select item 2331983	NM_022049.3(GPR88):c.562C>T (p.Pro188Ser)	GPR88 (P188S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2125865	NM_022049.3(GPR88):c.282G>A (p.Leu94=)	GPR88	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2095143	NM_022049.3(GPR88):c.223G>A (p.Ala75Thr)	GPR88 (A75T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2018738	NM_022049.3(GPR88):c.420G>A (p.Leu140=)	GPR88	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2002512	NM_022049.3(GPR88):c.682G>A (p.Val228Met)	GPR88 (V228M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1991366	NM_022049.3(GPR88):c.1084G>A (p.Val362Ile)	GPR88 (V362I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1976152	NM_022049.3(GPR88):c.480C>T (p.Gly160=)	GPR88	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1964558	NM_022049.3(GPR88):c.897A>G (p.Pro299=)	GPR88	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1962330	NM_022049.3(GPR88):c.958G>A (p.Ala320Thr)	GPR88 (A320T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1943197	NM_022049.3(GPR88):c.530C>T (p.Pro177Leu)	GPR88 (P177L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1939567	NM_022049.3(GPR88):c.993C>T (p.Leu331=)	GPR88	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1913934	NM_022049.3(GPR88):c.297G>A (p.Ala99=)	GPR88	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1910126	NM_022049.3(GPR88):c.989C>T (p.Ala330Val)	GPR88 (A330V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1909463	NM_022049.3(GPR88):c.806C>G (p.Pro269Arg)	GPR88 (P269R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1908671	NM_022049.3(GPR88):c.901G>C (p.Val301Leu)	GPR88 (V301L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1902630	NM_022049.3(GPR88):c.355C>T (p.Leu119=)	GPR88	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1901909	NM_022049.3(GPR88):c.788C>G (p.Ala263Gly)	GPR88 (A263G)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1900943	NM_022049.3(GPR88):c.1050C>G (p.Val350=)	GPR88	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1900177	NM_022049.3(GPR88):c.1032C>A (p.Arg344=)	GPR88	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1898347	NM_022049.3(GPR88):c.666C>T (p.Ser222=)	GPR88	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1897981	NM_022049.3(GPR88):c.394T>A (p.Cys132Ser)	GPR88 (C132S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1895941	NM_022049.3(GPR88):c.238G>A (p.Val80Ile)	GPR88 (V80I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1715706	NM_022049.3(GPR88):c.956C>A (p.Ala319Glu)	GPR88 (A319E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1670374	NM_022049.3(GPR88):c.696C>T (p.His232=)	GPR88	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1655732	NM_022049.3(GPR88):c.447C>T (p.Tyr149=)	GPR88	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1639490	NM_022049.3(GPR88):c.288C>G (p.Thr96=)	GPR88	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1633875	NM_022049.3(GPR88):c.723C>G (p.Ala241=)	GPR88	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1633555	NM_022049.3(GPR88):c.109C>T (p.Leu37=)	GPR88	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1629100	NM_022049.3(GPR88):c.1119G>C (p.Ala373=)	GPR88	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1607709	NM_022049.3(GPR88):c.54G>C (p.Leu18=)	GPR88	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1602046	NM_022049.3(GPR88):c.306C>G (p.Pro102=)	GPR88	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1566075	NM_022049.3(GPR88):c.222C>T (p.Cys74=)	GPR88	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1540309	NM_022049.3(GPR88):c.468C>A (p.Arg156=)	GPR88	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1529156	NM_022049.3(GPR88):c.1017G>A (p.Arg339=)	GPR88	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1515674	NM_022049.3(GPR88):c.89G>A (p.Arg30Gln)	GPR88 (R30Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1495361	NM_022049.3(GPR88):c.800C>T (p.Pro267Leu)	GPR88 (P267L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1489715	NM_022049.3(GPR88):c.19A>G (p.Thr7Ala)	GPR88 (T7A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1488576	NM_022049.3(GPR88):c.1123C>G (p.Leu375Val)	GPR88 (L375V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1484835	NM_022049.3(GPR88):c.539C>T (p.Ala180Val)	GPR88 (A180V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1466695	NM_022049.3(GPR88):c.449A>G (p.Gln150Arg)	GPR88 (Q150R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1463412	NM_022049.3(GPR88):c.137C>T (p.Thr46Met)	GPR88 (T46M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1346886	NM_022049.3(GPR88):c.885G>A (p.Leu295=)	GPR88	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1341033	GRCh37/hg19 1p21.2-21.1(chr1:100215607-105368230)x1	AGL, AMY1A +22 more	Copy number loss	not provided	GUncertain significance
Select item 1170181	NM_022049.3(GPR88):c.568G>A (p.Val190Ile)	GPR88 (V190I)	Single nucleotide variant (missense variant)	Chorea, childhood-onset, with psychomotor retardation +1 more	GBenign
Select item 1168830	NM_022049.3(GPR88):c.903G>A (p.Val301=)	GPR88	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 814111	GRCh37/hg19 1p21.2(chr1:100704867-101205009)x3	CDC14A, GPR88 +3 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 225846	NM_022049.3(GPR88):c.873C>A (p.Cys291Ter)	GPR88 (C291*)	Single nucleotide variant (nonsense)	Chorea, childhood-onset, with psychomotor retardation	GPathogenic
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LINC01708, LINC01709 +549 more	Copy number gain	See cases	GPathogenic
Select item 146007	GRCh38/hg38 1p21.3-13.3(chr1:97272349-108893138)x1	AGL, AKNAD1 +195 more	Copy number loss	See cases	GPathogenic
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +333 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 85