ClinVar for Gene (Select 23779) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3219543	NM_181335.3(ARHGAP8):c.-11C>T	ARHGAP8, PRR5-ARHGAP8 (S128L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3219541	NM_181335.3(ARHGAP8):c.932C>T (p.Pro311Leu)	ARHGAP8, PRR5-ARHGAP8 (P442L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219540	NM_181335.3(ARHGAP8):c.896G>C (p.Arg299Pro)	ARHGAP8, PRR5-ARHGAP8 (R299P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128984	NM_181335.3(ARHGAP8):c.898G>C (p.Val300Leu)	ARHGAP8, PRR5-ARHGAP8 (V331L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128983	NM_181335.3(ARHGAP8):c.830A>C (p.Gln277Pro)	ARHGAP8, PRR5-ARHGAP8 (Q277P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128982	NM_181335.3(ARHGAP8):c.88C>G (p.Arg30Gly)	ARHGAP8, PRR5-ARHGAP8 (R30G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128981	NM_181335.3(ARHGAP8):c.775G>A (p.Gly259Arg)	ARHGAP8, PRR5-ARHGAP8 (G259R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128980	NM_181335.3(ARHGAP8):c.769G>A (p.Asp257Asn)	ARHGAP8, PRR5-ARHGAP8 (D257N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128979	NM_181335.3(ARHGAP8):c.763T>G (p.Phe255Val)	ARHGAP8, PRR5-ARHGAP8 (F286V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128978	NM_181335.3(ARHGAP8):c.722G>A (p.Arg241His)	ARHGAP8, PRR5-ARHGAP8 (R241H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128977	NM_181335.3(ARHGAP8):c.718G>A (p.Val240Ile)	ARHGAP8, PRR5-ARHGAP8 (V240I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3128976	NM_181335.3(ARHGAP8):c.703G>A (p.Ala235Thr)	ARHGAP8, PRR5-ARHGAP8 (A266T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128974	NM_181335.3(ARHGAP8):c.689T>C (p.Leu230Pro)	ARHGAP8, PRR5-ARHGAP8 (L230P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128973	NM_181335.3(ARHGAP8):c.643T>A (p.Phe215Ile)	ARHGAP8, PRR5-ARHGAP8 (F246I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128972	NM_181335.3(ARHGAP8):c.631C>T (p.Pro211Ser)	ARHGAP8, PRR5-ARHGAP8 (P342S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128971	NM_181335.3(ARHGAP8):c.619G>A (p.Glu207Lys)	ARHGAP8, PRR5-ARHGAP8 (E207K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128970	NM_181335.3(ARHGAP8):c.610A>G (p.Asn204Asp)	ARHGAP8, PRR5-ARHGAP8 (N204D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128969	NM_181335.3(ARHGAP8):c.583G>A (p.Val195Ile)	ARHGAP8, PRR5-ARHGAP8 (V326I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128968	NM_181335.3(ARHGAP8):c.554G>A (p.Arg185Gln)	ARHGAP8, PRR5-ARHGAP8 (R185Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128967	NM_181335.3(ARHGAP8):c.551C>T (p.Pro184Leu)	ARHGAP8, PRR5-ARHGAP8 (P184L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128966	NM_181335.3(ARHGAP8):c.62G>A (p.Gly21Asp)	ARHGAP8, PRR5-ARHGAP8 (G152D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128965	NM_181335.3(ARHGAP8):c.492T>A (p.Asp164Glu)	ARHGAP8, PRR5-ARHGAP8 (D295E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128964	NM_181335.3(ARHGAP8):c.484C>G (p.Arg162Gly)	ARHGAP8, PRR5-ARHGAP8 (R193G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128963	NM_181335.3(ARHGAP8):c.467T>C (p.Ile156Thr)	ARHGAP8, PRR5-ARHGAP8 (I156T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128962	NM_181335.3(ARHGAP8):c.439G>A (p.Glu147Lys)	ARHGAP8, PRR5-ARHGAP8 (E147K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128961	NM_181335.3(ARHGAP8):c.429T>A (p.Ser143Arg)	ARHGAP8, PRR5-ARHGAP8 (S143R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128960	NM_181335.3(ARHGAP8):c.413A>G (p.Tyr138Cys)	ARHGAP8, PRR5-ARHGAP8 (Y269C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128959	NM_181335.3(ARHGAP8):c.49G>A (p.Val17Met)	ARHGAP8, PRR5-ARHGAP8 (V17M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128958	NM_181335.3(ARHGAP8):c.401A>G (p.Lys134Arg)	ARHGAP8, PRR5-ARHGAP8 (K134R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128957	NM_181335.3(ARHGAP8):c.292G>C (p.Asp98His)	ARHGAP8, PRR5-ARHGAP8 (D98H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128956	NM_181335.3(ARHGAP8):c.182C>T (p.Thr61Ile)	ARHGAP8, PRR5-ARHGAP8 (T192I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128955	NM_181335.3(ARHGAP8):c.150C>A (p.Asp50Glu)	ARHGAP8, PRR5-ARHGAP8 (D181E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128954	NM_181335.3(ARHGAP8):c.1297C>T (p.Leu433Phe)	ARHGAP8, PRR5-ARHGAP8 (L433F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128953	NM_181335.3(ARHGAP8):c.1295G>C (p.Arg432Pro)	ARHGAP8, PRR5-ARHGAP8 (R463P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128952	NM_181335.3(ARHGAP8):c.1273C>G (p.Pro425Ala)	ARHGAP8, PRR5-ARHGAP8 (P456A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128951	NM_181335.3(ARHGAP8):c.1268C>T (p.Pro423Leu)	ARHGAP8, PRR5-ARHGAP8 (P423L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128950	NM_181335.3(ARHGAP8):c.1258A>C (p.Thr420Pro)	ARHGAP8, PRR5-ARHGAP8 (T420P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128949	NM_181335.3(ARHGAP8):c.1256C>T (p.Pro419Leu)	ARHGAP8, PRR5-ARHGAP8 (P550L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128948	NM_181335.3(ARHGAP8):c.1253A>C (p.Lys418Thr)	ARHGAP8, PRR5-ARHGAP8 (K449T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3128947	NM_181335.3(ARHGAP8):c.133C>G (p.Pro45Ala)	ARHGAP8, PRR5-ARHGAP8 (P176A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128946	NM_181335.3(ARHGAP8):c.1241C>T (p.Thr414Met)	ARHGAP8, PRR5-ARHGAP8 (T414M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128945	NM_181335.3(ARHGAP8):c.1238C>T (p.Ala413Val)	ARHGAP8, PRR5-ARHGAP8 (A444V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128944	NM_181335.3(ARHGAP8):c.1235A>G (p.Gln412Arg)	ARHGAP8, PRR5-ARHGAP8 (Q543R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3128943	NM_181335.3(ARHGAP8):c.1216G>A (p.Glu406Lys)	ARHGAP8, PRR5-ARHGAP8 (E437K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128942	NM_181335.3(ARHGAP8):c.1160C>T (p.Pro387Leu)	ARHGAP8, PRR5-ARHGAP8 (P418L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128941	NM_181335.3(ARHGAP8):c.1157C>T (p.Ala386Val)	ARHGAP8, PRR5-ARHGAP8 (A386V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128940	NM_181335.3(ARHGAP8):c.1153G>C (p.Glu385Gln)	ARHGAP8, PRR5-ARHGAP8 (E385Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128939	NM_181335.3(ARHGAP8):c.1150C>G (p.Pro384Ala)	ARHGAP8, PRR5-ARHGAP8 (P515A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128938	NM_181335.3(ARHGAP8):c.1130A>G (p.Tyr377Cys)	ARHGAP8, PRR5-ARHGAP8 (Y377C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128937	NM_181335.3(ARHGAP8):c.1122C>G (p.Ile374Met)	ARHGAP8, PRR5-ARHGAP8 (I505M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128936	NM_181335.3(ARHGAP8):c.1102A>G (p.Met368Val)	ARHGAP8, PRR5-ARHGAP8 (M499V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128934	NM_181335.3(ARHGAP8):c.1096C>G (p.Leu366Val)	ARHGAP8, PRR5-ARHGAP8 (L366V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128933	NM_181335.3(ARHGAP8):c.1094C>G (p.Pro365Arg)	ARHGAP8, PRR5-ARHGAP8 (P365R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128932	NM_181335.3(ARHGAP8):c.1088T>G (p.Leu363Arg)	ARHGAP8, PRR5-ARHGAP8 (L363R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128931	NM_181335.3(ARHGAP8):c.1084G>A (p.Ala362Thr)	ARHGAP8, PRR5-ARHGAP8 (A393T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128930	NM_181335.3(ARHGAP8):c.1081A>C (p.Ser361Arg)	ARHGAP8, PRR5-ARHGAP8 (S392R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128929	NM_181335.3(ARHGAP8):c.1072T>G (p.Ser358Ala)	ARHGAP8, PRR5-ARHGAP8 (S358A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128928	NM_181335.3(ARHGAP8):c.1045A>C (p.Asn349His)	ARHGAP8, PRR5-ARHGAP8 (N349H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128927	NM_181335.3(ARHGAP8):c.1039G>A (p.Gly347Arg)	ARHGAP8, PRR5-ARHGAP8 (G347R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128926	NM_181335.3(ARHGAP8):c.1019C>T (p.Ser340Phe)	ARHGAP8, PRR5-ARHGAP8 (S340F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128925	NM_181335.3(ARHGAP8):c.1011G>T (p.Met337Ile)	ARHGAP8, PRR5-ARHGAP8 (M337I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128924	NM_181335.3(ARHGAP8):c.997A>G (p.Ile333Val)	ARHGAP8, PRR5-ARHGAP8 (I464V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128923	NM_181335.3(ARHGAP8):c.988C>T (p.Arg330Trp)	ARHGAP8, PRR5-ARHGAP8 (P295L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128922	NM_181335.3(ARHGAP8):c.959A>G (p.Tyr320Cys)	ARHGAP8, PRR5-ARHGAP8 (Y451C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128921	NM_181335.3(ARHGAP8):c.104T>C (p.Val35Ala)	ARHGAP8, PRR5-ARHGAP8 (V35A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128920	NM_181335.3(ARHGAP8):c.956G>A (p.Arg319His)	ARHGAP8, PRR5-ARHGAP8 (R319H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128919	NM_181335.3(ARHGAP8):c.946G>A (p.Val316Ile)	ARHGAP8, PRR5-ARHGAP8 (V316I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128918	NM_181335.3(ARHGAP8):c.101G>A (p.Arg34His)	ARHGAP8, PRR5-ARHGAP8 (R165H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128917	NM_181335.3(ARHGAP8):c.919T>G (p.Leu307Val)	ARHGAP8, PRR5-ARHGAP8 (L338V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128916	NM_181335.3(ARHGAP8):c.917T>A (p.Ile306Asn)	ARHGAP8, PRR5-ARHGAP8 (I337N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128915	NM_181335.3(ARHGAP8):c.911G>A (p.Arg304His)	ARHGAP8, PRR5-ARHGAP8 (R335H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128914	NM_181335.3(ARHGAP8):c.910C>T (p.Arg304Cys)	ARHGAP8, PRR5-ARHGAP8 (R435C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128913	NM_181335.3(ARHGAP8):c.907T>G (p.Cys303Gly)	ARHGAP8, PRR5-ARHGAP8 (C334G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062463	GRCh37/hg19 22q13.2-13.31(chr22:43920110-46548382)x1	ARHGAP8, ATXN10 +24 more	Copy number loss	not specified	GLikely pathogenic
Select item 3062451	GRCh37/hg19 22q13.2-13.33(chr22:43107363-51156692)x1	A4GALT, ADM2 +78 more	Copy number loss	not specified	GPathogenic
Select item 3062450	GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	A4GALT, ACO2 +106 more	Copy number gain	not specified	GPathogenic
Select item 3062449	GRCh37/hg19 22q13.2-13.33(chr22:44034281-51197838)x1	ACR, ADM2 +69 more	Copy number loss	not specified	GPathogenic
Select item 3062442	GRCh37/hg19 22q13.31-13.33(chr22:44502872-51183871)x1	CELSR1, CERK +64 more	Copy number loss	not specified	GPathogenic
Select item 3062348	GRCh38/hg38 22q13.31-13.33(chr22:44549957-50789329)	CHKB, LOC112695108 +404 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 2672923	GRCh37/hg19 22q13.2-13.33(chr22:43820992-51218654)x1	ACR, ADM2 +71 more	Copy number loss	not provided	GPathogenic
Select item 2653281	NM_181335.3(ARHGAP8):c.1229G>A (p.Arg410Gln)	ARHGAP8, PRR5-ARHGAP8 (R410Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2653280	NM_181335.3(ARHGAP8):c.1134A>G (p.Glu378=)	ARHGAP8, PRR5-ARHGAP8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2653279	NM_181335.3(ARHGAP8):c.955C>T (p.Arg319Cys)	ARHGAP8, PRR5-ARHGAP8 (R319C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2653278	NM_181335.3(ARHGAP8):c.299+658C>T	ARHGAP8, PRR5-ARHGAP8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2653277	NM_181335.3(ARHGAP8):c.18T>A (p.Pro6=)	ARHGAP8, PRR5-ARHGAP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653276	NM_181335.3(ARHGAP8):c.-46G>A	ARHGAP8, PRR5-ARHGAP8	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2590533	NM_181335.3(ARHGAP8):c.1060T>G (p.Ser354Ala)	ARHGAP8, PRR5-ARHGAP8 (S385A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2566221	NM_181335.3(ARHGAP8):c.911G>T (p.Arg304Leu)	ARHGAP8, PRR5-ARHGAP8 (R304L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2499652	GRCh38/hg38 22q13.31(chr22:44184196-45239435)	ARHGAP8, KIAA0930 +39 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 2460021	NM_181335.3(ARHGAP8):c.454G>T (p.Asp152Tyr)	ARHGAP8, PRR5-ARHGAP8 (D283Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385998	NM_181335.3(ARHGAP8):c.244C>T (p.Arg82Trp)	ARHGAP8, PRR5-ARHGAP8 (R213W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356933	NM_181335.3(ARHGAP8):c.205G>A (p.Asp69Asn)	ARHGAP8, PRR5-ARHGAP8 (D200N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342385	NM_181335.3(ARHGAP8):c.-60G>A	ARHGAP8, PRR5-ARHGAP8 (D112N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2340546	NM_181335.3(ARHGAP8):c.1295G>A (p.Arg432His)	ARHGAP8, PRR5-ARHGAP8 (R432H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1808266	GRCh37/hg19 22q13.31-13.33(chr22:44390702-51137629)x1	ADM2, ALG12 +64 more	Copy number loss	not provided	GPathogenic
Select item 1807817	GRCh37/hg19 22q13.2-13.33(chr22:44178749-51183840)x1	ACR, ADM2 +69 more	Copy number loss	not provided	GPathogenic
Select item 1803808	GRCh37/hg19 22q13.2-13.33(chr22:43436847-51188164)x3	MIOX, MPPED1 +76 more	Copy number gain	not provided	GPathogenic
Select item 1526739	GRCh37/hg19 22q13.2-13.31(chr22:43451316-46662660)	ARHGAP8, ATXN10 +33 more	Copy number loss	not specified	GPathogenic
Select item 1526738	GRCh37/hg19 22q13.2-13.33(chr22:42972719-51197838)	A4GALT, ACR +82 more	Copy number loss	not specified	GPathogenic
Select item 1330161	GRCh37/hg19 22q13.2-13.33(chr22:42321321-51244066)x1	A4GALT, ACR +96 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic

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