ClinVar for Gene (Select 58504) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235900	GRCh38/hg38 10q11.22-11.23(chr10:45795500-50134000)	AGAP4, AGAP6 +122 more	Copy number loss	Pulmonary arterial hypertension	GLikely pathogenic
Select item 3148882	GRCh37/hg19 10q11.22-11.23(chr10:46975077-51089085)x3	AGAP10, AGAP9 +28 more	Copy number gain	See cases	GUncertain significance
Select item 3128629	NM_021226.4(ARHGAP22):c.745G>A (p.Glu249Lys)	ARHGAP22 (E159K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128628	NM_021226.4(ARHGAP22):c.63G>T (p.Glu21Asp)	ARHGAP22 (E21D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128627	NM_021226.4(ARHGAP22):c.515C>T (p.Ala172Val)	ARHGAP22 (A82V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128626	NM_021226.4(ARHGAP22):c.458T>C (p.Phe153Ser)	ARHGAP22 (F169S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128625	NM_021226.4(ARHGAP22):c.448G>A (p.Gly150Arg)	ARHGAP22 (G156R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3128624	NM_021226.4(ARHGAP22):c.286G>A (p.Glu96Lys)	ARHGAP22 (E96K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128623	NM_021226.4(ARHGAP22):c.247C>A (p.Leu83Ile)	ARHGAP22 (L89I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128622	NM_021226.4(ARHGAP22):c.233A>T (p.Gln78Leu)	ARHGAP22 (Q78L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128621	NM_021226.4(ARHGAP22):c.2087C>T (p.Ala696Val)	ARHGAP22 (A653V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128620	NM_021226.4(ARHGAP22):c.1982G>A (p.Arg661Gln)	ARHGAP22 (R667Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128619	NM_021226.4(ARHGAP22):c.1951A>C (p.Met651Leu)	ARHGAP22 (M667L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128618	NM_021226.4(ARHGAP22):c.1889A>G (p.Asp630Gly)	ARHGAP22 (D630G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128617	NM_021226.4(ARHGAP22):c.184C>T (p.Arg62Cys)	ARHGAP22 (R62C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128616	NM_021226.4(ARHGAP22):c.1718C>A (p.Ala573Glu)	ARHGAP22 (A530E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128615	NM_021226.4(ARHGAP22):c.1636G>C (p.Asp546His)	ARHGAP22 (D503H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128614	NM_021226.4(ARHGAP22):c.1591G>T (p.Ala531Ser)	ARHGAP22 (A441S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128613	NM_021226.4(ARHGAP22):c.1435C>T (p.Arg479Trp)	ARHGAP22 (R485W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128612	NM_021226.4(ARHGAP22):c.1268A>G (p.Gln423Arg)	ARHGAP22 (Q333R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128611	NM_021226.4(ARHGAP22):c.1250G>A (p.Ser417Asn)	ARHGAP22 (S374N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128610	NM_021226.4(ARHGAP22):c.1192G>T (p.Gly398Trp)	ARHGAP22 (G355W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128609	NM_021226.4(ARHGAP22):c.112G>A (p.Val38Met)	ARHGAP22 (V44M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684603	GRCh37/hg19 10q11.22-11.23(chr10:48349961-51817663)x3	AGAP6, ARHGAP22 +25 more	Copy number gain	not provided	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2663790	NC_000010.10:g.(?_49383876)_(52383915_?)del	AGAP6, ARHGAP22 +22 more	Deletion	Cockayne syndrome type 2	GPathogenic
Select item 2640449	NM_021226.4(ARHGAP22):c.989-385A>G	ARHGAP22	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2640448	NM_021226.4(ARHGAP22):c.989-189C>T	ARHGAP22	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2640447	NM_021226.4(ARHGAP22):c.989-110T>C	ARHGAP22	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2640446	NM_021226.4(ARHGAP22):c.1494G>A (p.Pro498=)	ARHGAP22	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2620416	NM_021226.4(ARHGAP22):c.677C>T (p.Thr226Met)	ARHGAP22 (T226M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619517	NM_021226.4(ARHGAP22):c.338G>A (p.Arg113Gln)	ARHGAP22 (R119Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2619076	NM_021226.4(ARHGAP22):c.1508G>T (p.Gly503Val)	ARHGAP22 (G503V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614111	NM_021226.4(ARHGAP22):c.1951A>G (p.Met651Val)	ARHGAP22 (M561V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597451	NM_021226.4(ARHGAP22):c.71G>A (p.Arg24Gln)	ARHGAP22 (R24Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2580332	GRCh37/hg19 10q11.22-11.23(chr10:46284269-51870080)x1	AGAP10, AGAP4 +37 more	Copy number loss	See cases	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2561125	NM_021226.4(ARHGAP22):c.1852G>A (p.Glu618Lys)	ARHGAP22 (E634K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556660	NM_021226.4(ARHGAP22):c.583C>T (p.Arg195Cys)	ARHGAP22 (R105C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542404	NM_021226.4(ARHGAP22):c.815A>G (p.Gln272Arg)	ARHGAP22 (Q182R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541665	NM_021226.4(ARHGAP22):c.757A>G (p.Ser253Gly)	ARHGAP22 (S210G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541278	NM_021226.4(ARHGAP22):c.1723G>A (p.Ala575Thr)	ARHGAP22 (A485T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2514957	NM_021226.4(ARHGAP22):c.952C>T (p.Arg318Trp)	ARHGAP22 (R228W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2498203	NC_000010.11:g.45704708_(49974954_50015268)del	AGAP4, AGAP6 +122 more	Deletion	10q11.22q11.23 deletion syndrome	GLikely pathogenic
Select item 2494747	NM_021226.4(ARHGAP22):c.1076C>T (p.Ser359Phe)	ARHGAP22 (S269F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472397	NM_021226.4(ARHGAP22):c.844A>C (p.Asn282His)	ARHGAP22 (N192H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472278	NM_021226.4(ARHGAP22):c.565A>G (p.Thr189Ala)	ARHGAP22 (T189A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462708	NM_021226.4(ARHGAP22):c.440C>T (p.Pro147Leu)	ARHGAP22 (P147L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2462477	NM_021226.4(ARHGAP22):c.1417C>T (p.Arg473Trp)	ARHGAP22 (R383W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455932	NM_021226.4(ARHGAP22):c.83G>A (p.Arg28Gln)	ARHGAP22 (R28Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455745	NM_021226.4(ARHGAP22):c.82C>T (p.Arg28Trp)	ARHGAP22 (R28W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410866	NM_021226.4(ARHGAP22):c.1334G>A (p.Gly445Asp)	ARHGAP22 (G445D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409157	NM_021226.4(ARHGAP22):c.859A>G (p.Ile287Val)	ARHGAP22 (I287V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390915	NM_021226.4(ARHGAP22):c.1150G>C (p.Gly384Arg)	ARHGAP22 (G341R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384175	NM_021226.4(ARHGAP22):c.208A>G (p.Lys70Glu)	ARHGAP22 (K70E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364062	NM_021226.4(ARHGAP22):c.1051G>A (p.Ala351Thr)	ARHGAP22 (A351T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356494	NM_021226.4(ARHGAP22):c.1691T>C (p.Leu564Pro)	ARHGAP22 (L521P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2349854	NM_021226.4(ARHGAP22):c.89C>T (p.Pro30Leu)	ARHGAP22 (P30L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340947	NM_021226.4(ARHGAP22):c.2069G>A (p.Gly690Glu)	ARHGAP22 (G647E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338330	NM_021226.4(ARHGAP22):c.1909C>T (p.Arg637Trp)	ARHGAP22 (R547W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337022	NM_021226.4(ARHGAP22):c.1749C>A (p.Ser583Arg)	ARHGAP22 (S540R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323420	NM_021226.4(ARHGAP22):c.1328A>T (p.Lys443Met)	ARHGAP22 (K449M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289163	NM_021226.4(ARHGAP22):c.1910G>A (p.Arg637Gln)	ARHGAP22 (R547Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2288143	NM_021226.4(ARHGAP22):c.598G>T (p.Ala200Ser)	ARHGAP22 (A157S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283232	NM_021226.4(ARHGAP22):c.931G>A (p.Val311Ile)	ARHGAP22 (V268I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271964	NM_021226.4(ARHGAP22):c.1210C>G (p.Leu404Val)	ARHGAP22 (L420V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247427	NM_021226.4(ARHGAP22):c.1414C>T (p.Arg472Cys)	ARHGAP22 (R478C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233642	NM_021226.4(ARHGAP22):c.1289C>G (p.Ser430Cys)	ARHGAP22 (S430C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229351	NM_021226.4(ARHGAP22):c.584G>A (p.Arg195His)	ARHGAP22 (R195H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224156	NM_021226.4(ARHGAP22):c.1081C>T (p.Arg361Cys)	ARHGAP22 (R377C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224092	NM_021226.4(ARHGAP22):c.1580G>A (p.Ser527Asn)	ARHGAP22 (S527N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1879150	GRCh37/hg19 10q11.22-11.23(chr10:46584432-51974628)x3	AGAP10, AGAP6 +35 more	Copy number gain	not provided	GUncertain significance
Select item 1808699	GRCh37/hg19 10q11.22-11.23(chr10:46269493-51874356)x1	AGAP10, AGAP4 +37 more	Copy number loss	not provided	GLikely pathogenic
Select item 1808685	GRCh37/hg19 10q11.22-11.23(chr10:46966534-51700837)x1	AGAP10, AGAP9 +32 more	Copy number loss	not provided	GLikely pathogenic
Select item 1808543	GRCh37/hg19 10q11.22(chr10:49584971-49669984)x1	ARHGAP22, MAPK8	Copy number loss	not provided	GUncertain significance
Select item 1807813	GRCh37/hg19 10q11.22-11.23(chr10:48252675-51861565)x1	PGBD3, PTPN20 +27 more	Copy number loss	not provided	GLikely pathogenic
Select item 1807739	GRCh37/hg19 10q11.22-11.23(chr10:46966534-51903756)x3	PGBD3, PTPN20 +34 more	Copy number gain	not provided	GUncertain significance
Select item 1711870	GRCh37/hg19 10q11.22-11.23(chr10:46287821-51627470)x1	AGAP10, AGAP4 +35 more	Copy number loss	See cases	GPathogenic
Select item 1707432	GRCh37/hg19 10q11.22-11.23(chr10:49378356-52467181)x1	ASAH2, AGAP6 +22 more	Copy number loss	See cases	GPathogenic
Select item 1703569	GRCh37/hg19 10q11.22-11.23(chr10:46576515-51680164)	AGAP10, AGAP9 +32 more	Copy number loss	Telangiectasia, hereditary hemorrhagic, type 5	GPathogenic
Select item 1340263	GRCh37/hg19 10q11.22-11.23(chr10:49378357-51134640)x1	ARHGAP22, C10orf53 +15 more	Copy number loss	not provided	GUncertain significance
Select item 1276513	NM_001323329.2(MAPK8):c.*154A>G	ARHGAP22, MAPK8	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1180522	GRCh37/hg19 10q11.22-11.23(chr10:48301535-51807296)x3	FAM170B, FAM25C +25 more	Copy number gain	not provided	GPathogenic
Select item 992645	GRCh37/hg19 10q11.22-11.23(chr10:46966535-51874356)x1	AGAP10, AGAP6 +34 more	Copy number loss	not provided	GLikely pathogenic
Select item 988905	GRCh37/hg19 10q11.22-11.23(chr10:49391938-51053159)x3	C10orf71, CHAT +15 more	Copy number gain	not provided	GUncertain significance
Select item 980917	GRCh37/hg19 10q11.22-11.23(chr10:49665178-50142153)x4	ARHGAP22, LRRC18 +1 more	Copy number gain	not provided	GUncertain significance
Select item 980916	GRCh37/hg19 10q11.22-11.23(chr10:48750425-51386904)x1	ARHGAP22, C10orf53 +17 more	Copy number loss	not provided	GUncertain significance
Select item 980915	GRCh37/hg19 10q11.22-11.23(chr10:49378356-51134640)x3	ARHGAP22, C10orf53 +15 more	Copy number gain	not provided	GLikely pathogenic
Select item 980914	GRCh37/hg19 10q11.22-11.23(chr10:47132305-51627470)x1	AGAP10, AGAP9 +29 more	Copy number loss	not provided	GLikely pathogenic
Select item 977791	GRCh37/hg19 10q11.22-11.23(chr10:46964973-51826226)	SLC18A3, SYT15 +33 more	Copy number loss	10q11.22q11.23 microdeletion including CHAT and SLC18A3	GPathogenic
Select item 974738	NC_000010.10:g.49033586_52417694del	CHAT, DRGX +23 more	Deletion	Megacolon	GLikely pathogenic
Select item 973065	GRCh37/hg19 10q11.22-11.23(chr10:46321318-51595050)x1	AGAP10, AGAP4 +33 more	Copy number loss	not provided	Gnot provided
Select item 815341	GRCh37/hg19 10q11.22-11.23(chr10:49389565-51122608)x1	VSTM4, CHAT +15 more	Copy number loss	not provided	GUncertain significance
Select item 806465	NM_021226.4(ARHGAP22):c.660-2A>G	ARHGAP22	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 806464	NM_021226.4(ARHGAP22):c.664A>G (p.Thr222Ala)	ARHGAP22 (T228A +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 778386	NM_001323329.2(MAPK8):c.1179G>A (p.Ser393=)	ARHGAP22, MAPK8	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 776509	NM_021226.4(ARHGAP22):c.1986G>A (p.Ala662=)	ARHGAP22	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 739612	NM_021226.4(ARHGAP22):c.553G>C (p.Glu185Gln)	ARHGAP22 (E185Q +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 708365	NM_021226.4(ARHGAP22):c.1834C>T (p.Arg612Cys)	ARHGAP22 (R522C +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign

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