ClinVar for Gene (Select 387680) - ClinVar

Links from Gene

Items: 99

	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 3189593	NM_001005751.3(WASHC2A):c.96C>A (p.Ser32Arg)	WASHC2A (S32R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189592	NM_001005751.3(WASHC2A):c.49C>T (p.Pro17Ser)	WASHC2A (P17S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189591	NM_001005751.3(WASHC2A):c.4022A>G (p.Gln1341Arg)	WASHC2A (Q1279R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189590	NM_001005751.3(WASHC2A):c.3907A>G (p.Ile1303Val)	WASHC2A (I1303V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189589	NM_001005751.3(WASHC2A):c.3881A>G (p.Asp1294Gly)	WASHC2A (D1232G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189588	NM_001005751.3(WASHC2A):c.3854T>G (p.Val1285Gly)	WASHC2A (V1264G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189587	NM_001005751.3(WASHC2A):c.3535A>G (p.Ser1179Gly)	WASHC2A (S1117G +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3189586	NM_001005751.3(WASHC2A):c.3523C>G (p.Leu1175Val)	WASHC2A (L1154V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189585	NM_001005751.3(WASHC2A):c.3400G>C (p.Asp1134His)	WASHC2A (D1072H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189584	NM_001005751.3(WASHC2A):c.3074A>G (p.His1025Arg)	WASHC2A (H1025R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189583	NM_001005751.3(WASHC2A):c.2733C>G (p.Asp911Glu)	WASHC2A (D911E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189582	NM_001005751.3(WASHC2A):c.232C>T (p.Arg78Cys)	WASHC2A (R78C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189581	NM_001005751.3(WASHC2A):c.2284G>A (p.Glu762Lys)	WASHC2A (E762K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189580	NM_001005751.3(WASHC2A):c.1902C>G (p.His634Gln)	WASHC2A (H634Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189579	NM_001005751.3(WASHC2A):c.1751G>C (p.Gly584Ala)	WASHC2A (G584A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189578	NM_001005751.3(WASHC2A):c.1706T>C (p.Leu569Ser)	WASHC2A (L569S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3189577	NM_001005751.3(WASHC2A):c.1665G>C (p.Lys555Asn)	WASHC2A (K555N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189576	NM_001005751.3(WASHC2A):c.1657G>A (p.Ala553Thr)	WASHC2A (A553T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189575	NM_001005751.3(WASHC2A):c.1646C>T (p.Ser549Phe)	WASHC2A (S549F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189574	NM_001005751.3(WASHC2A):c.1558T>A (p.Ser520Thr)	WASHC2A (S520T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189573	NM_001005751.3(WASHC2A):c.1484C>A (p.Ala495Asp)	WASHC2A (A495D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189572	NM_001005751.3(WASHC2A):c.1402A>T (p.Ser468Cys)	WASHC2A (S468C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189571	NM_001005751.3(WASHC2A):c.1331G>A (p.Gly444Asp)	WASHC2A (G444D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189570	NM_001005751.3(WASHC2A):c.1279A>C (p.Met427Leu)	WASHC2A (M427L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3189569	NM_001005751.3(WASHC2A):c.1234T>G (p.Phe412Val)	WASHC2A (F412V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189568	NM_001005751.3(WASHC2A):c.1174A>C (p.Lys392Gln)	WASHC2A (K392Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189567	NM_001005751.3(WASHC2A):c.1153C>T (p.Arg385Trp)	WASHC2A (R385W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189566	NM_001005751.3(WASHC2A):c.1144C>T (p.Pro382Ser)	WASHC2A (P382S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189565	NM_001005751.3(WASHC2A):c.1108G>A (p.Asp370Asn)	WASHC2A (D370N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189564	NM_001005751.3(WASHC2A):c.1087G>T (p.Gly363Trp)	WASHC2A (G363W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189563	NM_001005751.3(WASHC2A):c.1012G>C (p.Asp338His)	WASHC2A (D338H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685375	GRCh37/hg19 10q11.23-22.1(chr10:51735638-70791246)x1	A1CF, ADO +51 more	Copy number loss	not provided	GPathogenic
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 2640469	NM_001005751.3(WASHC2A):c.3948G>A (p.Gln1316=)	WASHC2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640468	NM_001005751.3(WASHC2A):c.3938G>A (p.Arg1313Gln)	WASHC2A (R1251Q +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2640467	NM_001005751.3(WASHC2A):c.3920C>T (p.Thr1307Ile)	WASHC2A (T1245I +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2609078	NM_001005751.3(WASHC2A):c.2801A>G (p.Glu934Gly)	WASHC2A (E934G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590939	NM_001005751.3(WASHC2A):c.1042G>A (p.Asp348Asn)	WASHC2A (D348N)	Single nucleotide variant (missense variant)	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)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2548695	NM_001005751.3(WASHC2A):c.1579C>T (p.Pro527Ser)	WASHC2A (P527S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541643	NM_001005751.3(WASHC2A):c.3238C>T (p.Arg1080Trp)	WASHC2A (R1080W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540468	NM_001005751.3(WASHC2A):c.1762G>C (p.Ala588Pro)	WASHC2A (A588P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511057	NM_001005751.3(WASHC2A):c.3284C>T (p.Ala1095Val)	WASHC2A (A1033V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510982	NM_001005751.3(WASHC2A):c.1558T>C (p.Ser520Pro)	WASHC2A (S520P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2485294	NM_001005751.3(WASHC2A):c.986G>A (p.Arg329Lys)	WASHC2A (R329K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465715	NM_001005751.3(WASHC2A):c.1091G>T (p.Gly364Val)	WASHC2A (G364V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459312	NM_001005751.3(WASHC2A):c.3868A>G (p.Ile1290Val)	WASHC2A (I1269V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458708	NM_001005751.3(WASHC2A):c.3181G>A (p.Val1061Ile)	WASHC2A (V1061I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455981	NM_001005751.3(WASHC2A):c.3725C>T (p.Thr1242Met)	WASHC2A (T1180M +2 more)	Single nucleotide variant (missense variant)	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 1807813	GRCh37/hg19 10q11.22-11.23(chr10:48252675-51861565)x1	AGAP6, ANXA8 +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 1707432	GRCh37/hg19 10q11.22-11.23(chr10:49378356-52467181)x1	ASAH2, AGAP6 +22 more	Copy number loss	See cases	GPathogenic
Select item 1340264	GRCh37/hg19 10q11.23(chr10:51735638-52476136)x1	AGAP6, ASAH2 +2 more	Copy number loss	not provided	GUncertain significance
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 980918	GRCh37/hg19 10q11.23(chr10:51753154-52166339)x3	AGAP6, ASAH2 +2 more	Copy number gain	not provided	GLikely benign
Select item 974738	NC_000010.10:g.49033586_52417694del	TMEM273, WDFY4 +23 more	Deletion	Megacolon	GLikely pathogenic
Select item 815344	GRCh37/hg19 10q11.23(chr10:51659413-52476136)x1	WASHC2A, SGMS1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 815342	GRCh37/hg19 10q11.23-21.3(chr10:50250603-69256083)x1	TIMM23, C10orf71 +50 more	Copy number loss	not provided	GPathogenic
Select item 688266	GRCh37/hg19 10q11.22-11.23(chr10:46287086-51830366)x3	AGAP10, AGAP4 +37 more	Copy number gain	not provided	GUncertain significance
Select item 687599	GRCh37/hg19 10q11.22-11.23(chr10:48252674-51830366)x3	AGAP6, ANXA8 +27 more	Copy number gain	not provided	GUncertain significance
Select item 687117	GRCh37/hg19 10q11.22-11.23(chr10:46966533-51850064)x3	AGAP10, AGAP6 +34 more	Copy number gain	not provided	GUncertain significance
Select item 686422	GRCh37/hg19 10q11.22-11.23(chr10:46235357-51874163)x1	AGAP10, AGAP4 +37 more	Copy number loss	not provided	GPathogenic
Select item 686364	GRCh37/hg19 10q11.22-11.23(chr10:46966533-51903755)x1	AGAP10, AGAP6 +34 more	Copy number loss	not provided	GPathogenic
Select item 686014	GRCh37/hg19 10q11.22-11.23(chr10:49378356-52467181)x3	AGAP6, ARHGAP22 +22 more	Copy number gain	not provided	GUncertain significance
Select item 684950	GRCh37/hg19 10q11.23(chr10:51744546-52428369)x1	SGMS1, WASHC2A +2 more	Copy number loss	not provided	GUncertain significance
Select item 624468	GRCh37/hg19 10q11.22-21.1(chr10:49390457-60061643)x1	MSMB, MTRNR2L5 +33 more	Copy number loss	not provided	GLikely pathogenic
Select item 563792	GRCh37/hg19 10q11.22-11.23(chr10:46225364-51874356)x1	NPY4R, OGDHL +37 more	Copy number loss	not provided	GLikely pathogenic
Select item 563791	GRCh37/hg19 10q11.22-11.23(chr10:46287821-51861565)x1	AGAP10, AGAP4 +37 more	Copy number loss	not provided	GPathogenic
Select item 563790	GRCh37/hg19 10q11.22-11.23(chr10:46966533-51903755)x1	AGAP10, AGAP6 +34 more	Copy number loss	not provided	GPathogenic
Select item 563789	GRCh37/hg19 10q11.22-11.23(chr10:46966533-51874356)x1	NCOA4, NPY4R +34 more	Copy number loss	not provided	GLikely pathogenic
Select item 563756	GRCh37/hg19 10q11.23(chr10:51757722-52431727)x3	AGAP6, SGMS1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 563754	GRCh37/hg19 10q11.23(chr10:51774712-52431727)x3	WASHC2A, SGMS1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 545135	Single allele	LOC130003791, LOC130003792 +109 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 495230	NC_000010.10:g.43611191_61663279inv	CCDC6, ZNF32 +75 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 443637	GRCh37/hg19 10q11.23(chr10:51735637-52479003)x1	AGAP6, ASAH2 +2 more	Copy number loss	See cases	GUncertain significance
Select item 443095	GRCh37/hg19 10q11.22-11.23(chr10:46966534-51848637)x3	AGAP10, AGAP6 +34 more	Copy number gain	See cases	GUncertain significance
Select item 442337	GRCh37/hg19 10q11.22-11.23(chr10:49381707-52467180)x3	ASAH2, C10orf53 +22 more	Copy number gain	See cases	GUncertain significance
Select item 442310	GRCh37/hg19 10q11.22-11.23(chr10:46966533-51903756)x1	AGAP10, AGAP6 +34 more	Copy number loss	See cases	GLikely pathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441949	GRCh37/hg19 10q11.22-11.23(chr10:46966534-51903756)x1	AGAP10, AGAP6 +34 more	Copy number loss	See cases	GLikely pathogenic
Select item 441790	GRCh37/hg19 10q11.22-11.23(chr10:46966534-51891907)x3	AGAP10, AGAP6 +34 more	Copy number gain	See cases	GUncertain significance
Select item 394957	GRCh37/hg19 10q11.22-11.23(chr10:49392896-52372011)x3	AGAP6, ARHGAP22 +22 more	Copy number gain	See cases	GLikely pathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	BCCIP, BEND7 +722 more	Copy number gain	See cases	GPathogenic
Select item 226205	GRCh37/hg19 10q11.23(chr10:51790819-52167537)	SGMS1, ASAH2 +1 more	Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 154900	GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3	A1CF, ADO +561 more	Copy number gain	See cases	GPathogenic
Select item 149970	GRCh38/hg38 10q11.23(chr10:49971505-50699223)x1	AGAP6, ASAH2 +32 more	Copy number loss	See cases	GUncertain significance
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 145479	GRCh38/hg38 10q11.21-11.23(chr10:42395201-50877059)x3	LOC130003758, LOC130003759 +309 more	Copy number gain	See cases	GPathogenic
Select item 144977	GRCh38/hg38 10q11.21-21.1(chr10:42884294-52265317)x3	FAM170B, FAM170B-AS1 +306 more	Copy number gain	See cases	GPathogenic
Select item 58551	GRCh38/hg38 10q11.22-11.23(chr10:45931517-50655311)x1	AGAP6, AGAP9 +147 more	Copy number loss	See cases	GPathogenic
Select item 58543	GRCh38/hg38 10q11.22-11.23(chr10:45710242-50151325)x1	AGAP10, AGAP4 +125 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 99