ClinVar for Gene (Select 253725) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3189633	NM_001330074.2(WASHC2C):c.96C>A (p.Ser32Arg)	WASHC2C (S31R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3189632	NM_001330074.2(WASHC2C):c.904A>G (p.Met302Val)	WASHC2C (M215V +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3189631	NM_001330074.2(WASHC2C):c.893A>G (p.Lys298Arg)	WASHC2C (K210R +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3189630	NM_001330074.2(WASHC2C):c.764A>T (p.Asp255Val)	WASHC2C (D168V +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3189629	NM_001330074.2(WASHC2C):c.740C>T (p.Thr247Ile)	WASHC2C (T245I +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3189628	NM_001330074.2(WASHC2C):c.73G>A (p.Val25Met)	WASHC2C (V24M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3189627	NM_001330074.2(WASHC2C):c.6G>A (p.Met2Ile)	WASHC2C (M2I +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3189626	NM_001330074.2(WASHC2C):c.593A>G (p.Asp198Gly)	WASHC2C (D197G +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3189625	NM_001330074.2(WASHC2C):c.563T>C (p.Ile188Thr)	WASHC2C (I101T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3189624	NM_001330074.2(WASHC2C):c.52G>T (p.Val18Leu)	WASHC2C (V17L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3189623	NM_001330074.2(WASHC2C):c.3019G>A (p.Gly1007Arg)	WASHC2C (G793R +22 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3189622	NM_001330074.2(WASHC2C):c.2992G>C (p.Gly998Arg)	WASHC2C (G805R +22 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3189621	NM_001330074.2(WASHC2C):c.2992G>A (p.Gly998Ser)	WASHC2C (G368S +22 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3189620	NM_001330074.2(WASHC2C):c.2974G>A (p.Glu992Lys)	WASHC2C (E1013K +22 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3189619	NM_001330074.2(WASHC2C):c.2964T>A (p.Phe988Leu)	WASHC2C (F358L +22 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3189618	NM_001330074.2(WASHC2C):c.2942C>T (p.Pro981Leu)	WASHC2C (P351L +22 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3189617	NM_001330074.2(WASHC2C):c.2795A>C (p.Lys932Thr)	WASHC2C (K857T +12 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3189616	NM_001330074.2(WASHC2C):c.2749A>C (p.Lys917Gln)	WASHC2C (K866Q +12 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3189615	NM_001330074.2(WASHC2C):c.2705G>C (p.Arg902Thr)	WASHC2C (R815T +12 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3189614	NM_001330074.2(WASHC2C):c.26A>C (p.Gln9Pro)	WASHC2C (Q9P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3189613	NM_001330074.2(WASHC2C):c.2676G>T (p.Lys892Asn)	WASHC2C (K675N +13 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3189612	NM_001330074.2(WASHC2C):c.2594C>T (p.Thr865Ile)	WASHC2C (T841I +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189611	NM_001330074.2(WASHC2C):c.2515G>A (p.Val839Ile)	WASHC2C (V622I +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189610	NM_001330074.2(WASHC2C):c.2485G>A (p.Asp829Asn)	WASHC2C (D718N +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189609	NM_001330074.2(WASHC2C):c.2173T>G (p.Leu725Val)	WASHC2C (L95V +11 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3189608	NM_001330074.2(WASHC2C):c.2143A>G (p.Lys715Glu)	WASHC2C (K604E +11 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3189607	NM_001330074.2(WASHC2C):c.208C>T (p.Arg70Trp)	WASHC2C (R70W +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3189606	NM_001330074.2(WASHC2C):c.2033A>G (p.Lys678Arg)	WASHC2C (K591R +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3189605	NM_001330074.2(WASHC2C):c.200G>A (p.Gly67Glu)	WASHC2C (G67E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3189604	NM_001330074.2(WASHC2C):c.1984A>G (p.Thr662Ala)	WASHC2C (T551A +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3189603	NM_001330074.2(WASHC2C):c.183C>G (p.Ile61Met)	WASHC2C (I61M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3189602	NM_001330074.2(WASHC2C):c.1703C>T (p.Thr568Met)	WASHC2C (T351M +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3189601	NM_001330074.2(WASHC2C):c.1685T>C (p.Leu562Pro)	WASHC2C (L475P +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3189600	NM_001330074.2(WASHC2C):c.1596G>C (p.Lys532Asn)	WASHC2C (K315N +8 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3189599	NM_001330074.2(WASHC2C):c.1328A>G (p.Tyr443Cys)	WASHC2C (Y250C +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3189598	NM_001330074.2(WASHC2C):c.1270G>A (p.Val424Ile)	WASHC2C (V231I +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3189597	NM_001330074.2(WASHC2C):c.1259G>T (p.Gly420Val)	WASHC2C (G333V +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3189596	NM_001330074.2(WASHC2C):c.1223C>T (p.Ala408Val)	WASHC2C (A355V +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3189595	NM_001330074.2(WASHC2C):c.11G>C (p.Arg4Pro)	WASHC2C (R3P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3189594	NM_001330074.2(WASHC2C):c.1124G>A (p.Ser375Asn)	WASHC2C (S158N +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3148901	GRCh37/hg19 10q11.22(chr10:46235740-48311490)x1	AGAP10, AGAP4 +9 more	Copy number loss	not provided	GUncertain significance
Select item 3148892	GRCh37/hg19 10q11.22(chr10:46235740-48220168)x3	AGAP10, AGAP4 +7 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 2640429	NM_001330074.2(WASHC2C):c.2885C>T (p.Ala962Val)	WASHC2C (A332V +22 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2640428	NM_001330074.2(WASHC2C):c.2091C>T (p.Ser697=)	WASHC2C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2640427	NM_001330074.2(WASHC2C):c.1563C>T (p.Tyr521=)	WASHC2C	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2640426	NM_001330074.2(WASHC2C):c.883G>A (p.Ala295Thr)	WASHC2C (A102T +5 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2640425	NM_001330074.2(WASHC2C):c.21C>G (p.Pro7=)	WASHC2C	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2612542	NM_001330074.2(WASHC2C):c.926C>T (p.Pro309Leu)	WASHC2C (P116L +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2601906	NM_001330074.2(WASHC2C):c.2911A>G (p.Thr971Ala)	WASHC2C (T798A +22 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2600568	NM_001330074.2(WASHC2C):c.2232G>T (p.Lys744Asn)	WASHC2C (K527N +11 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2598395	NM_001330074.2(WASHC2C):c.1885C>T (p.Pro629Ser)	WASHC2C (P605S +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2590778	NM_001330074.2(WASHC2C):c.1031C>G (p.Pro344Arg)	WASHC2C (P127R +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2588945	NM_001330074.2(WASHC2C):c.808G>A (p.Glu270Lys)	WASHC2C (E270K +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2588436	NM_001330074.2(WASHC2C):c.811G>T (p.Asp271Tyr)	WASHC2C (D269Y +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2588036	NM_001330074.2(WASHC2C):c.737C>T (p.Thr246Ile)	WASHC2C (T158I +4 more)	Single nucleotide variant (missense variant +3 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)	PIK3AP1, SVIL +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	RRP12, USP54 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2569627	NM_001330074.2(WASHC2C):c.2219A>C (p.Lys740Thr)	WASHC2C (K629T +11 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2558889	NM_001330074.2(WASHC2C):c.887G>A (p.Arg296His)	WASHC2C (R243H +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2551351	NM_001330074.2(WASHC2C):c.2455G>C (p.Ala819Pro)	WASHC2C (A626P +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545791	NM_001330074.2(WASHC2C):c.2299G>A (p.Gly767Arg)	WASHC2C (G137R +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535156	NM_001330074.2(WASHC2C):c.815T>C (p.Ile272Thr)	WASHC2C (I185T +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2533801	NM_001330074.2(WASHC2C):c.1391C>T (p.Ser464Leu)	WASHC2C (S411L +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2529476	NM_001330074.2(WASHC2C):c.3037G>A (p.Val1013Met)	WASHC2C (V1013M +22 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2526763	NM_001330074.2(WASHC2C):c.886C>T (p.Arg296Cys)	WASHC2C (R103C +5 more)	Single nucleotide variant (missense variant +2 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 2485839	NM_001330074.2(WASHC2C):c.582G>A (p.Met194Ile)	WASHC2C (M107I +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2479020	NM_001330074.2(WASHC2C):c.2752C>T (p.His918Tyr)	WASHC2C (H701Y +12 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2468846	NM_001330074.2(WASHC2C):c.1798G>C (p.Glu600Gln)	WASHC2C (E26D +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2458696	NM_001330074.2(WASHC2C):c.1083C>G (p.Phe361Leu)	WASHC2C (F168L +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2457528	NM_001330074.2(WASHC2C):c.1456G>A (p.Glu486Lys)	WASHC2C (E433K +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	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 1711870	GRCh37/hg19 10q11.22-11.23(chr10:46287821-51627470)x1	AGAP10, AGAP4 +35 more	Copy number loss	See cases	GPathogenic
Select item 1340112	GRCh37/hg19 10q11.22(chr10:46189526-46293591)x1	WASHC2C	Copy number loss	not provided	GLikely benign
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ACBD7, ABI1 +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
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 686422	GRCh37/hg19 10q11.22-11.23(chr10:46235357-51874163)x1	AGAP10, AGAP4 +37 more	Copy number loss	not provided	GPathogenic
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 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 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 443047	GRCh37/hg19 10q11.21-11.22(chr10:45997573-46293591)x1	MARCHF8, WASHC2C +1 more	Copy number loss	See cases	GLikely benign
Select item 443043	GRCh37/hg19 10q11.21-11.22(chr10:45618211-46293591)x3	ALOX5, MARCHF8 +3 more	Copy number gain	See cases	GUncertain significance
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 394394	GRCh37/hg19 10q11.22(chr10:46224446-46321318)x3	AGAP4, FAM25E +1 more	Copy number gain	See cases	GBenign
Select item 394170	GRCh37/hg19 10q11.22-11.23(chr10:46224446-51594991)x1	AGAP10, AGAP4 +35 more	Copy number loss	See cases	GPathogenic
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 253563	GRCh37/hg19 10q11.22-11.23(chr10:46242057-51595050)x3	AGAP10, AGAP4 +35 more	Copy number gain	See cases	GPathogenic
Select item 157160	Single allele	AGAP10, AGAP4 +6 more	Duplication	Gestational diabetes mellitus uncontrolled	Gnot provided
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 154709	GRCh38/hg38 10q11.22-11.23(chr10:45710242-49929364)x1	AGAP10, AGAP4 +118 more	Copy number loss	See cases	GPathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	AGAP4, AGAP9 +1221 more	Copy number gain	See cases	GBenign
Select item 152819	GRCh38/hg38 10q11.21-11.22(chr10:45247429-45768908)x3	ALOX5, LOC102724323 +14 more	Copy number gain	See cases	GLikely benign
Select item 151967	GRCh38/hg38 10q11.22-11.23(chr10:45788078-50066466)x1	AGAP10, AGAP4 +122 more	Copy number loss	See cases	GUncertain significance
Select item 146781	GRCh38/hg38 10q11.22-11.23(chr10:45710248-50021141)x1	RBP3, SLC18A3 +123 more	Copy number loss	See cases	GPathogenic
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic

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