26545[HGNC] - ClinVar

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Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 more	Copy number loss	See cases	GPathogenic
Select item 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 more	Copy number loss	See cases	GPathogenic
Select item 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	LOC130006596, LOC130006597 +387 more	Copy number loss	See cases	GPathogenic
Select item 147379	GRCh38/hg38 11q22.1-22.3(chr11:98357901-106059146)x1	LOC132089949, LOC132089950 +149 more	Copy number loss	See cases	GPathogenic
Select item 153913	GRCh38/hg38 11q22.1(chr11:100019656-100758582)x3	ARHGAP42, ARHGAP42-AS1 +9 more	Copy number gain	See cases	GUncertain significance
Select item 57211	GRCh38/hg38 11q22.1(chr11:100042662-100756524)x3	ARHGAP42, ARHGAP42-AS1 +9 more	Copy number gain	See cases	GUncertain significance
Select item 58184	GRCh38/hg38 11q22.1(chr11:100325350-100842425)x3	ARHGAP42, ARHGAP42-AS1 +8 more	Copy number gain	See cases	GUncertain significance
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 3312350	NM_152432.4(ARHGAP42):c.140T>C (p.Ile47Thr)	ARHGAP42, ARHGAP42-AS1 +1 more (I47T)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3312359	NM_152432.4(ARHGAP42):c.276A>T (p.Arg92Ser)	ARHGAP42 (R92S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 599287	t(11;18)(q11.2;q12.2)	ARHGAP42	Translocation	not provided	GLikely pathogenic
Select item 2232573	NM_152432.4(ARHGAP42):c.457G>A (p.Ala153Thr)	ARHGAP42 (A153T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244430	NM_152432.4(ARHGAP42):c.502G>T (p.Asp168Tyr)	ARHGAP42 (D168Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275067	NM_152432.4(ARHGAP42):c.518A>T (p.Asn173Ile)	ARHGAP42 (N79I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363610	NM_152432.4(ARHGAP42):c.524A>G (p.Tyr175Cys)	ARHGAP42 (Y81C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128869	NM_152432.4(ARHGAP42):c.646G>A (p.Glu216Lys)	ARHGAP42 (E122K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226915	NM_152432.4(ARHGAP42):c.740A>G (p.Glu247Gly)	ARHGAP42 (E153G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593314	NM_152432.4(ARHGAP42):c.788C>T (p.Pro263Leu)	ARHGAP42 (P169L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483747	NM_152432.4(ARHGAP42):c.821T>C (p.Val274Ala)	ARHGAP42 (V180A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456288	NM_152432.4(ARHGAP42):c.935A>G (p.Asn312Ser)	ARHGAP42 (N312S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607345	NM_152432.4(ARHGAP42):c.940C>T (p.Leu314Phe)	ARHGAP42 (L314F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336675	NM_152432.4(ARHGAP42):c.949A>G (p.Ser317Gly)	ARHGAP42 (S223G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512496	NM_152432.4(ARHGAP42):c.955C>T (p.Pro319Ser)	ARHGAP42 (P225S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128870	NM_152432.4(ARHGAP42):c.956C>T (p.Pro319Leu)	ARHGAP42 (P225L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262781	NM_152432.4(ARHGAP42):c.998A>G (p.Asp333Gly)	ARHGAP42 (D239G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128860	NM_152432.4(ARHGAP42):c.1045C>T (p.His349Tyr)	ARHGAP42 (H255Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312369	NM_152432.4(ARHGAP42):c.1067C>G (p.Ala356Gly)	ARHGAP42 (A262G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606219	NM_152432.4(ARHGAP42):c.1079C>T (p.Ala360Val)	ARHGAP42 (A266V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490368	NM_152432.4(ARHGAP42):c.1082A>G (p.Asn361Ser)	ARHGAP42 (N361S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128861	NM_152432.4(ARHGAP42):c.1150A>C (p.Lys384Gln)	ARHGAP42 (K290Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609422	NM_152432.4(ARHGAP42):c.1333A>G (p.Ile445Val)	ARHGAP42 (I351V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321516	NM_152432.4(ARHGAP42):c.1349A>G (p.Asn450Ser)	ARHGAP42 (N356S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128862	NM_152432.4(ARHGAP42):c.1571A>G (p.Gln524Arg)	ARHGAP42 (Q524R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312378	NM_152432.4(ARHGAP42):c.1675A>G (p.Ile559Val)	ARHGAP42 (I559V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128863	NM_152432.4(ARHGAP42):c.1844C>A (p.Ala615Asp)	ARHGAP42 (A521D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128864	NM_152432.4(ARHGAP42):c.1846G>A (p.Glu616Lys)	ARHGAP42 (E522K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333981	NM_152432.4(ARHGAP42):c.2018G>A (p.Gly673Glu)	ARHGAP42 (G673E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312377	NM_152432.4(ARHGAP42):c.2081A>G (p.Lys694Arg)	ARHGAP42 (K600R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482150	NM_152432.4(ARHGAP42):c.2203G>C (p.Ala735Pro)	ARHGAP42 (A735P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128865	NM_152432.4(ARHGAP42):c.2206T>G (p.Ser736Ala)	ARHGAP42 (S736A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2272560	NM_152432.4(ARHGAP42):c.2210C>T (p.Ser737Phe)	ARHGAP42 (S643F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128866	NM_152432.4(ARHGAP42):c.2309C>T (p.Pro770Leu)	ARHGAP42 (P770L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354733	NM_152432.4(ARHGAP42):c.2343A>T (p.Arg781Ser)	ARHGAP42 (R687S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384155	NM_152432.4(ARHGAP42):c.2380C>T (p.Arg794Trp)	ARHGAP42 (R700W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322206	NM_152432.4(ARHGAP42):c.2387G>C (p.Gly796Ala)	ARHGAP42 (G702A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617042	NM_152432.4(ARHGAP42):c.2440C>G (p.Pro814Ala)	ARHGAP42 (P814A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128867	NM_152432.4(ARHGAP42):c.2446T>C (p.Ser816Pro)	ARHGAP42 (S722P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128868	NM_152432.4(ARHGAP42):c.2450C>T (p.Ser817Phe)	ARHGAP42 (S723F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609009	NM_152432.4(ARHGAP42):c.2501A>G (p.Glu834Gly)	ARHGAP42 (E740G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286848	NM_152432.4(ARHGAP42):c.*3518A>G	ARHGAP42, TMEM133	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 3326783	NM_152432.4(ARHGAP42):c.*3526G>A	ARHGAP42, TMEM133	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 2482969	NM_152432.4(ARHGAP42):c.*3551G>T	ARHGAP42, TMEM133	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 2264203	NM_152432.4(ARHGAP42):c.*3554C>T	ARHGAP42, TMEM133	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 2333132	NM_152432.4(ARHGAP42):c.*3622C>T	ARHGAP42, TMEM133	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 3178783	NM_152432.4(ARHGAP42):c.*3632A>T	ARHGAP42, TMEM133	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 3326784	NM_152432.4(ARHGAP42):c.*3634A>C	ARHGAP42, TMEM133	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 2588657	NM_152432.4(ARHGAP42):c.*3714T>G	ARHGAP42, TMEM133	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 3178784	NM_152432.4(ARHGAP42):c.*3793C>A	ARHGAP42, TMEM133	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 3178785	NM_152432.4(ARHGAP42):c.*3826G>A	ARHGAP42, TMEM133	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 2460080	NM_152432.4(ARHGAP42):c.*3870C>A	ARHGAP42, TMEM133	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 3063222	GRCh37/hg19 11q22.1(chr11:100770764-101584390)x3	ARHGAP42, PGR +2 more	Copy number gain	not specified	GUncertain significance
Select item 3063219	GRCh37/hg19 11q22.1(chr11:100556614-100589005)x1	ARHGAP42	Copy number loss	not specified	GUncertain significance
Select item 2684654	GRCh37/hg19 11q21-22.3(chr11:97147292-102979905)x3	ANGPTL5, ARHGAP42 +20 more	Copy number gain	not provided	GUncertain significance
Select item 1809349	GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1	AMOTL1, ANGPTL5 +93 more	Copy number loss	not provided	GPathogenic
Select item 1809295	GRCh37/hg19 11q22.1(chr11:99890389-100629313)x3	ARHGAP42, CNTN5	Copy number gain	not provided	GUncertain significance
Select item 1808991	GRCh37/hg19 11q22.1(chr11:99897763-100633673)x3	ARHGAP42, CNTN5	Copy number gain	not provided	GUncertain significance
Select item 1808333	GRCh37/hg19 11q22.1(chr11:100711072-100895455)x1	ARHGAP42, TMEM133	Copy number loss	not provided	GUncertain significance
Select item 1808313	GRCh37/hg19 11q22.1(chr11:99889696-100633673)x4	ARHGAP42, CNTN5	Copy number gain	not provided	GUncertain significance
Select item 1807932	GRCh37/hg19 11q22.1-22.3(chr11:99059204-103281943)x3	ANGPTL5, ARHGAP42 +22 more	Copy number gain	not provided	GUncertain significance
Select item 1807796	GRCh37/hg19 11q22.1-22.3(chr11:98770072-104602846)x1	ANGPTL5, ARHGAP42 +24 more	Copy number loss	not provided	GLikely pathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527666	GRCh37/hg19 11q22.1(chr11:99889836-100629313)	ARHGAP42, CNTN5	Copy number gain	not specified	GUncertain significance
Select item 1341037	GRCh37/hg19 11q22.1(chr11:99617128-100681379)x3	ARHGAP42, CNTN5	Copy number gain	not provided	GUncertain significance
Select item 1340870	GRCh37/hg19 11q22.1(chr11:100183922-101781251)x3	ANGPTL5, ARHGAP42 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	AASDHPPT, ACAT1 +182 more	Copy number loss	not provided	GUncertain significance
Select item 1075501	NC_000011.9:g.(?_94153285)_(111965700_?)del	FDXACB1, FUT4 +94 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815461	GRCh37/hg19 11q22.1(chr11:99635536-100681379)x3	CNTN5, ARHGAP42	Copy number gain	not provided	GUncertain significance
Select item 815460	GRCh37/hg19 11q22.1(chr11:99617127-100681379)x3	ARHGAP42, CNTN5	Copy number gain	not provided	GUncertain significance
Select item 688759	GRCh37/hg19 11q22.1(chr11:99889533-100634004)x3	ARHGAP42, CNTN5	Copy number gain	not provided	GUncertain significance
Select item 687702	GRCh37/hg19 11q22.1(chr11:99889533-100634004)x3	ARHGAP42, CNTN5	Copy number gain	not provided	GUncertain significance
Select item 687327	GRCh37/hg19 11q22.1(chr11:99889533-100633552)x3	ARHGAP42, CNTN5	Copy number gain	not provided	GUncertain significance
Select item 685120	GRCh37/hg19 11q22.1(chr11:99889533-100633552)x3	ARHGAP42, CNTN5	Copy number gain	not provided	GUncertain significance
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 563858	GRCh37/hg19 11q22.1(chr11:99890388-100629313)x3	ARHGAP42, CNTN5	Copy number gain	not provided	GUncertain significance
Select item 563854	GRCh37/hg19 11q22.1(chr11:100507403-101123672)x3	PGR, TMEM133 +1 more	Copy number gain	not provided	GLikely benign
Select item 563828	GRCh37/hg19 11q22.1(chr11:100573125-100785436)x1	ARHGAP42	Copy number loss	not provided	GUncertain significance
Select item 442680	GRCh37/hg19 11q22.1-22.3(chr11:98515900-104970876)x1	ANGPTL5, ARHGAP42 +29 more	Copy number loss	See cases	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441837	GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1	AASDHPPT, ACAT1 +95 more	Copy number loss	See cases	GPathogenic

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Items: 91