ClinVar for Gene (Select 9824) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3310725	NM_014783.6(ARHGAP11A):c.2062A>G (p.Ile688Val)	ARHGAP11A, ARHGAP11A-SCG5 (I688V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310715	NM_014783.6(ARHGAP11A):c.907C>A (p.Pro303Thr)	ARHGAP11A, ARHGAP11A-SCG5 (P303T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310703	NM_014783.6(ARHGAP11A):c.154A>C (p.Asn52His)	ARHGAP11A, ARHGAP11A-SCG5 (N52H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310692	NM_014783.6(ARHGAP11A):c.340C>G (p.Pro114Ala)	ARHGAP11A, ARHGAP11A-SCG5 (P114A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310683	NM_014783.6(ARHGAP11A):c.1597G>A (p.Asp533Asn)	ARHGAP11A, ARHGAP11A-SCG5 (D344N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148920	GRCh37/hg19 15q13.3-14(chr15:31677578-34254499)x3	ARHGAP11A, AVEN +7 more	Copy number gain	not provided	GUncertain significance
Select item 3128494	NM_014783.6(ARHGAP11A):c.977C>A (p.Ala326Asp)	ARHGAP11A, ARHGAP11A-SCG5 (A326D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128493	NM_014783.6(ARHGAP11A):c.770G>T (p.Gly257Val)	ARHGAP11A, ARHGAP11A-SCG5 (G257V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128492	NM_014783.6(ARHGAP11A):c.359T>A (p.Leu120His)	ARHGAP11A, ARHGAP11A-SCG5 (L120H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128491	NM_014783.6(ARHGAP11A):c.338C>T (p.Pro113Leu)	ARHGAP11A, ARHGAP11A-SCG5 (P113L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3128490	NM_014783.6(ARHGAP11A):c.308A>G (p.Asp103Gly)	ARHGAP11A, ARHGAP11A-SCG5 (D103G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128489	NM_014783.6(ARHGAP11A):c.2766G>T (p.Glu922Asp)	ARHGAP11A, ARHGAP11A-SCG5 (E733D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128488	NM_014783.6(ARHGAP11A):c.249A>T (p.Glu83Asp)	ARHGAP11A, ARHGAP11A-SCG5 (E83D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128487	NM_014783.6(ARHGAP11A):c.2338A>G (p.Met780Val)	ARHGAP11A, ARHGAP11A-SCG5 (M591V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3128486	NM_014783.6(ARHGAP11A):c.2285C>G (p.Ser762Cys)	ARHGAP11A, ARHGAP11A-SCG5 (S573C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128485	NM_014783.6(ARHGAP11A):c.1934A>G (p.Glu645Gly)	ARHGAP11A, ARHGAP11A-SCG5 (E645G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128483	NM_014783.6(ARHGAP11A):c.1678C>A (p.Pro560Thr)	ARHGAP11A, ARHGAP11A-SCG5 (P371T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128482	NM_014783.6(ARHGAP11A):c.1556T>G (p.Met519Arg)	ARHGAP11A, ARHGAP11A-SCG5 (M519R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128481	NM_014783.6(ARHGAP11A):c.1409T>C (p.Leu470Ser)	ARHGAP11A, ARHGAP11A-SCG5 (L281S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128480	NM_014783.6(ARHGAP11A):c.1267C>T (p.Pro423Ser)	ARHGAP11A, ARHGAP11A-SCG5 (P423S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128479	NM_014783.6(ARHGAP11A):c.1162A>G (p.Ile388Val)	ARHGAP11A, ARHGAP11A-SCG5 (I388V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128478	NM_014783.6(ARHGAP11A):c.115G>A (p.Ala39Thr)	ARHGAP11A, ARHGAP11A-SCG5 +1 more (A39T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063381	GRCh37/hg19 15q11.2-14(chr15:22836883-39108014)x1	ACTC1, APBA2 +72 more	Copy number loss	not specified	GPathogenic
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 3063358	GRCh37/hg19 15q13.2-13.3(chr15:30913573-32914239)x1	ARHGAP11A, ARHGAP11B +9 more	Copy number loss	not specified	GPathogenic
Select item 2690935	GRCh37/hg19 15q13.2-13.3(chr15:30730511-32914199)x3	ARHGAP11A, ARHGAP11B +11 more	Copy number gain	See cases	GUncertain significance
Select item 2685508	GRCh37/hg19 15q13.3-14(chr15:32914240-34671790)x1	AVEN, CHRM5 +13 more	Copy number loss	not provided	GUncertain significance
Select item 2685507	GRCh37/hg19 15q13.3-14(chr15:32914239-34780626)x1	ARHGAP11A, AVEN +13 more	Copy number loss	not provided	GUncertain significance
Select item 2684749	GRCh37/hg19 15q11.2-13.3(chr15:22770422-32915593)x3	APBA2, ARHGAP11A +45 more	Copy number gain	not provided	GPathogenic
Select item 2684748	GRCh37/hg19 15q11.2-14(chr15:22770422-36556562)x3	ACTC1, APBA2 +65 more	Copy number gain	not provided	GPathogenic
Select item 2627559	GRCh37/hg19 15q13.2-13.3(chr15:30653877-32914199)x3	MIR211, MTMR10 +13 more	Copy number gain	See cases	GUncertain significance
Select item 2614989	NM_014783.6(ARHGAP11A):c.2867G>A (p.Gly956Asp)	ARHGAP11A, ARHGAP11A-SCG5 (G956D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611302	NM_014783.6(ARHGAP11A):c.59G>T (p.Gly20Val)	ARHGAP11A, ARHGAP11A-SCG5 +1 more (G20V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605425	NM_014783.6(ARHGAP11A):c.2633G>T (p.Gly878Val)	ARHGAP11A, ARHGAP11A-SCG5 (G689V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601604	NM_014783.6(ARHGAP11A):c.2633G>C (p.Gly878Ala)	ARHGAP11A, ARHGAP11A-SCG5 (G878A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570031	NM_014783.6(ARHGAP11A):c.3028G>A (p.Gly1010Arg)	ARHGAP11A, ARHGAP11A-SCG5 (G1010R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560186	NM_014783.6(ARHGAP11A):c.311A>G (p.His104Arg)	ARHGAP11A, ARHGAP11A-SCG5 (H104R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2550264	NM_014783.6(ARHGAP11A):c.1895C>A (p.Pro632Gln)	ARHGAP11A, ARHGAP11A-SCG5 (P632Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542834	NM_014783.6(ARHGAP11A):c.1445T>A (p.Leu482His)	ARHGAP11A, ARHGAP11A-SCG5 (L482H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514590	NM_014783.6(ARHGAP11A):c.964C>T (p.Leu322Phe)	ARHGAP11A, ARHGAP11A-SCG5 (L133F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480889	NM_014783.6(ARHGAP11A):c.2387C>T (p.Ser796Phe)	ARHGAP11A, ARHGAP11A-SCG5 (S796F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466753	NM_014783.6(ARHGAP11A):c.990G>T (p.Leu330Phe)	ARHGAP11A, ARHGAP11A-SCG5 (L141F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465666	NM_014783.6(ARHGAP11A):c.2363T>C (p.Leu788Ser)	ARHGAP11A, ARHGAP11A-SCG5 (L788S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425861	NC_000015.9:g.(?_31196867)_(34112028_?)dup	ARHGAP11A, CHRNA7 +11 more	Duplication	Familial colorectal cancer	GUncertain significance
Select item 2425859	NC_000015.9:g.(?_32393486)_(34030811_?)dup	RYR3, ARHGAP11A +5 more	Duplication	Familial colorectal cancer	GUncertain significance
Select item 2403899	NM_014783.6(ARHGAP11A):c.1388G>A (p.Arg463Gln)	ARHGAP11A, ARHGAP11A-SCG5 (R274Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401328	NM_014783.6(ARHGAP11A):c.2465C>T (p.Pro822Leu)	ARHGAP11A, ARHGAP11A-SCG5 (P633L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400093	NM_014783.6(ARHGAP11A):c.2246C>T (p.Pro749Leu)	ARHGAP11A, ARHGAP11A-SCG5 (P749L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2387734	NM_014783.6(ARHGAP11A):c.1264T>C (p.Ser422Pro)	ARHGAP11A, ARHGAP11A-SCG5 (S422P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366534	NM_014783.6(ARHGAP11A):c.748C>A (p.Pro250Thr)	ARHGAP11A, ARHGAP11A-SCG5 (P250T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337629	NM_014783.6(ARHGAP11A):c.2549A>C (p.Glu850Ala)	ARHGAP11A, ARHGAP11A-SCG5 (E661A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333397	NM_014783.6(ARHGAP11A):c.1168G>A (p.Gly390Arg)	ARHGAP11A, ARHGAP11A-SCG5 (G201R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315284	NM_014783.6(ARHGAP11A):c.641C>T (p.Ser214Phe)	ARHGAP11A, ARHGAP11A-SCG5 (S214F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313524	NM_014783.6(ARHGAP11A):c.1435A>G (p.Thr479Ala)	ARHGAP11A, ARHGAP11A-SCG5 (T479A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300948	NM_014783.6(ARHGAP11A):c.2245C>T (p.Pro749Ser)	ARHGAP11A, ARHGAP11A-SCG5 (P560S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295656	NM_014783.6(ARHGAP11A):c.797G>A (p.Gly266Asp)	ARHGAP11A, ARHGAP11A-SCG5 (G266D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288710	NM_014783.6(ARHGAP11A):c.2960A>T (p.Asn987Ile)	ARHGAP11A, ARHGAP11A-SCG5 (N987I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257823	NM_014783.6(ARHGAP11A):c.752C>T (p.Ala251Val)	ARHGAP11A, ARHGAP11A-SCG5 (A251V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248637	NM_014783.6(ARHGAP11A):c.1127A>G (p.Glu376Gly)	ARHGAP11A, ARHGAP11A-SCG5 (E376G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245851	NM_014783.6(ARHGAP11A):c.1810T>G (p.Ser604Ala)	ARHGAP11A, ARHGAP11A-SCG5 (S604A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242466	NM_014783.6(ARHGAP11A):c.2935A>G (p.Met979Val)	ARHGAP11A, ARHGAP11A-SCG5 (M979V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237950	NM_014783.6(ARHGAP11A):c.2472A>T (p.Arg824Ser)	ARHGAP11A, ARHGAP11A-SCG5 (R635S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212772	NM_014783.6(ARHGAP11A):c.1661T>C (p.Ile554Thr)	ARHGAP11A, ARHGAP11A-SCG5 (I554T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808362	GRCh37/hg19 15q13.3-14(chr15:32915723-33880508)x3	ARHGAP11A, GREM1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1808319	GRCh37/hg19 15q13.2-13.3(chr15:31073669-32915593)x3	ARHGAP11A, CHRNA7 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1712253	GRCh37/hg19 15q13.3-14(chr15:32915722-34671601)x3	KATNBL1, NUTM1 +13 more	Copy number gain	See cases	GPathogenic
Select item 1703668	GRCh37/hg19 15q13.2-13.3(chr15:31098690-32914240)	ARHGAP11A, CHRNA7 +8 more	Copy number loss	Chromosome 15q13.3 microdeletion syndrome	GPathogenic
Select item 1684562	GRCh37/hg19 15q13.2-13.3(chr15:30783603-32914393)x1	ARHGAP11A, ARHGAP11B +10 more	Copy number loss	See cases	GPathogenic
Select item 980027	GRCh37/hg19 15q13.3-14(chr15:32914238-34879217)x1	GOLGA8B, GOLGA8A +14 more	Copy number loss	not provided	GUncertain significance
Select item 979417	GRCh37/hg19 15q13.2-13.3(chr15:30386398-32915089)x3	CHRFAM7A, ARHGAP11A +11 more	Copy number gain	not provided	GUncertain significance
Select item 979414	GRCh37/hg19 15q13.1-14(chr15:28709714-34506805)x3	MTMR10, APBA2 +25 more	Copy number gain	not provided	GLikely pathogenic
Select item 815698	GRCh37/hg19 15q13.3-14(chr15:31675452-35689958)x1	ACTC1, AQR +23 more	Copy number loss	not provided	GPathogenic
Select item 815687	GRCh37/hg19 15q11.2-14(chr15:22770421-36861479)x1	ACTC1, APBA2 +65 more	Copy number loss	not provided	GPathogenic
Select item 815686	GRCh37/hg19 15q11.2-13.3(chr15:22770421-32915089)x4	ENTREP2, APBA2 +45 more	Copy number gain	not provided	GPathogenic
Select item 793487	NM_014783.6(ARHGAP11A):c.790C>T (p.Leu264=)	ARHGAP11A, ARHGAP11A-SCG5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 785480	NM_014783.6(ARHGAP11A):c.985A>G (p.Thr329Ala)	ARHGAP11A, ARHGAP11A-SCG5 (T329A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 784682	NM_014783.6(ARHGAP11A):c.997G>C (p.Asp333His)	ARHGAP11A, ARHGAP11A-SCG5 (D144H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 781160	NM_014783.6(ARHGAP11A):c.2934C>T (p.Asn978=)	ARHGAP11A, ARHGAP11A-SCG5	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 781159	NM_014783.6(ARHGAP11A):c.1235+5T>G	ARHGAP11A, ARHGAP11A-SCG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 781158	NM_014783.6(ARHGAP11A):c.1200G>A (p.Arg400=)	ARHGAP11A, ARHGAP11A-SCG5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781157	NM_014783.6(ARHGAP11A):c.1098G>A (p.Pro366=)	ARHGAP11A, ARHGAP11A-SCG5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 779159	NM_014783.6(ARHGAP11A):c.2709G>A (p.Gln903=)	ARHGAP11A, ARHGAP11A-SCG5	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 744184	NM_014783.6(ARHGAP11A):c.1989T>C (p.Gly663=)	ARHGAP11A, ARHGAP11A-SCG5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 713581	NM_014783.6(ARHGAP11A):c.327A>G (p.Leu109=)	ARHGAP11A, ARHGAP11A-SCG5	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 686130	GRCh37/hg19 15q13.3-14(chr15:32915592-34671601)x3	ARHGAP11A, AVEN +13 more	Copy number gain	not provided	GUncertain significance
Select item 685306	GRCh37/hg19 15q11.1-13.3(chr15:20179527-32998070)x3	APBA2, ARHGAP11A +52 more	Copy number gain	not provided	GPathogenic
Select item 635876	Single allele	ARHGAP11A, ARHGAP11B +11 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 625748	GRCh37/hg19 15q13.2-13.3(chr15:30927362-32929514)	ARHGAP11A, ARHGAP11B +9 more	Copy number gain	not provided	GLikely pathogenic
Select item 625714	GRCh37/hg19 15q11.2-13.3(chr15:22383299-32917689)	APBA2, ARHGAP11A +47 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 625711	GRCh37/hg19 15q11.2-13.3(chr15:20848750-32925141)	APBA2, ARHGAP11A +50 more	Copy number loss	Prader-Willi syndrome +1 more	GPathogenic
Select item 564192	GRCh37/hg19 15q13.3-14(chr15:32920693-34868996)x3	EMC4, EMC7 +14 more	Copy number gain	not provided	GUncertain significance
Select item 564191	GRCh37/hg19 15q13.3-14(chr15:32446829-34868996)x1	ARHGAP11A, AVEN +17 more	Copy number loss	not provided	GLikely pathogenic
Select item 564184	GRCh37/hg19 15q13.2-13.3(chr15:31073735-32914240)x1	OTUD7A, TRPM1 +8 more	Copy number loss	not provided	GPathogenic
Select item 564180	GRCh37/hg19 15q13.2-13.3(chr15:30913573-32914239)x1	ARHGAP11A, ARHGAP11B +9 more	Copy number loss	not provided	GPathogenic
Select item 564150	GRCh37/hg19 15q11.2-13.3(chr15:22770421-33098520)x3,4	APBA2, ARHGAP11A +47 more	Copy number gain	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 443007	GRCh37/hg19 15q13.1-14(chr15:28828167-34509383)x3	APBA2, ARHGAP11A +25 more	Copy number gain	See cases	GUncertain significance
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 442757	GRCh37/hg19 15q13.3(chr15:32914239-33484337)x1	ARHGAP11A, GREM1 +1 more	Copy number loss	See cases	GLikely benign

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