ARHGAP11A-SCG5[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151938	GRCh38/hg38 15q11.1-13.3(chr15:19840581-32621939)x4	APBA2, ARHGAP11A +264 more	Copy number gain	See cases	GPathogenic
Select item 149530	GRCh38/hg38 15q11.2-14(chr15:23319714-38545325)x3	ACTC1, APBA2 +363 more	Copy number gain	See cases	GPathogenic
Select item 146702	GRCh38/hg38 15q11.2-14(chr15:23319714-38089582)x1	ACTC1, APBA2 +346 more	Copy number loss	See cases	GPathogenic
Select item 155138	GRCh38/hg38 15q11.2-14(chr15:25033869-37204304)x1	ARHGAP11B, ARHGAP11B-DT +314 more	Copy number loss	See cases	GPathogenic
Select item 148191	GRCh38/hg38 15q13.2-13.3(chr15:30361674-32621998)x1	LOC128899999, LOC129390679 +43 more	Copy number loss	See cases	GPathogenic
Select item 57845	GRCh38/hg38 15q13.2-13.3(chr15:30361674-32630901)x1	ARHGAP11A, ARHGAP11A-DT +43 more	Copy number loss	See cases	GPathogenic
Select item 148789	GRCh38/hg38 15q13.2-13.3(chr15:30527262-32621998)x3	ARHGAP11A, ARHGAP11A-DT +40 more	Copy number gain	See cases	GUncertain significance
Select item 149194	GRCh38/hg38 15q13.2-13.3(chr15:30629714-32621998)x1	ARHGAP11A, ARHGAP11A-DT +33 more	Copy number loss	See cases	GPathogenic
Select item 57876	GRCh38/hg38 15q13.3-14(chr15:32326136-39394068)x1	LOC132090301, LOC132090302 +178 more	Copy number loss	See cases	GPathogenic
Select item 57451	GRCh38/hg38 15q13.3-14(chr15:32607298-35200429)x3	ACTC1, AQR +93 more	Copy number gain	See cases	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 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 793487	NM_014783.6(ARHGAP11A):c.790C>T (p.Leu264=)	ARHGAP11A, ARHGAP11A-SCG5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 242613	NM_014783.4:c.932G>T	ARHGAP11A, ARHGAP11A-SCG5 (R311I +1 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
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 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 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 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 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 781157	NM_014783.6(ARHGAP11A):c.1098G>A (p.Pro366=)	ARHGAP11A, ARHGAP11A-SCG5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 154262	GRCh38/hg38 15q13.3(chr15:32632993-32806319)x3	ARHGAP11A, ARHGAP11A-SCG5 +7 more	Copy number gain	See cases	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 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 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 781158	NM_014783.6(ARHGAP11A):c.1200G>A (p.Arg400=)	ARHGAP11A, ARHGAP11A-SCG5	Single nucleotide variant (synonymous variant)	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 153142	GRCh38/hg38 15q13.3(chr15:32633290-32781366)x3	FMN1, ARHGAP11A +7 more	Copy number gain	See cases	GUncertain significance
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 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 242612	NM_014783.4:c.1355C>G	ARHGAP11A, ARHGAP11A-SCG5 (S452C +1 more)	Single nucleotide variant (missense variant +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 57877	GRCh38/hg38 15q13.3-15.1(chr15:32635803-40233825)x1	ACTC1, AQR +219 more	Copy number loss	See cases	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 225089	NM_014783.6(ARHGAP11A):c.2370_2371del (p.Thr790_Cys791insTer)	ARHGAP11A, ARHGAP11A-SCG5	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GLikely pathogenic
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 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 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 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 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 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 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 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 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 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 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 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 3024374	GRCh38/hg38 15q13.3-14(chr15:32640661-34525062)	LOC130056751, LOC130056752 +62 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 1316472	NC_000015.10:g.32641409AT[1]	ARHGAP11A-SCG5, SCG5	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1318016	NM_001144757.3(SCG5):c.-68C>T	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1318011	NM_001144757.3(SCG5):c.-68C>G	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1287486	NM_001144757.3(SCG5):c.-32A>T	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1229884	NM_001144757.3(SCG5):c.-8+114G>A	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270848	NM_001144757.3(SCG5):c.-7-60T>C	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3158398	NM_001144757.3(SCG5):c.11G>A (p.Arg4Lys)	ARHGAP11A-SCG5, SCG5 (R418K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645126	NM_001144757.3(SCG5):c.72A>G (p.Ala24=)	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1244454	NM_001144757.3(SCG5):c.226+129T>C	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318313	NM_001144757.3(SCG5):c.226+175A>G	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 583730	NC_000015.9:g.(?_32964740)_(33023456_?)dup	ARHGAP11A-SCG5, SCG5-AS1 +4 more	Duplication	Familial colorectal cancer	GUncertain significance
Select item 476578	NC_000015.9:g.(?_32964740)_(33004759_?)dup	ARHGAP11A-SCG5, GREM1 +3 more	Duplication	Familial colorectal cancer	GUncertain significance
Select item 476577	NC_000015.9:g.(?_32964740)_(32988830_?)dup	ARHGAP11A-SCG5, GREM1 +2 more	Duplication	Familial colorectal cancer	GUncertain significance
Select item 38805	NC_000015.10:g.32672737_32712558dup	ARHGAP11A-SCG5, LOC125078054 +2 more	Duplication	Polyposis syndrome, hereditary mixed, 1	GPathogenic
Select item 1267827	NM_001144757.3(SCG5):c.227-209G>A	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317885	NM_001144757.3(SCG5):c.227-39G>T	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239157	NM_001144757.3(SCG5):c.227-33C>T	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 476579	NC_000015.9:g.(?_32971947)_(33004759_?)dup	ARHGAP11A-SCG5, GREM1 +2 more	Duplication	Familial colorectal cancer	GPathogenic
Select item 1318246	NM_001144757.3(SCG5):c.227-4G>A	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2645127	NM_001144757.3(SCG5):c.282C>T (p.Ile94=)	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1236383	NM_001144757.3(SCG5):c.376+138G>A	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 656826	NC_000015.9:g.(?_32976738)_(33023456_?)dup	ARHGAP11A-SCG5, GREM1 +3 more	Duplication	Familial colorectal cancer	GUncertain significance

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