10816[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 154262	GRCh38/hg38 15q13.3(chr15:32632993-32806319)x3	ARHGAP11A, ARHGAP11A-SCG5 +7 more	Copy number gain	See cases	GUncertain significance
Select item 153142	GRCh38/hg38 15q13.3(chr15:32633290-32781366)x3	FMN1, ARHGAP11A +7 more	Copy number gain	See cases	GUncertain significance
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 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
Select item 2645128	NM_001144757.3(SCG5):c.411T>C (p.Thr137=)	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1316231	NM_001144757.3(SCG5):c.459G>A (p.Pro153=)	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2463332	NM_001144757.3(SCG5):c.482G>T (p.Gly161Val)	ARHGAP11A-SCG5, SCG5 (G160V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1235123	NM_001144757.3(SCG5):c.489+231A>G	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318132	NM_001144757.3(SCG5):c.490-186G>A	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2645129	NM_001144757.3(SCG5):c.507C>T (p.Tyr169=)	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 374976	NM_001144757.3(SCG5):c.532C>T (p.Arg178Ter)	ARHGAP11A-SCG5, SCG5 (R178* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1701250	NM_001144757.3(SCG5):c.543+8G>A	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1227945	NM_001144757.3(SCG5):c.543+232A>G	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316230	NM_001144757.3(SCG5):c.543+251C>T	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1221298	NM_001144757.3(SCG5):c.544-251A>G	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291158	NM_001144757.3(SCG5):c.544-250C>T	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317681	NM_001144757.3(SCG5):c.544-248C>T	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316421	NM_001144757.3(SCG5):c.544-247A>G	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317651	NM_001144757.3(SCG5):c.544-242C>T	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182118	NM_001144757.3(SCG5):c.544-235G>A	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278072	NM_001144757.3(SCG5):c.544-119G>A	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292584	NM_001144757.3(SCG5):c.544-118C>T	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 543045	NC_000015.9:g.(?_32988695)_(33004759_?)dup	ARHGAP11A-SCG5, GREM1 +2 more	Duplication	Familial colorectal cancer	GUncertain significance
Select item 3316458	NM_001144757.3(SCG5):c.631C>A (p.Pro211Thr)	ARHGAP11A-SCG5, SCG5 (P211T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1268075	NM_001144757.3(SCG5):c.*312T>A	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1180365	NM_001144757.3(SCG5):c.*437C>T	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1316422	NC_000015.10:g.32697177T>C	SCG5	Single nucleotide variant	not provided	GLikely benign
Select item 1318268	NC_000015.10:g.32697484A>G	SCG5	Single nucleotide variant	not provided	GLikely benign
Select item 1317211	NC_000015.10:g.32697509C>T	SCG5	Single nucleotide variant	not provided	GLikely benign
Select item 3243826	NC_000015.9:g.(?_32964889)_(33360085_?)dup	GREM1, SCG5	Duplication	Familial colorectal cancer	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 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 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 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 2425861	NC_000015.9:g.(?_31196867)_(34112028_?)dup	ARHGAP11A, CHRNA7 +11 more	Duplication	Familial colorectal cancer	GUncertain significance
Select item 2425860	NC_000015.9:g.(?_32976738)_(33023486_?)dup	GREM1, SCG5	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 2425858	NC_000015.9:g.(?_32971947)_(33023446_?)dup	GREM1, SCG5	Duplication	Familial colorectal cancer	GUncertain significance
Select item 2425857	NC_000015.9:g.(?_32983891)_(33023446_?)dup	GREM1, SCG5	Duplication	Familial colorectal cancer	GUncertain significance
Select item 2425856	NC_000015.9:g.(?_32976738)_(33023446_?)dup	GREM1, SCG5	Duplication	Familial colorectal cancer	GUncertain significance
Select item 2425854	NC_000015.9:g.(?_32964889)_(33878337_?)dup	GREM1, RYR3 +1 more	Duplication	Familial colorectal cancer	GUncertain significance
Select item 2425853	NC_000015.9:g.(?_32964889)_(32976890_?)dup	GREM1, SCG5	Duplication	Familial colorectal cancer	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 1712253	GRCh37/hg19 15q13.3-14(chr15:32915722-34671601)x3	KATNBL1, NUTM1 +13 more	Copy number gain	See cases	GPathogenic
Select item 1411764	NC_000015.9:g.(?_32964839)_(33004986_?)dup	GREM1, SCG5	Duplication	Familial colorectal cancer	GUncertain significance
Select item 1411763	NC_000015.9:g.(?_32983891)_(32988830_?)dup	GREM1, SCG5	Duplication	Familial colorectal cancer	GUncertain significance
Select item 1411760	NC_000015.9:g.(?_32964889)_(33009478_?)dup	GREM1, SCG5	Duplication	Familial colorectal cancer	GUncertain significance
Select item 1411758	NC_000015.9:g.(?_32964889)_(32994756_?)dup	GREM1, SCG5	Duplication	Familial colorectal cancer	GUncertain significance
Select item 1062673	NC_000015.9:g.(?_32964889)_(33004937_?)dup	GREM1, SCG5	Duplication	Familial colorectal cancer	GUncertain significance
Select item 1062672	NC_000015.9:g.(?_32964740)_(33002449_?)dup	GREM1, SCG5	Duplication	Familial colorectal cancer	GUncertain significance
Select item 1040887	NC_000015.9:g.(?_32964889)_(33012502_?)dup	GREM1, SCG5	Duplication	Familial colorectal cancer	GUncertain significance
Select item 1040886	NC_000015.9:g.(?_32964889)_(32988830_?)dup	GREM1, SCG5	Duplication	Familial colorectal cancer	GUncertain significance
Select item 1024935	NC_000015.9:g.(?_32964889)_(33010736_?)dup	GREM1, SCG5	Duplication	Familial colorectal cancer	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 1004166	NC_000015.9:g.(?_32964889)_(33010412_?)dup	GREM1, SCG5	Duplication	Familial colorectal cancer	GUncertain significance
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 979414	GRCh37/hg19 15q13.1-14(chr15:28709714-34506805)x3	MTMR10, APBA2 +25 more	Copy number gain	not provided	GLikely pathogenic
Select item 832812	NC_000015.10:g.(?_32672539)_(32679935_?)dup	GREM1, SCG5	Duplication	Familial colorectal cancer	GUncertain significance
Select item 832797	NC_000015.10:g.(?_32679746)_(32712736_?)dup	GREM1, SCG5	Duplication	Familial colorectal cancer	GPathogenic
Select item 832500	NC_000015.10:g.(?_32679746)_(32702555_?)dup	GREM1, SCG5	Duplication	Familial colorectal cancer	GPathogenic
Select item 831612	NC_000015.10:g.(?_32696494)_(32731245_?)dup	GREM1, SCG5	Duplication	Familial colorectal cancer	GUncertain significance
Select item 831190	NC_000015.10:g.(?_32696494)_(32718535_?)dup	GREM1, SCG5	Duplication	Familial colorectal cancer	GUncertain significance
Select item 830504	NC_000015.10:g.(?_32694020)_(32731255_?)dup	GREM1, SCG5	Duplication	Familial colorectal cancer	GUncertain significance
Select item 830437	NC_000015.10:g.(?_32672688)_(32731245_?)dup	GREM1, SCG5	Duplication	Familial colorectal cancer	GUncertain significance
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 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 564192	GRCh37/hg19 15q13.3-14(chr15:32920693-34868996)x3	EMC4, EMC7 +14 more	Copy number gain	not provided	GUncertain significance

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