324[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 16056

<< First< Prev

Page of 161

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	ADGRV1, ALDH7A1 +683 more	Copy number loss	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	ADAMTS19, ADAMTS19-AS1 +690 more	Copy number loss	See cases	GPathogenic
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	LOC129994264, LOC129994265 +496 more	Copy number loss	See cases	GPathogenic
Select item 155182	GRCh38/hg38 5q15-22.2(chr5:93193104-113287795)x1	LOC129994340, LOC129994341 +343 more	Copy number loss	See cases	GPathogenic
Select item 58098	GRCh38/hg38 5q15-22.3(chr5:96454445-114050905)x3	TSSK1B, WDR36 +275 more	Copy number gain	See cases	GPathogenic
Select item 59671	GRCh38/hg38 5q21.1-22.2(chr5:102373396-113594030)x1	EPB41L4A-DT, APC +180 more	Copy number loss	See cases	GPathogenic
Select item 153994	GRCh38/hg38 5q21.3-22.2(chr5:106586078-113006585)x1	EPB41L4A-DT, APC +134 more	Copy number loss	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	LOC129994435, LOC129994436 +1673 more	Copy number loss	See cases	GPathogenic
Select item 146399	GRCh38/hg38 5q21.3-23.1(chr5:107002209-118025316)x1	LOC129994412, LOC129994413 +230 more	Copy number loss	See cases	GPathogenic
Select item 155259	GRCh38/hg38 5q21.3-23.2(chr5:108308463-125777797)x1	AP3S1, APC +340 more	Copy number loss	See cases	GPathogenic
Select item 144331	GRCh38/hg38 5q21.3-23.1(chr5:108585264-116815075)x1	AP3S1, APC +186 more	Copy number loss	See cases	GPathogenic
Select item 150374	GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1	ADAMTS19, ADAMTS19-AS1 +378 more	Copy number loss	See cases	GPathogenic
Select item 146237	GRCh38/hg38 5q22.1-23.2(chr5:111463016-127193038)x1	ALDH7A1, AP3S1 +317 more	Copy number loss	See cases	GPathogenic
Select item 152168	GRCh38/hg38 5q22.2-23.1(chr5:112323517-117773507)x1	AP3S1, APC +119 more	Copy number loss	See cases	GPathogenic
Select item 580918	NC_000005.9:g.112001178_112043328del	LOC129994371, LOC102467216 +3 more	Deletion	Familial adenomatous polyposis 1	GLikely pathogenic
Select item 1711607	NC_000005.10:g.112696987C>T	APC	Single nucleotide variant	not provided	GLikely benign
Select item 495348	NM_000038.5(APC):c.(?_-37541)_(-27791_?)del	APC, LOC121079956 +1 more	Deletion	Familial multiple polyposis syndrome	GPathogenic
Select item 1195720	NC_000005.10:g.112707176C>T	APC	Single nucleotide variant	not provided	GLikely benign
Select item 506406	NM_000038.5(APC):c.-30712G>A	APC	Single nucleotide variant	not specified	GBenign
Select item 1187671	NC_000005.10:g.112707254C>G	APC	Single nucleotide variant	not provided	GLikely benign
Select item 506394	NM_001354897.2(APC):c.-416A>G	APC	Single nucleotide variant	not specified	GBenign
Select item 1494875	NC_000005.10:g.112707309_112707312delinsCCCA	APC	Indel	Familial adenomatous polyposis 1	GUncertain significance
Select item 1059614	NC_000005.10:g.112707313_112707316dup	APC	Duplication	Familial adenomatous polyposis 1	GUncertain significance
Select item 663961	NC_000005.9:g.(?_112043009)_(112111444_?)dup	APC, LOC129994371	Duplication	Familial adenomatous polyposis 1	GUncertain significance
Select item 662855	NC_000005.10:g.(?_112707312)_(112844126_?)del	APC, LOC129994371	Deletion	Familial adenomatous polyposis 1	GPathogenic
Select item 656814	NC_000005.10:g.(?_112707312)_(112844136_?)del	APC, LOC129994371	Deletion	Familial adenomatous polyposis 1	GPathogenic
Select item 652947	NC_000005.9:g.(?_112043009)_(112073585_?)dup	APC, LOC129994371	Duplication	Familial adenomatous polyposis 1	GUncertain significance
Select item 647956	NC_000005.10:g.(?_112707312)_(112780913_?)del	APC, LOC129994371	Deletion	Familial adenomatous polyposis 1	GPathogenic
Select item 469903	NC_000005.10:g.112707312C>T	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GBenign
Select item 469683	NC_000005.10:g.(?_112707312)_(112780909_?)del	APC, LOC129994371	Deletion	Familial adenomatous polyposis 1	GPathogenic
Select item 469682	NC_000005.9:g.(?_112043009)_(112043599_?)dup	APC, LOC129994371	Duplication	Familial adenomatous polyposis 1	GUncertain significance
Select item 429040	NC_000005.10:g.(?_112707312)_(112707902_?)del	APC, LOC129994371	Deletion	Familial adenomatous polyposis 1	GPathogenic
Select item 648672	NC_000005.10:g.112707314G>A	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 1001434	NC_000005.10:g.112707315C>T	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 1491765	NC_000005.10:g.112707316A>G	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 1410279	NC_000005.10:g.112707316A>T	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 1369440	NC_000005.10:g.112707317G>C	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 3676580	NC_000005.10:g.112707318C>T	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 469902	NC_000005.10:g.112707318C>G	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 1460838	NC_000005.10:g.112707320C>A	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 2114692	NC_000005.10:g.112707321A>C	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 3002108	NC_000005.10:g.112707322A>G	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 1054521	NC_000005.10:g.112707323T>C	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 1047277	NC_000005.10:g.112707325C>G	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 1378003	NC_000005.10:g.112707326A>T	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 1063913	NC_000005.10:g.112707331_112707355dup	APC	Duplication	Familial adenomatous polyposis 1	GUncertain significance
Select item 1021148	NC_000005.10:g.112707327G>C	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 2756478	NC_000005.10:g.112707328A>T	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 1345198	NC_000005.10:g.112707330_112707332del	APC	Deletion	Familial adenomatous polyposis 1	GUncertain significance
Select item 1025403	NC_000005.10:g.112707329G>A	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 1052288	NC_000005.10:g.112707333del	APC	Deletion	Familial adenomatous polyposis 1	GUncertain significance
Select item 649909	NC_000005.10:g.112707332G>C	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 645482	NC_000005.10:g.112707332G>A	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 639358	NC_000005.10:g.112707333G>A	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 537589	NC_000005.10:g.112707333G>T	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 2902757	NC_000005.10:g.112707335del	APC	Deletion	Familial adenomatous polyposis 1	GUncertain significance
Select item 469901	NC_000005.10:g.112707334C>T	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 651882	NC_000005.10:g.112707336dup	APC	Duplication	Familial adenomatous polyposis 1	GUncertain significance
Select item 469900	NC_000005.10:g.112707336A>T	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 469899	NC_000005.10:g.112707336A>G	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 1351621	NC_000005.10:g.112707337G>A	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 646438	NC_000005.10:g.112707338dup	APC	Duplication	Familial adenomatous polyposis 1	GUncertain significance
Select item 1042141	NC_000005.10:g.112707338T>C	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 999173	NC_000005.10:g.112707339A>G	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 469898	NC_000005.10:g.112707339A>T	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 1011121	NC_000005.10:g.112707340A>G	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 2878787	NC_000005.10:g.112707341G>A	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 537574	NC_000005.10:g.112707341G>C	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 1017270	NC_000005.10:g.112707342T>G	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 647832	NC_000005.10:g.112707342T>C	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 2799620	NC_000005.10:g.112707343G>A	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 664068	NC_000005.10:g.112707343G>C	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 3650510	NC_000005.10:g.112707344_112707345delinsGG	APC	Indel	Familial adenomatous polyposis 1	GUncertain significance
Select item 1062895	NC_000005.10:g.112707344C>G	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 3725909	NC_000005.10:g.112707345T>A	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 1021742	NC_000005.10:g.112707345T>C	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 1014343	NC_000005.10:g.112707345del	APC	Deletion	Familial adenomatous polyposis 1	GUncertain significance
Select item 1345341	NC_000005.10:g.112707346G>T	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 1040861	NC_000005.10:g.112707346G>C	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 639350	NC_000005.10:g.112707346G>A	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 2146342	NC_000005.10:g.112707347C>A	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 1475030	NC_000005.10:g.112707348A>C	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 659458	NC_000005.10:g.112707348A>G	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 1043899	NC_000005.10:g.112707349A>G	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 2827427	NC_000005.10:g.112707350C>G	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 1020616	NC_000005.10:g.112707350C>A	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 1003352	NC_000005.10:g.112707350C>T	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 2798886	NC_000005.10:g.112707351T>G	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 469897	NC_000005.10:g.112707351T>C	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 3619865	NC_000005.10:g.112707352G>A	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 1518218	NC_000005.10:g.112707352G>T	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 652540	NC_000005.10:g.112707353dup	APC	Duplication	Familial adenomatous polyposis 1	GUncertain significance
Select item 2702354	NC_000005.10:g.112707353A>G	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 1034935	NC_000005.10:g.112707354G>C	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 469896	NC_000005.10:g.112707354G>A	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GLikely benign
Select item 1519062	NC_000005.10:g.112707355A>T	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 1025852	NC_000005.10:g.112707355A>G	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 1498337	NC_000005.10:g.112707356C>T	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 641966	NC_000005.10:g.112707357T>A	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance
Select item 537687	NC_000005.10:g.112707358C>T	APC	Single nucleotide variant	Familial adenomatous polyposis 1	GUncertain significance

<< First< Prev

Page of 161