LOC111589215[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC130060795, LOC130060796 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	AARSD1, ACBD4 +633 more	Copy number gain	See cases	GPathogenic
Select item 373888	NG_005905.2:g.(?_92501)_(135581_1441370)del(;)(147057_150288)_(160933_166866)del	LOC126862571, LOC130060934 +6 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 373863	NG_005905.2:g.(?_92501)_(135581_1441370)del	LOC126862571, LOC130060934 +6 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 661189	NC_000017.10:g.(?_41197675)_(41277500_?)dup	LOC111589215, BRCA1 +3 more	Duplication	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 583655	NC_000017.11:g.(?_43045658)_(43125483_?)del	BRCA1, LOC110485084 +3 more	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 373875	NG_005905.2:g.(?_92501)_(172307_?)del	BRCA1, LOC110485084 +3 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 373867	NG_005905.2:g.(92714_93868)_(172307_?)del	BRCA1, LOC110485084 +3 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 373871	NG_005905.2:g.(?_92501)_(170342_172181)del	BRCA1, LOC110485084 +3 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 560136	Single allele	NBR2, BRCA1 +4 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 651258	NC_000017.11:g.(?_43047623)_(43125483_?)del	BRCA1, LOC110485084 +3 more	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 373878	NG_005905.2:g.(?_92501)_(168862_170280)dup	LOC110485084, LOC111589215 +3 more	Duplication	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 373877	NG_005905.2:g.(?_92501)_(168862_170280)del	BRCA1, LOC110485084 +3 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 583577	NC_000017.10:g.(?_41201118)_(41277500_?)dup	BRCA1, LOC110485084 +3 more	Duplication	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 373859	NG_005905.2:g.(?_92501)_(166922_168789)del	LOC111589216, LOC126862571 +3 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 155568	GRCh38/hg38 17q21.31(chr17:43050945-43897883)x3	LOC110485085, LOC111589215 +52 more	Copy number gain	See cases	GUncertain significance
Select item 373873	NG_005905.2:g.(?_92501)_(160933_166866)del	BRCA1, LOC110485084 +3 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 373870	NG_005905.2:g.(?_92501)_(154652_160848)del	LOC111589216, LOC126862571 +3 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 154110	GRCh38/hg38 17q21.31(chr17:43062458-43141043)x1	BRCA1, LOC110485084 +4 more	Copy number loss	See cases	GPathogenic
Select item 583843	NC_000017.11:g.(?_43063313)_(43125483_?)del	BRCA1, LOC110485084 +3 more	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 583707	NC_000017.11:g.(?_43063854)_(43125483_?)del	BRCA1, LOC110485084 +3 more	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 373882	NG_005905.2:g.(?_92501)_(150377_154032)del	LOC126862571, BRCA1 +3 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 650186	NC_000017.11:g.(?_43067588)_(43125483_?)del	BRCA1, LOC110485084 +3 more	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 666230	NC_000017.11:g.(?_43070908)_(43125483_?)del	BRCA1, LOC110485084 +3 more	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 373874	NG_005905.2:g.(?_92501)_(141497_143462)del	LOC110485084, LOC111589215 +3 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 148621	GRCh38/hg38 17q21.31(chr17:43080123-43897875)x3	ARL4D, BRCA1 +52 more	Copy number gain	See cases	GUncertain significance
Select item 373887	NG_005905.2:g.(?_92501)_(127041_135408)del	LOC126862571, LOC111589215 +3 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 150167	GRCh38/hg38 17q21.31(chr17:43088882-43865172)x3	ARL4D, BRCA1 +50 more	Copy number gain	See cases	GUncertain significance
Select item 639367	NC_000017.10:g.(?_41242941)_(41277500_?)dup	BRCA1, LOC110485084 +3 more	Duplication	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 583429	NC_000017.11:g.(?_43090924)_(43125483_?)del	LOC126862571, BRCA1 +3 more	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 373885	NG_005905.2:g.(?_92501)_(126550_126951)del	LOC111589215, LOC111589216 +3 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 639365	NC_000017.10:g.(?_41247843)_(41277500_?)dup	BRCA1, LOC110485084 +2 more	Duplication	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 583987	NC_000017.10:g.(?_41249241)_(41277500_?)dup	BRCA1, LOC110485084 +2 more	Duplication	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 657388	NC_000017.10:g.(?_41251772)_(41277500_?)dup	BRCA1, LOC110485084 +2 more	Duplication	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 373861	NG_005905.2:g.(?_92501)_(113863_118103)del	BRCA1, LOC110485084 +2 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 662865	NC_000017.11:g.(?_43104102)_(43125483_?)del	BRCA1, LOC110485084 +2 more	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 652955	NC_000017.10:g.(?_41256119)_(41277500_?)dup	BRCA1, LOC110485084 +2 more	Duplication	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 373864	NG_005905.2:g.(?_92501)_(102259_111450)del	BRCA1, LOC110485084 +2 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 1685583	NC_000017.11:g.43110502_43125418del	BRCA1, LOC110485084 +2 more	Deletion	Familial cancer of breast	GPathogenic
Select item 652958	NC_000017.10:g.(?_41267723)_(41277500_?)dup	BRCA1, LOC110485084 +2 more	Duplication	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 584117	NC_000017.11:g.(?_43115706)_(43125483_?)del	BRCA1, LOC110485084 +2 more	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 2920670	NC_000017.11:g.(43115737_43124057)_(43126177_43130057)[3]	BRCA1, LOC110485084 +3 more	Variation	Breast-ovarian cancer, familial, susceptibility to, 1	GUncertain significance
Select item 373886	NG_005905.2:g.(?_92501)_(93968_102204)dup	BRCA1, LOC110485084 +2 more	Duplication	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 373880	NG_005905.2:g.(?_92501)_(93968_102204)del	LOC111589216, BRCA1 +2 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 267619	NM_007294.3(BRCA1):c.-7620_80+468delins8	NBR2, BRCA1 +1 more	Indel	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 584147	NC_000017.11:g.(?_43123997)_(43125483_?)del	BRCA1, LOC111589215	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 583578	NC_000017.10:g.(?_41276014)_(41277500_?)dup	BRCA1, LOC111589215	Duplication	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 373865	NG_005905.2:g.(?_92501)_(92714_93868)del	BRCA1, LOC111589215	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 150635	GRCh38/hg38 17q21.31(chr17:43124234-43520458)x3	ARL4D, BRCA1 +24 more	Copy number gain	See cases	GUncertain significance
Select item 1692958	NM_007294.4(BRCA1):c.-19-463C>T	BRCA1, LOC111589215	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 223579	NM_007294.4(BRCA1):c.-19-537G>A	BRCA1, LOC111589215	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 209576	NM_007294.4(BRCA1):c.-20+530G>A	BRCA1, LOC111589215	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 254638	NM_007294.4(BRCA1):c.-20+521_-20+525del	BRCA1, LOC111589215	Deletion (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 264850	NM_007294.4(BRCA1):c.-20+494CAAAA[5]	BRCA1, LOC111589215	Microsatellite (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 1692959	NM_007294.4(BRCA1):c.-20+475C>T	BRCA1, LOC111589215	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1596377	NM_007294.4(BRCA1):c.-20+386A>G	BRCA1, LOC111589215	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 209577	NM_007294.4(BRCA1):c.-20+336C>T	BRCA1, LOC111589215	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 209578	NM_007294.4(BRCA1):c.-20+185T>G	BRCA1, LOC111589215	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 803421	NM_007294.4(BRCA1):c.-20+152A>G	BRCA1, LOC111589215	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 1130395	NM_007294.4(BRCA1):c.-20+125A>C	LOC111589215, BRCA1	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 371811	NM_007294.4(BRCA1):c.-20+102dup	BRCA1, LOC111589215	Duplication (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GUncertain significance
Select item 371814	NM_007294.4(BRCA1):c.-20+103G>C	BRCA1, LOC111589215	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GUncertain significance
Select item 371812	NM_007294.4(BRCA1):c.-20+103G>A	BRCA1, LOC111589215	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GUncertain significance
Select item 371826	NM_007294.4(BRCA1):c.-20+101_-20+102delinsGC	BRCA1, LOC111589215	Indel (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GUncertain significance
Select item 189123	NM_007294.4(BRCA1):c.-20+101C>G	BRCA1, LOC111589215	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 371815	NM_007294.4(BRCA1):c.-20+59G>T	BRCA1, LOC111589215	Single nucleotide variant (non-coding transcript variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GUncertain significance
Select item 548880	NM_007294.4(BRCA1):c.-20+57G>A	BRCA1, LOC111589215	Single nucleotide variant (non-coding transcript variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 371899	NM_007294.4(BRCA1):c.-20+55G>A	BRCA1, LOC111589215	Single nucleotide variant (non-coding transcript variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 803422	NM_007294.4(BRCA1):c.-20+28G>A	BRCA1, LOC111589215	Single nucleotide variant (non-coding transcript variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 1083391	NM_007294.4(BRCA1):c.-20+20G>C	BRCA1, LOC111589215	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 2087470	NM_007294.4(BRCA1):c.-20+19A>C	BRCA1, LOC111589215	Single nucleotide variant (intron variant +1 more)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1666620	NM_007294.4(BRCA1):c.-20+17A>G	BRCA1, LOC111589215	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1156639	NM_007294.4(BRCA1):c.-20+16G>A	BRCA1, LOC111589215	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1081125	NM_007294.4(BRCA1):c.-20+16G>C	BRCA1, LOC111589215	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1106468	NM_007294.4(BRCA1):c.-20+15G>C	BRCA1, LOC111589215	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1158610	NM_007294.4(BRCA1):c.-20+14G>T	BRCA1, LOC111589215	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1146356	NM_007294.4(BRCA1):c.-20+14G>A	BRCA1, LOC111589215	Single nucleotide variant (intron variant +1 more)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 758289	NM_007294.4(BRCA1):c.-20+13C>G	BRCA1, LOC111589215	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 382001	NM_007294.4(BRCA1):c.-20+13C>T	BRCA1, LOC111589215	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary breast ovarian cancer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1108085	NM_007294.4(BRCA1):c.-20+12C>T	BRCA1, LOC111589215	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 125464	NM_007294.4(BRCA1):c.-20+11C>T	BRCA1, LOC111589215	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 2865336	NM_007294.4(BRCA1):c.-20+10T>C	BRCA1, LOC111589215	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2115501	NM_007294.4(BRCA1):c.-20+6A>G	BRCA1, LOC111589215	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 392782	NM_007294.4(BRCA1):c.-20+5T>C	BRCA1, LOC111589215	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary breast ovarian cancer syndrome +2 more	GLikely benign
Select item 970693	NM_007294.4(BRCA1):c.-20+4G>C	BRCA1, LOC111589215	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1941432	NM_007294.4(BRCA1):c.-20+2dup	BRCA1, LOC111589215	Duplication (splice donor variant +2 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 861449	NM_007294.4(BRCA1):c.-20+3A>T	BRCA1, LOC111589215	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 422596	NM_007294.4(BRCA1):c.-20+3A>G	BRCA1, LOC111589215	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary breast ovarian cancer syndrome +1 more	GUncertain significance
Select item 577927	NM_007294.4(BRCA1):c.-20+2T>C	BRCA1, LOC111589215	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 801062	NM_007294.4(BRCA1):c.-20+1G>C	BRCA1, LOC111589215	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 647957	NC_000017.10:g.(?_41277288)_(41277500_?)dup	BRCA1, LOC111589215	Duplication	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 265509	NM_007294.4(BRCA1):c.-20G>A	BRCA1, LOC111589215	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 323422	NM_007294.4(BRCA1):c.-22A>G	BRCA1, LOC111589215	Single nucleotide variant (5 prime UTR variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GUncertain significance
Select item 380721	NM_007294.4(BRCA1):c.-25G>A	BRCA1, LOC111589215	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 387278	NM_007294.4(BRCA1):c.-26G>T	BRCA1, LOC111589215	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 389168	NM_007294.4(BRCA1):c.-29C>G	BRCA1, LOC111589215	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 393043	NM_007294.4(BRCA1):c.-37C>T	BRCA1, LOC111589215	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 512052	NM_007294.4(BRCA1):c.-38C>T	BRCA1, LOC111589215	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1275837	NM_007294.4(BRCA1):c.-40C>T	BRCA1, LOC111589215	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign

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