ClinVar for Gene (Select 10230) - ClinVar

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Links from Gene

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243158	NC_000017.10:g.(?_41277268)_(41836109_?)dup	ARL4D, BRCA1 +7 more	Duplication	not provided	GUncertain significance
Select item 3243027	NC_000017.10:g.(?_41249295)_(41320078_?)dup	BRCA1, NBR2	Duplication	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 3242979	NC_000017.10:g.(?_41277346)_(41278211_?)del	BRCA1, NBR2	Deletion	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 3242218	Single allele	KIF18B, LPO +196 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3063522	GRCh37/hg19 17q21.31(chr17:41202962-41307101)x1	BRCA1, NBR2	Copy number loss	not specified	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 2692396	NC_000017.10:g.41272204_41309137del	NBR2, BRCA1	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2692394	NC_000017.10:g.41258618_41306113del	BRCA1, NBR2	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2692392	NC_000017.10:g.41217612_41400090del	BRCA1, NBR1 +2 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2425726	NC_000017.10:g.(?_41267778)_(41280110_?)del	BRCA1, NBR2	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 1809350	GRCh37/hg19 17q21.31(chr17:41105913-41307101)x3	AARSD1, BRCA1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1713241	NC_000017.10:g.41221355_41380248del	NBR1, NBR2 +2 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 1526577	GRCh37/hg19 17q21.31(chr17:41202796-41974964)	ARL4D, BRCA1 +12 more	Copy number gain	not specified	GUncertain significance
Select item 980720	GRCh37/hg19 17q21.31(chr17:41221565-41775043)x3	ARL4D, BRCA1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 831192	NC_000017.11:g.(?_43047633)_(43126360_?)del	BRCA1, NBR2	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 584346	NC_000017.10:g.(?_41276016)_(41635727_?)dup	ARL4D, BRCA1 +5 more	Duplication	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 560136	Single allele	NBR2, LOC126862571 +4 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 442490	GRCh37/hg19 17q21.31(chr17:41213892-41554856)x3	ARL4D, BRCA1 +3 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	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 209596	NM_007294.3(BRCA1):c.-2617_-2616del	BRCA1, NBR2	Deletion (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 209595	NM_007294.3(BRCA1):c.-2614T>C	BRCA1, NBR2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 209594	NM_007294.3(BRCA1):c.-2569G>T	BRCA1, NBR2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 209593	NM_007294.3(BRCA1):c.-2502T>C	BRCA1, NBR2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 209592	NM_007294.3(BRCA1):c.-2293C>G	BRCA1, LOC111589215 +1 more	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 209591	NM_007294.3(BRCA1):c.-2266G>A	NBR2, BRCA1 +1 more	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 209590	NM_007294.3(BRCA1):c.-2261T>C	BRCA1, LOC111589215 +1 more	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 209589	NM_007294.3(BRCA1):c.-2030T>C	NBR2, BRCA1 +1 more	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 209588	NM_007294.3(BRCA1):c.-1959C>T	BRCA1, LOC111589215 +1 more	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 209587	NM_007294.3(BRCA1):c.-1648T>C	NBR2, BRCA1 +1 more	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 209586	NM_007294.3(BRCA1):c.-1619G>A	BRCA1, LOC111589215 +1 more	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 209585	NM_007294.3(BRCA1):c.-1465G>A	NBR2, BRCA1 +1 more	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 209584	NM_007294.3(BRCA1):c.-1457G>C	BRCA1, LOC111589215 +1 more	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 209583	NC_000017.11:g.43126360G>A	NBR2, BRCA1 +1 more	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 209582	NC_000017.11:g.43126099T>C	BRCA1, LOC111589215 +1 more	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 209581	NM_007294.3(BRCA1):c.-728A>G	BRCA1, LOC111589215 +1 more	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 155568	GRCh38/hg38 17q21.31(chr17:43050945-43897883)x3	ARL4D, BRCA1 +52 more	Copy number gain	See cases	GUncertain significance
Select item 154110	GRCh38/hg38 17q21.31(chr17:43062458-43141043)x1	BRCA1, LOC110485084 +4 more	Copy number loss	See cases	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 150167	GRCh38/hg38 17q21.31(chr17:43088882-43865172)x3	ARL4D, BRCA1 +50 more	Copy number gain	See cases	GUncertain significance
Select item 148621	GRCh38/hg38 17q21.31(chr17:43080123-43897875)x3	ARL4D, BRCA1 +52 more	Copy number gain	See cases	GUncertain significance
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 46