675[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 18602

<< First< Prev

Page of 187

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2048 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	ABCC4, ABHD13 +2049 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC126861801, LOC126861802 +2047 more	Copy number gain	See cases	GPathogenic
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	PDS5B, PDX1 +566 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2044 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	LOC126861839, LOC126861840 +2045 more	Copy number gain	See cases	GPathogenic
Select item 153502	GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3	LOC130009480, LOC130009481 +488 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	ABCC4, ABHD13 +2040 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC124849292, LOC124849293 +2028 more	Copy number gain	See cases	GPathogenic
Select item 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC130009376, LOC130009377 +620 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	ABCC4, ABHD13 +2021 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC130009743, LOC130009744 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC130009548, LOC130009549 +2024 more	Copy number gain	See cases	GPathogenic
Select item 148858	GRCh38/hg38 13q12.3-13.3(chr13:29073320-36556014)x1	ALOX5AP, B3GLCT +202 more	Copy number loss	See cases	GPathogenic
Select item 154802	GRCh38/hg38 13q12.3-13.3(chr13:29321454-36995348)x3	ALG5, ALOX5AP +210 more	Copy number gain	See cases	GPathogenic
Select item 57637	GRCh38/hg38 13q12.3-13.1(chr13:29654134-32858245)x1	ALOX5AP, B3GLCT +117 more	Copy number loss	See cases	GPathogenic
Select item 150360	GRCh38/hg38 13q12.3-13.3(chr13:30313809-39267681)x1	LOC126861732, LOC126861733 +213 more	Copy number loss	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	RBM26-AS1, RCBTB1 +1004 more	Copy number gain	See cases	GPathogenic
Select item 57638	GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1	LOC130009757, LOC130009758 +780 more	Copy number loss	See cases	GPathogenic
Select item 149761	GRCh38/hg38 13q12.3-14.2(chr13:31018160-48491204)x1	AKAP11, ALG5 +485 more	Copy number loss	See cases	GPathogenic
Select item 57639	GRCh38/hg38 13q12.3-13.2(chr13:31164047-34428736)x1	B3GLCT, BRCA2 +79 more	Copy number loss	See cases	GPathogenic
Select item 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	LOC130009739, LOC130009740 +992 more	Copy number gain	See cases	GPathogenic
Select item 33174	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 146536	GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3	AKAP11, ALG11 +735 more	Copy number gain	See cases	GPathogenic
Select item 209597	NM_001136571.2(ZAR1L):c.-390+372T>C	BRCA2, LOC106721785 +1 more	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 2170020	NM_001136571.2(ZAR1L):c.-390+103C>T	BRCA2, LOC106721785 +1 more	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GBenign
Select item 209598	NM_001136571.2(ZAR1L):c.-390+89C>T	BRCA2, LOC106721785 +1 more	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 1168940	NM_001136571.2(ZAR1L):c.-390+15C>T	BRCA2, LOC106721785 +1 more	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GBenign
Select item 2174981	NM_001136571.2(ZAR1L):c.-430T>C	BRCA2, LOC106721785 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 873424	NC_000013.11:g.32315358_32316294del	BRCA2, LOC106721785 +2 more	Deletion	Hereditary breast ovarian cancer syndrome +1 more	GPathogenic
Select item 2139291	NC_000013.11:g.32315397C>T	BRCA2, LOC106721785	Single nucleotide variant	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 1166054	NM_000059.4(BRCA2):c.-296C>T	BRCA2, LOC106721785	Single nucleotide variant	Hereditary breast ovarian cancer syndrome +3 more	GBenign/Likely benign
Select item 993055	NC_000013.11:g.32315482_32316529dup	BRCA2, LOC106721785	Duplication	not provided	GUncertain significance
Select item 662866	NC_000013.11:g.(?_32315480)_(32315687_?)del	BRCA2, LOC106721785	Deletion	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 660689	NC_000013.11:g.(?_32315480)_(32371120_?)del	BRCA2, LOC106721785 +1 more	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 652952	NC_000013.11:g.(?_32315480)_(32319345_?)del	BRCA2, LOC106721785 +1 more	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 584385	NC_000013.11:g.(?_32315480)_(32398790_?)del	BRCA2, LOC106721785 +3 more	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 583428	NC_000013.11:g.(?_32315480)_(32316547_?)del	BRCA2, LOC106721785 +1 more	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 373872	NG_012772.3:g.(?_5001)_(88292_?)del	LOC106721785, LOC112163653 +3 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 882070	NM_000059.3(BRCA2):c.-220G>T	BRCA2, LOC106721785	Single nucleotide variant	Hereditary breast ovarian cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 311659	NM_000059.3(BRCA2):c.-210A>G	BRCA2, LOC106721785	Single nucleotide variant	Breast-ovarian cancer, familial, susceptibility to, 2 +1 more	GUncertain significance
Select item 802915	NM_000059.3(BRCA2):c.-200C>G	BRCA2, LOC106721785	Single nucleotide variant	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 802916	NM_000059.4(BRCA2):c.-197A>C	BRCA2, LOC106721785	Single nucleotide variant (5 prime UTR variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 434530	NM_000059.4(BRCA2):c.-196G>A	BRCA2, LOC106721785	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 434531	NM_000059.4(BRCA2):c.-188C>T	BRCA2, LOC106721785	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 584838	NM_000059.4(BRCA2):c.-179_-169dup	BRCA2, LOC106721785	Duplication	Breast-ovarian cancer, familial, susceptibility to, 2	GUncertain significance
Select item 209599	NM_000059.4(BRCA2):c.-175C>T	BRCA2, LOC106721785	Single nucleotide variant (5 prime UTR variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 802917	NM_000059.4(BRCA2):c.-174T>G	BRCA2, LOC106721785	Single nucleotide variant (5 prime UTR variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 264955	NM_000059.4(BRCA2):c.-162G>A	BRCA2, LOC106721785	Single nucleotide variant (5 prime UTR variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 2680248	NM_000059.4(BRCA2):c.-152T>C	BRCA2, LOC106721785	Single nucleotide variant (5 prime UTR variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 2761421	NM_000059.4(BRCA2):c.-143_-142insCGTCTTTTAGCATACAGGTCTTGTGCAGCTTTTATCAGATTTCTTCCTCTAAGTCTTGATACTTTTTTTTTTTTTAATAATACTTTAAGTTCCGCAATACATGTGCAGAACCTGCAGGTTTGTTACATAGGTATACACGTGCCATGGTGGTTTGCTACACCCATCAACCTGTCATCTACATTAGATATTTCTCCTAATGCTATCCCTTCCCTAGCCCCCCATCCCCCAATAGCCCCCGGTGTGTGATGTTCCCTGCCCTGTGTCCACGTGTTCTCATTGTTCAACTCCCACTTATCAGTGAGAACACGCGGTGTTTGTTTTTCTGTTCTCGTGTTATTTTTCTGAGAATGATATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATTCTTTTTTATGGCCACATAGTATTCTGTGGTGTATATGGGCCACATTTTCTTTATCCAGTCTATCATTGATGGGCATTTGGGTAGGTTCCAAGTCTTTGCTAATTTTGAAATTATCATTTCACAGCTTAATTTCTGATGGTTCCTTGCTAGTATTTAGAAATACAATTGATTTTTTTATGTTGATCTTAAAAAATTGCAAGCTTACCTATCTTGTTTATTAGATCTAGTAACTTATTTGTAGATTCCATTGGGTTTTCTACAAATAGACTCATGTTGCCTAAGAATAAAGGCTTACTTTTTTCCCACTATGAATCCTTTTTATTTGTATTTTTTTCCTTGCCTTATTGCACTGGCTAGAATCTAAAGTATAATGTTGAACAGACATGGTGAGAGCAGATATTCTTACAACTGACCCACACTTAGGTTTGTGGAGAAAGCACTCAGTCTTTCACCATTAAGTATGTTAACTGTACTTAGTTAACTGTAGGGC	BRCA2, LOC106721785	Insertion (non-coding transcript variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 1337514	NM_000059.4(BRCA2):c.-143C>T	LOC106721785, BRCA2	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2144940	NM_000059.4(BRCA2):c.-125G>C	BRCA2, LOC106721785	Single nucleotide variant (5 prime UTR variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 802918	NM_000059.4(BRCA2):c.-123G>T	BRCA2, LOC106721785	Single nucleotide variant (5 prime UTR variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 993212	NM_000059.4(BRCA2):c.-88G>T	BRCA2, LOC106721785	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 264878	NM_000059.4(BRCA2):c.-59_-57del	BRCA2, LOC106721785	Deletion (5 prime UTR variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 2822681	NM_000059.4(BRCA2):c.-60A>T	BRCA2, LOC106721785	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 387446	NM_000059.4(BRCA2):c.-60A>G	LOC106721785, BRCA2	Single nucleotide variant (5 prime UTR variant)	Hereditary breast ovarian cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2865755	NM_000059.4(BRCA2):c.-59G>C	BRCA2, LOC106721785	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 1128272	NM_000059.4(BRCA2):c.-56_-55insCTC	BRCA2, LOC106721785	Insertion (5 prime UTR variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 807001	NM_000059.4(BRCA2):c.-57A>G	BRCA2, LOC106721785	Single nucleotide variant (5 prime UTR variant)	Hereditary breast ovarian cancer syndrome +1 more	GUncertain significance
Select item 719336	NM_000059.4(BRCA2):c.-56del	BRCA2, LOC106721785	Deletion (5 prime UTR variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 506545	NM_000059.4(BRCA2):c.-56C>A	BRCA2, LOC106721785	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1154030	NM_000059.4(BRCA2):c.-55T>C	BRCA2, LOC106721785	Single nucleotide variant (5 prime UTR variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 514121	NM_000059.4(BRCA2):c.-55_-52delinsCTCCGCG	BRCA2, LOC106721785	Indel (5 prime UTR variant)	not specified	GLikely benign
Select item 1400968	NM_000059.4(BRCA2):c.-54G>A	BRCA2, LOC106721785	Single nucleotide variant (5 prime UTR variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 1038113	NM_000059.4(BRCA2):c.-53C>T	BRCA2, LOC106721785	Single nucleotide variant (5 prime UTR variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 1981989	NM_000059.4(BRCA2):c.-52A>C	BRCA2, LOC106721785	Single nucleotide variant (5 prime UTR variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 209600	NM_000059.4(BRCA2):c.-52A>G	BRCA2, LOC106721785	Single nucleotide variant (5 prime UTR variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 433741	NM_000059.4(BRCA2):c.-50_-48del	BRCA2, LOC106721785	Deletion (5 prime UTR variant)	not specified	GLikely benign
Select item 384062	NM_000059.4(BRCA2):c.-51C>T	BRCA2, LOC106721785	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1144050	NM_000059.4(BRCA2):c.-50C>A	BRCA2, LOC106721785	Single nucleotide variant (5 prime UTR variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 2700378	NM_000059.4(BRCA2):c.-48C>T	BRCA2, LOC106721785	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2113396	NM_000059.4(BRCA2):c.-48C>G	BRCA2, LOC106721785	Single nucleotide variant (5 prime UTR variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2733506	NM_000059.4(BRCA2):c.-45G>T	LOC106721785, BRCA2	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 1140880	NM_000059.4(BRCA2):c.-45G>C	BRCA2, LOC106721785	Single nucleotide variant (5 prime UTR variant)	Hereditary breast ovarian cancer syndrome +1 more	GLikely benign
Select item 2127106	NM_000059.4(BRCA2):c.-43G>T	BRCA2, LOC106721785	Single nucleotide variant (5 prime UTR variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 1505260	NM_000059.4(BRCA2):c.-43G>A	BRCA2, LOC106721785	Single nucleotide variant (5 prime UTR variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 420553	NM_000059.4(BRCA2):c.-42_-41del	BRCA2, LOC106721785	Deletion (5 prime UTR variant)	Hereditary breast ovarian cancer syndrome +1 more	GLikely benign
Select item 1113812	NM_000059.4(BRCA2):c.-42C>G	LOC106721785, BRCA2	Single nucleotide variant (5 prime UTR variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 701875	NM_000059.4(BRCA2):c.-42C>A	BRCA2, LOC106721785	Single nucleotide variant (5 prime UTR variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 565656	NM_000059.4(BRCA2):c.-42C>T	BRCA2, LOC106721785	Single nucleotide variant (5 prime UTR variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 1418390	NM_000059.4(BRCA2):c.-41_-40+5del	BRCA2, LOC106721785	Deletion (splice donor variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 252427	NM_000059.4(BRCA2):c.-41G>A	BRCA2, LOC106721785	Single nucleotide variant (5 prime UTR variant)	BRCA2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 965884	NM_000059.4(BRCA2):c.-40G>A	BRCA2, LOC106721785	Single nucleotide variant (5 prime UTR variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 566022	NM_000059.4(BRCA2):c.-40G>T	BRCA2, LOC106721785	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 491197	NM_000059.4(BRCA2):c.-40G>C	BRCA2, LOC106721785	Single nucleotide variant (5 prime UTR variant)	Hereditary breast ovarian cancer syndrome +1 more	GUncertain significance
Select item 2116024	NM_000059.4(BRCA2):c.-40+1G>T	BRCA2, LOC106721785	Single nucleotide variant (splice donor variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 972475	NM_000059.4(BRCA2):c.-40+1G>C	BRCA2, LOC106721785	Single nucleotide variant (splice donor variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 940200	NM_000059.4(BRCA2):c.-40+1G>A	BRCA2, LOC106721785	Single nucleotide variant (splice donor variant)	Hereditary breast ovarian cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2738444	NM_000059.4(BRCA2):c.-40+2T>A	BRCA2, LOC106721785	Single nucleotide variant (splice donor variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 643446	NM_000059.4(BRCA2):c.-40+2T>C	BRCA2, LOC106721785	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group D1 +2 more	GConflicting classifications of pathogenicity
Select item 2829868	NM_000059.4(BRCA2):c.-40+4_-40+6del	BRCA2, LOC106721785	Deletion (intron variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 1078246	NM_000059.4(BRCA2):c.-40+3T>C	BRCA2, LOC106721785	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1470076	NM_000059.4(BRCA2):c.-40+4A>G	BRCA2, LOC106721785	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 1128934	NM_000059.4(BRCA2):c.-40+5GTG[4]	BRCA2, LOC106721785	Microsatellite (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 2715935	NM_000059.4(BRCA2):c.-40+5G>C	BRCA2, LOC106721785	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2102748	NM_000059.4(BRCA2):c.-40+10_-40+15del	BRCA2, LOC106721785	Microsatellite (intron variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 419639	NM_000059.4(BRCA2):c.-40+5G>T	LOC106721785, BRCA2	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance

<< First< Prev

Page of 187