672[geneid] - 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	AARSD1, AATF +2032 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
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 373888	NG_005905.2:g.(?_92501)_(135581_1441370)del(;)(147057_150288)_(160933_166866)del	RND2, LOC126862571 +6 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 373863	NG_005905.2:g.(?_92501)_(135581_1441370)del	RND2, LOC126862571 +6 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 373845	Single allele	BRCA1	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 209219	NM_007294.3(BRCA1):c.*6207C>T	BRCA1	Single nucleotide variant	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 209220	NM_007294.3(BRCA1):c.*5860C>T	BRCA1	Single nucleotide variant	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 209221	NM_007294.3(BRCA1):c.5678_5679insAT	BRCA1	Microsatellite	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 209222	NM_007294.3(BRCA1):c.*5513G>A	BRCA1	Single nucleotide variant	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 209223	NM_007294.3(BRCA1):c.*4549G>C	BRCA1	Single nucleotide variant	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 209224	NM_007294.3(BRCA1):c.*4271T>A	BRCA1	Single nucleotide variant	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 209225	NM_007294.3(BRCA1):c.*4056C>A	BRCA1	Single nucleotide variant	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 1713204	NC_000017.11:g.43041660_43046086delinsCTGTG	BRCA1	Indel	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 373858	NC_000017.11:g.43041662_43046087delinsTG	BRCA1	Indel	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 209226	NM_007294.3(BRCA1):c.*3785T>A	BRCA1	Single nucleotide variant	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 209227	NM_007294.3(BRCA1):c.*2810A>G	BRCA1	Single nucleotide variant	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 209228	NM_007294.3(BRCA1):c.*2670A>T	BRCA1	Single nucleotide variant	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 209229	NM_007294.3(BRCA1):c.*2602C>T	BRCA1	Single nucleotide variant	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 209230	NM_007294.3(BRCA1):c.*1984C>G	BRCA1	Single nucleotide variant	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 209231	NM_007294.3(BRCA1):c.*1922T>C	BRCA1	Single nucleotide variant	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 664769	NM_007294.3(BRCA1):c.5468_*1383del	BRCA1	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 417801	NC_000017.11:g.(?_43044295)_(43124115_?)del	BRCA1, LOC110485084 +2 more	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 417601	NC_000017.11:g.(?_43044295)_(43099880_?)del	LOC126862571, BRCA1	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 417600	NC_000017.11:g.(?_43044295)_(43045802_?)del	BRCA1	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 417594	NC_000017.11:g.(?_43044295)_(43057135_?)del	BRCA1	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 438907	NM_007294.4(BRCA1):c.*1363A>T	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1336623	NM_007294.4(BRCA1):c.*1358A>G	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1194910	NM_007294.4(BRCA1):c.*1337TGT[1]	BRCA1	Microsatellite (3 prime UTR variant +1 more)	Hereditary breast ovarian cancer syndrome +1 more	GUncertain significance
Select item 1336422	NM_007294.4(BRCA1):c.*1336A>G	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 209232	NM_007294.4(BRCA1):c.*1332G>A	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 264789	NM_007294.4(BRCA1):c.*1327G>A	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 323408	NM_007294.4(BRCA1):c.*1323A>G	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 323409	NM_007294.4(BRCA1):c.*1292T>C	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GUncertain significance
Select item 132777	NM_007294.4(BRCA1):c.*1287C>T	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 371821	NM_007294.4(BRCA1):c.*1286C>T	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1 +1 more	GLikely benign
Select item 323410	NM_007294.4(BRCA1):c.*1285C>A	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 888573	NM_007294.4(BRCA1):c.*1281C>T	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GUncertain significance
Select item 441519	NM_007294.4(BRCA1):c.*1271T>C	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1 +1 more	GUncertain significance
Select item 1336800	NM_007294.4(BRCA1):c.*1186A>G	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1692954	NM_007294.4(BRCA1):c.*1139G>A	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1118010	NM_007294.4(BRCA1):c.*1139G>T	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 209233	NM_007294.4(BRCA1):c.*1113G>A	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 1337395	NM_007294.4(BRCA1):c.*1086A>C	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1336919	NM_007294.4(BRCA1):c.*954A>C	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1336748	NM_007294.4(BRCA1):c.*928C>T	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 803400	NM_007294.4(BRCA1):c.855_873A[20]GAAAAAAAAAAAAAAAAAAAAAA[1]	BRCA1	Microsatellite (3 prime UTR variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 803399	NM_007294.4(BRCA1):c.865_873dup	BRCA1	Duplication (3 prime UTR variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 1337382	NM_007294.4(BRCA1):c.869_873del	BRCA1	Deletion (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1337062	NM_007294.4(BRCA1):c.867_873del	BRCA1	Deletion (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 323411	NM_007294.4(BRCA1):c.872_873del	BRCA1	Deletion (3 prime UTR variant +1 more)	Hereditary breast ovarian cancer syndrome +1 more	GUncertain significance
Select item 264856	NM_007294.4(BRCA1):c.*873del	BRCA1	Deletion (3 prime UTR variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 1336739	NM_007294.4(BRCA1):c.*859A>C	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 323412	NM_007294.4(BRCA1):c.854_855del	BRCA1	Deletion (3 prime UTR variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 323413	NM_007294.4(BRCA1):c.*854del	BRCA1	Deletion (3 prime UTR variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 548794	NM_007294.4(BRCA1):c.*800T>C	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GUncertain significance
Select item 3358041	NM_007294.4(BRCA1):c.*792G>A	BRCA1	Single nucleotide variant (3 prime UTR variant)	BRCA1-related disorder	GLikely benign
Select item 132778	NM_007294.4(BRCA1):c.*781C>T	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 1713201	NM_007294.4(BRCA1):c.5278-502_*756del	BRCA1	Deletion (splice acceptor variant +1 more)	not provided	GPathogenic
Select item 323414	NM_007294.4(BRCA1):c.*750A>G	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 323415	NM_007294.4(BRCA1):c.*743G>T	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1 +1 more	GUncertain significance
Select item 3054341	NM_007294.4(BRCA1):c.*721G>A	BRCA1	Single nucleotide variant (3 prime UTR variant)	BRCA1-related disorder	GLikely benign
Select item 1337343	NM_007294.4(BRCA1):c.*713C>T	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 323416	NM_007294.4(BRCA1):c.*693C>T	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GUncertain significance
Select item 890274	NM_007294.4(BRCA1):c.*685C>G	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GUncertain significance
Select item 1337128	NM_007294.4(BRCA1):c.*683C>G	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3337589	NM_007294.4(BRCA1):c.5278-1970_*669del	BRCA1	Deletion (splice acceptor variant +1 more)	not provided	GPathogenic
Select item 2692403	NM_007294.4(BRCA1):c.5468-364_*630del	BRCA1	Deletion (splice acceptor variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 1337265	NM_007294.4(BRCA1):c.616_617delinsAA	BRCA1	Indel (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1337626	NM_007294.4(BRCA1):c.*595G>A	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1685578	NC_000017.11:g.43045086_43057213del	BRCA1	Deletion	Familial cancer of breast	GPathogenic
Select item 1336756	NM_007294.4(BRCA1):c.*565del	BRCA1	Deletion (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1337425	NM_007294.4(BRCA1):c.*548G>C	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3038363	NM_007294.4(BRCA1):c.*536A>G	BRCA1	Single nucleotide variant (3 prime UTR variant)	BRCA1-related disorder	GLikely benign
Select item 415550	NM_007294.4(BRCA1):c.*528G>C	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 3352239	NM_007294.4(BRCA1):c.*525T>C	BRCA1	Single nucleotide variant (3 prime UTR variant)	BRCA1-related disorder	GUncertain significance
Select item 323417	NM_007294.4(BRCA1):c.*485G>A	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1 +1 more	GUncertain significance
Select item 1336673	NM_007294.4(BRCA1):c.*482T>G	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 323418	NM_007294.4(BRCA1):c.*465G>A	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1 +1 more	GUncertain significance
Select item 209234	NM_007294.4(BRCA1):c.*421G>T	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 1338574	NM_007294.4(BRCA1):c.381_389delinsAAGCACAGAGTGGCTTGGCCTCAAGAG	BRCA1	Indel (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 323419	NM_007294.4(BRCA1):c.*387T>G	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GUncertain significance
Select item 2851581	NM_007294.4(BRCA1):c.*309T>C	BRCA1	Single nucleotide variant (3 prime UTR variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 1336445	NM_007294.4(BRCA1):c.*306C>G	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 240767	NM_007294.4(BRCA1):c.*291C>T	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 890840	NM_007294.4(BRCA1):c.*272A>G	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GUncertain significance
Select item 1337397	NM_007294.4(BRCA1):c.*265G>A	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 209235	NM_007294.4(BRCA1):c.*228A>G	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 1336952	NM_007294.4(BRCA1):c.*186G>A	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1803223	NM_007294.4(BRCA1):c.*136C>G	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GUncertain significance
Select item 2682147	NM_007294.4(BRCA1):c.*126T>G	BRCA1	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 1332042	NM_007294.4(BRCA1):c.*106C>T	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GBenign
Select item 125875	NM_007294.4(BRCA1):c.*106C>G	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 96891	NM_007294.4(BRCA1):c.103_106del	BRCA1	Deletion (3 prime UTR variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 1332352	NM_007294.4(BRCA1):c.*105T>C	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2774822	NM_007294.4(BRCA1):c.*104G>A	BRCA1	Single nucleotide variant (3 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 928073	NM_007294.4(BRCA1):c.101_103del	BRCA1	Deletion (3 prime UTR variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1 +1 more	GUncertain significance
Select item 3356079	NM_007294.4(BRCA1):c.*99C>A	BRCA1	Single nucleotide variant (3 prime UTR variant)	BRCA1-related disorder	GLikely benign
Select item 1679087	NC_000017.11:g.(?_43045584)_(43045853_?)del	BRCA1	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 1692955	NM_007294.4(BRCA1):c.*58C>G	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance

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