20473[HGNC] - 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 57542	GRCh38/hg38 17q23.1-23.2(chr17:60043448-62148729)x1	APPBP2, APPBP2-DT +61 more	Copy number loss	See cases	GPathogenic
Select item 57455	GRCh38/hg38 17q23.1-23.2(chr17:60095339-62237942)x1	APPBP2, APPBP2-DT +56 more	Copy number loss	See cases	GPathogenic
Select item 146527	GRCh38/hg38 17q23.2(chr17:60255192-62237942)x1	APPBP2, APPBP2-DT +49 more	Copy number loss	See cases	GPathogenic
Select item 151771	GRCh38/hg38 17q23.2-23.3(chr17:61631101-63219455)x1	BRIP1, EFCAB3 +39 more	Copy number loss	See cases	GLikely pathogenic
Select item 891957	NM_032043.3(BRIP1):c.*4053T>C	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GUncertain significance
Select item 891958	NM_032043.3(BRIP1):c.*4040T>A	BRIP1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 324287	NM_032043.3(BRIP1):c.*4000T>C	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GBenign
Select item 324288	NM_032043.3(BRIP1):c.*3924T>G	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GUncertain significance
Select item 324289	NM_032043.3(BRIP1):c.*3918C>T	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GUncertain significance
Select item 889520	NM_032043.3(BRIP1):c.*3827T>C	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GUncertain significance
Select item 324290	NM_032043.3(BRIP1):c.*3821A>G	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GUncertain significance
Select item 889521	NM_032043.3(BRIP1):c.*3755A>G	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GLikely benign
Select item 889522	NM_032043.3(BRIP1):c.*3635T>C	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GUncertain significance
Select item 324291	NM_032043.3(BRIP1):c.*3617T>C	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GUncertain significance
Select item 889523	NM_032043.3(BRIP1):c.*3580T>A	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GUncertain significance
Select item 324292	NM_032043.3(BRIP1):c.*3514T>G	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GBenign
Select item 324293	NM_032043.3(BRIP1):c.*3489T>C	BRIP1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 324294	NM_032043.3(BRIP1):c.*3488A>T	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GBenign
Select item 324295	NM_032043.3(BRIP1):c.*3479A>G	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GLikely benign
Select item 890184	NM_032043.3(BRIP1):c.*3465A>T	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GUncertain significance
Select item 324296	NM_032043.3(BRIP1):c.*3450T>C	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GBenign
Select item 324297	NM_032043.3(BRIP1):c.*3307T>C	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GUncertain significance
Select item 890759	NM_032043.3(BRIP1):c.*3302G>T	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GLikely benign
Select item 324298	NM_032043.3(BRIP1):c.*3188G>A	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GUncertain significance
Select item 324299	NM_032043.3(BRIP1):c.*3145A>G	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GUncertain significance
Select item 324300	NM_032043.3(BRIP1):c.*3114del	BRIP1	Deletion (3 prime UTR variant)	Fanconi anemia +1 more	GLikely benign
Select item 890760	NM_032043.3(BRIP1):c.*3093A>T	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GUncertain significance
Select item 890761	NM_032043.3(BRIP1):c.*3000C>G	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GUncertain significance
Select item 890762	NM_032043.3(BRIP1):c.*2999T>C	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GUncertain significance
Select item 324301	NM_032043.3(BRIP1):c.*2926T>A	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GUncertain significance
Select item 324302	NM_032043.3(BRIP1):c.*2908C>T	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GLikely benign
Select item 891997	NM_032043.3(BRIP1):c.*2868A>G	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GUncertain significance
Select item 324305	NM_032043.3(BRIP1):c.2819_2820insAAAAAAA	BRIP1	Insertion (3 prime UTR variant)	Breast neoplasm +1 more	GUncertain significance
Select item 324304	NM_032043.3(BRIP1):c.2819_2820insAAAAAA	BRIP1	Insertion (3 prime UTR variant)	Breast neoplasm +1 more	GUncertain significance
Select item 324303	NM_032043.3(BRIP1):c.2819_2820insAAAA	BRIP1	Insertion (3 prime UTR variant)	Breast neoplasm +1 more	GUncertain significance
Select item 324307	NM_032043.3(BRIP1):c.2817_2818insGAAAGA	BRIP1	Insertion (3 prime UTR variant)	Fanconi anemia +1 more	GUncertain significance
Select item 2648000	NM_032043.3(BRIP1):c.2809_2815dup	BRIP1	Duplication (3 prime UTR variant)	not provided	GLikely benign
Select item 324312	NM_032043.3(BRIP1):c.2811_2815dup	BRIP1	Duplication (3 prime UTR variant)	Breast neoplasm +1 more	GUncertain significance
Select item 324311	NM_032043.3(BRIP1):c.2812_2815dup	BRIP1	Duplication (3 prime UTR variant)	Breast neoplasm +1 more	GUncertain significance
Select item 324310	NM_032043.3(BRIP1):c.2813_2815A[6]GAAA[1]	BRIP1	Insertion (3 prime UTR variant)	Breast neoplasm +1 more	GUncertain significance
Select item 324306	NM_032043.3(BRIP1):c.2813_2815A[4]GAAA[1]	BRIP1	Insertion (3 prime UTR variant)	Breast neoplasm +1 more	GUncertain significance
Select item 210534	NM_032043.3(BRIP1):c.2813_2815A[5]GAAA[1]	BRIP1	Insertion (3 prime UTR variant)	Breast neoplasm +2 more	GUncertain significance
Select item 891998	NM_032043.3(BRIP1):c.*2812A>G	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GUncertain significance
Select item 891999	NM_032043.3(BRIP1):c.*2756G>A	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GUncertain significance
Select item 892000	NM_032043.3(BRIP1):c.*2744A>G	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GUncertain significance
Select item 324313	NM_032043.3(BRIP1):c.*2715C>T	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GUncertain significance
Select item 324314	NM_032043.3(BRIP1):c.*2692A>G	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GUncertain significance
Select item 324315	NM_032043.3(BRIP1):c.*2691C>G	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GUncertain significance
Select item 892001	NM_032043.3(BRIP1):c.*2672G>A	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GUncertain significance
Select item 324316	NM_032043.3(BRIP1):c.*2668G>A	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GUncertain significance
Select item 324317	NM_032043.3(BRIP1):c.*2667C>T	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GUncertain significance
Select item 889584	NM_032043.3(BRIP1):c.*2656A>G	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GUncertain significance
Select item 324318	NM_032043.3(BRIP1):c.*2538G>A	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GBenign
Select item 324319	NM_032043.3(BRIP1):c.*2522A>G	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GUncertain significance
Select item 324320	NM_032043.3(BRIP1):c.*2337A>T	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GUncertain significance
Select item 324321	NM_032043.3(BRIP1):c.*2241T>C	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GBenign
Select item 210533	NM_032043.3(BRIP1):c.*2090G>C	BRIP1	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GBenign/Likely benign
Select item 324322	NM_032043.3(BRIP1):c.2082_2085del	BRIP1	Deletion (3 prime UTR variant)	Fanconi anemia	GLikely benign
Select item 890234	NM_032043.3(BRIP1):c.*2070G>A	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GUncertain significance
Select item 324323	NM_032043.3(BRIP1):c.*1964T>C	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GLikely benign
Select item 890235	NM_032043.3(BRIP1):c.*1930G>C	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GUncertain significance
Select item 890236	NM_032043.3(BRIP1):c.*1908T>C	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GUncertain significance
Select item 324324	NM_032043.3(BRIP1):c.*1868G>T	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GUncertain significance
Select item 324325	NM_032043.3(BRIP1):c.*1820C>T	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GBenign
Select item 890237	NM_032043.3(BRIP1):c.*1801T>G	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GUncertain significance
Select item 890238	NM_032043.3(BRIP1):c.*1792G>A	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GUncertain significance
Select item 890803	NM_032043.3(BRIP1):c.*1409T>A	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GUncertain significance
Select item 324326	NM_032043.3(BRIP1):c.*1393G>T	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GUncertain significance
Select item 324327	NM_032043.3(BRIP1):c.*1381G>T	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GUncertain significance
Select item 324328	NM_032043.3(BRIP1):c.*1374T>C	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GBenign
Select item 890804	NM_032043.3(BRIP1):c.*1330C>T	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GUncertain significance
Select item 324329	NM_032043.3(BRIP1):c.*1263A>G	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GBenign
Select item 324330	NM_032043.3(BRIP1):c.*1255AG[1]	BRIP1	Microsatellite (3 prime UTR variant)	Fanconi anemia +1 more	GUncertain significance
Select item 890805	NM_032043.3(BRIP1):c.*1239C>A	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GUncertain significance
Select item 324331	NM_032043.3(BRIP1):c.1048_1050del	BRIP1	Deletion (3 prime UTR variant)	Fanconi anemia +1 more	GUncertain significance
Select item 324332	NM_032043.3(BRIP1):c.*900C>A	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GUncertain significance
Select item 324333	NM_032043.3(BRIP1):c.*729C>T	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GLikely benign
Select item 892042	NM_032043.3(BRIP1):c.*684C>A	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GUncertain significance
Select item 892043	NM_032043.3(BRIP1):c.*659G>A	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GUncertain significance
Select item 324334	NM_032043.3(BRIP1):c.*616A>G	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GBenign
Select item 892044	NM_032043.3(BRIP1):c.*612A>G	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GUncertain significance
Select item 892045	NM_032043.3(BRIP1):c.*524A>G	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GUncertain significance
Select item 324335	NM_032043.3(BRIP1):c.*483C>T	BRIP1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 888581	NM_032043.3(BRIP1):c.*477A>G	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GUncertain significance
Select item 324336	NM_032043.3(BRIP1):c.*421C>T	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GUncertain significance
Select item 324337	NM_032043.3(BRIP1):c.*394CT[1]	BRIP1	Microsatellite (3 prime UTR variant)	not provided +2 more	GUncertain significance
Select item 324338	NM_032043.3(BRIP1):c.*380C>T	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GUncertain significance
Select item 324339	NM_032043.3(BRIP1):c.*339G>C	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia +1 more	GUncertain significance
Select item 324340	NM_032043.3(BRIP1):c.*288A>G	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GUncertain significance
Select item 324341	NM_032043.3(BRIP1):c.*283del	BRIP1	Deletion (3 prime UTR variant)	Breast neoplasm +1 more	GLikely benign
Select item 324342	NM_032043.3(BRIP1):c.*280G>C	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GBenign
Select item 324343	NM_032043.3(BRIP1):c.*172G>C	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J +1 more	GBenign/Likely benign
Select item 324344	NM_032043.3(BRIP1):c.*158T>C	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J +1 more	GBenign
Select item 324345	NM_032043.3(BRIP1):c.*152G>T	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GLikely benign
Select item 890280	NM_032043.3(BRIP1):c.*132G>A	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J	GUncertain significance
Select item 324346	NM_032043.3(BRIP1):c.*128A>G	BRIP1	Single nucleotide variant (3 prime UTR variant)	Familial cancer of breast +1 more	GConflicting classifications of pathogenicity
Select item 630024	NM_032043.3(BRIP1):c.*17A>G	BRIP1	Single nucleotide variant (3 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 388417	NM_032043.3(BRIP1):c.*15C>G	BRIP1	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign

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