ClinVar for MedGen (Select 323015) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24387641.	NM_032043.3(BRIP1):c.1341-1G>C GRCh37: Chr17:59871091 GRCh38: Chr17:61793730	BRIP1		Fanconi anemia complementation group J	Likely pathogenic (Jan 27, 2023)	criteria provided, single submitter
Select item 24319392.	NM_201280.3(BLOC1S5):c.19G>T (p.Glu7Ter) GRCh37: Chr6:8064591 GRCh38: Chr6:8064358	BLOC1S5, BLOC1S5-TXNDC5, EEF1E1-BLOC1S5	E7*	Fanconi anemia complementation group J	Likely pathogenic (Sep 23, 2022)	criteria provided, single submitter
Select item 24282433.	NM_032043.3(BRIP1):c.1582A>T (p.Lys528Ter) GRCh37: Chr17:59861677 GRCh38: Chr17:61784316	BRIP1	K528*	Familial cancer of breast, Fanconi anemia complementation group J, Fanconi anemia complementation group J	Pathogenic/Likely pathogenic (Sep 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 24281524.	NM_032043.3(BRIP1):c.1770C>A (p.Asn590Lys) GRCh37: Chr17:59858225 GRCh38: Chr17:61780864	BRIP1	N590K	Familial cancer of breast, Fanconi anemia complementation group J	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 24270055.	NC_000017.10:g.(?_59770781)_(59770883_?)dup GRCh37: Chr17:59770781-59770883	BRIP1		Familial cancer of breast, Fanconi anemia complementation group J	Likely pathogenic (Feb 19, 2022)	criteria provided, single submitter
Select item 24270046.	NC_000017.10:g.(?_59937147)_(59938900_?)del GRCh37: Chr17:59937147-59938900	BRIP1		Familial cancer of breast, Fanconi anemia complementation group J	Pathogenic (Sep 8, 2021)	criteria provided, single submitter
Select item 24270037.	NC_000017.10:g.(?_59857612)_(59858376_?)del GRCh37: Chr17:59857612-59858376	BRIP1		Familial cancer of breast, Fanconi anemia complementation group J	Pathogenic (Sep 8, 2021)	criteria provided, single submitter
Select item 24270028.	NC_000017.10:g.(?_59926480)_(59926627_?)del GRCh37: Chr17:59926480-59926627	BRIP1		Familial cancer of breast, Fanconi anemia complementation group J	Pathogenic (Jul 19, 2022)	criteria provided, single submitter
Select item 24270019.	NC_000017.10:g.(?_59760657)_(59761511_?)del GRCh37: Chr17:59760657-59761511	BRIP1		Familial cancer of breast, Fanconi anemia complementation group J	Pathogenic (Oct 3, 2022)	criteria provided, single submitter
Select item 242700010.	NC_000017.10:g.(?_59861718)_(59940920_?)del GRCh37: Chr17:59861718-59940920	BRIP1		Familial cancer of breast, Fanconi anemia complementation group J	Pathogenic (Jul 19, 2022)	criteria provided, single submitter
Select item 242699911.	NC_000017.10:g.(?_59760657)_(59934602_?)del GRCh37: Chr17:59760657-59934602	BRIP1		Familial cancer of breast, Fanconi anemia complementation group J	Pathogenic (Jun 30, 2022)	criteria provided, single submitter
Select item 242699812.	NC_000017.10:g.(?_59760657)_(59763536_?)del GRCh37: Chr17:59760657-59763536	BRIP1		Familial cancer of breast, Fanconi anemia complementation group J	Pathogenic (May 11, 2022)	criteria provided, single submitter
Select item 242699713.	NC_000017.10:g.(?_59853752)_(59858376_?)del GRCh37: Chr17:59853752-59858376	BRIP1		Familial cancer of breast, Fanconi anemia complementation group J	Pathogenic (Jan 13, 2020)	criteria provided, single submitter
Select item 242699614.	NC_000017.10:g.(?_59760657)_(59861805_?)del GRCh37: Chr17:59760657-59861805	BRIP1		Familial cancer of breast, Fanconi anemia complementation group J	Pathogenic (Apr 13, 2022)	criteria provided, single submitter
Select item 242699515.	NC_000017.10:g.(?_59937147)_(59937278_?)del GRCh37: Chr17:59937147-59937278	BRIP1		Familial cancer of breast, Fanconi anemia complementation group J	Pathogenic (Oct 3, 2022)	criteria provided, single submitter
Select item 242030616.	NM_032043.3(BRIP1):c.2492+9A>G GRCh37: Chr17:59793303 GRCh38: Chr17:61715942	BRIP1		Familial cancer of breast, Fanconi anemia complementation group J	Likely benign (Feb 11, 2022)	criteria provided, single submitter
Select item 241914517.	NM_032043.3(BRIP1):c.1727del (p.Asn576fs) GRCh37: Chr17:59858268 GRCh38: Chr17:61780907	BRIP1	N576fs	Familial cancer of breast, Fanconi anemia complementation group J	Pathogenic (Jun 21, 2022)	criteria provided, single submitter
Select item 220260018.	NM_032043.3(BRIP1):c.1474-20A>C GRCh37: Chr17:59861805 GRCh38: Chr17:61784444	BRIP1		Fanconi anemia complementation group J, Familial cancer of breast	Likely benign (Jan 6, 2022)	criteria provided, single submitter
Select item 219513019.	NM_032043.3(BRIP1):c.1935+11del GRCh37: Chr17:59857611 GRCh38: Chr17:61780250	BRIP1		Familial cancer of breast, Fanconi anemia complementation group J	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 219308520.	NM_032043.3(BRIP1):c.2576-13C>T GRCh37: Chr17:59763539 GRCh38: Chr17:61686178	BRIP1		Familial cancer of breast, Fanconi anemia complementation group J	Likely benign (Aug 4, 2022)	criteria provided, single submitter
Select item 219050521.	NM_032043.3(BRIP1):c.1844G>A (p.Gly615Asp) GRCh37: Chr17:59857713 GRCh38: Chr17:61780352	BRIP1	G615D	Fanconi anemia complementation group J, Familial cancer of breast	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 219049422.	NM_032043.3(BRIP1):c.3441T>C (p.Asn1147_Asp1148=) GRCh37: Chr17:59760966 GRCh38: Chr17:61683605	BRIP1		Fanconi anemia complementation group J, Familial cancer of breast	Likely benign (Jul 17, 2022)	criteria provided, single submitter
Select item 218896823.	NM_032043.3(BRIP1):c.3086G>A (p.Ser1029Asn) GRCh37: Chr17:59761321 GRCh38: Chr17:61683960	BRIP1	S1029N	Fanconi anemia complementation group J, Familial cancer of breast	Uncertain significance (Mar 21, 2022)	criteria provided, single submitter
Select item 218879824.	NM_032043.3(BRIP1):c.1419G>T (p.Met473Ile) GRCh37: Chr17:59871012 GRCh38: Chr17:61793651	BRIP1	M473I	Fanconi anemia complementation group J, Familial cancer of breast	Uncertain significance (May 17, 2022)	criteria provided, single submitter
Select item 218837125.	NM_032043.3(BRIP1):c.3320T>C (p.Leu1107Pro) GRCh37: Chr17:59761087 GRCh38: Chr17:61683726	BRIP1	L1107P	Fanconi anemia complementation group J, Familial cancer of breast	Uncertain significance (Feb 5, 2022)	criteria provided, single submitter
Select item 218466726.	NM_032043.3(BRIP1):c.379+6T>A GRCh37: Chr17:59934413 GRCh38: Chr17:61857052	BRIP1		Fanconi anemia complementation group J, Familial cancer of breast	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 217541927.	NM_032043.3(BRIP1):c.1456A>G (p.Thr486Ala) GRCh37: Chr17:59870975 GRCh38: Chr17:61793614	BRIP1	T486A	Fanconi anemia complementation group J, Familial cancer of breast	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 217337228.	NM_032043.3(BRIP1):c.3504del (p.Asp1169fs) GRCh37: Chr17:59760903 GRCh38: Chr17:61683542	BRIP1	D1169fs	Familial cancer of breast, Fanconi anemia complementation group J	Uncertain significance (Jan 6, 2022)	criteria provided, single submitter
Select item 216938929.	NM_032043.3(BRIP1):c.2634G>A (p.Leu878_Glu879=) GRCh37: Chr17:59763468 GRCh38: Chr17:61686107	BRIP1		Familial cancer of breast, Fanconi anemia complementation group J	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 216700730.	NM_032043.3(BRIP1):c.1140+7AT[3] GRCh37: Chr17:59878603-59878604 GRCh38: Chr17:61801242-61801243	BRIP1		Familial cancer of breast, Fanconi anemia complementation group J	Likely benign (May 16, 2022)	criteria provided, single submitter
Select item 216695731.	NM_032043.3(BRIP1):c.2905+18C>T GRCh37: Chr17:59763179 GRCh38: Chr17:61685818	BRIP1		Familial cancer of breast, Fanconi anemia complementation group J	Likely benign (Feb 17, 2022)	criteria provided, single submitter
Select item 216509532.	NM_032043.3(BRIP1):c.93+14A>C GRCh37: Chr17:59938794 GRCh38: Chr17:61861433	BRIP1		Familial cancer of breast, Fanconi anemia complementation group J	Likely benign (Feb 21, 2022)	criteria provided, single submitter
Select item 216505733.	NM_032043.3(BRIP1):c.2906-13C>T GRCh37: Chr17:59761514 GRCh38: Chr17:61684153	BRIP1		Familial cancer of breast, Fanconi anemia complementation group J	Likely benign (Mar 17, 2022)	criteria provided, single submitter
Select item 216385934.	NM_032043.3(BRIP1):c.1001C>G (p.Ala334Gly) GRCh37: Chr17:59878753 GRCh38: Chr17:61801392	BRIP1	A334G	Familial cancer of breast, Fanconi anemia complementation group J	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 216277335.	NM_032043.3(BRIP1):c.1340+6A>T GRCh37: Chr17:59876455 GRCh38: Chr17:61799094	BRIP1		Familial cancer of breast, Fanconi anemia complementation group J	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 216152436.	NM_032043.3(BRIP1):c.1794+13T>C GRCh37: Chr17:59858188 GRCh38: Chr17:61780827	BRIP1		Familial cancer of breast, Fanconi anemia complementation group J	Likely benign (May 20, 2022)	criteria provided, single submitter
Select item 216051837.	NM_032043.3(BRIP1):c.1049G>A (p.Cys350Tyr) GRCh37: Chr17:59878705 GRCh38: Chr17:61801344	BRIP1	C350Y	Familial cancer of breast, Fanconi anemia complementation group J	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 215682138.	NM_032043.3(BRIP1):c.627+11A>G GRCh37: Chr17:59924451 GRCh38: Chr17:61847090	BRIP1		Familial cancer of breast, Fanconi anemia complementation group J	Likely benign (Oct 31, 2022)	criteria provided, single submitter
Select item 215635339.	NM_032043.3(BRIP1):c.2386C>G (p.Leu796Val) GRCh37: Chr17:59793418 GRCh38: Chr17:61716057	BRIP1	L796V	Familial cancer of breast, Fanconi anemia complementation group J	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 215575240.	NM_032043.3(BRIP1):c.1935+11_1935+12del GRCh37: Chr17:59857610-59857611 GRCh38: Chr17:61780249-61780250	BRIP1		Familial cancer of breast, Fanconi anemia complementation group J	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 215319041.	NM_032043.3(BRIP1):c.1340+13G>T GRCh37: Chr17:59876448 GRCh38: Chr17:61799087	BRIP1		Fanconi anemia complementation group J, Familial cancer of breast	Likely benign (Dec 16, 2021)	criteria provided, single submitter
Select item 215003842.	NM_032043.3(BRIP1):c.2410C>T (p.His804Tyr) GRCh37: Chr17:59793394 GRCh38: Chr17:61716033	BRIP1	H804Y	Fanconi anemia complementation group J, Familial cancer of breast	Uncertain significance (Dec 17, 2021)	criteria provided, single submitter
Select item 214962943.	NM_032043.3(BRIP1):c.1795-15G>A GRCh37: Chr17:59857777 GRCh38: Chr17:61780416	BRIP1		Fanconi anemia complementation group J, Familial cancer of breast	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 214794944.	NM_032043.3(BRIP1):c.415T>C (p.Ser139Pro) GRCh37: Chr17:59926582 GRCh38: Chr17:61849221	BRIP1	S139P	Fanconi anemia complementation group J, Familial cancer of breast	Uncertain significance (Jul 22, 2022)	criteria provided, single submitter
Select item 214082945.	NM_032043.3(BRIP1):c.2899del (p.Glu967fs) GRCh37: Chr17:59763203 GRCh38: Chr17:61685842	BRIP1	E967fs	Fanconi anemia complementation group J, Familial cancer of breast	Likely pathogenic (Jan 5, 2022)	criteria provided, single submitter
Select item 213809446.	NM_032043.3(BRIP1):c.452del (p.Asn151fs) GRCh37: Chr17:59926545 GRCh38: Chr17:61849184	BRIP1	N151fs	Familial cancer of breast, Fanconi anemia complementation group J	Pathogenic (Sep 3, 2022)	criteria provided, single submitter
Select item 213809247.	NM_032043.3(BRIP1):c.2495G>A (p.Cys832Tyr) GRCh37: Chr17:59770871 GRCh38: Chr17:61693510	BRIP1	C832Y	Familial cancer of breast, Fanconi anemia complementation group J	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 213779448.	NM_032043.3(BRIP1):c.2493-13C>T GRCh37: Chr17:59770886 GRCh38: Chr17:61693525	BRIP1		Familial cancer of breast, Fanconi anemia complementation group J	Likely benign (Apr 7, 2022)	criteria provided, single submitter
Select item 213577649.	NM_032043.3(BRIP1):c.2609A>G (p.His870Arg) GRCh37: Chr17:59763493 GRCh38: Chr17:61686132	BRIP1	H870R	Familial cancer of breast, Fanconi anemia complementation group J	Uncertain significance (May 9, 2022)	criteria provided, single submitter
Select item 213577550.	NM_032043.3(BRIP1):c.94-8G>A GRCh37: Chr17:59937276 GRCh38: Chr17:61859915	BRIP1		Familial cancer of breast, Fanconi anemia complementation group J	Likely benign (May 9, 2022)	criteria provided, single submitter
Select item 213527951.	NM_032043.3(BRIP1):c.726G>T (p.Lys242Asn) GRCh37: Chr17:59886020 GRCh38: Chr17:61808659	BRIP1	K242N	Familial cancer of breast, Fanconi anemia complementation group J	Uncertain significance (May 7, 2022)	criteria provided, single submitter
Select item 213367552.	NM_032043.3(BRIP1):c.1341-16T>C GRCh37: Chr17:59871106 GRCh38: Chr17:61793745	BRIP1		Fanconi anemia complementation group J, Familial cancer of breast	Likely benign (May 4, 2022)	criteria provided, single submitter
Select item 213296953.	NM_032043.3(BRIP1):c.1527T>C (p.Gly509_Lys510=) GRCh37: Chr17:59861732 GRCh38: Chr17:61784371	BRIP1		Fanconi anemia complementation group J, Familial cancer of breast	Likely benign (May 3, 2022)	criteria provided, single submitter
Select item 213192454.	NM_032043.3(BRIP1):c.3682G>A (p.Glu1228Lys) GRCh37: Chr17:59760725 GRCh38: Chr17:61683364	BRIP1	E1228K	Fanconi anemia complementation group J, Familial cancer of breast	Uncertain significance (Apr 29, 2022)	criteria provided, single submitter
Select item 213105655.	NM_032043.3(BRIP1):c.919-14A>T GRCh37: Chr17:59878849 GRCh38: Chr17:61801488	BRIP1		Fanconi anemia complementation group J, Familial cancer of breast	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 213049456.	NM_032043.3(BRIP1):c.2906-17A>C GRCh37: Chr17:59761518 GRCh38: Chr17:61684157	BRIP1		Fanconi anemia complementation group J, Familial cancer of breast	Likely benign (Apr 25, 2022)	criteria provided, single submitter
Select item 212960457.	NM_032043.3(BRIP1):c.3533A>G (p.Glu1178Gly) GRCh37: Chr17:59760874 GRCh38: Chr17:61683513	BRIP1	E1178G	Familial cancer of breast, Fanconi anemia complementation group J	Uncertain significance (Apr 23, 2022)	criteria provided, single submitter
Select item 212948658.	NM_032043.3(BRIP1):c.603del (p.Lys201_Ile202insTer) GRCh37: Chr17:59924486 GRCh38: Chr17:61847125	BRIP1		Familial cancer of breast, Fanconi anemia complementation group J	Pathogenic (Sep 12, 2022)	criteria provided, single submitter
Select item 212913459.	NM_032043.3(BRIP1):c.1104del (p.Tyr369fs) GRCh37: Chr17:59878650 GRCh38: Chr17:61801289	BRIP1	Y369fs	Familial cancer of breast, Fanconi anemia complementation group J	Pathogenic (Apr 22, 2022)	criteria provided, single submitter
Select item 212909260.	NM_032043.3(BRIP1):c.3113C>G (p.Thr1038Arg) GRCh37: Chr17:59761294 GRCh38: Chr17:61683933	BRIP1	T1038R	Familial cancer of breast, Fanconi anemia complementation group J	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 212907961.	NM_032043.3(BRIP1):c.3430G>A (p.Glu1144Lys) GRCh37: Chr17:59760977 GRCh38: Chr17:61683616	BRIP1	E1144K	Familial cancer of breast, Fanconi anemia complementation group J	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 212878562.	NM_032043.3(BRIP1):c.1293del (p.Lys432fs) GRCh37: Chr17:59876508 GRCh38: Chr17:61799147	BRIP1	K432fs	Familial cancer of breast, Fanconi anemia complementation group J	Pathogenic (Apr 21, 2022)	criteria provided, single submitter
Select item 212877063.	NM_032043.3(BRIP1):c.1683G>T (p.Gln561His) GRCh37: Chr17:59858312 GRCh38: Chr17:61780951	BRIP1	Q561H	Familial cancer of breast, Fanconi anemia complementation group J	Uncertain significance (Apr 21, 2022)	criteria provided, single submitter
Select item 212867064.	NM_032043.3(BRIP1):c.1144G>T (p.Asp382Tyr) GRCh37: Chr17:59876657 GRCh38: Chr17:61799296	BRIP1	D382Y	Familial cancer of breast, Fanconi anemia complementation group J	Uncertain significance (Apr 21, 2022)	criteria provided, single submitter
Select item 212859265.	NM_032043.3(BRIP1):c.2058T>A (p.Thr686_Val687=) GRCh37: Chr17:59853801 GRCh38: Chr17:61776440	BRIP1		Familial cancer of breast, Fanconi anemia complementation group J	Likely benign (Apr 21, 2022)	criteria provided, single submitter
Select item 212813066.	NM_032043.3(BRIP1):c.2905+2T>A GRCh37: Chr17:59763195 GRCh38: Chr17:61685834	BRIP1		Familial cancer of breast, Fanconi anemia complementation group J	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 212710967.	NM_032043.3(BRIP1):c.2754_2755delinsTC (p.Ser919Pro) GRCh37: Chr17:59763347-59763348 GRCh38: Chr17:61685986-61685987	BRIP1	S919P	Familial cancer of breast, Fanconi anemia complementation group J	Likely benign (Apr 17, 2022)	criteria provided, single submitter
Select item 212664868.	NM_032043.3(BRIP1):c.3513del (p.Phe1171fs) GRCh37: Chr17:59760894 GRCh38: Chr17:61683533	BRIP1	F1171fs	Familial cancer of breast, Fanconi anemia complementation group J	Uncertain significance (Apr 16, 2022)	criteria provided, single submitter
Select item 212616069.	NM_032043.3(BRIP1):c.2692del (p.Asp898fs) GRCh37: Chr17:59763410 GRCh38: Chr17:61686049	BRIP1	D898fs	Familial cancer of breast, Fanconi anemia complementation group J	Pathogenic (Apr 15, 2022)	criteria provided, single submitter
Select item 212586270.	NM_032043.3(BRIP1):c.2939C>A (p.Ala980Glu) GRCh37: Chr17:59761468 GRCh38: Chr17:61684107	BRIP1	A980E	Fanconi anemia complementation group J, Familial cancer of breast	Uncertain significance (Apr 13, 2022)	criteria provided, single submitter
Select item 212586071.	NM_032043.3(BRIP1):c.918+12T>G GRCh37: Chr17:59885816 GRCh38: Chr17:61808455	BRIP1		Fanconi anemia complementation group J, Familial cancer of breast	Likely benign (Apr 13, 2022)	criteria provided, single submitter
Select item 212536972.	NM_032043.3(BRIP1):c.2596C>T (p.Gln866Ter) GRCh37: Chr17:59763506 GRCh38: Chr17:61686145	BRIP1	Q866*	Fanconi anemia complementation group J, Familial cancer of breast	Pathogenic (Apr 12, 2022)	criteria provided, single submitter
Select item 212422273.	NM_032043.3(BRIP1):c.2906-13C>A GRCh37: Chr17:59761514 GRCh38: Chr17:61684153	BRIP1		Fanconi anemia complementation group J, Familial cancer of breast	Likely benign (Apr 10, 2022)	criteria provided, single submitter
Select item 212375274.	NM_032043.3(BRIP1):c.628-2dup GRCh37: Chr17:59886119-59886120 GRCh38: Chr17:61808758-61808759	BRIP1		Fanconi anemia complementation group J, Familial cancer of breast	Uncertain significance (Apr 9, 2022)	criteria provided, single submitter
Select item 212372475.	NM_032043.3(BRIP1):c.199C>G (p.Leu67Val) GRCh37: Chr17:59937163 GRCh38: Chr17:61859802	BRIP1	L67V	Fanconi anemia complementation group J, Familial cancer of breast	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 212288976.	NM_032043.3(BRIP1):c.1794+14G>C GRCh37: Chr17:59858187 GRCh38: Chr17:61780826	BRIP1		Fanconi anemia complementation group J, Familial cancer of breast	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 212174777.	NM_032043.3(BRIP1):c.1426dup (p.Thr476fs) GRCh37: Chr17:59871004-59871005 GRCh38: Chr17:61793643-61793644	BRIP1	T476fs	Fanconi anemia complementation group J, Familial cancer of breast	Pathogenic (May 10, 2022)	criteria provided, single submitter
Select item 212173878.	NM_032043.3(BRIP1):c.3694A>G (p.Lys1232Glu) GRCh37: Chr17:59760713 GRCh38: Chr17:61683352	BRIP1	K1232E	Fanconi anemia complementation group J, Familial cancer of breast	Uncertain significance (Apr 5, 2022)	criteria provided, single submitter
Select item 212173779.	NM_032043.3(BRIP1):c.643_644insGTGGCACCCC (p.Ser215fs) GRCh37: Chr17:59886102-59886103 GRCh38: Chr17:61808741-61808742	BRIP1	S215fs	Fanconi anemia complementation group J, Familial cancer of breast	Pathogenic (Apr 5, 2022)	criteria provided, single submitter
Select item 212082580.	NM_032043.3(BRIP1):c.2387T>C (p.Leu796Pro) GRCh37: Chr17:59793417 GRCh38: Chr17:61716056	BRIP1	L796P	Fanconi anemia complementation group J, Familial cancer of breast	Uncertain significance (Sep 26, 2022)	criteria provided, single submitter
Select item 212018281.	NM_032043.3(BRIP1):c.2837T>A (p.Leu946Gln) GRCh37: Chr17:59763265 GRCh38: Chr17:61685904	BRIP1	L946Q	Fanconi anemia complementation group J, Familial cancer of breast	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 211975382.	NM_032043.3(BRIP1):c.2492+1G>T GRCh37: Chr17:59793311 GRCh38: Chr17:61715950	BRIP1		Familial cancer of breast, Fanconi anemia complementation group J	Likely pathogenic (Mar 31, 2022)	criteria provided, single submitter
Select item 211913183.	NM_032043.3(BRIP1):c.667C>G (p.Gln223Glu) GRCh37: Chr17:59886079 GRCh38: Chr17:61808718	BRIP1	Q223E	Familial cancer of breast, Fanconi anemia complementation group J	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 211884684.	NM_032043.3(BRIP1):c.2973A>G (p.Pro991_Thr992=) GRCh37: Chr17:59761434 GRCh38: Chr17:61684073	BRIP1		Familial cancer of breast, Fanconi anemia complementation group J	Likely benign (Mar 28, 2022)	criteria provided, single submitter
Select item 211865685.	NM_032043.3(BRIP1):c.1272T>C (p.Ser424_Met425=) GRCh37: Chr17:59876529 GRCh38: Chr17:61799168	BRIP1		Familial cancer of breast, Fanconi anemia complementation group J	Likely benign (Mar 28, 2022)	criteria provided, single submitter
Select item 211838686.	NM_032043.3(BRIP1):c.2315C>T (p.Ser772Leu) GRCh37: Chr17:59820438 GRCh38: Chr17:61743077	BRIP1	S772L	Familial cancer of breast, Fanconi anemia complementation group J	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 211829587.	NM_032043.3(BRIP1):c.428A>T (p.Gln143Leu) GRCh37: Chr17:59926569 GRCh38: Chr17:61849208	BRIP1	Q143L	Familial cancer of breast, Fanconi anemia complementation group J	Uncertain significance (Mar 27, 2022)	criteria provided, single submitter
Select item 211829188.	NM_032043.3(BRIP1):c.1628+14A>G GRCh37: Chr17:59861617 GRCh38: Chr17:61784256	BRIP1		Familial cancer of breast, Fanconi anemia complementation group J	Likely benign (Mar 27, 2022)	criteria provided, single submitter
Select item 211744489.	NM_032043.3(BRIP1):c.3509T>A (p.Leu1170His) GRCh37: Chr17:59760898 GRCh38: Chr17:61683537	BRIP1	L1170H	Familial cancer of breast, Fanconi anemia complementation group J	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 211609490.	NM_032043.3(BRIP1):c.2613T>A (p.His871Gln) GRCh37: Chr17:59763489 GRCh38: Chr17:61686128	BRIP1	H871Q	Familial cancer of breast, Fanconi anemia complementation group J	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 211595391.	NM_032043.3(BRIP1):c.3323T>G (p.Val1108Gly) GRCh37: Chr17:59761084 GRCh38: Chr17:61683723	BRIP1	V1108G	Fanconi anemia complementation group J, Familial cancer of breast	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 211549592.	NM_032043.3(BRIP1):c.919-10T>A GRCh37: Chr17:59878845 GRCh38: Chr17:61801484	BRIP1		Fanconi anemia complementation group J, Familial cancer of breast	Uncertain significance (Mar 21, 2022)	criteria provided, single submitter
Select item 211469093.	NM_032043.3(BRIP1):c.2493-17_2493-16del GRCh37: Chr17:59770889-59770890 GRCh38: Chr17:61693528-61693529	BRIP1		Fanconi anemia complementation group J, Familial cancer of breast	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 211375394.	NM_032043.3(BRIP1):c.2665C>T (p.Gln889Ter) GRCh37: Chr17:59763437 GRCh38: Chr17:61686076	BRIP1	Q889*	Fanconi anemia complementation group J, Familial cancer of breast	Pathogenic (Mar 18, 2022)	criteria provided, single submitter
Select item 211314795.	NM_032043.3(BRIP1):c.3149C>G (p.Thr1050Ser) GRCh37: Chr17:59761258 GRCh38: Chr17:61683897	BRIP1	T1050S	Fanconi anemia complementation group J, Familial cancer of breast	Uncertain significance (Mar 16, 2022)	criteria provided, single submitter
Select item 211205396.	NM_032043.3(BRIP1):c.1535A>G (p.Glu512Gly) GRCh37: Chr17:59861724 GRCh38: Chr17:61784363	BRIP1	E512G	Fanconi anemia complementation group J, Familial cancer of breast	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 211144197.	NM_032043.3(BRIP1):c.1744C>A (p.Gln582Lys) GRCh37: Chr17:59858251 GRCh38: Chr17:61780890	BRIP1	Q582K	Fanconi anemia complementation group J, Familial cancer of breast	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 211123498.	NM_032043.3(BRIP1):c.93+3A>C GRCh37: Chr17:59938805 GRCh38: Chr17:61861444	BRIP1		Fanconi anemia complementation group J, Familial cancer of breast	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 210984599.	NM_032043.3(BRIP1):c.1289T>A (p.Ile430Lys) GRCh37: Chr17:59876512 GRCh38: Chr17:61799151	BRIP1	I430K	Familial cancer of breast, Fanconi anemia complementation group J	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 2108649100.	NM_032043.3(BRIP1):c.2982del (p.Asn994fs) GRCh37: Chr17:59761425 GRCh38: Chr17:61684064	BRIP1	N994fs	Familial cancer of breast, Fanconi anemia complementation group J	Pathogenic (Mar 10, 2022)	criteria provided, single submitter

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