ClinVar for MedGen (Select 87542) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26639781.	NM_000051.4(ATM):c.1246G>C (p.Ala416Pro) GRCh37: Chr11:108121438 GRCh38: Chr11:108250711	ATM	A416P	Familial cancer of breast	Uncertain significance (Nov 13, 2023)	criteria provided, single submitter
Select item 26267672.	NM_032043.3(BRIP1):c.2459A>C (p.Gln820Pro) GRCh37: Chr17:59793345 GRCh38: Chr17:61715984	BRIP1	Q820P	Familial cancer of breast	Uncertain significance (Oct 24, 2023)	criteria provided, single submitter
Select item 25853303.	NM_001142556.2(HMMR):c.1360G>A (p.Glu454Lys) GRCh37: Chr5:162905781 GRCh38: Chr5:163478775	HMMR	E454K, E367K, E438K, E453K	Familial cancer of breast	Uncertain significance	criteria provided, single submitter
Select item 25853294.	NM_003579.4(RAD54L):c.2209C>T (p.Gln737Ter) GRCh37: Chr1:46743919 GRCh38: Chr1:46278247	LRRC41, RAD54L	Q737, Q557	Familial cancer of breast	Uncertain significance	criteria provided, single submitter
Select item 25851025.	NM_024675.4(PALB2):c.1779T>G (p.His593Gln) GRCh37: Chr16:23641696 GRCh38: Chr16:23630375	PALB2	H298Q, H593Q, H573Q	Familial cancer of breast	Uncertain significance	criteria provided, single submitter
Select item 25850186.	NM_000465.4(BARD1):c.1559G>A (p.Arg520Lys) GRCh37: Chr2:215632215 GRCh38: Chr2:214767491	BARD1	R520K, R501K	Familial cancer of breast	Uncertain significance	criteria provided, single submitter
Select item 25843337.	NM_032043.3(BRIP1):c.37del (p.Gly12_Val13insTer) GRCh37: Chr17:59938864 GRCh38: Chr17:61861503	BRIP1		Familial cancer of breast	Pathogenic (May 30, 2023)	criteria provided, single submitter
Select item 25843318.	NM_032043.3(BRIP1):c.1770_1771delinsA (p.Asn590fs) GRCh37: Chr17:59858224-59858225 GRCh38: Chr17:61780863-61780864	BRIP1	N590fs	Familial cancer of breast	Pathogenic (Jun 5, 2023)	criteria provided, single submitter
Select item 25843309.	NM_007194.4(CHEK2):c.1253_1254insA (p.Phe418fs) GRCh37: Chr22:29091703-29091704 GRCh38: Chr22:28695715-28695716	CHEK2	F197fs, F351fs, F389fs, F418fs, F461fs	Familial cancer of breast	Pathogenic (Jun 28, 2023)	criteria provided, single submitter
Select item 258432610.	NM_032043.3(BRIP1):c.2258-1G>C GRCh37: Chr17:59820496 GRCh38: Chr17:61743135	BRIP1		Familial cancer of breast	Likely pathogenic (Jun 6, 2023)	criteria provided, single submitter
Select item 258432211.	NM_007194.4(CHEK2):c.339del (p.Trp114fs) GRCh37: Chr22:29121336 GRCh38: Chr22:28725348	CHEK2	W114fs, W157fs	Familial cancer of breast	Pathogenic (Jun 23, 2023)	criteria provided, single submitter
Select item 258432112.	NM_032043.3(BRIP1):c.622C>T (p.Gln208Ter) GRCh37: Chr17:59924467 GRCh38: Chr17:61847106	BRIP1	Q208*	Familial cancer of breast	Pathogenic (May 31, 2023)	criteria provided, single submitter
Select item 258432013.	NM_007194.4(CHEK2):c.1036del (p.Arg346fs) GRCh37: Chr22:29092948 GRCh38: Chr22:28696960	CHEK2	R125fs, R279fs, R346fs, R389fs	Familial cancer of breast	Pathogenic (Jun 27, 2023)	criteria provided, single submitter
Select item 258431614.	NM_000465.4(BARD1):c.50_62del (p.Gly17fs) GRCh37: Chr2:215674232-215674244 GRCh38: Chr2:214809508-214809520	BARD1	G17fs	Familial cancer of breast	Pathogenic (May 17, 2023)	criteria provided, single submitter
Select item 258431515.	NM_007194.4(CHEK2):c.241G>T (p.Glu81Ter) GRCh37: Chr22:29130469 GRCh38: Chr22:28734481	CHEK2	E81*	Familial cancer of breast	Pathogenic (Jun 23, 2023)	criteria provided, single submitter
Select item 258431316.	NM_032043.3(BRIP1):c.1966A>T (p.Lys656Ter) GRCh37: Chr17:59853893 GRCh38: Chr17:61776532	BRIP1	K656*	Familial cancer of breast	Pathogenic (Jun 5, 2023)	criteria provided, single submitter
Select item 258431217.	NM_000465.4(BARD1):c.1139del (p.Asn380fs) GRCh37: Chr2:215645459 GRCh38: Chr2:214780735	BARD1	N361fs, N380fs	Familial cancer of breast	Pathogenic (May 22, 2023)	criteria provided, single submitter
Select item 258431118.	NM_032043.3(BRIP1):c.2448del (p.Trp816fs) GRCh37: Chr17:59793356 GRCh38: Chr17:61715995	BRIP1	W816fs	Familial cancer of breast	Pathogenic (Jun 6, 2023)	criteria provided, single submitter
Select item 258431019.	NM_000465.4(BARD1):c.1598del (p.Tyr533fs) GRCh37: Chr2:215617250 GRCh38: Chr2:214752526	BARD1	Y514fs, Y533fs, Y63fs, Y82fs	Familial cancer of breast	Pathogenic (May 23, 2023)	criteria provided, single submitter
Select item 258430820.	NM_007194.4(CHEK2):c.817G>T (p.Glu273Ter) GRCh37: Chr22:29106023 GRCh38: Chr22:28710035	CHEK2	E206, E273, E316, E52	Familial cancer of breast	Pathogenic (Jun 27, 2023)	criteria provided, single submitter
Select item 258430721.	NM_007194.4(CHEK2):c.847-2A>C GRCh37: Chr22:29099556 GRCh38: Chr22:28703568	CHEK2		Familial cancer of breast	Likely pathogenic (Jun 27, 2023)	criteria provided, single submitter
Select item 258430622.	NM_000465.4(BARD1):c.529C>T (p.Gln177Ter) GRCh37: Chr2:215646069 GRCh38: Chr2:214781345	BARD1	Q158, Q177	Familial cancer of breast	Pathogenic (May 19, 2023)	criteria provided, single submitter
Select item 258430523.	NM_007194.4(CHEK2):c.1335C>G (p.Tyr445Ter) GRCh37: Chr22:29091155 GRCh38: Chr22:28695167	CHEK2	Y224, Y378, Y416, Y445, Y488*	Familial cancer of breast	Pathogenic (Jun 28, 2023)	criteria provided, single submitter
Select item 258430224.	NM_024675.4(PALB2):c.191C>A (p.Ser64Ter) GRCh37: Chr16:23649191 GRCh38: Chr16:23637870	PALB2	S44, S64	Familial cancer of breast	Pathogenic (Apr 26, 2023)	criteria provided, single submitter
Select item 258430125.	NM_000465.4(BARD1):c.150C>A (p.Cys50Ter) GRCh37: Chr2:215674144 GRCh38: Chr2:214809420	BARD1	C50*	Familial cancer of breast	Pathogenic (May 18, 2023)	criteria provided, single submitter
Select item 258429926.	NM_000465.4(BARD1):c.1677+1G>T GRCh37: Chr2:215617170 GRCh38: Chr2:214752446	BARD1		Familial cancer of breast	Likely pathogenic (May 23, 2023)	criteria provided, single submitter
Select item 258429627.	NM_007194.4(CHEK2):c.1327G>T (p.Gly443Ter) GRCh37: Chr22:29091163 GRCh38: Chr22:28695175	CHEK2	G222, G376, G414, G443, G486*	Familial cancer of breast	Pathogenic (Jun 28, 2023)	criteria provided, single submitter
Select item 258429228.	NM_007194.4(CHEK2):c.779C>G (p.Ser260Ter) GRCh37: Chr22:29107910 GRCh38: Chr22:28711922	CHEK2	S193, S260, S303, S39	Familial cancer of breast	Pathogenic (Jun 26, 2023)	criteria provided, single submitter
Select item 258428929.	NM_032043.3(BRIP1):c.2258-2A>C GRCh37: Chr17:59820497 GRCh38: Chr17:61743136	BRIP1		Familial cancer of breast	Likely pathogenic (Jun 6, 2023)	criteria provided, single submitter
Select item 258428730.	NM_032043.3(BRIP1):c.2576-2A>C GRCh37: Chr17:59763528 GRCh38: Chr17:61686167	BRIP1		Familial cancer of breast	Likely pathogenic (Jun 7, 2023)	criteria provided, single submitter
Select item 258428231.	NM_007194.4(CHEK2):c.1375+1del GRCh37: Chr22:29091114 GRCh38: Chr22:28695126	CHEK2		Familial cancer of breast	Likely pathogenic (Jun 28, 2023)	criteria provided, single submitter
Select item 258427732.	NM_032043.3(BRIP1):c.1500dup (p.Glu501fs) GRCh37: Chr17:59861758-59861759 GRCh38: Chr17:61784397-61784398	BRIP1	E501fs	Familial cancer of breast	Pathogenic (Jun 2, 2023)	criteria provided, single submitter
Select item 258427033.	NM_032043.3(BRIP1):c.502C>T (p.Gln168Ter) GRCh37: Chr17:59926495 GRCh38: Chr17:61849134	BRIP1	Q168*	Familial cancer of breast	Pathogenic (May 31, 2023)	criteria provided, single submitter
Select item 258426834.	NM_032043.3(BRIP1):c.2864del (p.Asn955fs) GRCh37: Chr17:59763238 GRCh38: Chr17:61685877	BRIP1	N955fs	Familial cancer of breast	Pathogenic (Jun 7, 2023)	criteria provided, single submitter
Select item 258426735.	NM_007194.4(CHEK2):c.792+1G>C GRCh37: Chr22:29107896 GRCh38: Chr22:28711908	CHEK2		Familial cancer of breast	Likely pathogenic (Jun 27, 2023)	criteria provided, single submitter
Select item 258426636.	NM_000465.4(BARD1):c.589A>T (p.Lys197Ter) GRCh37: Chr2:215646009 GRCh38: Chr2:214781285	BARD1	K178, K197	Familial cancer of breast	Pathogenic (May 19, 2023)	criteria provided, single submitter
Select item 258426237.	NM_007194.4(CHEK2):c.573del (p.Ser192fs) GRCh37: Chr22:29120984 GRCh38: Chr22:28724996	CHEK2	S192fs, S235fs	Familial cancer of breast	Pathogenic (Jun 26, 2023)	criteria provided, single submitter
Select item 258426038.	NM_032043.3(BRIP1):c.1261del (p.Glu421fs) GRCh37: Chr17:59876540 GRCh38: Chr17:61799179	BRIP1	E421fs	Familial cancer of breast	Pathogenic (Jun 1, 2023)	criteria provided, single submitter
Select item 258425739.	NM_032043.3(BRIP1):c.2770G>T (p.Glu924Ter) GRCh37: Chr17:59763332 GRCh38: Chr17:61685971	BRIP1	E924*	Familial cancer of breast	Pathogenic (Jun 7, 2023)	criteria provided, single submitter
Select item 258425640.	NM_000051.4(ATM):c.3994-1G>A GRCh37: Chr11:108158326 GRCh38: Chr11:108287599	ATM		Familial cancer of breast	Likely pathogenic (Apr 28, 2023)	criteria provided, single submitter
Select item 258425541.	NM_032043.3(BRIP1):c.107T>A (p.Leu36Ter) GRCh37: Chr17:59937255 GRCh38: Chr17:61859894	BRIP1	L36*	Familial cancer of breast	Pathogenic (May 30, 2023)	criteria provided, single submitter
Select item 258425242.	NM_007194.4(CHEK2):c.993del (p.Met331fs) GRCh37: Chr22:29095841 GRCh38: Chr22:28699853	CHEK2	M110fs, M264fs, M331fs, M374fs	Familial cancer of breast	Pathogenic (Jun 27, 2023)	criteria provided, single submitter
Select item 258424943.	NM_007194.4(CHEK2):c.1442T>G (p.Leu481Ter) GRCh37: Chr22:29090039 GRCh38: Chr22:28694051	CHEK2	L260, L414, L452, L481, L524*	Hereditary cancer-predisposing syndrome, Familial cancer of breast	Pathogenic (Jun 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 258424644.	NM_007194.4(CHEK2):c.22G>T (p.Glu8Ter) GRCh37: Chr22:29130688 GRCh38: Chr22:28734700	CHEK2	E8*	Familial cancer of breast	Pathogenic (Jun 22, 2023)	criteria provided, single submitter
Select item 258424545.	NM_000465.4(BARD1):c.1476T>G (p.Tyr492Ter) GRCh37: Chr2:215632298 GRCh38: Chr2:214767574	BARD1	Y473, Y492	Hereditary cancer-predisposing syndrome, Familial cancer of breast	Pathogenic (Jul 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 258424446.	NM_032043.3(BRIP1):c.628-1G>T GRCh37: Chr17:59886119 GRCh38: Chr17:61808758	BRIP1		Familial cancer of breast	Likely pathogenic (May 31, 2023)	criteria provided, single submitter
Select item 258424047.	NM_032043.3(BRIP1):c.469G>T (p.Glu157Ter) GRCh37: Chr17:59926528 GRCh38: Chr17:61849167	BRIP1	E157*	Familial cancer of breast	Pathogenic (May 31, 2023)	criteria provided, single submitter
Select item 258423848.	NM_032043.3(BRIP1):c.2846del (p.Pro949fs) GRCh37: Chr17:59763256 GRCh38: Chr17:61685895	BRIP1	P949fs	Familial cancer of breast	Pathogenic (Jun 7, 2023)	criteria provided, single submitter
Select item 258423349.	NM_032043.3(BRIP1):c.1928del (p.Asn643fs) GRCh37: Chr17:59857629 GRCh38: Chr17:61780268	BRIP1	N643fs	Familial cancer of breast	Pathogenic (Jun 5, 2023)	criteria provided, single submitter
Select item 258422950.	NM_007194.4(CHEK2):c.1374del (p.Ala459fs) GRCh37: Chr22:29091116 GRCh38: Chr22:28695128	CHEK2	A238fs, A392fs, A430fs, A459fs, A502fs	Familial cancer of breast	Pathogenic (Jun 28, 2023)	criteria provided, single submitter
Select item 258422751.	NM_007194.4(CHEK2):c.1498_1501del (p.Ser500fs) GRCh37: Chr22:29085164-29085167 GRCh38: Chr22:28689176-28689179	CHEK2	S279fs, S433fs, S471fs, S500fs, S543fs	Familial cancer of breast	Pathogenic (May 24, 2023)	criteria provided, single submitter
Select item 258422452.	NM_007194.4(CHEK2):c.263del (p.Pro88fs) GRCh37: Chr22:29130447 GRCh38: Chr22:28734459	CHEK2	P88fs	Familial cancer of breast	Pathogenic (Jun 23, 2023)	criteria provided, single submitter
Select item 258422353.	NM_007194.4(CHEK2):c.444+2T>G GRCh37: Chr22:29121229 GRCh38: Chr22:28725241	CHEK2		Familial cancer of breast	Likely pathogenic (Jun 23, 2023)	criteria provided, single submitter
Select item 258421954.	NM_032043.3(BRIP1):c.1628+2T>G GRCh37: Chr17:59861629 GRCh38: Chr17:61784268	BRIP1		Familial cancer of breast	Likely pathogenic (Jun 2, 2023)	criteria provided, single submitter
Select item 258421855.	NM_007194.4(CHEK2):c.865A>T (p.Lys289Ter) GRCh37: Chr22:29099536 GRCh38: Chr22:28703548	CHEK2	K222, K289, K332, K68	Familial cancer of breast	Pathogenic (Jun 27, 2023)	criteria provided, single submitter
Select item 258421756.	NM_032043.3(BRIP1):c.2258-2A>T GRCh37: Chr17:59820497 GRCh38: Chr17:61743136	BRIP1		Familial cancer of breast	Likely pathogenic (Jun 6, 2023)	criteria provided, single submitter
Select item 258421557.	NM_032043.3(BRIP1):c.1471del (p.Gln491fs) GRCh37: Chr17:59870960 GRCh38: Chr17:61793599	BRIP1	Q491fs	Familial cancer of breast	Pathogenic (Jun 2, 2023)	criteria provided, single submitter
Select item 258421458.	NM_032043.3(BRIP1):c.1594del (p.Met532fs) GRCh37: Chr17:59861665 GRCh38: Chr17:61784304	BRIP1	M532fs	Familial cancer of breast	Pathogenic (Jun 2, 2023)	criteria provided, single submitter
Select item 258421159.	NM_032043.3(BRIP1):c.424_466del (p.Lys141_Lys142insTer) GRCh37: Chr17:59926531-59926573 GRCh38: Chr17:61849170-61849212	BRIP1		Familial cancer of breast	Pathogenic (May 30, 2023)	criteria provided, single submitter
Select item 258421060.	NM_007194.4(CHEK2):c.335_342delinsCACATTCACACA (p.Asn112fs) GRCh37: Chr22:29121333-29121340 GRCh38: Chr22:28725345-28725352	CHEK2	N112fs, N155fs	Familial cancer of breast	Pathogenic (Jun 23, 2023)	criteria provided, single submitter
Select item 258420761.	NM_007194.4(CHEK2):c.1131_1132del (p.Glu377fs) GRCh37: Chr22:29091825-29091826 GRCh38: Chr22:28695837-28695838	CHEK2	E156fs, E310fs, E348fs, E377fs, E420fs	Familial cancer of breast	Pathogenic (Jun 28, 2023)	criteria provided, single submitter
Select item 258420662.	NM_000465.4(BARD1):c.101G>A (p.Trp34Ter) GRCh37: Chr2:215674193 GRCh38: Chr2:214809469	BARD1	W34*	Familial cancer of breast	Pathogenic (May 17, 2023)	criteria provided, single submitter
Select item 258420563.	NM_000465.4(BARD1):c.483_490del (p.Ser162fs) GRCh37: Chr2:215646108-215646115 GRCh38: Chr2:214781384-214781391	BARD1	S143fs, S162fs	Familial cancer of breast	Pathogenic (May 18, 2023)	criteria provided, single submitter
Select item 258420464.	NM_000465.4(BARD1):c.623del (p.Lys208fs) GRCh37: Chr2:215645975 GRCh38: Chr2:214781251	BARD1	K189fs, K208fs	not provided, Familial cancer of breast	Pathogenic/Likely pathogenic (May 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 258420365.	NM_000465.4(BARD1):c.628del (p.Thr210fs) GRCh37: Chr2:215645970 GRCh38: Chr2:214781246	BARD1	T191fs, T210fs	Familial cancer of breast	Pathogenic (May 19, 2023)	criteria provided, single submitter
Select item 258420166.	NM_000465.4(BARD1):c.1386G>A (p.Trp462Ter) GRCh37: Chr2:215633965 GRCh38: Chr2:214769241	BARD1	W443, W462	Familial cancer of breast	Pathogenic (May 23, 2023)	criteria provided, single submitter
Select item 258419767.	NM_032043.3(BRIP1):c.2599C>T (p.Gln867Ter) GRCh37: Chr17:59763503 GRCh38: Chr17:61686142	BRIP1	Q867*	Familial cancer of breast	Pathogenic (Jun 7, 2023)	criteria provided, single submitter
Select item 258419568.	NM_032043.3(BRIP1):c.1228del (p.Ser409_Val410insTer) GRCh37: Chr17:59876573 GRCh38: Chr17:61799212	BRIP1		Familial cancer of breast	Pathogenic (Jun 1, 2023)	criteria provided, single submitter
Select item 258419069.	NM_007194.4(CHEK2):c.402delinsAA (p.Asp134fs) GRCh37: Chr22:29121273 GRCh38: Chr22:28725285	CHEK2	D134fs, D177fs	Familial cancer of breast	Pathogenic (Jun 23, 2023)	criteria provided, single submitter
Select item 258418670.	NM_032043.3(BRIP1):c.1504G>T (p.Glu502Ter) GRCh37: Chr17:59861755 GRCh38: Chr17:61784394	BRIP1	E502*	Familial cancer of breast	Pathogenic (Jun 2, 2023)	criteria provided, single submitter
Select item 258418371.	NM_032043.3(BRIP1):c.566C>A (p.Ser189Ter) GRCh37: Chr17:59924523 GRCh38: Chr17:61847162	BRIP1	S189*	Familial cancer of breast	Pathogenic (May 31, 2023)	criteria provided, single submitter
Select item 258417972.	NM_007194.4(CHEK2):c.555_585del (p.Asn185fs) GRCh37: Chr22:29120972-29121002 GRCh38: Chr22:28724984-28725014	CHEK2	N185fs, N228fs	Familial cancer of breast	Pathogenic (Jun 26, 2023)	criteria provided, single submitter
Select item 258417773.	NM_000465.4(BARD1):c.1790_1794dup (p.Glu599fs) GRCh37: Chr2:215610461-215610462 GRCh38: Chr2:214745737-214745738	BARD1	E129fs, E148fs, E580fs, E599fs	Familial cancer of breast	Pathogenic (May 24, 2023)	criteria provided, single submitter
Select item 258417374.	NM_007194.4(CHEK2):c.743del (p.Ile248fs) GRCh37: Chr22:29107946 GRCh38: Chr22:28711958	CHEK2	I181fs, I248fs, I27fs, I291fs	Familial cancer of breast	Pathogenic (Jun 26, 2023)	criteria provided, single submitter
Select item 258416575.	NM_007194.4(CHEK2):c.254del (p.Pro85fs) GRCh37: Chr22:29130456 GRCh38: Chr22:28734468	CHEK2	P85fs	Familial cancer of breast	Pathogenic (Jun 23, 2023)	criteria provided, single submitter
Select item 258416476.	NM_032043.3(BRIP1):c.1703del (p.Asn568fs) GRCh37: Chr17:59858292 GRCh38: Chr17:61780931	BRIP1	N568fs	Familial cancer of breast	Pathogenic (Jun 5, 2023)	criteria provided, single submitter
Select item 258416377.	NM_032043.3(BRIP1):c.427C>T (p.Gln143Ter) GRCh37: Chr17:59926570 GRCh38: Chr17:61849209	BRIP1	Q143*	Familial cancer of breast	Pathogenic (May 30, 2023)	criteria provided, single submitter
Select item 258415978.	NM_007194.4(CHEK2):c.1275del (p.Pro426fs) GRCh37: Chr22:29091215 GRCh38: Chr22:28695227	CHEK2	P205fs, P359fs, P397fs, P426fs, P469fs	Familial cancer of breast	Pathogenic (Jun 28, 2023)	criteria provided, single submitter
Select item 258415779.	NM_032043.3(BRIP1):c.1900C>T (p.Gln634Ter) GRCh37: Chr17:59857657 GRCh38: Chr17:61780296	BRIP1	Q634*	Familial cancer of breast	Pathogenic (Jun 5, 2023)	criteria provided, single submitter
Select item 258415380.	NM_007194.4(CHEK2):c.1259+2T>A GRCh37: Chr22:29091696 GRCh38: Chr22:28695708	CHEK2		Familial cancer of breast	Likely pathogenic (Jun 28, 2023)	criteria provided, single submitter
Select item 258414781.	NM_000465.4(BARD1):c.884_888del (p.Asn295fs) GRCh37: Chr2:215645710-215645714 GRCh38: Chr2:214780986-214780990	BARD1	N276fs, N295fs	Familial cancer of breast	Pathogenic (May 19, 2023)	criteria provided, single submitter
Select item 258414182.	NM_007194.4(CHEK2):c.992_999delinsGCTT (p.Met331fs) GRCh37: Chr22:29095835-29095842 GRCh38: Chr22:28699847-28699854	CHEK2	M110fs, M264fs, M331fs, M374fs	Familial cancer of breast	Pathogenic (Jun 27, 2023)	criteria provided, single submitter
Select item 258414083.	NM_007194.4(CHEK2):c.290G>A (p.Trp97Ter) GRCh37: Chr22:29130420 GRCh38: Chr22:28734432	CHEK2	W97*	Familial cancer of breast	Pathogenic (Jun 23, 2023)	criteria provided, single submitter
Select item 258413984.	NM_007194.4(CHEK2):c.1304C>A (p.Ser435Ter) GRCh37: Chr22:29091186 GRCh38: Chr22:28695198	CHEK2	S214, S368, S406, S435, S478*	Familial cancer of breast	Pathogenic (Jun 28, 2023)	criteria provided, single submitter
Select item 258413885.	NM_007194.4(CHEK2):c.1444A>T (p.Arg482Ter) GRCh37: Chr22:29090037 GRCh38: Chr22:28694049	CHEK2	R261, R415, R453, R482, R525*	Familial cancer of breast	Pathogenic (Jun 28, 2023)	criteria provided, single submitter
Select item 258413786.	NM_007194.4(CHEK2):c.592+2T>A GRCh37: Chr22:29120963 GRCh38: Chr22:28724975	CHEK2		Familial cancer of breast	Likely pathogenic (Jun 26, 2023)	criteria provided, single submitter
Select item 258413487.	NM_007194.4(CHEK2):c.1543-1G>T GRCh37: Chr22:29083975 GRCh38: Chr22:28687987	CHEK2		Familial cancer of breast	Likely pathogenic (Jun 29, 2023)	criteria provided, single submitter
Select item 258412088.	NM_007194.4(CHEK2):c.320-1G>A GRCh37: Chr22:29121356 GRCh38: Chr22:28725368	CHEK2		Familial cancer of breast	Likely pathogenic (Jun 23, 2023)	criteria provided, single submitter
Select item 258411989.	NM_000465.4(BARD1):c.682G>T (p.Glu228Ter) GRCh37: Chr2:215645916 GRCh38: Chr2:214781192	BARD1	E209, E228	Familial cancer of breast	Pathogenic (May 19, 2023)	criteria provided, single submitter
Select item 258410890.	NM_000465.4(BARD1):c.2002-1G>T GRCh37: Chr2:215593733 GRCh38: Chr2:214729009	BARD1		Familial cancer of breast	Likely pathogenic (May 25, 2023)	criteria provided, single submitter
Select item 258410391.	NM_007194.4(CHEK2):c.1009-1G>T GRCh37: Chr22:29092976 GRCh38: Chr22:28696988	CHEK2		Familial cancer of breast	Likely pathogenic (Jun 27, 2023)	criteria provided, single submitter
Select item 258409792.	NM_000051.4(ATM):c.4909+8T>G GRCh37: Chr11:108165794 GRCh38: Chr11:108295067	ATM		Familial cancer of breast	Likely benign (Sep 5, 2023)	criteria provided, single submitter
Select item 258402693.	NM_032043.3(BRIP1):c.2257+2T>G GRCh37: Chr17:59821791 GRCh38: Chr17:61744430	BRIP1		Familial cancer of breast	Likely pathogenic (Jun 6, 2023)	criteria provided, single submitter
Select item 258385094.	NM_032043.3(BRIP1):c.106_107insG (p.Leu36fs) GRCh37: Chr17:59937255-59937256 GRCh38: Chr17:61859894-61859895	BRIP1	L36fs	Familial cancer of breast	Pathogenic (Jun 21, 2023)	criteria provided, single submitter
Select item 258383995.	NM_024675.4(PALB2):c.3295_3305del (p.Thr1099fs) GRCh37: Chr16:23619230-23619240 GRCh38: Chr16:23607909-23607919	PALB2	T1099fs	Familial cancer of breast	Pathogenic (Jun 5, 2023)	criteria provided, single submitter
Select item 258383696.	NM_007194.4(CHEK2):c.46dup (p.Ser16fs) GRCh37: Chr22:29130663-29130664 GRCh38: Chr22:28734675-28734676	CHEK2	S16fs	Familial cancer of breast	Pathogenic (May 30, 2023)	criteria provided, single submitter
Select item 258383397.	NM_000051.4(ATM):c.8555dup (p.Tyr2852Ter) GRCh37: Chr11:108216605-108216606 GRCh38: Chr11:108345878-108345879	ATM, C11orf65	Y2852*	Familial cancer of breast	Pathogenic (May 25, 2023)	criteria provided, single submitter
Select item 258382498.	NM_007194.4(CHEK2):c.409_427del (p.Arg137fs) GRCh37: Chr22:29121248-29121266 GRCh38: Chr22:28725260-28725278	CHEK2	R137fs, R180fs	Familial cancer of breast	Pathogenic (May 12, 2023)	criteria provided, single submitter
Select item 258382299.	NM_000051.4(ATM):c.6021_6022dup (p.Ile2008fs) GRCh37: Chr11:108186562-108186563 GRCh38: Chr11:108315835-108315836	ATM, C11orf65	I2008fs	Familial cancer of breast	Pathogenic (May 12, 2023)	criteria provided, single submitter
Select item 2583819100.	NM_032043.3(BRIP1):c.428_447del (p.Gln143fs) GRCh37: Chr17:59926550-59926569 GRCh38: Chr17:61849189-61849208	BRIP1	Q143fs	Familial cancer of breast	Pathogenic (May 30, 2023)	criteria provided, single submitter

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