ClinVar for MedGen (Select 423615) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25752381.	NM_000251.3(MSH2):c.659_661delinsAAT (p.Gly220_Gly221delinsGluTer) GRCh37: Chr2:47639566-47639568 GRCh38: Chr2:47412427-47412429	MSH2		Lynch syndrome 1	Likely pathogenic (Jun 2, 2023)	criteria provided, single submitter
Select item 25752372.	NM_000251.3(MSH2):c.2291_2297del (p.Trp764fs) GRCh37: Chr2:47705489-47705495 GRCh38: Chr2:47478350-47478356	MSH2	W312fs, W465fs, W624fs, W698fs, W714fs, W744fs, W753fs, W764fs, W777fs	Lynch syndrome 1	Likely pathogenic (Apr 4, 2023)	criteria provided, single submitter
Select item 25741353.	NM_000251.3(MSH2):c.1077-1865_1276+742del GRCh37: Chr2:47655013-47657819 GRCh38: Chr2:47427874-47430680	MSH2		Lynch syndrome 1	Pathogenic (Feb 23, 2021)	criteria provided, single submitter
Select item 25732844.	NM_000251.3(MSH2):c.2042_2045delinsCAAT (p.Gln681_Thr682delinsProIle) GRCh37: Chr2:47703542-47703545 GRCh38: Chr2:47476403-47476406	MSH2		Lynch syndrome 1	Likely pathogenic (Jun 12, 2023)	criteria provided, single submitter
Select item 25732515.	NM_000251.3(MSH2):c.1246_1247delinsT (p.Asn416fs) GRCh37: Chr2:47657050-47657051 GRCh38: Chr2:47429911-47429912	MSH2	N117fs, N276fs, N350fs, N366fs, N396fs, N405fs, N416fs	Lynch syndrome 1	Pathogenic (Feb 14, 2023)	criteria provided, single submitter
Select item 25732366.	NM_000251.3(MSH2):c.1659_1661+2delinsGAGGG GRCh37: Chr2:47693945-47693949 GRCh38: Chr2:47466806-47466810	MSH2		Lynch syndrome 1	Likely pathogenic (Mar 16, 2023)	criteria provided, single submitter
Select item 25731817.	NM_000251.3(MSH2):c.640_645+1del GRCh37: Chr2:47637505-47637511 GRCh38: Chr2:47410366-47410372	MSH2		Lynch syndrome 1	Likely pathogenic (Jul 7, 2023)	criteria provided, single submitter
Select item 25034878.	GRCh37/hg19 2p21(chr2:47511660-47641537)x1 GRCh37: Chr2:47482114-47665324	BCYRN1, EPCAM, MSH2		Lynch syndrome 1	Pathogenic (May 26, 2023)	no assertion criteria provided
Select item 25034839.	GRCh37/hg19 2p21(chr2:47547722-47641537)x1 GRCh37: Chr2:47526868-47665324	BCYRN1, EPCAM, MSH2		Lynch syndrome 1	Pathogenic (May 26, 2023)	no assertion criteria provided
Select item 250286810.	NM_000249.4(MLH1):c.2128_2131dup (p.Ser711Ter) GRCh37: Chr3:37092000-37092001 GRCh38: Chr3:37050509-37050510	MLH1	S353, S370, S470, S613, S642, S656, S678, S680, S711*	Lynch syndrome 1	Likely pathogenic	no assertion criteria provided
Select item 250286711.	NM_000249.4(MLH1):c.1168del (p.Glu390fs) GRCh37: Chr3:37067255 GRCh38: Chr3:37025764	MLH1	E149fs, E292fs, E32fs, E357fs, E390fs, E49fs	Lynch syndrome 1	Likely pathogenic	no assertion criteria provided
Select item 250286612.	NC_000002.11:g.(?_47690170)_(47708011_?)del GRCh37: Chr2:47690170-47708011	MSH2		Lynch syndrome 1	Likely pathogenic	no assertion criteria provided
Select item 250286513.	NM_000251.3(MSH2):c.1942dup (p.Ile648fs) GRCh37: Chr2:47702343-47702344 GRCh38: Chr2:47475204-47475205	MSH2	I196fs, I349fs, I508fs, I582fs, I598fs, I628fs, I637fs, I648fs, I661fs	Lynch syndrome 1	Likely pathogenic	no assertion criteria provided
Select item 250286414.	NC_000002.12:g.(?_47614711)_(47657080_?)del GRCh38: Chr2:47614711-47657080	MSH2		Lynch syndrome 1	Likely pathogenic	no assertion criteria provided
Select item 250286315.	NC_000002.12:g.(?_47612305)_(47643568_?)del GRCh38: Chr2:47612305-47643568	MSH2		Lynch syndrome 1	Likely pathogenic	no assertion criteria provided
Select item 250285916.	NM_000179.3(MSH6):c.3522dup (p.Thr1175fs) GRCh37: Chr2:48032129-48032130 GRCh38: Chr2:47804990-47804991	MSH6	T1000fs, T102fs, T1045fs, T1076fs, T1117fs, T1119fs, T1149fs, T1175fs, T1177fs, T1207fs, T124fs, T490fs, T653fs, T873fs, T887fs	Lynch syndrome 1	Likely pathogenic	no assertion criteria provided
Select item 250285817.	NM_000179.3(MSH6):c.1998dup (p.Asp667Ter) GRCh37: Chr2:48027119-48027120 GRCh38: Chr2:47799980-47799981	MSH6	D365, D492, D537, D568, D611, D641, D667, D669, D699*	Lynch syndrome 1	Likely pathogenic	no assertion criteria provided
Select item 250285718.	NM_000535.7(PMS2):c.1666del (p.Glu556fs) GRCh37: Chr7:6026730 GRCh38: Chr7:5987099	PMS2	E245fs, E299fs, E365fs, E369fs, E385fs, E398fs, E401fs, E421fs, E434fs, E444fs, E448fs, E450fs, E453fs, E490fs, E500fs, E504fs, E520fs, E556fs, E564fs, E618fs	Lynch syndrome 1	Likely pathogenic	no assertion criteria provided
Select item 250285619.	NM_000179.3(MSH6):c.2308G>T (p.Gly770Cys) GRCh37: Chr2:48027430 GRCh38: Chr2:47800291	MSH6	D770Y, G468C, G595C, G640C, G671C, G714C, G744C, G770C, G772C, G802C	Lynch syndrome 1	Likely pathogenic	no assertion criteria provided
Select item 244224820.	NC_000002.11:g.47470308_47807597del GRCh37: Chr2:47470308-47807597	BCYRN1, EPCAM, KCNK12, MSH2, MSH2-OT1		Lynch syndrome 1	Pathogenic (Jun 22, 2022)	no assertion criteria provided
Select item 220306521.	NM_000251.3(MSH2):c.1044G>C (p.Gln348His) GRCh37: Chr2:47643536 GRCh38: Chr2:47416397	MSH2	Q328H, Q337H, Q348H, Q49H, Q298H, Q208H, Q282H	Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1	Uncertain significance (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 202806722.	NM_000251.3(MSH2):c.267_268insCA (p.Lys90fs) GRCh37: Chr2:47635594-47635595 GRCh38: Chr2:47408455-47408456	MSH2	K90fs, K24fs	Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1	Pathogenic (Feb 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 180169123.	NM_000249.4(MLH1):c.879C>G (p.Tyr293Ter) GRCh37: Chr3:37059085 GRCh38: Chr3:37017594	MLH1	Y195, Y260, Y293, Y52	Lynch syndrome 1, Hereditary nonpolyposis colorectal carcinoma	Likely pathogenic (Oct 27, 2022)	criteria provided, single submitter
Select item 178050324.	NM_000251.3(MSH2):c.1807G>T (p.Asp603Tyr) GRCh37: Chr2:47702211 GRCh38: Chr2:47475072	MSH2	D304Y, D463Y, D537Y, D553Y, D151Y, D592Y, D583Y, D603Y, D616Y	Hereditary cancer-predisposing syndrome, Lynch syndrome 1	Likely pathogenic (Mar 21, 2023)	criteria provided, multiple submitters, no conflicts
Select item 176728825.	NM_000251.3(MSH2):c.952G>T (p.Glu318Ter) GRCh37: Chr2:47643444 GRCh38: Chr2:47416305	MSH2	E268, E19, E318, E178, E298, E307, E252*	Hereditary cancer-predisposing syndrome, Lynch syndrome 1	Pathogenic (Dec 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 175830826.	NM_000251.3(MSH2):c.731T>A (p.Leu244Ter) GRCh37: Chr2:47639638 GRCh38: Chr2:47412499	MSH2	L104, L244, L178, L224	Lynch syndrome 1, Hereditary cancer-predisposing syndrome	Pathogenic (Feb 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 172321527.	Single allele GRCh37: Chr7:5876369-6122058	AIMP2, CCZ1, EIF2AK1, OCM, PMS2, RSPH10B		Lynch syndrome 1	Pathogenic (Nov 8, 2022)	criteria provided, single submitter
Select item 170993428.	NM_000251.3(MSH2):c.1258_1259del (p.Ala420fs) GRCh37: Chr2:47657062-47657063 GRCh38: Chr2:47429923-47429924	MSH2	A354fs, A420fs	Lynch syndrome 1	Pathogenic (Oct 19, 2021)	criteria provided, single submitter
Select item 170988929.	NM_000251.3(MSH2):c.1138_1153dup (p.Pro385fs) GRCh37: Chr2:47656941-47656942 GRCh38: Chr2:47429802-47429803	MSH2	P319fs, P385fs	Lynch syndrome 1	Pathogenic (Sep 8, 2021)	criteria provided, single submitter
Select item 170952230.	NM_000251.3(MSH2):c.524del (p.Leu175fs) GRCh37: Chr2:47637390 GRCh38: Chr2:47410251	MSH2	L109fs, L175fs	Lynch syndrome 1	Likely pathogenic (Jun 3, 2022)	criteria provided, single submitter
Select item 170588831.	NM_000535.7(PMS2):c.989-107_989-106insA GRCh37: Chr7:6029692-6029693 GRCh38: Chr7:5990061-5990062	PMS2		Lynch syndrome 1	Uncertain significance	criteria provided, single submitter
Select item 170464532.	NM_000251.3(MSH2):c.1164_1165delinsGT (p.Asn388_Arg389delinsLysTer) GRCh37: Chr2:47656968-47656969 GRCh38: Chr2:47429829-47429830	MSH2		Lynch syndrome 1	Pathogenic	no assertion criteria provided
Select item 170463933.	NM_007194.4(CHEK2):c.1189del (p.Val397fs) GRCh37: Chr22:29091768 GRCh38: Chr22:28695780	CHEK2	V176fs, V330fs, V440fs, V397fs, V368fs	Lynch syndrome 1	Likely pathogenic	no assertion criteria provided
Select item 170351834.	NM_000249.4(MLH1):c.92C>A (p.Ala31Asp) GRCh37: Chr3:37035130 GRCh38: Chr3:36993639	MLH1	A31D	Hereditary cancer-predisposing syndrome	Uncertain significance (Sep 9, 2020)	criteria provided, single submitter
Select item 169998935.	NM_002354.3(EPCAM):c.904-1_904del GRCh37: Chr2:47613709-47613710 GRCh38: Chr2:47386570-47386571	EPCAM		Lynch syndrome 1	Likely pathogenic (Jun 3, 2022)	no assertion criteria provided
Select item 169682436.	NM_000051.4(ATM):c.201T>G (p.Tyr67Ter) GRCh37: Chr11:108099920 GRCh38: Chr11:108229193	ATM	Y67*	Lynch syndrome 1	Likely pathogenic (Jul 14, 2022)	criteria provided, single submitter
Select item 169682137.	NM_024675.4(PALB2):c.3314_3315del (p.Val1105fs) GRCh37: Chr16:23619220-23619221 GRCh38: Chr16:23607899-23607900	PALB2	V1105fs	Lynch syndrome 1	Likely pathogenic (Nov 16, 2021)	criteria provided, single submitter
Select item 169229738.	NM_000251.3(MSH2):c.704A>C (p.Lys235Thr) GRCh37: Chr2:47639611 GRCh38: Chr2:47412472	MSH2	K169T, K235T	Hereditary cancer-predisposing syndrome, Lynch syndrome 1	Uncertain significance (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 169125739.	NM_000251.3(MSH2):c.1428del (p.Asn477fs) GRCh37: Chr2:47690211 GRCh38: Chr2:47463072	MSH2	N411fs, N477fs	Lynch syndrome 1	Pathogenic (Jun 9, 2022)	criteria provided, single submitter
Select item 168595540.	NM_000251.3(MSH2):c.2287G>C (p.Ala763Pro) GRCh37: Chr2:47705487 GRCh38: Chr2:47478348	MSH2	A697P, A763P	Lynch syndrome 1	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168595441.	NM_000251.3(MSH2):c.1511-1G>T GRCh37: Chr2:47693796 GRCh38: Chr2:47466657	MSH2		Hereditary cancer-predisposing syndrome, Lynch syndrome 1	Pathogenic/Likely pathogenic (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 168377442.	NM_000251.3(MSH2):c.2181dup (p.Glu728Ter) GRCh37: Chr2:47703680-47703681 GRCh38: Chr2:47476541-47476542	MSH2	E662, E728	Lynch syndrome 1	Likely pathogenic (Jul 13, 2021)	criteria provided, single submitter
Select item 150333543.	NM_000251.3(MSH2):c.114C>A (p.Asp38Glu) GRCh37: Chr2:47630444 GRCh38: Chr2:47403305	MSH2	D38E	Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1	Conflicting interpretations of pathogenicity (May 5, 2023)	criteria provided, conflicting interpretations
Select item 149000144.	NM_000251.3(MSH2):c.943G>T (p.Gly315Cys) GRCh37: Chr2:47643435 GRCh38: Chr2:47416296	MSH2	G249C, G315C	Mismatch repair cancer syndrome 2, Lynch syndrome 1, Muir-Torré syndrome, Hereditary nonpolyposis colorectal neoplasms	Uncertain significance (Mar 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 145372045.	NM_000251.3(MSH2):c.1283_1284del (p.His428fs) GRCh37: Chr2:47672691-47672692 GRCh38: Chr2:47445552-47445553	MSH2	H362fs, H428fs	Hereditary nonpolyposis colorectal neoplasms	Pathogenic (Jul 11, 2021)	criteria provided, single submitter
Select item 143692746.	NM_000251.3(MSH2):c.1061A>G (p.Asn354Ser) GRCh37: Chr2:47643553 GRCh38: Chr2:47416414	MSH2	N288S, N354S	Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1, Hereditary cancer-predisposing syndrome	Uncertain significance (Aug 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143361947.	NM_000251.3(MSH2):c.920_923del (p.Val307fs) GRCh37: Chr2:47641532-47641535 GRCh38: Chr2:47414393-47414396	MSH2	V241fs, V307fs	Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1	Pathogenic (Jan 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 134710148.	NM_000179.3(MSH6):c.3801+2T>G GRCh37: Chr2:48033499 GRCh38: Chr2:47806360	MSH6		Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1	Likely pathogenic (Jul 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 134489749.	NM_000249.4(MLH1):c.55_63delinsT (p.Ile19fs) GRCh37: Chr3:37035093-37035101 GRCh38: Chr3:36993602-36993610	MLH1	I19fs	Lynch syndrome 1	Pathogenic	criteria provided, single submitter
Select item 133915050.	NM_000251.3(MSH2):c.149C>T (p.Ala50Val) GRCh37: Chr2:47630479 GRCh38: Chr2:47403340	MSH2	A50V	Lynch syndrome 1, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms	Conflicting interpretations of pathogenicity (Sep 13, 2022)	criteria provided, conflicting interpretations
Select item 133289051.	NM_000251.3(MSH2):c.2185_2192delinsCCCT (p.Met729fs) GRCh37: Chr2:47703685-47703692 GRCh38: Chr2:47476546-47476553	MSH2	M663fs, M729fs	Lynch syndrome 1	not provided	no assertion provided
Select item 133288952.	NM_000249.4(MLH1):c.1731+2247_1897-402del GRCh37: Chr3:37086066-37089603 GRCh38: Chr3:37044575-37048112	MLH1		Colorectal cancer, hereditary nonpolyposis, type 2	Pathogenic (Dec 1, 1996)	no assertion criteria provided
Select item 133288853.	NM_002354.2(EPCAM):c.859-1430_*2033del GRCh37: Chr2:47610875-47615785 GRCh38: Chr2:47383736-47388646	EPCAM		Lynch syndrome 1	not provided	no assertion provided
Select item 132749554.	NM_000251.3(MSH2):c.2458+976A>G GRCh37: Chr2:47706634 GRCh38: Chr2:47479495	MSH2		Hereditary cancer-predisposing syndrome	Likely pathogenic (Apr 6, 2022)	criteria provided, single submitter
Select item 129933755.	NM_000251.3:c.(1662+1_1663-1)_(2805+1_?)del	MSH2		Lynch syndrome 1	Pathogenic (Sep 30, 2021)	criteria provided, single submitter
Select item 120745356.	NM_000251.3(MSH2):c.478_479del (p.Gln160fs) GRCh37: Chr2:47637343-47637344 GRCh38: Chr2:47410204-47410205	MSH2	Q160fs, Q94fs	not provided, Lynch syndrome 1	Pathogenic (Jan 6, 2023)	criteria provided, multiple submitters, no conflicts
Select item 106462657.	NM_000179.3(MSH6):c.3556+5_3556+8delinsCATTATTGTCAGG GRCh37: Chr2:48032171-48032174 GRCh38: Chr2:47805032-47805035	MSH6		Lynch syndrome 1, Hereditary cancer-predisposing syndrome	Uncertain significance (Feb 14, 2020)	criteria provided, multiple submitters, no conflicts
Select item 101220758.	NM_000251.3(MSH2):c.1763_1764del (p.Tyr588fs) GRCh37: Chr2:47702166-47702167 GRCh38: Chr2:47475027-47475028	MSH2	Y522fs, Y588fs	Lynch syndrome 1	Likely pathogenic (Apr 2, 2020)	criteria provided, single submitter
Select item 101220659.	NM_000249.4(MLH1):c.1003del (p.Leu335fs) GRCh37: Chr3:37061918 GRCh38: Chr3:37020427	MLH1	L237fs, L302fs, L335fs, L94fs	Lynch syndrome 1, Hereditary cancer-predisposing syndrome	Pathogenic (Apr 2, 2020)	criteria provided, multiple submitters, no conflicts
Select item 101216960.	NM_000251.3(MSH2):c.1899A>T (p.Ile633=) GRCh37: Chr2:47702303 GRCh38: Chr2:47475164	MSH2		Lynch syndrome 1, Hereditary cancer-predisposing syndrome	Conflicting interpretations of pathogenicity (Mar 26, 2023)	criteria provided, conflicting interpretations
Select item 99627561.	NM_000251.3(MSH2):c.1741del (p.Ile581fs) GRCh37: Chr2:47698181 GRCh38: Chr2:47471042	MSH2	I515fs, I581fs	Lynch syndrome 1, Hereditary nonpolyposis colon cancer, Hereditary cancer-predisposing syndrome	Pathogenic/Likely pathogenic (Feb 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 98305362.	NM_000251.3(MSH2):c.2444A>G (p.Tyr815Cys) GRCh37: Chr2:47705644 GRCh38: Chr2:47478505	MSH2	Y749C, Y815C	Hereditary nonpolyposis colorectal neoplasms, not provided, Lynch syndrome 1	Uncertain significance (Jul 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97732663.	NM_000249.4(MLH1):c.978GCA[2] (p.Gln328del) GRCh37: Chr3:37061894-37061896 GRCh38: Chr3:37020403-37020405	MLH1	Q230del, Q295del, Q328del, Q87del	Lynch syndrome 1	Likely pathogenic (Mar 29, 2020)	criteria provided, single submitter
Select item 97642564.	NM_000251.3(MSH2):c.2367del (p.Leu790fs) GRCh37: Chr2:47705566 GRCh38: Chr2:47478427	MSH2	L724fs, L790fs	Hereditary cancer-predisposing syndrome, Lynch syndrome 1	Pathogenic/Likely pathogenic (Jul 6, 2021)	criteria provided, multiple submitters, no conflicts
Select item 97340265.	NM_000251.3(MSH2):c.337A>T (p.Lys113Ter) GRCh37: Chr2:47635665 GRCh38: Chr2:47408526	MSH2	K113, K47	Lynch syndrome 1	Pathogenic (Sep 23, 2021)	criteria provided, single submitter
Select item 96162166.	NM_000251.3(MSH2):c.1277-1G>T GRCh37: Chr2:47672686 GRCh38: Chr2:47445547	MSH2		Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms	Pathogenic/Likely pathogenic (Jan 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 95790667.	NM_000251.3(MSH2):c.1993del (p.His665fs) GRCh37: Chr2:47702396 GRCh38: Chr2:47475257	MSH2	H665fs, H599fs	Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms	Pathogenic (Jan 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93094868.	NM_000534.5(PMS1):c.440G>A (p.Arg147Lys) GRCh37: Chr2:190682764 GRCh38: Chr2:189818038	PMS1	R86K, R147K	Lynch syndrome 1	Uncertain significance (Mar 27, 2020)	criteria provided, single submitter
Select item 92107269.	NM_000251.3(MSH2):c.174dup (p.Lys59fs) GRCh37: Chr2:47630503-47630504 GRCh38: Chr2:47403364-47403365	MSH2	K59fs	Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome 1	Pathogenic (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89667070.	NM_000251.3(MSH2):c.2005+3A>G GRCh37: Chr2:47702412 GRCh38: Chr2:47475273	MSH2		Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1	Uncertain significance (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89659871.	NM_000251.3(MSH2):c.638T>G (p.Leu213Arg) GRCh37: Chr2:47637504 GRCh38: Chr2:47410365	MSH2	L147R, L213R	Lynch syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89530672.	NM_000251.3(MSH2):c.*64T>C GRCh37: Chr2:47710152 GRCh38: Chr2:47483013	MSH2		Lynch syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89530573.	NM_000251.3(MSH2):c.*47G>A GRCh37: Chr2:47710135 GRCh38: Chr2:47482996	MSH2		Lynch syndrome 1, not specified	Conflicting interpretations of pathogenicity (Aug 15, 2023)	criteria provided, conflicting interpretations
Select item 89518174.	NM_000251.3(MSH2):c.562G>A (p.Glu188Lys) GRCh37: Chr2:47637428 GRCh38: Chr2:47410289	MSH2	E122K, E188K	Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1	Uncertain significance (Dec 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 87342775.	NM_000251.3(MSH2):c.2635-24A>G GRCh37: Chr2:47709894 GRCh38: Chr2:47482755	MSH2		Hereditary cancer-predisposing syndrome, Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms	Pathogenic/Likely pathogenic (Jun 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 87308576.	NM_000249.3:c.(306+1_307-1)_(790+1_791-1)del	MLH1		Lynch syndrome 1	Likely pathogenic	no assertion criteria provided
Select item 87308477.	NM_000249.3:c.(1896+1_1897-1)_*193del	MLH1		Lynch syndrome 1	Pathogenic	no assertion criteria provided
Select item 87308378.	NM_000249.3:c.(1409+1_1410-1)_(1558+1_1559-1)del	MLH1		Lynch syndrome 1	Pathogenic	no assertion criteria provided
Select item 87305179.	NM_000249.4(MLH1):c.1926dup (p.Ile643fs) GRCh37: Chr3:37090036-37090037 GRCh38: Chr3:37048545-37048546	MLH1	I285fs, I402fs, I588fs, I545fs, I302fs, I643fs, I610fs	Lynch syndrome 1	Likely pathogenic	no assertion criteria provided
Select item 87305080.	NM_000249.4(MLH1):c.2041del (p.Ala681fs) GRCh37: Chr3:37090446 GRCh38: Chr3:37048955	MLH1	A583fs, A650fs, A323fs, A440fs, A340fs, A626fs, A648fs, A681fs	Lynch syndrome 1	Likely pathogenic	no assertion criteria provided
Select item 87304981.	NM_000249.4(MLH1):c.885-2A>C GRCh37: Chr3:37061799 GRCh38: Chr3:37020308	MLH1		Lynch syndrome 1	Likely pathogenic	no assertion criteria provided
Select item 87304882.	NM_000249.4(MLH1):c.2080G>T (p.Glu694Ter) GRCh37: Chr3:37090485 GRCh38: Chr3:37048994	MLH1	E453, E596, E661, E694, E639, E336, E353, E663	Hereditary cancer-predisposing syndrome, not provided	Pathogenic (Apr 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 87304783.	NM_000249.4(MLH1):c.1139_1149del (p.Ala380fs) GRCh37: Chr3:37067225-37067235 GRCh38: Chr3:37025734-37025744	MLH1	A282fs, A39fs, A139fs, A22fs, A347fs, A380fs	Lynch syndrome 1	Likely pathogenic	no assertion criteria provided
Select item 87304684.	NM_000249.4(MLH1):c.1616_1619del (p.Ala539fs) GRCh37: Chr3:37081734-37081737 GRCh38: Chr3:37040243-37040246	MLH1	A506fs, A181fs, A198fs, A298fs, A539fs, A441fs	Lynch syndrome 1	Likely pathogenic	no assertion criteria provided
Select item 87304585.	NM_000249.4(MLH1):c.1612del (p.Trp538fs) GRCh37: Chr3:37081730 GRCh38: Chr3:37040239	MLH1	W440fs, W197fs, W505fs, W180fs, W297fs, W538fs	Lynch syndrome 1	Likely pathogenic	no assertion criteria provided
Select item 87304486.	NM_002354.3(EPCAM):c.730C>G (p.Pro244Ala) GRCh37: Chr2:47606980 GRCh38: Chr2:47379841	EPCAM	P244A	Lynch syndrome 1	Uncertain significance	no assertion criteria provided
Select item 87304387.	NM_000249.4(MLH1):c.473del (p.Asn158fs) GRCh37: Chr3:37050323 GRCh38: Chr3:37008832	MLH1	N60fs, N125fs, N158fs	Hereditary cancer-predisposing syndrome	Pathogenic (Jun 13, 2022)	criteria provided, single submitter
Select item 87304288.	NM_002354.3(EPCAM):c.903+5A>G GRCh37: Chr2:47612354 GRCh38: Chr2:47385215	EPCAM		Lynch syndrome 1	Uncertain significance	no assertion criteria provided
Select item 87304189.	NM_000251.3(MSH2):c.1076+8A>T GRCh37: Chr2:47643576 GRCh38: Chr2:47416437	MSH2		Lynch syndrome 1	Uncertain significance	no assertion criteria provided
Select item 87304090.	NM_000249.4(MLH1):c.1990-3_2001del GRCh37: Chr3:37090388-37090402 GRCh38: Chr3:37048897-37048911	MLH1		Lynch syndrome 1	Likely pathogenic	no assertion criteria provided
Select item 87303991.	NM_000179.3(MSH6):c.1503T>G (p.His501Gln) GRCh37: Chr2:48026625 GRCh38: Chr2:47799486	MSH6	H371Q, H501Q, H199Q	Lynch syndrome 1	Uncertain significance	no assertion criteria provided
Select item 87303892.	NM_000249.4(MLH1):c.345_349del (p.Thr116fs) GRCh37: Chr3:37045930-37045934 GRCh38: Chr3:37004439-37004443	MLH1	T18fs, T116fs, T83fs	Lynch syndrome 1	Likely pathogenic (May 1, 2018)	no assertion criteria provided
Select item 86455293.	NM_000249.4(MLH1):c.4T>G (p.Ser2Ala) GRCh37: Chr3:37035042 GRCh38: Chr3:36993551	MLH1	S2A	Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome	Uncertain significance (Jul 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85667094.	NM_000251.3(MSH2):c.1688A>G (p.Tyr563Cys) GRCh37: Chr2:47698130 GRCh38: Chr2:47470991	MSH2	Y497C, Y563C	Hereditary nonpolyposis colorectal neoplasms, Muir-Torré syndrome, Lynch syndrome 1, Mismatch repair cancer syndrome 2, Hereditary cancer-predisposing syndrome	Conflicting interpretations of pathogenicity (Aug 10, 2022)	criteria provided, conflicting interpretations
Select item 84472695.	NM_000251.3(MSH2):c.2352del (p.His785fs) GRCh37: Chr2:47705549 GRCh38: Chr2:47478410	MSH2	H719fs, H785fs	Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome 1	Pathogenic (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 82177096.	NM_000251.3(MSH2):c.2756ATA[1] (p.Asn920del) GRCh37: Chr2:47710038-47710040 GRCh38: Chr2:47482899-47482901	MSH2	N854del, N920del	Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome	Uncertain significance (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 82060097.	NM_000251.3(MSH2):c.2065G>A (p.Ala689Thr) GRCh37: Chr2:47703565 GRCh38: Chr2:47476426	MSH2	A623T, A689T	Hereditary cancer-predisposing syndrome, Mismatch repair cancer syndrome 2, Lynch syndrome 1, Muir-Torré syndrome, Hereditary nonpolyposis colorectal neoplasms	Conflicting interpretations of pathogenicity (Mar 20, 2023)	criteria provided, conflicting interpretations
Select item 81865298.	NM_000249.4(MLH1):c.1230_1232delinsTG (p.Ile411fs) GRCh37: Chr3:37067319-37067321 GRCh38: Chr3:37025828-37025830	MLH1	I378fs, I411fs, I53fs, I313fs, I70fs, I170fs	Hereditary cancer-predisposing syndrome	Pathogenic (Apr 11, 2019)	criteria provided, single submitter
Select item 80169599.	NM_022055.2(KCNK12):c.*8388G>T GRCh37: Chr2:47739658 GRCh38: Chr2:47512519	KCNK12, MSH2		Lynch syndrome 1	Likely benign (May 28, 2019)	criteria provided, single submitter
Select item 801694100.	NM_022055.2(KCNK12):c.*8525G>C GRCh37: Chr2:47739521 GRCh38: Chr2:47512382	KCNK12, MSH2		Lynch syndrome 1	Uncertain significance (May 28, 2019)	criteria provided, single submitter

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