PMS2[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogenic[ - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 913871.	NM_000535.5(PMS2):c.989-?_(*160_?)del GRCh37: Chr7:6012870-6029586 GRCh38: Chr7:5973239-5989955	PMS2		Lynch syndrome	Pathogenic (Sep 5, 2013)	reviewed by expert panel
Select item 913782.	NM_000535.5(PMS2):c.904-?_(*160_?)del GRCh37: Chr7:6012870-6031688 GRCh38: Chr7:5973239-5992057	PMS2		Lynch syndrome	Pathogenic (Sep 5, 2013)	reviewed by expert panel
Select item 913533.	NM_000535.5(PMS2):c.354-?_(*160_?)del GRCh37: Chr7:6012870-6042267 GRCh38: Chr7:5973239-6002636	PMS2		Lynch syndrome	Pathogenic (Sep 5, 2013)	reviewed by expert panel
Select item 6541124.	NC_000007.14:g.(?_5973389)_(5973552_?)del GRCh37: Chr7:6013020-6013183 GRCh38: Chr7:5973389-5973552	PMS2		Hereditary nonpolyposis colorectal neoplasms	Pathogenic (Jan 11, 2019)	criteria provided, single submitter
Select item 6489325.	NM_000535.5(PMS2):c.904-10_*10del GRCh38: Chr7:5973389-5992067	PMS2		Hereditary nonpolyposis colorectal neoplasms	Pathogenic (Jan 3, 2019)	criteria provided, single submitter
Select item 5835166.	NC_000007.14:g.(?_5973389)_(5983001_?)del GRCh37: Chr7:6013020-6022632 GRCh38: Chr7:5973389-5983001	PMS2		Hereditary nonpolyposis colorectal neoplasms	Pathogenic (Jun 26, 2019)	criteria provided, single submitter
Select item 4550867.	NC_000007.14:g.(?_5973393)_(5982997_?)del GRCh37: Chr7:6013024-6022628 GRCh38: Chr7:5973393-5982997	PMS2		Hereditary nonpolyposis colorectal neoplasms	Pathogenic (Sep 17, 2018)	criteria provided, single submitter
Select item 4550858.	NC_000007.14:g.(?_5973393)_(5973548_?)del GRCh37: Chr7:6013024-6013179 GRCh38: Chr7:5973393-5973548	PMS2		Hereditary nonpolyposis colorectal neoplasms	Pathogenic (Jul 10, 2017)	criteria provided, single submitter
Select item 10501179.	NM_000535.7(PMS2):c.2445+1601_*3del GRCh37: Chr7:6013027-6015618 GRCh38: Chr7:5973396-5975987	PMS2		not provided	Pathogenic	no assertion criteria provided
Select item 104946610.	NM_000535.7(PMS2):c.2446-170_*3del GRCh37: Chr7:6013027-6013343 GRCh38: Chr7:5973396-5973712	PMS2		Endometrial carcinoma	Pathogenic	no assertion criteria provided
Select item 105052711.	NM_000535.7(PMS2):c.2446-440_*2del GRCh37: Chr7:6013028-6013613 GRCh38: Chr7:5973397-5973982	PMS2		not provided	Pathogenic	no assertion criteria provided
Select item 104976212.	NM_000535.7(PMS2):c.2445+1763_*2del GRCh37: Chr7:6013028-6015456 GRCh38: Chr7:5973397-5975825	PMS2		Endometrial carcinoma	Pathogenic	no assertion criteria provided
Select item 43403113.	NM_000535.7(PMS2):c.2446_2589del (p.Val816_Ter863del) GRCh37: Chr7:6013030-6013173 GRCh38: Chr7:5973399-5973542	PMS2		not provided	Pathogenic	no assertion criteria provided
Select item 179301114.	NM_000535.7(PMS2):c.2556_2557del (p.Ile853fs) GRCh37: Chr7:6013062-6013063 GRCh38: Chr7:5973431-5973432	PMS2	I747fs, I750fs, I864fs, I729fs, I662fs, I666fs, I718fs, I801fs, I853fs, I542fs	Hereditary cancer-predisposing syndrome	Likely pathogenic (Oct 22, 2020)	criteria provided, single submitter
Select item 179300615.	NM_000535.7(PMS2):c.2555del (p.His852fs) GRCh37: Chr7:6013064 GRCh38: Chr7:5973433	PMS2	H665fs, H852fs, H661fs, H717fs, H746fs, H749fs, H800fs, H728fs, H863fs, H541fs	Hereditary cancer-predisposing syndrome	Likely pathogenic (Apr 26, 2022)	criteria provided, single submitter
Select item 82141216.	NM_000535.7(PMS2):c.2536G>T (p.Gly846Ter) GRCh37: Chr7:6013083 GRCh38: Chr7:5973452	PMS2	G655, G711, G722, G740, G743, G535, G659, G794, G846, G857	Hereditary cancer-predisposing syndrome	Pathogenic (Apr 11, 2022)	criteria provided, single submitter
Select item 179273817.	NM_000535.7(PMS2):c.2534del (p.His845fs) GRCh37: Chr7:6013085 GRCh38: Chr7:5973454	PMS2	H658fs, H710fs, H845fs, H739fs, H856fs, H654fs, H793fs, H534fs, H721fs, H742fs	Hereditary cancer-predisposing syndrome	Pathogenic (Jan 26, 2022)	criteria provided, single submitter
Select item 42357118.	NM_000535.7(PMS2):c.2533del (p.His845fs) GRCh37: Chr7:6013086 GRCh38: Chr7:5973455	PMS2	H658fs, H856fs, H721fs, H739fs, H845fs, H742fs, H793fs, H534fs, H654fs, H710fs	Hereditary cancer-predisposing syndrome, not provided, Lynch syndrome	Pathogenic/Likely pathogenic (Feb 28, 2019)	criteria provided, multiple submitters, no conflicts
Select item 14287719.	NM_000535.7(PMS2):c.2531C>A (p.Pro844His) GRCh37: Chr7:6013088 GRCh38: Chr7:5973457	PMS2	P844H, P657H, P738H, P792H, P533H, P653H, P709H, P720H, P741H, P855H	Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome	Likely pathogenic (Sep 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 23475920.	NM_000535.7(PMS2):c.2522G>A (p.Trp841Ter) GRCh37: Chr7:6013097 GRCh38: Chr7:5973466	PMS2	W841, W735, W650, W717, W789, W530, W654, W706, W738, W852	Hereditary cancer-predisposing syndrome, not provided, Hereditary nonpolyposis colorectal neoplasms	Pathogenic/Likely pathogenic (Aug 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 145438921.	NM_000535.7(PMS2):c.2515_2517delinsAGTT (p.His839fs) GRCh37: Chr7:6013102-6013104 GRCh38: Chr7:5973471-5973473	PMS2	H648fs, H704fs, H715fs, H733fs, H736fs, H787fs, H839fs, H652fs, H850fs, H528fs	Hereditary nonpolyposis colorectal neoplasms	Pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 104980922.	NM_000535.7(PMS2):c.2506del (p.Glu836fs) GRCh37: Chr7:6013113 GRCh38: Chr7:5973482	PMS2	E525fs, E645fs, E649fs, E701fs, E712fs, E730fs, E733fs, E784fs, E836fs, E847fs	Hereditary cancer-predisposing syndrome	Pathogenic (Feb 12, 2019)	criteria provided, single submitter
Select item 18371823.	NM_000535.7(PMS2):c.2506G>T (p.Glu836Ter) GRCh37: Chr7:6013113 GRCh38: Chr7:5973482	PMS2	E836, E525, E712, E649, E730, E701, E733, E784, E847, E645	Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, not provided	Pathogenic/Likely pathogenic (Jul 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 23448224.	NM_000535.7(PMS2):c.2500_2501del (p.Met834fs) GRCh37: Chr7:6013118-6013119 GRCh38: Chr7:5973487-5973488	PMS2	M710fs, M834fs, M643fs, M699fs, M845fs, M523fs, M647fs, M731fs, M728fs, M782fs	not provided	Likely pathogenic (Dec 4, 2015)	criteria provided, single submitter
Select item 14128025.	NM_000535.7(PMS2):c.2500_2501delinsG (p.Met834fs) GRCh37: Chr7:6013118-6013119 GRCh38: Chr7:5973487-5973488	PMS2	M710fs, M782fs, M845fs, M523fs, M643fs, M647fs, M728fs, M834fs, M731fs, M699fs	Hereditary nonpolyposis colon cancer, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not provided	Pathogenic (Nov 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 104980126.	NM_000535.7(PMS2):c.2492_2493del (p.Ile831fs) GRCh37: Chr7:6013126-6013127 GRCh38: Chr7:5973495-5973496	PMS2	I520fs, I640fs, I644fs, I696fs, I707fs, I725fs, I728fs, I779fs, I831fs, I842fs	not provided	Pathogenic	no assertion criteria provided
Select item 179184127.	NM_000535.7(PMS2):c.2476G>T (p.Glu826Ter) GRCh37: Chr7:6013143 GRCh38: Chr7:5973512	PMS2	E425, E664, E671, E704, E714, E720, E734, E774, E888, E515, E569, E635, E668, E691, E702, E760, E785, E826, E834, E718, E770, E778, E790, E587, E639, E655, E723, E731, E837*	Hereditary cancer-predisposing syndrome	Pathogenic (Jul 18, 2018)	criteria provided, single submitter
Select item 139365828.	NM_000535.7(PMS2):c.2469_2473del (p.Asn823fs) GRCh37: Chr7:6013146-6013150 GRCh38: Chr7:5973515-5973519	PMS2	N632fs, N699fs, N720fs, N688fs, N823fs, N512fs, N636fs, N717fs, N771fs, N834fs	Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms	Pathogenic (Sep 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 82134229.	NM_000535.7(PMS2):c.2471del (p.Thr824fs) GRCh37: Chr7:6013148 GRCh38: Chr7:5973517	PMS2	T689fs, T721fs, T772fs, T633fs, T637fs, T700fs, T835fs, T513fs, T718fs, T824fs	Hereditary cancer-predisposing syndrome	Pathogenic (Feb 6, 2018)	criteria provided, single submitter
Select item 43403230.	NM_000535.7(PMS2):c.2458dup (p.Thr820fs) GRCh37: Chr7:6013160-6013161 GRCh38: Chr7:5973529-5973530	PMS2	T696fs, T685fs, T820fs, T509fs, T629fs, T714fs, T768fs, T831fs, T633fs, T717fs	Lynch syndrome	Pathogenic	criteria provided, single submitter
Select item 179143231.	NM_000535.7(PMS2):c.2449_2452del (p.Met817fs) GRCh37: Chr7:6013167-6013170 GRCh38: Chr7:5973536-5973539	PMS2	M506fs, M682fs, M711fs, M817fs, M630fs, M765fs, M828fs, M626fs, M693fs, M714fs	Hereditary cancer-predisposing syndrome	Pathogenic (Oct 30, 2018)	criteria provided, single submitter
Select item 82129232.	NM_000535.7(PMS2):c.2446-1G>A GRCh37: Chr7:6013174 GRCh38: Chr7:5973543	PMS2		Hereditary cancer-predisposing syndrome, not provided	Pathogenic/Likely pathogenic (Jun 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 23245933.	NM_000535.7(PMS2):c.2446-1G>T GRCh37: Chr7:6013174 GRCh38: Chr7:5973543	PMS2		Hereditary cancer-predisposing syndrome	Likely pathogenic (Jul 13, 2018)	criteria provided, single submitter
Select item 26566134.	NM_000535.7(PMS2):c.2446-2A>G GRCh37: Chr7:6013175 GRCh38: Chr7:5973544	PMS2		Hereditary cancer-predisposing syndrome, not provided	Likely pathogenic (Nov 6, 2018)	criteria provided, multiple submitters, no conflicts
Select item 9133535.	NM_000535.7(PMS2):c.2276-113_2445+1596del GRCh37: Chr7:6015623-6017501 GRCh38: Chr7:5975992-5977870	PMS2		Lynch syndrome	Pathogenic (Sep 5, 2013)	reviewed by expert panel
Select item 9133636.	NM_000535.7(PMS2):c.2276-91_2445+790del GRCh37: Chr7:6016429-6017479 GRCh38: Chr7:5976798-5977848	PMS2		Lynch syndrome	Pathogenic (Sep 5, 2013)	reviewed by expert panel
Select item 57955637.	NM_000535.7(PMS2):c.2357_2445+510del GRCh37: Chr7:6016709-6017307 GRCh38: Chr7:5977078-5977676	PMS2		Hereditary nonpolyposis colorectal neoplasms	Pathogenic (Mar 20, 2018)	criteria provided, single submitter
Select item 58434138.	NC_000007.14:g.(?_5977578)_(5983001_?)del GRCh37: Chr7:6017209-6022632 GRCh38: Chr7:5977578-5983001	PMS2		Hereditary nonpolyposis colorectal neoplasms	Pathogenic (Jan 13, 2022)	criteria provided, single submitter
Select item 58404139.	NC_000007.14:g.(?_5977578)_(5977767_?)del GRCh37: Chr7:6017209-6017398 GRCh38: Chr7:5977578-5977767	PMS2		Hereditary nonpolyposis colorectal neoplasms	Pathogenic (Nov 26, 2021)	criteria provided, single submitter
Select item 45509040.	NC_000007.14:g.(?_5977582)_(5982997_?)del GRCh38: Chr7:5977582-5982997	PMS2		Hereditary nonpolyposis colorectal neoplasms	Pathogenic (Mar 20, 2018)	criteria provided, single submitter
Select item 45508841.	NC_000007.14:g.(?_5977582)_(5977763_?)del GRCh37: Chr7:6017213-6017394 GRCh38: Chr7:5977582-5977763	PMS2		Hereditary nonpolyposis colorectal neoplasms	Pathogenic (Apr 23, 2018)	criteria provided, single submitter
Select item 51737242.	NM_000535.5(PMS2):c.(?_989-5)_(2445+5_?)del GRCh37: Chr7:6017214-6029591 GRCh38: Chr7:5977583-5989960	PMS2		Lynch syndrome	Pathogenic (Jun 13, 2017)	criteria provided, single submitter
Select item 105032943.	NM_000535.7(PMS2):c.2175-1335_2445+4del GRCh37: Chr7:6017215-6019662 GRCh38: Chr7:5977584-5980031	PMS2		Endometrial carcinoma	Pathogenic	no assertion criteria provided
Select item 104924644.	NM_000535.7(PMS2):c.2276-1_2445+2del GRCh37: Chr7:6017217-6017389 GRCh38: Chr7:5977586-5977758	PMS2		Malignant tumor of breast	Pathogenic	no assertion criteria provided
Select item 48430745.	NM_000535.7(PMS2):c.2445+1G>A GRCh37: Chr7:6017218 GRCh38: Chr7:5977587	PMS2		Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome	Pathogenic/Likely pathogenic (Feb 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 23790846.	NM_000535.7(PMS2):c.2445+1G>C GRCh37: Chr7:6017218 GRCh38: Chr7:5977587	PMS2		Hereditary cancer-predisposing syndrome, Lynch syndrome, not provided, Hereditary nonpolyposis colon cancer	Pathogenic/Likely pathogenic (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 23460447.	NM_000535.7(PMS2):c.2445+1G>T GRCh37: Chr7:6017218 GRCh38: Chr7:5977587	PMS2		Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome 4, Mismatch repair cancer syndrome 4, Hereditary nonpolyposis colon cancer, not specified, not provided, Lynch syndrome 4	Pathogenic/Likely pathogenic (Nov 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 119221148.	NM_000535.7(PMS2):c.2444_2445insTT (p.Val816fs) GRCh37: Chr7:6017219-6017220 GRCh38: Chr7:5977588-5977589	PMS2	V505fs, V625fs, V629fs, V681fs, V692fs, V710fs, V713fs, V764fs, V816fs, V827fs	Hereditary nonpolyposis colon cancer	Likely pathogenic (Jul 26, 2021)	criteria provided, single submitter
Select item 26734449.	NM_000535.6(PMS2):c.2276-?_2445+?del GRCh37: Chr7:6017219-6017388 GRCh38: Chr7:5977588-5977757	PMS2		Lynch syndrome	Pathogenic (Jan 12, 2016)	criteria provided, single submitter
Select item 169116750.	NM_000535.7(PMS2):c.2444C>A (p.Ser815Ter) GRCh37: Chr7:6017220 GRCh38: Chr7:5977589	PMS2	S504, S624, S628, S680, S691, S709, S712, S763, S815, S826	not provided	Likely pathogenic (Jun 1, 2022)	criteria provided, single submitter
Select item 9134351.	NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu) GRCh37: Chr7:6017220 GRCh38: Chr7:5977589	PMS2	S815L, S709L, S763L, S504L, S628L, S680L, S691L, S712L, S624L, S826L	Lynch syndrome	Likely pathogenic (Oct 18, 2018)	reviewed by expert panel
Select item 179125052.	NM_000535.7(PMS2):c.2438_2442del (p.Arg813fs) GRCh37: Chr7:6017222-6017226 GRCh38: Chr7:5977591-5977595	PMS2	R622fs, R689fs, R761fs, R502fs, R626fs, R678fs, R710fs, R824fs, R707fs, R813fs	Hereditary cancer-predisposing syndrome	Likely pathogenic (Sep 19, 2019)	criteria provided, single submitter
Select item 179127253.	NM_000535.7(PMS2):c.2439del (p.Lys814fs) GRCh37: Chr7:6017225 GRCh38: Chr7:5977594	PMS2	K711fs, K825fs, K814fs, K503fs, K690fs, K708fs, K762fs, K623fs, K627fs, K679fs	Hereditary cancer-predisposing syndrome	Pathogenic (Oct 7, 2019)	criteria provided, single submitter
Select item 179120154.	NM_000535.7(PMS2):c.2434_2437del (p.Cys812fs) GRCh37: Chr7:6017227-6017230 GRCh38: Chr7:5977596-5977599	PMS2	C677fs, C688fs, C709fs, C625fs, C706fs, C812fs, C823fs, C501fs, C621fs, C760fs	Hereditary cancer-predisposing syndrome	Pathogenic (Aug 20, 2018)	criteria provided, single submitter
Select item 48692455.	NM_000535.7(PMS2):c.2413C>T (p.Gln805Ter) GRCh37: Chr7:6017251 GRCh38: Chr7:5977620	PMS2	Q805, Q614, Q699, Q816, Q618, Q681, Q702, Q494, Q670, Q753	Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 4	Pathogenic (May 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105013656.	NM_000535.7(PMS2):c.2410A>T (p.Lys804Ter) GRCh37: Chr7:6017254 GRCh38: Chr7:5977623	PMS2	K493, K613, K617, K669, K680, K698, K701, K752, K804, K815	Malignant tumor of breast	Likely pathogenic	no assertion criteria provided
Select item 923757.	NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter) GRCh37: Chr7:6017260 GRCh38: Chr7:5977629	PMS2	R802, R491, R696, R699, R611, R750, R615, R667, R678, R813	Lynch syndrome	Pathogenic (Sep 5, 2013)	reviewed by expert panel
Select item 139366958.	NM_000535.7(PMS2):c.2397_2400dup (p.Ser801fs) GRCh37: Chr7:6017263-6017264 GRCh38: Chr7:5977632-5977633	PMS2	S610fs, S695fs, S698fs, S749fs, S666fs, S490fs, S677fs, S812fs, S614fs, S801fs	Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms	Pathogenic (May 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 211673259.	NM_000535.7(PMS2):c.2397del (p.Pro800fs) GRCh37: Chr7:6017267 GRCh38: Chr7:5977636	PMS2	P613fs, P811fs, P489fs, P800fs, P694fs, P697fs, P748fs, P609fs, P665fs, P676fs	Hereditary nonpolyposis colorectal neoplasms	Pathogenic (Mar 25, 2022)	criteria provided, single submitter
Select item 179047760.	NM_000535.7(PMS2):c.2385_2386dup (p.Val796fs) GRCh37: Chr7:6017277-6017278 GRCh38: Chr7:5977646-5977647	PMS2	V672fs, V690fs, V485fs, V609fs, V796fs, V605fs, V661fs, V744fs, V807fs, V693fs	Hereditary cancer-predisposing syndrome	Pathogenic (Oct 29, 2021)	criteria provided, single submitter
Select item 48035161.	NM_000535.7(PMS2):c.2382dup (p.Gly795fs) GRCh37: Chr7:6017281-6017282 GRCh38: Chr7:5977650-5977651	PMS2	G484fs, G671fs, G689fs, G806fs, G608fs, G660fs, G795fs, G604fs, G692fs, G743fs	Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms	Pathogenic (Jul 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107598662.	NM_000535.7(PMS2):c.2380_2381dup (p.Gly795fs) GRCh37: Chr7:6017282-6017283 GRCh38: Chr7:5977651-5977652	PMS2	G484fs, G604fs, G608fs, G660fs, G671fs, G689fs, G692fs, G743fs, G795fs, G806fs	Hereditary nonpolyposis colorectal neoplasms	Pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 179008463.	NM_000535.7(PMS2):c.2357_2373del (p.Leu786fs) GRCh37: Chr7:6017291-6017307 GRCh38: Chr7:5977660-5977676	PMS2	L475fs, L595fs, L662fs, L734fs, L797fs, L599fs, L683fs, L651fs, L680fs, L786fs	Hereditary cancer-predisposing syndrome	Pathogenic (Sep 9, 2019)	criteria provided, single submitter
Select item 9133864.	NM_000535.7(PMS2):c.2361_2364del (p.Phe788fs) GRCh37: Chr7:6017300-6017303 GRCh38: Chr7:5977669-5977672	PMS2	F601fs, F653fs, F682fs, F685fs, F597fs, F788fs, F477fs, F664fs, F736fs, F799fs	Lynch syndrome	Pathogenic (Sep 5, 2013)	reviewed by expert panel
Select item 179004365.	NM_000535.7(PMS2):c.2353_2360del (p.Glu785fs) GRCh37: Chr7:6017304-6017311 GRCh38: Chr7:5977673-5977680	PMS2	E474fs, E661fs, E594fs, E598fs, E682fs, E796fs, E650fs, E785fs, E679fs, E733fs	Hereditary cancer-predisposing syndrome	Pathogenic (Sep 29, 2017)	criteria provided, single submitter
Select item 45569966.	NM_000535.7(PMS2):c.2353G>T (p.Glu785Ter) GRCh37: Chr7:6017311 GRCh38: Chr7:5977680	PMS2	E785, E594, E796, E474, E598, E661, E682, E733, E650, E679	Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome	Pathogenic (Aug 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107453167.	NM_000535.7(PMS2):c.2341dup (p.Gln781fs) GRCh37: Chr7:6017322-6017323 GRCh38: Chr7:5977691-5977692	PMS2	Q470fs, Q590fs, Q594fs, Q646fs, Q657fs, Q675fs, Q678fs, Q729fs, Q781fs, Q792fs	Hereditary nonpolyposis colorectal neoplasms	Pathogenic (Apr 21, 2020)	criteria provided, single submitter
Select item 142956868.	NM_000535.7(PMS2):c.2341C>T (p.Gln781Ter) GRCh37: Chr7:6017323 GRCh38: Chr7:5977692	PMS2	Q594, Q590, Q675, Q729, Q781, Q792, Q470, Q646, Q657, Q678	Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms	Pathogenic (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 52580969.	NM_000535.7(PMS2):c.2324_2328delinsGCTGA (p.Asn775_Trp776delinsSerTer) GRCh37: Chr7:6017336-6017340 GRCh38: Chr7:5977705-5977709	PMS2		Hereditary nonpolyposis colorectal neoplasms	Pathogenic (Oct 5, 2018)	criteria provided, single submitter
Select item 54605770.	NM_000535.7(PMS2):c.2319dup (p.Lys774Ter) GRCh37: Chr7:6017344-6017345 GRCh38: Chr7:5977713-5977714	PMS2	K583, K650, K722, K463, K639, K587, K668, K671, K774, K785	Hereditary cancer-predisposing syndrome, not provided, Hereditary nonpolyposis colorectal neoplasms	Pathogenic (Mar 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 48426571.	NM_000535.7(PMS2):c.2296A>T (p.Lys766Ter) GRCh37: Chr7:6017368 GRCh38: Chr7:5977737	PMS2	K766, K660, K714, K663, K455, K579, K575, K631, K642, K777	Hereditary cancer-predisposing syndrome	Pathogenic (Jan 24, 2018)	criteria provided, single submitter
Select item 178894972.	NM_000535.7(PMS2):c.2281del (p.Val761fs) GRCh37: Chr7:6017383 GRCh38: Chr7:5977752	PMS2	V570fs, V655fs, V658fs, V772fs, V626fs, V637fs, V709fs, V450fs, V761fs, V574fs	Hereditary cancer-predisposing syndrome	Pathogenic (Nov 29, 2020)	criteria provided, single submitter
Select item 106837873.	NM_000535.7(PMS2):c.2276-1G>C GRCh37: Chr7:6017389 GRCh38: Chr7:5977758	PMS2	A635P, A770P	Hereditary nonpolyposis colorectal neoplasms	Likely pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 54876174.	NM_000535.7(PMS2):c.2276-2A>C GRCh37: Chr7:6017390 GRCh38: Chr7:5977759	PMS2	L634F, L769F	Lynch syndrome 4	Likely pathogenic (Jul 7, 2017)	criteria provided, single submitter
Select item 57908875.	NM_000535.7(PMS2):c.2275+2T>C GRCh37: Chr7:6018225 GRCh38: Chr7:5978594	PMS2		Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms	Pathogenic/Likely pathogenic (Jan 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 66487876.	NM_000535.7(PMS2):c.2275+1G>C GRCh37: Chr7:6018226 GRCh38: Chr7:5978595	PMS2		Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome	Pathogenic/Likely pathogenic (Jun 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 45569777.	NM_000535.7(PMS2):c.2275+1G>T GRCh37: Chr7:6018226 GRCh38: Chr7:5978595	PMS2		Hereditary nonpolyposis colorectal neoplasms	Pathogenic (Dec 29, 2021)	criteria provided, single submitter
Select item 44920878.	NM_000535.7(PMS2):c.2275+1G>A GRCh37: Chr7:6018226 GRCh38: Chr7:5978595	PMS2		not provided, Hereditary cancer-predisposing syndrome	Pathogenic (Jul 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 178881979.	NM_000535.7(PMS2):c.2273del (p.Asn758fs) GRCh37: Chr7:6018229 GRCh38: Chr7:5978598	PMS2	N447fs, N567fs, N652fs, N655fs, N706fs, N571fs, N758fs, N623fs	Hereditary cancer-predisposing syndrome	Pathogenic (Jun 21, 2021)	criteria provided, single submitter
Select item 82098780.	NM_000535.7(PMS2):c.2269G>T (p.Glu757Ter) GRCh37: Chr7:6018233 GRCh38: Chr7:5978602	PMS2	E622, E654, E705, E651, E570, E757, E446, E566	Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome	Pathogenic (Aug 20, 2020)	criteria provided, multiple submitters, no conflicts
Select item 178856181.	NM_000535.7(PMS2):c.2259dup (p.Val754fs) GRCh37: Chr7:6018242-6018243 GRCh38: Chr7:5978611-5978612	PMS2	V702fs, V443fs, V648fs, V651fs, V754fs, V563fs, V567fs, V619fs	Hereditary cancer-predisposing syndrome	Pathogenic (Oct 7, 2019)	criteria provided, single submitter
Select item 178856082.	NM_000535.7(PMS2):c.2259del (p.Phe753fs) GRCh37: Chr7:6018243 GRCh38: Chr7:5978612	PMS2	F566fs, F650fs, F562fs, F647fs, F753fs, F442fs, F701fs, F618fs	Hereditary cancer-predisposing syndrome	Pathogenic (Jul 30, 2021)	criteria provided, single submitter
Select item 65276783.	NM_000535.7(PMS2):c.2249del (p.Gly750fs) GRCh37: Chr7:6018253 GRCh38: Chr7:5978622	PMS2	G615fs, G559fs, G644fs, G698fs, G563fs, G647fs, G439fs, G750fs	Hereditary nonpolyposis colorectal neoplasms	Pathogenic (Jun 18, 2019)	criteria provided, single submitter
Select item 9133384.	NM_000535.7(PMS2):c.2243_2246del (p.Lys748fs) GRCh37: Chr7:6018256-6018259 GRCh38: Chr7:5978625-5978628	PMS2	K561fs, K696fs, K557fs, K645fs, K437fs, K613fs, K642fs, K748fs	Lynch syndrome	Pathogenic (Sep 5, 2013)	reviewed by expert panel
Select item 50475385.	NM_000535.7(PMS2):c.2239A>T (p.Arg747Ter) GRCh37: Chr7:6018263 GRCh38: Chr7:5978632	PMS2	R747, R641, R556, R695, R436, R560, R612, R644	Lynch syndrome, Hereditary cancer-predisposing syndrome	Pathogenic (Dec 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 178794486.	NM_000535.7(PMS2):c.2221G>T (p.Glu741Ter) GRCh37: Chr7:6018281 GRCh38: Chr7:5978650	PMS2	E484, E583, E606, E741, E749, E550, E579, E619, E633, E675, E554, E586, E629, E685, E705, E803, E340, E430, E570, E635, E638, E689	Hereditary cancer-predisposing syndrome	Pathogenic (Oct 24, 2022)	criteria provided, single submitter
Select item 106892687.	NM_000535.7(PMS2):c.2208del (p.Ala737fs) GRCh37: Chr7:6018294 GRCh38: Chr7:5978663	PMS2	A426fs, A546fs, A550fs, A602fs, A631fs, A634fs, A685fs, A737fs	Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome	Pathogenic (Nov 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 178769688.	NM_000535.7(PMS2):c.2206G>T (p.Glu736Ter) GRCh37: Chr7:6018296 GRCh38: Chr7:5978665	PMS2	E425, E479, E574, E614, E624, E628, E680, E545, E578, E630, E670, E684, E744, E798, E581, E601, E700, E736, E335, E549, E565, E633	Hereditary cancer-predisposing syndrome	Pathogenic (Mar 15, 2022)	criteria provided, single submitter
Select item 178750589.	NM_000535.7(PMS2):c.2197del (p.Ala733fs) GRCh37: Chr7:6018305 GRCh38: Chr7:5978674	PMS2	A422fs, A546fs, A598fs, A542fs, A627fs, A733fs, A630fs, A681fs	Hereditary cancer-predisposing syndrome	Pathogenic (Aug 30, 2022)	criteria provided, single submitter
Select item 9133190.	NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs) GRCh37: Chr7:6018306-6018310 GRCh38: Chr7:5978675-5978679	PMS2	L420fs, L625fs, L628fs, L679fs, L540fs, L544fs, L596fs, L731fs	Lynch syndrome	Pathogenic (Jun 21, 2019)	reviewed by expert panel
Select item 48036991.	NM_000535.7(PMS2):c.2192T>A (p.Leu731Ter) GRCh37: Chr7:6018310 GRCh38: Chr7:5978679	PMS2	L731, L540, L596, L679, L625, L628, L420, L544	Hereditary cancer-predisposing syndrome	Pathogenic (Mar 27, 2018)	criteria provided, single submitter
Select item 41101592.	NM_000535.7(PMS2):c.2192T>G (p.Leu731Ter) GRCh37: Chr7:6018310 GRCh38: Chr7:5978679	PMS2	L731, L625, L628, L679, L420, L540, L544, L596	Hereditary nonpolyposis colorectal neoplasms, not provided	Pathogenic (Nov 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 43403093.	NM_000535.7(PMS2):c.2184del (p.Leu729fs) GRCh37: Chr7:6018318 GRCh38: Chr7:5978687	PMS2	L538fs, L594fs, L677fs, L729fs, L542fs, L418fs, L623fs, L626fs	Endometrial carcinoma	Pathogenic	no assertion criteria provided
Select item 82085494.	NM_000535.7(PMS2):c.2180dup (p.Thr728fs) GRCh37: Chr7:6018321-6018322 GRCh38: Chr7:5978690-5978691	PMS2	T417fs, T541fs, T593fs, T728fs, T537fs, T622fs, T625fs, T676fs	Hereditary cancer-predisposing syndrome	Pathogenic (Jun 27, 2019)	criteria provided, single submitter
Select item 106875595.	NM_000535.7(PMS2):c.2179C>T (p.Gln727Ter) GRCh37: Chr7:6018323 GRCh38: Chr7:5978692	PMS2	Q416, Q536, Q540, Q592, Q621, Q624, Q675, Q727	Hereditary nonpolyposis colorectal neoplasms	Pathogenic (Jan 23, 2020)	criteria provided, single submitter
Select item 178720196.	NM_000535.7(PMS2):c.2177del (p.Pro726fs) GRCh37: Chr7:6018325 GRCh38: Chr7:5978694	PMS2	P539fs, P674fs, P415fs, P620fs, P535fs, P591fs, P623fs, P726fs	Hereditary cancer-predisposing syndrome	Pathogenic (Apr 3, 2019)	criteria provided, single submitter
Select item 178716697.	NM_000535.7(PMS2):c.2175-1G>A GRCh37: Chr7:6018328 GRCh38: Chr7:5978697	PMS2		Hereditary cancer-predisposing syndrome	Likely pathogenic (Aug 26, 2021)	criteria provided, single submitter
Select item 58270198.	NM_000535.7(PMS2):c.2175-1G>C GRCh37: Chr7:6018328 GRCh38: Chr7:5978697	PMS2		Hereditary nonpolyposis colorectal neoplasms	Likely pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 178716799.	NM_000535.7(PMS2):c.2175-2A>G GRCh37: Chr7:6018329 GRCh38: Chr7:5978698	PMS2		Hereditary cancer-predisposing syndrome	Likely pathogenic (Mar 12, 2019)	criteria provided, single submitter
Select item 1703765100.	NM_000535.7(PMS2):c.1144+250_2175-1948del GRCh37: Chr7:6020275-6029181 GRCh38: Chr7:5980644-5989550	PMS2		Hepatocellular carcinoma	Likely pathogenic (May 17, 2022)	no assertion criteria provided

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