ClinVar for MedGen (Select 1750327) - ClinVar

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Items: 43

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 14900011.	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 10668442.	NM_000251.3(MSH2):c.641_642insCAAATTGAGTCTAGTGATAA (p.Arg214fs) GRCh37: Chr2:47637507-47637508 GRCh38: Chr2:47410368-47410369	MSH2	R148fs, R214fs	Mismatch repair cancer syndrome 2, Hereditary nonpolyposis colorectal neoplasms	Pathogenic/Likely pathogenic (Jan 3, 2023)	criteria provided, multiple submitters, no conflicts
Select item 8566703.	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 8206004.	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 4917805.	NM_000251.3(MSH2):c.1661+11C>T GRCh37: Chr2:47693958 GRCh38: Chr2:47466819	MSH2		Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1, Mismatch repair cancer syndrome 2, Muir-Torré syndrome, Hereditary cancer-predisposing syndrome, not specified	Likely benign (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4858366.	NM_000251.3(MSH2):c.1454T>C (p.Met485Thr) GRCh37: Chr2:47690237 GRCh38: Chr2:47463098	MSH2	M485T, M419T	Hereditary cancer-predisposing syndrome, Lynch syndrome 1, Mismatch repair cancer syndrome 2, Muir-Torré syndrome, Hereditary nonpolyposis colorectal neoplasms	Conflicting interpretations of pathogenicity (Mar 29, 2022)	criteria provided, conflicting interpretations
Select item 4836647.	NM_000251.3(MSH2):c.1661G>A (p.Ser554Asn) GRCh37: Chr2:47693947 GRCh38: Chr2:47466808	MSH2	S554N, S488N	Lynch syndrome 1, Mismatch repair cancer syndrome 2, Muir-Torré syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome 1	Pathogenic/Likely pathogenic (Aug 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4809118.	NM_000251.3(MSH2):c.992A>G (p.Asn331Ser) GRCh37: Chr2:47643484 GRCh38: Chr2:47416345	MSH2	N331S, N265S	Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome, Hereditary cancer-predisposing syndrome, not specified, Lynch syndrome 1, Muir-Torré syndrome, Mismatch repair cancer syndrome 2	Conflicting interpretations of pathogenicity (Aug 15, 2023)	criteria provided, conflicting interpretations
Select item 4555329.	NM_000251.3(MSH2):c.1892G>A (p.Arg631Lys) GRCh37: Chr2:47702296 GRCh38: Chr2:47475157	MSH2	R631K, R565K	Hereditary cancer-predisposing syndrome, Mismatch repair cancer syndrome 2, Lynch syndrome 1, Muir-Torré syndrome, Hereditary nonpolyposis colorectal neoplasms, not provided	Conflicting interpretations of pathogenicity (May 25, 2023)	criteria provided, conflicting interpretations
Select item 45548410.	NM_000251.3(MSH2):c.1354G>A (p.Glu452Lys) GRCh37: Chr2:47672764 GRCh38: Chr2:47445625	MSH2	E452K, E386K	Hereditary cancer-predisposing syndrome, Mismatch repair cancer syndrome 2, Lynch syndrome 1, Muir-Torré syndrome, Hereditary nonpolyposis colorectal neoplasms	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 25409011.	NM_000251.2(MSH2):c.-125_1076+?del GRCh37: Chr2:47630206-47656880 GRCh38: Chr2:47403067-47429741	MSH2		Lynch syndrome	Pathogenic (Jan 15, 2017)	criteria provided, single submitter
Select item 23300112.	NM_000251.3(MSH2):c.1480T>C (p.Ser494Pro) GRCh37: Chr2:47690263 GRCh38: Chr2:47463124	MSH2	S494P, S428P	not provided, Mismatch repair cancer syndrome 2, Lynch syndrome 1, Muir-Torré syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome	Conflicting interpretations of pathogenicity (Feb 1, 2023)	criteria provided, conflicting interpretations
Select item 22977013.	NM_000251.3(MSH2):c.2260A>T (p.Thr754Ser) GRCh37: Chr2:47705460 GRCh38: Chr2:47478321	MSH2	T754S, T688S	Mismatch repair cancer syndrome 2, Lynch syndrome 1, Muir-Torré syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not provided, not specified	Conflicting interpretations of pathogenicity (Sep 27, 2022)	criteria provided, conflicting interpretations
Select item 22015714.	NM_000251.3(MSH2):c.508C>G (p.Gln170Glu) GRCh37: Chr2:47637374 GRCh38: Chr2:47410235	MSH2	Q170E, Q104E	not specified, Lynch syndrome 1, Lynch syndrome 1, Muir-Torré syndrome, Mismatch repair cancer syndrome 2, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not provided	Conflicting interpretations of pathogenicity (Aug 15, 2023)	criteria provided, conflicting interpretations
Select item 21635215.	NM_000251.3(MSH2):c.2260A>G (p.Thr754Ala) GRCh37: Chr2:47705460 GRCh38: Chr2:47478321	MSH2	T754A, T688A	Mismatch repair cancer syndrome 2, Lynch syndrome 1, Muir-Torré syndrome, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, not provided, Lynch syndrome 1	Conflicting interpretations of pathogenicity (Mar 30, 2023)	criteria provided, conflicting interpretations
Select item 18566816.	NM_000251.3(MSH2):c.73G>T (p.Gly25Cys) GRCh37: Chr2:47630403 GRCh38: Chr2:47403264	MSH2	G25C	Muir-Torré syndrome, Mismatch repair cancer syndrome 2, Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not provided	Uncertain significance (Jun 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 18479217.	NM_000251.3(MSH2):c.-181G>A GRCh37: Chr2:47630150 GRCh38: Chr2:47403011	MSH2		Lynch syndrome, Muir-Torré syndrome, Mismatch repair cancer syndrome 2, Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not provided, Lynch syndrome 1	Uncertain significance (Apr 12, 2023)	criteria provided, multiple submitters, no conflicts
Select item 18258318.	NM_000251.3(MSH2):c.566C>G (p.Ala189Gly) GRCh37: Chr2:47637432 GRCh38: Chr2:47410293	MSH2	A189G, A123G	Hereditary nonpolyposis colorectal neoplasms, Muir-Torré syndrome, Mismatch repair cancer syndrome 2, Lynch syndrome 1, Hereditary cancer-predisposing syndrome, not specified, not provided, Lynch syndrome 1	Conflicting interpretations of pathogenicity (Jun 15, 2023)	criteria provided, conflicting interpretations
Select item 13585419.	NM_000251.3(MSH2):c.166G>A (p.Glu56Lys) GRCh37: Chr2:47630496 GRCh38: Chr2:47403357	MSH2	E56K	Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1, Mismatch repair cancer syndrome 2, Muir-Torré syndrome, Hereditary cancer-predisposing syndrome, not specified, not provided	Conflicting interpretations of pathogenicity (Aug 15, 2023)	criteria provided, conflicting interpretations
Select item 13484620.	NM_000251.3(MSH2):c.220A>C (p.Asn74His) GRCh37: Chr2:47635548 GRCh38: Chr2:47408409	MSH2	N74H, N8H	Mismatch repair cancer syndrome 2, Muir-Torré syndrome, Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not specified, not provided, Lynch syndrome 1	Conflicting interpretations of pathogenicity (Jun 15, 2023)	criteria provided, conflicting interpretations
Select item 12764821.	NM_000251.3(MSH2):c.610G>A (p.Gly204Arg) GRCh37: Chr2:47637476 GRCh38: Chr2:47410337	MSH2	G204R, G138R	Muir-Torré syndrome, Mismatch repair cancer syndrome 2, Lynch syndrome 1, Hereditary cancer-predisposing syndrome, not provided, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1	Conflicting interpretations of pathogenicity (Mar 21, 2023)	criteria provided, conflicting interpretations
Select item 9127122.	NM_000251.3(MSH2):c.991A>G (p.Asn331Asp) GRCh37: Chr2:47643483 GRCh38: Chr2:47416344	MSH2	N331D, N265D	Lynch syndrome 1	Uncertain significance (Jun 13, 2018)	reviewed by expert panel
Select item 9126723.	NM_000251.3(MSH2):c.97A>C (p.Thr33Pro) GRCh37: Chr2:47630427 GRCh38: Chr2:47403288	MSH2	T33P	Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1, Mismatch repair cancer syndrome 2, Muir-Torré syndrome, Hereditary cancer-predisposing syndrome, not provided, not specified, Lynch syndrome 1	Conflicting interpretations of pathogenicity (Mar 21, 2023)	criteria provided, conflicting interpretations
Select item 9115424.	NM_000251.3(MSH2):c.643C>T (p.Gln215Ter) GRCh37: Chr2:47637509 GRCh38: Chr2:47410370	MSH2	Q215, Q149	Lynch syndrome	Pathogenic (Sep 5, 2013)	reviewed by expert panel
Select item 9111525.	NM_000251.3(MSH2):c.505A>G (p.Ile169Val) GRCh37: Chr2:47637371 GRCh38: Chr2:47410232	MSH2	I169V, I103V	Lynch syndrome	Likely benign (Sep 5, 2013)	reviewed by expert panel
Select item 9105026.	NM_000251.3(MSH2):c.273TCT[2] (p.Leu94del) GRCh37: Chr2:47635601-47635603 GRCh38: Chr2:47408462-47408464	MSH2	L94del, L28del	Lynch syndrome	Benign (Sep 5, 2013)	reviewed by expert panel
Select item 9096427.	NM_000251.3(MSH2):c.23C>T (p.Thr8Met) GRCh37: Chr2:47630353 GRCh38: Chr2:47403214	MSH2	T8M	Lynch syndrome	Benign (Sep 5, 2013)	reviewed by expert panel
Select item 9084928.	NM_000251.3(MSH2):c.2006-5T>A GRCh37: Chr2:47703501 GRCh38: Chr2:47476362	MSH2		Mismatch repair cancer syndrome 2	Pathogenic (Feb 1, 2006)	no assertion criteria provided
Select item 9083229.	NM_000251.3(MSH2):c.1A>C (p.Met1Leu) GRCh37: Chr2:47630331 GRCh38: Chr2:47403192	MSH2	M1L	Lynch syndrome	Uncertain significance (Jun 21, 2019)	reviewed by expert panel
Select item 9081230.	NM_000251.3(MSH2):c.1886A>G (p.Gln629Arg) GRCh37: Chr2:47702290 GRCh38: Chr2:47475151	MSH2	Q629R, Q563R	Lynch syndrome	Benign (Sep 5, 2013)	reviewed by expert panel
Select item 9075031.	NM_000251.3(MSH2):c.1690A>G (p.Thr564Ala) GRCh37: Chr2:47698132 GRCh38: Chr2:47470993	MSH2	T564A, T498A	Lynch syndrome	Benign (Sep 5, 2013)	reviewed by expert panel
Select item 9074432.	NM_000251.3(MSH2):c.1680T>C (p.Asn560=) GRCh37: Chr2:47698122 GRCh38: Chr2:47470983	MSH2		Lynch syndrome	Likely benign (Sep 5, 2013)	reviewed by expert panel
Select item 9072733.	NM_000251.3(MSH2):c.1662-1G>A GRCh37: Chr2:47698103 GRCh38: Chr2:47470964	MSH2		Lynch syndrome	Pathogenic (Sep 5, 2013)	reviewed by expert panel
Select item 9072034.	NM_000251.3(MSH2):c.1661+1G>T GRCh37: Chr2:47693948 GRCh38: Chr2:47466809	MSH2		Lynch syndrome	Likely pathogenic (Jun 21, 2019)	reviewed by expert panel
Select item 9065435.	NM_000251.3(MSH2):c.138C>G (p.His46Gln) GRCh37: Chr2:47630468 GRCh38: Chr2:47403329	MSH2	H46Q	Lynch syndrome	Likely benign (Dec 19, 2018)	reviewed by expert panel
Select item 9059236.	NM_000251.3(MSH2):c.1276+1G>T GRCh37: Chr2:47657081 GRCh38: Chr2:47429942	MSH2		Lynch syndrome	Likely pathogenic (Jun 21, 2019)	reviewed by expert panel
Select item 9058337.	NM_000251.3(MSH2):c.1255C>A (p.Gln419Lys) GRCh37: Chr2:47657059 GRCh38: Chr2:47429920	MSH2	Q419K, Q353K	Lynch syndrome	Likely benign (Sep 5, 2013)	reviewed by expert panel
Select item 9055738.	NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter) GRCh37: Chr2:47656969 GRCh38: Chr2:47429830	MSH2	R389, R323	Lynch syndrome	Pathogenic (Sep 5, 2013)	reviewed by expert panel
Select item 3657739.	NM_000251.3(MSH2):c.380A>G (p.Asn127Ser) GRCh37: Chr2:47637246 GRCh38: Chr2:47410107	MSH2	N127S, N61S	Lynch syndrome	Benign (Sep 5, 2013)	reviewed by expert panel
Select item 3657140.	NM_000251.3(MSH2):c.2006-6T>C GRCh37: Chr2:47703500 GRCh38: Chr2:47476361	MSH2		Lynch syndrome	Benign (Sep 5, 2013)	reviewed by expert panel
Select item 3656841.	NM_000251.3(MSH2):c.1666T>C (p.Leu556=) GRCh37: Chr2:47698108 GRCh38: Chr2:47470969	MSH2		Lynch syndrome	Benign (Sep 5, 2013)	reviewed by expert panel
Select item 3656642.	NM_000251.3(MSH2):c.1511-9A>T GRCh37: Chr2:47693788 GRCh38: Chr2:47466649	MSH2		Lynch syndrome	Benign (Sep 5, 2013)	reviewed by expert panel
Select item 176843.	NM_000251.3(MSH2):c.454del (p.Met152fs) GRCh37: Chr2:47637317 GRCh38: Chr2:47410178	MSH2	M86fs, M152fs	Lynch syndrome	Pathogenic (Sep 5, 2013)	reviewed by expert panel

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Items: 43