ClinVar for MedGen (Select 1733656) - ClinVar

Links from MedGen

Items: 57

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 8242731.	NM_000179.3(MSH6):c.3832_3838dup (p.Gln1280fs) GRCh37: Chr2:48033619-48033620 GRCh38: Chr2:47806480-47806481	MSH6	Q1280fs, Q1150fs, Q978fs	Endometrial carcinoma, Mismatch repair cancer syndrome 3, Lynch syndrome 5, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome	Pathogenic/Likely pathogenic (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6452192.	NM_000179.3(MSH6):c.2684C>G (p.Thr895Arg) GRCh37: Chr2:48027806 GRCh38: Chr2:47800667	MSH6	T593R, T765R, T895R	Endometrial carcinoma, Lynch syndrome 5, Mismatch repair cancer syndrome 3, Hereditary nonpolyposis colorectal neoplasms	Uncertain significance (Oct 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 6419953.	NM_000179.3(MSH6):c.4029_4031dup (p.Thr1344dup) GRCh37: Chr2:48033943-48033944 GRCh38: Chr2:47806804-47806805	MSH6		Endometrial carcinoma, Mismatch repair cancer syndrome 3, Lynch syndrome 5, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome	Uncertain significance (Aug 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 5258084.	NM_000179.3(MSH6):c.589G>C (p.Asp197His) GRCh37: Chr2:48023164 GRCh38: Chr2:47796025	MSH6	D197H	Endometrial carcinoma, Lynch syndrome 5, Mismatch repair cancer syndrome 3, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 4919505.	NM_000179.3(MSH6):c.3557-17A>T GRCh37: Chr2:48032740 GRCh38: Chr2:47805601	MSH6		Hereditary cancer-predisposing syndrome, Mismatch repair cancer syndrome 3, Endometrial carcinoma, Lynch syndrome 5	Likely benign (Mar 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4919336.	NM_000179.3(MSH6):c.3251A>G (p.Asp1084Gly) GRCh37: Chr2:48030637 GRCh38: Chr2:47803498	MSH6	D1084G, D782G, D954G	Hereditary cancer-predisposing syndrome, MSH6-related condition, Lynch syndrome 5, Mismatch repair cancer syndrome 3, Endometrial carcinoma, Hereditary nonpolyposis colorectal neoplasms	Uncertain significance (Sep 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 4837997.	NM_000179.3(MSH6):c.3341T>A (p.Leu1114Gln) GRCh37: Chr2:48030727 GRCh38: Chr2:47803588	MSH6	L1114Q, L812Q, L984Q	Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Mismatch repair cancer syndrome 3, Lynch syndrome 5, Endometrial carcinoma, not provided	Uncertain significance (Mar 14, 2023)	criteria provided, multiple submitters, no conflicts
Select item 4809158.	NM_000179.3(MSH6):c.220G>T (p.Gly74Ter) GRCh37: Chr2:48010592 GRCh38: Chr2:47783453	MSH6	G74*	Hereditary cancer-predisposing syndrome, Mismatch repair cancer syndrome 3, Lynch syndrome 5, Endometrial carcinoma, Hereditary nonpolyposis colorectal neoplasms	Pathogenic (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4552289.	NM_000179.3(MSH6):c.3014G>T (p.Arg1005Leu) GRCh37: Chr2:48028136 GRCh38: Chr2:47800997	MSH6	R1005L, R875L, R703L	Hereditary cancer-predisposing syndrome, Mismatch repair cancer syndrome 3, Endometrial carcinoma, Lynch syndrome 5, Hereditary nonpolyposis colorectal neoplasms	Uncertain significance (Jul 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 45521710.	NM_000179.3(MSH6):c.2741C>T (p.Thr914Ile) GRCh37: Chr2:48027863 GRCh38: Chr2:47800724	MSH6	T914I, T612I, T784I	Mismatch repair cancer syndrome 3, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome	Conflicting interpretations of pathogenicity (Aug 10, 2022)	criteria provided, conflicting interpretations
Select item 42760711.	NM_000179.3(MSH6):c.362G>A (p.Arg121His) GRCh37: Chr2:48018167 GRCh38: Chr2:47791028	MSH6	R121H	Lynch syndrome 5, Endometrial carcinoma, Mismatch repair cancer syndrome 3, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, not provided	Conflicting interpretations of pathogenicity (Jun 13, 2023)	criteria provided, conflicting interpretations
Select item 41885112.	NM_000179.3(MSH6):c.3739A>G (p.Thr1247Ala) GRCh37: Chr2:48033435 GRCh38: Chr2:47806296	MSH6	T1247A, T945A, T1117A	Lynch syndrome 5, Endometrial carcinoma, Mismatch repair cancer syndrome 3, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, not provided	Uncertain significance (Dec 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 41053513.	NM_000179.3(MSH6):c.3607C>A (p.His1203Asn) GRCh37: Chr2:48032807 GRCh38: Chr2:47805668	MSH6	H1203N, H1073N, H901N	Hereditary nonpolyposis colorectal neoplasms, not provided, Hereditary cancer-predisposing syndrome, Mismatch repair cancer syndrome 3, Endometrial carcinoma, Lynch syndrome 5	Conflicting interpretations of pathogenicity (Mar 2, 2023)	criteria provided, conflicting interpretations
Select item 41051114.	NM_000179.3(MSH6):c.3586G>C (p.Glu1196Gln) GRCh37: Chr2:48032786 GRCh38: Chr2:47805647	MSH6	E1196Q, E1066Q, E894Q	Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not provided, Mismatch repair cancer syndrome 3, Endometrial carcinoma, Lynch syndrome 5	Conflicting interpretations of pathogenicity (Apr 26, 2023)	criteria provided, conflicting interpretations
Select item 41045315.	NM_000179.3(MSH6):c.1538T>C (p.Ile513Thr) GRCh37: Chr2:48026660 GRCh38: Chr2:47799521	MSH6	I513T, I211T, I383T	Hereditary cancer-predisposing syndrome, not provided, Hereditary nonpolyposis colorectal neoplasms, Mismatch repair cancer syndrome 3, Endometrial carcinoma, Lynch syndrome 5	Uncertain significance (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 41043816.	NM_000179.3(MSH6):c.3199_3213del (p.Ser1067_Asp1071del) GRCh37: Chr2:48030583-48030597 GRCh38: Chr2:47803444-47803458	MSH6		Hereditary nonpolyposis colorectal neoplasms, Endometrial carcinoma, Mismatch repair cancer syndrome 3, Lynch syndrome 5	Uncertain significance (Dec 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 37817117.	NM_000179.3(MSH6):c.3801+14G>T GRCh37: Chr2:48033511 GRCh38: Chr2:47806372	MSH6		Hereditary nonpolyposis colorectal neoplasms, Breast and/or ovarian cancer, not specified, Lynch syndrome 5, Endometrial carcinoma, Mismatch repair cancer syndrome 3, Hereditary cancer-predisposing syndrome	Benign/Likely benign (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 23717518.	NM_000179.3(MSH6):c.3070C>T (p.Arg1024Trp) GRCh37: Chr2:48028192 GRCh38: Chr2:47801053	MSH6	R1024W, R894W, R722W	Hereditary cancer-predisposing syndrome, Mismatch repair cancer syndrome 3, Lynch syndrome 5, Endometrial carcinoma, Hereditary nonpolyposis colorectal neoplasms, not provided	Conflicting interpretations of pathogenicity (Apr 18, 2023)	criteria provided, conflicting interpretations
Select item 23713319.	NM_000179.3(MSH6):c.1350_1351del (p.Phe451fs) GRCh37: Chr2:48026471-48026472 GRCh38: Chr2:47799332-47799333	MSH6	F321fs, F451fs, F149fs	Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5, Mismatch repair cancer syndrome 3, Lynch syndrome 5, Endometrial carcinoma, Hereditary cancer-predisposing syndrome	Pathogenic/Likely pathogenic (Mar 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 23278520.	NM_000179.3(MSH6):c.2098C>A (p.Leu700Ile) GRCh37: Chr2:48027220 GRCh38: Chr2:47800081	MSH6	L700I, L570I, L398I	Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Endometrial carcinoma, Mismatch repair cancer syndrome 3, Lynch syndrome 5, Lynch syndrome	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 23123621.	NM_000179.3(MSH6):c.2668G>T (p.Val890Phe) GRCh37: Chr2:48027790 GRCh38: Chr2:47800651	MSH6	V890F, V588F, V760F	Endometrial carcinoma, Mismatch repair cancer syndrome 3, Lynch syndrome 5, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not specified	Conflicting interpretations of pathogenicity (May 31, 2023)	criteria provided, conflicting interpretations
Select item 23121122.	NM_000179.3(MSH6):c.3742C>T (p.His1248Tyr) GRCh37: Chr2:48033438 GRCh38: Chr2:47806299	MSH6	H1248Y, H946Y, H1118Y	Endometrial carcinoma, Mismatch repair cancer syndrome 3, Lynch syndrome 5, Hereditary nonpolyposis colorectal neoplasms, not provided, Hereditary cancer-predisposing syndrome	Uncertain significance (Nov 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21807923.	NM_000179.3(MSH6):c.4028C>G (p.Ser1343Ter) GRCh37: Chr2:48033944 GRCh38: Chr2:47806805	MSH6	S1343, S1041, S1213*	Lynch syndrome 5, Endometrial carcinoma, Mismatch repair cancer syndrome 3, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms	Uncertain significance (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19222224.	NM_000179.3(MSH6):c.4072A>G (p.Lys1358Glu) GRCh37: Chr2:48033988 GRCh38: Chr2:47806849	MSH6	K1358E, K1228E, K1056E	Endometrial carcinoma, Lynch syndrome 5, Mismatch repair cancer syndrome 3, Lynch syndrome 1	Uncertain significance (Oct 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 18739425.	NM_000179.3(MSH6):c.3228C>T (p.Arg1076=) GRCh37: Chr2:48030614 GRCh38: Chr2:47803475	MSH6		Hereditary cancer-predisposing syndrome, Mismatch repair cancer syndrome 3, Endometrial carcinoma, Lynch syndrome 5	Likely benign (Apr 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18372326.	NM_000179.3(MSH6):c.10C>T (p.Gln4Ter) GRCh37: Chr2:48010382 GRCh38: Chr2:47783243	MSH6	Q4*	Endometrial carcinoma, Mismatch repair cancer syndrome 3, Lynch syndrome 5, Breast and/or ovarian cancer, MSH6-related condition, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome, not provided, Lynch syndrome 5	Pathogenic/Likely pathogenic (Mar 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 18267227.	NM_000179.3(MSH6):c.4001+2TAAC[4] GRCh37: Chr2:48033802-48033805 GRCh38: Chr2:47806652-47806653	MSH6		Endometrial carcinoma, Mismatch repair cancer syndrome 3, Lynch syndrome 5, Hereditary nonpolyposis colorectal neoplasms, not specified, Hereditary cancer-predisposing syndrome, not provided, Lynch syndrome 5	Benign/Likely benign (Aug 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 18262028.	NM_000179.3(MSH6):c.1190A>G (p.Tyr397Cys) GRCh37: Chr2:48026312 GRCh38: Chr2:47799173	MSH6	Y397C, Y267C, Y95C	Hereditary nonpolyposis colorectal neoplasms, Mismatch repair cancer syndrome 3, Lynch syndrome 5, Endometrial carcinoma, Hereditary cancer-predisposing syndrome, not specified, Lynch syndrome, Hereditary breast ovarian cancer syndrome, Lynch syndrome 5, not provided	Conflicting interpretations of pathogenicity (Sep 18, 2023)	criteria provided, conflicting interpretations
Select item 18261229.	NM_000179.3(MSH6):c.831A>C (p.Glu277Asp) GRCh37: Chr2:48025953 GRCh38: Chr2:47798814	MSH6	E277D, E147D	Endometrial carcinoma, Lynch syndrome 5, Mismatch repair cancer syndrome 3, Hereditary nonpolyposis colorectal neoplasms, MSH6-related condition, Hereditary cancer-predisposing syndrome, not provided, not specified, Lynch syndrome 5	Conflicting interpretations of pathogenicity (Sep 6, 2023)	criteria provided, conflicting interpretations
Select item 14262030.	NM_000179.3(MSH6):c.2653A>T (p.Lys885Ter) GRCh37: Chr2:48027775 GRCh38: Chr2:47800636	MSH6	K885, K755, K583*	Hereditary nonpolyposis colorectal neoplasms, Mismatch repair cancer syndrome 3, Hereditary cancer-predisposing syndrome, not provided	Pathogenic (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14256331.	NM_000179.3(MSH6):c.4077_4080dup (p.Ter1361IleextTer?) GRCh37: Chr2:48033991-48033992 GRCh38: Chr2:47806852-47806853	MSH6		MSH6-related condition, Endometrial carcinoma, Lynch syndrome 5, Mismatch repair cancer syndrome 3, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not specified, not provided, Lynch syndrome 5	Uncertain significance (Aug 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 13826032.	NM_000179.3(MSH6):c.3172+20T>C GRCh37: Chr2:48028314 GRCh38: Chr2:47801175	MSH6		Endometrial carcinoma, Mismatch repair cancer syndrome 3, Lynch syndrome 5, Hereditary nonpolyposis colorectal neoplasms, Breast and/or ovarian cancer, Hereditary cancer-predisposing syndrome, not specified	Benign/Likely benign (Aug 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 8956833.	NM_000179.3(MSH6):c.806C>G (p.Thr269Ser) GRCh37: Chr2:48025928 GRCh38: Chr2:47798789	MSH6	T269S, T139S	Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not specified, not provided, Endometrial carcinoma, Lynch syndrome 5, Mismatch repair cancer syndrome 3	Conflicting interpretations of pathogenicity (Aug 15, 2023)	criteria provided, conflicting interpretations
Select item 8955134.	NM_000179.3(MSH6):c.660A>C (p.Glu220Asp) GRCh37: Chr2:48025782 GRCh38: Chr2:47798643	MSH6	E220D, E90D	Lynch syndrome	Likely benign (Sep 5, 2013)	reviewed by expert panel
Select item 8954735.	NM_000179.3(MSH6):c.642C>G (p.Tyr214Ter) GRCh37: Chr2:48025764 GRCh38: Chr2:47798625	MSH6	Y214, Y84	Lynch syndrome	Pathogenic (Sep 5, 2013)	reviewed by expert panel
Select item 8950036.	NM_000179.3(MSH6):c.4001+2TAAC[2] GRCh37: Chr2:48033792-48033795 GRCh38: Chr2:47806653-47806656	MSH6		Lynch syndrome	Likely benign (Jun 21, 2019)	reviewed by expert panel
Select item 8948637.	NM_000179.3(MSH6):c.3939_3957dup (p.Ala1320delinsSerLysGlyThrTer) GRCh37: Chr2:48033727-48033728 GRCh38: Chr2:47806588-47806589	MSH6		Lynch syndrome	Pathogenic (Sep 5, 2013)	reviewed by expert panel
Select item 8941838.	NM_000179.3(MSH6):c.3557-4dup GRCh37: Chr2:48032740-48032741 GRCh38: Chr2:47805601-47805602	MSH6		Lynch syndrome	Benign (Sep 5, 2013)	reviewed by expert panel
Select item 8939039.	NM_000179.3(MSH6):c.3439-1G>T GRCh37: Chr2:48032048 GRCh38: Chr2:47804909	MSH6		Lynch syndrome	Likely pathogenic (Jun 21, 2019)	reviewed by expert panel
Select item 8938940.	NM_000179.3(MSH6):c.3439-16C>T GRCh37: Chr2:48032033 GRCh38: Chr2:47804894	MSH6		Lynch syndrome	Benign (Sep 5, 2013)	reviewed by expert panel
Select item 8937941.	NM_000179.3(MSH6):c.3386_3388del (p.Cys1129_Val1130delinsLeu) GRCh37: Chr2:48030772-48030774 GRCh38: Chr2:47803633-47803635	MSH6		Mismatch repair cancer syndrome 3	Pathogenic (Jan 1, 2004)	no assertion criteria provided
Select item 8936442.	NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) GRCh37: Chr2:48030639-48030640 GRCh38: Chr2:47803500-47803501	MSH6	F1088fs, F786fs, F958fs	Lynch syndrome	Pathogenic (Sep 5, 2013)	reviewed by expert panel
Select item 8936343.	NM_000179.3(MSH6):c.3261del (p.Phe1088fs) GRCh37: Chr2:48030640 GRCh38: Chr2:47803501	MSH6	F958fs, F786fs	Lynch syndrome	Pathogenic (Sep 5, 2013)	reviewed by expert panel
Select item 8933844.	NM_000179.3(MSH6):c.3103C>T (p.Arg1035Ter) GRCh37: Chr2:48028225 GRCh38: Chr2:47801086	MSH6	R1035, R733, R905*	Lynch syndrome	Pathogenic (Sep 5, 2013)	reviewed by expert panel
Select item 8933145.	NM_000179.3(MSH6):c.3020G>A (p.Trp1007Ter) GRCh37: Chr2:48028142 GRCh38: Chr2:47801003	MSH6	W1007, W705, W877*	Lynch syndrome	Pathogenic (Sep 5, 2013)	reviewed by expert panel
Select item 8931246.	NM_000179.3(MSH6):c.2731C>T (p.Arg911Ter) GRCh37: Chr2:48027853 GRCh38: Chr2:47800714	MSH6	R911, R609, R781*	Lynch syndrome	Pathogenic (Sep 5, 2013)	reviewed by expert panel
Select item 8925647.	NM_000179.3(MSH6):c.2150_2153del (p.Val717fs) GRCh37: Chr2:48027269-48027272 GRCh38: Chr2:47800130-47800133	MSH6	V415fs, V587fs	Lynch syndrome	Pathogenic (Sep 5, 2013)	reviewed by expert panel
Select item 8925348.	NM_000179.3(MSH6):c.2105C>G (p.Ser702Ter) GRCh37: Chr2:48027227 GRCh38: Chr2:47800088	MSH6	S702, S400, S572*	Lynch syndrome	Pathogenic (Sep 5, 2013)	reviewed by expert panel
Select item 8921949.	NM_000179.3(MSH6):c.1739C>T (p.Ser580Leu) GRCh37: Chr2:48026861 GRCh38: Chr2:47799722	MSH6	S580L, S278L, S450L	Mismatch repair cancer syndrome 3, Endometrial carcinoma, Lynch syndrome 5, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not provided, not specified	Conflicting interpretations of pathogenicity (Mar 21, 2023)	criteria provided, conflicting interpretations
Select item 8919850.	NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys) GRCh37: Chr2:48026630 GRCh38: Chr2:47799491	MSH6	S201C, S373C	Lynch syndrome	Likely benign (Sep 5, 2013)	reviewed by expert panel
Select item 4247251.	NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter) GRCh37: Chr2:48033780 GRCh38: Chr2:47806641	MSH6	R1331, R1029, R1201*	Lynch syndrome	Pathogenic (Sep 5, 2013)	reviewed by expert panel
Select item 4247152.	NM_000179.3(MSH6):c.3438+14A>T GRCh37: Chr2:48030838 GRCh38: Chr2:47803699	MSH6		Lynch syndrome	Benign (Sep 5, 2013)	reviewed by expert panel
Select item 4158853.	NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) GRCh37: Chr2:48026648 GRCh38: Chr2:47799509	MSH6	V509A, V207A, V379A	Lynch syndrome	Likely benign (Sep 5, 2013)	reviewed by expert panel
Select item 3659954.	NM_000179.3(MSH6):c.642C>T (p.Tyr214=) GRCh37: Chr2:48025764 GRCh38: Chr2:47798625	MSH6		Lynch syndrome	Benign (Sep 5, 2013)	reviewed by expert panel
Select item 3659755.	NM_000179.3(MSH6):c.540T>C (p.Asp180=) GRCh37: Chr2:48023115 GRCh38: Chr2:47795976	MSH6		Lynch syndrome	Benign (Sep 5, 2013)	reviewed by expert panel
Select item 893256.	NM_000179.3(MSH6):c.651dup (p.Lys218Ter) GRCh37: Chr2:48025772-48025773 GRCh38: Chr2:47798633-47798634	MSH6	K88, K218	Lynch syndrome	Pathogenic (Sep 5, 2013)	reviewed by expert panel
Select item 893157.	NM_000179.3(MSH6):c.2633T>C (p.Val878Ala) GRCh37: Chr2:48027755 GRCh38: Chr2:47800616	MSH6	V878A, V576A, V748A	Lynch syndrome	Benign (Sep 5, 2013)	reviewed by expert panel

ClinVar

Result Filters

Clinical significance

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 57