"MSH6-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 152

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 89164	NM_000179.3(MSH6):c.-8C>T	MSH6	Single nucleotide variant (5 prime UTR variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 142219	NM_000179.3(MSH6):c.-2G>T	MSH6	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 183723	NM_000179.3(MSH6):c.10C>T (p.Gln4Ter)	MSH6 (Q4*)	Single nucleotide variant (nonsense +1 more)	Breast and/or ovarian cancer +8 more	GPathogenic/Likely pathogenic
Select item 428380	NM_000179.3(MSH6):c.16A>C (p.Thr6Pro)	MSH6 (T6P)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 655158	NM_000179.3(MSH6):c.23A>G (p.Tyr8Cys)	MSH6 (Y8C)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 89562	NM_000179.3(MSH6):c.73G>T (p.Ala25Ser)	MSH6 (A25S)	Single nucleotide variant (missense variant +1 more)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 185732	NM_000179.3(MSH6):c.81C>G (p.Ala27=)	MSH6	Single nucleotide variant (synonymous variant +1 more)	not specified +5 more	GBenign/Likely benign
Select item 216325	NM_000179.3(MSH6):c.94G>T (p.Gly32Cys)	MSH6 (G32C)	Single nucleotide variant (missense variant +1 more)	MSH6-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 237219	NM_000179.3(MSH6):c.98G>C (p.Arg33Pro)	MSH6 (R33P)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GUncertain significance
Select item 140779	NM_000179.3(MSH6):c.107C>T (p.Ala36Val)	MSH6 (A36V)	Single nucleotide variant (missense variant +1 more)	MSH6-related disorder +8 more	GConflicting classifications of pathogenicity
Select item 89180	NM_000179.3(MSH6):c.124C>T (p.Pro42Ser)	MSH6 (P42S)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 2629633	NM_000179.3(MSH6):c.185_186delinsCA (p.Arg62Pro)	MSH6 (A44H +1 more)	Indel (missense variant +3 more)	MSH6-related disorder	GUncertain significance
Select item 220796	NM_000179.3(MSH6):c.187T>C (p.Ser63Pro)	MSH6 (S63P)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +7 more	GConflicting classifications of pathogenicity
Select item 127567	NM_000179.3(MSH6):c.190G>C (p.Ala64Pro)	MSH6 (A64P)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 479907	NM_000179.3(MSH6):c.201C>G (p.Pro67=)	MSH6	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GLikely benign
Select item 182676	NM_000179.3(MSH6):c.321T>C (p.Pro107=)	MSH6	Single nucleotide variant (synonymous variant +2 more)	not specified +7 more	GBenign/Likely benign
Select item 237207	NM_000179.3(MSH6):c.408C>T (p.Asp136=)	MSH6	Single nucleotide variant (synonymous variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GLikely benign
Select item 824682	NM_000179.3(MSH6):c.420G>C (p.Arg140Ser)	MSH6 (R140S)	Single nucleotide variant (missense variant +2 more)	MSH6-related disorder +1 more	GUncertain significance
Select item 3061662	NM_000179.3(MSH6):c.457+27G>T	MSH6	Single nucleotide variant (intron variant)	MSH6-related disorder	GLikely benign
Select item 1167597	NM_000179.3(MSH6):c.457+32TG[9]	MSH6	Microsatellite (intron variant)	MSH6-related disorder +2 more	GBenign/Likely benign
Select item 3049139	NM_000179.3(MSH6):c.457+52_457+55del	MSH6	Deletion (intron variant)	MSH6-related disorder	GLikely benign
Select item 3031327	NM_000179.3(MSH6):c.458-20A>C	MSH6	Single nucleotide variant (5 prime UTR variant +1 more)	MSH6-related disorder	GLikely benign
Select item 142426	NM_000179.3(MSH6):c.491A>C (p.His164Pro)	MSH6 (H164P)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 89536	NM_000179.3(MSH6):c.498C>T (p.Tyr166=)	MSH6	Single nucleotide variant (synonymous variant +2 more)	Lynch syndrome +4 more	GLikely benign
Select item 1077496	NM_000179.3(MSH6):c.510T>G (p.Pro170=)	MSH6	Single nucleotide variant (synonymous variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GLikely benign
Select item 455334	NM_000179.3(MSH6):c.615A>G (p.Glu205=)	MSH6	Single nucleotide variant (synonymous variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GLikely benign
Select item 385952	NM_000179.3(MSH6):c.628-7C>T	MSH6	Single nucleotide variant (intron variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 826435	NM_000179.3(MSH6):c.648A>T (p.Thr216=)	MSH6	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 89551	NM_000179.3(MSH6):c.660A>C (p.Glu220Asp)	MSH6 (E220D +1 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GLikely benign
Select item 234629	NM_000179.3(MSH6):c.763G>A (p.Glu255Lys)	MSH6 (E255K +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GUncertain significance
Select item 182612	NM_000179.3(MSH6):c.831A>C (p.Glu277Asp)	MSH6 (E277D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 378966	NM_000179.3(MSH6):c.849G>A (p.Gly283=)	MSH6	Single nucleotide variant (synonymous variant +1 more)	MSH6-related disorder +4 more	GLikely benign
Select item 89572	NM_000179.3(MSH6):c.866_867delinsAA (p.Gly289Glu)	MSH6 (G159E +1 more)	Indel (missense variant +1 more)	Lynch syndrome 5 +8 more	GConflicting classifications of pathogenicity
Select item 822759	NM_000179.3(MSH6):c.882C>G (p.Val294=)	MSH6	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GLikely benign
Select item 127607	NM_000179.3(MSH6):c.926C>G (p.Ser309Cys)	MSH6 (S309C +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 3030406	NM_000179.3(MSH6):c.957G>T (p.Thr319=)	MSH6	Single nucleotide variant (synonymous variant +2 more)	MSH6-related disorder	GLikely benign
Select item 483793	NM_000179.3(MSH6):c.968C>G (p.Thr323Ser)	MSH6 (T323S +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 184803	NM_000179.3(MSH6):c.980C>G (p.Thr327Ser)	MSH6 (T327S +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome 5 +6 more	GConflicting classifications of pathogenicity
Select item 142244	NM_000179.3(MSH6):c.1049C>T (p.Ala350Val)	MSH6 (A350V +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 184171	NM_000179.3(MSH6):c.1053C>T (p.His351=)	MSH6	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GLikely benign
Select item 183789	NM_000179.3(MSH6):c.1068T>C (p.Gly356=)	MSH6	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +6 more	GBenign/Likely benign
Select item 237128	NM_000179.3(MSH6):c.1167C>T (p.Pro389=)	MSH6	Single nucleotide variant (synonymous variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 186238	NM_000179.3(MSH6):c.1170T>C (p.Asp390=)	MSH6	Single nucleotide variant (synonymous variant)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 483773	NM_000179.3(MSH6):c.1179A>T (p.Ala393=)	MSH6	Single nucleotide variant (synonymous variant)	Hereditary nonpolyposis colorectal neoplasms +2 more	GLikely benign
Select item 416178	NM_000179.3(MSH6):c.1188C>T (p.Leu396=)	MSH6	Single nucleotide variant (synonymous variant)	MSH6-related disorder +4 more	GLikely benign
Select item 1754362	NM_000179.3(MSH6):c.1226G>T (p.Gly409Val)	MSH6 (G107V +8 more)	Single nucleotide variant (missense variant)	MSH6-related disorder +1 more	GUncertain significance
Select item 186190	NM_000179.3(MSH6):c.1245G>A (p.Gln415=)	MSH6	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 378967	NM_000179.3(MSH6):c.1284G>A (p.Lys428=)	MSH6	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GLikely benign
Select item 2861976	NM_000179.3(MSH6):c.1347G>C (p.Leu449=)	MSH6	Single nucleotide variant (synonymous variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GLikely benign
Select item 89191	NM_000179.3(MSH6):c.1402C>T (p.Arg468Cys)	MSH6 (R468C +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome 5 +6 more	GConflicting classifications of pathogenicity
Select item 89192	NM_000179.3(MSH6):c.1403G>A (p.Arg468His)	MSH6 (R468H +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GLikely benign
Select item 142597	NM_000179.3(MSH6):c.1471ATG[1] (p.Met492del)	MSH6 (M492del +2 more)	Microsatellite (inframe_deletion)	Lynch syndrome +5 more	GUncertain significance
Select item 483792	NM_000179.3(MSH6):c.1481C>T (p.Ala494Val)	MSH6 (A494V +2 more)	Single nucleotide variant (missense variant)	Endometrial carcinoma +3 more	GConflicting classifications of pathogenicity
Select item 232251	NM_000179.3(MSH6):c.1501C>T (p.His501Tyr)	MSH6 (H501Y +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome +3 more	GConflicting classifications of pathogenicity
Select item 230978	NM_000179.3(MSH6):c.1519dup (p.Arg507fs)	MSH6 (R377fs +2 more)	Duplication (frameshift variant)	Hereditary nonpolyposis colorectal neoplasms +4 more	GPathogenic
Select item 41588	NM_000179.3(MSH6):c.1526T>C (p.Val509Ala)	MSH6 (V509A +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GLikely benign
Select item 140961	NM_000179.3(MSH6):c.1634_1635del (p.Lys545fs)	MSH6 (K243fs +2 more)	Deletion (frameshift variant)	MSH6-related disorder +6 more	GPathogenic/Likely pathogenic
Select item 183072	NM_000179.3(MSH6):c.1668T>C (p.Tyr556=)	MSH6	Single nucleotide variant (synonymous variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 219570	NM_000179.3(MSH6):c.1674G>A (p.Val558=)	MSH6	Single nucleotide variant (synonymous variant)	Hereditary nonpolyposis colorectal neoplasms +4 more	GLikely benign
Select item 219551	NM_000179.3(MSH6):c.1691C>A (p.Ser564Ter)	MSH6 (S564* +2 more)	Single nucleotide variant (nonsense)	MSH6-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 89217	NM_000179.3(MSH6):c.1696G>A (p.Gly566Arg)	MSH6 (G566R +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome 5 +5 more	GConflicting classifications of pathogenicity
Select item 237143	NM_000179.3(MSH6):c.1740G>A (p.Ser580=)	MSH6	Single nucleotide variant (synonymous variant)	Hereditary nonpolyposis colorectal neoplasms +6 more	GBenign/Likely benign
Select item 89220	NM_000179.3(MSH6):c.1754T>C (p.Leu585Pro)	MSH6 (L585P +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome 5 +7 more	GConflicting classifications of pathogenicity
Select item 183715	NM_000179.3(MSH6):c.1776A>T (p.Val592=)	MSH6	Single nucleotide variant (synonymous variant)	Lynch syndrome 5 +6 more	GBenign/Likely benign
Select item 410412	NM_000179.3(MSH6):c.1815_1816del (p.Lys606fs)	MSH6 (K476fs +2 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +6 more	GPathogenic
Select item 184240	NM_000179.3(MSH6):c.1827A>G (p.Leu609=)	MSH6	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GLikely benign
Select item 182678	NM_000179.3(MSH6):c.1842del (p.Cys615fs)	MSH6 (C313fs +2 more)	Deletion (frameshift variant)	Lynch syndrome 5 +4 more	GPathogenic
Select item 234483	NM_000179.3(MSH6):c.1858G>A (p.Gly620Ser)	MSH6 (G620S +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 41590	NM_000179.3(MSH6):c.1867C>G (p.Pro623Ala)	MSH6 (P623A +2 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 185463	NM_000179.3(MSH6):c.1915G>A (p.Glu639Lys)	MSH6 (E639K +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 89233	NM_000179.3(MSH6):c.1932G>C (p.Arg644Ser)	MSH6 (R644S +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome 5 +6 more	GConflicting classifications of pathogenicity
Select item 491889	NM_000179.3(MSH6):c.1961T>C (p.Met654Thr)	MSH6 (M654T +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +3 more	GConflicting classifications of pathogenicity
Select item 517315	NM_000179.3(MSH6):c.1993G>T (p.Glu665Ter)	MSH6 (E665* +2 more)	Single nucleotide variant (nonsense)	MSH6-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 512303	NM_000179.3(MSH6):c.2010G>A (p.Gly670=)	MSH6	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 428348	NM_000179.3(MSH6):c.2087_2093del (p.Ile696fs)	MSH6 (I394fs +2 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 141078	NM_000179.3(MSH6):c.2105C>T (p.Ser702Leu)	MSH6 (S702L +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 381735	NM_000179.3(MSH6):c.2169T>C (p.Gly723=)	MSH6	Single nucleotide variant (synonymous variant)	Hereditary nonpolyposis colorectal neoplasms +3 more	GLikely benign
Select item 182664	NM_000179.3(MSH6):c.2187C>A (p.Ala729=)	MSH6	Single nucleotide variant (synonymous variant)	Breast and/or ovarian cancer +5 more	GBenign/Likely benign
Select item 183739	NM_000179.3(MSH6):c.2230dup (p.Glu744fs)	MSH6 (E442fs +2 more)	Duplication (frameshift variant)	Hereditary nonpolyposis colon cancer +7 more	GPathogenic/Likely pathogenic
Select item 220247	NM_000179.3(MSH6):c.2241G>A (p.Leu747=)	MSH6	Single nucleotide variant (synonymous variant)	Hereditary nonpolyposis colorectal neoplasms +6 more	GBenign/Likely benign
Select item 233180	NM_000179.3(MSH6):c.2347T>A (p.Cys783Ser)	MSH6 (C783S +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +6 more	GConflicting classifications of pathogenicity
Select item 89280	NM_000179.3(MSH6):c.2400T>C (p.Val800=)	MSH6	Single nucleotide variant (synonymous variant)	Lynch syndrome 5 +6 more	GBenign/Likely benign
Select item 140892	NM_000179.3(MSH6):c.2482G>A (p.Val828Ile)	MSH6 (V828I +2 more)	Single nucleotide variant (missense variant)	MSH6-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 231388	NM_000179.3(MSH6):c.2493C>T (p.Pro831=)	MSH6	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 183929	NM_000179.3(MSH6):c.2508C>T (p.Asn836=)	MSH6	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 89289	NM_000179.3(MSH6):c.2561A>T (p.Lys854Met)	MSH6 (K854M +2 more)	Single nucleotide variant (missense variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 89291	NM_000179.3(MSH6):c.2597A>C (p.Lys866Thr)	MSH6 (K866T +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 237168	NM_000179.3(MSH6):c.2830A>G (p.Ile944Val)	MSH6 (I944V +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 182680	NM_000179.3(MSH6):c.2832_2833del (p.Ile944fs)	MSH6 (I944fs +2 more)	Deletion (frameshift variant)	not provided +5 more	GPathogenic
Select item 525925	NM_000179.3(MSH6):c.2871A>G (p.Lys957=)	MSH6	Single nucleotide variant (synonymous variant)	Hereditary nonpolyposis colorectal neoplasms +3 more	GLikely benign
Select item 89321	NM_000179.3(MSH6):c.2906A>C (p.Tyr969Ser)	MSH6 (Y969S +2 more)	Single nucleotide variant (missense variant)	Endometrial carcinoma +5 more	GConflicting classifications of pathogenicity
Select item 182665	NM_000179.3(MSH6):c.2925C>T (p.Asn975=)	MSH6	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +7 more	GBenign/Likely benign
Select item 237171	NM_000179.3(MSH6):c.2932C>G (p.Gln978Glu)	MSH6 (Q978E +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 141326	NM_000179.3(MSH6):c.2964dup (p.Asn989fs)	MSH6 (N687fs +2 more)	Duplication (frameshift variant)	not provided +3 more	GPathogenic
Select item 220098	NM_000179.3(MSH6):c.3012A>G (p.Lys1004=)	MSH6	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 1108340	NM_000179.3(MSH6):c.3013C>A (p.Arg1005=)	MSH6	Single nucleotide variant (synonymous variant)	Hereditary nonpolyposis colorectal neoplasms +3 more	GLikely benign
Select item 135838	NM_000179.3(MSH6):c.3024C>T (p.Thr1008=)	MSH6	Single nucleotide variant (synonymous variant)	MSH6-related disorder +7 more	GBenign/Likely benign
Select item 2630769	NM_000179.3(MSH6):c.3076del (p.Asp1026fs)	MSH6 (D1000fs +9 more)	Deletion (frameshift variant +2 more)	MSH6-related disorder	GPathogenic
Select item 428312	NM_000179.3(MSH6):c.3088A>T (p.Lys1030Ter)	MSH6 (K1030* +2 more)	Single nucleotide variant (nonsense)	Lynch syndrome 5 +5 more	GPathogenic/Likely pathogenic
Select item 135839	NM_000179.3(MSH6):c.3151G>A (p.Val1051Ile)	MSH6 (V1051I +2 more)	Single nucleotide variant (missense variant)	MSH6-related disorder +7 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 2