ClinVar (all) for Orgtrack (Select 500189) - ClinVar - NCBI

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

Result Filters

Links from Orgtrack

Items: 1 to 100 of 1714

<< First< Prev

Page of 18

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 6915261.	NM_000251.3(MSH2):c.[2635-3C>T;2635-5T>C] GRCh37: Chr2:47709913 Chr2:47709915 GRCh38: Chr2:47482774 Chr2:47482776	MSH2, MSH2		Lynch syndrome	Likely pathogenic (Jun 21, 2019)	reviewed by expert panel
Select item 6335002.	NM_000249.4(MLH1):c.1612T>G (p.Trp538Gly) GRCh37: Chr3:37081730 GRCh38: Chr3:37040239	MLH1	W538G, W180G, W197G, W440G, W297G, W505G	Lynch syndrome	Uncertain significance (Dec 19, 2018)	reviewed by expert panel
Select item 6334993.	NM_000249.4(MLH1):c.543C>T (p.Gly181=) GRCh37: Chr3:37050394 GRCh38: Chr3:37008903	MLH1		Lynch syndrome	Pathogenic (Oct 18, 2018)	reviewed by expert panel
Select item 6334984.	NM_000249.4(MLH1):c.543C>G (p.Gly181=) GRCh37: Chr3:37050394 GRCh38: Chr3:37008903	MLH1		Lynch syndrome	Likely pathogenic (Oct 18, 2018)	reviewed by expert panel
Select item 6334975.	NM_000179.3(MSH6):c.1252T>C (p.Ser418Pro) GRCh37: Chr2:48026374 GRCh38: Chr2:47799235	MSH6	S418P, S116P, S288P	Lynch syndrome	Likely pathogenic (Oct 18, 2018)	reviewed by expert panel
Select item 6334966.	NM_000251.3(MSH2):c.2083G>A (p.Val695Met) GRCh37: Chr2:47703583 GRCh38: Chr2:47476444	MSH2	V695M, V629M	Lynch syndrome	Pathogenic (Oct 18, 2018)	reviewed by expert panel
Select item 6334957.	NM_000179.3(MSH6):c.1439T>A (p.Val480Glu) GRCh37: Chr2:48026561 GRCh38: Chr2:47799422	MSH6	V480E, V178E, V350E	Lynch syndrome	Pathogenic (Dec 19, 2018)	reviewed by expert panel
Select item 6334948.	NM_000179.3(MSH6):c.3338T>G (p.Ile1113Ser) GRCh37: Chr2:48030724 GRCh38: Chr2:47803585	MSH6	I1113S, I811S, I983S	Lynch syndrome	Uncertain significance (Dec 19, 2018)	reviewed by expert panel
Select item 6334939.	NM_000251.3(MSH2):c.2681T>G (p.Met894Arg) GRCh37: Chr2:47709964 GRCh38: Chr2:47482825	MSH2	M894R, M828R	Lynch syndrome	Likely benign (Dec 19, 2018)	reviewed by expert panel
Select item 63004610.	NM_000251.3(MSH2):c.7G>T (p.Val3Leu) GRCh37: Chr2:47630337 GRCh38: Chr2:47403198	MSH2	V3L	Lynch syndrome	Benign (Oct 18, 2018)	reviewed by expert panel
Select item 62626111.	NM_000249.3(MLH1):c.[-27C>A;85G>T] GRCh37: Chr3:37035012 Chr3:37035123 GRCh38: Chr3:36993521 Chr3:36993632	MLH1, MLH1	A29S	Lynch syndrome 1	Pathogenic (Mar 9, 2018)	reviewed by expert panel
Select item 57422012.	NM_000249.4(MLH1):c.440G>A (p.Gly147Glu) GRCh37: Chr3:37048541 GRCh38: Chr3:37007050	MLH1	G147E, G49E, G114E	Lynch syndrome	Likely pathogenic (Dec 19, 2018)	reviewed by expert panel
Select item 56117513.	NM_000179.3(MSH6):c.2234T>A (p.Ile745Asn) GRCh37: Chr2:48027356 GRCh38: Chr2:47800217	MSH6	I745N, I443N, I615N	Lynch syndrome 1	Likely pathogenic (Jun 13, 2018)	reviewed by expert panel
Select item 56117414.	NM_000179.3(MSH6):c.1445G>C (p.Arg482Pro) GRCh37: Chr2:48026567 GRCh38: Chr2:47799428	MSH6	R482P, R180P, R352P	Lynch syndrome 1	Likely pathogenic (Jun 13, 2018)	reviewed by expert panel
Select item 56117315.	NM_000251.3(MSH2):c.2635-2A>G GRCh37: Chr2:47709916 GRCh38: Chr2:47482777	MSH2		Lynch syndrome 1	Likely pathogenic (Jun 13, 2018)	reviewed by expert panel
Select item 56117216.	NM_000249.4(MLH1):c.923A>C (p.His308Pro) GRCh37: Chr3:37061839 GRCh38: Chr3:37020348	MLH1	H308P, H210P, H67P, H275P	Lynch syndrome 1	Likely pathogenic (Jun 13, 2018)	reviewed by expert panel
Select item 56117117.	NM_000251.3(MSH2):c.1046_1047delinsGC (p.Pro349Arg) GRCh37: Chr2:47643538-47643539 GRCh38: Chr2:47416399-47416400	MSH2	P283R, P349R	Lynch syndrome 1	Likely pathogenic (Jun 13, 2018)	reviewed by expert panel
Select item 56117018.	NM_000249.4(MLH1):c.117-1G>T GRCh37: Chr3:37038109 GRCh38: Chr3:36996618	MLH1		Lynch syndrome 1	Likely pathogenic (Jun 13, 2018)	reviewed by expert panel
Select item 56116919.	NM_000249.4(MLH1):c.114C>A (p.Asn38Lys) GRCh37: Chr3:37035152 GRCh38: Chr3:36993661	MLH1	N38K	Lynch syndrome 1	Likely pathogenic (Jun 13, 2018)	reviewed by expert panel
Select item 52054120.	NM_000179.3(MSH6):c.1100A>G (p.His367Arg) GRCh37: Chr2:48026222 GRCh38: Chr2:47799083	MSH6	H367R, H237R, H65R	Lynch syndrome 1	Pathogenic (Mar 9, 2018)	reviewed by expert panel
Select item 52054021.	NM_000249.4(MLH1):c.827T>G (p.Ile276Arg) GRCh37: Chr3:37059033 GRCh38: Chr3:37017542	MLH1	I276R, I35R, I243R, I178R	Lynch syndrome 1	Pathogenic (Mar 9, 2018)	reviewed by expert panel
Select item 47971222.	NM_000249.4(MLH1):c.2197C>T (p.His733Tyr) GRCh37: Chr3:37092070 GRCh38: Chr3:37050579	MLH1	H733Y, H392Y, H635Y, H664Y, H375Y, H700Y, H702Y, H492Y, H678Y	Lynch syndrome 1	Likely benign (Jun 13, 2018)	reviewed by expert panel
Select item 45548323.	NM_000251.3(MSH2):c.1344C>T (p.Ser448=) GRCh37: Chr2:47672754 GRCh38: Chr2:47445615	MSH2		Lynch syndrome 1	Likely benign (Jun 13, 2018)	reviewed by expert panel
Select item 45514124.	NM_000179.3(MSH6):c.1487G>A (p.Cys496Tyr) GRCh37: Chr2:48026609 GRCh38: Chr2:47799470	MSH6	C496Y, C366Y, C194Y	Lynch syndrome 1	Likely benign (Jun 13, 2018)	reviewed by expert panel
Select item 43919225.	NM_000251.3(MSH2):c.2251G>C (p.Gly751Arg) GRCh37: Chr2:47705451 GRCh38: Chr2:47478312	MSH2	G751R, G685R	Lynch syndrome 1	Likely pathogenic (Jun 13, 2018)	reviewed by expert panel
Select item 43385626.	NM_000249.4(MLH1):c.794G>C (p.Arg265Pro) GRCh37: Chr3:37059000 GRCh38: Chr3:37017509	MLH1	R265P, R167P, R24P, R232P	Lynch syndrome 1	Likely pathogenic (Jun 13, 2018)	reviewed by expert panel
Select item 42761127.	NM_000251.3(MSH2):c.1277-4076_1386+1819del GRCh37: Chr2:47668609-47674613 GRCh38: Chr2:47441470-47447474	MSH2		Lynch syndrome 1	Pathogenic (Apr 20, 2016)	reviewed by expert panel
Select item 42761028.	NM_000251.2(MSH2):c.1277-6224_1386+4836del GRCh37: Chr2:47666463-47677632 GRCh38: Chr2:47439324-47450493	MSH2		Lynch syndrome 1	Pathogenic (Apr 20, 2016)	reviewed by expert panel
Select item 42760929.	NM_000251.2(MSH2):c.1277-6284_1386+4776del GRCh37: Chr2:47666403-47677572 GRCh38: Chr2:47439264-47450433	MSH2		Lynch syndrome 1	Pathogenic (Apr 20, 2016)	reviewed by expert panel
Select item 42760330.	NM_000251.3(MSH2):c.1979A>G (p.Asp660Gly) GRCh37: Chr2:47702383 GRCh38: Chr2:47475244	MSH2	D660G, D594G	Lynch syndrome	Likely pathogenic (Jun 21, 2019)	reviewed by expert panel
Select item 42760231.	NM_000251.3(MSH2):c.1667T>G (p.Leu556Trp) GRCh37: Chr2:47698109 GRCh38: Chr2:47470970	MSH2	L556W, L490W	Lynch syndrome 1	Likely pathogenic (Mar 9, 2018)	reviewed by expert panel
Select item 41903732.	NM_000179.3(MSH6):c.1615CTT[1] (p.Leu540del) GRCh37: Chr2:48026736-48026738 GRCh38: Chr2:47799597-47799599	MSH6	L540del, L410del, L238del	Lynch syndrome	Pathogenic (Oct 18, 2018)	reviewed by expert panel
Select item 41051433.	NM_000179.3(MSH6):c.2765G>A (p.Arg922Gln) GRCh37: Chr2:48027887 GRCh38: Chr2:47800748	MSH6	R922Q, R620Q, R792Q	Lynch syndrome	Likely benign (Dec 19, 2018)	reviewed by expert panel
Select item 41043634.	NM_000179.3(MSH6):c.3188T>G (p.Leu1063Arg) GRCh37: Chr2:48030574 GRCh38: Chr2:47803435	MSH6	L1063R, L761R, L933R	Lynch syndrome 1	Pathogenic (Mar 9, 2018)	reviewed by expert panel
Select item 23738235.	NM_000251.3(MSH2):c.213A>G (p.Gly71=) GRCh37: Chr2:47635541 GRCh38: Chr2:47408402	MSH2		Lynch syndrome 1	Likely benign (Jun 13, 2018)	reviewed by expert panel
Select item 23731636.	NM_000249.4(MLH1):c.1652A>G (p.Asn551Ser) GRCh37: Chr3:37081770 GRCh38: Chr3:37040279	MLH1	N551S, N193S, N310S, N453S, N518S, N210S	Lynch syndrome	Benign (Oct 18, 2018)	reviewed by expert panel
Select item 23462237.	NM_000179.3(MSH6):c.2906A>G (p.Tyr969Cys) GRCh37: Chr2:48028028 GRCh38: Chr2:47800889	MSH6	Y969C, Y667C, Y839C	Lynch syndrome 1	Likely pathogenic (Mar 9, 2018)	reviewed by expert panel
Select item 23295438.	NM_000179.3(MSH6):c.3G>T (p.Met1Ile) GRCh37: Chr2:48010375 GRCh38: Chr2:47783236	MSH6	M1I	Lynch syndrome	Likely pathogenic (Jun 21, 2019)	reviewed by expert panel
Select item 23260339.	NM_000249.4(MLH1):c.306G>A (p.Glu102=) GRCh37: Chr3:37042544 GRCh38: Chr3:37001053	MLH1		Lynch syndrome 1	Uncertain significance (Jun 13, 2018)	reviewed by expert panel
Select item 23059540.	NM_000249.4(MLH1):c.931A>G (p.Lys311Glu) GRCh37: Chr3:37061847 GRCh38: Chr3:37020356	MLH1	K311E, K213E, K278E, K70E	Lynch syndrome 1	Likely pathogenic (Mar 9, 2018)	reviewed by expert panel
Select item 22044841.	NM_000251.3(MSH2):c.164G>A (p.Arg55Gln) GRCh37: Chr2:47630494 GRCh38: Chr2:47403355	MSH2	R55Q	Lynch syndrome	Likely benign (Dec 19, 2018)	reviewed by expert panel
Select item 22018642.	NM_000249.4(MLH1):c.438A>G (p.Gln146=) GRCh37: Chr3:37048539 GRCh38: Chr3:37007048	MLH1		Lynch syndrome	Likely benign (Oct 18, 2018)	reviewed by expert panel
Select item 21929443.	NM_000179.3(MSH6):c.3632T>C (p.Leu1211Pro) GRCh37: Chr2:48032832 GRCh38: Chr2:47805693	MSH6	L1211P, L1081P, L909P	Lynch syndrome	Pathogenic (Jun 21, 2019)	reviewed by expert panel
Select item 21929344.	NM_000535.5:c.(1144+1_1145-1)_(2174+1_2715-1)dup	PMS2		Lynch syndrome 1	Pathogenic (Nov 24, 2015)	reviewed by expert panel
Select item 21929245.	NM_000249.4(MLH1):c.2263A>G (p.Arg755Gly) GRCh37: Chr3:37092136 GRCh38: Chr3:37050645	MLH1	R755G, R414G, R397G, R657G, R514G, R700G, R686G, R722G, R724G	Lynch syndrome 1	Pathogenic (Nov 24, 2015)	reviewed by expert panel
Select item 21929046.	NM_000249.4(MLH1):c.1676T>C (p.Leu559Pro) GRCh37: Chr3:37083767 GRCh38: Chr3:37042276	MLH1	L559P, L461P, L318P, L201P, L218P, L526P	Lynch syndrome	Likely pathogenic (Jun 21, 2019)	reviewed by expert panel
Select item 21805747.	NM_000179.3(MSH6):c.3172G>C (p.Asp1058His) GRCh37: Chr2:48028294 GRCh38: Chr2:47801155	MSH6	D1058H, D756H, D928H	Lynch syndrome	Likely pathogenic (Oct 18, 2018)	reviewed by expert panel
Select item 18811948.	NM_000251.3(MSH2):c.491G>A (p.Gly164Glu) GRCh37: Chr2:47637357 GRCh38: Chr2:47410218	MSH2	G164E, G98E	Lynch syndrome	Likely pathogenic (Nov 22, 2018)	reviewed by expert panel
Select item 18751849.	NM_000251.3(MSH2):c.2090G>A (p.Cys697Tyr) GRCh37: Chr2:47703590 GRCh38: Chr2:47476451	MSH2	C697Y, C631Y	Lynch syndrome 1	Likely pathogenic (Mar 9, 2018)	reviewed by expert panel
Select item 14285650.	NM_000249.4(MLH1):c.117-2A>G GRCh37: Chr3:37038108 GRCh38: Chr3:36996617	MLH1		Lynch syndrome	Pathogenic (Oct 18, 2018)	reviewed by expert panel
Select item 14227651.	NM_000249.4(MLH1):c.1136A>G (p.Tyr379Cys) GRCh37: Chr3:37067225 GRCh38: Chr3:37025734	MLH1	Y379C, Y138C, Y281C, Y38C, Y21C, Y346C	Lynch syndrome	Likely benign (Dec 19, 2018)	reviewed by expert panel
Select item 14105852.	NM_000179.3(MSH6):c.2300C>T (p.Thr767Ile) GRCh37: Chr2:48027422 GRCh38: Chr2:47800283	MSH6	T767I, T465I, T637I	Lynch syndrome 1	Pathogenic (Mar 9, 2018)	reviewed by expert panel
Select item 12763753.	NM_000251.3(MSH2):c.1963G>A (p.Val655Ile) GRCh37: Chr2:47702367 GRCh38: Chr2:47475228	MSH2	V655I, V589I	Lynch syndrome 1	Uncertain significance (Jun 13, 2018)	reviewed by expert panel
Select item 12762154.	NM_000249.4(MLH1):c.2074T>C (p.Ser692Pro) GRCh37: Chr3:37090479 GRCh38: Chr3:37048988	MLH1	S692P, S659P, S334P, S351P, S451P, S594P, S661P, S637P	Lynch syndrome 1	Benign (Jun 13, 2018)	reviewed by expert panel
Select item 12689255.	NM_000179.3(MSH6):c.3163G>C (p.Ala1055Pro) GRCh37: Chr2:48028285 GRCh38: Chr2:47801146	MSH6	A1055P, A753P, A925P	Lynch syndrome	Likely pathogenic (Dec 19, 2018)	reviewed by expert panel
Select item 12689156.	NM_000179.3(MSH6):c.1621A>C (p.Ser541Arg) GRCh37: Chr2:48026743 GRCh38: Chr2:47799604	MSH6	S541R, S411R, S239R	Lynch syndrome	Likely pathogenic (Jun 21, 2019)	reviewed by expert panel
Select item 9138757.	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 9138658.	NM_000535.7(PMS2):c.989-2A>G GRCh37: Chr7:6029588 GRCh38: Chr7:5989957	PMS2		Lynch syndrome	Likely pathogenic (Jun 21, 2019)	reviewed by expert panel
Select item 9138559.	NM_000535.7(PMS2):c.989-296_1144+706del GRCh37: Chr7:6028725-6029882 GRCh38: Chr7:5989094-5990251	PMS2		Lynch syndrome	Pathogenic (Sep 5, 2013)	reviewed by expert panel
Select item 9138360.	NM_000535.7(PMS2):c.949C>T (p.Gln317Ter) GRCh37: Chr7:6031643 GRCh38: Chr7:5992012	PMS2	Q317, Q182, Q211, Q214, Q126, Q6	Lynch syndrome	Pathogenic (Sep 5, 2013)	reviewed by expert panel
Select item 9138261.	NM_000535.7(PMS2):c.943C>T (p.Arg315Ter) GRCh37: Chr7:6031649 GRCh38: Chr7:5992018	PMS2	R315, R209, R180, R212, R124, R4	Lynch syndrome	Pathogenic (Sep 5, 2013)	reviewed by expert panel
Select item 9138062.	NM_000535.6(PMS2):c.904-?_988+?del	PMS2		Lynch syndrome	Pathogenic (Sep 5, 2013)	reviewed by expert panel
Select item 9137963.	NM_000535.5(PMS2):c.904-?_1144+?del GRCh37: Chr7:6029431-6031688 GRCh38: Chr7:5989800-5992057	PMS2		Lynch syndrome	Pathogenic (Sep 5, 2013)	reviewed by expert panel
Select item 9137864.	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 9137765.	NM_000535.7(PMS2):c.903G>T (p.Lys301Asn) GRCh37: Chr7:6035165 GRCh38: Chr7:5995534	PMS2	K301N, K195N, K110N, K166N, K198N	Lynch syndrome	Likely pathogenic (Jun 21, 2019)	reviewed by expert panel
Select item 9137666.	NM_000535.7(PMS2):c.862_863del (p.Gln288fs) GRCh37: Chr7:6035205-6035206 GRCh38: Chr7:5995574-5995575	PMS2	Q288fs, Q182fs, Q153fs, Q185fs, Q97fs	Lynch syndrome	Pathogenic (Sep 5, 2013)	reviewed by expert panel
Select item 9137567.	NM_000535.7(PMS2):c.861_864del (p.Arg287fs) GRCh37: Chr7:6035204-6035207 GRCh38: Chr7:5995573-5995576	PMS2	R152fs, R181fs, R184fs, R287fs, R96fs	Lynch syndrome	Pathogenic (Sep 5, 2013)	reviewed by expert panel
Select item 9137468.	NM_000535.6(PMS2):c.804-?_903+?del	PMS2		Lynch syndrome	Pathogenic (Sep 5, 2013)	reviewed by expert panel
Select item 9137369.	NM_000535.5(PMS2):c.804-?_2006+?del GRCh37: Chr7:6026390-6035264 GRCh38: Chr7:5986759-5995633	PMS2		Lynch syndrome	Pathogenic (Sep 5, 2013)	reviewed by expert panel
Select item 9137270.	NM_000535.5(PMS2):c.804-60_804-59insJN866832.1	PMS2		Lynch syndrome	Pathogenic (Sep 5, 2013)	reviewed by expert panel
Select item 9137171.	NM_000535.7(PMS2):c.804-243G>A GRCh37: Chr7:6035507 GRCh38: Chr7:5995876	PMS2		Lynch syndrome	Benign (Sep 5, 2013)	reviewed by expert panel
Select item 9136972.	NM_000535.7(PMS2):c.802dup (p.Tyr268fs) GRCh37: Chr7:6036957-6036958 GRCh38: Chr7:5997326-5997327	PMS2	Y133fs, Y162fs, Y77fs, Y268fs, Y165fs	Lynch syndrome	Pathogenic (Sep 5, 2013)	reviewed by expert panel
Select item 9136773.	NM_000535.7(PMS2):c.780del (p.Asp261fs) GRCh37: Chr7:6036980 GRCh38: Chr7:5997349	PMS2	D155fs, D70fs, D126fs, D158fs, D261fs	Lynch syndrome	Pathogenic (Sep 5, 2013)	reviewed by expert panel
Select item 9136674.	NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer) GRCh37: Chr7:6037019-6037024 GRCh38: Chr7:5997388-5997393	PMS2		Lynch syndrome	Pathogenic (Sep 5, 2013)	reviewed by expert panel
Select item 9136575.	NM_000535.6(PMS2):c.706-?_803+?del	PMS2		Lynch syndrome	Pathogenic (Sep 5, 2013)	reviewed by expert panel
Select item 9136476.	NM_000535.7(PMS2):c.705+1G>T GRCh37: Chr7:6038738 GRCh38: Chr7:5999107	PMS2		Lynch syndrome	Likely pathogenic (Jun 21, 2019)	reviewed by expert panel
Select item 9136377.	NM_000535.7(PMS2):c.703C>T (p.Gln235Ter) GRCh37: Chr7:6038741 GRCh38: Chr7:5999110	PMS2	Q235, Q100, Q129, Q132	Lynch syndrome	Pathogenic (Sep 5, 2013)	reviewed by expert panel
Select item 9136278.	NM_000535.7(PMS2):c.697C>T (p.Gln233Ter) GRCh37: Chr7:6038747 GRCh38: Chr7:5999116	PMS2	Q233, Q127, Q98, Q130	Lynch syndrome	Pathogenic (Sep 5, 2013)	reviewed by expert panel
Select item 9136079.	NM_000535.7(PMS2):c.593dup (p.Arg199fs) GRCh37: Chr7:6038850-6038851 GRCh38: Chr7:5999219-5999220	PMS2	R93fs, R96fs, R64fs, R199fs	Lynch syndrome	Pathogenic (Sep 5, 2013)	reviewed by expert panel
Select item 9135880.	NM_000535.7(PMS2):c.543del (p.Glu180_Tyr181insTer) GRCh37: Chr7:6038901 GRCh38: Chr7:5999270	PMS2		Lynch syndrome	Pathogenic (Sep 5, 2013)	reviewed by expert panel
Select item 9135781.	NM_000535.7(PMS2):c.538-478_705+456del GRCh37: Chr7:6038283-6039384 GRCh38: Chr7:5998652-5999753	PMS2		Lynch syndrome	Pathogenic (Sep 5, 2013)	reviewed by expert panel
Select item 9135682.	NM_000535.7(PMS2):c.538-223A>G GRCh37: Chr7:6039129 GRCh38: Chr7:5999498	PMS2		Lynch syndrome	Benign (Sep 5, 2013)	reviewed by expert panel
Select item 9135583.	NM_000535.7(PMS2):c.384G>A (p.Ser128=) GRCh37: Chr7:6042237 GRCh38: Chr7:6002606	PMS2		Lynch syndrome	Likely benign (Sep 5, 2013)	reviewed by expert panel
Select item 9135484.	NM_000535.6(PMS2):c.354-?_803+?del	PMS2		Lynch syndrome	Pathogenic (Sep 5, 2013)	reviewed by expert panel
Select item 9135385.	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 9135086.	NM_000535.7(PMS2):c.288C>T (p.Ala96=) GRCh37: Chr7:6043386 GRCh38: Chr7:6003755	PMS2		Lynch syndrome	Benign (Sep 5, 2013)	reviewed by expert panel
Select item 9134687.	NM_000535.7(PMS2):c.251-72A>G GRCh37: Chr7:6043495 GRCh38: Chr7:6003864	PMS2		Lynch syndrome	Benign (Sep 5, 2013)	reviewed by expert panel
Select item 9134588.	NM_000535.7(PMS2):c.251-2A>G GRCh37: Chr7:6043425 GRCh38: Chr7:6003794	PMS2		Lynch syndrome	Likely pathogenic (Jun 21, 2019)	reviewed by expert panel
Select item 9134389.	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 9134290.	NM_000535.6(PMS2):c.24-?_163+?del	PMS2		Lynch syndrome	Pathogenic (Sep 5, 2013)	reviewed by expert panel
Select item 9134191.	NM_000535.7(PMS2):c.24-12_107delinsAAAT GRCh37: Chr7:6045579-6045674 GRCh38: Chr7:6005948-6006043	PMS2		Lynch syndrome	Pathogenic (Sep 5, 2013)	reviewed by expert panel
Select item 9133892.	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 9133793.	NM_000535.7(PMS2):c.2340C>T (p.Pro780=) GRCh37: Chr7:6017324 GRCh38: Chr7:5977693	PMS2		Lynch syndrome	Benign (Sep 5, 2013)	reviewed by expert panel
Select item 9133694.	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 9133595.	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 9133396.	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 9133297.	NM_000535.7(PMS2):c.219_220dup (p.Gly74fs) GRCh37: Chr7:6043632-6043633 GRCh38: Chr7:6004001-6004002	PMS2	G74fs, W2fs	Lynch syndrome	Pathogenic (Sep 5, 2013)	reviewed by expert panel
Select item 9133198.	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 9133099.	NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs) GRCh37: Chr7:6018315-6018316 GRCh38: Chr7:5978684-5978685	PMS2	L538fs, L729fs, L542fs, L626fs, L677fs, L418fs, L594fs, L623fs	Lynch syndrome	Uncertain significance (Jun 21, 2019)	reviewed by expert panel
Select item 91329100.	NM_000535.7(PMS2):c.2174+1G>A GRCh37: Chr7:6022454 GRCh38: Chr7:5982823	PMS2		Lynch syndrome	Pathogenic (Mar 14, 2014)	reviewed by expert panel

<< First< Prev

Page of 18