C1333990[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 90682	NM_000251.3(MSH2):c.14C>A (p.Pro5Gln)	MSH2 (P5Q)	Single nucleotide variant (missense variant +1 more)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 91068	NM_000251.3(MSH2):c.34dup (p.Glu12fs)	MSH2 (E12fs)	Duplication (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 185297	NM_000251.3(MSH2):c.80C>T (p.Pro27Leu)	MSH2 (P27L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 91177	NM_000251.3(MSH2):c.687del (p.Ala230fs)	MSH2 (A230fs +1 more)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 219627	NM_000251.3(MSH2):c.748G>T (p.Gly250Ter)	MSH2 (G250* +1 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 987801	NM_000251.3(MSH2):c.866_867dup (p.Glu290fs)	MSH2 (E224fs +1 more)	Duplication (frameshift variant)	Hereditary nonpolyposis colon cancer +2 more	GPathogenic/Likely pathogenic
Select item 91235	NM_000251.3(MSH2):c.868G>T (p.Glu290Ter)	MSH2 (E290* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 127655	NM_000251.3(MSH2):c.932del (p.Asn311fs)	MSH2 (N245fs)	Deletion (frameshift variant)	Hereditary nonpolyposis colon cancer +4 more	GPathogenic
Select item 418625	NM_000251.3(MSH2):c.942+3A>G	MSH2	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colon cancer +4 more	GConflicting classifications of pathogenicity
Select item 36580	NM_000251.3(MSH2):c.942+3A>T	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome	GPathogenic
Select item 408461	NM_000251.3(MSH2):c.943-1G>T	MSH2	Single nucleotide variant (splice acceptor variant)	Hereditary nonpolyposis colon cancer +5 more	GPathogenic/Likely pathogenic
Select item 91273	NM_000251.3(MSH2):c.998G>A (p.Cys333Tyr)	MSH2 (C333Y +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1	GPathogenic
Select item 220006	NM_000251.3(MSH2):c.1023del (p.Val342fs)	MSH2 (V342fs +1 more)	Deletion (frameshift variant)	Lynch syndrome 1 +4 more	GPathogenic/Likely pathogenic
Select item 408525	NM_000251.3(MSH2):c.1175A>T (p.Lys392Met)	MSH2 (K392M +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 90804	NM_000251.3(MSH2):c.1861C>T (p.Arg621Ter)	MSH2 (R621* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 218040	NM_000251.3(MSH2):c.1862G>T (p.Arg621Leu)	MSH2 (R621L +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +4 more	GPathogenic/Likely pathogenic
Select item 90847	NM_000251.3(MSH2):c.2006-2A>G	MSH2	Single nucleotide variant (splice acceptor variant)	Lynch syndrome	GLikely pathogenic
Select item 90868	NM_000251.3(MSH2):c.2047G>A (p.Gly683Arg)	MSH2 (G683R +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GPathogenic
Select item 90909	NM_000251.3(MSH2):c.2152C>T (p.Gln718Ter)	MSH2 (Q718* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 90987	NM_000251.3(MSH2):c.2502_2508del (p.Asn835fs)	MSH2 (N835fs +1 more)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 91033	NM_000251.3(MSH2):c.2653C>T (p.Gln885Ter)	MSH2 (Q885* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome 1	GPathogenic
Select item 89534	NM_000179.3(MSH6):c.467C>G (p.Ser156Ter)	MSH6 (S156*)	Single nucleotide variant (nonsense +2 more)	Lynch syndrome	GPathogenic
Select item 183724	NM_000179.3(MSH6):c.578del (p.Leu193fs)	MSH6 (L193fs)	Deletion (frameshift variant +2 more)	Hereditary nonpolyposis colon cancer +5 more	GPathogenic/Likely pathogenic
Select item 8932	NM_000179.3(MSH6):c.651dup (p.Lys218Ter)	MSH6 (K88* +1 more)	Duplication (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 141365	NM_000179.3(MSH6):c.742del (p.Arg248fs)	MSH6 (R118fs +1 more)	Deletion (frameshift variant +1 more)	Lynch syndrome +6 more	GPathogenic
Select item 89563	NM_000179.3(MSH6):c.742C>T (p.Arg248Ter)	MSH6 (R248* +1 more)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 231103	NM_000179.3(MSH6):c.1127A>G (p.Glu376Gly)	MSH6 (E376G +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colon cancer +5 more	GConflicting classifications of pathogenicity
Select item 89174	NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer)	MSH6	Microsatellite (nonsense)	Lynch syndrome	GPathogenic
Select item 218051	NM_000179.3(MSH6):c.1168_1170delinsAA (p.Asp390fs)	MSH6 (D88fs +2 more)	Indel (frameshift variant)	not provided +5 more	GPathogenic
Select item 89178	NM_000179.3(MSH6):c.1190_1191del (p.Tyr397fs)	MSH6 (Y267fs +1 more)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 1764251	NM_000179.3(MSH6):c.1266dup (p.Leu423fs)	MSH6 (L121fs +2 more)	Duplication (frameshift variant)	Lynch syndrome 5 +3 more	GPathogenic/Likely pathogenic
Select item 183760	NM_000179.3(MSH6):c.1295T>C (p.Phe432Ser)	MSH6 (F432S +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colon cancer +6 more	GPathogenic/Likely pathogenic
Select item 89197	NM_000179.3(MSH6):c.1483C>T (p.Arg495Ter)	MSH6 (R495* +2 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 433910	NM_000179.3(MSH6):c.1571dup (p.Tyr524Ter)	MSH6 (Y222* +2 more)	Duplication (nonsense)	not provided +6 more	GPathogenic
Select item 89213	NM_000179.3(MSH6):c.1637_1638del (p.Glu546fs)	MSH6 (E416fs +2 more)	Microsatellite (frameshift variant)	Lynch syndrome	GPathogenic
Select item 89218	NM_000179.3(MSH6):c.1729C>T (p.Arg577Cys)	MSH6 (R577C +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 89220	NM_000179.3(MSH6):c.1754T>C (p.Leu585Pro)	MSH6 (L585P +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 428393	NM_000179.3(MSH6):c.1767del (p.Pro591fs)	MSH6 (P591fs +2 more)	Deletion (frameshift variant)	Hereditary nonpolyposis colon cancer +5 more	GPathogenic/Likely pathogenic
Select item 185350	NM_000179.3(MSH6):c.1772del (p.Pro591fs)	MSH6 (P289fs +2 more)	Deletion (frameshift variant)	Hereditary nonpolyposis colon cancer +4 more	GPathogenic/Likely pathogenic
Select item 410412	NM_000179.3(MSH6):c.1815_1816del (p.Lys606fs)	MSH6 (K476fs +2 more)	Deletion (frameshift variant)	Hereditary nonpolyposis colon cancer +5 more	GPathogenic
Select item 89245	NM_000179.3(MSH6):c.2057G>A (p.Gly686Asp)	MSH6 (G686D +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GLikely pathogenic
Select item 89262	NM_000179.3(MSH6):c.2194C>T (p.Arg732Ter)	MSH6 (R732* +2 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 183739	NM_000179.3(MSH6):c.2230dup (p.Glu744fs)	MSH6 (E442fs +2 more)	Duplication (frameshift variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 234448	NM_000179.3(MSH6):c.2269_2270del (p.Thr757fs)	MSH6 (T455fs +2 more)	Deletion (frameshift variant)	Hereditary nonpolyposis colorectal neoplasms +5 more	GPathogenic/Likely pathogenic
Select item 420121	NM_000179.3(MSH6):c.2690dup (p.Asn897fs)	MSH6 (N595fs +2 more)	Duplication (frameshift variant)	Endometrial carcinoma +5 more	GPathogenic
Select item 89312	NM_000179.3(MSH6):c.2731C>T (p.Arg911Ter)	MSH6 (R911* +2 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 89314	NM_000179.3(MSH6):c.2764C>T (p.Arg922Ter)	MSH6 (R922* +2 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 89330	NM_000179.3(MSH6):c.3013C>T (p.Arg1005Ter)	MSH6 (R1005* +2 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 142781	NM_000179.3(MSH6):c.3037_3041del (p.Lys1013fs)	MSH6 (K711fs +1 more)	Deletion (frameshift variant)	Endometrial carcinoma +6 more	GPathogenic
Select item 89333	NM_000179.3(MSH6):c.3037AAG[1] (p.Lys1014del)	MSH6 (K1014del +2 more)	Microsatellite (inframe_deletion)	Hereditary nonpolyposis colorectal neoplasms +6 more	GPathogenic/Likely pathogenic
Select item 89338	NM_000179.3(MSH6):c.3103C>T (p.Arg1035Ter)	MSH6 (R1035* +2 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 89339	NM_000179.3(MSH6):c.3119_3120del (p.Asn1039_Phe1040insTer)	MSH6	Deletion (nonsense)	Lynch syndrome	GPathogenic
Select item 89340	NM_000179.3(MSH6):c.3155_3156del (p.Glu1052fs)	MSH6 (E750fs +2 more)	Microsatellite (frameshift variant)	Lynch syndrome	GPathogenic
Select item 89344	NM_000179.3(MSH6):c.3172+1G>T	MSH6	Single nucleotide variant (splice donor variant +1 more)	Lynch syndrome	GLikely pathogenic
Select item 89352	NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter)	MSH6 (R1068* +2 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 41593	NM_000179.3(MSH6):c.3217C>T (p.Pro1073Ser)	MSH6 (P1073S +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GLikely benign
Select item 89357	NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys)	MSH6 (R1076C +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1	GLikely pathogenic
Select item 89391	NM_000179.3(MSH6):c.3439-2A>G	MSH6	Single nucleotide variant (splice acceptor variant)	Lynch syndrome	GLikely pathogenic
Select item 89390	NM_000179.3(MSH6):c.3439-1G>T	MSH6	Single nucleotide variant (splice acceptor variant)	Lynch syndrome	GLikely pathogenic
Select item 141918	NM_000179.3(MSH6):c.3476dup (p.Tyr1159Ter)	MSH6 (Y1159* +2 more)	Duplication (nonsense)	Endometrial carcinoma +7 more	GPathogenic/Likely pathogenic
Select item 92577	NM_000179.3(MSH6):c.3477C>A (p.Tyr1159Ter)	MSH6 (Y1159* +2 more)	Single nucleotide variant (nonsense)	Hereditary nonpolyposis colorectal neoplasms +6 more	GPathogenic/Likely pathogenic
Select item 185611	NM_000179.3(MSH6):c.3478G>A (p.Val1160Ile)	MSH6 (V1160I +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 234542	NM_000179.3(MSH6):c.3491dup (p.Cys1165fs)	MSH6 (C1165fs +2 more)	Duplication (frameshift variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 372414	NM_000179.3(MSH6):c.3573dup (p.Val1192fs)	MSH6 (V1062fs +2 more)	Duplication (frameshift variant)	Hereditary nonpolyposis colon cancer +6 more	GPathogenic
Select item 89422	NM_000179.3(MSH6):c.3577G>A (p.Glu1193Lys)	MSH6 (E1193K +2 more)	Single nucleotide variant (missense variant)	Endometrial carcinoma +6 more	GPathogenic/Likely pathogenic
Select item 36593	NM_000179.3(MSH6):c.3699_3702del (p.Lys1233fs)	MSH6 (K1103fs +1 more)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 89450	NM_000179.3(MSH6):c.3724_3726del (p.Arg1242del)	MSH6 (R940del +1 more)	Deletion (inframe_deletion)	Lynch syndrome	GLikely pathogenic
Select item 140866	NM_000179.3(MSH6):c.3725G>A (p.Arg1242His)	MSH6 (R1242H +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome +6 more	GPathogenic/Likely pathogenic
Select item 218070	NM_000179.3(MSH6):c.3744_3773del (p.His1248_Ser1257del)	MSH6	Deletion (inframe_deletion)	Hereditary nonpolyposis colorectal neoplasms +5 more	GPathogenic/Likely pathogenic
Select item 89463	NM_000179.3(MSH6):c.3799_3800del (p.Met1267fs)	MSH6 (M1267fs +2 more)	Microsatellite (frameshift variant)	Lynch syndrome	GPathogenic
Select item 89474	NM_000179.3(MSH6):c.3840_3846del (p.Glu1281fs)	MSH6 (E1151fs +1 more)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 182683	NM_000179.3(MSH6):c.3939_3940dup (p.Gln1314fs)	MSH6 (Q1012fs +2 more)	Duplication (frameshift variant)	Lynch syndrome 5 +6 more	GPathogenic/Likely pathogenic
Select item 184998	NM_000179.3(MSH6):c.3980_3983dup (p.Leu1330fs)	MSH6 (L1028fs +2 more)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +6 more	GPathogenic/Likely pathogenic
Select item 42472	NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter)	MSH6 (R1331* +2 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 186982	NM_000249.4(MLH1):c.27G>A (p.Arg9=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colon cancer +4 more	GLikely pathogenic
Select item 89992	NM_000249.4(MLH1):c.199G>A (p.Gly67Arg)	MLH1 (G67R)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GPathogenic
Select item 90116	NM_000249.4(MLH1):c.244A>G (p.Thr82Ala)	MLH1 (T82A)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 1	GLikely pathogenic
Select item 90118	NM_000249.4(MLH1):c.245C>T (p.Thr82Ile)	MLH1 (T82I)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GPathogenic
Select item 90141	NM_000249.4(MLH1):c.304G>A (p.Glu102Lys)	MLH1 (E102K)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 1	GLikely pathogenic
Select item 90151	NM_000249.4(MLH1):c.306G>T (p.Glu102Asp)	MLH1 (E102D)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 90301	NM_000249.4(MLH1):c.644A>G (p.Asn215Ser)	MLH1 (N215S +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +6 more	GConflicting classifications of pathogenicity
Select item 89718	NM_000249.4(MLH1):c.1409+1G>A	MLH1	Single nucleotide variant (splice donor variant)	Lynch syndrome	GLikely pathogenic
Select item 89727	NM_000249.4(MLH1):c.1411_1414del (p.Lys471Aspfs)	MLH1	Deletion (splice acceptor variant)	Lynch syndrome	GPathogenic
Select item 89757	NM_000249.4(MLH1):c.1517T>C (p.Val506Ala)	MLH1 (V506A +5 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +6 more	GConflicting classifications of pathogenicity
Select item 89879	NM_000249.4(MLH1):c.1758dup (p.Met587fs)	MLH1 (M346fs +5 more)	Duplication (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 89886	NM_000249.4(MLH1):c.1772_1775del (p.Asp591fs)	MLH1 (D493fs +5 more)	Deletion (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 218018	NM_000249.4(MLH1):c.1790_1791delinsATCTGGACC (p.Trp597fs)	MLH1 (W239fs +5 more)	Indel (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 89962	NM_000249.4(MLH1):c.1975C>T (p.Arg659Ter)	MLH1 (R659* +6 more)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 17099	NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr)	MLH1 (A681T +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GPathogenic
Select item 90102	NM_000249.4(MLH1):c.2252_2253dup (p.Val752fs)	MLH1 (V511fs +8 more)	Duplication (frameshift variant)	Lynch syndrome	GUncertain significance
Select item 90107	NM_000249.4(MLH1):c.2266_2269dup (p.Ter757LeuextTer?)	MLH1	Duplication (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 234604	NM_000535.7(PMS2):c.2445+1G>T	PMS2	Single nucleotide variant (splice donor variant)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 91343	NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu)	PMS2 (S815L +9 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GLikely pathogenic
Select item 9237	NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter)	PMS2 (R802* +9 more)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 91334	NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp)	PMS2 (G750D +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +6 more	GConflicting classifications of pathogenicity
Select item 142765	NM_000535.7(PMS2):c.2117del (p.Lys706fs)	PMS2 (K519fs +7 more)	Deletion (frameshift variant +1 more)	Hereditary nonpolyposis colon cancer +6 more	GPathogenic
Select item 91328	NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys)	PMS2 (E705K +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GPathogenic/Likely pathogenic
Select item 140847	NM_000535.7(PMS2):c.2095G>C (p.Asp699His)	PMS2 (D699H +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GPathogenic/Likely pathogenic
Select item 91321	NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter)	PMS2 (K647* +7 more)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 91320	NM_000535.7(PMS2):c.1927C>T (p.Gln643Ter)	PMS2 (Q643* +7 more)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic

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