C1833477[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 183723	NM_000179.3(MSH6):c.10C>T (p.Gln4Ter)	MSH6 (Q4*)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome 5 +7 more	GPathogenic/Likely pathogenic
Select item 141885	NM_000179.3(MSH6):c.34C>A (p.Pro12Thr)	MSH6 (P12T)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 36596	NM_000179.3(MSH6):c.38A>C (p.Lys13Thr)	MSH6 (K13T)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 5 +6 more	GUncertain significance
Select item 216318	NM_000179.3(MSH6):c.41C>T (p.Ser14Phe)	MSH6 (S14F)	Single nucleotide variant (missense variant +1 more)	Breast and/or ovarian cancer +6 more	GConflicting classifications of pathogenicity
Select item 455333	NM_000179.3(MSH6):c.58dup (p.Ala20fs)	MSH6 (A20fs)	Duplication (frameshift variant +1 more)	Lynch syndrome 5 +3 more	GPathogenic/Likely pathogenic
Select item 485853	NM_000179.3(MSH6):c.61A>G (p.Asn21Asp)	MSH6 (N21D)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 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)	Endometrial carcinoma +6 more	GConflicting classifications of pathogenicity
Select item 410435	NM_000179.3(MSH6):c.104C>T (p.Ala35Val)	MSH6 (A35V)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +6 more	GConflicting classifications of pathogenicity
Select item 2673645	NM_000179.3(MSH6):c.136_158del (p.Gly46fs)	MSH6 (G46fs +1 more)	Deletion (frameshift variant +3 more)	Endometrial carcinoma +1 more	GPathogenic/Likely pathogenic
Select item 216296	NM_000179.3(MSH6):c.136G>C (p.Gly46Arg)	MSH6 (G46R)	Single nucleotide variant (missense variant +1 more)	Endometrial carcinoma +5 more	GConflicting classifications of pathogenicity
Select item 428328	NM_000179.3(MSH6):c.154G>T (p.Glu52Ter)	MSH6 (E52*)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 439201	NM_000179.3(MSH6):c.184C>T (p.Arg62Cys)	MSH6 (R62C)	Single nucleotide variant (missense variant +1 more)	Mismatch repair cancer syndrome 1 +5 more	GUncertain significance
Select item 220796	NM_000179.3(MSH6):c.187T>C (p.Ser63Pro)	MSH6 (S63P)	Single nucleotide variant (missense variant +1 more)	Endometrial carcinoma +6 more	GConflicting classifications of pathogenicity
Select item 410430	NM_000179.3(MSH6):c.188C>G (p.Ser63Cys)	MSH6 (S63C)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 127566	NM_000179.3(MSH6):c.188C>A (p.Ser63Tyr)	MSH6 (S63Y)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 480915	NM_000179.3(MSH6):c.220G>T (p.Gly74Ter)	MSH6 (G74*)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome 5 +4 more	GPathogenic
Select item 127571	NM_000179.3(MSH6):c.242C>T (p.Ala81Val)	MSH6 (A81V)	Single nucleotide variant (missense variant +2 more)	Endometrial carcinoma +4 more	GConflicting classifications of pathogenicity
Select item 548802	NM_000179.3(MSH6):c.254CCA[1] (p.Thr86del)	LOC129933707, MSH6 (T86del)	Microsatellite (inframe_deletion +2 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 480918	NM_000179.3(MSH6):c.257C>T (p.Thr86Ile)	LOC129933707, MSH6 (T86I)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 428411	NM_000179.3(MSH6):c.356dup (p.Ile120fs)	MSH6 (I120fs)	Duplication (frameshift variant +2 more)	Endometrial carcinoma +4 more	GPathogenic/Likely pathogenic
Select item 229725	NM_000179.3(MSH6):c.359T>C (p.Ile120Thr)	MSH6 (I120T)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 219881	NM_000179.3(MSH6):c.361C>T (p.Arg121Cys)	MSH6 (R121C)	Single nucleotide variant (missense variant +2 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 427607	NM_000179.3(MSH6):c.362G>A (p.Arg121His)	MSH6 (R121H)	Single nucleotide variant (missense variant +2 more)	Endometrial carcinoma +7 more	GConflicting classifications of pathogenicity
Select item 89473	NM_000179.3(MSH6):c.383G>T (p.Arg128Leu)	MSH6 (R128L)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +7 more	GUncertain significance
Select item 185466	NM_000179.3(MSH6):c.397_410del (p.Phe133fs)	MSH6 (F133fs)	Deletion (frameshift variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 89519	NM_000179.3(MSH6):c.426G>A (p.Trp142Ter)	MSH6 (W142*)	Single nucleotide variant (nonsense +2 more)	Lynch syndrome	GPathogenic
Select item 410397	NM_000179.3(MSH6):c.442_443del (p.Leu148fs)	MSH6 (L148fs)	Deletion (frameshift variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
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 182656	NM_000179.3(MSH6):c.532C>T (p.Arg178Cys)	MSH6 (R178C)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +7 more	GConflicting classifications of pathogenicity
Select item 188269	NM_000179.3(MSH6):c.533G>A (p.Arg178His)	MSH6 (R178H)	Single nucleotide variant (missense variant +2 more)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 422416	NM_000179.3(MSH6):c.552_555del (p.Asn184fs)	MSH6 (N184fs)	Microsatellite (frameshift variant +2 more)	Lynch syndrome 5 +4 more	GPathogenic/Likely pathogenic
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 525808	NM_000179.3(MSH6):c.589G>C (p.Asp197His)	MSH6 (D197H)	Single nucleotide variant (missense variant +2 more)	Endometrial carcinoma +5 more	GConflicting classifications of pathogenicity
Select item 234621	NM_000179.3(MSH6):c.599C>G (p.Ser200Ter)	MSH6 (S200*)	Single nucleotide variant (nonsense +2 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GPathogenic
Select item 142490	NM_000179.3(MSH6):c.622A>G (p.Met208Val)	MSH6 (M208V)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 5 +6 more	GUncertain significance
Select item 231285	NM_000179.3(MSH6):c.637A>C (p.Thr213Pro)	MSH6 (T213P +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 216321	NM_000179.3(MSH6):c.643G>A (p.Val215Ile)	MSH6 (V215I +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 8932	NM_000179.3(MSH6):c.651dup (p.Lys218Ter)	MSH6 (K88* +1 more)	Duplication (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 127604	NM_000179.3(MSH6):c.682G>A (p.Glu228Lys)	MSH6 (E228K +1 more)	Single nucleotide variant (missense variant +1 more)	Endometrial carcinoma +5 more	GConflicting classifications of pathogenicity
Select item 857299	NM_000179.3(MSH6):c.688del (p.Glu230fs)	MSH6 (E230fs +1 more)	Deletion (frameshift variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GPathogenic/Likely pathogenic
Select item 89556	NM_000179.3(MSH6):c.694C>T (p.Gln232Ter)	MSH6 (Q232* +1 more)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 479961	NM_000179.3(MSH6):c.698dup (p.Pro233_Lys234insTer)	MSH6	Duplication (frameshift variant +1 more)	Lynch syndrome 5 +2 more	GPathogenic/Likely pathogenic
Select item 142525	NM_000179.3(MSH6):c.698C>G (p.Pro233Arg)	MSH6 (P233R +1 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +5 more	GConflicting classifications of pathogenicity
Select item 142508	NM_000179.3(MSH6):c.713C>A (p.Ser238Tyr)	MSH6 (S238Y +1 more)	Single nucleotide variant (missense variant +1 more)	Endometrial carcinoma +6 more	GConflicting classifications of pathogenicity
Select item 89559	NM_000179.3(MSH6):c.718C>T (p.Arg240Ter)	MSH6 (R240* +1 more)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 230984	NM_000179.3(MSH6):c.719G>A (p.Arg240Gln)	MSH6 (R240Q +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 142675	NM_000179.3(MSH6):c.727C>T (p.Arg243Cys)	MSH6 (R243C +1 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +7 more	GConflicting classifications of pathogenicity
Select item 410494	NM_000179.3(MSH6):c.741dup (p.Arg248fs)	MSH6 (R118fs +1 more)	Duplication (frameshift variant +1 more)	Lynch syndrome 5 +4 more	GPathogenic/Likely pathogenic
Select item 944031	NM_000179.3(MSH6):c.738_741del (p.Lys246fs)	MSH6 (K246fs +1 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 237213	NM_000179.3(MSH6):c.741del (p.Lys247fs)	MSH6 (K117fs +1 more)	Deletion (frameshift variant +1 more)	not provided +5 more	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 140780	NM_000179.3(MSH6):c.749T>C (p.Val250Ala)	MSH6 (V250A +1 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +7 more	GConflicting classifications of pathogenicity
Select item 89564	NM_000179.3(MSH6):c.751A>G (p.Ile251Val)	MSH6 (I251V +1 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 5 +5 more	GConflicting classifications of pathogenicity
Select item 428309	NM_000179.3(MSH6):c.766_767del (p.Glu255_Ser256insTer)	MSH6	Microsatellite (nonsense +1 more)	Endometrial carcinoma +3 more	GPathogenic/Likely pathogenic
Select item 185923	NM_000179.3(MSH6):c.772A>G (p.Ile258Val)	MSH6 (I258V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 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)	Lynch syndrome 5 +8 more	GConflicting classifications of pathogenicity
Select item 2673708	NM_000179.3(MSH6):c.845_848dup (p.Asp284fs)	MSH6 (D109fs +7 more)	Duplication (frameshift variant +3 more)	Lynch syndrome 5 +2 more	GPathogenic/Likely pathogenic
Select item 89570	NM_000179.3(MSH6):c.845dup (p.Asp284fs)	MSH6 (D154fs +1 more)	Duplication (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 379469	NM_000179.3(MSH6):c.856G>T (p.Glu286Ter)	MSH6 (E286* +1 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 89572	NM_000179.3(MSH6):c.866_867delinsAA (p.Gly289Glu)	MSH6 (G159E +1 more)	Indel (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +7 more	GConflicting classifications of pathogenicity
Select item 428369	NM_000179.3(MSH6):c.878_883delinsTTCG (p.Pro293fs)	MSH6 (P163fs +1 more)	Indel (frameshift variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 89574	NM_000179.3(MSH6):c.892C>T (p.Arg298Ter)	MSH6 (R298* +1 more)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 1450135	NM_000179.3(MSH6):c.900del (p.Lys301fs)	MSH6 (K171fs +1 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 822901	NM_000179.3(MSH6):c.901A>T (p.Lys301Ter)	MSH6 (K171* +1 more)	Single nucleotide variant (nonsense +1 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GPathogenic/Likely pathogenic
Select item 230518	NM_000179.3(MSH6):c.972A>C (p.Lys324Asn)	MSH6 (K324N +2 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 186304	NM_000179.3(MSH6):c.989C>A (p.Ser330Ter)	MSH6 (S330* +2 more)	Single nucleotide variant (nonsense)	Lynch syndrome 5 +3 more	GPathogenic
Select item 336441	NM_000179.3(MSH6):c.997A>G (p.Thr333Ala)	MSH6 (T333A +2 more)	Single nucleotide variant (missense variant)	Endometrial carcinoma +5 more	GUncertain significance
Select item 410503	NM_000179.3(MSH6):c.999del (p.Lys334fs)	MSH6 (K334fs +2 more)	Deletion (frameshift variant)	Endometrial carcinoma +3 more	GPathogenic/Likely pathogenic
Select item 141751	NM_000179.3(MSH6):c.998C>T (p.Thr333Ile)	MSH6 (T333I +2 more)	Single nucleotide variant (missense variant)	Endometrial carcinoma +4 more	GConflicting classifications of pathogenicity
Select item 2673724	NM_000179.3(MSH6):c.1010dup (p.Leu337fs)	MSH6 (L162fs +8 more)	Duplication (frameshift variant +2 more)	Lynch syndrome 5 +1 more	GPathogenic/Likely pathogenic
Select item 89168	NM_000179.3(MSH6):c.1082G>A (p.Arg361His)	MSH6 (R361H +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 127554	NM_000179.3(MSH6):c.1106C>T (p.Thr369Ile)	MSH6 (T369I +2 more)	Single nucleotide variant (missense variant)	Endometrial carcinoma +6 more	GConflicting classifications of pathogenicity
Select item 428346	NM_000179.3(MSH6):c.1115G>A (p.Trp372Ter)	MSH6 (W372* +2 more)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 141328	NM_000179.3(MSH6):c.1120_1122del (p.Lys374del)	MSH6 (K374del +2 more)	Deletion (inframe_deletion)	Endometrial carcinoma +6 more	GUncertain significance
Select item 89174	NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer)	MSH6	Microsatellite (nonsense)	Lynch syndrome	GPathogenic
Select item 89176	NM_000179.3(MSH6):c.1144C>T (p.His382Tyr)	MSH6 (H382Y +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 219569	NM_000179.3(MSH6):c.1162C>G (p.His388Asp)	MSH6 (H388D +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome 5 +5 more	GConflicting classifications of pathogenicity
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 182620	NM_000179.3(MSH6):c.1190A>G (p.Tyr397Cys)	MSH6 (Y397C +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome 5 +8 more	GConflicting classifications of pathogenicity
Select item 1709829	NM_000179.3(MSH6):c.1248del (p.Lys417fs)	MSH6 (K115fs +2 more)	Deletion (frameshift variant)	Endometrial carcinoma +2 more	GPathogenic/Likely pathogenic
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 410450	NM_000179.3(MSH6):c.1270G>A (p.Val424Ile)	MSH6 (V424I +2 more)	Single nucleotide variant (missense variant)	Endometrial carcinoma +5 more	GUncertain significance
Select item 946768	NM_000179.3(MSH6):c.1281C>A (p.Tyr427Ter)	MSH6 (Y297* +2 more)	Single nucleotide variant (nonsense)	Hereditary nonpolyposis colorectal neoplasms +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 428379	NM_000179.3(MSH6):c.1299T>G (p.Tyr433Ter)	MSH6 (Y433* +2 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 89186	NM_000179.3(MSH6):c.1304T>C (p.Leu435Pro)	MSH6 (L435P +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome 5 +4 more	GPathogenic/Likely pathogenic
Select item 89189	NM_000179.3(MSH6):c.1346T>C (p.Leu449Pro)	MSH6 (L449P +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GPathogenic
Select item 237133	NM_000179.3(MSH6):c.1350_1351del (p.Phe451fs)	MSH6 (F321fs +2 more)	Deletion (frameshift variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 224534	NM_000179.3(MSH6):c.1352del (p.Phe451fs)	MSH6 (F149fs +1 more)	Deletion (frameshift variant)	Endometrial carcinoma +5 more	GPathogenic/Likely pathogenic
Select item 1072643	NM_000179.3(MSH6):c.1392del (p.Ile464fs)	MSH6 (I162fs +2 more)	Deletion (frameshift variant)	Endometrial carcinoma +3 more	GPathogenic/Likely pathogenic
Select item 89191	NM_000179.3(MSH6):c.1402C>T (p.Arg468Cys)	MSH6 (R468C +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome +6 more	GConflicting classifications of pathogenicity
Select item 89193	NM_000179.3(MSH6):c.1421_1422dup (p.Gln475fs)	MSH6 (Q173fs +2 more)	Duplication (frameshift variant)	Lynch syndrome	GPathogenic
Select item 428366	NM_000179.3(MSH6):c.1430dup (p.Tyr478fs)	MSH6 (Y478fs +2 more)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 89194	NM_000179.3(MSH6):c.1444C>T (p.Arg482Ter)	MSH6 (R482* +2 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 428323	NM_000179.3(MSH6):c.1449_1462delinsAGC (p.Glu484fs)	MSH6 (E182fs +2 more)	Indel (frameshift variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 428403	NM_000179.3(MSH6):c.1450G>T (p.Glu484Ter)	MSH6 (E484* +2 more)	Single nucleotide variant (nonsense)	Lynch syndrome 5 +3 more	GPathogenic/Likely pathogenic
Select item 428371	NM_000179.3(MSH6):c.1458_1459del (p.Glu487fs)	MSH6 (E185fs +2 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 89197	NM_000179.3(MSH6):c.1483C>T (p.Arg495Ter)	MSH6 (R495* +2 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic

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