C1833477[trait identifier] AND "Counsyl"[submitter] - ClinVar - NCBI

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	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)	Lynch syndrome 5 +4 more	GConflicting classifications of pathogenicity
Select item 371918	NM_000179.3(MSH6):c.-6G>C	MSH6	Single nucleotide variant (5 prime UTR variant)	Lynch syndrome 5 +3 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)	not provided +7 more	GPathogenic/Likely pathogenic
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 548796	NM_000179.3(MSH6):c.55del (p.Asp19fs)	MSH6 (D19fs)	Deletion (frameshift variant +1 more)	Lynch syndrome 5	GLikely pathogenic
Select item 89540	NM_000179.3(MSH6):c.59C>T (p.Ala20Val)	MSH6 (A20V)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1	GLikely benign
Select item 230422	NM_000179.3(MSH6):c.87C>G (p.Arg29=)	MSH6	Single nucleotide variant (synonymous variant +1 more)	not specified +4 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)	Lynch syndrome +6 more	GConflicting classifications of pathogenicity
Select item 548921	NM_000179.3(MSH6):c.102CGC[1] (p.Ala37del)	MSH6 (A37del)	Microsatellite (inframe_deletion +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 140779	NM_000179.3(MSH6):c.107C>T (p.Ala36Val)	MSH6 (A36V)	Single nucleotide variant (missense variant +1 more)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 410476	NM_000179.3(MSH6):c.115G>C (p.Gly39Arg)	MSH6 (G39R)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 455121	NM_000179.3(MSH6):c.118G>A (p.Ala40Thr)	MSH6 (A40T)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 487428	NM_000179.3(MSH6):c.125_132dup (p.Gly45fs)	MSH6 (G45fs)	Duplication (frameshift variant +1 more)	Lynch syndrome 5	GPathogenic/Likely pathogenic
Select item 89180	NM_000179.3(MSH6):c.124C>T (p.Pro42Ser)	MSH6 (P42S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 219577	NM_000179.3(MSH6):c.136G>A (p.Gly46Arg)	MSH6 (G46R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 548780	NM_000179.3(MSH6):c.150G>T (p.Trp50Cys)	MSH6 (W50C)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 5	GUncertain significance
Select item 89208	NM_000179.3(MSH6):c.161G>C (p.Gly54Ala)	MSH6 (G54A)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GLikely benign
Select item 135832	NM_000179.3(MSH6):c.178T>C (p.Leu60=)	MSH6	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 220796	NM_000179.3(MSH6):c.187T>C (p.Ser63Pro)	MSH6 (S63P)	Single nucleotide variant (missense variant +1 more)	not specified +6 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 548795	NM_000179.3(MSH6):c.215_258del (p.Leu72fs)	LOC129933707, MSH6 (L72fs)	Deletion (frameshift variant +2 more)	Lynch syndrome 5	GPathogenic/Likely pathogenic
Select item 219856	NM_000179.3(MSH6):c.240A>G (p.Val80=)	MSH6	Single nucleotide variant (synonymous variant +2 more)	Lynch syndrome 5 +5 more	GConflicting classifications of pathogenicity
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 229968	NM_000179.3(MSH6):c.249T>G (p.Ala83=)	LOC129933707, MSH6	Single nucleotide variant (synonymous variant +2 more)	Lynch syndrome 5 +3 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 89288	NM_000179.3(MSH6):c.255C>A (p.Pro85=)	LOC129933707, MSH6	Single nucleotide variant (synonymous variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GBenign/Likely benign
Select item 548753	NM_000179.3(MSH6):c.260+15del	LOC129933707, MSH6	Deletion (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 220279	NM_000179.3(MSH6):c.267C>G (p.Asp89Glu)	MSH6 (D89E)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 5 +4 more	GConflicting classifications of pathogenicity
Select item 548749	NM_000179.3(MSH6):c.309C>A (p.Tyr103Ter)	MSH6 (Y103*)	Single nucleotide variant (nonsense +2 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 182676	NM_000179.3(MSH6):c.321T>C (p.Pro107=)	MSH6	Single nucleotide variant (synonymous variant +2 more)	Breast and/or ovarian cancer +6 more	GBenign/Likely benign
Select item 186204	NM_000179.3(MSH6):c.333C>T (p.Tyr111=)	MSH6	Single nucleotide variant (synonymous variant +2 more)	not provided +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)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 89428	NM_000179.3(MSH6):c.363C>T (p.Arg121=)	MSH6	Single nucleotide variant (synonymous variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GBenign/Likely benign
Select item 182662	NM_000179.3(MSH6):c.364G>A (p.Glu122Lys)	MSH6 (E122K)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 5 +4 more	GBenign/Likely benign
Select item 186078	NM_000179.3(MSH6):c.393A>C (p.Val131=)	MSH6	Single nucleotide variant (synonymous variant +2 more)	not provided +5 more	GBenign/Likely benign
Select item 372072	NM_000179.3(MSH6):c.457+19_457+20del	MSH6	Deletion (intron variant)	Hereditary nonpolyposis colorectal neoplasms +3 more	GBenign/Likely benign
Select item 89527	NM_000179.3(MSH6):c.457+32TG[12]	MSH6	Microsatellite (intron variant)	Lynch syndrome 5 +2 more	GConflicting classifications of pathogenicity
Select item 89526	NM_000179.3(MSH6):c.457+52T>A	MSH6	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 89530	NM_000179.3(MSH6):c.458-17A>G	MSH6	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 548843	NM_000179.3(MSH6):c.458-13C>G	MSH6	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
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 142426	NM_000179.3(MSH6):c.491A>C (p.His164Pro)	MSH6 (H164P)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 5 +4 more	GConflicting classifications of pathogenicity
Select item 185008	NM_000179.3(MSH6):c.503C>G (p.Ala168Gly)	MSH6 (A168G)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 216319	NM_000179.3(MSH6):c.521G>A (p.Arg174Lys)	MSH6 (R174K)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
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 141525	NM_000179.3(MSH6):c.535G>T (p.Ala179Ser)	MSH6 (A179S)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 5 +2 more	GUncertain significance
Select item 387121	NM_000179.3(MSH6):c.628-12C>T	MSH6	Single nucleotide variant (intron variant)	not provided +5 more	GLikely benign
Select item 135843	NM_000179.3(MSH6):c.628-7C>A	MSH6	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
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 142305	NM_000179.3(MSH6):c.650A>G (p.Asp217Gly)	MSH6 (D217G +1 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +5 more	GConflicting classifications of pathogenicity
Select item 141475	NM_000179.3(MSH6):c.677A>G (p.Glu226Gly)	MSH6 (E226G +1 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +3 more	GConflicting classifications of pathogenicity
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 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)	not specified +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 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 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 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 89573	NM_000179.3(MSH6):c.884A>G (p.Lys295Arg)	MSH6 (K295R +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +6 more	GConflicting classifications of pathogenicity
Select item 141122	NM_000179.3(MSH6):c.905G>C (p.Arg302Thr)	MSH6 (R302T +7 more)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome +5 more	GConflicting classifications of pathogenicity
Select item 371820	NM_000179.3(MSH6):c.908dup (p.Met303fs)	MSH6 (M173fs +2 more)	Duplication (frameshift variant +1 more)	Lynch syndrome 5 +3 more	GPathogenic/Likely pathogenic
Select item 234768	NM_000179.3(MSH6):c.910G>A (p.Val304Met)	MSH6 (V304M +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +3 more	GUncertain significance
Select item 371790	NM_000179.3(MSH6):c.941G>A (p.Ser314Asn)	MSH6 (S314N +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +2 more	GConflicting classifications of pathogenicity
Select item 230518	NM_000179.3(MSH6):c.972A>C (p.Lys324Asn)	MSH6 (K324N +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome 5 +6 more	GConflicting classifications of pathogenicity
Select item 138256	NM_000179.3(MSH6):c.984C>T (p.Ser328=)	MSH6	Single nucleotide variant (synonymous variant)	Lynch syndrome +6 more	GBenign/Likely benign
Select item 187718	NM_000179.3(MSH6):c.1037C>T (p.Ser346Phe)	MSH6 (S346F +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 182643	NM_000179.3(MSH6):c.1050C>T (p.Ala350=)	MSH6	Single nucleotide variant (synonymous variant)	Breast and/or ovarian cancer +6 more	GConflicting classifications of pathogenicity
Select item 182618	NM_000179.3(MSH6):c.1061G>T (p.Gly354Val)	MSH6 (G354V +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +6 more	GConflicting classifications of pathogenicity
Select item 134851	NM_000179.3(MSH6):c.1063G>A (p.Gly355Ser)	MSH6 (G355S +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +6 more	GConflicting classifications of pathogenicity
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 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 186238	NM_000179.3(MSH6):c.1170T>C (p.Asp390=)	MSH6	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
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 220694	NM_000179.3(MSH6):c.1209C>G (p.Leu403=)	MSH6	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
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 184880	NM_000179.3(MSH6):c.1347G>A (p.Leu449=)	MSH6	Single nucleotide variant (synonymous variant)	Lynch syndrome 5 +5 more	GBenign/Likely benign
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 142181	NM_000179.3(MSH6):c.1364A>C (p.Asn455Thr)	MSH6 (N455T +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome +5 more	GConflicting classifications of pathogenicity
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 548717	NM_000179.3(MSH6):c.1528AGG[1] (p.Arg511del)	MSH6 (R511del +2 more)	Microsatellite (inframe_deletion)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 187702	NM_000179.3(MSH6):c.1560T>C (p.Gly520=)	MSH6	Single nucleotide variant (synonymous variant)	Hereditary nonpolyposis colorectal neoplasms +4 more	GBenign/Likely benign
Select item 89200	NM_000179.3(MSH6):c.1565A>G (p.Gln522Arg)	MSH6 (Q522R +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome 5 +5 more	GConflicting classifications of pathogenicity
Select item 135830	NM_000179.3(MSH6):c.1599G>C (p.Glu533Asp)	MSH6 (E533D +2 more)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 127562	NM_000179.3(MSH6):c.1652G>A (p.Gly551Asp)	MSH6 (G551D +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 138258	NM_000179.3(MSH6):c.1665A>G (p.Ala555=)	MSH6	Single nucleotide variant (synonymous variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 89216	NM_000179.3(MSH6):c.1677C>T (p.Cys559=)	MSH6	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 219551	NM_000179.3(MSH6):c.1691C>A (p.Ser564Ter)	MSH6 (S564* +2 more)	Single nucleotide variant (nonsense)	Hereditary nonpolyposis colorectal neoplasms +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)	Hereditary nonpolyposis colorectal neoplasms +4 more	GConflicting classifications of pathogenicity
Select item 89218	NM_000179.3(MSH6):c.1729C>T (p.Arg577Cys)	MSH6 (R577C +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +7 more	GConflicting classifications of pathogenicity
Select item 134852	NM_000179.3(MSH6):c.1730G>A (p.Arg577His)	MSH6 (R577H +2 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 185467	NM_000179.3(MSH6):c.1732C>T (p.His578Tyr)	MSH6 (H578Y +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 237143	NM_000179.3(MSH6):c.1740G>A (p.Ser580=)	MSH6	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 127563	NM_000179.3(MSH6):c.1746T>G (p.Phe582Leu)	MSH6 (F582L +2 more)	Single nucleotide variant (missense variant)	Endometrial carcinoma +5 more	GConflicting classifications of pathogenicity
Select item 186142	NM_000179.3(MSH6):c.1763A>G (p.His588Arg)	MSH6 (H588R +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +4 more	GUncertain significance
Select item 183715	NM_000179.3(MSH6):c.1776A>T (p.Val592=)	MSH6	Single nucleotide variant (synonymous variant)	Lynch syndrome 5 +5 more	GBenign/Likely benign

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