ClinVar for MedGen (Select 1733656) - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 824273	NM_000179.3(MSH6):c.3832_3838dup (p.Gln1280fs)	MSH6 (Q1280fs +2 more)	Duplication (frameshift variant)	Hereditary nonpolyposis colorectal neoplasms +4 more	GPathogenic/Likely pathogenic
Select item 645219	NM_000179.3(MSH6):c.2684C>G (p.Thr895Arg)	MSH6 (T593R +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +3 more	GUncertain significance
Select item 641995	NM_000179.3(MSH6):c.4029_4031dup (p.Thr1344dup)	MSH6	Duplication (inframe_insertion)	Hereditary nonpolyposis colorectal neoplasms +4 more	GUncertain significance
Select item 567689	NM_000179.3(MSH6):c.2079del (p.Lys693fs)	MSH6 (K563fs +2 more)	Deletion (frameshift variant)	Lynch syndrome 5 +4 more	GPathogenic
Select item 525808	NM_000179.3(MSH6):c.589G>C (p.Asp197His)	MSH6 (D197H)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 491950	NM_000179.3(MSH6):c.3557-17A>T	MSH6	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 491933	NM_000179.3(MSH6):c.3251A>G (p.Asp1084Gly)	MSH6 (D1084G +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +5 more	GUncertain significance
Select item 483799	NM_000179.3(MSH6):c.3341T>A (p.Leu1114Gln)	MSH6 (L1114Q +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome +6 more	GUncertain significance
Select item 480915	NM_000179.3(MSH6):c.220G>T (p.Gly74Ter)	MSH6 (G74*)	Single nucleotide variant (nonsense +1 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GPathogenic
Select item 455228	NM_000179.3(MSH6):c.3014G>T (p.Arg1005Leu)	MSH6 (R1005L +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 455217	NM_000179.3(MSH6):c.2741C>T (p.Thr914Ile)	MSH6 (T914I +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome +4 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)	Lynch syndrome +7 more	GConflicting classifications of pathogenicity
Select item 418851	NM_000179.3(MSH6):c.3739A>G (p.Thr1247Ala)	MSH6 (T1247A +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +5 more	GUncertain significance
Select item 410535	NM_000179.3(MSH6):c.3607C>A (p.His1203Asn)	MSH6 (H1203N +2 more)	Single nucleotide variant (missense variant)	Endometrial carcinoma +6 more	GConflicting classifications of pathogenicity
Select item 410511	NM_000179.3(MSH6):c.3586G>C (p.Glu1196Gln)	MSH6 (E1196Q +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 410471	NM_000179.3(MSH6):c.2550C>G (p.Tyr850Ter)	MSH6 (Y850* +2 more)	Single nucleotide variant (nonsense)	Lynch syndrome 5 +3 more	GPathogenic
Select item 410453	NM_000179.3(MSH6):c.1538T>C (p.Ile513Thr)	MSH6 (I513T +2 more)	Single nucleotide variant (missense variant)	Mismatch repair cancer syndrome 3 +5 more	GUncertain significance
Select item 410438	NM_000179.3(MSH6):c.3199_3213del (p.Ser1067_Asp1071del)	MSH6	Deletion (inframe_deletion)	Mismatch repair cancer syndrome 3 +3 more	GUncertain significance
Select item 378171	NM_000179.3(MSH6):c.3801+14G>T	MSH6	Single nucleotide variant (intron variant)	Endometrial carcinoma +6 more	GBenign/Likely benign
Select item 237175	NM_000179.3(MSH6):c.3070C>T (p.Arg1024Trp)	MSH6 (R1024W +2 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 237133	NM_000179.3(MSH6):c.1350_1351del (p.Phe451fs)	MSH6 (F321fs +2 more)	Deletion (frameshift variant)	Endometrial carcinoma +4 more	GPathogenic/Likely pathogenic
Select item 232785	NM_000179.3(MSH6):c.2098C>A (p.Leu700Ile)	MSH6 (L700I +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +5 more	GUncertain significance
Select item 231236	NM_000179.3(MSH6):c.2668G>T (p.Val890Phe)	MSH6 (V890F +2 more)	Single nucleotide variant (missense variant)	Endometrial carcinoma +6 more	GConflicting classifications of pathogenicity
Select item 231211	NM_000179.3(MSH6):c.3742C>T (p.His1248Tyr)	MSH6 (H1248Y +2 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 218079	NM_000179.3(MSH6):c.4028C>G (p.Ser1343Ter)	MSH6 (S1343* +2 more)	Single nucleotide variant (nonsense)	Hereditary nonpolyposis colorectal neoplasms +4 more	GUncertain significance
Select item 192222	NM_000179.3(MSH6):c.4072A>G (p.Lys1358Glu)	MSH6 (K1358E +2 more)	Single nucleotide variant (missense variant)	Endometrial carcinoma +3 more	GUncertain significance
Select item 187394	NM_000179.3(MSH6):c.3228C>T (p.Arg1076=)	MSH6	Single nucleotide variant (synonymous variant)	MSH6-related condition +5 more	GLikely benign
Select item 183723	NM_000179.3(MSH6):c.10C>T (p.Gln4Ter)	MSH6 (Q4*)	Single nucleotide variant (nonsense +1 more)	MSH6-related condition +8 more	GPathogenic/Likely pathogenic
Select item 182672	NM_000179.3(MSH6):c.4001+2TAAC[4]	MSH6	Microsatellite (splice donor variant)	Hereditary nonpolyposis colorectal neoplasms +8 more	GBenign/Likely benign
Select item 182620	NM_000179.3(MSH6):c.1190A>G (p.Tyr397Cys)	MSH6 (Y397C +2 more)	Single nucleotide variant (missense variant)	Mismatch repair cancer syndrome 3 +8 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)	MSH6-related condition +8 more	GConflicting classifications of pathogenicity
Select item 142620	NM_000179.3(MSH6):c.2653A>T (p.Lys885Ter)	MSH6 (K885* +2 more)	Single nucleotide variant (nonsense)	Hereditary nonpolyposis colorectal neoplasms +4 more	GPathogenic
Select item 142563	NM_000179.3(MSH6):c.4077_4080dup (p.Ter1361IleextTer?)	MSH6	Duplication (frameshift variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +7 more	GUncertain significance
Select item 138260	NM_000179.3(MSH6):c.3172+20T>C	MSH6	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms +6 more	GBenign/Likely benign
Select item 89568	NM_000179.3(MSH6):c.806C>G (p.Thr269Ser)	MSH6 (T269S +1 more)	Single nucleotide variant (missense variant +1 more)	Mismatch repair cancer syndrome 3 +7 more	GConflicting classifications of pathogenicity
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 89547	NM_000179.3(MSH6):c.642C>G (p.Tyr214Ter)	MSH6 (Y214* +1 more)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 89500	NM_000179.3(MSH6):c.4001+2TAAC[2]	MSH6	Microsatellite (splice donor variant)	Lynch syndrome	GLikely benign
Select item 89486	NM_000179.3(MSH6):c.3939_3957dup (p.Ala1320delinsSerLysGlyThrTer)	MSH6	Duplication (nonsense)	Lynch syndrome	GPathogenic
Select item 89418	NM_000179.3(MSH6):c.3557-4dup	MSH6	Duplication (intron variant)	Lynch syndrome	GBenign
Select item 89390	NM_000179.3(MSH6):c.3439-1G>T	MSH6	Single nucleotide variant (splice acceptor variant)	Lynch syndrome	GLikely pathogenic
Select item 89389	NM_000179.3(MSH6):c.3439-16C>T	MSH6	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 89379	NM_000179.3(MSH6):c.3386_3388del (p.Cys1129_Val1130delinsLeu)	MSH6	Deletion (inframe_indel)	Mismatch repair cancer syndrome 3	GPathogenic
Select item 89364	NM_000179.3(MSH6):c.3261dup (p.Phe1088fs)	MSH6 (F1088fs +2 more)	Duplication (frameshift variant)	Lynch syndrome	GPathogenic
Select item 89363	NM_000179.3(MSH6):c.3261del (p.Phe1088fs)	MSH6 (F958fs +1 more)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
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 89331	NM_000179.3(MSH6):c.3020G>A (p.Trp1007Ter)	MSH6 (W1007* +2 more)	Single nucleotide variant (nonsense)	Lynch syndrome	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 89256	NM_000179.3(MSH6):c.2150_2153del (p.Val717fs)	MSH6 (V415fs +1 more)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 89253	NM_000179.3(MSH6):c.2105C>G (p.Ser702Ter)	MSH6 (S702* +2 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 89219	NM_000179.3(MSH6):c.1739C>T (p.Ser580Leu)	MSH6 (S580L +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +6 more	GConflicting classifications of pathogenicity
Select item 89198	NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys)	MSH6 (S201C +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GLikely benign
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 42471	NM_000179.3(MSH6):c.3438+14A>T	MSH6	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
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 36599	NM_000179.3(MSH6):c.642C>T (p.Tyr214=)	MSH6	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome	GBenign
Select item 36597	NM_000179.3(MSH6):c.540T>C (p.Asp180=)	MSH6	Single nucleotide variant (synonymous variant +2 more)	Lynch syndrome	GBenign
Select item 8932	NM_000179.3(MSH6):c.651dup (p.Lys218Ter)	MSH6 (K88* +1 more)	Duplication (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 8931	NM_000179.3(MSH6):c.2633T>C (p.Val878Ala)	MSH6 (V878A +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign

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Items: 59