ClinVar for MedGen (Select 96903) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382298	NM_000179.3(MSH6):c.3850_3860del (p.Ile1283_Thr1284insTer)	MSH6 (L1279fs)	Deletion (nonsense +3 more)	Lynch syndrome 5 +2 more	GLikely pathogenic
Select item 3381941	NM_000179.3(MSH6):c.3886_3887insT (p.Lys1296fs)	MSH6 (K1008fs +15 more)	Insertion (frameshift variant +3 more)	Lynch syndrome 5 +2 more	GPathogenic
Select item 3341390	NM_000179.3(MSH6):c.1881T>G (p.Phe627Leu)	MSH6 (F325L +8 more)	Single nucleotide variant (missense variant +2 more)	Endometrial carcinoma	GUncertain significance
Select item 3338431	GRCh37/hg19 16q22.1(chr16:68846035-68961985)x1	CDH1, TANGO6	Copy number loss	Endometrial carcinoma	GLikely pathogenic
Select item 3256158	NM_000179.3(MSH6):c.2561_2562delinsTT	MSH6 (K854M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3239799	NM_000179.3(MSH6):c.2527A>T (p.Ile843Leu)	MSH6 (I541L +8 more)	Single nucleotide variant (missense variant +2 more)	Endometrial carcinoma	GUncertain significance
Select item 3239798	NM_000179.3(MSH6):c.1442C>G (p.Ala481Gly)	MSH6 (A179G +8 more)	Single nucleotide variant (missense variant +2 more)	Endometrial carcinoma	GUncertain significance
Select item 3239796	NM_000179.3(MSH6):c.2366A>T (p.Asn789Ile)	MSH6 (N487I +8 more)	Single nucleotide variant (missense variant +2 more)	Endometrial carcinoma	GUncertain significance
Select item 3239795	NM_000179.3(MSH6):c.2825C>G (p.Ala942Gly)	MSH6 (A257G +9 more)	Single nucleotide variant (missense variant +2 more)	Endometrial carcinoma	GUncertain significance
Select item 3239794	NM_000179.3(MSH6):c.1878G>T (p.Gln626His)	MSH6 (Q324H +8 more)	Single nucleotide variant (missense variant +2 more)	Endometrial carcinoma	GUncertain significance
Select item 3239793	NM_000179.3(MSH6):c.1589A>T (p.Asp530Val)	MSH6 (D228V +8 more)	Single nucleotide variant (missense variant +2 more)	Endometrial carcinoma	GUncertain significance
Select item 3239792	NM_000179.3(MSH6):c.3320A>G (p.Asp1107Gly)	MSH6 (D1008G +13 more)	Single nucleotide variant (missense variant +2 more)	Endometrial carcinoma	GUncertain significance
Select item 3239791	NM_000179.3(MSH6):c.1703T>G (p.Phe568Cys)	MSH6 (F266C +8 more)	Single nucleotide variant (missense variant +2 more)	Endometrial carcinoma	GUncertain significance
Select item 3239790	NM_000179.3(MSH6):c.1070A>G (p.Asp357Gly)	MSH6 (D182G +8 more)	Single nucleotide variant (missense variant +2 more)	Endometrial carcinoma	GUncertain significance
Select item 3239789	NM_000179.3(MSH6):c.688G>T (p.Glu230Ter)	MSH6 (E100* +7 more)	Single nucleotide variant (nonsense +3 more)	Endometrial carcinoma	GLikely pathogenic
Select item 3239788	NM_000179.3(MSH6):c.1531A>G (p.Arg511Gly)	MSH6 (R209G +8 more)	Single nucleotide variant (missense variant +2 more)	Endometrial carcinoma +2 more	GConflicting classifications of pathogenicity
Select item 3239787	NM_000179.3(MSH6):c.3613A>T (p.Thr1205Ser)	MSH6 (T1030S +14 more)	Single nucleotide variant (missense variant +1 more)	Endometrial carcinoma	GUncertain significance
Select item 3239786	NM_000179.3(MSH6):c.4027T>A (p.Ser1343Thr)	MSH6 (S1041T +14 more)	Single nucleotide variant (missense variant +2 more)	Endometrial carcinoma	GUncertain significance
Select item 3239785	NM_000179.3(MSH6):c.2475T>G (p.Ile825Met)	MSH6 (I523M +8 more)	Single nucleotide variant (missense variant +2 more)	Endometrial carcinoma	GUncertain significance
Select item 3239784	NM_002439.5(MSH3):c.2930T>G (p.Leu977Arg)	MSH3 (L977R)	Single nucleotide variant (missense variant)	Endometrial carcinoma	GUncertain significance
Select item 3239783	NM_002439.5(MSH3):c.200C>A (p.Pro67Gln)	DHFR, MSH3 (P67Q)	Single nucleotide variant (5 prime UTR variant +2 more)	Endometrial carcinoma	GUncertain significance
Select item 3239782	NM_002439.5(MSH3):c.1589G>T (p.Ser530Ile)	MSH3 (S530I)	Single nucleotide variant (missense variant)	Endometrial carcinoma	GUncertain significance
Select item 3239781	NM_002439.5(MSH3):c.2998G>T (p.Asp1000Tyr)	MSH3 (D1000Y)	Single nucleotide variant (missense variant)	Endometrial carcinoma	GUncertain significance
Select item 3239780	NM_002439.5(MSH3):c.1504T>C (p.Ser502Pro)	MSH3 (S502P)	Single nucleotide variant (missense variant)	Endometrial carcinoma +1 more	GUncertain significance
Select item 3239779	NM_002439.5(MSH3):c.710T>A (p.Ile237Lys)	MSH3 (I237K)	Single nucleotide variant (missense variant)	Endometrial carcinoma	GUncertain significance
Select item 3239778	NM_002439.5(MSH3):c.2818G>A (p.Gly940Ser)	MSH3 (G940S)	Single nucleotide variant (missense variant)	Endometrial carcinoma +1 more	GUncertain significance
Select item 3239777	NM_002439.5(MSH3):c.2512G>T (p.Ala838Ser)	MSH3 (A838S)	Single nucleotide variant (missense variant)	Endometrial carcinoma	GUncertain significance
Select item 3239776	NM_002439.5(MSH3):c.166_167insGGGCCGCAG (p.Ala55_Ala56insGlyAlaAla)	DHFR, MSH3	Insertion (inframe_insertion +2 more)	Endometrial carcinoma	GLikely benign
Select item 3239775	NM_002439.5(MSH3):c.1729AAG[1] (p.Lys578del)	MSH3 (K578del)	Microsatellite (inframe_deletion)	Endometrial carcinoma	GUncertain significance
Select item 3239773	NM_002439.5(MSH3):c.712G>A (p.Glu238Lys)	MSH3 (E238K)	Single nucleotide variant (missense variant)	Endometrial carcinoma	GUncertain significance
Select item 3239772	NM_002439.5(MSH3):c.3179C>A (p.Thr1060Asn)	MSH3 (T1060N)	Single nucleotide variant (missense variant)	Endometrial carcinoma	GUncertain significance
Select item 3239771	NM_002439.5(MSH3):c.3144A>T (p.Gln1048His)	MSH3 (Q1048H)	Single nucleotide variant (missense variant)	Endometrial carcinoma	GUncertain significance
Select item 3239770	NM_002439.5(MSH3):c.1347G>T (p.Gln449His)	MSH3 (Q449H)	Single nucleotide variant (missense variant)	Endometrial carcinoma	GUncertain significance
Select item 3239769	NM_002439.5(MSH3):c.1076T>C (p.Ile359Thr)	MSH3 (I359T)	Single nucleotide variant (missense variant)	Endometrial carcinoma	GUncertain significance
Select item 3239768	NM_002439.5(MSH3):c.1828C>G (p.Gln610Glu)	MSH3 (Q610E)	Single nucleotide variant (missense variant)	Endometrial carcinoma	GUncertain significance
Select item 3239767	NM_002439.5(MSH3):c.1330A>C (p.Thr444Pro)	MSH3 (T444P)	Single nucleotide variant (missense variant)	Endometrial carcinoma	GUncertain significance
Select item 3239766	NM_002439.5(MSH3):c.784G>C (p.Asp262His)	MSH3 (D262H)	Single nucleotide variant (missense variant)	Endometrial carcinoma	GUncertain significance
Select item 3230529	NM_000179.3(MSH6):c.2386G>C (p.Glu796Gln)	MSH6 (E494Q +8 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3073839	NM_000179.3(MSH6):c.616G>A (p.Glu206Lys)	MSH6 (E107K +6 more)	Single nucleotide variant (missense variant +3 more)	Endometrial carcinoma +1 more	GUncertain significance
Select item 2810490	NM_002439.5(MSH3):c.1148A>C (p.Lys383Thr)	MSH3 (K383T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2808193	NM_002439.5(MSH3):c.1965A>G (p.Ile655Met)	MSH3 (I655M)	Single nucleotide variant (missense variant)	Endometrial carcinoma +1 more	GUncertain significance
Select item 2744300	NM_000179.3(MSH6):c.3438+2T>G	MSH6	Single nucleotide variant (splice donor variant)	Endometrial carcinoma +1 more	GLikely pathogenic
Select item 2720332	NM_000179.3(MSH6):c.3918_3929dup (p.Pro1309_Glu1310insAspAsnLeuPro)	MSH6	Duplication (inframe_insertion +2 more)	Endometrial carcinoma +1 more	GUncertain significance
Select item 2676830	NM_000179.3(MSH6):c.1938_1942delinsTATTCTT (p.Lys646fs)	MSH6 (K344fs +8 more)	Indel (frameshift variant +2 more)	Endometrial carcinoma	GLikely pathogenic
Select item 2676829	NM_000179.3(MSH6):c.884_885del (p.Lys295fs)	MSH6 (K120fs +7 more)	Deletion (frameshift variant +3 more)	Endometrial carcinoma	GLikely pathogenic
Select item 2676828	NM_000179.3(MSH6):c.1359del (p.Gly454fs)	MSH6 (G152fs +8 more)	Deletion (frameshift variant +2 more)	Endometrial carcinoma	GLikely pathogenic
Select item 2676827	NM_000179.3(MSH6):c.1901_1910del (p.Leu634fs)	MSH6 (L332fs +8 more)	Deletion (frameshift variant +2 more)	Endometrial carcinoma	GLikely pathogenic
Select item 2676826	NM_000179.3(MSH6):c.1168_1211dup (p.Asn404fs)	MSH6 (N102fs +8 more)	Duplication (frameshift variant +2 more)	Endometrial carcinoma	GLikely pathogenic
Select item 2676825	NM_000179.3(MSH6):c.3729_3767dup (p.Tyr1256Ter)	MSH6 (Y1081* +14 more)	Duplication (nonsense +1 more)	Endometrial carcinoma	GLikely pathogenic
Select item 2676824	NM_000179.3(MSH6):c.3089del (p.Lys1030fs)	MSH6 (K1004fs +9 more)	Deletion (frameshift variant +2 more)	Endometrial carcinoma	GLikely pathogenic
Select item 2676823	NM_000179.3(MSH6):c.1552dup (p.Thr518fs)	MSH6 (T216fs +8 more)	Duplication (frameshift variant +2 more)	Endometrial carcinoma	GLikely pathogenic
Select item 2676822	NM_000179.3(MSH6):c.364G>T (p.Glu122Ter)	MSH6 (E122* +4 more)	Single nucleotide variant (nonsense +3 more)	Endometrial carcinoma	GLikely pathogenic
Select item 2676821	NM_000179.3(MSH6):c.3986C>A (p.Ser1329Ter)	MSH6 (S1027* +14 more)	Single nucleotide variant (nonsense +3 more)	Endometrial carcinoma	GLikely pathogenic
Select item 2676818	NM_000179.3(MSH6):c.3647-20T>G	MSH6	Single nucleotide variant (intron variant)	Endometrial carcinoma	GUncertain significance
Select item 2676817	NM_000179.3(MSH6):c.2434C>G (p.Leu812Val)	MSH6 (L510V +8 more)	Single nucleotide variant (missense variant +2 more)	Endometrial carcinoma	GUncertain significance
Select item 2676816	NM_000179.3(MSH6):c.1368G>T (p.Trp456Cys)	MSH6 (W154C +8 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Endometrial carcinoma	GUncertain significance
Select item 2676815	NM_000179.3(MSH6):c.3149_3168dup (p.Leu1057_Asp1058insTer)	MSH6	Duplication (nonsense +3 more)	Endometrial carcinoma	GLikely pathogenic
Select item 2676814	NM_000179.3(MSH6):c.1462A>G (p.Thr488Ala)	MSH6 (T186A +8 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome +1 more	GUncertain significance
Select item 2676813	NM_000179.3(MSH6):c.2754T>G (p.His918Gln)	MSH6 (H233Q +9 more)	Single nucleotide variant (missense variant +2 more)	Endometrial carcinoma	GUncertain significance
Select item 2676812	NM_000179.3(MSH6):c.2646dup (p.Lys883Ter)	MSH6 (K581* +8 more)	Duplication (nonsense +2 more)	Endometrial carcinoma	GLikely pathogenic
Select item 2676811	NM_000179.3(MSH6):c.565A>G (p.Lys189Glu)	MSH6 (K133E +6 more)	Single nucleotide variant (missense variant +3 more)	Endometrial carcinoma	GUncertain significance
Select item 2676809	NM_000179.3(MSH6):c.478C>A (p.Gln160Lys)	MSH6 (Q104K +5 more)	Single nucleotide variant (intron variant +3 more)	Endometrial carcinoma	GUncertain significance
Select item 2676808	NM_000179.3(MSH6):c.3583A>G (p.Ser1195Gly)	MSH6 (S1020G +14 more)	Single nucleotide variant (missense variant +1 more)	Endometrial carcinoma	GUncertain significance
Select item 2676807	NM_000179.3(MSH6):c.4051_*18dup (p.Val1350_Ter1361=)	MSH6	Duplication (no sequence alteration +2 more)	Endometrial carcinoma	GUncertain significance
Select item 2676806	NM_000179.3(MSH6):c.668A>C (p.Asn223Thr)	MSH6 (N124T +7 more)	Single nucleotide variant (missense variant +3 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
Select item 2676805	NM_000179.3(MSH6):c.1783T>A (p.Leu595Ile)	MSH6 (L293I +8 more)	Single nucleotide variant (missense variant +2 more)	Endometrial carcinoma	GUncertain significance
Select item 2676804	NM_000179.3(MSH6):c.1352T>G (p.Phe451Cys)	MSH6 (F149C +8 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 2676803	NM_000179.3(MSH6):c.4010G>C (p.Cys1337Ser)	MSH6 (C1035S +17 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 2676802	NM_000179.3(MSH6):c.2269A>G (p.Thr757Ala)	MSH6 (T455A +8 more)	Single nucleotide variant (missense variant +2 more)	Endometrial carcinoma	GUncertain significance
Select item 2676801	NM_000179.3(MSH6):c.3083_3085del (p.Ser1028del)	MSH6 (S1002del +9 more)	Deletion (inframe deletion +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2676800	NM_000179.3(MSH6):c.2723A>T (p.Glu908Val)	MSH6 (E223V +9 more)	Single nucleotide variant (missense variant +2 more)	Endometrial carcinoma	GUncertain significance
Select item 2676799	NM_000179.3(MSH6):c.650A>C (p.Asp217Ala)	MSH6 (D118A +7 more)	Single nucleotide variant (missense variant +3 more)	Endometrial carcinoma	GUncertain significance
Select item 2676798	NM_000179.3(MSH6):c.92G>C (p.Gly31Ala)	MSH6 (A13P +1 more)	Single nucleotide variant (non-coding transcript variant +3 more)	Endometrial carcinoma	GUncertain significance
Select item 2676797	NM_000179.3(MSH6):c.261-4A>G	MSH6	Single nucleotide variant (5 prime UTR variant +1 more)	Endometrial carcinoma	GUncertain significance
Select item 2676796	NM_000179.3(MSH6):c.3665T>C (p.Phe1222Ser)	MSH6 (F1047S +14 more)	Single nucleotide variant (missense variant +1 more)	Endometrial carcinoma	GUncertain significance
Select item 2676795	NM_000179.3(MSH6):c.2275_2282delinsTGGAA (p.Leu759_Arg761delinsTrpLys)	MSH6	Indel (inframe_indel +2 more)	Endometrial carcinoma	GUncertain significance
Select item 2676794	NM_000179.3(MSH6):c.2303C>A (p.Pro768His)	MSH6 (P466H +8 more)	Single nucleotide variant (missense variant +2 more)	Endometrial carcinoma	GUncertain significance
Select item 2676793	NM_000179.3(MSH6):c.3955A>C (p.Lys1319Gln)	MSH6 (E1314D +15 more)	Single nucleotide variant (missense variant +2 more)	Endometrial carcinoma	GUncertain significance
Select item 2676792	NM_000179.3(MSH6):c.4071_*8dup (p.Ile1357_Ter1361=)	MSH6	Duplication (no sequence alteration +2 more)	Endometrial carcinoma	GUncertain significance
Select item 2676791	NM_000179.3(MSH6):c.3065A>C (p.Glu1022Ala)	MSH6 (E1022A +9 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
Select item 2676789	NM_000179.3(MSH6):c.2067C>G (p.Phe689Leu)	MSH6 (F387L +8 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Endometrial carcinoma	GUncertain significance
Select item 2676788	NM_000179.3(MSH6):c.3611dup (p.Thr1205fs)	MSH6 (T1030fs +14 more)	Duplication (frameshift variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GPathogenic/Likely pathogenic
Select item 2676787	NM_002439.5(MSH3):c.1309G>T (p.Glu437Ter)	MSH3 (E437*)	Single nucleotide variant (nonsense)	Endometrial carcinoma +1 more	GPathogenic/Likely pathogenic
Select item 2676786	NM_002439.5(MSH3):c.2492_2493del (p.Val831fs)	MSH3 (V831fs)	Deletion (frameshift variant)	Endometrial carcinoma	GLikely pathogenic
Select item 2676785	NM_002439.5(MSH3):c.247del (p.Ile83fs)	MSH3 (I83fs)	Deletion (frameshift variant)	Endometrial carcinoma	GLikely pathogenic
Select item 2676784	NM_002439.5(MSH3):c.1174-1G>A	MSH3	Single nucleotide variant (splice acceptor variant)	Endometrial carcinoma	GLikely pathogenic
Select item 2676782	NM_002439.5(MSH3):c.3250A>T (p.Lys1084Ter)	MSH3 (K1084*)	Single nucleotide variant (nonsense)	Endometrial carcinoma	GLikely pathogenic
Select item 2676781	NM_002439.5(MSH3):c.169_196del (p.Ala57fs)	DHFR, MSH3 (A57fs)	Deletion (5 prime UTR variant +2 more)	Endometrial carcinoma	GLikely pathogenic
Select item 2676780	NM_002439.5(MSH3):c.161del (p.Ala54fs)	DHFR, MSH3 (A54fs)	Deletion (5 prime UTR variant +2 more)	Endometrial carcinoma	GLikely pathogenic
Select item 2676779	NM_002439.5(MSH3):c.2452del (p.Tyr818fs)	MSH3 (Y818fs)	Deletion (frameshift variant)	Endometrial carcinoma	GLikely pathogenic
Select item 2676778	NM_002439.5(MSH3):c.466_467dup (p.Gln157fs)	MSH3 (Q157fs)	Microsatellite (frameshift variant)	Endometrial carcinoma	GLikely pathogenic
Select item 2676777	NM_002439.5(MSH3):c.1526dup (p.Tyr509Ter)	MSH3 (Y509*)	Duplication (nonsense)	Endometrial carcinoma	GLikely pathogenic
Select item 2676776	NM_002439.5(MSH3):c.1653+2T>A	MSH3	Single nucleotide variant (splice donor variant)	Endometrial carcinoma	GLikely pathogenic
Select item 2676775	NM_002439.5(MSH3):c.3022del (p.Val1008fs)	MSH3 (V1008fs)	Deletion (frameshift variant)	Endometrial carcinoma	GLikely pathogenic
Select item 2676774	NM_002439.5(MSH3):c.15del (p.Lys5fs)	DHFR, MSH3 (K5fs)	Deletion (5 prime UTR variant +2 more)	Endometrial carcinoma	GLikely pathogenic
Select item 2676773	NM_002439.5(MSH3):c.96delinsCT (p.Gly32_Ser33insTer)	DHFR, MSH3	Indel (5 prime UTR variant +2 more)	Endometrial carcinoma	GLikely pathogenic
Select item 2676772	NM_002439.5(MSH3):c.202G>A (p.Ala68Thr)	DHFR, MSH3 (A68T)	Single nucleotide variant (5 prime UTR variant +2 more)	Endometrial carcinoma	GUncertain significance
Select item 2676770	NM_002439.5(MSH3):c.2917A>T (p.Ile973Phe)	MSH3 (I973F)	Single nucleotide variant (missense variant)	Endometrial carcinoma	GUncertain significance
Select item 2676769	NM_002439.5(MSH3):c.2225C>T (p.Ala742Val)	MSH3 (A742V)	Single nucleotide variant (missense variant)	Endometrial carcinoma +1 more	GUncertain significance
Select item 2676768	NM_002439.5(MSH3):c.1549A>G (p.Lys517Glu)	MSH3 (K517E)	Single nucleotide variant (missense variant)	Endometrial carcinoma	GUncertain significance

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