ClinVar for MedGen (Select 346893) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 1000

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3256160	NM_001040108.2(MLH3):c.3405_3406delinsTC	MLH3 (E1136Q)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3244054	NC_000014.8:g.(?_75483785)_(75516358_?)dup	MLH3	Duplication	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 3244053	NC_000014.8:g.(?_75508298)_(75509200_?)del	MLH3	Deletion	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 3244052	NC_000014.8:g.(?_75500102)_(75500213_?)del	MLH3	Deletion	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 3244051	NC_000014.8:g.(?_75509072)_(75509190_?)del	MLH3	Deletion	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 3065377	NM_001040108.2(MLH3):c.1270_1271del (p.Ser424fs)	MLH3 (S424fs)	Microsatellite (frameshift variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GLikely pathogenic
Select item 3023765	NM_001040108.2(MLH3):c.2870G>A (p.Ser957Asn)	MLH3 (S957N)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 3015206	NM_001040108.2(MLH3):c.3347C>G (p.Ala1116Gly)	MLH3 (A1116G)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 3013497	NM_001040108.2(MLH3):c.2130A>G (p.Leu710=)	MLH3	Single nucleotide variant (synonymous variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GLikely benign
Select item 3009086	NM_001040108.2(MLH3):c.651G>C (p.Leu217Phe)	MLH3 (L217F)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2995233	NM_001040108.2(MLH3):c.3901G>A (p.Val1301Met)	MLH3 (V1301M +1 more)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7 +1 more	GUncertain significance
Select item 2992010	NM_001040108.2(MLH3):c.3306T>C (p.Phe1102=)	MLH3	Single nucleotide variant (synonymous variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GLikely benign
Select item 2980419	NM_001040108.2(MLH3):c.3644-16A>G	MLH3	Single nucleotide variant (intron variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GLikely benign
Select item 2978006	NM_001040108.2(MLH3):c.2415A>G (p.Lys805=)	MLH3	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2974221	NM_001040108.2(MLH3):c.3827+11C>T	MLH3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 2968099	NM_001040108.2(MLH3):c.4238_4242+1dup	MLH3	Duplication (splice donor variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2918816	NM_001040108.2(MLH3):c.3715+16C>T	MLH3	Single nucleotide variant (intron variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GLikely benign
Select item 2912825	NM_001040108.2(MLH3):c.2161A>G (p.Arg721Gly)	MLH3 (R721G)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7 +1 more	GUncertain significance
Select item 2912037	NM_001040108.2(MLH3):c.2753A>G (p.Asp918Gly)	MLH3 (D918G)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2911400	NM_001040108.2(MLH3):c.787A>T (p.Lys263Ter)	MLH3 (K263*)	Single nucleotide variant (nonsense)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2907051	NM_001040108.2(MLH3):c.3715+10T>C	MLH3	Single nucleotide variant (intron variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GLikely benign
Select item 2904611	NM_001040108.2(MLH3):c.3828-7T>A	MLH3	Single nucleotide variant (intron variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2904410	NM_001040108.2(MLH3):c.3943G>A (p.Glu1315Lys)	MLH3 (E1291K +1 more)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2904203	NM_001040108.2(MLH3):c.3084A>C (p.Ala1028=)	MLH3	Single nucleotide variant (synonymous variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GLikely benign
Select item 2903214	NM_001040108.2(MLH3):c.3827+1G>C	MLH3	Single nucleotide variant (splice donor variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2901161	NM_001040108.2(MLH3):c.4090+18G>A	MLH3	Single nucleotide variant (intron variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GLikely benign
Select item 2898782	NM_001040108.2(MLH3):c.242T>C (p.Val81Ala)	MLH3 (V81A)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2897808	NM_001040108.2(MLH3):c.3589A>C (p.Asn1197His)	MLH3 (N1197H)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2891233	NM_001040108.2(MLH3):c.3035C>T (p.Ala1012Val)	MLH3 (A1012V)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2889333	NM_001040108.2(MLH3):c.3959G>T (p.Arg1320Ile)	MLH3 (R1296I +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2885305	NM_001040108.2(MLH3):c.4091-13_4091-10del	MLH3	Deletion (intron variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GLikely benign
Select item 2884620	NM_001040108.2(MLH3):c.471A>C (p.Val157=)	MLH3	Single nucleotide variant (synonymous variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GLikely benign
Select item 2874781	NM_001040108.2(MLH3):c.2591dup (p.Leu864fs)	MLH3 (L864fs)	Duplication (frameshift variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2874661	NM_001040108.2(MLH3):c.3280+14A>G	MLH3	Single nucleotide variant (intron variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GLikely benign
Select item 2868979	NM_001040108.2(MLH3):c.1076G>A (p.Gly359Asp)	MLH3 (G359D)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2860652	NM_001040108.2(MLH3):c.1735A>T (p.Thr579Ser)	MLH3 (T579S)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2857148	NM_001040108.2(MLH3):c.3571-9G>A	MLH3	Single nucleotide variant (intron variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GLikely benign
Select item 2852999	NM_001040108.2(MLH3):c.510G>T (p.Lys170Asn)	MLH3 (K170N)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2851949	NM_001040108.2(MLH3):c.4243-16T>C	MLH3	Single nucleotide variant (intron variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GLikely benign
Select item 2851322	NM_001040108.2(MLH3):c.1238_1256del (p.Arg413fs)	MLH3 (R413fs)	Deletion (frameshift variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2845401	NM_001040108.2(MLH3):c.2602A>G (p.Lys868Glu)	MLH3 (K868E)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2844391	NM_001040108.2(MLH3):c.260C>G (p.Pro87Arg)	MLH3 (P87R)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2843393	NM_001040108.2(MLH3):c.3444A>G (p.Pro1148=)	MLH3	Single nucleotide variant (synonymous variant)	Colorectal cancer, hereditary nonpolyposis, type 7 +1 more	GLikely benign
Select item 2841676	NM_001040108.2(MLH3):c.4354C>T (p.Pro1452Ser)	MLH3 (P1428S +1 more)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2833649	NM_001040108.2(MLH3):c.3226G>C (p.Ala1076Pro)	MLH3 (A1076P)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2829261	NM_001040108.2(MLH3):c.2381A>G (p.Asp794Gly)	MLH3 (D794G)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2828532	NM_001040108.2(MLH3):c.1552T>G (p.Phe518Val)	MLH3 (F518V)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2819715	NM_001040108.2(MLH3):c.3400A>G (p.Ser1134Gly)	MLH3 (S1134G)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2819548	NM_001040108.2(MLH3):c.2887T>C (p.Cys963Arg)	MLH3 (C963R)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2817990	NM_001040108.2(MLH3):c.2045G>A (p.Gly682Glu)	MLH3 (G682E)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2816821	NM_001040108.2(MLH3):c.3381T>A (p.Asp1127Glu)	MLH3 (D1127E)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2816161	NM_001040108.2(MLH3):c.3368A>C (p.Gln1123Pro)	MLH3 (Q1123P)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7 +1 more	GUncertain significance
Select item 2813472	NM_001040108.2(MLH3):c.2496C>A (p.Phe832Leu)	MLH3 (F832L)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2811537	NM_001040108.2(MLH3):c.4199T>C (p.Met1400Thr)	MLH3 (M1376T +1 more)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2811502	NM_001040108.2(MLH3):c.4335A>T (p.Gln1445His)	MLH3 (Q1421H +1 more)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2810649	NM_001040108.2(MLH3):c.2337dup (p.Thr780fs)	MLH3 (T780fs)	Duplication (frameshift variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2796436	NM_001040108.2(MLH3):c.2888G>C (p.Cys963Ser)	MLH3 (C963S)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2789857	NM_001040108.2(MLH3):c.680G>A (p.Ser227Asn)	MLH3 (S227N)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2783522	NM_001040108.2(MLH3):c.1697C>A (p.Pro566His)	MLH3 (P566H)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2783085	NM_001040108.2(MLH3):c.2126T>G (p.Ile709Arg)	MLH3 (I709R)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2778239	NM_001040108.2(MLH3):c.3465+4G>T	MLH3	Single nucleotide variant (intron variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2777143	NM_001040108.2(MLH3):c.782G>A (p.Arg261Lys)	MLH3 (R261K)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2771509	NM_001040108.2(MLH3):c.956T>A (p.Val319Glu)	MLH3 (V319E)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2770055	NM_001040108.2(MLH3):c.3226G>A (p.Ala1076Thr)	MLH3 (A1076T)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2763926	NM_001040108.2(MLH3):c.2896T>A (p.Ser966Thr)	MLH3 (S966T)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2762623	NM_001040108.2(MLH3):c.552del (p.Ile185fs)	MLH3 (I185fs)	Deletion (frameshift variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2759303	NM_001040108.2(MLH3):c.2543A>G (p.Glu848Gly)	MLH3 (E848G)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2757361	NM_001040108.2(MLH3):c.3466-2A>G	MLH3	Single nucleotide variant (splice acceptor variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2756908	NM_001040108.2(MLH3):c.3909A>G (p.Lys1303=)	MLH3	Single nucleotide variant (synonymous variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GLikely benign
Select item 2756464	NM_001040108.2(MLH3):c.1159_1160dup (p.Ser388fs)	MLH3 (S388fs)	Microsatellite (frameshift variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2754894	NM_001040108.2(MLH3):c.3274G>A (p.Glu1092Lys)	MLH3 (E1092K)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2744734	NM_001040108.2(MLH3):c.4011+10T>C	MLH3	Single nucleotide variant (intron variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GLikely benign
Select item 2741891	NM_001040108.2(MLH3):c.3841A>G (p.Asn1281Asp)	MLH3 (N1257D +1 more)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2738133	NM_001040108.2(MLH3):c.3922_3926del (p.Phe1308fs)	MLH3 (F1284fs +1 more)	Deletion (frameshift variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2733793	NM_001040108.2(MLH3):c.3644-20C>T	MLH3	Single nucleotide variant (intron variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GLikely benign
Select item 2733478	NM_001040108.2(MLH3):c.3533C>T (p.Pro1178Leu)	MLH3 (P1178L)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2732675	NM_001040108.2(MLH3):c.2778G>A (p.Lys926=)	MLH3	Single nucleotide variant (synonymous variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GLikely benign
Select item 2730689	NM_001040108.2(MLH3):c.3220A>T (p.Ile1074Phe)	MLH3 (I1074F)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2728061	NM_001040108.2(MLH3):c.1670C>T (p.Ala557Val)	MLH3 (A557V)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7 +1 more	GUncertain significance
Select item 2728025	NM_001040108.2(MLH3):c.1483A>G (p.Ser495Gly)	MLH3 (S495G)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2726456	NM_001040108.2(MLH3):c.4090+7C>G	MLH3	Single nucleotide variant (intron variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GLikely benign
Select item 2724864	NM_001040108.2(MLH3):c.3775C>A (p.Leu1259Ile)	MLH3 (L1259I +1 more)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2722226	NM_001040108.2(MLH3):c.2646T>C (p.Gly882=)	MLH3	Single nucleotide variant (synonymous variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GLikely benign
Select item 2719240	NM_001040108.2(MLH3):c.3554T>A (p.Met1185Lys)	MLH3 (M1185K)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2718089	NM_001040108.2(MLH3):c.3713T>C (p.Ile1238Thr)	MLH3 (I1238T)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2717188	NM_001040108.2(MLH3):c.3292A>G (p.Arg1098Gly)	MLH3 (R1098G)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2716752	NM_001040108.2(MLH3):c.910G>A (p.Gly304Ser)	MLH3 (G304S)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2716630	NM_001040108.2(MLH3):c.4258A>G (p.Thr1420Ala)	MLH3 (T1420A +1 more)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2716055	NM_001040108.2(MLH3):c.4195_4197del (p.Ser1399del)	MLH3 (S1375del +1 more)	Deletion (inframe_deletion)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2715978	NM_001040108.2(MLH3):c.4190G>A (p.Arg1397Lys)	MLH3 (R1397K +1 more)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7 +1 more	GUncertain significance
Select item 2714221	NM_001040108.2(MLH3):c.1676A>C (p.Glu559Ala)	MLH3 (E559A)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2711992	NM_001040108.2(MLH3):c.3715G>A (p.Asp1239Asn)	MLH3 (D1239N)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2711500	NM_001040108.2(MLH3):c.3052G>A (p.Gly1018Arg)	MLH3 (G1018R)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2708850	NM_001040108.2(MLH3):c.2500A>G (p.Lys834Glu)	MLH3 (K834E)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2707787	NM_001040108.2(MLH3):c.1976C>T (p.Ala659Val)	MLH3 (A659V)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2706638	NM_001040108.2(MLH3):c.3047A>T (p.Gln1016Leu)	MLH3 (Q1016L)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2706508	NM_001040108.2(MLH3):c.1426A>C (p.Ile476Leu)	MLH3 (I476L)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2703126	NM_001040108.2(MLH3):c.4275G>C (p.Met1425Ile)	MLH3 (M1401I +1 more)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2700741	NM_001040108.2(MLH3):c.4176G>T (p.Gln1392His)	MLH3 (Q1392H +1 more)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance
Select item 2696550	NM_001040108.2(MLH3):c.1362del (p.Glu455fs)	MLH3 (E455fs)	Deletion (frameshift variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GUncertain significance

<< First< Prev

Page of 10