ClinVar for Gene (Select 4292) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3387039	NM_000249.4(MLH1):c.1982C>T (p.Ala661Val)	MLH1 (A303V +6 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GUncertain significance
Select item 3387038	NM_000249.4(MLH1):c.1534G>A (p.Glu512Lys)	MLH1 (E154K +5 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GUncertain significance
Select item 3387036	NM_000249.4(MLH1):c.900C>T (p.Pro300=)	MLH1	Single nucleotide variant (synonymous variant +2 more)	Lynch syndrome	GLikely benign
Select item 3387035	NM_000249.4(MLH1):c.791-12T>C	MLH1	Single nucleotide variant (intron variant)	Lynch syndrome	GLikely benign
Select item 3387034	NM_000249.4(MLH1):c.491A>G (p.Lys164Arg)	MLH1 (K131R +2 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 3387033	NM_000249.4(MLH1):c.418A>G (p.Lys140Glu)	MLH1 (K107E +2 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GUncertain significance
Select item 3387032	NM_000249.4(MLH1):c.381-14T>A	MLH1	Single nucleotide variant (intron variant)	Lynch syndrome	GLikely benign
Select item 3387031	NM_000249.4(MLH1):c.356C>G (p.Thr119Arg)	MLH1 (T119R +2 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GUncertain significance
Select item 3387030	NM_000249.4(MLH1):c.146T>G (p.Val49Gly)	MLH1 (V49G)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 3385254	NM_000249.4(MLH1):c.1692del (p.Ile565fs)	MLH1 (I207fs +5 more)	Deletion (frameshift variant)	Hereditary nonpolyposis colon cancer	GPathogenic
Select item 3385210	NC_000003.11:g.(37070424_37081676)_(37081786_37083758)del	MLH1	Deletion	Hereditary nonpolyposis colon cancer	GPathogenic
Select item 3375128	NC_000003.11:g.(37035155_37038109)_(37059091_37061800)del	MLH1	Deletion	Hereditary nonpolyposis colon cancer	GPathogenic
Select item 3373689	NM_000249.4(MLH1):c.2116G>A (p.Gly706Ser)	MLH1 (G348S +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372628	NM_000249.4(MLH1):c.2128A>T (p.Asn710Tyr)	MLH1 (N352Y +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367912	NM_000249.4(MLH1):c.1057G>C (p.Ala353Pro)	MLH1 (A112P +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3366804	NM_000249.4(MLH1):c.1257_1264del (p.Ile419fs)	MLH1 (I178fs +5 more)	Deletion (frameshift variant)	Hereditary nonpolyposis colon cancer	GPathogenic
Select item 3362906	NC_000003.12:g.(?_37040183)_(37063791_?)del	LRRFIP2, MLH1	Deletion	Colorectal cancer, hereditary nonpolyposis, type 2	GLikely pathogenic
Select item 3362377	NM_000249.4(MLH1):c.335_336del (p.His112fs)	MLH1 (H112fs +2 more)	Deletion (frameshift variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GUncertain significance
Select item 3360007	NM_000249.4(MLH1):c.2232_2234delinsAGGAAATAT (p.Asn745delinsGlyAsnIle)	MLH1	Indel (inframe_indel)	not provided	GUncertain significance
Select item 3344166	NM_000249.4(MLH1):c.1047A>C (p.Leu349=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	MLH1-related disorder	GLikely benign
Select item 3343966	NM_000249.4(MLH1):c.2144_2150del (p.Thr715fs)	MLH1 (T357fs +8 more)	Deletion (frameshift variant)	Colorectal cancer, hereditary nonpolyposis, type 2	GLikely pathogenic
Select item 3342114	NM_000249.4(MLH1):c.646_647del (p.Ile216fs)	MLH1 (I118fs +2 more)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 3339987	NC_000003.11:g.(37083823_37089009)_(37092338_?)dup	MLH1	Duplication	not specified	GUncertain significance
Select item 3337903	NM_000249.4(MLH1):c.884+679_1410-1251del	MLH1	Deletion (splice acceptor variant +2 more)	not provided	GPathogenic
Select item 3337289	NM_000249.4(MLH1):c.1690del (p.Leu564fs)	MLH1 (L206fs +5 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3295069	NM_000249.4(MLH1):c.1728A>T (p.Leu576Phe)	MLH1 (L543F +5 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3295067	NM_000249.4(MLH1):c.2224C>A (p.Gln742Lys)	MLH1 (Q384K +8 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3295066	NM_000249.4(MLH1):c.23T>A (p.Ile8Asn)	MLH1 (I8N)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3295064	NM_000249.4(MLH1):c.1459C>A (p.Arg487=)	MLH1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3295063	NM_000249.4(MLH1):c.815T>G (p.Leu272Trp)	MLH1 (L239W +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3295062	NM_000249.4(MLH1):c.2013del (p.Glu671fs)	MLH1 (E430fs +7 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3295061	NM_000249.4(MLH1):c.1711T>G (p.Phe571Val)	MLH1 (F230V +5 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3295060	NM_000249.4(MLH1):c.1944_1945delinsG (p.Pro649fs)	MLH1 (P308fs +6 more)	Indel (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3295059	NM_000249.4(MLH1):c.854C>T (p.Pro285Leu)	MLH1 (P252L +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3295057	NM_000249.4(MLH1):c.2227C>G (p.Leu743Val)	MLH1 (L385V +8 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3295056	NM_000249.4(MLH1):c.207_207+1del	MLH1	Deletion (splice donor variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3295055	NM_000249.4(MLH1):c.1668-219G>C	MLH1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3295054	NM_000249.4(MLH1):c.2244T>A (p.Asp748Glu)	MLH1 (D650E +8 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3295053	NM_000249.4(MLH1):c.195C>A (p.Gly65=)	MLH1	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3295052	NM_000249.4(MLH1):c.1203C>A (p.Ser401Arg)	MLH1 (S160R +5 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3295050	NM_000249.4(MLH1):c.151G>A (p.Val51Ile)	MLH1 (V51I)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3295048	NM_000249.4(MLH1):c.1990-3_1990delinsAAGT	MLH1	Indel (splice acceptor variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3295047	NM_000249.4(MLH1):c.461_462insG (p.Asp154fs)	MLH1 (D56fs +2 more)	Insertion (frameshift variant +2 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3295046	NM_000249.4(MLH1):c.1634C>T (p.Thr545Ile)	MLH1 (T187I +5 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3295045	NM_000249.4(MLH1):c.2171dup (p.Leu724fs)	MLH1 (L669fs +8 more)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3295043	NM_000249.4(MLH1):c.757G>A (p.Val253Met)	MLH1 (V155M +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3295040	NM_000249.4(MLH1):c.588+3_588+6del	MLH1	Microsatellite (splice donor variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 3295037	NM_000249.4(MLH1):c.1580A>T (p.Asn527Ile)	MLH1 (N169I +5 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3258044	NM_000249.4(MLH1):c.188A>C (p.Asp63Ala)	MLH1 (D63A)	Single nucleotide variant (missense variant +2 more)	Neoplasm	OUncertain significance
Select item 3257720	NM_000249.4(MLH1):c.1789T>A (p.Trp597Arg)	MLH1 (W356R +5 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GUncertain significance
Select item 3256410	NM_000249.4(MLH1):c.1990-39T>C	MLH1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3256408	NM_000249.4(MLH1):c.1989+31G>A	MLH1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3256407	NM_000249.4(MLH1):c.1409+47T>C	MLH1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3256406	NM_000249.4(MLH1):c.1039-28_1039-27insAAAATATATATATATA	MLH1	Insertion (intron variant)	not specified	GLikely benign
Select item 3256405	NM_000249.4(MLH1):c.885-26_885-23del	MLH1	Deletion (intron variant)	not specified	GLikely benign
Select item 3256404	NM_000249.4(MLH1):c.791-23G>T	MLH1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3256403	NM_000249.4(MLH1):c.790+48A>C	MLH1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3256402	NM_000249.4(MLH1):c.678-8T>C	MLH1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3256400	NM_000249.4(MLH1):c.546-28T>G	MLH1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3256399	NM_000249.4(MLH1):c.454-33T>C	MLH1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3256398	NM_000249.4(MLH1):c.306+6_306+11del	MLH1	Deletion (intron variant)	not specified	GLikely benign
Select item 3254369	NM_000249.4(MLH1):c.1383_1385delinsTT (p.Lys461fs)	MLH1 (K103fs +5 more)	Indel (frameshift variant)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 3246811	NC_000003.11:g.(?_37034542)_(37035174_?)dup	EPM2AIP1, MLH1	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 3246810	NC_000003.11:g.(?_37034289)_(37092144_?)del	EPM2AIP1, MLH1	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3246809	NC_000003.11:g.(?_37034542)_(37035260_?)del	EPM2AIP1, MLH1	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3246808	NC_000003.11:g.(?_37034542)_(37035174_?)del	EPM2AIP1, MLH1	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3246806	NC_000003.11:g.(?_37067426)_(37502150_?)del	APRG1, GOLGA4 +3 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3246805	NC_000003.11:g.(?_37059063)_(37060944_?)del	MLH1	Deletion	Hereditary nonpolyposis colorectal neoplasms	GLikely pathogenic
Select item 3246804	NC_000003.11:g.(?_37038099)_(37038210_?)dup	MLH1	Duplication	Hereditary nonpolyposis colorectal neoplasms	GLikely pathogenic
Select item 3246803	NC_000003.11:g.(?_37053291)_(37070443_?)del	MLH1	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3246802	NC_000003.11:g.(?_37048472)_(37059100_?)del	MLH1	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3246801	NC_000003.11:g.(?_37042436)_(37056045_?)del	MLH1	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3246800	NC_000003.11:g.(?_37042426)_(37050416_?)del	MLH1	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3246799	NC_000003.11:g.(?_37042436)_(37048564_?)del	MLH1	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3246798	NC_000003.11:g.(?_37038099)_(37059100_?)del	MLH1	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3246797	NC_000003.11:g.(?_37083739)_(37092144_?)del	MLH1	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3246795	NC_000003.11:g.(?_36856133)_(37076835_?)del	EPM2AIP1, MLH1 +1 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3246794	NC_000003.11:g.(?_37081657)_(37081805_?)del	MLH1	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3246793	NC_000003.11:g.(?_37067118)_(37067508_?)del	MLH1	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3241950	NM_000249.4(MLH1):c.640G>A (p.Asp214Asn)	MLH1 (D116N +2 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GUncertain significance
Select item 3241949	NM_000249.4(MLH1):c.86C>T (p.Ala29Val)	MLH1 (A29V)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GUncertain significance
Select item 3241948	NM_000249.4(MLH1):c.215A>T (p.Asp72Val)	MLH1 (D72V)	Single nucleotide variant (missense variant +2 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GUncertain significance
Select item 3241946	NM_000249.4(MLH1):c.2172dup (p.Arg725fs)	MLH1 (R367fs +8 more)	Duplication (frameshift variant)	Colorectal cancer, hereditary nonpolyposis, type 2 +1 more	GLikely pathogenic
Select item 3241945	NM_000249.4(MLH1):c.725T>G (p.Met242Arg)	MLH1 (M144R +3 more)	Single nucleotide variant (missense variant +3 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GUncertain significance
Select item 3241944	NM_000249.4(MLH1):c.1742C>A (p.Pro581Gln)	MLH1 (P223Q +5 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GUncertain significance
Select item 3241943	NM_000249.4(MLH1):c.9C>A (p.Phe3Leu)	MLH1 (F3L)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GUncertain significance
Select item 3241942	NM_000249.4(MLH1):c.508A>T (p.Ser170Cys)	MLH1 (S137C +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 3233860	NM_000249.4(MLH1):c.563del (p.Ala188fs)	MLH1 (A155fs +2 more)	Deletion (frameshift variant +1 more)	Hereditary nonpolyposis colon cancer	GPathogenic
Select item 3233742	NC_000003.11:g.(?_37035008)_(37092338_?)dup	MLH1	Duplication	not specified	GUncertain significance
Select item 3230799	NM_000249.4(MLH1):c.921G>A (p.Val307=)	MLH1	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3230798	NM_000249.4(MLH1):c.913del (p.Val305fs)	MLH1 (V207fs +3 more)	Deletion (frameshift variant +2 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3230797	NM_000249.4(MLH1):c.904A>C (p.Asn302His)	MLH1 (N204H +3 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome +1 more	GUncertain significance
Select item 3230796	NM_000249.4(MLH1):c.834_835del (p.Tyr280fs)	MLH1 (Y182fs +3 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3230795	NM_000249.4(MLH1):c.822dup (p.Ala275fs)	MLH1 (A177fs +3 more)	Duplication (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3230794	NM_000249.4(MLH1):c.781T>G (p.Phe261Val)	MLH1 (F163V +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230793	NM_000249.4(MLH1):c.781T>C (p.Phe261Leu)	MLH1 (F163L +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230792	NM_000249.4(MLH1):c.713T>C (p.Leu238Pro)	MLH1 (L140P +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230791	NM_000249.4(MLH1):c.689A>C (p.Glu230Ala)	MLH1 (E132A +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230790	NM_000249.4(MLH1):c.684G>T (p.Leu228=)	MLH1	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3230789	NM_000249.4(MLH1):c.64G>A (p.Gly22Arg)	MLH1 (G22R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance

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