MLH1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 145586	GRCh38/hg38 3p22.3-22.1(chr3:33728406-40662451)x3	ACAA1, ACVR2B +176 more	Copy number gain	See cases	GPathogenic
Select item 154796	GRCh38/hg38 3p22.2(chr3:36828515-37007227)x1	EPM2AIP1, LOC115995508 +17 more	Copy number loss	See cases	GPathogenic
Select item 154691	GRCh38/hg38 3p22.2(chr3:36935294-37058124)x3	EPM2AIP1, LOC115995508 +12 more	Copy number gain	See cases	GBenign
Select item 89596	NM_000249.3(MLH1):c.-54519_1731+2263del	LOC129936470, LOC129936471 +10 more	Deletion	Lynch syndrome	GPathogenic
Select item 89594	NM_014805.4(EPM2AIP1):c.*2570G>T	EPM2AIP1, MLH1	Single nucleotide variant (3 prime UTR variant)	Lynch syndrome	GBenign
Select item 1183730	NM_014805.4(EPM2AIP1):c.123C>G (p.Val41=)	LOC129936471, MLH1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 651256	NC_000003.11:g.(?_37034542)_(37092154_?)dup	EPM2AIP1, LOC129936471 +1 more	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 645371	NC_000003.12:g.(?_36993051)_(37012109_?)del	EPM2AIP1, LOC129936471 +1 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 642035	NC_000003.12:g.(?_36993051)_(36996719_?)del	EPM2AIP1, LOC129936471 +1 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 584333	NC_000003.12:g.(?_36993051)_(37028942_?)del	EPM2AIP1, LOC129936471 +1 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 583896	NC_000003.12:g.(?_36993051)_(37008915_?)del	EPM2AIP1, LOC129936471 +1 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 583740	NC_000003.12:g.(?_36993051)_(37050663_?)del	EPM2AIP1, LOC129936471 +1 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 525977	NC_000003.12:g.(?_36993051)_(37004480_?)del	EPM2AIP1, LOC129936471 +1 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 455073	NC_000003.12:g.(?_36993051)_(37050659_?)del	EPM2AIP1, LOC129936471 +1 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 455071	NC_000003.12:g.(?_36993051)_(37017605_?)del	EPM2AIP1, LOC129936471 +1 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 2183337	NM_014805.4(EPM2AIP1):c.7A>G (p.Met3Val)	EPM2AIP1, LOC129936471 +1 more (M3V)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 3033191	NM_014805.4(EPM2AIP1):c.-47C>T	EPM2AIP1, LOC129936471 +1 more	Single nucleotide variant (5 prime UTR variant)	MLH1-related disorder	GLikely benign
Select item 3050922	NM_014805.4(EPM2AIP1):c.-53T>G	EPM2AIP1, LOC129936471 +1 more	Single nucleotide variant (5 prime UTR variant)	MLH1-related disorder	GLikely benign
Select item 3057019	NM_014805.3(EPM2AIP1):c.-57C>T	LOC129936471, MLH1	Single nucleotide variant	MLH1-related disorder	GLikely benign
Select item 3030490	NM_014805.3(EPM2AIP1):c.-65T>A	LOC129936471, MLH1	Single nucleotide variant	MLH1-related disorder	GLikely benign
Select item 3032195	NM_014805.3(EPM2AIP1):c.-70G>C	LOC129936471, MLH1	Single nucleotide variant	MLH1-related disorder	GLikely benign
Select item 89592	NM_000249.3(MLH1):c.-381_207+606del	LOC129936471, MLH1	Deletion (genic upstream transcript variant)	Lynch syndrome	GPathogenic
Select item 2074190	NM_014805.3(EPM2AIP1):c.-102T>C	LOC129936471, MLH1	Single nucleotide variant	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 823690	NM_014805.3(EPM2AIP1):c.-134G>A	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 229917	NM_014805.3(EPM2AIP1):c.-137G>A	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 232032	NM_014805.3(EPM2AIP1):c.-139G>A	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1729706	NM_014805.3(EPM2AIP1):c.-144G>C	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 823360	NM_014805.3(EPM2AIP1):c.-145G>A	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 823333	NM_014805.3(EPM2AIP1):c.-146A>G	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1729383	NM_014805.3(EPM2AIP1):c.-147T>C	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1728920	NM_014805.3(EPM2AIP1):c.-151C>G	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1727445	NM_014805.3(EPM2AIP1):c.-163C>T	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1727361	NM_014805.3(EPM2AIP1):c.-164A>T	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1799257	NM_014805.3(EPM2AIP1):c.-167A>T	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 822588	NM_014805.3(EPM2AIP1):c.-190_-170del21	MLH1	Deletion	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 141917	NM_014805.3(EPM2AIP1):c.-168G>A	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1799009	NM_014805.3(EPM2AIP1):c.-169G>T	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 822658	NM_014805.3(EPM2AIP1):c.-169G>A	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1798893	NM_014805.3(EPM2AIP1):c.-170G>A	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 822569	NM_014805.3(EPM2AIP1):c.-171G>C	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 822494	NM_014805.3(EPM2AIP1):c.-172C>T	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1798492	NM_014805.3(EPM2AIP1):c.-173T>C	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1798159	NM_014805.3(EPM2AIP1):c.-176A>T	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1798022	NM_014805.3(EPM2AIP1):c.-177G>C	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 822334	NM_014805.3(EPM2AIP1):c.-178G>A	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1797155	NM_014805.3(EPM2AIP1):c.-184delT	MLH1	Deletion	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 141675	NM_014805.3(EPM2AIP1):c.-183T>C	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 821874	NM_014805.3(EPM2AIP1):c.-185G>A	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 821912	NM_014805.3(EPM2AIP1):c.-186C>G	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 821909	NM_014805.3(EPM2AIP1):c.-186C>T	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 232066	NM_014805.3(EPM2AIP1):c.-186C>A	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 821831	NM_014805.3(EPM2AIP1):c.-203_-191delCGCTCTTCCTATT	MLH1	Deletion	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 229797	NM_014805.3(EPM2AIP1):c.-191T>C	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 141996	NM_014805.3(EPM2AIP1):c.-192T>C	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 821755	NM_014805.3(EPM2AIP1):c.-197T>G	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 821746	NM_014805.3(EPM2AIP1):c.-198T>C	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1795061	NM_014805.3(EPM2AIP1):c.-201C>T	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1794883	NM_014805.3(EPM2AIP1):c.-202G>A	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 89588	NM_014805.3(EPM2AIP1):c.-202G>C	EPM2AIP1, MLH1	Single nucleotide variant	Lynch syndrome	GLikely benign
Select item 1794532	NM_014805.3(EPM2AIP1):c.-205T>C	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1794426	NM_014805.3(EPM2AIP1):c.-206G>T	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 821604	NM_014805.3(EPM2AIP1):c.-208delC	MLH1	Deletion	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1794032	NM_014805.3(EPM2AIP1):c.-209G>A	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 821564	NM_014805.3(EPM2AIP1):c.-209G>T	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 821581	NM_014805.3(EPM2AIP1):c.-210C>A	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 142740	NM_014805.3(EPM2AIP1):c.-210C>T	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 821477	NM_014805.3(EPM2AIP1):c.-216_-215AG[3]	MLH1	Microsatellite	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 821549	NM_014805.3(EPM2AIP1):c.-212A>G	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1793479	NM_014805.3(EPM2AIP1):c.-213G>T	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1793365	NM_014805.3(EPM2AIP1):c.-214A>G	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 821517	NM_014805.3(EPM2AIP1):c.-214A>C	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1793215	NM_014805.3(EPM2AIP1):c.-215G>T	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 821501	NM_014805.3(EPM2AIP1):c.-215delG	MLH1	Deletion	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1792926	NM_014805.3(EPM2AIP1):c.-217T>C	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 821415	NM_014805.3(EPM2AIP1):c.-218T>G	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 821435	NM_014805.3(EPM2AIP1):c.-219G>A	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 141497	NM_014805.3(EPM2AIP1):c.-219G>T	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 141417	NM_014805.3(EPM2AIP1):c.-220C>A	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1792366	NM_014805.3(EPM2AIP1):c.-221G>T	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 821390	NM_014805.3(EPM2AIP1):c.-222C>G	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 186425	NM_014805.3(EPM2AIP1):c.-223G>C	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 185671	NM_014805.3(EPM2AIP1):c.-227G>A	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1791313	NM_000249.3(MLH1):c.-243G>C	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1790990	NM_000249.3(MLH1):c.-241A>T	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 821254	NM_000249.3(MLH1):c.-241A>G	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1790148	NM_000249.3(MLH1):c.-235T>G	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 821152	NM_000249.3(MLH1):c.-235T>A	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 821120	NM_000249.3(MLH1):c.-233C>T	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 821119	NM_000249.3(MLH1):c.-233C>G	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 142669	NM_000249.3(MLH1):c.-230G>C	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1789235	NM_000249.3(MLH1):c.-229G>A	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 821014	NM_000249.3(MLH1):c.-227A>G	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 820965	NM_000249.3(MLH1):c.-224G>T	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 820943	NM_000249.3(MLH1):c.-223G>T	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 820942	NM_000249.3(MLH1):c.-223G>A	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 820906	NM_000249.3(MLH1):c.-222G>A	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 185544	NM_000249.3(MLH1):c.-221C>T	MLH1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance

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