LOC129936471[gene] - ClinVar

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Items: 29

	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 3089736	NM_014805.4(EPM2AIP1):c.167G>A (p.Arg56His)	EPM2AIP1, LOC129936471 (R56H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276034	NM_014805.4(EPM2AIP1):c.128G>A (p.Arg43His)	EPM2AIP1, LOC129936471 (R43H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1183730	NC_000003.12:g.36992955G>C	EPM2AIP1, LOC129936471 +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 2245999	NM_014805.4(EPM2AIP1):c.26A>G (p.Lys9Arg)	EPM2AIP1, LOC129936471 (K9R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2183337	NC_000003.12:g.36993071T>C	EPM2AIP1, LOC129936471 +1 more (M3V)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2303515	NM_014805.4(EPM2AIP1):c.4T>C (p.Trp2Arg)	EPM2AIP1, LOC129936471 (W2R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033191	NC_000003.12:g.36993124G>A	EPM2AIP1, LOC129936471 +1 more	Single nucleotide variant (5 prime UTR variant)	MLH1-related disorder	GLikely benign
Select item 3050922	NC_000003.12:g.36993130A>C	EPM2AIP1, LOC129936471 +1 more	Single nucleotide variant (5 prime UTR variant)	MLH1-related disorder	GLikely benign
Select item 3057019	NC_000003.12:g.36993134G>A	LOC129936471, MLH1	Single nucleotide variant	MLH1-related disorder	GLikely benign
Select item 3030490	NC_000003.12:g.36993142A>T	LOC129936471, MLH1	Single nucleotide variant	MLH1-related disorder	GLikely benign
Select item 3032195	NC_000003.12:g.36993147C>G	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	NC_000003.12:g.36993179A>G	LOC129936471, MLH1	Single nucleotide variant	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance

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Items: 29