ClinVar for Gene (Select 9852) - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3276035	NM_014805.4(EPM2AIP1):c.1228G>A (p.Asp410Asn)	EPM2AIP1 (D410N)	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 3276033	NM_014805.4(EPM2AIP1):c.433T>G (p.Leu145Val)	EPM2AIP1, LOC129936470 (L145V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276032	NM_014805.4(EPM2AIP1):c.1177G>A (p.Glu393Lys)	EPM2AIP1 (E393K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3246795	NC_000003.11:g.(?_36856133)_(37076835_?)del	EPM2AIP1, MLH1 +1 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3089740	NM_014805.4(EPM2AIP1):c.968C>T (p.Thr323Met)	EPM2AIP1 (T323M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089739	NM_014805.4(EPM2AIP1):c.513C>A (p.Asp171Glu)	EPM2AIP1, LOC129936470 (D171E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089737	NM_014805.4(EPM2AIP1):c.418C>G (p.Leu140Val)	EPM2AIP1, LOC129936470 (L140V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3089735	NM_014805.4(EPM2AIP1):c.1615A>G (p.Ile539Val)	EPM2AIP1 (I539V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089734	NM_014805.4(EPM2AIP1):c.1217C>T (p.Ala406Val)	EPM2AIP1 (A406V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089733	NM_014805.4(EPM2AIP1):c.1094T>C (p.Val365Ala)	EPM2AIP1 (V365A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062747	GRCh37/hg19 3p22.3-22.2(chr3:35969734-37443324)x3	APRG1, DCLK3 +6 more	Copy number gain	not specified	GUncertain significance
Select item 3062694	GRCh37/hg19 3p22.3-22.2(chr3:35970901-37455657)x3	APRG1, DCLK3 +6 more	Copy number gain	not specified	GUncertain significance
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 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 2616476	NM_014805.4(EPM2AIP1):c.467G>A (p.Ser156Asn)	EPM2AIP1, LOC129936470 (S156N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2612417	NM_014805.4(EPM2AIP1):c.307G>A (p.Gly103Arg)	EPM2AIP1 (G103R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612343	NM_014805.4(EPM2AIP1):c.1697G>A (p.Arg566Gln)	EPM2AIP1 (R566Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597911	NM_014805.4(EPM2AIP1):c.362T>C (p.Val121Ala)	EPM2AIP1, LOC129936470 (V121A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554478	NM_014805.4(EPM2AIP1):c.1414G>C (p.Glu472Gln)	EPM2AIP1 (E472Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518929	NM_014805.4(EPM2AIP1):c.513C>G (p.Asp171Glu)	EPM2AIP1, LOC129936470 (D171E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518927	NM_014805.4(EPM2AIP1):c.487A>C (p.Asn163His)	EPM2AIP1, LOC129936470 (N163H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422647	NC_000003.11:g.(?_37034542)_(37035260_?)dup	EPM2AIP1, MLH1	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2422645	NC_000003.11:g.(?_37034542)_(37035164_?)del	EPM2AIP1, MLH1	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 2422638	NC_000003.11:g.(?_37034542)_(37042554_?)del	EPM2AIP1, MLH1	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 2422637	NC_000003.11:g.(?_37034542)_(37061964_?)del	EPM2AIP1, MLH1	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 2397899	NM_014805.4(EPM2AIP1):c.1492T>C (p.Tyr498His)	EPM2AIP1 (Y498H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323014	NM_014805.4(EPM2AIP1):c.253G>C (p.Asp85His)	EPM2AIP1 (D85H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311300	NM_014805.4(EPM2AIP1):c.340G>A (p.Gly114Ser)	EPM2AIP1 (G114S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307922	NM_014805.4(EPM2AIP1):c.520G>A (p.Ala174Thr)	EPM2AIP1, LOC129936470 (A174T)	Single nucleotide variant (missense variant)	not specified	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 2287829	NM_014805.4(EPM2AIP1):c.1753C>T (p.Arg585Trp)	EPM2AIP1 (R585W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260294	NM_014805.4(EPM2AIP1):c.493C>T (p.Leu165Phe)	EPM2AIP1, LOC129936470 (L165F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2245611	NM_014805.4(EPM2AIP1):c.269C>T (p.Ser90Phe)	EPM2AIP1 (S90F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242491	NM_014805.4(EPM2AIP1):c.232G>T (p.Val78Leu)	EPM2AIP1 (V78L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219076	NM_014805.4(EPM2AIP1):c.902T>C (p.Ile301Thr)	EPM2AIP1 (I301T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217611	NM_014805.4(EPM2AIP1):c.548C>T (p.Ala183Val)	EPM2AIP1, LOC129936470 (A183V)	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 1808294	GRCh37/hg19 3p22.2(chr3:36948417-37028790)x1	EPM2AIP1, TRANK1	Copy number loss	not provided	GUncertain significance
Select item 1455527	NC_000003.11:g.(?_16710965)_(41275270_?)del	ACAA1, ACVR2B +93 more	Deletion	not provided	GPathogenic
Select item 1454711	NC_000003.11:g.(?_37034542)_(37059100_?)del	EPM2AIP1, MLH1	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 1373543	NC_000003.11:g.(?_37034542)_(38835501_?)dup	ACAA1, ACVR2B +19 more	Duplication	Heterotaxy, visceral, 4, autosomal	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 832694	NC_000003.12:g.(?_36993051)_(36993673_?)dup	EPM2AIP1, MLH1	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 832173	NC_000003.12:g.(?_36993051)_(37050653_?)dup	EPM2AIP1, MLH1	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 830919	NC_000003.12:g.(?_36993031)_(37050673_?)del	EPM2AIP1, MLH1	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 814434	GRCh37/hg19 3p22.2(chr3:36948416-37788630)x3	APRG1, EPM2AIP1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 787011	NM_014805.4(EPM2AIP1):c.385C>T (p.Leu129=)	EPM2AIP1, LOC129936470	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 562760	GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3	ABHD5, ACAA1 +135 more	Copy number gain	not provided	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 455070	NC_000003.11:g.(?_37034542)_(37050402_?)del	EPM2AIP1, MLH1	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	ANKRD28, APRG1 +155 more	Copy number gain	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic
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 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 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 89596	NM_000249.3(MLH1):c.-54519_1731+2263del	LOC129936470, LOC129936471 +10 more	Deletion	Lynch syndrome	GPathogenic
Select item 89594	NM_000249.3(MLH1):c.-4864C>A	EPM2AIP1, MLH1	Single nucleotide variant (3 prime UTR variant)	Lynch syndrome	GBenign
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 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic

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Items: 77