LRRFIP2[gene] - ClinVar

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Items: 63

	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 154691	GRCh38/hg38 3p22.2(chr3:36935294-37058124)x3	EPM2AIP1, LOC115995508 +12 more	Copy number gain	See cases	GBenign
Select item 29655	NC_000003.11:g.37089454_37101079del	LRRFIP2, MLH1	Deletion	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 89585	NM_006309.4(LRRFIP2):c.*272G>A	LRRFIP2, MLH1	Single nucleotide variant (3 prime UTR variant)	Lynch syndrome	GBenign
Select item 2550228	NM_006309.4(LRRFIP2):c.2161C>G (p.Gln721Glu)	LRRFIP2 (Q465E +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393443	NM_006309.4(LRRFIP2):c.2117G>A (p.Arg706Gln)	LRRFIP2 (R477Q +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347587	NM_006309.4(LRRFIP2):c.1958G>A (p.Arg653Gln)	LRRFIP2 (R332Q +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347012	NM_006309.4(LRRFIP2):c.1930A>G (p.Ile644Val)	LRRFIP2 (I323V +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535956	NM_006309.4(LRRFIP2):c.1800G>T (p.Arg600Ser)	LRRFIP2 (R429S +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535955	NM_006309.4(LRRFIP2):c.1799G>A (p.Arg600Lys)	LRRFIP2 (R344K +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791917	NM_006309.4(LRRFIP2):c.1792T>G (p.Cys598Gly)	LRRFIP2 (C345G +11 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2385000	NM_006309.4(LRRFIP2):c.1784G>A (p.Arg595Gln)	LRRFIP2 (R339Q +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291811	NM_006309.4(LRRFIP2):c.1652C>T (p.Ser551Phe)	LRRFIP2 (S254F +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259741	NM_006309.4(LRRFIP2):c.1643C>G (p.Thr548Ser)	LRRFIP2 (T285S +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121056	NM_006309.4(LRRFIP2):c.1604A>G (p.Asn535Ser)	LRRFIP2 (N272S +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291810	NM_006309.4(LRRFIP2):c.1513G>A (p.Asp505Asn)	LRRFIP2 (D218N +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398452	NM_006309.4(LRRFIP2):c.1484A>G (p.Glu495Gly)	LRRFIP2 (E208G +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291812	NM_006309.4(LRRFIP2):c.1444T>C (p.Trp482Arg)	LRRFIP2 (W482R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291809	NM_006309.4(LRRFIP2):c.1393A>C (p.Lys465Gln)	LRRFIP2 (K281Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271052	NM_006309.4(LRRFIP2):c.1069G>A (p.Val357Ile)	LRRFIP2 (V357I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491460	NM_006309.4(LRRFIP2):c.1066G>A (p.Asp356Asn)	LRRFIP2 (D124N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391083	NM_006309.4(LRRFIP2):c.1034G>A (p.Arg345Gln)	LRRFIP2 (R147Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291808	NM_006309.4(LRRFIP2):c.943G>A (p.Ala315Thr)	LRRFIP2 (A117T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487407	NM_006309.4(LRRFIP2):c.913A>C (p.Thr305Pro)	LRRFIP2 (T305P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775853	NM_006309.4(LRRFIP2):c.866T>C (p.Leu289Ser)	LRRFIP2 (L243S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2538610	NM_006309.4(LRRFIP2):c.796G>T (p.Asp266Tyr)	LRRFIP2 (D220Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121060	NM_006309.4(LRRFIP2):c.770G>A (p.Arg257Gln)	LRRFIP2 (R147Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2213393	NM_006309.4(LRRFIP2):c.749C>G (p.Ser250Cys)	LRRFIP2 (S204C +2 more)	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 2216916	NM_006309.4(LRRFIP2):c.712G>A (p.Gly238Arg)	LRRFIP2 (G128R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516975	NM_006309.4(LRRFIP2):c.701G>A (p.Arg234Gln)	LRRFIP2 (R234Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528819	NM_006309.4(LRRFIP2):c.697G>T (p.Ala233Ser)	LRRFIP2 (A187S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389988	NM_006309.4(LRRFIP2):c.623A>G (p.Asn208Ser)	LRRFIP2 (N120S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2598132	NM_006309.4(LRRFIP2):c.547A>G (p.Thr183Ala)	LRRFIP2 (T152A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121059	NM_006309.4(LRRFIP2):c.453T>G (p.Phe151Leu)	LRRFIP2 (F120L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280940	NM_006309.4(LRRFIP2):c.407A>C (p.Lys136Thr)	LRRFIP2 (K136T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272979	NM_006309.4(LRRFIP2):c.392C>G (p.Ser131Cys)	LRRFIP2 (S131C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488462	NM_006309.4(LRRFIP2):c.319G>C (p.Gly107Arg)	LRRFIP2 (G90R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493817	NM_006309.4(LRRFIP2):c.274C>T (p.Arg92Cys)	LRRFIP2 (R75C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479726	NM_006309.4(LRRFIP2):c.263C>T (p.Ser88Phe)	LRRFIP2 (S71F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364179	NM_006309.4(LRRFIP2):c.256C>T (p.His86Tyr)	LRRFIP2 (H69Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291814	NM_006309.4(LRRFIP2):c.244G>C (p.Ala82Pro)	LRRFIP2 (A82P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121057	NM_006309.4(LRRFIP2):c.236C>T (p.Ser79Leu)	LRRFIP2 (S79L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226745	NM_006309.4(LRRFIP2):c.215T>C (p.Ile72Thr)	LRRFIP2 (I72T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314568	NM_006309.4(LRRFIP2):c.196G>C (p.Asp66His)	LRRFIP2 (D66H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245400	NM_006309.4(LRRFIP2):c.195T>G (p.Phe65Leu)	LRRFIP2 (F65L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291813	NM_006309.4(LRRFIP2):c.101G>A (p.Arg34Lys)	LRRFIP2 (R34K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 91970	NM_006309.4(LRRFIP2):c.90+1G>C	LRRFIP2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3246806	NC_000003.11:g.(?_37067426)_(37502150_?)del	APRG1, GOLGA4 +3 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
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 1457251	NC_000003.11:g.(?_37092052)_(37100470_?)del	LRRFIP2, MLH1	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 1455527	NC_000003.11:g.(?_16710965)_(41275270_?)del	AZI2, CCR4 +93 more	Deletion	not provided	GPathogenic
Select item 1373543	NC_000003.11:g.(?_37034542)_(38835501_?)dup	GOLGA4, MIR26A1 +19 more	Duplication	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 814434	GRCh37/hg19 3p22.2(chr3:36948416-37788630)x3	APRG1, EPM2AIP1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 625694	GRCh37/hg19 3p22.2(chr3:37089011-37116538)	LRRFIP2, MLH1	Copy number loss	Muir-Torré syndrome	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 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	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +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

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Items: 63