LCMT2[gene] - ClinVar

Search results

Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148856	GRCh38/hg38 15q15.2-15.3(chr15:42566761-43847106)x1	ADAL, CATSPER2 +69 more	Copy number loss	See cases	GLikely pathogenic
Select item 154069	GRCh38/hg38 15q15.2-15.3(chr15:42785627-43342260)x1	ADAL, CCNDBP1 +18 more	Copy number loss	See cases	GPathogenic
Select item 154715	GRCh38/hg38 15q15.2-15.3(chr15:43298918-43558944)x3	ADAL, LCMT2 +11 more	Copy number gain	See cases	GBenign
Select item 3290283	NM_014793.5(LCMT2):c.2008T>C (p.Phe670Leu)	LCMT2 (F670L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457112	NM_014793.5(LCMT2):c.1981G>C (p.Gly661Arg)	LCMT2 (G661R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330919	NM_014793.5(LCMT2):c.1871G>A (p.Ser624Asn)	LCMT2 (S624N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330392	NM_014793.5(LCMT2):c.1820A>G (p.His607Arg)	LCMT2 (H607R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290280	NM_014793.5(LCMT2):c.1702A>G (p.Ile568Val)	LCMT2 (I568V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551674	NM_014793.5(LCMT2):c.1699C>T (p.Pro567Ser)	LCMT2 (P567S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243339	NM_014793.5(LCMT2):c.1657G>A (p.Gly553Arg)	LCMT2 (G553R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319896	NM_014793.5(LCMT2):c.1642A>T (p.Ile548Phe)	LCMT2 (I548F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290277	NM_014793.5(LCMT2):c.1631G>A (p.Gly544Glu)	LCMT2 (G544E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492064	NM_014793.5(LCMT2):c.1621A>G (p.Thr541Ala)	LCMT2 (T541A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233300	NM_014793.5(LCMT2):c.1591C>T (p.Pro531Ser)	LCMT2 (P531S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118092	NM_014793.5(LCMT2):c.1559C>T (p.Ala520Val)	LCMT2 (A520V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118091	NM_014793.5(LCMT2):c.1550G>A (p.Gly517Glu)	LCMT2 (G517E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3118090	NM_014793.5(LCMT2):c.1543C>T (p.His515Tyr)	LCMT2 (H515Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487605	NM_014793.5(LCMT2):c.1507G>A (p.Val503Met)	LCMT2 (V503M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118089	NM_014793.5(LCMT2):c.1444C>A (p.His482Asn)	LCMT2 (H482N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589582	NM_014793.5(LCMT2):c.1427C>G (p.Thr476Ser)	LCMT2 (T476S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290287	NM_014793.5(LCMT2):c.1384C>G (p.Leu462Val)	LCMT2 (L462V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290286	NM_014793.5(LCMT2):c.1379A>C (p.Glu460Ala)	LCMT2 (E460A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290281	NM_014793.5(LCMT2):c.1345C>T (p.Leu449Phe)	LCMT2 (L449F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226823	NM_014793.5(LCMT2):c.1288G>A (p.Val430Ile)	LCMT2 (V430I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118088	NM_014793.5(LCMT2):c.1174C>T (p.Leu392Phe)	LCMT2 (L392F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374860	NM_014793.5(LCMT2):c.1164G>C (p.Gln388His)	LCMT2 (Q388H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546163	NM_014793.5(LCMT2):c.1094T>C (p.Leu365Ser)	LCMT2 (L365S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600057	NM_014793.5(LCMT2):c.1087G>A (p.Val363Ile)	LCMT2 (V363I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313328	NM_014793.5(LCMT2):c.1072T>G (p.Tyr358Asp)	LCMT2 (Y358D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319043	NM_014793.5(LCMT2):c.941G>A (p.Gly314Glu)	LCMT2 (G314E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304210	NM_014793.5(LCMT2):c.932C>T (p.Ala311Val)	LCMT2 (A311V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549390	NM_014793.5(LCMT2):c.910G>T (p.Ala304Ser)	LCMT2 (A304S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290279	NM_014793.5(LCMT2):c.875C>T (p.Pro292Leu)	LCMT2 (P292L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118104	NM_014793.5(LCMT2):c.874C>T (p.Pro292Ser)	LCMT2 (P292S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236991	NM_014793.5(LCMT2):c.823T>C (p.Tyr275His)	LCMT2 (Y275H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608345	NM_014793.5(LCMT2):c.779A>C (p.Gln260Pro)	LCMT2 (Q260P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558609	NM_014793.5(LCMT2):c.775C>G (p.Leu259Val)	LCMT2 (L259V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339263	NM_014793.5(LCMT2):c.774C>A (p.Phe258Leu)	LCMT2 (F258L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339262	NM_014793.5(LCMT2):c.773T>A (p.Phe258Tyr)	LCMT2 (F258Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408287	NM_014793.5(LCMT2):c.675C>A (p.Asp225Glu)	LCMT2 (D225E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460840	NM_014793.5(LCMT2):c.668C>T (p.Pro223Leu)	LCMT2 (P223L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466180	NM_014793.5(LCMT2):c.661A>C (p.Met221Leu)	LCMT2 (M221L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118102	NM_014793.5(LCMT2):c.653A>G (p.Tyr218Cys)	LCMT2 (Y218C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118101	NM_014793.5(LCMT2):c.637G>T (p.Ala213Ser)	LCMT2 (A213S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525376	NM_014793.5(LCMT2):c.635A>G (p.Asn212Ser)	LCMT2 (N212S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535000	NM_014793.5(LCMT2):c.631C>T (p.Pro211Ser)	LCMT2 (P211S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2645272	NM_014793.5(LCMT2):c.590A>C (p.Glu197Ala)	LCMT2 (E197A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2553301	NM_014793.5(LCMT2):c.559G>T (p.Ala187Ser)	LCMT2 (A187S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487893	NM_014793.5(LCMT2):c.556C>G (p.Leu186Val)	LCMT2 (L186V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118100	NM_014793.5(LCMT2):c.553C>A (p.Leu185Ile)	LCMT2 (L185I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270833	NM_014793.5(LCMT2):c.547A>G (p.Thr183Ala)	LCMT2 (T183A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549355	NM_014793.5(LCMT2):c.532G>C (p.Asp178His)	LCMT2 (D178H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118099	NM_014793.5(LCMT2):c.529C>T (p.Leu177Phe)	LCMT2 (L177F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118098	NM_014793.5(LCMT2):c.527G>A (p.Gly176Glu)	LCMT2 (G176E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404607	NM_014793.5(LCMT2):c.517G>A (p.Gly173Ser)	LCMT2 (G173S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595952	NM_014793.5(LCMT2):c.511G>T (p.Ala171Ser)	LCMT2 (A171S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277781	NM_014793.5(LCMT2):c.509A>C (p.Glu170Ala)	LCMT2 (E170A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562729	NM_014793.5(LCMT2):c.464A>C (p.Tyr155Ser)	LCMT2 (Y155S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402170	NM_014793.5(LCMT2):c.443T>C (p.Leu148Pro)	LCMT2 (L148P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608832	NM_014793.5(LCMT2):c.430C>T (p.Pro144Ser)	LCMT2 (P144S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465414	NM_014793.5(LCMT2):c.422G>T (p.Arg141Met)	LCMT2 (R141M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290278	NM_014793.5(LCMT2):c.388C>G (p.Pro130Ala)	LCMT2 (P130A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290284	NM_014793.5(LCMT2):c.367G>C (p.Ala123Pro)	LCMT2 (A123P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253638	NM_014793.5(LCMT2):c.319C>G (p.Arg107Gly)	LCMT2 (R107G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3118097	NM_014793.5(LCMT2):c.269C>G (p.Ala90Gly)	LCMT2 (A90G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118096	NM_014793.5(LCMT2):c.269C>A (p.Ala90Asp)	LCMT2 (A90D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118095	NM_014793.5(LCMT2):c.244C>T (p.Arg82Cys)	LCMT2 (R82C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290285	NM_014793.5(LCMT2):c.239C>T (p.Ala80Val)	LCMT2 (A80V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401764	NM_014793.5(LCMT2):c.218A>C (p.Gln73Pro)	LCMT2 (Q73P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299259	NM_014793.5(LCMT2):c.192G>C (p.Arg64Ser)	LCMT2 (R64S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249009	NM_014793.5(LCMT2):c.163G>A (p.Gly55Ser)	LCMT2 (G55S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363683	NM_014793.5(LCMT2):c.145G>C (p.Ala49Pro)	LCMT2 (A49P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209117	NM_014793.5(LCMT2):c.137C>T (p.Ala46Val)	LCMT2, MAPDA (A46V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2209731	NM_014793.5(LCMT2):c.134C>T (p.Ala45Val)	LCMT2, MAPDA (A45V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2351505	NM_014793.5(LCMT2):c.109T>C (p.Phe37Leu)	LCMT2, MAPDA (F37L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2369620	NM_014793.5(LCMT2):c.37G>C (p.Val13Leu)	LCMT2, MAPDA (V13L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2207081	NM_014793.5(LCMT2):c.4G>A (p.Gly2Ser)	LCMT2, MAPDA (G2S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 1526448	GRCh37/hg19 15q15.2-15.3(chr15:43268878-43744411)	ADAL, CCNDBP1 +9 more	Copy number gain	not specified	GUncertain significance
Select item 1526447	GRCh37/hg19 15q15.2-21.2(chr15:42850434-49592633)	BLOC1S6, C15orf48 +61 more	Copy number loss	not specified	GPathogenic
Select item 1341068	GRCh37/hg19 15q15.2-15.3(chr15:43215243-44632384)x1	ADAL, CATSPER2 +24 more	Copy number loss	not provided	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980033	GRCh37/hg19 15q15.2-15.3(chr15:43135272-43744542)x1	TGM7, TP53BP1 +10 more	Copy number loss	not provided	GLikely pathogenic
Select item 815709	GRCh37/hg19 15q15.2-15.3(chr15:43420601-44198616)x3	TGM5, PDIA3 +22 more	Copy number gain	not provided	GUncertain significance
Select item 815707	GRCh37/hg19 15q15.2-15.3(chr15:43017718-43685171)x3	EPB42, TGM5 +10 more	Copy number gain	not provided	GUncertain significance
Select item 688815	GRCh37/hg19 15q15.2-15.3(chr15:43062580-43744411)x1	ADAL, CCNDBP1 +10 more	Copy number loss	not provided	GUncertain significance
Select item 687806	GRCh37/hg19 15q15.2-15.3(chr15:43062580-43737484)x1	ADAL, CCNDBP1 +10 more	Copy number loss	not provided	GUncertain significance
Select item 687568	GRCh37/hg19 15q15.2-15.3(chr15:43277078-43634358)x3	ADAL, CCNDBP1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 687483	GRCh37/hg19 15q15.2-15.3(chr15:43118272-43668969)x3	ADAL, CCNDBP1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395389	GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1	ADAL, AFG2B +107 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic

ClinVar

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Items: 96