LTF[gene] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 3292280	NM_002343.6(LTF):c.1964C>A (p.Ser655Tyr)	LTF (S653Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469042	NM_002343.6(LTF):c.1957T>C (p.Phe653Leu)	LTF (F609L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236774	NM_002343.6(LTF):c.1943A>G (p.Asp648Gly)	LTF (D646G +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2351894	NM_002343.6(LTF):c.1880G>A (p.Arg627His)	LTF (R614H +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2383724	NM_002343.6(LTF):c.1865T>G (p.Met622Arg)	LTF (M622R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653732	NM_002343.6(LTF):c.1841C>T (p.Pro614Leu)	LTF (P570L +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3121477	NM_002343.6(LTF):c.1826A>G (p.His609Arg)	LTF (H596R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121476	NM_002343.6(LTF):c.1786G>A (p.Asp596Asn)	LTF (D583N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653733	NM_002343.6(LTF):c.1704T>C (p.Thr568=)	LTF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738852	NM_002343.6(LTF):c.1662G>C (p.Leu554=)	LTF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2407938	NM_002343.6(LTF):c.1654C>T (p.Arg552Trp)	LTF (R539W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292283	NM_002343.6(LTF):c.1619G>A (p.Ser540Asn)	LTF (S538N +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2610655	NM_002343.6(LTF):c.1602T>G (p.Asn534Lys)	LTF (N490K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 746010	NM_002343.6(LTF):c.1587C>T (p.Asp529=)	LTF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2457157	NM_002343.6(LTF):c.1564C>T (p.Leu522Phe)	LTF (L478F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495853	NM_002343.6(LTF):c.1544G>T (p.Gly515Val)	LTF (G502V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301616	NM_002343.6(LTF):c.1505G>A (p.Cys502Tyr)	LTF (C489Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121475	NM_002343.6(LTF):c.1492C>G (p.Gln498Glu)	LTF (Q454E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 721972	NM_002343.6(LTF):c.1444G>T (p.Val482Leu)	LTF (V438L +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2352141	NM_002343.6(LTF):c.1373C>T (p.Ala458Val)	LTF (A458V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785795	NM_002343.6(LTF):c.1351G>A (p.Val451Met)	LTF (V438M +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2249670	NM_002343.6(LTF):c.1348C>A (p.Pro450Thr)	LTF (P448T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292284	NM_002343.6(LTF):c.1298A>G (p.Asn433Ser)	LTF (N420S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121474	NM_002343.6(LTF):c.1270T>C (p.Cys424Arg)	LTF (C411R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260109	NM_002343.6(LTF):c.1213A>G (p.Lys405Glu)	LTF (K361E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247807	NM_002343.6(LTF):c.1162G>A (p.Val388Met)	LTF (V344M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256755	NM_002343.6(LTF):c.1160G>T (p.Ser387Ile)	LTF (S374I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121473	NM_002343.6(LTF):c.1106T>C (p.Val369Ala)	LTF (V325A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121472	NM_002343.6(LTF):c.1103C>T (p.Ala368Val)	LTF (A324V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309907	NM_002343.6(LTF):c.1090G>T (p.Val364Phe)	LTF (V351F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256427	NM_002343.6(LTF):c.1079G>C (p.Arg360Pro)	LTF (R316P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343550	NM_002343.6(LTF):c.1078C>T (p.Arg360Trp)	LTF (R316W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121470	NM_002343.6(LTF):c.1072G>A (p.Ala358Thr)	LTF (A358T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602578	NM_002343.6(LTF):c.1068A>C (p.Glu356Asp)	LTF (E312D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360622	NM_002343.6(LTF):c.1030T>C (p.Phe344Leu)	LTF (F300L +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3121482	NM_002343.6(LTF):c.908C>T (p.Pro303Leu)	LTF (P259L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121481	NM_002343.6(LTF):c.908C>G (p.Pro303Arg)	LTF (P290R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653734	NM_002343.6(LTF):c.882G>A (p.Gln294=)	LTF	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2364601	NM_002343.6(LTF):c.764G>A (p.Arg255Gln)	LTF (R255Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359081	NM_002343.6(LTF):c.756C>A (p.Asp252Glu)	LTF (D208E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292281	NM_002343.6(LTF):c.737A>G (p.Tyr246Cys)	LTF (Y246C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121479	NM_002343.6(LTF):c.673G>A (p.Val225Met)	LTF (V181M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227633	NM_002343.6(LTF):c.644T>C (p.Phe215Ser)	LTF (F171S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375742	NM_002343.6(LTF):c.569G>A (p.Arg190His)	LTF (R190H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357336	NM_002343.6(LTF):c.552G>T (p.Gln184His)	LTF (Q140H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785796	NM_002343.6(LTF):c.522C>T (p.Ala174=)	LTF	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2346855	NM_002343.6(LTF):c.473C>T (p.Thr158Met)	LTF (T158M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336071	NM_002343.6(LTF):c.446G>A (p.Gly149Glu)	LTF (G105E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731672	NM_002343.6(LTF):c.417C>A (p.Arg139=)	LTF	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2286681	NM_002343.6(LTF):c.382C>A (p.Leu128Met)	LTF (L115M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461702	NM_002343.6(LTF):c.361G>A (p.Gly121Ser)	LTF (G108S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 743969	NM_002343.6(LTF):c.294G>A (p.Ala98=)	LTF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3292282	NM_002343.6(LTF):c.290C>T (p.Ala97Val)	LTF (A53V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2400873	NM_002343.6(LTF):c.287T>C (p.Val96Ala)	LTF (V83A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276170	NM_002343.6(LTF):c.283C>T (p.Pro95Ser)	LTF (P51S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588035	NM_002343.6(LTF):c.206C>T (p.Ala69Val)	LTF (A56V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270666	NM_002343.6(LTF):c.202A>G (p.Ile68Val)	LTF (I68V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785048	NM_002343.6(LTF):c.185T>A (p.Ile62Asn)	LTF (I49N +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2360976	NM_002343.6(LTF):c.146G>A (p.Arg49His)	LTF (R36H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372150	NM_002343.6(LTF):c.145C>T (p.Arg49Cys)	LTF (R49C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 753993	NM_002343.6(LTF):c.93C>T (p.Ser31=)	LTF	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3121480	NM_002343.6(LTF):c.88G>C (p.Val30Leu)	LTF (V17L +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2362696	NM_002343.6(LTF):c.61C>T (p.Arg21Cys)	LTF (R21C +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2425284	NC_000003.11:g.(?_45435946)_(49137751_?)dup	ALS2CL, ARIH2 +66 more	Duplication	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 1341974	GRCh37/hg19 3p21.31(chr3:44948482-49115809)x1	NCKIPSD, NDUFAF3 +71 more	Copy number loss	not provided	GPathogenic
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	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

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Items: 70