ClinVar for Gene (Select 4057) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 2653734	NM_002343.6(LTF):c.882G>A (p.Gln294=)	LTF	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2653733	NM_002343.6(LTF):c.1704T>C (p.Thr568=)	LTF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 1341974	GRCh37/hg19 3p21.31(chr3:44948482-49115809)x1	NCKIPSD, NDUFAF3 +71 more	Copy number loss	not provided	GPathogenic
Select item 785796	NM_002343.6(LTF):c.522C>T (p.Ala174=)	LTF	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 785048	NM_002343.6(LTF):c.185T>A (p.Ile62Asn)	LTF (I49N +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 746010	NM_002343.6(LTF):c.1587C>T (p.Asp529=)	LTF	Single nucleotide variant (synonymous variant)	not provided	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 738852	NM_002343.6(LTF):c.1662G>C (p.Leu554=)	LTF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 731672	NM_002343.6(LTF):c.417C>A (p.Arg139=)	LTF	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 70