FTO[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 59487	GRCh38/hg38 16q12.1-12.2(chr16:47250644-54121476)x1	ABCC11, ABCC12 +210 more	Copy number loss	See cases	GPathogenic
Select item 221522	GRCh38/hg38 16q12.1-12.2(chr16:48543083-53879916)x1	ADCY7, AKTIP +171 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
Select item 59490	GRCh38/hg38 16q12.1-12.2(chr16:50784329-55566715)x1	AKTIP, CAPNS2 +104 more	Copy number loss	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059149, LOC130059150 +1738 more	Copy number gain	See cases	GPathogenic
Select item 886777	NM_001080432.2(FTO):c.-210A>T	FTO	Single nucleotide variant (5 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 319674	NM_001080432.2(FTO):c.-186C>G	FTO	Single nucleotide variant (5 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 886778	NM_001080432.2(FTO):c.-168C>G	FTO	Single nucleotide variant (5 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 886779	NM_001080432.2(FTO):c.-140T>C	FTO	Single nucleotide variant (5 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GLikely benign
Select item 319675	NM_001080432.2(FTO):c.-137G>C	FTO	Single nucleotide variant (5 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 886780	NM_001080432.2(FTO):c.-122C>G	FTO	Single nucleotide variant (5 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 886781	NM_001080432.2(FTO):c.-43G>A	FTO	Single nucleotide variant (5 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 886782	NM_001080432.3(FTO):c.-6G>A	FTO	Single nucleotide variant (5 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 319676	NM_001080432.3(FTO):c.-4del	FTO	Deletion (5 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 2441589	NM_001080432.3(FTO):c.1A>G (p.Met1Val)	FTO (M1V)	Single nucleotide variant (missense variant +3 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 2260024	NM_001080432.3(FTO):c.7C>T (p.Arg3Cys)	FTO (R3C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2806123	NM_001080432.3(FTO):c.8G>C (p.Arg3Pro)	FTO (R3P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1373733	NM_001080432.3(FTO):c.10A>G (p.Thr4Ala)	FTO (T4A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 754466	NM_001080432.3(FTO):c.12C>G (p.Thr4=)	FTO	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 319677	NM_001080432.3(FTO):c.18T>C (p.Thr6=)	FTO, RPGRIP1L	Single nucleotide variant (synonymous variant +2 more)	Nephronophthisis +4 more	GBenign/Likely benign
Select item 319678	NM_001080432.3(FTO):c.45+8G>T	FTO	Single nucleotide variant (intron variant)	Lethal polymalformative syndrome, Boissel type +1 more	GConflicting classifications of pathogenicity
Select item 1613871	NM_001080432.3(FTO):c.45+10G>A	FTO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 217824	NM_001080432.3(FTO):c.46-43098T>C	FTO	Single nucleotide variant (intron variant)	OBESITY (BMIQ14), SUSCEPTIBILITY TO	Grisk factor
Select item 1601158	NM_001080432.3(FTO):c.46-34929C>T	FTO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1559767	NM_001080432.3(FTO):c.46-30686_46-30685delinsTG	FTO	Indel (intron variant)	not provided	GLikely benign
Select item 225824	NM_001080432.3(FTO):c.46-30685T>G	FTO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1982821	NM_001080432.3(FTO):c.88T>C (p.Tyr30His)	FTO (Y30H)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 319679	NM_001080432.3(FTO):c.99C>T (p.Pro33=)	FTO	Single nucleotide variant (synonymous variant +3 more)	not provided +1 more	GBenign/Likely benign
Select item 2241757	NM_001080432.3(FTO):c.103G>T (p.Asp35Tyr)	FTO (D35Y)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2223304	NM_001080432.3(FTO):c.116A>G (p.Tyr39Cys)	FTO (Y39C)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 731640	NM_001080432.3(FTO):c.123+5G>A	FTO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1615802	NM_001080432.3(FTO):c.123+8A>G	FTO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1670408	NM_001080432.3(FTO):c.123+18T>G	FTO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1696636	Single allele	IRX5, IRX6 +189 more	Deletion	not provided	GPathogenic
Select item 225825	NM_001080432.3(FTO):c.124-4485A>T	FTO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3065660	NM_001080432.3(FTO):c.124-1G>A	FTO	Single nucleotide variant (splice acceptor variant)	Body mass index quantitative trait locus 14	GLikely pathogenic
Select item 2885068	NM_001080432.3(FTO):c.130C>T (p.Leu44=)	FTO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 888055	NM_001080432.3(FTO):c.142A>C (p.Lys48Gln)	FTO (K48Q +1 more)	Single nucleotide variant (missense variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 2380435	NM_001080432.3(FTO):c.151C>A (p.Leu51Ile)	FTO (L51I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 501644	NM_001080432.3(FTO):c.154C>T (p.Arg52Ter)	FTO (R52* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 319680	NM_001080432.3(FTO):c.174T>C (p.Ser58=)	FTO	Single nucleotide variant (synonymous variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 1355300	NM_001080432.3(FTO):c.185A>G (p.His62Arg)	FTO (H36R +1 more)	Single nucleotide variant (missense variant +1 more)	Lethal polymalformative syndrome, Boissel type +1 more	GUncertain significance
Select item 2096095	NM_001080432.3(FTO):c.189A>T (p.Lys63Asn)	FTO (K37N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1690698	NM_001080432.3(FTO):c.212C>T (p.Thr71Ile)	FTO (T45I +1 more)	Single nucleotide variant (missense variant +1 more)	See cases	GUncertain significance
Select item 1184333	NM_001080432.3(FTO):c.238C>T (p.Arg80Trp)	FTO (R54W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2441587	NM_001080432.3(FTO):c.239G>A (p.Arg80Gln)	FTO (R54Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1412056	NM_001080432.3(FTO):c.257A>G (p.Gln86Arg)	FTO (Q86R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 522710	NM_001080432.3(FTO):c.263A>G (p.Lys88Arg)	FTO (K88R +1 more)	Single nucleotide variant (missense variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 888056	NM_001080432.3(FTO):c.278C>G (p.Pro93Arg)	FTO (P67R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1509086	NM_001080432.3(FTO):c.287G>A (p.Arg96His)	FTO (R70H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1369795	NM_001080432.3(FTO):c.312C>T (p.Cys104=)	FTO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1513826	NM_001080432.3(FTO):c.345G>A (p.Thr115=)	FTO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2418250	NM_001080432.3(FTO):c.372T>C (p.Asn124=)	FTO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1650262	NM_001080432.3(FTO):c.384C>T (p.Thr128=)	FTO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1587679	NM_001080432.3(FTO):c.399C>T (p.Ala133=)	FTO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 319681	NM_001080432.3(FTO):c.400G>A (p.Ala134Thr)	FTO (A134T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 888057	NM_001080432.3(FTO):c.428A>G (p.Asn143Ser)	FTO (N143S +1 more)	Single nucleotide variant (missense variant +1 more)	Lethal polymalformative syndrome, Boissel type +1 more	GUncertain significance
Select item 884923	NM_001080432.3(FTO):c.430G>A (p.Asp144Asn)	FTO (D144N +1 more)	Single nucleotide variant (missense variant +1 more)	Lethal polymalformative syndrome, Boissel type +1 more	GLikely benign
Select item 2723587	NM_001080432.3(FTO):c.435C>T (p.Tyr145=)	FTO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1385273	NM_001080432.3(FTO):c.436C>A (p.Leu146Met)	FTO (L120M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1981102	NM_001080432.3(FTO):c.438G>T (p.Leu146=)	FTO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1474849	NM_001080432.3(FTO):c.442A>G (p.Ile148Val)	FTO (I148V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2815480	NM_001080432.3(FTO):c.444A>C (p.Ile148=)	FTO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 319682	NM_001080432.3(FTO):c.487G>A (p.Ala163Thr)	FTO (A163T +1 more)	Single nucleotide variant (missense variant +1 more)	Lethal polymalformative syndrome, Boissel type +1 more	GConflicting classifications of pathogenicity
Select item 3097388	NM_001080432.3(FTO):c.490A>C (p.Asn164His)	FTO (N164H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 445384	NM_001080432.3(FTO):c.545G>C (p.Gly182Ala)	FTO (G182A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2420818	NM_001080432.3(FTO):c.558C>T (p.Asn186=)	FTO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1458928	NM_001080432.3(FTO):c.561A>G (p.Gly187=)	FTO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 733980	NM_001080432.3(FTO):c.600C>T (p.Asn200=)	FTO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 884924	NM_001080432.3(FTO):c.601G>A (p.Val201Ile)	FTO (V201I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1341534	NM_001080432.3(FTO):c.608T>C (p.Leu203Ser)	FTO (L177S +2 more)	Single nucleotide variant (missense variant)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 1672907	NM_001080432.3(FTO):c.639A>G (p.Pro213=)	FTO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1959350	NM_001080432.3(FTO):c.651G>A (p.Glu217=)	FTO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3097389	NM_001080432.3(FTO):c.665G>T (p.Gly222Val)	FTO (G196V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1407011	NM_001080432.3(FTO):c.667A>G (p.Met223Val)	FTO (M223V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 741998	NM_001080432.3(FTO):c.696T>C (p.His232=)	FTO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 884925	NM_001080432.3(FTO):c.721G>A (p.Ala241Thr)	FTO (A70T +2 more)	Single nucleotide variant (missense variant)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 2229222	NM_001080432.3(FTO):c.722C>T (p.Ala241Val)	FTO (A215V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1554562	NM_001080432.3(FTO):c.723G>A (p.Ala241=)	FTO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2007611	NM_001080432.3(FTO):c.732G>T (p.Val244=)	FTO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 319683	NM_001080432.3(FTO):c.751+3A>G	FTO (T252A)	Single nucleotide variant (missense variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 1929183	NM_001080432.3(FTO):c.751+16G>C	FTO (W256S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1601432	NM_001080432.3(FTO):c.751+736C>T	FTO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1597377	NM_001080432.3(FTO):c.751+1189G>A	FTO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1030089	NM_001080432.3(FTO):c.754C>T (p.Pro252Ser)	FTO (P226S +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 714629	NM_001080432.3(FTO):c.767G>A (p.Ser256Asn)	FTO (S230N +3 more)	Single nucleotide variant (missense variant +2 more)	FTO-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 319684	NM_001080432.3(FTO):c.783T>A (p.His261Gln)	FTO (H261Q +3 more)	Single nucleotide variant (missense variant +2 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 1408761	NM_001080432.3(FTO):c.785T>C (p.Leu262Pro)	FTO (L262P +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2518585	NM_001080432.3(FTO):c.787G>A (p.Glu263Lys)	FTO (E237K +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2087769	NM_001080432.3(FTO):c.791G>A (p.Gly264Asp)	FTO (G238D +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1381748	NM_001080432.3(FTO):c.793A>G (p.Arg265Gly)	FTO (R239G +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3068927	NM_001080432.3(FTO):c.809G>A (p.Trp270Ter)	FTO (W244* +3 more)	Single nucleotide variant (nonsense +2 more)	not specified	GUncertain significance
Select item 885846	NM_001080432.3(FTO):c.857C>T (p.Ala286Val)	FTO (A260V +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2775812	NM_001080432.3(FTO):c.864C>G (p.Pro288=)	FTO	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2097500	NM_001080432.3(FTO):c.889A>G (p.Met297Val)	FTO (M126V +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 148863	GRCh38/hg38 16q12.2(chr16:53849442-54109066)x1	FTO, FTO-IT1 +6 more	Copy number loss	See cases	GUncertain significance
Select item 1378165	NM_001080432.3(FTO):c.899A>G (p.Asp300Gly)	FTO (D129G +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2553676	NM_001080432.3(FTO):c.902T>C (p.Leu301Pro)	FTO (L301P +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 734639	NM_001080432.3(FTO):c.912C>T (p.Thr304=)	FTO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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