Related gene-specific medical variations for Gene (Select 79068) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242571	NM_001080432.3(FTO):c.-29G>T	FTO	Single nucleotide variant (5 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
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 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 2441588	NM_001080432.3(FTO):c.1162C>T (p.Arg388Ter)	FTO (R217* +5 more)	Single nucleotide variant (nonsense)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 1526510	GRCh37/hg19 16q12.2(chr16:53798934-54070212)	FTO	Copy number loss	not specified	GUncertain significance
Select item 687441	GRCh37/hg19 16q12.2(chr16:53906098-54003147)x1	FTO	Copy number loss	not provided	GUncertain significance
Select item 686175	GRCh37/hg19 16q12.2(chr16:53789151-54049153)x1	FTO	Copy number loss	not provided	GPathogenic
Select item 564330	GRCh37/hg19 16q12.2(chr16:53799506-53906307)x1	FTO	Copy number loss	not provided	GLikely benign
Select item 394510	GRCh37/hg19 16q12.2(chr16:53977023-54069147)x1	FTO	Copy number loss	See cases	GUncertain significance
Select item 235247	NM_001080432.3(FTO):c.1365G>T (p.Arg455Ser)	FTO (R455S +8 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance