ClinVar for MedGen (Select 394125) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064900	NM_013386.5(SLC25A24):c.202G>C (p.Asp68His)	SLC25A24 (D49H +1 more)	Single nucleotide variant (missense variant)	Fontaine progeroid syndrome	GLikely benign
Select item 2585298	NM_013386.5(SLC25A24):c.1346C>T (p.Pro449Leu)	SLC25A24 (P430L +1 more)	Single nucleotide variant (missense variant)	Fontaine progeroid syndrome	GUncertain significance
Select item 2435996	NM_013386.5(SLC25A24):c.1A>C (p.Met1Leu)	LOC112577470, SLC25A24 (M1L)	Single nucleotide variant (missense variant +1 more)	Fontaine progeroid syndrome	GUncertain significance
Select item 1683655	NM_013386.5(SLC25A24):c.424G>A (p.Val142Met)	SLC25A24 (V123M +1 more)	Single nucleotide variant (missense variant)	Fontaine progeroid syndrome	GUncertain significance
Select item 1246080	NM_013386.5(SLC25A24):c.398+45T>C	SLC25A24	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1181064	NM_013386.5(SLC25A24):c.276A>G (p.Lys92=)	SLC25A24	Single nucleotide variant (synonymous variant)	Fontaine progeroid syndrome +1 more	GBenign
Select item 1032578	NM_013386.5(SLC25A24):c.812_822+1del	SLC25A24	Deletion (splice donor variant)	Fontaine progeroid syndrome	GUncertain significance
Select item 370032	NM_013386.5(SLC25A24):c.650G>A (p.Arg217His)	SLC25A24 (R198H +1 more)	Single nucleotide variant (missense variant)	Fontaine progeroid syndrome +1 more	GPathogenic
Select item 369980	NM_013386.5(SLC25A24):c.649C>T (p.Arg217Cys)	SLC25A24 (R198C +1 more)	Single nucleotide variant (missense variant)	Fontaine progeroid syndrome	GPathogenic