"Ambry Genetics"[submitter] AND "SLC25A48"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2403520	NM_001349336.2(SLC25A48):c.140G>A (p.Arg47His)	SLC25A48 (R47H)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2595723	NM_001349336.2(SLC25A48):c.142G>A (p.Val48Met)	SLC25A48 (V48M)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2248291	NM_001349336.2(SLC25A48):c.367C>A (p.Pro123Thr)	SLC25A48 (P123T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2325257	NM_001349336.2(SLC25A48):c.410C>G (p.Pro137Arg)	SLC25A48 (P137R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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