"PreventionGenetics, part of Exact Sciences"[submitter] AND "SLC25A19" - ClinVar - NCBI

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

Search results

Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3045153	NM_001126121.2(SLC25A19):c.*4C>T	MIF4GD-DT, SLC25A19	Single nucleotide variant (non-coding transcript variant +1 more)	SLC25A19-related disorder	GLikely benign
Select item 596497	NM_001126121.2(SLC25A19):c.842T>G (p.Phe281Cys)	MIF4GD-DT, SLC25A19 (F281C)	Single nucleotide variant (non-coding transcript variant +1 more)	Amish lethal microcephaly +2 more	GConflicting classifications of pathogenicity
Select item 281113	NM_001126121.2(SLC25A19):c.797T>G (p.Met266Arg)	SLC25A19, MIF4GD-DT (M266R)	Single nucleotide variant (non-coding transcript variant +1 more)	SLC25A19-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 130332	NM_001126121.2(SLC25A19):c.750G>A (p.Glu250=)	SLC25A19	Single nucleotide variant (synonymous variant)	SLC25A19-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 390564	NM_001126121.2(SLC25A19):c.567C>T (p.Ala189=)	SLC25A19	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1611961	NM_001126121.2(SLC25A19):c.484G>A (p.Val162Met)	SLC25A19 (V162M)	Single nucleotide variant (missense variant)	SLC25A19-related disorder +1 more	GLikely benign
Select item 2201967	NM_001126121.2(SLC25A19):c.333C>T (p.Ser111=)	SLC25A19	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 506459	NM_001126121.2(SLC25A19):c.288+8G>C	SLC25A19	Single nucleotide variant (intron variant)	Amish lethal microcephaly +3 more	GBenign/Likely benign