"GeneDx"[submitter] AND "MIF4GD-DT"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 325062	NM_001126121.2(SLC25A19):c.*274C>G	MIF4GD-DT, SLC25A19	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 325063	NM_001126121.2(SLC25A19):c.*200G>A	MIF4GD-DT, SLC25A19	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 890140	NM_001126121.2(SLC25A19):c.*96G>C	MIF4GD-DT, SLC25A19	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 130327	NM_001126121.2(SLC25A19):c.*2T>C	MIF4GD-DT, SLC25A19	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GBenign
Select item 130333	NM_001126121.2(SLC25A19):c.819G>A (p.Leu273=)	MIF4GD-DT, SLC25A19	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive demyelinating neuropathy with bilateral striatal necrosis +2 more	GBenign
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)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 509773	NM_001126121.2(SLC25A19):c.775-11C>T	SLC25A19, MIF4GD-DT	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 1239864	NM_001126121.2(SLC25A19):c.775-131AATAA[3]	MIF4GD-DT, SLC25A19	Microsatellite (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1190796	NM_001126121.2(SLC25A19):c.775-122_775-121insAATAG	MIF4GD-DT, SLC25A19	Insertion (non-coding transcript variant +1 more)	not provided	GLikely benign