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

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2162573	NM_001126121.2(SLC25A19):c.959G>A (p.Arg320His)	MIF4GD-DT, SLC25A19 (R320H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2005002	NM_001126121.2(SLC25A19):c.939G>T (p.Met313Ile)	MIF4GD-DT, SLC25A19 (M313I)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 436747	NM_001126121.2(SLC25A19):c.918C>T (p.Phe306=)	MIF4GD-DT, SLC25A19	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GLikely benign
Select item 785582	NM_001126121.2(SLC25A19):c.906G>A (p.Ser302=)	MIF4GD-DT, SLC25A19	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 755591	NM_001126121.2(SLC25A19):c.879C>T (p.Ala293=)	MIF4GD-DT, SLC25A19	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	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)	SLC25A19-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1927596	NM_001126121.2(SLC25A19):c.838G>A (p.Gly280Ser)	MIF4GD-DT, SLC25A19 (G280S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 130333	NM_001126121.2(SLC25A19):c.819G>A (p.Leu273=)	MIF4GD-DT, SLC25A19	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 2184796	NM_001126121.2(SLC25A19):c.805G>A (p.Ala269Thr)	MIF4GD-DT, SLC25A19 (A269T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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 +3 more	GConflicting classifications of pathogenicity
Select item 2098501	NM_001126121.2(SLC25A19):c.792C>T (p.Gly264=)	MIF4GD-DT, SLC25A19	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1029820	NM_001126121.2(SLC25A19):c.779G>A (p.Arg260Gln)	MIF4GD-DT, SLC25A19 (R260Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Amish lethal microcephaly +1 more	GUncertain significance
Select item 2984574	NM_001126121.2(SLC25A19):c.775-6C>T	MIF4GD-DT, SLC25A19	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign