Related gene-specific medical variations for Gene (Select 60386) - ClinVar

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Links from Gene

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3163613	NM_001126121.2(SLC25A19):c.890G>T (p.Gly297Val)	MIF4GD-DT, SLC25A19 (G297V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2984574	NM_001126121.2(SLC25A19):c.775-6C>T	MIF4GD-DT, SLC25A19	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2435992	NM_001126121.2(SLC25A19):c.433C>A (p.Arg145Ser)	SLC25A19 (R145S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435991	NM_001126121.2(SLC25A19):c.115A>T (p.Ile39Phe)	SLC25A19 (I39F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2394315	NM_001126121.2(SLC25A19):c.905C>T (p.Ser302Leu)	MIF4GD-DT, SLC25A19 (S302L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2231350	NM_001126121.2(SLC25A19):c.905C>G (p.Ser302Trp)	MIF4GD-DT, SLC25A19 (S302W)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
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 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 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 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 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 1695342	NM_001126121.2(SLC25A19):c.910G>A (p.Glu304Lys)	MIF4GD-DT, SLC25A19 (E304K)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive demyelinating neuropathy with bilateral striatal necrosis	GPathogenic
Select item 1695339	NM_001126121.2(SLC25A19):c.869T>A (p.Leu290Gln)	MIF4GD-DT, SLC25A19 (L290Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive demyelinating neuropathy with bilateral striatal necrosis	GPathogenic
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
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 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 890139	NM_001126121.2(SLC25A19):c.*164G>A	MIF4GD-DT, SLC25A19	Single nucleotide variant (non-coding transcript variant +1 more)	Amish lethal microcephaly	GBenign
Select item 889457	NM_001126121.2(SLC25A19):c.*292A>G	MIF4GD-DT, SLC25A19	Single nucleotide variant (non-coding transcript variant +1 more)	Amish lethal microcephaly	GUncertain significance
Select item 889456	NM_001126121.2(SLC25A19):c.*301C>T	MIF4GD-DT, SLC25A19	Single nucleotide variant (non-coding transcript variant +1 more)	Amish lethal microcephaly	GLikely benign
Select item 889455	NM_001126121.2(SLC25A19):c.*384C>T	MIF4GD-DT, SLC25A19	Single nucleotide variant (non-coding transcript variant +1 more)	Amish lethal microcephaly	GUncertain significance
Select item 889454	NM_001126121.2(SLC25A19):c.*408C>T	MIF4GD-DT, SLC25A19	Single nucleotide variant (non-coding transcript variant +1 more)	Amish lethal microcephaly	GUncertain significance
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 692005	NM_001126121.2(SLC25A19):c.775-1G>C	MIF4GD-DT, SLC25A19	Single nucleotide variant (non-coding transcript variant +1 more)	Amish lethal microcephaly	GPathogenic
Select item 618875	NM_001126121.2(SLC25A19):c.125G>A (p.Arg42His)	SLC25A19 (R42H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 +1 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 436747	NM_001126121.2(SLC25A19):c.918C>T (p.Phe306=)	MIF4GD-DT, SLC25A19	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 325065	NM_001126121.2(SLC25A19):c.930C>A (p.Phe310Leu)	MIF4GD-DT, SLC25A19 (F310L)	Single nucleotide variant (non-coding transcript variant +1 more)	Amish lethal microcephaly	GUncertain significance
Select item 325064	NM_001126121.2(SLC25A19):c.*113G>C	MIF4GD-DT, SLC25A19	Single nucleotide variant (non-coding transcript variant +1 more)	Amish lethal microcephaly	GUncertain significance
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 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 325061	NM_001126121.2(SLC25A19):c.*437T>G	MIF4GD-DT, SLC25A19	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 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 212197	NM_001126121.2(SLC25A19):c.789G>C (p.Lys263Asn)	MIF4GD-DT, SLC25A19 (K263N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
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 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

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Links from Gene

Items: 39