ClinVar for MedGen (Select 375938) - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1290939	NM_001126121.2(SLC25A19):c.289-26G>A	SLC25A19	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
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 891959	NM_001126121.2(SLC25A19):c.-170G>A	SLC25A19	Single nucleotide variant (5 prime UTR variant)	Amish lethal microcephaly	GUncertain significance
Select item 890720	NM_001126121.2(SLC25A19):c.476G>A (p.Arg159His)	SLC25A19 (R159H)	Single nucleotide variant (missense variant)	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 782161	NM_001126121.2(SLC25A19):c.155G>A (p.Arg52His)	SLC25A19 (R52H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 692004	NM_001126121.2(SLC25A19):c.470C>T (p.Thr157Met)	SLC25A19 (T157M)	Single nucleotide variant (missense variant)	Amish lethal microcephaly	GLikely pathogenic
Select item 597165	NM_001126121.2(SLC25A19):c.93G>A (p.Ala31=)	SLC25A19	Single nucleotide variant (synonymous variant)	Amish lethal microcephaly +1 more	GConflicting classifications of pathogenicity
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 506459	NM_001126121.2(SLC25A19):c.288+8G>C	SLC25A19	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 436748	NM_001126121.2(SLC25A19):c.73T>G (p.Ser25Ala)	SLC25A19 (S25A)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 386288	NM_001126121.2(SLC25A19):c.642T>C (p.Asn214=)	SLC25A19	Single nucleotide variant (synonymous variant)	Amish lethal microcephaly +1 more	GBenign/Likely benign
Select item 325071	NM_021734.4(SLC25A19):c.-201T>A	SLC25A19	Single nucleotide variant	Amish lethal microcephaly	GLikely benign
Select item 325070	NM_001126121.2(SLC25A19):c.-173AG[2]	SLC25A19	Microsatellite (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 325069	NM_001126121.2(SLC25A19):c.-155T>G	SLC25A19	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 325068	NM_001126121.2(SLC25A19):c.20A>G (p.Lys7Arg)	SLC25A19 (K7R)	Single nucleotide variant (missense variant)	Amish lethal microcephaly +2 more	GUncertain significance
Select item 325067	NM_001126121.2(SLC25A19):c.246C>T (p.His82=)	SLC25A19	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 325066	NM_001126121.2(SLC25A19):c.324C>G (p.His108Gln)	SLC25A19 (H108Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 285906	NM_001126121.2(SLC25A19):c.504C>T (p.Ser168=)	SLC25A19	Single nucleotide variant (synonymous variant)	not provided +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)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 198248	NM_001126121.2(SLC25A19):c.483C>T (p.Ala161=)	SLC25A19	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 198247	NM_001126121.2(SLC25A19):c.590G>T (p.Ser197Ile)	SLC25A19 (S197I)	Single nucleotide variant (missense variant)	Progressive demyelinating neuropathy with bilateral striatal necrosis +2 more	GConflicting classifications of pathogenicity
Select item 197331	NM_001126121.2(SLC25A19):c.135T>A (p.Leu45=)	SLC25A19	Single nucleotide variant (synonymous variant)	Amish lethal microcephaly +1 more	GConflicting classifications of pathogenicity
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 130330	NM_001126121.2(SLC25A19):c.339T>C (p.Tyr113=)	SLC25A19	Single nucleotide variant (synonymous variant)	not provided +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
Select item 96021	NM_001126121.2(SLC25A19):c.622C>T (p.Pro208Ser)	SLC25A19 (P208S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 30590	NM_001126121.2(SLC25A19):c.373G>A (p.Gly125Ser)	SLC25A19 (G125S)	Single nucleotide variant (missense variant)	Progressive demyelinating neuropathy with bilateral striatal necrosis	GPathogenic
Select item 4269	NM_001126121.2(SLC25A19):c.530G>C (p.Gly177Ala)	SLC25A19 (G177A)	Single nucleotide variant (missense variant)	Amish lethal microcephaly	GPathogenic

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Items: 40