SLC25A19[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 325061	NM_001126121.2(SLC25A19):c.*437T>G	MIF4GD-DT, SLC25A19	Single nucleotide variant (3 prime UTR variant +1 more)	Amish lethal microcephaly	GBenign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 (non-coding transcript variant +1 more)	Amish lethal microcephaly +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)	SLC25A19-related disorder +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 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 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 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 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
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
Select item 676198	NM_001126121.2(SLC25A19):c.774+131C>G	SLC25A19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255218	NM_001126121.2(SLC25A19):c.774+129T>C	SLC25A19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2914510	NM_001126121.2(SLC25A19):c.774+8G>A	SLC25A19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2161481	NM_001126121.2(SLC25A19):c.774+7C>T	SLC25A19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 501915	NM_001126121.2(SLC25A19):c.761C>T (p.Ala254Val)	SLC25A19 (A254V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 2585316	NM_001126121.2(SLC25A19):c.748G>A (p.Glu250Lys)	SLC25A19 (E250K)	Single nucleotide variant (missense variant)	Progressive demyelinating neuropathy with bilateral striatal necrosis	GUncertain significance
Select item 1695340	NM_001126121.2(SLC25A19):c.745T>A (p.Phe249Ile)	SLC25A19 (F249I)	Single nucleotide variant (missense variant)	Progressive demyelinating neuropathy with bilateral striatal necrosis	GPathogenic
Select item 508982	NM_001126121.2(SLC25A19):c.744G>C (p.Gly248=)	SLC25A19	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 450431	NM_001126121.2(SLC25A19):c.728G>A (p.Arg243Gln)	SLC25A19 (R243Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1462556	NM_001126121.2(SLC25A19):c.727C>T (p.Arg243Trp)	SLC25A19 (R243W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2733108	NM_001126121.2(SLC25A19):c.708G>A (p.Pro236=)	SLC25A19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1440923	NM_001126121.2(SLC25A19):c.685A>C (p.Ile229Leu)	SLC25A19 (I229L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1394654	NM_001126121.2(SLC25A19):c.644-3C>A	SLC25A19	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 508981	NM_001126121.2(SLC25A19):c.644-17C>T	SLC25A19	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2772423	NM_001126121.2(SLC25A19):c.644-18C>A	SLC25A19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1291032	NM_001126121.2(SLC25A19):c.643+52A>G	SLC25A19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 512486	NM_001126121.2(SLC25A19):c.643+19G>A	SLC25A19	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1165224	NM_001126121.2(SLC25A19):c.643+18C>T	SLC25A19	Single nucleotide variant (intron variant)	not provided	GBenign
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 1480823	NM_001126121.2(SLC25A19):c.635A>G (p.Lys212Arg)	SLC25A19 (K212R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1910845	NM_001126121.2(SLC25A19):c.628G>A (p.Glu210Lys)	SLC25A19 (E210K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3163612	NM_001126121.2(SLC25A19):c.616G>C (p.Ala206Pro)	SLC25A19 (A206P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 618364	NM_001126121.2(SLC25A19):c.610A>C (p.Lys204Gln)	SLC25A19 (K204Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 212196	NM_001126121.2(SLC25A19):c.591C>G (p.Ser197Arg)	SLC25A19 (S197R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 198247	NM_001126121.2(SLC25A19):c.590G>T (p.Ser197Ile)	SLC25A19 (S197I)	Single nucleotide variant (missense variant)	Amish lethal microcephaly +2 more	GConflicting classifications of pathogenicity
Select item 1695338	NM_001126121.2(SLC25A19):c.576G>C (p.Gln192His)	SLC25A19 (Q192H)	Single nucleotide variant (missense variant)	Progressive demyelinating neuropathy with bilateral striatal necrosis	GPathogenic
Select item 2170632	NM_001126121.2(SLC25A19):c.571C>T (p.Leu191=)	SLC25A19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 765062	NM_001126121.2(SLC25A19):c.570G>A (p.Gly190=)	SLC25A19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 390564	NM_001126121.2(SLC25A19):c.567C>T (p.Ala189=)	SLC25A19	Single nucleotide variant (synonymous variant)	SLC25A19-related disorder +1 more	GLikely benign
Select item 198249	NM_001126121.2(SLC25A19):c.565G>A (p.Ala189Thr)	SLC25A19 (A189T)	Single nucleotide variant (missense variant)	Progressive demyelinating neuropathy with bilateral striatal necrosis +2 more	GConflicting classifications of pathogenicity
Select item 501456	NM_001126121.2(SLC25A19):c.564C>T (p.Tyr188=)	SLC25A19	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 515766	NM_001126121.2(SLC25A19):c.561C>G (p.Pro187=)	SLC25A19	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2184578	NM_001126121.2(SLC25A19):c.550G>A (p.Ala184Thr)	SLC25A19 (A184T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1966194	NM_001126121.2(SLC25A19):c.550G>T (p.Ala184Ser)	SLC25A19 (A184S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 438733	NM_001126121.2(SLC25A19):c.550G>C (p.Ala184Pro)	SLC25A19 (A184P)	Single nucleotide variant (missense variant)	Progressive demyelinating neuropathy with bilateral striatal necrosis	GPathogenic
Select item 2742146	NM_001126121.2(SLC25A19):c.549C>T (p.Ile183=)	SLC25A19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1394668	NM_001126121.2(SLC25A19):c.541A>G (p.Thr181Ala)	SLC25A19 (T181A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 4269	NM_001126121.2(SLC25A19):c.530G>C (p.Gly177Ala)	SLC25A19 (G177A)	Single nucleotide variant (missense variant)	Amish lethal microcephaly	GPathogenic
Select item 1934251	NM_001126121.2(SLC25A19):c.511C>A (p.Pro171Thr)	SLC25A19 (P171T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 191086	NM_001126121.2(SLC25A19):c.505G>A (p.Glu169Lys)	SLC25A19 (E169K)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 1372996	NM_001126121.2(SLC25A19):c.497A>T (p.Tyr166Phe)	SLC25A19 (Y166F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2793870	NM_001126121.2(SLC25A19):c.489G>A (p.Gly163=)	SLC25A19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2217569	NM_001126121.2(SLC25A19):c.487G>A (p.Gly163Arg)	SLC25A19 (G163R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 198248	NM_001126121.2(SLC25A19):c.483C>T (p.Ala161=)	SLC25A19	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 438732	NM_001126121.2(SLC25A19):c.481G>A (p.Ala161Thr)	SLC25A19 (A161T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2740464	NM_001126121.2(SLC25A19):c.480C>T (p.His160=)	SLC25A19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1994780	NM_001126121.2(SLC25A19):c.476_477delinsTT (p.Arg159Leu)	SLC25A19 (R159L)	Indel (missense variant)	not provided	GUncertain significance
Select item 1982510	NM_001126121.2(SLC25A19):c.477C>T (p.Arg159=)	SLC25A19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 692004	NM_001126121.2(SLC25A19):c.470C>T (p.Thr157Met)	SLC25A19 (T157M)	Single nucleotide variant (missense variant)	Amish lethal microcephaly	GLikely pathogenic
Select item 2467465	NM_001126121.2(SLC25A19):c.467A>G (p.Asn156Ser)	SLC25A19 (N156S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 382233	NM_001126121.2(SLC25A19):c.460-14G>A	SLC25A19	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2759264	NM_001126121.2(SLC25A19):c.460-15C>G	SLC25A19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1926383	NM_001126121.2(SLC25A19):c.460-17T>C	SLC25A19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2028341	NM_001126121.2(SLC25A19):c.460-20A>T	SLC25A19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216139	NM_001126121.2(SLC25A19):c.460-31G>C	SLC25A19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235477	NM_001126121.2(SLC25A19):c.460-88dup	SLC25A19	Duplication (intron variant)	not provided	GBenign
Select item 1292177	NM_001126121.2(SLC25A19):c.460-142C>T	SLC25A19	Single nucleotide variant (intron variant)	not provided	GBenign

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