SLC25A19[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	not provided +1 more	GUncertain significance
Select item 130332	NM_001126121.2(SLC25A19):c.750G>A (p.Glu250=)	SLC25A19	Single nucleotide variant (synonymous variant)	not provided	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)	not provided +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 specified +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)	Progressive demyelinating neuropathy with bilateral striatal necrosis +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)	not provided +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)	Progressive demyelinating neuropathy with bilateral striatal necrosis +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)	not provided	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)	not provided	GLikely benign
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 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
Select item 1247845	NM_001126121.2(SLC25A19):c.460-199A>G	SLC25A19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211203	NM_001126121.2(SLC25A19):c.459+22C>T	SLC25A19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2026674	NM_001126121.2(SLC25A19):c.459+4A>G	SLC25A19	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 438731	NM_001126121.2(SLC25A19):c.454C>A (p.Pro152Thr)	SLC25A19 (P152T)	Single nucleotide variant (missense variant)	Progressive demyelinating neuropathy with bilateral striatal necrosis	GPathogenic
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 1337415	NM_001126121.2(SLC25A19):c.428G>A (p.Arg143His)	SLC25A19 (R143H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 130331	NM_001126121.2(SLC25A19):c.414C>T (p.Pro138=)	SLC25A19	Single nucleotide variant (synonymous variant)	not specified	GBenign/Likely benign
Select item 2547693	NM_001126121.2(SLC25A19):c.406G>A (p.Val136Met)	SLC25A19 (V136M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2011273	NM_001126121.2(SLC25A19):c.379C>T (p.Leu127=)	SLC25A19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1163709	NM_001126121.2(SLC25A19):c.362A>G (p.His121Arg)	SLC25A19 (H121R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1163710	NM_001126121.2(SLC25A19):c.346C>T (p.Arg116Trp)	SLC25A19 (R116W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2078681	NM_001126121.2(SLC25A19):c.343G>A (p.Ala115Thr)	SLC25A19 (A115T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1897650	NM_001126121.2(SLC25A19):c.342C>T (p.Asp114=)	SLC25A19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 451970	NM_001126121.2(SLC25A19):c.341A>G (p.Asp114Gly)	SLC25A19 (D114G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2201967	NM_001126121.2(SLC25A19):c.333C>T (p.Ser111=)	SLC25A19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 130329	NM_001126121.2(SLC25A19):c.332G>A (p.Ser111Asn)	SLC25A19 (S111N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2840994	NM_001126121.2(SLC25A19):c.317T>C (p.Leu106Pro)	SLC25A19 (L106P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2911633	NM_001126121.2(SLC25A19):c.311C>T (p.Thr104Met)	SLC25A19 (T104M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1290939	NM_001126121.2(SLC25A19):c.289-26G>A	SLC25A19	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1286760	NM_001126121.2(SLC25A19):c.289-267T>C	SLC25A19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230034	NM_001126121.2(SLC25A19):c.289-276_289-275del	SLC25A19	Deletion (intron variant)	not provided	GBenign
Select item 1213500	NM_001126121.2(SLC25A19):c.289-304G>A	SLC25A19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295732	NM_001126121.2(SLC25A19):c.288+179G>A	SLC25A19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292083	NM_001126121.2(SLC25A19):c.288+86G>A	SLC25A19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1952770	NM_001126121.2(SLC25A19):c.288+19G>C	SLC25A19	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1903699	NM_001126121.2(SLC25A19):c.288+5del	SLC25A19	Deletion (intron variant)	not provided	GUncertain significance
Select item 1012430	NM_001126121.2(SLC25A19):c.287A>G (p.Gln96Arg)	SLC25A19 (Q96R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2209933	NM_001126121.2(SLC25A19):c.247G>A (p.Val83Ile)	SLC25A19 (V83I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 488598	NM_001126121.2(SLC25A19):c.240A>C (p.Lys80Asn)	SLC25A19 (K80N)	Single nucleotide variant (missense variant)	Progressive demyelinating neuropathy with bilateral striatal necrosis	GLikely pathogenic
Select item 2279940	NM_001126121.2(SLC25A19):c.239A>C (p.Lys80Thr)	SLC25A19 (K80T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2049967	NM_001126121.2(SLC25A19):c.235T>C (p.Trp79Arg)	SLC25A19 (W79R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2145261	NM_001126121.2(SLC25A19):c.219G>A (p.Glu73=)	SLC25A19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1610492	NM_001126121.2(SLC25A19):c.207T>C (p.Ile69=)	SLC25A19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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