SLC25A4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	See cases	GPathogenic
Select item 152441	GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3	AADAT, ACSL1 +553 more	Copy number gain	See cases	GPathogenic
Select item 57053	GRCh38/hg38 4q32.2-35.2(chr4:162013220-189975519)x3	MTNR1A, NAF1 +535 more	Copy number gain	See cases	GPathogenic
Select item 59505	GRCh38/hg38 4q32.3-35.2(chr4:164039530-189982708)x1	LOC129993482, LOC129993483 +509 more	Copy number loss	See cases	GPathogenic
Select item 151716	GRCh38/hg38 4q32.3-35.2(chr4:165281036-190018185)x1	LOC129993424, LOC129993425 +485 more	Copy number loss	See cases	GPathogenic
Select item 148458	GRCh38/hg38 4q32.3-35.2(chr4:166317587-190095391)x1	MIR4455, MIR548T +466 more	Copy number loss	See cases	GPathogenic
Select item 153653	GRCh38/hg38 4q32.3-35.2(chr4:167373716-190036318)x1	LOC129993469, LOC129993470 +455 more	Copy number loss	See cases	GPathogenic
Select item 155264	GRCh38/hg38 4q32.3-35.2(chr4:168119317-190095391)x3	LOC129993480, LOC129993481 +451 more	Copy number gain	See cases	GPathogenic
Select item 154300	GRCh38/hg38 4q32.3-35.2(chr4:168970400-186936738)x1	AADAT, ACSL1 +386 more	Copy number loss	See cases	GPathogenic
Select item 151692	GRCh38/hg38 4q33-35.2(chr4:169873508-190018185)x1	AADAT, ACSL1 +399 more	Copy number loss	See cases	GPathogenic
Select item 149543	GRCh38/hg38 4q33-35.2(chr4:169901205-190095391)x3	SAP30-DT, SCRG1 +401 more	Copy number gain	See cases	GUncertain significance
Select item 155165	GRCh38/hg38 4q33-35.2(chr4:170899124-190036318)x1	LOC126807230, LOC126807231 +383 more	Copy number loss	See cases	GPathogenic
Select item 59507	GRCh38/hg38 4q34.1-35.2(chr4:171507704-189869726)x1	UFSP2, VEGFC +375 more	Copy number loss	See cases	GPathogenic
Select item 58061	GRCh38/hg38 4q34.1-35.2(chr4:172200228-189975519)x3	MIR4455, MIR548T +369 more	Copy number gain	See cases	GPathogenic
Select item 59510	GRCh38/hg38 4q34.1-35.2(chr4:172356988-189975519)x1	ACSL1, ADAM29 +369 more	Copy number loss	See cases	GPathogenic
Select item 155012	GRCh38/hg38 4q34.1-35.2(chr4:172501374-190095332)x1	ACSL1, ADAM29 +372 more	Copy number loss	See cases	GPathogenic
Select item 57133	GRCh38/hg38 4q34.1-35.2(chr4:173599911-188624331)x1	ACSL1, ADAM29 +322 more	Copy number loss	See cases	GPathogenic
Select item 59511	GRCh38/hg38 4q34.1-35.2(chr4:173754675-189343295)x1	ACSL1, ADAM29 +330 more	Copy number loss	See cases	GPathogenic
Select item 146879	GRCh38/hg38 4q34.1-35.2(chr4:173854560-189548183)x1	ACSL1, ADAM29 +330 more	Copy number loss	See cases	GPathogenic
Select item 152991	GRCh38/hg38 4q34.1-35.2(chr4:173989029-189975519)x1	FLJ38576, FRG1 +339 more	Copy number loss	See cases	GPathogenic
Select item 57505	GRCh38/hg38 4q34.2-35.2(chr4:175483683-189975519)x1	ACSL1, AGA +324 more	Copy number loss	See cases	GPathogenic
Select item 155559	GRCh38/hg38 4q34.3-35.2(chr4:176756632-189621964)x1	ACSL1, AGA +293 more	Copy number loss	See cases	GLikely pathogenic
Select item 59532	GRCh38/hg38 4q34.3-35.2(chr4:177442769-190042639)x1	LOC132089100, LOC132089101 +293 more	Copy number loss	See cases	GPathogenic
Select item 148007	GRCh38/hg38 4q34.3-35.2(chr4:177985956-189975519)x1	LOC126807226, LOC126807227 +285 more	Copy number loss	See cases	GPathogenic
Select item 148268	GRCh38/hg38 4q34.3-35.2(chr4:178014570-190095391)x1	ACSL1, ANKRD37 +287 more	Copy number loss	See cases	GPathogenic
Select item 148187	GRCh38/hg38 4q34.3-35.2(chr4:178549472-190095391)x1	ACSL1, ANKRD37 +286 more	Copy number loss	See cases	GPathogenic
Select item 151757	GRCh38/hg38 4q34.3-35.2(chr4:179295511-190036318)x3	LOC132089106, LOC132089107 +282 more	Copy number gain	See cases	GPathogenic
Select item 58062	GRCh38/hg38 4q34.3-35.2(chr4:179946068-189548183)x3	ACSL1, ANKRD37 +267 more	Copy number gain	See cases	GPathogenic
Select item 146393	GRCh38/hg38 4q34.3-35.2(chr4:180451652-190095391)x3	ACSL1, ANKRD37 +275 more	Copy number gain	See cases	GLikely pathogenic
Select item 148270	GRCh38/hg38 4q34.3-35.2(chr4:180574962-190095391)x1	ACSL1, ANKRD37 +275 more	Copy number loss	See cases	GPathogenic
Select item 154943	GRCh38/hg38 4q34.3-35.2(chr4:180717850-190095391)x3	WWC2, WWC2-AS1 +274 more	Copy number gain	See cases	GPathogenic
Select item 161066	GRCh38/hg38 4q34.3-35.1(chr4:181579626-186100199)x1	ACSL1, ANKRD37 +193 more	Copy number loss	See cases	GPathogenic
Select item 33229	GRCh38/hg38 4q34.3-35.1(chr4:181579626-186100199)x1	ACSL1, ANKRD37 +193 more	Copy number loss	See cases	GPathogenic
Select item 154160	GRCh38/hg38 4q34.3-35.1(chr4:181762338-185175891)x1	CFAP97, ACSL1 +148 more	Copy number loss	See cases	GUncertain significance
Select item 144872	GRCh38/hg38 4q35.1-35.2(chr4:182437091-190018185)x1	ACSL1, ANKRD37 +256 more	Copy number loss	See cases	GPathogenic
Select item 153318	GRCh38/hg38 4q35.1-35.2(chr4:182732498-187998523)x4	ACSL1, ANKRD37 +223 more	Copy number gain	See cases	GLikely pathogenic
Select item 58063	GRCh38/hg38 4q35.1(chr4:182990639-186013514)x3	ACSL1, ANKRD37 +165 more	Copy number gain	See cases	GPathogenic
Select item 149694	GRCh38/hg38 4q35.1-35.2(chr4:183072743-190095391)x1	ACSL1, ANKRD37 +241 more	Copy number loss	See cases	GPathogenic
Select item 59536	GRCh38/hg38 4q35.1-35.2(chr4:183354112-190042639)x1	ACSL1, ANKRD37 +228 more	Copy number loss	See cases	GPathogenic
Select item 57066	GRCh38/hg38 4q35.1-35.2(chr4:183528264-188624331)x1	ACSL1, ANKRD37 +197 more	Copy number loss	See cases	GPathogenic
Select item 147808	GRCh38/hg38 4q35.1-35.2(chr4:184239531-189975519)x1	ACSL1, ANKRD37 +206 more	Copy number loss	See cases	GPathogenic
Select item 144227	GRCh38/hg38 4q35.1-35.2(chr4:184327081-189975519)x1	ACSL1, ANKRD37 +185 more	Copy number loss	See cases	GLikely pathogenic
Select item 144226	GRCh38/hg38 4q35.1-35.2(chr4:184327081-189975519)x3	ACSL1, ANKRD37 +185 more	Copy number gain	See cases	GPathogenic
Select item 144741	GRCh38/hg38 4q35.1-35.2(chr4:184406972-188915538)x3	ACSL1, ANKRD37 +162 more	Copy number gain	See cases	GPathogenic
Select item 148840	GRCh38/hg38 4q35.1(chr4:184573059-185237739)x3	ACSL1, CASP3 +45 more	Copy number gain	See cases	GUncertain significance
Select item 152921	GRCh38/hg38 4q35.1-35.2(chr4:184924265-186578389)x3	ANKRD37, CCDC110 +69 more	Copy number gain	See cases	GPathogenic
Select item 59537	GRCh38/hg38 4q35.1-35.2(chr4:185074103-189867552)x1	ANKRD37, CCDC110 +118 more	Copy number loss	See cases	GPathogenic
Select item 1223152	NC_000004.12:g.185142931C>A	SLC25A4	Single nucleotide variant	not provided	GLikely benign
Select item 1289897	NC_000004.12:g.185143080T>A	LOC129993501, SLC25A4	Single nucleotide variant	not provided	GBenign
Select item 1265181	NC_000004.12:g.185143107C>G	LOC129993501, SLC25A4	Single nucleotide variant	not provided	GBenign
Select item 348241	NM_001151.3(SLC25A4):c.-108C>T	LOC129993501, SLC25A4	Single nucleotide variant	Progressive external ophthalmoplegia with mitochondrial DNA deletions	GBenign
Select item 348242	NM_001151.4(SLC25A4):c.-103C>T	LOC129993501, SLC25A4	Single nucleotide variant (5 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GBenign
Select item 348243	NM_001151.4(SLC25A4):c.-84C>A	LOC129993501, SLC25A4	Single nucleotide variant (5 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 +1 more	GBenign
Select item 902042	NM_001151.4(SLC25A4):c.-65C>T	LOC129993501, SLC25A4	Single nucleotide variant (5 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 +2 more	GUncertain significance
Select item 348244	NM_001151.4(SLC25A4):c.-46G>A	LOC129993501, SLC25A4	Single nucleotide variant (5 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GUncertain significance
Select item 139153	NM_001151.4(SLC25A4):c.-25G>A	SLC25A4	Single nucleotide variant (5 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 +2 more	GBenign
Select item 525144	NC_000004.12:g.(?_185143353)_(185535454_?)del	ANKRD37, CCDC110 +35 more	Deletion	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 2637533	NM_001151.4(SLC25A4):c.-15C>A	SLC25A4	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3347142	NM_001151.4(SLC25A4):c.-4C>T	SLC25A4	Single nucleotide variant (5 prime UTR variant)	SLC25A4-related disorder	GLikely benign
Select item 379549	NM_001151.4(SLC25A4):c.12C>A (p.His4Gln)	SLC25A4 (H4Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2985464	NM_001151.4(SLC25A4):c.14C>G (p.Ala5Gly)	SLC25A4 (A5G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1411326	NM_001151.4(SLC25A4):c.18G>T (p.Trp6Cys)	SLC25A4 (W6C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2845114	NM_001151.4(SLC25A4):c.27A>G (p.Leu9=)	SLC25A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3065047	NM_001151.4(SLC25A4):c.47G>A (p.Gly16Asp)	SLC25A4 (G16D)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GUncertain significance
Select item 1520582	NM_001151.4(SLC25A4):c.49G>A (p.Val17Ile)	SLC25A4 (V17I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1298975	NM_001151.4(SLC25A4):c.51C>A (p.Val17=)	SLC25A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2840251	NM_001151.4(SLC25A4):c.58G>A (p.Ala20Thr)	SLC25A4 (A20T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1717280	NM_001151.4(SLC25A4):c.59C>T (p.Ala20Val)	SLC25A4 (A20V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2581490	NM_001151.4(SLC25A4):c.60C>A (p.Ala20=)	SLC25A4	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3163738	NM_001151.4(SLC25A4):c.65C>A (p.Ser22Tyr)	SLC25A4 (S22Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 618878	NM_001151.4(SLC25A4):c.72C>G (p.Thr24=)	SLC25A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1967270	NM_001151.4(SLC25A4):c.73G>A (p.Ala25Thr)	SLC25A4 (A25T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2998168	NM_001151.4(SLC25A4):c.75G>A (p.Ala25=)	SLC25A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962251	NM_001151.4(SLC25A4):c.75G>C (p.Ala25=)	SLC25A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655209	NM_001151.4(SLC25A4):c.81C>T (p.Ala27=)	SLC25A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2077831	NM_001151.4(SLC25A4):c.81C>G (p.Ala27=)	SLC25A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1713956	NM_001151.4(SLC25A4):c.91A>G (p.Arg31Gly)	SLC25A4 (R31G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2102571	NM_001151.4(SLC25A4):c.96C>G (p.Val32=)	SLC25A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 452160	NM_001151.4(SLC25A4):c.98A>C (p.Lys33Thr)	SLC25A4 (K33T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2098505	NM_001151.4(SLC25A4):c.107dup (p.Gln37fs)	SLC25A4 (Q37fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 66011	NM_001151.4(SLC25A4):c.111+1G>A	SLC25A4	Single nucleotide variant (splice donor variant)	Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive	GPathogenic
Select item 2107821	NM_001151.4(SLC25A4):c.111+8C>T	SLC25A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1953345	NM_001151.4(SLC25A4):c.111+15G>A	SLC25A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001655	NM_001151.4(SLC25A4):c.111+17G>A	SLC25A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1657501	NM_001151.4(SLC25A4):c.111+20del	SLC25A4	Deletion (intron variant)	not provided	GLikely benign
Select item 1907576	NM_001151.4(SLC25A4):c.111+20A>G	SLC25A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676345	NM_001151.4(SLC25A4):c.111+119C>G	SLC25A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276620	NM_001151.4(SLC25A4):c.111+123CGCC[3]	SLC25A4	Microsatellite (intron variant)	not provided	GBenign
Select item 1177753	NM_001151.4(SLC25A4):c.111+123CGCC[5]	SLC25A4	Microsatellite (intron variant)	not provided	GBenign
Select item 1229813	NM_001151.4(SLC25A4):c.111+330G>A	SLC25A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673364	NM_001151.4(SLC25A4):c.112-267T>C	SLC25A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182434	NM_001151.4(SLC25A4):c.112-91dup	SLC25A4	Duplication (intron variant)	not provided	GBenign
Select item 1217965	NM_001151.4(SLC25A4):c.112-100A>C	SLC25A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296425	NM_001151.4(SLC25A4):c.112-65dup	SLC25A4	Duplication (intron variant)	not provided	GBenign

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