Related gene-specific medical variations for Gene (Select 203427) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3319254	NM_145305.3(SLC25A43):c.17G>T (p.Arg6Leu)	LOC130068590, SLC25A43 (R6L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163766	NM_145305.3(SLC25A43):c.167G>A (p.Gly56Glu)	LOC130068590, SLC25A43 (G56E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163765	NM_145305.3(SLC25A43):c.134T>C (p.Val45Ala)	LOC130068590, SLC25A43 (V45A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057104	NM_145305.3(SLC25A43):c.57T>C (p.Ala19=)	LOC130068590, SLC25A43	Single nucleotide variant (synonymous variant)	SLC25A43-related disorder	GBenign
Select item 2685716	GRCh37/hg19 Xq24(chrX:118474781-118552267)x1	SLC25A43	Copy number loss	not provided	GUncertain significance
Select item 2685133	GRCh37/hg19 Xq24(chrX:118400946-118564608)x0	SLC25A43	Copy number loss	not provided	GUncertain significance
Select item 2485237	NM_145305.3(SLC25A43):c.119C>T (p.Ala40Val)	LOC130068590, SLC25A43 (A40V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388759	NM_145305.3(SLC25A43):c.184G>A (p.Ala62Thr)	LOC130068590, SLC25A43 (A62T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301207	NM_145305.3(SLC25A43):c.55G>T (p.Ala19Ser)	LOC130068590, SLC25A43 (A19S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212766	NM_145305.3(SLC25A43):c.224C>T (p.Ala75Val)	LOC130068590, SLC25A43 (A75V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 687980	GRCh37/hg19 Xq24(chrX:118448972-118601219)x0	SLC25A43	Copy number loss	not provided	GUncertain significance
Select item 686428	GRCh37/hg19 Xq24(chrX:118483217-118593000)x1	SLC25A43	Copy number loss	not provided	GUncertain significance
Select item 564889	GRCh37/hg19 Xq24(chrX:118500893-118576253)x0	SLC25A43	Copy number loss	not provided	GUncertain significance