"PreventionGenetics, part of Exact Sciences"[submitter] AND "SLC25A12" - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3049843	NM_003705.5(SLC25A12):c.*5A>G	SLC25A12	Single nucleotide variant (3 prime UTR variant +1 more)	SLC25A12-related disorder	GLikely benign
Select item 1623297	NM_003705.5(SLC25A12):c.1923C>T (p.Leu641=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	SLC25A12-related disorder +1 more	GLikely benign
Select item 414024	NM_003705.5(SLC25A12):c.1794T>C (p.Tyr598=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	SLC25A12-related disorder +1 more	GBenign
Select item 697046	NM_003705.5(SLC25A12):c.1756C>A (p.Arg586=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	SLC25A12-related disorder +1 more	GLikely benign
Select item 546880	NM_003705.5(SLC25A12):c.1654G>A (p.Ala552Thr)	SLC25A12 (A552T)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 39 +2 more	GConflicting classifications of pathogenicity
Select item 332338	NM_003705.5(SLC25A12):c.1458G>A (p.Ala486=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	SLC25A12-related disorder +1 more	GBenign/Likely benign
Select item 332340	NM_003705.5(SLC25A12):c.1338A>C (p.Pro446=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	SLC25A12-related disorder +1 more	GBenign
Select item 698790	NM_003705.5(SLC25A12):c.1035T>C (p.Tyr345=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	SLC25A12-related disorder +1 more	GLikely benign
Select item 697903	NM_003705.5(SLC25A12):c.813A>G (p.Leu271=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	SLC25A12-related disorder +1 more	GLikely benign
Select item 696792	NM_003705.5(SLC25A12):c.469C>T (p.Leu157=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	SLC25A12-related disorder +1 more	GLikely benign
Select item 696727	NM_003705.5(SLC25A12):c.12+7C>G	SLC25A12	Single nucleotide variant (intron variant)	SLC25A12-related disorder +1 more	GLikely benign