"SLC25A11-related disorder"[Disease/phenotype] AND "PreventionGenetics - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3055304	NM_003562.5(SLC25A11):c.576C>T (p.Val192=)	SLC25A11	Single nucleotide variant (synonymous variant)	SLC25A11-related disorder	GLikely benign
Select item 3047798	NM_003562.5(SLC25A11):c.538C>T (p.Leu180=)	SLC25A11	Single nucleotide variant (synonymous variant)	SLC25A11-related disorder	GLikely benign
Select item 3041511	NM_003562.5(SLC25A11):c.432T>A (p.Leu144=)	SLC25A11	Single nucleotide variant (synonymous variant)	SLC25A11-related disorder	GLikely benign
Select item 1013124	NM_003562.5(SLC25A11):c.262C>T (p.Leu88=)	SLC25A11	Single nucleotide variant (synonymous variant)	SLC25A11-related disorder +1 more	GBenign/Likely benign
Select item 3049461	NM_003562.5(SLC25A11):c.57C>T (p.Ser19=)	SLC25A11	Single nucleotide variant (synonymous variant)	SLC25A11-related disorder	GLikely benign

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