ClinVar for MedGen (Select 1788285) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1334589	NM_138773.4(SLC25A46):c.479G>A (p.Trp160Ter)	SLC25A46 (W160* +1 more)	Single nucleotide variant (nonsense +1 more)	Pontocerebellar hypoplasia, type 1E +1 more	GLikely pathogenic
Select item 1068768	NM_138773.4(SLC25A46):c.42C>G (p.Tyr14Ter)	SLC25A46 (Y14*)	Single nucleotide variant (nonsense +2 more)	Pontocerebellar hypoplasia, type 1E	GPathogenic
Select item 1068766	NM_138773.4(SLC25A46):c.326+549_385-1240del	SLC25A46	Deletion (splice acceptor variant +1 more)	Pontocerebellar hypoplasia, type 1E	GPathogenic
Select item 1068765	NM_138773.4(SLC25A46):c.691C>T (p.Arg231Ter)	SLC25A46 (R231* +1 more)	Single nucleotide variant (nonsense +2 more)	Pontocerebellar hypoplasia, type 1E	GPathogenic
Select item 938735	NM_138773.4(SLC25A46):c.462+1G>A	SLC25A46	Single nucleotide variant (splice donor variant)	Neuropathy, hereditary motor and sensory, type 6B	GPathogenic
Select item 488599	NM_138773.4(SLC25A46):c.736A>T (p.Arg246Ter)	SLC25A46 (R246* +1 more)	Single nucleotide variant (nonsense +2 more)	Neuropathy, hereditary motor and sensory, type 6B	GLikely pathogenic
Select item 422422	NM_138773.4(SLC25A46):c.11_12insTG (p.Arg5fs)	SLC25A46 (R5fs)	Insertion (frameshift variant +2 more)	not provided +3 more	GPathogenic
Select item 374894	NM_138773.4(SLC25A46):c.425C>T (p.Thr142Ile)	SLC25A46 (T142I +1 more)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia, type 1E	GPathogenic
Select item 374892	NM_138773.4(SLC25A46):c.1022T>C (p.Leu341Pro)	SLC25A46 (L341P +2 more)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia, type 1E	GPathogenic
Select item 372242	NM_138773.4(SLC25A46):c.1018C>T (p.Arg340Cys)	SLC25A46 (R340C +2 more)	Single nucleotide variant (missense variant +1 more)	Neuropathy, hereditary motor and sensory, type 6B +1 more	GPathogenic
Select item 372241	NM_138773.4(SLC25A46):c.998C>T (p.Pro333Leu)	SLC25A46 (P333L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 372240	NM_138773.4(SLC25A46):c.882_885dup (p.Asn296fs)	SLC25A46 (N296fs +1 more)	Duplication (frameshift variant +2 more)	not provided	GLikely pathogenic