Related gene-specific medical variations for Gene (Select 8604) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1700200	NM_003705.5(SLC25A12):c.1490T>A (p.Ile497Asn)	SLC25A12 (I497N)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 1	GLikely pathogenic
Select item 804390	NM_003705.5(SLC25A12):c.326-2A>C	SLC25A12	Single nucleotide variant (splice acceptor variant)	Developmental and epileptic encephalopathy, 39	GLikely pathogenic
Select item 236347	Single allele	SLC25A12	Duplication	Autism spectrum disorder	GUncertain significance

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