C4747991[trait identifier] AND "Center for Genomic Medicine, King Fais - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 666409	NM_003054.6(SLC18A2):c.710C>A (p.Pro237His)	SLC18A2 (P237H)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile, 2 +1 more	GConflicting classifications of pathogenicity
Select item 548130	NM_003054.6(SLC18A2):c.1160C>T (p.Pro387Leu)	SLC18A2 (P387L)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile, 2	GLikely pathogenic