C5568981[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 978230	NM_001199753.2(CPT1C):c.2T>G (p.Met1Arg)	CPT1C (M1R)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 73	GLikely pathogenic
Select item 1236208	NM_001199753.2(CPT1C):c.1064C>T (p.Pro355Leu)	CPT1C (P344L +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 73	GUncertain significance