Related gene-specific medical variations for Gene (Select 64319) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 599485	NM_001105079.3(FBRS):c.2594C>T (p.Pro865Leu)	FBRS (P865L)	Single nucleotide variant (missense variant)	Short stature	GUncertain significance
Select item 599484	NM_001105079.3(FBRS):c.2896C>G (p.Pro966Ala)	FBRS (P966A)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 599483	NM_001105079.3(FBRS):c.2137G>A (p.Gly713Ser)	FBRS (G713S)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic

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