"PreventionGenetics, part of Exact Sciences"[submitter] AND "FGF14"[ge - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 310896	NM_004115.4(FGF14):c.636T>C (p.His212=)	FGF14	Single nucleotide variant (synonymous variant)	FGF14-related disorder +3 more	GBenign/Likely benign
Select item 447328	NM_004115.4(FGF14):c.579A>T (p.Ala193=)	FGF14	Single nucleotide variant (synonymous variant)	FGF14-related disorder +2 more	GBenign/Likely benign
Select item 310899	NM_004115.4(FGF14):c.481T>C (p.Leu161=)	FGF14	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 1723288	NM_004115.4(FGF14):c.408+1G>A	FGF14	Single nucleotide variant (splice donor variant)	Spinocerebellar ataxia type 27 +1 more	GLikely pathogenic
Select item 310902	NM_004115.4(FGF14):c.124G>T (p.Gly42Cys)	FGF14 (G42C)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 1675528	NM_001321940.1(FGF14):c.2T>C (p.Met1Thr)	FGF14 (M1T)	Single nucleotide variant (missense variant +2 more)	FGF14-related disorder +1 more	GBenign
Select item 3040691	NM_001321941.2(FGF14):c.1A>G (p.Met1Val)	FGF14, FGF14-IT1 (M1V)	Single nucleotide variant (missense variant +3 more)	FGF14-related disorder	GLikely benign
Select item 2631003	NM_001321947.2(FGF14):c.2T>C (p.Met1Thr)	FGF14 (M14T +2 more)	Single nucleotide variant (missense variant +2 more)	FGF14-related disorder	GUncertain significance

ClinVar