ClinVar for OMIM (Select 193003) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3255137	NM_004115.4(FGF14):c.256C>T (p.His86Tyr)	FGF14 (H23Y +7 more)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia 27A	GUncertain significance
Select item 3238851	NM_004115.4(FGF14):c.20G>T (p.Ser7Ile)	FGF14 (S7I)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia 27A	GUncertain significance
Select item 3064124	NM_004115.4(FGF14):c.194-1G>C	FGF14	Single nucleotide variant (splice acceptor variant +1 more)	Spinocerebellar ataxia 27A	GLikely pathogenic
Select item 3061913	NM_004115.4(FGF14):c.512G>A (p.Trp171Ter)	FGF14 (W108* +8 more)	Single nucleotide variant (nonsense)	Spinocerebellar ataxia 27A	GPathogenic
Select item 2627976	NM_004115.4(FGF14):c.193+3C>T	FGF14	Single nucleotide variant (intron variant)	Spinocerebellar ataxia 27A	GUncertain significance
Select item 2580192	NM_001321932.1(FGF14):c.4+1G>A	FGF14	Single nucleotide variant (intron variant +1 more)	Spinocerebellar ataxia 27A	GPathogenic
Select item 1710304	NM_004115.4(FGF14):c.211dup (p.Ile71fs)	FGF14 (I11fs +6 more)	Duplication (5 prime UTR variant +2 more)	Spinocerebellar ataxia 27A	GPathogenic
Select item 1694709	NM_004115.4(FGF14):c.439G>T (p.Glu147Ter)	FGF14 (E100* +8 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 489406	NM_004115.4(FGF14):c.529A>T (p.Lys177Ter)	FGF14 (K177* +8 more)	Single nucleotide variant (nonsense)	Spinocerebellar ataxia 27A +1 more	GPathogenic
Select item 8116	NM_004115.4(FGF14):c.487del (p.Arg163fs)	FGF14 (R163fs +8 more)	Deletion (frameshift variant)	Spinocerebellar ataxia 27A	GPathogenic
Select item 8115	NM_004115.4(FGF14):c.434T>C (p.Phe145Ser)	FGF14 (F145S +8 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 27A	GPathogenic