ClinVar for MedGen (Select 373075) - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1704305	GRCh37/hg19 13q33.1(chr13:102535482-102815349)x3	FGF14	Copy number gain	Spinocerebellar ataxia type 27	GPathogenic
Select item 1704304	GRCh37/hg19 13q33.1(chr13:102250764-102412039)x1	FGF14, ITGBL1	Copy number loss	Spinocerebellar ataxia type 27	GPathogenic
Select item 976772	GRCh37/hg19 13q33.1(chr13:102521075-102568995)	FGF14	Copy number loss	Spinocerebellar ataxia type 27	GPathogenic
Select item 930775	NM_004115.4(FGF14):c.71C>T (p.Pro24Leu)	FGF14 (P24L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 930645	NM_004115.4(FGF14):c.429C>A (p.Cys143Ter)	FGF14 (C81* +8 more)	Single nucleotide variant (nonsense)	Spinocerebellar ataxia type 27	GUncertain significance
Select item 883324	NM_004115.4(FGF14):c.*553C>T	FGF14	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 27	GUncertain significance
Select item 883323	NM_004115.4(FGF14):c.*658T>G	FGF14	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 27	GUncertain significance
Select item 883322	NM_004115.4(FGF14):c.*699T>C	FGF14	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 27	GUncertain significance
Select item 882586	NM_004115.4(FGF14):c.261C>T (p.Pro87=)	FGF14	Single nucleotide variant (synonymous variant +1 more)	Spinocerebellar ataxia type 27	GLikely benign
Select item 882541	NM_004115.4(FGF14):c.*863G>C	FGF14	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 27	GUncertain significance
Select item 882540	NM_004115.4(FGF14):c.*1199A>G	FGF14	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 27	GUncertain significance
Select item 882270	NM_004115.4(FGF14):c.*1251G>A	FGF14	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 27	GUncertain significance
Select item 882269	NM_004115.4(FGF14):c.*1296A>C	FGF14	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 27	GUncertain significance
Select item 880961	NM_004115.4(FGF14):c.*361C>T	FGF14	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 27	GUncertain significance
Select item 880960	NM_004115.4(FGF14):c.*369A>G	FGF14	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 27	GUncertain significance
Select item 880959	NM_004115.4(FGF14):c.*535G>T	FGF14	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 27	GUncertain significance
Select item 880906	NM_004115.4(FGF14):c.*1772C>A	FGF14	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 27	GUncertain significance
Select item 880905	NM_004115.4(FGF14):c.*1918T>C	FGF14	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 27	GUncertain significance
Select item 880904	NM_004115.4(FGF14):c.*1948C>T	FGF14	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 27	GUncertain significance
Select item 873432	NM_004115.4(FGF14):c.652G>T (p.Val218Phe)	ITGBL1, FGF14 (V223F +8 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 27	GUncertain significance
Select item 790870	NM_004115.4(FGF14):c.468C>T (p.Ile156=)	FGF14	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 560058	Single allele	FGF14, LOC124946331 +1 more	Deletion	Spinocerebellar ataxia type 27	GLikely pathogenic
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 447324	NM_004115.4(FGF14):c.123C>T (p.Asn41=)	FGF14	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 310902	NM_004115.4(FGF14):c.124G>T (p.Gly42Cys)	FGF14 (G42C)	Single nucleotide variant (missense variant +1 more)	FGF14-related disorder +3 more	GBenign/Likely benign
Select item 310901	NM_004115.4(FGF14):c.384T>C (p.Asn128=)	FGF14	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 310900	NM_004115.4(FGF14):c.477C>T (p.Ser159=)	FGF14	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 27	GUncertain significance
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 310898	NM_004115.4(FGF14):c.608-10C>T	FGF14	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 310897	NM_004115.4(FGF14):c.620G>A (p.Arg207Gln)	FGF14 (R207Q +8 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 27 +1 more	GUncertain significance
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 310895	NM_004115.4(FGF14):c.651G>A (p.Thr217=)	FGF14	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 27	GUncertain significance
Select item 310894	NM_004115.4(FGF14):c.664G>A (p.Gly222Arg)	FGF14 (G222R +8 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 27	GUncertain significance
Select item 310893	NM_004115.4(FGF14):c.693G>A (p.Ala231=)	FGF14	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 27 +2 more	GBenign/Likely benign
Select item 310892	NM_004115.4(FGF14):c.*31G>A	FGF14	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 310890	NM_004115.4(FGF14):c.*176C>G	FGF14	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 27	GBenign
Select item 310888	NM_004115.4(FGF14):c.*414T>C	FGF14	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 27 +1 more	GConflicting classifications of pathogenicity
Select item 310887	NM_004115.4(FGF14):c.*471A>C	FGF14	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 27	GBenign
Select item 310886	NM_004115.4(FGF14):c.*554G>A	FGF14	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 27	GBenign
Select item 310885	NM_004115.4(FGF14):c.*567G>C	FGF14	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 27	GBenign
Select item 310884	NM_004115.4(FGF14):c.*744C>A	FGF14	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 27	GBenign
Select item 310883	NM_004115.4(FGF14):c.*777C>A	FGF14	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 27	GUncertain significance
Select item 310882	NM_004115.4(FGF14):c.*783C>G	FGF14	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 27	GUncertain significance
Select item 310876	NM_004115.4(FGF14):c.*974G>A	FGF14	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 27	GUncertain significance
Select item 310875	NM_004115.4(FGF14):c.*993C>T	FGF14	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 27	GUncertain significance
Select item 310874	NM_004115.4(FGF14):c.*1063G>A	FGF14	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 27	GBenign
Select item 310872	NM_004115.4(FGF14):c.*1071C>T	FGF14	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 27	GUncertain significance
Select item 310871	NM_004115.4(FGF14):c.*1072G>A	FGF14	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 27	GUncertain significance
Select item 310870	NM_004115.4(FGF14):c.*1118G>A	FGF14	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 27	GLikely benign
Select item 310868	NM_004115.4(FGF14):c.*1259C>T	FGF14	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 310865	NM_004115.4(FGF14):c.*1612G>T	FGF14	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 27	GBenign
Select item 310863	NM_004115.4(FGF14):c.*1618T>A	FGF14	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 27	GBenign
Select item 310861	NM_004115.4(FGF14):c.*1741T>C	FGF14	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 27	GLikely benign
Select item 310860	NM_004115.4(FGF14):c.*1761G>C	FGF14	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 27	GUncertain significance

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Items: 55