ClinVar for Gene (Select 2259) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3373142	NM_004115.4(FGF14):c.665G>C (p.Gly222Ala)	FGF14 (G138A +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368383	NM_001321938.2(FGF14):c.-248_-247del	FGF14 (L10fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3360972	NM_004115.4(FGF14):c.350A>G (p.Gln117Arg)	FGF14 (Q117R +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359664	NM_004115.4(FGF14):c.64G>C (p.Asp22His)	FGF14 (D22H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3346214	NM_004115.4(FGF14):c.438_466del (p.Lys146fs)	FGF14 (K112fs +8 more)	Deletion (frameshift variant)	FGF14-related disorder	GLikely pathogenic
Select item 3344062	NM_004115.4(FGF14):c.535G>C (p.Gly179Arg)	FGF14 (G116R +8 more)	Single nucleotide variant (missense variant)	FGF14-related disorder	GUncertain significance
Select item 3278625	NM_004115.4(FGF14):c.296C>G (p.Thr99Ser)	FGF14 (T52S +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3278624	NM_004115.4(FGF14):c.268G>A (p.Ala90Thr)	FGF14 (A28T +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3251410	NM_004115.4(FGF14):c.671C>T (p.Thr224Met)	FGF14 (T140M +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250803	NM_004115.4(FGF14):c.88C>T (p.Arg30Trp)	FGF14 (R30W)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3244215	NC_000013.10:g.(?_102375181)_(102527666_?)dup	FGF14	Duplication	not provided	GUncertain significance
Select item 3242333	GRCh37/hg19 13q32.3-34(chr13:99892724-115108414)x3	ABHD13, ADPRHL1 +66 more	Copy number gain	not provided	GPathogenic
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 3148881	GRCh37/hg19 13q32.2-33.3(chr13:98773859-109277603)x1	ABHD13, ARGLU1 +34 more	Copy number loss	not provided	GPathogenic
Select item 3111539	NM_004791.3(ITGBL1):c.1456G>C (p.Glu486Gln)	FGF14, ITGBL1 (E345Q +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3094699	NM_004115.4(FGF14):c.86G>A (p.Arg29Lys)	FGF14 (R29K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3094698	NM_004115.4(FGF14):c.692C>G (p.Ala231Gly)	FGF14 (A197G +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3063309	GRCh37/hg19 13q31.1-34(chr13:84669397-115107733)x1	ABCC4, ABHD13 +97 more	Copy number loss	not specified	GPathogenic
Select item 3063307	GRCh37/hg19 13q33.1-34(chr13:102421732-115107733)x1	ABHD13, ADPRHL1 +54 more	Copy number loss	not specified	GPathogenic
Select item 3063294	GRCh37/hg19 13q31.1-34(chr13:82876219-115107733)x3	ABCC4, ABHD13 +98 more	Copy number gain	not specified	GPathogenic
Select item 3063280	GRCh37/hg19 13q21.31-33.1(chr13:64825656-103641349)x1	ABCC4, ACOD1 +81 more	Copy number loss	not specified	GPathogenic
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 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 3024582	GRCh37/hg19 13q33.1(chr13:102105185-102379160)x1	FGF14, ITGBL1	Copy number loss	not provided	GPathogenic
Select item 3012998	NM_004115.4(FGF14):c.269C>G (p.Ala90Gly)	FGF14 (A28G +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3001671	NM_004115.4(FGF14):c.175C>A (p.Arg59Ser)	FGF14 (R59S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3000983	NM_004115.4(FGF14):c.101G>A (p.Ser34Asn)	FGF14 (S34N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2900725	NM_004115.4(FGF14):c.233G>A (p.Arg78Lys)	FGF14 (R31K +6 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2849354	NM_004115.4(FGF14):c.482T>G (p.Leu161Trp)	FGF14 (L114W +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2814935	NM_004115.4(FGF14):c.32G>T (p.Arg11Leu)	FGF14 (R11L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2813232	NM_004115.4(FGF14):c.193+20G>A	FGF14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2793311	NM_004115.4(FGF14):c.162C>T (p.Phe54=)	FGF14	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2759197	NM_004115.4(FGF14):c.175C>G (p.Arg59Gly)	FGF14 (R59G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2728237	NM_004115.4(FGF14):c.78C>T (p.Ala26=)	FGF14	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2721995	NM_004115.4(FGF14):c.165C>T (p.Gly55=)	FGF14	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2701942	NM_004115.4(FGF14):c.409-4A>C	FGF14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2685478	GRCh37/hg19 13q31.2-33.2(chr13:89012420-106371634)x1	PCCA, POGLUT2 +50 more	Copy number loss	not provided	GPathogenic
Select item 2685475	GRCh37/hg19 13q31.1-34(chr13:82131211-115107733)x1	ANKRD10, ANKRD10-IT1 +98 more	Copy number loss	not provided	GPathogenic
Select item 2685473	GRCh37/hg19 13q21.33-33.1(chr13:73132193-104595598)x1	ABCC4, ACOD1 +78 more	Copy number loss	not provided	GPathogenic
Select item 2684705	GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3	GPR18, GRTP1 +121 more	Copy number gain	not provided	GPathogenic
Select item 2684703	GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3	TBC1D4, TEX29 +129 more	Copy number gain	not provided	GPathogenic
Select item 2684190	NM_004115.4(FGF14):c.126C>T (p.Gly42=)	FGF14	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2643902	NM_004115.4(FGF14):c.408+40847T>C	FGF14	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2643901	NM_004115.4(FGF14):c.408+40859G>C	FGF14	Single nucleotide variant (stop lost +1 more)	not provided	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
Select item 2627976	NM_004115.4(FGF14):c.193+3C>T	FGF14	Single nucleotide variant (intron variant)	Spinocerebellar ataxia 27A	GUncertain significance
Select item 2607298	NM_004791.3(ITGBL1):c.1366G>A (p.Asp456Asn)	FGF14, ITGBL1 (D407N +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	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 2579261	GRCh38/hg38 13q32.2-34(chr13:98343655-110990677)x1	ABHD13, ANKRD10 +342 more	Copy number loss	Holoprosencephaly 5	GPathogenic
Select item 2570871	NM_004115.4(FGF14):c.423del (p.Glu142fs)	FGF14 (E108fs +8 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2541085	NM_004115.4(FGF14):c.260C>T (p.Pro87Leu)	FGF14 (P24L +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2526032	NM_004115.4(FGF14):c.683G>T (p.Ser228Ile)	FGF14 (S181I +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461207	NM_004115.4(FGF14):c.466A>G (p.Ile156Val)	FGF14 (I122V +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2446726	GRCh37/hg19 13q32.1-33.2(chr13:95700999-105271065)x3	DZIP1, ERCC5 +35 more	Copy number gain	See cases	GPathogenic
Select item 2441420	NM_004115.4(FGF14):c.68G>C (p.Arg23Pro)	FGF14 (R23P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2430157	NM_175929.3(FGF14):c.208+239747CTT[250]	FGF14	Microsatellite (intron variant)	Spinocerebellar ataxia 27B, late-onset	GPathogenic
Select item 2425688	NC_000013.10:g.(?_99336978)_(102379160_?)del	CLYBL, DOCK9 +13 more	Deletion	Holoprosencephaly 5	GPathogenic
Select item 2425024	NC_000013.10:g.(?_102521055)_(102568995_?)del	FGF14	Deletion	not provided	GPathogenic
Select item 2424668	NC_000013.10:g.(?_102521055)_(103718599_?)del	BIVM, BIVM-ERCC5 +8 more	Deletion	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	GPathogenic
Select item 2422806	NC_000013.10:g.(?_100038233)_(103718599_?)dup	BIVM, BIVM-ERCC5 +18 more	Duplication	not provided	GUncertain significance
Select item 2413592	NM_004115.4(FGF14):c.72G>C (p.Pro24=)	FGF14	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2340992	NM_004791.3(ITGBL1):c.1301G>A (p.Cys434Tyr)	FGF14, ITGBL1 (C293Y +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2335924	NM_004115.4(FGF14):c.640G>A (p.Val214Ile)	FGF14 (V182I +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300494	NM_004115.4(FGF14):c.409-1245_464del	FGF14	Deletion (splice acceptor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2300249	NM_004115.4(FGF14):c.255G>T (p.Met85Ile)	FGF14 (M22I +7 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2230625	NM_004115.4(FGF14):c.643G>C (p.Gly215Arg)	FGF14 (G183R +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230624	NM_004115.4(FGF14):c.608-3T>C	FGF14	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2221534	NM_175929.3(FGF14):c.113A>T (p.Lys38Ile)	FGF14 (K38I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2189986	NM_004115.4(FGF14):c.128A>G (p.Asn43Ser)	FGF14 (N43S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2177672	NM_004115.4(FGF14):c.194-9G>A	FGF14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2139035	NM_004115.4(FGF14):c.197C>A (p.Pro66His)	FGF14 (P3H +6 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2132844	NM_004115.4(FGF14):c.581C>T (p.Ala194Val)	FGF14 (A131V +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2128618	NM_004115.4(FGF14):c.428G>T (p.Cys143Phe)	FGF14 (C143F +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2110265	NM_004115.4(FGF14):c.608-17T>A	FGF14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2110022	NM_004115.4(FGF14):c.656C>T (p.Pro219Leu)	FGF14 (P135L +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1992058	NM_004115.4(FGF14):c.543T>C (p.Ala181=)	FGF14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1991124	NM_004115.4(FGF14):c.409-14T>C	FGF14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1987393	NM_004115.4(FGF14):c.194-18A>G	FGF14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1944080	NM_004115.4(FGF14):c.21C>T (p.Ser7=)	FGF14	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1940297	NM_004115.4(FGF14):c.540A>G (p.Gln180=)	FGF14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1931239	NM_004115.4(FGF14):c.645G>A (p.Gly215=)	FGF14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1925687	NM_004115.4(FGF14):c.315C>T (p.Asn105=)	FGF14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1809298	GRCh37/hg19 13q32.3-34(chr13:99421603-115107733)x3	ABHD13, ADPRHL1 +67 more	Copy number gain	not provided	GPathogenic
Select item 1808983	GRCh37/hg19 13q32.1-34(chr13:97142120-115107733)x1	ABHD13, ADPRHL1 +76 more	Copy number loss	not provided	GPathogenic
Select item 1808473	GRCh37/hg19 13q32.3-34(chr13:100334135-110383902)x1	ABHD13, ARGLU1 +25 more	Copy number loss	not provided	GPathogenic
Select item 1808276	GRCh37/hg19 13q31.3-33.2(chr13:93535335-105788229)x1	BIVM-ERCC5, CCDC168 +40 more	Copy number loss	not provided	GPathogenic
Select item 1807731	GRCh37/hg19 13q22.1-34(chr13:75268539-115107733)x3	ABCC4, ABHD13 +116 more	Copy number gain	not provided	GPathogenic
Select item 1807154	NM_004115.4(FGF14):c.304+5G>A	FGF14	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1807153	NM_175929.3(FGF14):c.177C>T (p.Gly59=)	FGF14	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1806864	NM_004115.4(FGF14):c.154C>T (p.Arg52Cys)	FGF14 (R52C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1806675	NM_004115.4(FGF14):c.305-2A>G	FGF14	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1806479	NG_008317.3:g.245717TTC[250_?]	FGF14	Microsatellite	Spinocerebellar ataxia 27B, late-onset	GPathogenic
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 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	B3GLCT, HS6ST3 +332 more	Copy number gain	not provided	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 1710296	NG_008317.3(FGF14):g.245719CTT[349]	FGF14	Microsatellite (intron variant)	Cerebellar ataxia	GPathogenic
Select item 1707439	GRCh37/hg19 13q31.2-34(chr13:89490345-115062235)x3	ABCC4, ABHD13 +93 more	Copy number gain	See cases	GPathogenic
Select item 1704904	NM_004115.4(FGF14):c.408+141dup	FGF14	Duplication (intron variant)	not provided	GLikely benign

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