FGF17[gene] and "single gene"[properties] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1244789	NC_000008.11:g.22042640T>A	FGF17	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1186919	NM_003867.4(FGF17):c.-38G>A	FGF17	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 748519	NM_003867.4(FGF17):c.12C>A (p.Ala4=)	FGF17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2287833	NM_003867.4(FGF17):c.13C>T (p.Arg5Cys)	FGF17 (R5C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305549	NM_003867.4(FGF17):c.14G>A (p.Arg5His)	FGF17 (R5H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1974805	NM_003867.4(FGF17):c.35+15T>A	FGF17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1274717	NM_003867.4(FGF17):c.35+31C>G	FGF17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 745035	NM_003867.4(FGF17):c.72+7G>A	FGF17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220197	NM_003867.4(FGF17):c.72+57C>T	FGF17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248234	NM_003867.4(FGF17):c.72+65A>G	FGF17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182914	NM_003867.4(FGF17):c.73-309G>A	FGF17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195403	NM_003867.4(FGF17):c.73-190C>T	FGF17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2182303	NM_003867.4(FGF17):c.73-7C>T	FGF17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1959121	NM_003867.4(FGF17):c.73-6G>A	FGF17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 730454	NM_003867.4(FGF17):c.87G>T (p.Pro29=)	FGF17	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2169402	NM_003867.4(FGF17):c.132C>T (p.Thr44=)	FGF17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 732853	NM_003867.4(FGF17):c.159C>T (p.Arg53=)	FGF17	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1954198	NM_003867.4(FGF17):c.207C>T (p.Thr69=)	FGF17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2320382	NM_003867.4(FGF17):c.212G>A (p.Arg71His)	FGF17 (R60H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2081671	NM_003867.4(FGF17):c.222C>T (p.Ser74=)	FGF17	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2902501	NM_003867.4(FGF17):c.237C>T (p.Asp79=)	FGF17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2619505	NM_003867.4(FGF17):c.241A>G (p.Asn81Asp)	FGF17 (N70D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1600733	NM_003867.4(FGF17):c.250+7G>A	FGF17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 731607	NM_003867.4(FGF17):c.251-9C>A	FGF17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2609701	NM_003867.4(FGF17):c.257T>C (p.Leu86Pro)	FGF17 (L86P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2630280	NM_003867.4(FGF17):c.287G>A (p.Arg96Gln)	FGF17 (R85Q +1 more)	Single nucleotide variant (missense variant)	FGF17-related disorder	GUncertain significance
Select item 50858	NM_003867.4(FGF17):c.323T>C (p.Ile108Thr)	FGF17 (I108T +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 20 with or without anosmia	Grisk factor
Select item 1293466	NM_003867.4(FGF17):c.339G>A (p.Arg113=)	FGF17	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 743757	NM_003867.4(FGF17):c.345G>A (p.Lys115=)	FGF17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658461	NM_003867.4(FGF17):c.351C>T (p.Ile117=)	FGF17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1992147	NM_003867.4(FGF17):c.357+16T>C	FGF17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293289	NM_003867.4(FGF17):c.357+68T>C	FGF17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2776966	NM_003867.4(FGF17):c.359C>A (p.Pro120His)	FGF17 (P109H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2805297	NM_003867.4(FGF17):c.444C>T (p.Gly148=)	FGF17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2091681	NM_003867.4(FGF17):c.518A>G (p.His173Arg)	FGF17 (H162R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 50859	NM_003867.4(FGF17):c.530G>A (p.Arg177His)	FGF17 (R177H +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 20 without anosmia	GPathogenic
Select item 3278626	NM_003867.4(FGF17):c.533T>C (p.Leu178Pro)	FGF17 (L167P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094701	NM_003867.4(FGF17):c.541G>A (p.Gly181Ser)	FGF17 (G170S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 50860	NM_003867.4(FGF17):c.560A>G (p.Asn187Ser)	FGF17 (N187S +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 20 with or without anosmia	GPathogenic
Select item 792805	NM_003867.4(FGF17):c.572A>G (p.Lys191Arg)	FGF17 (K191R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2287919	NM_003867.4(FGF17):c.592G>T (p.Val198Leu)	FGF17 (V198L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770945	NM_003867.4(FGF17):c.597C>T (p.Gly199=)	FGF17	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 2582100	NM_003867.4(FGF17):c.599C>A (p.Ser200Tyr)	FGF17 (S189Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1410078	NM_003867.4(FGF17):c.614G>A (p.Arg205Gln)	FGF17 (R205Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2707904	NM_003867.4(FGF17):c.630G>T (p.Arg210=)	FGF17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964040	NM_003867.4(FGF17):c.634C>T (p.Pro212Ser)	FGF17 (P201S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1260686	NM_003867.4(FGF17):c.*12G>C	FGF17	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign

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Items: 47