ClinVar for MedGen (Select 67390) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3763965	NM_023110.3(FGFR1):c.1285-16C>G	FGFR1	Single nucleotide variant (intron variant)	Pfeiffer syndrome +1 more	GLikely benign
Select item 3763810	NM_023110.3(FGFR1):c.2186+17G>A	FGFR1	Single nucleotide variant (intron variant)	Pfeiffer syndrome +1 more	GLikely benign
Select item 3763567	NM_023110.3(FGFR1):c.1363C>G (p.Pro455Ala)	FGFR1 (P362A +7 more)	Single nucleotide variant (missense variant)	Pfeiffer syndrome +1 more	GUncertain significance
Select item 3763012	NM_023110.3(FGFR1):c.621+18C>T	FGFR1	Single nucleotide variant (intron variant)	Pfeiffer syndrome +1 more	GLikely benign
Select item 3762998	NM_023110.3(FGFR1):c.1976A>G (p.Asn659Ser)	FGFR1 (N566S +7 more)	Single nucleotide variant (missense variant)	Pfeiffer syndrome +1 more	GUncertain significance
Select item 3762972	NM_023110.3(FGFR1):c.2049-16C>G	FGFR1	Single nucleotide variant (intron variant)	Pfeiffer syndrome +1 more	GLikely benign
Select item 3762867	NM_023110.3(FGFR1):c.2334C>G (p.Pro778=)	FGFR1	Single nucleotide variant (synonymous variant +1 more)	Pfeiffer syndrome +1 more	GLikely benign
Select item 3762819	NM_023110.3(FGFR1):c.2187-16T>C	FGFR1	Single nucleotide variant (intron variant)	Pfeiffer syndrome +1 more	GLikely benign
Select item 3762498	NM_023110.3(FGFR1):c.1359G>C (p.Gly453=)	FGFR1	Single nucleotide variant (synonymous variant)	Pfeiffer syndrome +1 more	GLikely benign
Select item 3762063	NM_023110.3(FGFR1):c.2191A>G (p.Met731Val)	FGFR1 (M638V +7 more)	Single nucleotide variant (missense variant)	Pfeiffer syndrome +1 more	GUncertain significance
Select item 3761066	NM_023110.3(FGFR1):c.546G>A (p.Gly182=)	FGFR1	Single nucleotide variant (synonymous variant)	Pfeiffer syndrome +1 more	GLikely benign
Select item 3761037	NM_023110.3(FGFR1):c.1944T>C (p.Ile648=)	FGFR1	Single nucleotide variant (synonymous variant)	Pfeiffer syndrome +1 more	GLikely benign
Select item 3760215	NM_023110.3(FGFR1):c.1350C>T (p.Ser450=)	FGFR1	Single nucleotide variant (synonymous variant)	Pfeiffer syndrome +1 more	GLikely benign
Select item 3759428	NM_023110.3(FGFR1):c.1231C>T (p.Gln411Ter)	FGFR1 (Q320* +5 more)	Single nucleotide variant (nonsense)	Pfeiffer syndrome +1 more	GPathogenic
Select item 3759370	NM_023110.3(FGFR1):c.525G>A (p.Lys175=)	FGFR1	Single nucleotide variant (synonymous variant)	Pfeiffer syndrome +1 more	GLikely benign
Select item 3759309	NM_023110.3(FGFR1):c.2186+2T>G	FGFR1	Single nucleotide variant (splice donor variant)	Pfeiffer syndrome +1 more	GLikely pathogenic
Select item 3759129	NM_023110.3(FGFR1):c.1810G>A (p.Ala604Thr)	FGFR1 (A511T +7 more)	Single nucleotide variant (missense variant)	Pfeiffer syndrome +1 more	GUncertain significance
Select item 3759032	NM_023110.3(FGFR1):c.1743G>A (p.Leu581=)	FGFR1	Single nucleotide variant (synonymous variant)	Pfeiffer syndrome +1 more	GLikely benign
Select item 3758635	NM_023110.3(FGFR1):c.1648G>C (p.Ala550Pro)	FGFR1 (A457P +7 more)	Single nucleotide variant (missense variant)	Pfeiffer syndrome +1 more	GUncertain significance
Select item 3758316	NM_023110.3(FGFR1):c.2002G>A (p.Ala668Thr)	FGFR1 (A575T +7 more)	Single nucleotide variant (missense variant)	Pfeiffer syndrome +1 more	GUncertain significance
Select item 3758310	NM_023110.3(FGFR1):c.1009G>A (p.Gly337Arg)	FGFR1 (G246R +5 more)	Single nucleotide variant (missense variant)	Pfeiffer syndrome +1 more	GUncertain significance
Select item 3758303	NM_023110.3(FGFR1):c.1882A>G (p.Asn628Asp)	FGFR1 (N535D +7 more)	Single nucleotide variant (missense variant)	Pfeiffer syndrome +1 more	GPathogenic
Select item 3758145	NM_023110.3(FGFR1):c.2283C>T (p.Thr761=)	FGFR1	Single nucleotide variant (synonymous variant)	Pfeiffer syndrome +1 more	GLikely benign
Select item 3757903	NM_023110.3(FGFR1):c.1441G>A (p.Gly481Ser)	FGFR1 (G388S +7 more)	Single nucleotide variant (missense variant)	Pfeiffer syndrome +1 more	GUncertain significance
Select item 3757902	NM_023110.3(FGFR1):c.1854+9C>T	FGFR1	Single nucleotide variant (intron variant)	Pfeiffer syndrome +1 more	GLikely benign
Select item 3757650	NM_023110.3(FGFR1):c.242T>C (p.Ile81Thr)	FGFR1 (I114T +2 more)	Single nucleotide variant (missense variant +1 more)	Pfeiffer syndrome +1 more	GUncertain significance
Select item 3756888	NM_023110.3(FGFR1):c.1844C>T (p.Ala615Val)	FGFR1 (A522V +7 more)	Single nucleotide variant (missense variant)	Pfeiffer syndrome +1 more	GUncertain significance
Select item 3756854	NM_023110.3(FGFR1):c.622-117_627dup	FGFR1	Duplication (splice acceptor variant)	Pfeiffer syndrome +1 more	GUncertain significance
Select item 3756187	NM_023110.3(FGFR1):c.2108G>T (p.Gly703Val)	FGFR1 (G610V +7 more)	Single nucleotide variant (missense variant)	Pfeiffer syndrome +1 more	GUncertain significance
Select item 3756101	NM_023110.3(FGFR1):c.1664-7C>T	FGFR1	Single nucleotide variant (intron variant)	Pfeiffer syndrome +1 more	GLikely benign
Select item 3756092	NM_023110.3(FGFR1):c.2071T>A (p.Trp691Arg)	FGFR1 (W598R +7 more)	Single nucleotide variant (missense variant)	Pfeiffer syndrome +1 more	GUncertain significance
Select item 3755835	NM_023110.3(FGFR1):c.2292+16C>A	FGFR1	Single nucleotide variant (intron variant)	Pfeiffer syndrome +1 more	GLikely benign
Select item 3755044	NM_023110.3(FGFR1):c.345_348del (p.Val116fs)	FGFR1 (V108fs +2 more)	Deletion (frameshift variant +1 more)	Pfeiffer syndrome +1 more	GPathogenic
Select item 3754529	NM_023110.3(FGFR1):c.818_819dup (p.Glu274fs)	FGFR1 (E183fs +5 more)	Duplication (frameshift variant)	Pfeiffer syndrome +1 more	GPathogenic
Select item 3754222	NM_023110.3(FGFR1):c.17G>T (p.Cys6Phe)	FGFR1 (C39F +1 more)	Single nucleotide variant (missense variant +1 more)	Pfeiffer syndrome +1 more	GUncertain significance
Select item 3754221	NM_023110.3(FGFR1):c.644T>C (p.Ile215Thr)	FGFR1 (I124T +5 more)	Single nucleotide variant (missense variant)	Pfeiffer syndrome +1 more	GUncertain significance
Select item 3754220	NM_023110.3(FGFR1):c.2215G>T (p.Ala739Ser)	FGFR1 (A646S +7 more)	Single nucleotide variant (missense variant)	Pfeiffer syndrome +1 more	GUncertain significance
Select item 3754219	NM_023110.3(FGFR1):c.2412G>T (p.Glu804Asp)	FGFR1 (E711D +7 more)	Single nucleotide variant (missense variant +1 more)	Pfeiffer syndrome +1 more	GUncertain significance
Select item 3753315	NM_023110.3(FGFR1):c.1937G>A (p.Arg646Gln)	FGFR1 (R553Q +7 more)	Single nucleotide variant (missense variant)	Pfeiffer syndrome +1 more	GUncertain significance
Select item 3753313	NM_023110.3(FGFR1):c.2292+13G>T	FGFR1	Single nucleotide variant (intron variant)	Pfeiffer syndrome +1 more	GLikely benign
Select item 3752940	NM_023110.3(FGFR1):c.2284T>G (p.Ser762Ala)	FGFR1 (S669A +7 more)	Single nucleotide variant (missense variant)	Pfeiffer syndrome +1 more	GUncertain significance
Select item 3752820	NM_023110.3(FGFR1):c.324C>T (p.Gly108=)	FGFR1	Single nucleotide variant (synonymous variant +1 more)	Pfeiffer syndrome +1 more	GLikely benign
Select item 3752702	NM_023110.3(FGFR1):c.805C>T (p.Leu269=)	FGFR1	Single nucleotide variant (synonymous variant)	Pfeiffer syndrome +1 more	GLikely benign
Select item 3752461	NM_023110.3(FGFR1):c.1855-3C>T	FGFR1	Single nucleotide variant (intron variant)	Pfeiffer syndrome +1 more	GUncertain significance
Select item 3752420	NM_023110.3(FGFR1):c.2067C>T (p.Leu689=)	FGFR1	Single nucleotide variant (synonymous variant)	Pfeiffer syndrome +1 more	GLikely benign
Select item 3752129	NM_023110.3(FGFR1):c.1435G>A (p.Val479Ile)	FGFR1 (V386I +7 more)	Single nucleotide variant (missense variant)	Pfeiffer syndrome +1 more	GUncertain significance
Select item 3752110	NM_023110.3(FGFR1):c.696G>A (p.Val232=)	FGFR1	Single nucleotide variant (synonymous variant)	Pfeiffer syndrome +1 more	GLikely benign
Select item 3752062	NM_023110.3(FGFR1):c.448+15C>G	FGFR1	Single nucleotide variant (intron variant)	Pfeiffer syndrome +1 more	GLikely benign
Select item 3751786	NM_023110.3(FGFR1):c.1758C>T (p.Asn586=)	FGFR1	Single nucleotide variant (synonymous variant)	Pfeiffer syndrome +1 more	GLikely benign
Select item 3751420	NM_023110.3(FGFR1):c.2187-7G>A	FGFR1	Single nucleotide variant (intron variant)	Pfeiffer syndrome +1 more	GLikely benign
Select item 3751394	NM_023110.3(FGFR1):c.1552+16G>T	FGFR1	Single nucleotide variant (intron variant)	Pfeiffer syndrome +1 more	GLikely benign
Select item 3751354	NM_023110.3(FGFR1):c.321G>C (p.Ser107=)	FGFR1	Single nucleotide variant (synonymous variant +1 more)	Pfeiffer syndrome +1 more	GLikely benign
Select item 3751252	NM_023110.3(FGFR1):c.2205C>T (p.Asp735=)	FGFR1	Single nucleotide variant (synonymous variant)	Pfeiffer syndrome +1 more	GLikely benign
Select item 3750795	NM_023110.3(FGFR1):c.501A>C (p.Ala167=)	FGFR1	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely benign
Select item 3750595	NM_023110.3(FGFR1):c.1576T>C (p.Ser526Pro)	FGFR1 (S433P +7 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GUncertain significance
Select item 3749355	NM_023110.3(FGFR1):c.1255A>G (p.Lys419Glu)	FGFR1 (K328E +5 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GUncertain significance
Select item 3749205	NM_023110.3(FGFR1):c.309C>T (p.Thr103=)	FGFR1	Single nucleotide variant (synonymous variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely benign
Select item 3749164	NM_023110.3(FGFR1):c.1075C>T (p.Leu359=)	FGFR1	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely benign
Select item 3749067	NM_023110.3(FGFR1):c.745+10C>G	FGFR1	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely benign
Select item 3748909	NM_023110.3(FGFR1):c.233G>A (p.Arg78His)	FGFR1 (R111H +2 more)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GUncertain significance
Select item 3748572	NM_023110.3(FGFR1):c.534C>T (p.Cys178=)	FGFR1	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely benign
Select item 3748508	NM_023110.3(FGFR1):c.1420C>G (p.Pro474Ala)	FGFR1 (P381A +7 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GUncertain significance
Select item 3748499	NM_023110.3(FGFR1):c.2160C>T (p.Asp720=)	FGFR1	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely benign
Select item 3748158	NM_023110.3(FGFR1):c.2248C>T (p.Leu750=)	FGFR1	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely benign
Select item 3748017	NM_023110.3(FGFR1):c.1663+11dup	FGFR1	Duplication (intron variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely benign
Select item 3595612	NM_023110.3(FGFR1):c.92-14C>A	FGFR1	Single nucleotide variant (intron variant)	Jackson-Weiss syndrome +6 more	GUncertain significance
Select item 3595611	NM_023110.3(FGFR1):c.148C>T (p.Leu50=)	FGFR1	Single nucleotide variant (synonymous variant +1 more)	Jackson-Weiss syndrome +6 more	GUncertain significance
Select item 3595610	NM_023110.3(FGFR1):c.176A>T (p.Asp59Val)	FGFR1 (D92V +2 more)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +6 more	GUncertain significance
Select item 3595609	NM_023110.3(FGFR1):c.622-20C>T	FGFR1	Single nucleotide variant (intron variant)	Jackson-Weiss syndrome +6 more	GUncertain significance
Select item 3595608	NM_023110.3(FGFR1):c.626G>A (p.Arg209His)	FGFR1 (R201H +5 more)	Single nucleotide variant (missense variant)	Jackson-Weiss syndrome +6 more	GUncertain significance
Select item 3595607	NM_023110.3(FGFR1):c.827T>C (p.Met276Thr)	FGFR1 (M187T +5 more)	Single nucleotide variant (missense variant)	Jackson-Weiss syndrome +6 more	GUncertain significance
Select item 3595606	NM_023110.3(FGFR1):c.1039A>G (p.Ile347Val)	FGFR1 (I345V +5 more)	Single nucleotide variant (missense variant)	Jackson-Weiss syndrome +6 more	GUncertain significance
Select item 3595605	NM_023110.3(FGFR1):c.1137C>T (p.Ile379=)	FGFR1	Single nucleotide variant (synonymous variant)	Jackson-Weiss syndrome +6 more	GUncertain significance
Select item 3595604	NM_023110.3(FGFR1):c.1171G>A (p.Val391Met)	FGFR1 (V391M +5 more)	Single nucleotide variant (missense variant)	Jackson-Weiss syndrome +6 more	GUncertain significance
Select item 3595603	NM_023110.3(FGFR1):c.1196T>C (p.Met399Thr)	FGFR1 (M308T +5 more)	Single nucleotide variant (missense variant)	Jackson-Weiss syndrome +6 more	GUncertain significance
Select item 3595602	NM_023110.3(FGFR1):c.1270C>A (p.Arg424Ser)	FGFR1 (R335S +5 more)	Single nucleotide variant (missense variant)	Jackson-Weiss syndrome +6 more	GUncertain significance
Select item 3595601	NM_023110.3(FGFR1):c.1285-18C>G	FGFR1	Single nucleotide variant (intron variant)	Jackson-Weiss syndrome +6 more	GUncertain significance
Select item 3595600	NM_023110.3(FGFR1):c.1288T>A (p.Ser430Thr)	FGFR1 (S337T +7 more)	Single nucleotide variant (missense variant)	Jackson-Weiss syndrome +6 more	GUncertain significance
Select item 3595597	NM_023110.3(FGFR1):c.1309A>G (p.Met437Val)	FGFR1 (M468V +7 more)	Single nucleotide variant (missense variant)	Jackson-Weiss syndrome +7 more	GUncertain significance
Select item 3595596	NM_023110.3(FGFR1):c.1324C>G (p.Leu442Val)	FGFR1 (L353V +7 more)	Single nucleotide variant (missense variant)	Jackson-Weiss syndrome +6 more	GLikely benign
Select item 3595595	NM_023110.3(FGFR1):c.1383T>C (p.Ser461=)	FGFR1	Single nucleotide variant (synonymous variant)	Jackson-Weiss syndrome +6 more	GUncertain significance
Select item 3595594	NM_023110.3(FGFR1):c.1710G>T (p.Arg570=)	FGFR1	Single nucleotide variant (synonymous variant)	Jackson-Weiss syndrome +6 more	GUncertain significance
Select item 3595593	NM_023110.3(FGFR1):c.1767C>A (p.His589Gln)	FGFR1 (H496Q +7 more)	Single nucleotide variant (missense variant)	Jackson-Weiss syndrome +6 more	GUncertain significance
Select item 3595592	NM_023110.3(FGFR1):c.1793A>C (p.Lys598Thr)	FGFR1 (K505T +7 more)	Single nucleotide variant (missense variant)	Jackson-Weiss syndrome +6 more	GUncertain significance
Select item 3595591	NM_023110.3(FGFR1):c.1854+2T>C	FGFR1	Single nucleotide variant (splice donor variant)	Jackson-Weiss syndrome +6 more	GLikely pathogenic
Select item 3595590	NM_023110.3(FGFR1):c.2031C>T (p.Tyr677=)	FGFR1	Single nucleotide variant (synonymous variant)	Jackson-Weiss syndrome +6 more	GUncertain significance
Select item 3595589	NM_023110.3(FGFR1):c.2121G>A (p.Glu707=)	FGFR1	Single nucleotide variant (synonymous variant)	Jackson-Weiss syndrome +6 more	GUncertain significance
Select item 3595588	NM_023110.3(FGFR1):c.2150A>G (p.His717Arg)	FGFR1 (H713R +7 more)	Single nucleotide variant (missense variant)	Jackson-Weiss syndrome +6 more	GUncertain significance
Select item 3595587	NM_023110.3(FGFR1):c.2228A>G (p.Gln743Arg)	FGFR1 (Q652R +7 more)	Single nucleotide variant (missense variant)	Jackson-Weiss syndrome +6 more	GUncertain significance
Select item 3595586	NM_023110.3(FGFR1):c.2292G>C (p.Gln764His)	FGFR1 (Q795H +7 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +7 more	GUncertain significance
Select item 3595585	NM_023110.3(FGFR1):c.2313G>A (p.Met771Ile)	FGFR1 (M678I +7 more)	Single nucleotide variant (missense variant +1 more)	Jackson-Weiss syndrome +6 more	GUncertain significance
Select item 3595584	NM_023110.3(FGFR1):c.2360C>T (p.Thr787Met)	FGFR1 (T783M +7 more)	Single nucleotide variant (missense variant +1 more)	Jackson-Weiss syndrome +6 more	GUncertain significance
Select item 3595583	NM_023110.3(FGFR1):c.2413C>T (p.Pro805Ser)	FGFR1 (P795S +7 more)	Single nucleotide variant (missense variant +1 more)	Jackson-Weiss syndrome +6 more	GUncertain significance
Select item 3591126	NM_000141.5(FGFR2):c.43A>C (p.Met15Leu)	FGFR2 (M15L)	Single nucleotide variant (missense variant +1 more)	Bent bone dysplasia syndrome 1 +10 more	GUncertain significance
Select item 3591104	NM_000141.5(FGFR2):c.119C>T (p.Thr40Ile)	FGFR2 (T40I)	Single nucleotide variant (missense variant +1 more)	Bent bone dysplasia syndrome 1 +10 more	GUncertain significance
Select item 3591089	NM_000141.5(FGFR2):c.151G>A (p.Val51Met)	FGFR2 (V51M)	Single nucleotide variant (missense variant +1 more)	Bent bone dysplasia syndrome 1 +10 more	GUncertain significance
Select item 3591071	NM_000141.5(FGFR2):c.195A>G (p.Lys65=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	Bent bone dysplasia syndrome 1 +10 more	GUncertain significance
Select item 3591064	NM_000141.5(FGFR2):c.236T>G (p.Leu79Trp)	FGFR2 (L79W)	Single nucleotide variant (missense variant +1 more)	Bent bone dysplasia syndrome 1 +10 more	GUncertain significance
Select item 3591056	NM_000141.5(FGFR2):c.248A>T (p.Asn83Ile)	FGFR2 (N83I)	Single nucleotide variant (missense variant +1 more)	Bent bone dysplasia syndrome 1 +10 more	GUncertain significance
Select item 3591007	NM_000141.5(FGFR2):c.556A>G (p.Met186Val)	FGFR2 (M186V +2 more)	Single nucleotide variant (missense variant +1 more)	FGFR2-related craniosynostosis +11 more	GConflicting classifications of pathogenicity

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