ClinVar for MedGen (Select 850742) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244924	NC_000010.10:g.(?_123310784)_(123325238_?)dup	FGFR2	Duplication	FGFR2-related craniosynostosis	GUncertain significance
Select item 3244923	NC_000010.10:g.(?_123323996)_(123325238_?)dup	FGFR2	Duplication	FGFR2-related craniosynostosis	GUncertain significance
Select item 3244922	NC_000010.10:g.(?_122610933)_(124813281_?)dup	ACADSB, ARMS2 +16 more	Duplication	FGFR2-related craniosynostosis	GUncertain significance
Select item 3011366	NM_000141.5(FGFR2):c.108A>G (p.Glu36=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	FGFR2-related craniosynostosis	GUncertain significance
Select item 2995548	NM_000141.5(FGFR2):c.1326C>T (p.Thr442=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	FGFR2-related craniosynostosis	GLikely benign
Select item 2986411	NM_000141.5(FGFR2):c.43A>G (p.Met15Val)	FGFR2 (M15V)	Single nucleotide variant (missense variant +1 more)	FGFR2-related craniosynostosis	GUncertain significance
Select item 2985863	NM_000141.5(FGFR2):c.1254G>T (p.Leu418=)	FGFR2	Single nucleotide variant (synonymous variant +2 more)	FGFR2-related craniosynostosis	GLikely benign
Select item 2985463	NM_000141.5(FGFR2):c.1750A>G (p.Met584Val)	FGFR2 (M467V +9 more)	Single nucleotide variant (missense variant +1 more)	FGFR2-related craniosynostosis	GUncertain significance
Select item 2980938	NM_000141.5(FGFR2):c.1299G>C (p.Glu433Asp)	FGFR2 (E344D +9 more)	Single nucleotide variant (missense variant +1 more)	FGFR2-related craniosynostosis	GUncertain significance
Select item 2977031	NM_000141.5(FGFR2):c.963C>A (p.Asp321Glu)	FGFR2 (D321E +3 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis	GLikely pathogenic
Select item 2969432	NM_000141.5(FGFR2):c.1084+4T>C	FGFR2	Single nucleotide variant (intron variant)	FGFR2-related craniosynostosis	GUncertain significance
Select item 2962540	NM_000141.5(FGFR2):c.1673-8C>T	FGFR2	Single nucleotide variant (intron variant)	FGFR2-related craniosynostosis	GLikely benign
Select item 2961584	NM_000141.5(FGFR2):c.109+14T>C	FGFR2	Single nucleotide variant (intron variant)	FGFR2-related craniosynostosis	GLikely benign
Select item 2957683	NM_000141.5(FGFR2):c.2091C>T (p.Phe697=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	FGFR2-related craniosynostosis	GLikely benign
Select item 2917167	NM_000141.5(FGFR2):c.2350C>T (p.Pro784Ser)	FGFR2 (P667S +8 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis	GUncertain significance
Select item 2916218	NM_000141.5(FGFR2):c.696A>T (p.Val232=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	FGFR2-related craniosynostosis	GLikely benign
Select item 2905267	NM_000141.5(FGFR2):c.904G>A (p.Gly302Arg)	FGFR2 (G74R +3 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis	GUncertain significance
Select item 2901886	NM_000141.5(FGFR2):c.1961T>C (p.Ile654Thr)	FGFR2 (I537T +9 more)	Single nucleotide variant (missense variant +1 more)	FGFR2-related craniosynostosis	GUncertain significance
Select item 2897848	NM_000141.5(FGFR2):c.2205G>A (p.Met735Ile)	FGFR2 (M733I +9 more)	Single nucleotide variant (missense variant +1 more)	FGFR2-related craniosynostosis	GUncertain significance
Select item 2896926	NM_000141.5(FGFR2):c.2057+17T>A	FGFR2	Single nucleotide variant (intron variant)	FGFR2-related craniosynostosis	GLikely benign
Select item 2894826	NM_000141.5(FGFR2):c.1002T>C (p.Phe334=)	FGFR2	Single nucleotide variant (synonymous variant +2 more)	FGFR2-related craniosynostosis	GLikely benign
Select item 2892098	NM_000141.5(FGFR2):c.1179A>G (p.Val393=)	FGFR2	Single nucleotide variant (synonymous variant +2 more)	FGFR2-related craniosynostosis	GLikely benign
Select item 2891853	NM_000141.5(FGFR2):c.1029G>A (p.Leu343=)	FGFR2	Single nucleotide variant (synonymous variant +2 more)	FGFR2-related craniosynostosis	GUncertain significance
Select item 2886906	NM_000141.5(FGFR2):c.1085-15T>C	FGFR2	Single nucleotide variant (intron variant)	FGFR2-related craniosynostosis	GLikely benign
Select item 2885269	NM_000141.5(FGFR2):c.1802A>G (p.Lys601Arg)	FGFR2 (K373R +9 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2880061	NM_000141.5(FGFR2):c.1672+17dup	FGFR2	Duplication (intron variant)	FGFR2-related craniosynostosis	GBenign
Select item 2879360	NM_000141.5(FGFR2):c.1095A>G (p.Arg365=)	FGFR2	Single nucleotide variant (synonymous variant +2 more)	FGFR2-related craniosynostosis	GLikely benign
Select item 2868406	NM_000141.5(FGFR2):c.2302-15C>T	FGFR2	Single nucleotide variant (intron variant)	FGFR2-related craniosynostosis	GLikely benign
Select item 2852948	NM_000141.5(FGFR2):c.908C>G (p.Pro303Arg)	FGFR2 (P214R +3 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis	GUncertain significance
Select item 2849960	NM_000141.5(FGFR2):c.1058A>T (p.His353Leu)	FGFR2 (H353L +3 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis	GUncertain significance
Select item 2849050	NM_000141.5(FGFR2):c.2431C>A (p.Gln811Lys)	FGFR2 (Q811K +8 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis	GUncertain significance
Select item 2846424	NM_000141.5(FGFR2):c.1038T>C (p.Asn346=)	FGFR2	Single nucleotide variant (synonymous variant +2 more)	FGFR2-related craniosynostosis	GUncertain significance
Select item 2844464	NM_000141.5(FGFR2):c.1038T>G (p.Asn346Lys)	FGFR2 (N118K +3 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis	GUncertain significance
Select item 2843882	NM_000141.5(FGFR2):c.298A>G (p.Arg100Gly)	FGFR2 (R100G)	Single nucleotide variant (missense variant +1 more)	FGFR2-related craniosynostosis	GUncertain significance
Select item 2828898	NM_000141.5(FGFR2):c.840T>G (p.Val280=)	FGFR2	Single nucleotide variant (synonymous variant +2 more)	FGFR2-related craniosynostosis	GLikely benign
Select item 2823600	NM_000141.5(FGFR2):c.2196-11A>G	FGFR2	Single nucleotide variant (intron variant)	FGFR2-related craniosynostosis	GLikely benign
Select item 2822168	NM_000141.5(FGFR2):c.186C>T (p.Cys62=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	FGFR2-related craniosynostosis	GLikely benign
Select item 2817339	NM_000141.5(FGFR2):c.1085-8C>T	FGFR2	Single nucleotide variant (intron variant)	FGFR2-related craniosynostosis	GLikely benign
Select item 2807327	NM_000141.5(FGFR2):c.1693G>A (p.Glu565Lys)	FGFR2 (E453K +9 more)	Single nucleotide variant (missense variant +1 more)	FGFR2-related craniosynostosis	GLikely pathogenic
Select item 2805632	NM_000141.5(FGFR2):c.1863+13C>T	FGFR2	Single nucleotide variant (intron variant)	FGFR2-related craniosynostosis	GLikely benign
Select item 2801820	NM_000141.5(FGFR2):c.749-19dup	FGFR2	Duplication (intron variant)	FGFR2-related craniosynostosis	GLikely benign
Select item 2801281	NM_000141.5(FGFR2):c.138A>G (p.Gln46=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	FGFR2-related craniosynostosis	GLikely benign
Select item 2801080	NM_000141.5(FGFR2):c.1632C>G (p.His544Gln)	FGFR2 (H316Q +9 more)	Single nucleotide variant (missense variant +1 more)	FGFR2-related craniosynostosis	GUncertain significance
Select item 2800523	NM_000141.5(FGFR2):c.748+7T>C	FGFR2	Single nucleotide variant (intron variant)	FGFR2-related craniosynostosis	GLikely benign
Select item 2793454	NM_000141.5(FGFR2):c.168G>A (p.Glu56=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	FGFR2-related craniosynostosis	GLikely benign
Select item 2783780	NM_000141.5(FGFR2):c.1085-3T>C	FGFR2	Single nucleotide variant (intron variant)	FGFR2-related craniosynostosis	GUncertain significance
Select item 2781731	NM_000141.5(FGFR2):c.2196-19G>A	FGFR2	Single nucleotide variant (intron variant)	FGFR2-related craniosynostosis	GLikely benign
Select item 2780568	NM_000141.5(FGFR2):c.1042A>G (p.Ile348Val)	FGFR2 (I259V +3 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis	GUncertain significance
Select item 2780194	NM_000141.5(FGFR2):c.812GAG[1] (p.Gly272del)	FGFR2 (G157del +3 more)	Microsatellite (inframe_deletion +3 more)	FGFR2-related craniosynostosis	GLikely pathogenic
Select item 2778649	NM_000141.5(FGFR2):c.1242T>C (p.Ala414=)	FGFR2	Single nucleotide variant (synonymous variant +2 more)	FGFR2-related craniosynostosis	GLikely benign
Select item 2778477	NM_000141.5(FGFR2):c.96A>G (p.Thr32=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	FGFR2-related craniosynostosis	GLikely benign
Select item 2777342	NM_000141.5(FGFR2):c.945C>T (p.Ala315=)	FGFR2	Single nucleotide variant (synonymous variant +2 more)	FGFR2-related craniosynostosis	GLikely benign
Select item 2772519	NM_000141.5(FGFR2):c.1690G>C (p.Val564Leu)	FGFR2 (V447L +9 more)	Single nucleotide variant (missense variant +1 more)	FGFR2-related craniosynostosis	GUncertain significance
Select item 2768526	NM_000141.5(FGFR2):c.2196G>T (p.Leu732=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	FGFR2-related craniosynostosis	GUncertain significance
Select item 2768102	NM_000141.5(FGFR2):c.591G>A (p.Glu197=)	FGFR2	Single nucleotide variant (non-coding transcript variant +1 more)	FGFR2-related craniosynostosis	GLikely benign
Select item 2765919	NM_000141.5(FGFR2):c.185G>T (p.Cys62Phe)	FGFR2 (C62F)	Single nucleotide variant (missense variant +1 more)	FGFR2-related craniosynostosis	GLikely pathogenic
Select item 2759993	NM_000141.5(FGFR2):c.1695G>A (p.Glu565=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	FGFR2-related craniosynostosis	GLikely benign
Select item 2747251	NM_000141.5(FGFR2):c.299G>A (p.Arg100Lys)	FGFR2 (R100K)	Single nucleotide variant (missense variant +1 more)	FGFR2-related craniosynostosis	GUncertain significance
Select item 2745684	NM_000141.5(FGFR2):c.454+20C>T	FGFR2	Single nucleotide variant (intron variant)	FGFR2-related craniosynostosis	GLikely benign
Select item 2743403	NM_000141.5(FGFR2):c.949G>A (p.Val317Ile)	FGFR2 (V89I +3 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis	GUncertain significance
Select item 2742071	NM_000141.5(FGFR2):c.1180A>G (p.Thr394Ala)	FGFR2 (T395A +6 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis	GUncertain significance
Select item 2738839	NM_000141.5(FGFR2):c.583G>A (p.Gly195Arg)	FGFR2 (G106R +2 more)	Single nucleotide variant (missense variant +1 more)	FGFR2-related craniosynostosis	GUncertain significance
Select item 2735494	NM_000141.5(FGFR2):c.1083A>T (p.Pro361=)	FGFR2	Single nucleotide variant (synonymous variant +2 more)	FGFR2-related craniosynostosis	GPathogenic
Select item 2735493	NM_000141.5(FGFR2):c.1084G>T (p.Ala362Ser)	FGFR2 (A134S +3 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis	GPathogenic
Select item 2735492	NM_000141.5(FGFR2):c.1988G>A (p.Gly663Glu)	FGFR2 (G551E +9 more)	Single nucleotide variant (missense variant +1 more)	Pfeiffer syndrome +1 more	GPathogenic
Select item 2735491	NM_000141.5(FGFR2):c.2191G>A (p.Glu731Lys)	FGFR2 (E503K +9 more)	Single nucleotide variant (missense variant +1 more)	FGFR2-related craniosynostosis	GUncertain significance
Select item 2732934	NM_000141.5(FGFR2):c.94A>G (p.Thr32Ala)	FGFR2 (T32A)	Single nucleotide variant (missense variant +1 more)	FGFR2-related craniosynostosis	GUncertain significance
Select item 2730617	NM_000141.5(FGFR2):c.27C>T (p.Cys9=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	FGFR2-related craniosynostosis	GLikely benign
Select item 2728040	NM_000141.5(FGFR2):c.2251A>C (p.Lys751Gln)	FGFR2 (K634Q +9 more)	Single nucleotide variant (missense variant +1 more)	FGFR2-related craniosynostosis +1 more	GUncertain significance
Select item 2726714	NM_000141.5(FGFR2):c.1288-8G>A	FGFR2	Single nucleotide variant (intron variant)	FGFR2-related craniosynostosis	GLikely benign
Select item 2725947	NM_000141.5(FGFR2):c.1288-15G>A	FGFR2	Single nucleotide variant (intron variant)	FGFR2-related craniosynostosis	GLikely benign
Select item 2725055	NM_000141.5(FGFR2):c.2056G>A (p.Val686Ile)	FGFR2 (V687I +9 more)	Single nucleotide variant (missense variant +1 more)	FGFR2-related craniosynostosis	GUncertain significance
Select item 2721639	NM_000141.5(FGFR2):c.1986+8G>A	FGFR2	Single nucleotide variant (intron variant)	FGFR2-related craniosynostosis	GLikely benign
Select item 2717143	NM_000141.5(FGFR2):c.1716C>T (p.Leu572=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	FGFR2-related craniosynostosis	GLikely benign
Select item 2712352	NM_000141.5(FGFR2):c.2256G>A (p.Gln752=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	FGFR2-related craniosynostosis	GLikely benign
Select item 2707316	NM_000141.5(FGFR2):c.748+10C>T	FGFR2	Single nucleotide variant (intron variant)	FGFR2-related craniosynostosis	GLikely benign
Select item 2700214	NM_000141.5(FGFR2):c.1512C>G (p.Asp504Glu)	FGFR2 (D388E +9 more)	Single nucleotide variant (missense variant +1 more)	FGFR2-related craniosynostosis	GUncertain significance
Select item 2698801	NM_000141.5(FGFR2):c.2398C>T (p.Pro800Ser)	FGFR2 (P711S +8 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis	GUncertain significance
Select item 2694990	NM_000141.5(FGFR2):c.628C>T (p.Arg210Ter)	FGFR2 (R95* +2 more)	Single nucleotide variant (nonsense +1 more)	FGFR2-related craniosynostosis	GUncertain significance
Select item 2682300	NM_000141.5(FGFR2):c.202G>A (p.Ala68Thr)	FGFR2 (A68T)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2479385	NM_000141.5(FGFR2):c.1351C>G (p.Leu451Val)	FGFR2 (L223V +9 more)	Single nucleotide variant (missense variant +1 more)	FGFR2-related craniosynostosis +1 more	GUncertain significance
Select item 2422456	NC_000010.10:g.(?_123239371)_(124813281_?)del	ACADSB, ARMS2 +15 more	Deletion	FGFR2-related craniosynostosis	GUncertain significance
Select item 2203088	NM_000141.5(FGFR2):c.415G>A (p.Gly139Ser)	FGFR2 (G139S +1 more)	Single nucleotide variant (missense variant +1 more)	FGFR2-related craniosynostosis	GUncertain significance
Select item 2202644	NM_000141.5(FGFR2):c.1274G>A (p.Arg425Gln)	FGFR2 (R310Q +6 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis +1 more	GConflicting classifications of pathogenicity
Select item 2198048	NM_000141.5(FGFR2):c.376+20C>A	FGFR2	Single nucleotide variant (intron variant)	FGFR2-related craniosynostosis	GLikely benign
Select item 2196500	NM_000141.5(FGFR2):c.1748G>C (p.Gly583Ala)	FGFR2 (G468A +9 more)	Single nucleotide variant (missense variant +1 more)	FGFR2-related craniosynostosis	GUncertain significance
Select item 2194433	NM_000141.5(FGFR2):c.1561+14C>T	FGFR2	Single nucleotide variant (intron variant)	FGFR2-related craniosynostosis	GLikely benign
Select item 2194098	NM_000141.5(FGFR2):c.288C>T (p.Gly96=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	FGFR2-related craniosynostosis	GLikely benign
Select item 2188506	NM_000141.5(FGFR2):c.728C>T (p.Thr243Met)	FGFR2 (T154M +2 more)	Single nucleotide variant (missense variant +1 more)	FGFR2-related craniosynostosis	GUncertain significance
Select item 2186170	NM_000141.5(FGFR2):c.1120G>A (p.Asp374Asn)	FGFR2 (D146N +6 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis	GUncertain significance
Select item 2186086	NM_000141.5(FGFR2):c.455-9C>T	FGFR2	Single nucleotide variant (intron variant)	FGFR2-related craniosynostosis	GLikely benign
Select item 2183836	NM_000141.5(FGFR2):c.2016A>T (p.Pro672=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	FGFR2-related craniosynostosis	GLikely benign
Select item 2177594	NM_000141.5(FGFR2):c.1164C>T (p.Ile388=)	FGFR2	Single nucleotide variant (synonymous variant +2 more)	FGFR2-related craniosynostosis	GLikely benign
Select item 2177428	NM_000141.5(FGFR2):c.1023G>A (p.Thr341=)	FGFR2	Single nucleotide variant (synonymous variant +2 more)	FGFR2-related craniosynostosis	GLikely benign
Select item 2172927	NM_000141.5(FGFR2):c.544G>T (p.Gly182Trp)	FGFR2 (G182W +2 more)	Single nucleotide variant (missense variant +1 more)	FGFR2-related craniosynostosis +1 more	GUncertain significance
Select item 2163136	NM_000141.5(FGFR2):c.222G>A (p.Lys74=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	FGFR2-related craniosynostosis	GLikely benign
Select item 2162562	NM_000141.5(FGFR2):c.657A>G (p.Glu219=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	FGFR2-related craniosynostosis	GLikely benign
Select item 2148608	NM_000141.5(FGFR2):c.2223T>C (p.His741=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	FGFR2-related craniosynostosis	GLikely benign
Select item 2142842	NM_000141.5(FGFR2):c.1392C>T (p.Ser464=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	FGFR2-related craniosynostosis	GLikely benign
Select item 2136936	NM_000141.5(FGFR2):c.1084+1G>A	FGFR2	Single nucleotide variant (splice donor variant +1 more)	FGFR2-related craniosynostosis +1 more	GPathogenic

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