ClinVar for MedGen (Select 431600) - ClinVar

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Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 880347	NM_000141.5(FGFR2):c.1562A>G (p.Asp521Gly)	FGFR2 (D293G +9 more)	Single nucleotide variant (missense variant +1 more)	Craniosynostosis syndrome +5 more	GConflicting classifications of pathogenicity
Select item 880311	NM_000141.5(FGFR2):c.2045A>G (p.His682Arg)	FGFR2 (H594R +9 more)	Single nucleotide variant (missense variant +1 more)	Craniosynostosis syndrome +4 more	GUncertain significance
Select item 880262	NM_000141.5(FGFR2):c.*256G>A	FGFR2 (V702I)	Single nucleotide variant (3 prime UTR variant +2 more)	Craniosynostosis syndrome +4 more	GUncertain significance
Select item 879946	NM_000141.5(FGFR2):c.-603C>T	FGFR2	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated Coronal Synostosis +4 more	GUncertain significance
Select item 879901	NM_000141.5(FGFR2):c.-237C>A	FGFR2	Single nucleotide variant (5 prime UTR variant +1 more)	Saethre-Chotzen syndrome +4 more	GUncertain significance
Select item 879853	NM_000141.5(FGFR2):c.-173G>A	FGFR2	Single nucleotide variant (5 prime UTR variant +1 more)	Saethre-Chotzen syndrome +4 more	GUncertain significance
Select item 879767	NM_000141.5(FGFR2):c.33C>T (p.Val11=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	Craniosynostosis syndrome +5 more	GConflicting classifications of pathogenicity
Select item 879590	NM_000141.5(FGFR2):c.-590G>C	FGFR2	Single nucleotide variant (5 prime UTR variant +1 more)	Crouzon syndrome +4 more	GUncertain significance
Select item 879439	NM_000141.5(FGFR2):c.-61G>T	FGFR2	Single nucleotide variant (5 prime UTR variant +1 more)	Crouzon syndrome +5 more	GBenign/Likely benign
Select item 879382	NM_000141.5(FGFR2):c.91A>T (p.Thr31Ser)	FGFR2 (T31S)	Single nucleotide variant (missense variant +1 more)	Crouzon syndrome +4 more	GUncertain significance
Select item 879194	NM_000141.5(FGFR2):c.1485G>T (p.Val495=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	Crouzon syndrome +4 more	GUncertain significance
Select item 878994	NM_000141.5(FGFR2):c.*730G>C	FGFR2	Single nucleotide variant (3 prime UTR variant +1 more)	Crouzon syndrome +4 more	GUncertain significance
Select item 878945	NM_000141.5(FGFR2):c.*1240A>C	FGFR2	Single nucleotide variant (3 prime UTR variant +1 more)	Crouzon syndrome +4 more	GUncertain significance
Select item 878944	NM_000141.5(FGFR2):c.*1283C>G	FGFR2	Single nucleotide variant (3 prime UTR variant +1 more)	Crouzon syndrome +4 more	GUncertain significance
Select item 878757	NM_000141.5(FGFR2):c.454+14C>T	FGFR2	Single nucleotide variant (intron variant)	not provided +6 more	GBenign/Likely benign
Select item 878704	NM_000141.5(FGFR2):c.772C>T (p.Leu258Phe)	FGFR2 (L143F +3 more)	Single nucleotide variant (missense variant +2 more)	Crouzon syndrome +13 more	GUncertain significance
Select item 878653	NM_000141.5(FGFR2):c.1093A>C (p.Arg365=)	FGFR2	Single nucleotide variant (synonymous variant +2 more)	Crouzon syndrome +4 more	GUncertain significance
Select item 878403	NM_000141.5(FGFR2):c.*874A>G	FGFR2	Single nucleotide variant (3 prime UTR variant +1 more)	Crouzon syndrome +4 more	GUncertain significance
Select item 878309	NM_000141.4(FGFR2):c.*1539C>A	FGFR2	Single nucleotide variant	Saethre-Chotzen syndrome +4 more	GUncertain significance
Select item 877977	NM_000141.5(FGFR2):c.-17G>C	FGFR2	Single nucleotide variant (5 prime UTR variant +1 more)	Crouzon syndrome +12 more	GUncertain significance
Select item 877915	NM_000141.5(FGFR2):c.-206C>A	FGFR2	Single nucleotide variant (5 prime UTR variant +1 more)	Saethre-Chotzen syndrome +4 more	GUncertain significance
Select item 877914	NM_000141.5(FGFR2):c.-196G>A	FGFR2	Single nucleotide variant (5 prime UTR variant +1 more)	Saethre-Chotzen syndrome +4 more	GUncertain significance
Select item 877867	NM_000141.5(FGFR2):c.-108C>T	FGFR2	Single nucleotide variant (5 prime UTR variant +1 more)	Craniosynostosis syndrome +5 more	GUncertain significance
Select item 877763	NM_000141.5(FGFR2):c.201C>T (p.Ala67=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	Craniosynostosis syndrome +5 more	GConflicting classifications of pathogenicity
Select item 877715	NM_000141.5(FGFR2):c.625-8C>T	FGFR2	Single nucleotide variant (intron variant)	Craniosynostosis syndrome +4 more	GUncertain significance
Select item 877639	NM_000141.5(FGFR2):c.1167C>G (p.Ala389=)	FGFR2	Single nucleotide variant (synonymous variant +2 more)	Craniosynostosis syndrome +4 more	GUncertain significance
Select item 877638	NM_000141.5(FGFR2):c.1213A>G (p.Lys405Glu)	FGFR2 (K290E +6 more)	Single nucleotide variant (missense variant +2 more)	Craniosynostosis syndrome +12 more	GConflicting classifications of pathogenicity
Select item 877435	NM_000141.5(FGFR2):c.*463A>G	FGFR2	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +4 more	GUncertain significance
Select item 877152	NM_000141.5(FGFR2):c.-626C>A	FGFR2	Single nucleotide variant (5 prime UTR variant +1 more)	Crouzon syndrome +4 more	GConflicting classifications of pathogenicity
Select item 772255	NM_000141.5(FGFR2):c.780C>T (p.Ala260=)	FGFR2	Single nucleotide variant (synonymous variant +2 more)	FGFR2-related craniosynostosis +5 more	GConflicting classifications of pathogenicity
Select item 728535	NM_000141.5(FGFR2):c.714G>A (p.Gly238=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	Saethre-Chotzen syndrome +5 more	GConflicting classifications of pathogenicity
Select item 577711	NM_000141.5(FGFR2):c.989G>A (p.Arg330Gln)	FGFR2 (R330Q +3 more)	Single nucleotide variant (missense variant +2 more)	Craniosynostosis syndrome +16 more	GConflicting classifications of pathogenicity
Select item 514067	NM_000141.5(FGFR2):c.2190C>T (p.Asn730=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	FGFR2-related craniosynostosis +6 more	GConflicting classifications of pathogenicity
Select item 299026	NM_000141.5(FGFR2):c.-622G>A	FGFR2	Single nucleotide variant (5 prime UTR variant +1 more)	Saethre-Chotzen syndrome +4 more	GUncertain significance
Select item 299025	NM_000141.5(FGFR2):c.-535G>C	FGFR2	Single nucleotide variant (5 prime UTR variant +1 more)	Crouzon syndrome +4 more	GUncertain significance
Select item 299024	NM_000141.5(FGFR2):c.-458C>A	FGFR2	Single nucleotide variant (5 prime UTR variant +1 more)	Crouzon syndrome +5 more	GBenign
Select item 299023	NM_000141.5(FGFR2):c.-371C>T	FGFR2	Single nucleotide variant (5 prime UTR variant +1 more)	Crouzon syndrome +4 more	GUncertain significance
Select item 299022	NM_000141.5(FGFR2):c.-358C>T	FGFR2	Single nucleotide variant (5 prime UTR variant +1 more)	Crouzon syndrome +4 more	GBenign/Likely benign
Select item 299021	NM_000141.5(FGFR2):c.-318G>C	FGFR2	Single nucleotide variant (5 prime UTR variant +1 more)	Crouzon syndrome +4 more	GBenign
Select item 299020	NM_000141.5(FGFR2):c.-298_-297dup	FGFR2	Duplication (5 prime UTR variant +1 more)	Crouzon syndrome +8 more	GLikely benign
Select item 299019	NM_000141.5(FGFR2):c.-236G>A	FGFR2	Single nucleotide variant (5 prime UTR variant +1 more)	Crouzon syndrome +5 more	GBenign
Select item 299018	NM_000141.5(FGFR2):c.-236G>C	FGFR2	Single nucleotide variant (5 prime UTR variant +1 more)	Beare-Stevenson cutis gyrata syndrome +5 more	GBenign
Select item 299017	NM_000141.5(FGFR2):c.-165G>A	FGFR2	Single nucleotide variant (5 prime UTR variant +1 more)	Crouzon syndrome +4 more	GUncertain significance
Select item 299016	NM_000141.5(FGFR2):c.-157A>G	FGFR2	Single nucleotide variant (5 prime UTR variant +1 more)	Crouzon syndrome +6 more	GBenign
Select item 299015	NM_000141.5(FGFR2):c.-135C>T	FGFR2	Single nucleotide variant (5 prime UTR variant +1 more)	Beare-Stevenson cutis gyrata syndrome +4 more	GConflicting classifications of pathogenicity
Select item 299014	NM_000141.5(FGFR2):c.-129C>T	FGFR2	Single nucleotide variant (5 prime UTR variant +1 more)	Beare-Stevenson cutis gyrata syndrome +4 more	GUncertain significance
Select item 299013	NM_000141.5(FGFR2):c.-128G>A	FGFR2	Single nucleotide variant (5 prime UTR variant +1 more)	Beare-Stevenson cutis gyrata syndrome +4 more	GUncertain significance
Select item 299012	NM_000141.5(FGFR2):c.-74G>A	FGFR2	Single nucleotide variant (5 prime UTR variant +1 more)	Saethre-Chotzen syndrome +5 more	GBenign/Likely benign
Select item 299011	NM_000141.5(FGFR2):c.-46G>A	FGFR2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +5 more	GBenign/Likely benign
Select item 299010	NM_000141.5(FGFR2):c.110-22TC[3]	FGFR2	Microsatellite (intron variant)	Saethre-Chotzen syndrome +9 more	GConflicting classifications of pathogenicity
Select item 299009	NM_000141.5(FGFR2):c.204C>T (p.Ala68=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	Saethre-Chotzen syndrome +4 more	GUncertain significance
Select item 299008	NM_000141.5(FGFR2):c.351T>C (p.Thr117=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	Saethre-Chotzen syndrome +4 more	GUncertain significance
Select item 299007	NM_000141.5(FGFR2):c.625-10A>G	FGFR2	Single nucleotide variant (intron variant)	Saethre-Chotzen syndrome +6 more	GConflicting classifications of pathogenicity
Select item 299006	NM_000141.5(FGFR2):c.879C>T (p.His293=)	FGFR2	Single nucleotide variant (synonymous variant +2 more)	Saethre-Chotzen syndrome +5 more	GBenign/Likely benign
Select item 299005	NM_000141.5(FGFR2):c.1085-13A>T	FGFR2	Single nucleotide variant (intron variant)	Saethre-Chotzen syndrome +6 more	GBenign/Likely benign
Select item 299004	NM_000141.5(FGFR2):c.1179A>T (p.Val393=)	FGFR2	Single nucleotide variant (synonymous variant +2 more)	Saethre-Chotzen syndrome +4 more	GUncertain significance
Select item 299003	NM_000141.5(FGFR2):c.1239G>A (p.Pro413=)	FGFR2	Single nucleotide variant (synonymous variant +2 more)	Saethre-Chotzen syndrome +5 more	GConflicting classifications of pathogenicity
Select item 299002	NM_000141.5(FGFR2):c.1539C>A (p.Thr513=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	Saethre-Chotzen syndrome +4 more	GUncertain significance
Select item 299001	NM_000141.5(FGFR2):c.1548G>A (p.Val516=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	Saethre-Chotzen syndrome +6 more	GBenign/Likely benign
Select item 299000	NM_000141.5(FGFR2):c.1562-11A>G	FGFR2	Single nucleotide variant (intron variant)	Saethre-Chotzen syndrome +5 more	GConflicting classifications of pathogenicity
Select item 298999	NM_000141.5(FGFR2):c.1673-12C>T	FGFR2	Single nucleotide variant (intron variant)	Beare-Stevenson cutis gyrata syndrome +6 more	GBenign/Likely benign
Select item 298998	NM_000141.5(FGFR2):c.1774C>T (p.Arg592Cys)	FGFR2 (R592C +9 more)	Single nucleotide variant (missense variant +1 more)	Beare-Stevenson cutis gyrata syndrome +13 more	GConflicting classifications of pathogenicity
Select item 298997	NM_000141.5(FGFR2):c.2001C>G (p.Val667=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	Beare-Stevenson cutis gyrata syndrome +6 more	GBenign/Likely benign
Select item 298996	NM_000141.5(FGFR2):c.2415C>T (p.Tyr805=)	FGFR2	Single nucleotide variant (synonymous variant +2 more)	Beare-Stevenson cutis gyrata syndrome +6 more	GBenign/Likely benign
Select item 298995	NM_000141.5(FGFR2):c.2416G>A (p.Glu806Lys)	FGFR2 (E806K +8 more)	Single nucleotide variant (missense variant +2 more)	Beare-Stevenson cutis gyrata syndrome +6 more	GConflicting classifications of pathogenicity
Select item 298994	NM_000141.5(FGFR2):c.*111G>A	FGFR2	Single nucleotide variant (3 prime UTR variant +2 more)	Crouzon syndrome +5 more	GConflicting classifications of pathogenicity
Select item 298993	NM_000141.5(FGFR2):c.*184C>T	FGFR2	Single nucleotide variant (3 prime UTR variant +2 more)	Beare-Stevenson cutis gyrata syndrome +4 more	GBenign/Likely benign
Select item 298992	NM_000141.5(FGFR2):c.*197del	FGFR2 (K682fs)	Deletion (3 prime UTR variant +2 more)	Levy-Hollister syndrome +10 more	GConflicting classifications of pathogenicity
Select item 298991	NM_000141.5(FGFR2):c.*259C>T	FGFR2	Single nucleotide variant (3 prime UTR variant +2 more)	Beare-Stevenson cutis gyrata syndrome +6 more	GBenign
Select item 298990	NM_000141.5(FGFR2):c.*324A>G	FGFR2	Single nucleotide variant (3 prime UTR variant +1 more)	Beare-Stevenson cutis gyrata syndrome +5 more	GBenign/Likely benign
Select item 298989	NM_000141.5(FGFR2):c.*403A>G	FGFR2	Single nucleotide variant (3 prime UTR variant +1 more)	Beare-Stevenson cutis gyrata syndrome +5 more	GBenign/Likely benign
Select item 298988	NM_000141.5(FGFR2):c.*469G>A	FGFR2	Single nucleotide variant (3 prime UTR variant +1 more)	Crouzon syndrome +5 more	GBenign
Select item 298987	NM_000141.5(FGFR2):c.*497T>C	FGFR2	Single nucleotide variant (3 prime UTR variant +1 more)	Crouzon syndrome +4 more	GUncertain significance
Select item 298986	NM_000141.5(FGFR2):c.641_644del	FGFR2	Deletion (3 prime UTR variant +1 more)	Crouzon syndrome +8 more	GLikely benign
Select item 298985	NM_000141.5(FGFR2):c.*674G>T	FGFR2	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated Coronal Synostosis +5 more	GConflicting classifications of pathogenicity
Select item 298984	NM_000141.5(FGFR2):c.*736dup	FGFR2	Duplication (3 prime UTR variant +1 more)	Acrocephalosyndactyly type I +8 more	GUncertain significance
Select item 298983	NM_000141.5(FGFR2):c.*921G>A	FGFR2	Single nucleotide variant (3 prime UTR variant +1 more)	Saethre-Chotzen syndrome +4 more	GUncertain significance
Select item 298982	NM_000141.5(FGFR2):c.*1070T>C	FGFR2	Single nucleotide variant (3 prime UTR variant +1 more)	Saethre-Chotzen syndrome +4 more	GUncertain significance
Select item 298981	NM_000141.5(FGFR2):c.*1126T>C	FGFR2	Single nucleotide variant (3 prime UTR variant +1 more)	Saethre-Chotzen syndrome +4 more	GUncertain significance
Select item 298980	NM_000141.5(FGFR2):c.*1287A>C	FGFR2	Single nucleotide variant (3 prime UTR variant +1 more)	Beare-Stevenson cutis gyrata syndrome +4 more	GUncertain significance
Select item 298979	NM_000141.5(FGFR2):c.*1301C>T	FGFR2	Single nucleotide variant (3 prime UTR variant +1 more)	Crouzon syndrome +4 more	GBenign/Likely benign
Select item 298978	NM_000141.5(FGFR2):c.*1319A>G	FGFR2	Single nucleotide variant (3 prime UTR variant +1 more)	Saethre-Chotzen syndrome +4 more	GBenign/Likely benign
Select item 298977	NM_000141.5(FGFR2):c.*1369C>T	FGFR2	Single nucleotide variant (3 prime UTR variant +1 more)	Saethre-Chotzen syndrome +12 more	GUncertain significance
Select item 298976	NM_000141.5(FGFR2):c.*1402T>C	FGFR2	Single nucleotide variant (3 prime UTR variant +1 more)	Saethre-Chotzen syndrome +4 more	GUncertain significance
Select item 298975	NM_000141.5(FGFR2):c.*1489C>T	FGFR2	Single nucleotide variant (3 prime UTR variant +1 more)	Saethre-Chotzen syndrome +4 more	GUncertain significance
Select item 298974	NM_000141.5(FGFR2):c.1498_1502del	FGFR2	Deletion (3 prime UTR variant +1 more)	Crouzon syndrome +8 more	GLikely benign
Select item 284354	NM_000141.5(FGFR2):c.1539C>T (p.Thr513=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	Crouzon syndrome +7 more	GBenign/Likely benign
Select item 284342	NM_000141.5(FGFR2):c.1572A>G (p.Thr524=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	Crouzon syndrome +7 more	GBenign/Likely benign
Select item 255319	NM_000141.5(FGFR2):c.696A>G (p.Val232=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	Isolated Coronal Synostosis +7 more	GBenign
Select item 255317	NM_000141.5(FGFR2):c.2301+15C>T	FGFR2	Single nucleotide variant (intron variant)	Isolated Coronal Synostosis +7 more	GBenign
Select item 255316	NM_000141.5(FGFR2):c.1941C>T (p.Leu647=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	not specified +7 more	GBenign
Select item 255314	NM_000141.5(FGFR2):c.109+10T>G	FGFR2	Single nucleotide variant (intron variant)	not specified +7 more	GBenign/Likely benign
Select item 196218	NM_000141.5(FGFR2):c.159G>A (p.Ala53=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	FGFR2-related craniosynostosis +7 more	GBenign/Likely benign
Select item 196217	NM_000141.5(FGFR2):c.294G>A (p.Thr98=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	FGFR2-related craniosynostosis +7 more	GBenign/Likely benign
Select item 135547	NM_000141.5(FGFR2):c.939+11T>C	FGFR2	Single nucleotide variant (intron variant)	not provided +6 more	GBenign/Likely benign
Select item 134392	NM_000141.5(FGFR2):c.557T>C (p.Met186Thr)	FGFR2 (M186T +2 more)	Single nucleotide variant (missense variant +1 more)	FGFR2-related craniosynostosis +7 more	GBenign
Select item 134390	NM_000141.5(FGFR2):c.170C>T (p.Ser57Leu)	FGFR2 (S57L)	Single nucleotide variant (missense variant +1 more)	FGFR2-related craniosynostosis +7 more	GBenign/Likely benign
Select item 134388	NM_000141.5(FGFR2):c.23T>G (p.Ile8Ser)	FGFR2 (I8S)	Single nucleotide variant (missense variant +1 more)	Saethre-Chotzen syndrome +7 more	GConflicting classifications of pathogenicity
Select item 134386	NM_000141.5(FGFR2):c.17G>C (p.Arg6Pro)	FGFR2 (R6P)	Single nucleotide variant (missense variant +1 more)	Saethre-Chotzen syndrome +15 more	GBenign

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Items: 99