ClinVar for MedGen (Select 1162) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1673614	NM_000141.5(FGFR2):c.1987-20A>T	FGFR2	Single nucleotide variant (intron variant)	Jackson-Weiss syndrome +11 more	GLikely benign
Select item 1584653	NM_000141.5(FGFR2):c.1335G>T (p.Val445=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	Acrocephalosyndactyly type I +11 more	GLikely benign
Select item 1555692	NM_000141.5(FGFR2):c.454+15G>A	FGFR2	Single nucleotide variant (intron variant)	Acrocephalosyndactyly type I +11 more	GLikely benign
Select item 1525168	NM_000141.5(FGFR2):c.182G>A (p.Arg61His)	FGFR2 (R61H)	Single nucleotide variant (missense variant +1 more)	Beare-Stevenson cutis gyrata syndrome +11 more	GConflicting classifications of pathogenicity
Select item 1506367	NM_000141.5(FGFR2):c.1085C>T (p.Ala362Val)	FGFR2 (A134V +6 more)	Single nucleotide variant (missense variant +2 more)	Acrocephalosyndactyly type I +11 more	GUncertain significance
Select item 1482755	NM_000141.5(FGFR2):c.1328C>T (p.Pro443Leu)	FGFR2 (P328L +9 more)	Single nucleotide variant (missense variant +1 more)	Levy-Hollister syndrome +11 more	GUncertain significance
Select item 1464298	NM_000141.5(FGFR2):c.1240G>A (p.Ala414Thr)	FGFR2 (A302T +6 more)	Single nucleotide variant (missense variant +2 more)	Jackson-Weiss syndrome +11 more	GUncertain significance
Select item 1415015	NM_000141.5(FGFR2):c.2426T>C (p.Leu809Pro)	FGFR2 (L581P +8 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis +11 more	GConflicting classifications of pathogenicity
Select item 1412875	NM_000141.5(FGFR2):c.1985A>G (p.Asn662Ser)	FGFR2 (N546S +9 more)	Single nucleotide variant (missense variant +1 more)	Acrocephalosyndactyly type I +11 more	GUncertain significance
Select item 1373931	NM_000141.5(FGFR2):c.1238C>T (p.Pro413Leu)	FGFR2 (P298L +6 more)	Single nucleotide variant (missense variant +2 more)	Pfeiffer syndrome +11 more	GUncertain significance
Select item 1372714	NM_000141.5(FGFR2):c.877C>T (p.His293Tyr)	FGFR2 (H204Y +3 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis +11 more	GUncertain significance
Select item 1328666	NM_000141.5(FGFR2):c.1155C>G (p.Val385=)	FGFR2	Single nucleotide variant (synonymous variant +2 more)	Beare-Stevenson cutis gyrata syndrome +12 more	GLikely benign
Select item 1318925	NM_000141.5(FGFR2):c.1562-9_1562-7delinsAA	FGFR2	Indel (intron variant)	Beare-Stevenson cutis gyrata syndrome +11 more	GUncertain significance
Select item 1317030	NM_000141.5(FGFR2):c.2077A>G (p.Met693Val)	FGFR2 (M465V +9 more)	Single nucleotide variant (missense variant +1 more)	Beare-Stevenson cutis gyrata syndrome +11 more	GUncertain significance
Select item 1316322	NM_000141.5(FGFR2):c.781G>A (p.Gly261Arg)	FGFR2 (G146R +3 more)	Single nucleotide variant (missense variant +2 more)	Beare-Stevenson cutis gyrata syndrome +11 more	GUncertain significance
Select item 1316125	NM_000141.5(FGFR2):c.287G>A (p.Gly96Asp)	FGFR2 (G96D)	Single nucleotide variant (missense variant +1 more)	FGFR2-related craniosynostosis +12 more	GUncertain significance
Select item 1193382	NM_000141.5(FGFR2):c.362T>C (p.Met121Thr)	FGFR2 (M121T)	Single nucleotide variant (missense variant +1 more)	not provided +11 more	GUncertain significance
Select item 1091719	NM_000141.5(FGFR2):c.1746C>T (p.Pro582=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	FGFR2-related craniosynostosis +12 more	GLikely benign
Select item 1079179	NM_000141.5(FGFR2):c.1356T>A (p.Ser452=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	Acrocephalosyndactyly type I +11 more	GLikely benign
Select item 1062590	NM_000141.5(FGFR2):c.2444_2445del (p.Ile815fs)	FGFR2 (I587fs +8 more)	Deletion (frameshift variant +2 more)	Jackson-Weiss syndrome +11 more	GUncertain significance
Select item 1052478	NM_000141.5(FGFR2):c.1348C>T (p.Arg450Cys)	FGFR2 (R222C +9 more)	Single nucleotide variant (missense variant +1 more)	FGFR2-related craniosynostosis +12 more	GUncertain significance
Select item 1048584	NM_000141.5(FGFR2):c.811_812inv (p.Gly271Pro)	FGFR2 (G156P +3 more)	Inversion (missense variant +2 more)	Crouzon syndrome	GLikely pathogenic
Select item 1000825	NM_000141.5(FGFR2):c.788C>T (p.Pro263Leu)	FGFR2 (P148L +3 more)	Single nucleotide variant (missense variant +2 more)	Acrocephalosyndactyly type I +11 more	GUncertain significance
Select item 1000813	NM_000141.5(FGFR2):c.16C>T (p.Arg6Cys)	FGFR2 (R6C)	Single nucleotide variant (missense variant +1 more)	Acrocephalosyndactyly type I +12 more	GConflicting classifications of pathogenicity
Select item 981191	NM_000141.5(FGFR2):c.824_829dup (p.Phe276_Val277insGluPhe)	FGFR2	Duplication (inframe_indel +3 more)	Crouzon syndrome	GLikely pathogenic
Select item 964516	NM_000141.5(FGFR2):c.1561+6C>T	FGFR2	Single nucleotide variant (intron variant)	FGFR2-related craniosynostosis +11 more	GUncertain significance
Select item 880347	NM_000141.5(FGFR2):c.1562A>G (p.Asp521Gly)	FGFR2 (D293G +9 more)	Single nucleotide variant (missense variant +1 more)	Saethre-Chotzen 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)	Beare-Stevenson cutis gyrata 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)	Saethre-Chotzen syndrome +5 more	GUncertain significance
Select item 879946	NM_000141.5(FGFR2):c.-603C>T	FGFR2	Single nucleotide variant (5 prime UTR variant +1 more)	Beare-Stevenson cutis gyrata syndrome +4 more	GUncertain significance
Select item 879901	NM_000141.5(FGFR2):c.-237C>A	FGFR2	Single nucleotide variant (5 prime UTR variant +1 more)	Beare-Stevenson cutis gyrata 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)	Saethre-Chotzen 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)	Isolated coronal synostosis +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)	Beare-Stevenson cutis gyrata 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)	Beare-Stevenson cutis gyrata 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)	Beare-Stevenson cutis gyrata 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)	Isolated coronal synostosis +13 more	GUncertain significance
Select item 878653	NM_000141.5(FGFR2):c.1093A>C (p.Arg365=)	FGFR2	Single nucleotide variant (synonymous variant +2 more)	Craniosynostosis 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)	Craniosynostosis syndrome +4 more	GUncertain significance
Select item 878309	NM_000141.4(FGFR2):c.*1539C>A	FGFR2	Single nucleotide variant	Isolated coronal synostosis +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)	Isolated coronal synostosis +4 more	GUncertain significance
Select item 877914	NM_000141.5(FGFR2):c.-196G>A	FGFR2	Single nucleotide variant (5 prime UTR variant +1 more)	Craniosynostosis 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)	Beare-Stevenson cutis gyrata 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 +6 more	GConflicting classifications of pathogenicity
Select item 877715	NM_000141.5(FGFR2):c.625-8C>T	FGFR2	Single nucleotide variant (intron variant)	Beare-Stevenson cutis gyrata 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)	Beare-Stevenson cutis gyrata 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)	Beare-Stevenson cutis gyrata syndrome +4 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)	Beare-Stevenson cutis gyrata 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)	Craniosynostosis syndrome +6 more	GConflicting classifications of pathogenicity
Select item 767470	NM_000141.5(FGFR2):c.1545C>T (p.Ala515=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	Acrocephalosyndactyly type I +11 more	GLikely benign
Select item 767266	NM_000141.5(FGFR2):c.64C>T (p.Arg22Trp)	FGFR2 (R22W)	Single nucleotide variant (missense variant +1 more)	Acrocephalosyndactyly type I +11 more	GBenign/Likely benign
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 724975	NM_000141.5(FGFR2):c.1761C>T (p.Ser587=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	FGFR2-related craniosynostosis +12 more	GBenign/Likely benign
Select item 720445	NM_000141.5(FGFR2):c.2232C>T (p.Pro744=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	not provided +12 more	GBenign/Likely benign
Select item 707001	NM_000141.5(FGFR2):c.390C>G (p.Ser130=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	Beare-Stevenson cutis gyrata syndrome +11 more	GLikely benign
Select item 703147	NM_000141.5(FGFR2):c.1911C>T (p.Asn637=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	Beare-Stevenson cutis gyrata syndrome +13 more	GLikely benign
Select item 591392	NM_000141.5(FGFR2):c.1735C>T (p.Arg579Trp)	FGFR2 (R579W +9 more)	Single nucleotide variant (missense variant +1 more)	Beare-Stevenson cutis gyrata syndrome +10 more	GUncertain significance
Select item 577711	NM_000141.5(FGFR2):c.989G>A (p.Arg330Gln)	FGFR2 (R330Q +3 more)	Single nucleotide variant (missense variant +2 more)	Saethre-Chotzen syndrome +14 more	GConflicting classifications of pathogenicity
Select item 573667	NM_000141.5(FGFR2):c.812G>T (p.Gly271Val)	FGFR2 (G271V +3 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis +1 more	GPathogenic/Likely pathogenic
Select item 566306	NM_000141.5(FGFR2):c.910G>A (p.Asp304Asn)	FGFR2 (D304N +3 more)	Single nucleotide variant (missense variant +2 more)	Acrocephalosyndactyly type I +11 more	GUncertain significance
Select item 549484	NM_000141.5(FGFR2):c.755C>T (p.Ser252Leu)	FGFR2 (S252L +3 more)	Single nucleotide variant (missense variant +2 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 514591	NM_000141.5(FGFR2):c.1086G>A (p.Ala362=)	FGFR2	Single nucleotide variant (synonymous variant +2 more)	FGFR2-related disorder +13 more	GLikely benign
Select item 514067	NM_000141.5(FGFR2):c.2190C>T (p.Asn730=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	Craniosynostosis syndrome +7 more	GConflicting classifications of pathogenicity
Select item 511482	NM_000141.5(FGFR2):c.420G>A (p.Ala140=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	not provided +12 more	GLikely benign
Select item 497484	NM_000141.5(FGFR2):c.289G>A (p.Ala97Thr)	FGFR2 (A97T)	Single nucleotide variant (missense variant +1 more)	not provided +13 more	GConflicting classifications of pathogenicity
Select item 478046	NM_000141.5(FGFR2):c.1150G>A (p.Gly384Arg)	FGFR2 (G384R +6 more)	Single nucleotide variant (missense variant +2 more)	Acrocephalosyndactyly type I +11 more	GPathogenic
Select item 449024	NM_000141.5(FGFR2):c.314A>G (p.Tyr105Cys)	FGFR2 (Y105C)	Single nucleotide variant (missense variant +1 more)	not provided +12 more	GPathogenic/Likely pathogenic
Select item 419066	NM_001371623.1(TCOF1):c.3973dup (p.Glu1325fs)	TCOF1 (E1324fs +5 more)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 383647	NM_000141.5(FGFR2):c.1986+7C>T	FGFR2	Single nucleotide variant (intron variant)	FGFR2-related disorder +13 more	GBenign/Likely benign
Select item 374823	NM_000141.5(FGFR2):c.1694A>G (p.Glu565Gly)	FGFR2 (E565G +9 more)	Single nucleotide variant (missense variant +1 more)	FGFR2-related craniosynostosis +12 more	GPathogenic/Likely pathogenic
Select item 374821	NM_000141.5(FGFR2):c.1645A>C (p.Asn549His)	FGFR2 (N549H +9 more)	Single nucleotide variant (missense variant +1 more)	Crouzon syndrome	GLikely pathogenic
Select item 374820	NM_000141.5(FGFR2):c.1025G>C (p.Cys342Ser)	FGFR2 (C342S +3 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis +4 more	GPathogenic
Select item 374817	NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu)	FGFR2 (G338E +3 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis +11 more	GPathogenic/Likely pathogenic
Select item 374816	NM_000141.5(FGFR2):c.1012G>C (p.Gly338Arg)	FGFR2 (G338R +3 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis +1 more	GPathogenic
Select item 374815	NM_000141.5(FGFR2):c.1007A>G (p.Asp336Gly)	FGFR2 (D336G +3 more)	Single nucleotide variant (missense variant +2 more)	Crouzon syndrome	GPathogenic/Likely pathogenic
Select item 374813	NM_000141.5(FGFR2):c.923A>G (p.Tyr308Cys)	FGFR2 (Y308C +3 more)	Single nucleotide variant (missense variant +2 more)	Crouzon syndrome	GPathogenic
Select item 374812	NM_000141.5(FGFR2):c.869G>C (p.Trp290Ser)	FGFR2 (W290S +3 more)	Single nucleotide variant (missense variant +2 more)	Crouzon syndrome	GPathogenic
Select item 374811	NM_000141.5(FGFR2):c.842A>G (p.Tyr281Cys)	FGFR2 (Y281C +3 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis +3 more	GLikely pathogenic
Select item 374809	NM_000141.5(FGFR2):c.826T>G (p.Phe276Val)	FGFR2 (F276V +3 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis +2 more	GPathogenic/Likely pathogenic
Select item 374808	NM_000141.5(FGFR2):c.138A>C (p.Gln46His)	FGFR2 (Q46H)	Single nucleotide variant (missense variant +1 more)	FGFR2-related craniosynostosis +12 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)	Crouzon 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)	Saethre-Chotzen 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)	Saethre-Chotzen syndrome +5 more	GBenign
Select item 299023	NM_000141.5(FGFR2):c.-371C>T	FGFR2	Single nucleotide variant (5 prime UTR variant +1 more)	Saethre-Chotzen 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)	Beare-Stevenson cutis gyrata 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)	Craniosynostosis syndrome +4 more	GBenign
Select item 299020	NM_000141.5(FGFR2):c.-298_-297dup	FGFR2	Duplication (5 prime UTR variant +1 more)	Beare-Stevenson cutis gyrata 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)	Beare-Stevenson cutis gyrata 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)	Craniosynostosis 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)	Beare-Stevenson cutis gyrata syndrome +6 more	GBenign
Select item 299015	NM_000141.5(FGFR2):c.-135C>T	FGFR2	Single nucleotide variant (5 prime UTR variant +1 more)	Crouzon 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)	Isolated coronal synostosis +4 more	GUncertain significance

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