ClinVar for MedGen (Select 78545) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3015139	NM_000142.5(FGFR3):c.1537G>T (p.Asp513Tyr)	FGFR3 (D401Y +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1801340	NM_004465.2(FGF10):c.374C>A (p.Ala125Asp)	FGF10 (A125D)	Single nucleotide variant (missense variant)	Levy-Hollister syndrome +1 more	GLikely pathogenic
Select item 1710242	NM_000141.5(FGFR2):c.1600G>A (p.Glu534Lys)	FGFR2 (E306K +9 more)	Single nucleotide variant (missense variant +1 more)	Levy-Hollister syndrome	GLikely pathogenic
Select item 1691355	NM_000142.5(FGFR3):c.1718C>T (p.Pro573Leu)	FGFR3 (P461L +3 more)	Single nucleotide variant (missense variant +1 more)	Achondroplasia +14 more	GUncertain significance
Select item 1684285	NM_000142.5(FGFR3):c.184C>T (p.Pro62Ser)	FGFR3 (P62S)	Single nucleotide variant (missense variant +1 more)	FGFR3-related disorder +14 more	GUncertain significance
Select item 1680115	NM_000142.5(FGFR3):c.1959+15G>C	FGFR3	Single nucleotide variant (intron variant)	not provided +14 more	GBenign/Likely benign
Select item 1680111	NM_000142.5(FGFR3):c.1946A>G (p.Lys649Arg)	FGFR3 (K537R +3 more)	Single nucleotide variant (missense variant +1 more)	Achondroplasia +14 more	GUncertain significance
Select item 1680106	NM_000142.5(FGFR3):c.1827C>G (p.Ala609=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	Achondroplasia +15 more	GConflicting classifications of pathogenicity
Select item 1680065	NM_000142.5(FGFR3):c.1267G>C (p.Val423Leu)	FGFR3 (V311L +3 more)	Single nucleotide variant (missense variant +1 more)	Achondroplasia +15 more	GUncertain significance
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)	not provided +12 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 1322898	NM_004465.2(FGF10):c.190G>T (p.Gly64Ter)	FGF10 (G64*)	Single nucleotide variant (nonsense)	Levy-Hollister syndrome +1 more	GPathogenic
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)	Pfeiffer 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 1310646	NM_000142.5(FGFR3):c.1547A>G (p.Asp516Gly)	FGFR3 (D404G +3 more)	Single nucleotide variant (missense variant +1 more)	Crouzon syndrome-acanthosis nigricans syndrome +14 more	GUncertain significance
Select item 1309951	NM_000142.5(FGFR3):c.1255C>T (p.Leu419Phe)	FGFR3 (L419F +1 more)	Single nucleotide variant (missense variant +2 more)	Achondroplasia +14 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 +11 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 1064421	NC_000005.9:g.44300489_44312646del	FGF10	Deletion	Primary pulmonary hypoplasia +1 more	GPathogenic
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 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 964516	NM_000141.5(FGFR2):c.1561+6C>T	FGFR2	Single nucleotide variant (intron variant)	FGFR2-related craniosynostosis +11 more	GUncertain significance
Select item 930542	NM_004465.2(FGF10):c.116C>A (p.Ala39Asp)	FGF10 (A39D)	Single nucleotide variant (missense variant)	Levy-Hollister syndrome	GUncertain significance
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 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 810729	NM_000141.5(FGFR2):c.1544C>T (p.Ala515Val)	FGFR2 (A287V +9 more)	Single nucleotide variant (missense variant +1 more)	Levy-Hollister syndrome	GPathogenic
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)	Levy-Hollister syndrome +11 more	GBenign/Likely benign
Select item 724975	NM_000141.5(FGFR2):c.1761C>T (p.Ser587=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	Beare-Stevenson cutis gyrata syndrome +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)	FGFR2-related craniosynostosis +11 more	GLikely benign
Select item 703147	NM_000141.5(FGFR2):c.1911C>T (p.Asn637=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	FGFR2-related craniosynostosis +12 more	GLikely benign
Select item 651478	NM_000142.5(FGFR3):c.2413C>T (p.Arg805Trp)	FGFR3 (A782V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +15 more	GUncertain significance
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 585087	NM_000142.5(FGFR3):c.1331C>T (p.Ser444Phe)	FGFR3 (S444F +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 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 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 547379	NM_000141.5(FGFR2):c.2021C>T (p.Ala674Val)	FGFR2 (A674V +9 more)	Single nucleotide variant (missense variant +1 more)	Levy-Hollister syndrome	GLikely pathogenic
Select item 547378	NM_000141.5(FGFR2):c.1477G>T (p.Gly493Trp)	FGFR2 (G493W +9 more)	Single nucleotide variant (missense variant +1 more)	Levy-Hollister syndrome	GLikely pathogenic
Select item 547377	NM_004465.2(FGF10):c.550G>A (p.Gly184Arg)	FGF10 (G184R)	Single nucleotide variant (missense variant)	Levy-Hollister syndrome	GLikely pathogenic
Select item 547376	NM_004465.2(FGF10):c.541A>C (p.Asn181His)	FGF10 (N181H)	Single nucleotide variant (missense variant)	Levy-Hollister syndrome +1 more	GUncertain significance
Select item 547375	NM_004465.2(FGF10):c.401T>A (p.Met134Lys)	FGF10 (M134K)	Single nucleotide variant (missense variant)	Levy-Hollister syndrome	GLikely pathogenic
Select item 547374	NM_004465.2(FGF10):c.356del (p.Gly119fs)	FGF10 (G119fs)	Deletion (frameshift variant)	Levy-Hollister syndrome	GLikely pathogenic
Select item 547373	NM_004465.2(FGF10):c.256del (p.Thr86fs)	FGF10 (T86fs)	Deletion (frameshift variant)	Levy-Hollister syndrome	GLikely pathogenic
Select item 547372	NM_004465.2(FGF10):c.232del (p.Arg78fs)	FGF10 (R78fs)	Deletion (frameshift variant)	Levy-Hollister syndrome	GLikely pathogenic
Select item 547371	NM_004465.2(FGF10):c.1A>G (p.Met1Val)	FGF10 (M1V)	Single nucleotide variant (missense variant +1 more)	Levy-Hollister syndrome	GLikely pathogenic
Select item 546226	NM_000142.5(FGFR3):c.200G>A (p.Gly67Asp)	FGFR3 (G67D)	Single nucleotide variant (missense variant +1 more)	not provided +14 more	GConflicting classifications of pathogenicity
Select item 521225	NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser)	FGFR3 (N718S +3 more)	Single nucleotide variant (missense variant +2 more)	Achondroplasia +15 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)	Crouzon syndrome +12 more	GLikely benign
Select item 511482	NM_000141.5(FGFR2):c.420G>A (p.Ala140=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	Crouzon syndrome +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 465350	NM_000142.5(FGFR3):c.1993G>T (p.Ala665Ser)	FGFR3 (A667S +3 more)	Single nucleotide variant (missense variant +2 more)	Achondroplasia +14 more	GUncertain significance
Select item 465349	NM_000142.5(FGFR3):c.1960-7C>T	FGFR3	Single nucleotide variant (intron variant)	Achondroplasia +14 more	GBenign/Likely benign
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 441276	NM_000142.4(FGFR3):c.[1130T>G;1138G>A]	FGFR3 (G380R +3 more)	Single nucleotide variant (missense variant +2 more)	Achondroplasia	GPathogenic
Select item 383647	NM_000141.5(FGFR2):c.1986+7C>T	FGFR2	Single nucleotide variant (intron variant)	Levy-Hollister syndrome +12 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)	Acrocephalosyndactyly type I +12 more	GPathogenic/Likely pathogenic
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 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 369476	NM_004465.1(FGF10):c.*5A>T	FGF10	Single nucleotide variant (genic downstream transcript variant)	Levy-Hollister syndrome +2 more	GBenign/Likely benign
Select item 353721	NM_004465.2(FGF10):c.624A>G (p.Ser208=)	FGF10	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 299020	NM_000141.5(FGFR2):c.-298_-297dup	FGFR2	Duplication (5 prime UTR variant +1 more)	Levy-Hollister syndrome +8 more	GLikely benign
Select item 299010	NM_000141.5(FGFR2):c.110-22TC[3]	FGFR2	Microsatellite (intron variant)	Beare-Stevenson cutis gyrata syndrome +9 more	GConflicting classifications of pathogenicity
Select item 298992	NM_000141.5(FGFR2):c.*197del	FGFR2 (K682fs)	Deletion (3 prime UTR variant +2 more)	Isolated coronal synostosis +10 more	GConflicting classifications of pathogenicity
Select item 298986	NM_000141.5(FGFR2):c.641_644del	FGFR2	Deletion (3 prime UTR variant +1 more)	Jackson-Weiss syndrome +8 more	GLikely benign
Select item 298984	NM_000141.5(FGFR2):c.*736dup	FGFR2	Duplication (3 prime UTR variant +1 more)	Craniosynostosis syndrome +8 more	GUncertain significance
Select item 298977	NM_000141.5(FGFR2):c.*1369C>T	FGFR2	Single nucleotide variant (3 prime UTR variant +1 more)	Acrocephalosyndactyly type I +12 more	GUncertain significance
Select item 298974	NM_000141.5(FGFR2):c.1498_1502del	FGFR2	Deletion (3 prime UTR variant +1 more)	Jackson-Weiss syndrome +8 more	GLikely benign
Select item 288912	NM_004465.2(FGF10):c.620A>C (p.His207Pro)	FGF10 (H207P)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 196220	NM_000142.5(FGFR3):c.348C>T (p.Arg116=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	Achondroplasia +16 more	GBenign/Likely benign
Select item 135548	NM_000141.5(FGFR2):c.748+18C>T	FGFR2	Single nucleotide variant (intron variant)	FGFR2-related craniosynostosis +11 more	GLikely benign
Select item 134404	NM_000142.5(FGFR3):c.1150T>C (p.Phe384Leu)	FGFR3 (F384L +1 more)	Single nucleotide variant (missense variant +2 more)	Achondroplasia +16 more	GBenign/Likely benign
Select item 134386	NM_000141.5(FGFR2):c.17G>C (p.Arg6Pro)	FGFR2 (R6P)	Single nucleotide variant (missense variant +1 more)	not provided +15 more	GBenign
Select item 132959	NM_000142.5(FGFR3):c.1935C>T (p.Leu645=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	Achondroplasia +14 more	GBenign/Likely benign
Select item 65855	NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr)	FGFR3 (K650T +3 more)	Single nucleotide variant (missense variant +1 more)	FGFR3-related disorder +16 more	GPathogenic
Select item 65562	NM_000142.5(FGFR3):c.2420G>T (p.Ter807Leu)	FGFR3	Single nucleotide variant (stop lost +2 more)	Achondroplasia +14 more	GPathogenic
Select item 16358	NM_000142.5(FGFR3):c.251C>T (p.Ser84Leu)	FGFR3 (S84L)	Single nucleotide variant (missense variant +1 more)	Achondroplasia +9 more	GPathogenic/Likely pathogenic
Select item 16354	NM_000142.5(FGFR3):c.1537G>A (p.Asp513Asn)	FGFR3 (D513N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 16347	NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn)	FGFR3 (K650N +3 more)	Single nucleotide variant (missense variant +1 more)	Hypochondroplasia +14 more	GPathogenic/Likely pathogenic
Select item 16341	NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met)	FGFR3 (K650M +3 more)	Single nucleotide variant (missense variant +1 more)	Hypochondroplasia +14 more	GPathogenic
Select item 16340	NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)	FGFR3 (P250R)	Single nucleotide variant (missense variant +1 more)	Craniosynostosis syndrome +26 more	GPathogenic/Likely pathogenic
Select item 16339	NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys)	FGFR3 (S249C)	Single nucleotide variant (missense variant +1 more)	Cervical cancer +17 more	GPathogenic OOncogenic
Select item 16338	NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys)	FGFR3 (N540K +3 more)	Single nucleotide variant (missense variant +1 more)	Short stature +18 more	GPathogenic/Likely pathogenic
Select item 16335	NM_000142.5(FGFR3):c.2419T>A (p.Ter807Arg)	FGFR3 (V784E)	Single nucleotide variant (stop lost +2 more)	Achondroplasia +14 more	GPathogenic

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