ClinVar for MedGen (Select 208653) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1684098	NM_023110.3(FGFR1):c.8G>A (p.Ser3Asn)	FGFR1 (S36N +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Pfeiffer syndrome +7 more	GUncertain significance
Select item 1673614	NM_000141.5(FGFR2):c.1987-20A>T	FGFR2	Single nucleotide variant (intron variant)	FGFR2-related craniosynostosis +11 more	GLikely benign
Select item 1646512	NM_023110.3(FGFR1):c.1285-15C>T	FGFR1	Single nucleotide variant (intron variant)	Trigonocephaly 1 +6 more	GBenign/Likely benign
Select item 1623893	NM_023110.3(FGFR1):c.2187-19C>T	FGFR1	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +6 more	GLikely benign
Select item 1623251	NM_023110.3(FGFR1):c.2271C>T (p.Ile757=)	FGFR1	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +6 more	GLikely benign
Select item 1622290	NM_023110.3(FGFR1):c.621+19G>A	FGFR1	Single nucleotide variant (intron variant)	Osteoglophonic dysplasia +6 more	GLikely benign
Select item 1616507	NM_023110.3(FGFR1):c.2058C>T (p.Phe686=)	FGFR1	Single nucleotide variant (synonymous variant)	Osteoglophonic dysplasia +6 more	GLikely benign
Select item 1584653	NM_000141.5(FGFR2):c.1335G>T (p.Val445=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	Bent bone dysplasia syndrome 1 +11 more	GLikely benign
Select item 1577769	NM_023110.3(FGFR1):c.1308C>T (p.Ser436=)	FGFR1	Single nucleotide variant (synonymous variant)	Encephalocraniocutaneous lipomatosis +6 more	GBenign/Likely benign
Select item 1572201	NM_023110.3(FGFR1):c.1978-16C>T	FGFR1	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +7 more	GLikely benign
Select item 1555692	NM_000141.5(FGFR2):c.454+15G>A	FGFR2	Single nucleotide variant (intron variant)	FGFR2-related craniosynostosis +11 more	GLikely benign
Select item 1542812	NM_023110.3(FGFR1):c.92-14C>T	FGFR1	Single nucleotide variant (intron variant)	Hartsfield-Bixler-Demyer syndrome +6 more	GBenign/Likely benign
Select item 1533042	NM_023110.3(FGFR1):c.2186+19C>T	FGFR1	Single nucleotide variant (intron variant)	Pfeiffer syndrome +6 more	GLikely benign
Select item 1525168	NM_000141.5(FGFR2):c.182G>A (p.Arg61His)	FGFR2 (R61H)	Single nucleotide variant (missense variant +1 more)	FGFR2-related craniosynostosis +11 more	GConflicting classifications of pathogenicity
Select item 1509706	NM_023110.3(FGFR1):c.1186G>A (p.Val396Ile)	FGFR1 (V427I +5 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +6 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)	FGFR2-related craniosynostosis +11 more	GUncertain significance
Select item 1496164	NM_023110.3(FGFR1):c.346G>A (p.Val116Ile)	FGFR1 (V108I +2 more)	Single nucleotide variant (missense variant +1 more)	Pfeiffer syndrome +7 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)	FGFR2-related craniosynostosis +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)	Bent bone dysplasia syndrome 1 +11 more	GUncertain significance
Select item 1429876	NM_023110.3(FGFR1):c.381T>G (p.Asp127Glu)	FGFR1 (D119E +3 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +6 more	GUncertain significance
Select item 1427070	NM_023110.3(FGFR1):c.566G>A (p.Arg189His)	FGFR1 (R181H +5 more)	Single nucleotide variant (missense variant)	Pfeiffer syndrome +6 more	GUncertain significance
Select item 1425265	NM_023110.3(FGFR1):c.1114C>T (p.Pro372Ser)	FGFR1 (P372S +5 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +6 more	GUncertain significance
Select item 1416425	NM_023110.3(FGFR1):c.173G>A (p.Arg58Gln)	FGFR1 (R58Q +2 more)	Single nucleotide variant (missense variant +1 more)	Osteoglophonic dysplasia +6 more	GUncertain significance
Select item 1416171	NM_023110.3(FGFR1):c.2267G>A (p.Arg756His)	FGFR1 (R663H +7 more)	Single nucleotide variant (missense variant)	Trigonocephaly 1 +6 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)	Bent bone dysplasia syndrome 1 +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)	Bent bone dysplasia syndrome 1 +11 more	GUncertain significance
Select item 1405341	NM_023110.3(FGFR1):c.20T>G (p.Leu7Arg)	FGFR1 (L7R +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +6 more	GUncertain significance
Select item 1385879	NM_023110.3(FGFR1):c.2200C>T (p.Arg734Trp)	FGFR1 (R643W +7 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +6 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)	Bent bone dysplasia syndrome 1 +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)	Bent bone dysplasia syndrome 1 +11 more	GUncertain significance
Select item 1349091	NM_023110.3(FGFR1):c.2251G>A (p.Val751Met)	FGFR1 (V658M +7 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +6 more	GUncertain significance
Select item 1347067	NM_023110.3(FGFR1):c.2370_2371del (p.Glu792fs)	FGFR1 (E782fs +6 more)	Deletion (frameshift variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +7 more	GUncertain significance
Select item 1344828	NM_023110.3(FGFR1):c.1711G>A (p.Glu571Lys)	FGFR1 (E478K +7 more)	Single nucleotide variant (missense variant)	Pfeiffer syndrome +6 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)	not provided +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)	not provided +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)	not provided +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 1312041	NM_023110.3(FGFR1):c.2323C>G (p.Gln775Glu)	FGFR1 (Q682E +6 more)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +7 more	GUncertain significance
Select item 1308343	NM_023110.3(FGFR1):c.1333C>T (p.Arg445Trp)	FGFR1 (R352W +7 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +8 more	GUncertain significance
Select item 1307808	NM_023110.3(FGFR1):c.442C>T (p.Arg148Cys)	FGFR1 (P148S +5 more)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 1304409	NM_023110.3(FGFR1):c.2426G>A (p.Arg809Gln)	FGFR1 (R716Q +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +7 more	GUncertain significance
Select item 1302903	NM_023110.3(FGFR1):c.2428C>T (p.His810Tyr)	FGFR1 (H717Y +6 more)	Single nucleotide variant (missense variant +1 more)	Pfeiffer syndrome +7 more	GConflicting classifications of pathogenicity
Select item 1302618	NM_023110.3(FGFR1):c.1727G>A (p.Arg576Gln)	FGFR1 (R483Q +7 more)	Single nucleotide variant (missense variant)	Encephalocraniocutaneous lipomatosis +7 more	GUncertain significance
Select item 1224344	NM_023110.3(FGFR1):c.1139A>G (p.Tyr380Cys)	FGFR1 (Y289C +5 more)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 1209349	NM_023110.3(FGFR1):c.1978-13G>A	FGFR1	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +7 more	GLikely benign
Select item 1198063	NM_023110.3(FGFR1):c.2049-13C>T	FGFR1	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +7 more	GLikely benign
Select item 1197448	NM_023110.3(FGFR1):c.448+1G>C	FGFR1	Single nucleotide variant (intron variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +7 more	GConflicting classifications of pathogenicity
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 1190350	NM_023110.3(FGFR1):c.1408C>T (p.Arg470Cys)	FGFR1 (R377C +7 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +7 more	GUncertain significance
Select item 1187468	NM_023110.3(FGFR1):c.1447C>T (p.Pro483Ser)	FGFR1 (P390S +7 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +7 more	GUncertain significance
Select item 1168531	NM_023110.3(FGFR1):c.1398C>T (p.Pro466=)	FGFR1	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +6 more	GBenign/Likely benign
Select item 1102953	NM_023110.3(FGFR1):c.456T>C (p.Ala152=)	FGFR1	Single nucleotide variant (synonymous variant)	Hartsfield-Bixler-Demyer syndrome +6 more	GLikely benign
Select item 1092309	NM_023110.3(FGFR1):c.921T>C (p.Tyr307=)	FGFR1	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +7 more	GLikely benign
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)	Bent bone dysplasia syndrome 1 +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)	Bent bone dysplasia syndrome 1 +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)	not provided +12 more	GUncertain significance
Select item 1044770	NM_023110.3(FGFR1):c.584A>G (p.Lys195Arg)	FGFR1 (K195R +5 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +6 more	GUncertain significance
Select item 1041985	NM_023110.3(FGFR1):c.1072G>A (p.Val358Ile)	FGFR1 (V350I +5 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +6 more	GUncertain significance
Select item 1036826	NM_023110.3(FGFR1):c.2350C>T (p.Arg784Trp)	FGFR1 (R691W +6 more)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +6 more	GUncertain significance
Select item 1030827	NM_023110.3(FGFR1):c.391G>A (p.Asp131Asn)	FGFR1 (D131N +3 more)	Single nucleotide variant (missense variant)	Jackson-Weiss syndrome	GUncertain significance
Select item 1024176	NM_023110.3(FGFR1):c.422C>G (p.Thr141Arg)	FGFR1 (T133R +3 more)	Single nucleotide variant (missense variant)	Jackson-Weiss syndrome +6 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)	FGFR2-related craniosynostosis +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)	FGFR2-related craniosynostosis +12 more	GConflicting classifications of pathogenicity
Select item 983019	NM_023110.3(FGFR1):c.1495G>A (p.Gly499Arg)	FGFR1 (G406R +7 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +6 more	GUncertain significance
Select item 964516	NM_000141.5(FGFR2):c.1561+6C>T	FGFR2	Single nucleotide variant (intron variant)	Familial scaphocephaly syndrome, McGillivray type +11 more	GUncertain significance
Select item 963764	NM_023110.3(FGFR1):c.231C>G (p.Asn77Lys)	FGFR1 (N110K +2 more)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +7 more	GUncertain significance
Select item 943633	NM_023110.3(FGFR1):c.332C>T (p.Thr111Ile)	FGFR1 (T144I +2 more)	Single nucleotide variant (missense variant +1 more)	Trigonocephaly 1 +6 more	GUncertain significance
Select item 931702	NM_023110.3(FGFR1):c.1342C>T (p.Arg448Trp)	FGFR1 (R448W +7 more)	Single nucleotide variant (missense variant)	Jackson-Weiss syndrome +7 more	GUncertain significance
Select item 909809	NM_023110.3(FGFR1):c.*112C>T	FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +7 more	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)	Familial scaphocephaly syndrome, McGillivray type +13 more	GUncertain significance
Select item 877977	NM_000141.5(FGFR2):c.-17G>C	FGFR2	Single nucleotide variant (5 prime UTR variant +1 more)	Familial scaphocephaly syndrome, McGillivray type +12 more	GUncertain significance
Select item 767470	NM_000141.5(FGFR2):c.1545C>T (p.Ala515=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	Pfeiffer syndrome +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)	FGFR2-related craniosynostosis +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)	FGFR2-related craniosynostosis +11 more	GBenign/Likely benign
Select item 720445	NM_000141.5(FGFR2):c.2232C>T (p.Pro744=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	Pfeiffer syndrome +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)	Gastric cancer +11 more	GLikely benign
Select item 704238	NM_023110.3(FGFR1):c.1663+10G>A	FGFR1	Single nucleotide variant (intron variant)	Pfeiffer syndrome +6 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 +13 more	GLikely benign
Select item 701368	NM_023110.3(FGFR1):c.381TGA[5] (p.Asp133del)	FGFR1 (D166del +3 more)	Microsatellite (inframe_deletion)	Hypogonadotropic hypogonadism 2 with or without anosmia +6 more	GLikely benign
Select item 700044	NM_023110.3(FGFR1):c.2238C>T (p.Thr746=)	FGFR1	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +6 more	GLikely benign
Select item 699169	NM_023110.3(FGFR1):c.1185C>T (p.Ile395=)	FGFR1	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +6 more	GLikely benign
Select item 698372	NM_023110.3(FGFR1):c.2424C>G (p.Pro808=)	FGFR1	Single nucleotide variant (synonymous variant +1 more)	Pfeiffer syndrome +6 more	GBenign/Likely benign
Select item 697943	NM_023110.3(FGFR1):c.621+7G>T	FGFR1	Single nucleotide variant (intron variant)	Pfeiffer syndrome +6 more	GLikely benign
Select item 696666	NM_023110.3(FGFR1):c.2298C>T (p.Tyr766=)	FGFR1	Single nucleotide variant (synonymous variant +1 more)	Pfeiffer syndrome +8 more	GLikely benign
Select item 689761	NM_023110.3(FGFR1):c.289G>T (p.Gly97Cys)	FGFR1 (G97C +2 more)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +6 more	GUncertain significance
Select item 654366	NM_023110.3(FGFR1):c.448+1G>A	FGFR1	Single nucleotide variant (intron variant +1 more)	Trigonocephaly 1 +6 more	GLikely pathogenic
Select item 591746	NM_023110.3(FGFR1):c.-88-3566dup	FGFR1 (A3fs)	Duplication (frameshift variant +1 more)	not specified +7 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)	Crouzon 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)	Crouzon 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 536194	NM_023110.3(FGFR1):c.2106C>T (p.Pro702=)	FGFR1	Single nucleotide variant (synonymous variant)	not provided +7 more	GLikely benign
Select item 514591	NM_000141.5(FGFR2):c.1086G>A (p.Ala362=)	FGFR2	Single nucleotide variant (synonymous variant +2 more)	FGFR2-related craniosynostosis +13 more	GLikely benign
Select item 511482	NM_000141.5(FGFR2):c.420G>A (p.Ala140=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	Beare-Stevenson cutis gyrata syndrome +12 more	GLikely benign
Select item 502125	NM_023110.3(FGFR1):c.214C>T (p.Gln72Ter)	FGFR1 (Q72* +2 more)	Single nucleotide variant (nonsense +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +7 more	GPathogenic/Likely pathogenic
Select item 497484	NM_000141.5(FGFR2):c.289G>A (p.Ala97Thr)	FGFR2 (A97T)	Single nucleotide variant (missense variant +1 more)	FGFR2-realated disorder +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)	FGFR2-related craniosynostosis +11 more	GPathogenic
Select item 468285	NM_023110.3(FGFR1):c.1888C>T (p.Leu630=)	FGFR1	Single nucleotide variant (synonymous variant)	FGFR1-related condition +8 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)	Crouzon syndrome +12 more	GPathogenic/Likely pathogenic

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