ClinVar for MedGen (Select 335111) - ClinVar

Links from MedGen

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2637945	NM_023110.3(FGFR1):c.1663+2T>G	FGFR1	Single nucleotide variant (splice donor variant)	Hartsfield-Bixler-Demyer syndrome	GUncertain significance
Select item 2444412	NM_023110.3(FGFR1):c.1550A>C (p.Lys517Thr)	FGFR1 (K424T +7 more)	Single nucleotide variant (missense variant)	Hartsfield-Bixler-Demyer syndrome	GLikely pathogenic
Select item 1712486	NM_023110.3(FGFR1):c.1922A>G (p.Asp641Gly)	FGFR1 (D548G +7 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +2 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 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 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 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 1333806	NM_023110.3(FGFR1):c.391G>C (p.Asp131His)	FGFR1 (D123H +3 more)	Single nucleotide variant (missense variant)	Hartsfield-Bixler-Demyer syndrome	GUncertain significance
Select item 1333805	NM_023110.3(FGFR1):c.2044G>A (p.Asp682Asn)	FGFR1 (D589N +7 more)	Single nucleotide variant (missense variant)	Hartsfield-Bixler-Demyer syndrome	GLikely pathogenic
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 1300944	NM_023110.3(FGFR1):c.1865G>A (p.Arg622Gln)	FGFR1 (R529Q +7 more)	Single nucleotide variant (missense variant)	Pfeiffer syndrome +3 more	GConflicting classifications of pathogenicity
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 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 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 1030826	NM_023110.3(FGFR1):c.358+2T>C	FGFR1	Single nucleotide variant (intron variant +1 more)	Hartsfield-Bixler-Demyer 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 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 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 704238	NM_023110.3(FGFR1):c.1663+10G>A	FGFR1	Single nucleotide variant (intron variant)	Encephalocraniocutaneous lipomatosis +6 more	GLikely benign
Select item 701368	NM_023110.3(FGFR1):c.381TGA[5] (p.Asp133del)	FGFR1 (D166del +3 more)	Microsatellite (inframe_deletion)	Pfeiffer syndrome +6 more	GLikely benign
Select item 700044	NM_023110.3(FGFR1):c.2238C>T (p.Thr746=)	FGFR1	Single nucleotide variant (synonymous variant)	Pfeiffer syndrome +6 more	GLikely benign
Select item 699169	NM_023110.3(FGFR1):c.1185C>T (p.Ile395=)	FGFR1	Single nucleotide variant (synonymous variant)	Pfeiffer syndrome +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 632588	NM_023110.3(FGFR1):c.1881G>C (p.Arg627Ser)	FGFR1 (R538S +7 more)	Single nucleotide variant (missense variant)	Cerebellar vermis hypoplasia +2 more	GPathogenic/Likely 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 585294	NM_023110.3(FGFR1):c.1996T>C (p.Trp666Arg)	FGFR1 (W577R +7 more)	Single nucleotide variant (missense variant)	Hartsfield-Bixler-Demyer syndrome	GPathogenic
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 522603	NM_023110.3(FGFR1):c.304G>A (p.Val102Ile)	FGFR1 (V102I +2 more)	Single nucleotide variant (missense variant +1 more)	Trigonocephaly 1 +7 more	GBenign/Likely benign
Select item 522557	NM_023110.3(FGFR1):c.454G>A (p.Ala152Thr)	FGFR1 (A152T +5 more)	Single nucleotide variant (missense variant)	Hartsfield-Bixler-Demyer syndrome	GBenign
Select item 522553	NM_023110.3(FGFR1):c.1869C>G (p.Asp623Glu)	FGFR1 (D623E +7 more)	Single nucleotide variant (missense variant)	Hartsfield-Bixler-Demyer syndrome	GPathogenic
Select item 517666	NM_023110.3(FGFR1):c.1921G>A (p.Asp641Asn)	FGFR1 (D641N +7 more)	Single nucleotide variant (missense variant)	Hartsfield-Bixler-Demyer syndrome	GPathogenic
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 496784	NM_023110.3(FGFR1):c.1604T>A (p.Met535Lys)	FGFR1 (M535K +7 more)	Single nucleotide variant (missense variant)	Hartsfield-Bixler-Demyer syndrome	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 449023	NM_023110.3(FGFR1):c.1601TGA[1] (p.Met535del)	FGFR1 (M535del +7 more)	Microsatellite (inframe_deletion)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 445368	NM_023110.3(FGFR1):c.1424G>A (p.Arg475Gln)	FGFR1 (R475Q +7 more)	Single nucleotide variant (missense variant)	Osteoglophonic dysplasia +7 more	GUncertain significance
Select item 432990	NM_023110.3(FGFR1):c.1520G>A (p.Arg507His)	FGFR1 (R507H +7 more)	Single nucleotide variant (missense variant)	Pfeiffer syndrome +7 more	GUncertain significance
Select item 430508	NM_023110.3(FGFR1):c.83C>T (p.Pro28Leu)	FGFR1 (P28L +1 more)	Single nucleotide variant (missense variant +1 more)	Pfeiffer syndrome +7 more	GUncertain significance
Select item 426196	NM_023110.3(FGFR1):c.128T>G (p.Phe43Cys)	FGFR1 (F43C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +7 more	GUncertain significance
Select item 418207	NM_023110.3(FGFR1):c.1019C>T (p.Thr340Met)	FGFR1 (T340M +5 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 390879	NM_023110.3(FGFR1):c.2331C>G (p.Ser777=)	FGFR1	Single nucleotide variant (synonymous variant +1 more)	Trigonocephaly 1 +7 more	GLikely benign
Select item 362910	NM_023110.3(FGFR1):c.91+6G>T	FGFR1	Single nucleotide variant (intron variant)	Trigonocephaly 1 +4 more	GUncertain significance
Select item 362908	NM_023110.3(FGFR1):c.359-13C>G	FGFR1	Single nucleotide variant (intron variant)	Trigonocephaly 1 +8 more	GBenign/Likely benign
Select item 362901	NM_023110.3(FGFR1):c.600C>T (p.Asp200=)	FGFR1	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +8 more	GBenign
Select item 362893	NM_023110.3(FGFR1):c.2262G>A (p.Leu754=)	FGFR1	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +8 more	GBenign
Select item 362891	NM_023110.3(FGFR1):c.2465G>A (p.Arg822His)	FGFR1 (R822H +6 more)	Single nucleotide variant (missense variant +1 more)	Osteoglophonic dysplasia +8 more	GUncertain significance
Select item 235085	NM_023110.3(FGFR1):c.1454G>T (p.Gly485Val)	FGFR1 (G485V +7 more)	Single nucleotide variant (missense variant)	Hartsfield-Bixler-Demyer syndrome	GLikely pathogenic
Select item 223246	NM_023110.3(FGFR1):c.1884T>G (p.Asn628Lys)	FGFR1 (N539K +6 more)	Single nucleotide variant (missense variant)	Hartsfield-Bixler-Demyer syndrome	Gnot provided
Select item 223245	NM_023110.3(FGFR1):c.1880G>C (p.Arg627Thr)	FGFR1 (R538T +6 more)	Single nucleotide variant (missense variant)	Hartsfield-Bixler-Demyer syndrome	GConflicting classifications of pathogenicity
Select item 223244	NM_023110.3(FGFR1):c.1468G>C (p.Gly490Arg)	FGFR1 (G397R +6 more)	Single nucleotide variant (missense variant)	Hartsfield-Bixler-Demyer syndrome	GLikely pathogenic
Select item 223243	NM_023110.3(FGFR1):c.572T>C (p.Leu191Ser)	FGFR1 (L191S +5 more)	Single nucleotide variant (missense variant)	Hartsfield-Bixler-Demyer syndrome	Gnot provided
Select item 196512	NM_023110.3(FGFR1):c.336C>T (p.Thr112=)	FGFR1	Single nucleotide variant (synonymous variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +9 more	GBenign/Likely benign
Select item 180152	NM_023110.3(FGFR1):c.821A>G (p.Glu274Gly)	FGFR1 (E274G +5 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +8 more	GConflicting classifications of pathogenicity
Select item 132647	NM_023110.3(FGFR1):c.1460G>A (p.Gly487Asp)	FGFR1 (G487D +7 more)	Single nucleotide variant (missense variant)	Hartsfield-Bixler-Demyer syndrome	GPathogenic
Select item 132645	NM_023110.3(FGFR1):c.443G>A (p.Arg148His)	FGFR1 (R148H +2 more)	Single nucleotide variant (missense variant +1 more)	Trigonocephaly 1 +7 more	GUncertain significance
Select item 66080	NM_023110.3(FGFR1):c.1867G>T (p.Asp623Tyr)	FGFR1 (D530Y +6 more)	Single nucleotide variant (missense variant)	Hartsfield-Bixler-Demyer syndrome	GPathogenic
Select item 66079	NM_023110.3(FGFR1):c.494T>C (p.Leu165Ser)	FGFR1 (L165S +5 more)	Single nucleotide variant (missense variant)	Hartsfield-Bixler-Demyer syndrome	GPathogenic
Select item 66078	NM_023110.3(FGFR1):c.2174G>A (p.Cys725Tyr)	FGFR1 (C636Y +6 more)	Single nucleotide variant (missense variant)	Hartsfield-Bixler-Demyer syndrome	GPathogenic
Select item 16299	NM_023110.3(FGFR1):c.1097C>T (p.Pro366Leu)	FGFR1 (P366L +5 more)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 16289	NM_023110.3(FGFR1):c.899T>C (p.Ile300Thr)	FGFR1 (I300T +5 more)	Single nucleotide variant (missense variant)	Pfeiffer syndrome +9 more	GConflicting classifications of pathogenicity
Select item 16279	NM_023110.3(FGFR1):c.755C>G (p.Pro252Arg)	FGFR1 (P252R +5 more)	Single nucleotide variant (missense variant)	Pfeiffer syndrome +7 more	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 100