ClinVar for MedGen (Select 98473) - 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 (missense variant +1 more)	not provided +7 more	GUncertain significance
Select item 1646512	NM_023110.3(FGFR1):c.1285-15C>T	FGFR1	Single nucleotide variant (intron variant)	Hartsfield-Bixler-Demyer syndrome +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)	Hypogonadotropic hypogonadism 2 with or without anosmia +6 more	GLikely benign
Select item 1616507	NM_023110.3(FGFR1):c.2058C>T (p.Phe686=)	FGFR1	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +6 more	GLikely benign
Select item 1577769	NM_023110.3(FGFR1):c.1308C>T (p.Ser436=)	FGFR1	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +6 more	GBenign/Likely benign
Select item 1572201	NM_023110.3(FGFR1):c.1978-16C>T	FGFR1	Single nucleotide variant (intron variant)	Pfeiffer syndrome +7 more	GLikely benign
Select item 1542812	NM_023110.3(FGFR1):c.92-14C>T	FGFR1	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +6 more	GBenign/Likely benign
Select item 1533042	NM_023110.3(FGFR1):c.2186+19C>T	FGFR1	Single nucleotide variant (intron variant)	Hartsfield-Bixler-Demyer syndrome +7 more	GLikely benign
Select item 1509706	NM_023110.3(FGFR1):c.1186G>A (p.Val396Ile)	FGFR1 (V427I +5 more)	Single nucleotide variant (missense variant)	Pfeiffer syndrome +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)	not provided +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)	Hartsfield-Bixler-Demyer 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)	Pfeiffer syndrome +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)	Pfeiffer syndrome +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)	Pfeiffer syndrome +6 more	GUncertain significance
Select item 1405341	NM_023110.3(FGFR1):c.20T>G (p.Leu7Arg)	FGFR1 (L7R +1 more)	Single nucleotide variant (missense variant +1 more)	Pfeiffer syndrome +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 +7 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)	not provided +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)	Hypogonadotropic hypogonadism 2 with or without anosmia +6 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)	not provided +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)	Osteoglophonic dysplasia +7 more	GConflicting classifications of pathogenicity
Select item 1302903	NM_023110.3(FGFR1):c.2428C>T (p.His810Tyr)	FGFR1 (H717Y +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +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 1299623	NM_023110.3(FGFR1):c.1006G>A (p.Ala336Thr)	FGFR1 (A245T +5 more)	Single nucleotide variant (missense variant)	Trigonocephaly 1 +1 more	GUncertain significance
Select item 1224344	NM_023110.3(FGFR1):c.1139A>G (p.Tyr380Cys)	FGFR1 (Y289C +5 more)	Single nucleotide variant (missense variant)	Jackson-Weiss syndrome +7 more	GUncertain significance
Select item 1209349	NM_023110.3(FGFR1):c.1978-13G>A	FGFR1	Single nucleotide variant (intron variant)	Pfeiffer syndrome +7 more	GLikely benign
Select item 1198063	NM_023110.3(FGFR1):c.2049-13C>T	FGFR1	Single nucleotide variant (intron variant)	Jackson-Weiss syndrome +7 more	GLikely benign
Select item 1197448	NM_023110.3(FGFR1):c.448+1G>C	FGFR1	Single nucleotide variant (intron variant +1 more)	not provided +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)	Jackson-Weiss syndrome +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)	Pfeiffer syndrome +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)	Hypogonadotropic hypogonadism 2 with or without anosmia +6 more	GLikely benign
Select item 1092309	NM_023110.3(FGFR1):c.921T>C (p.Tyr307=)	FGFR1	Single nucleotide variant (synonymous variant)	Pfeiffer syndrome +6 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)	Pfeiffer syndrome +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)	Trigonocephaly 1 +6 more	GUncertain significance
Select item 1024176	NM_023110.3(FGFR1):c.422C>G (p.Thr141Arg)	FGFR1 (T133R +3 more)	Single nucleotide variant (missense variant)	Encephalocraniocutaneous lipomatosis +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)	Pfeiffer syndrome +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)	Hypogonadotropic hypogonadism 2 with or without anosmia +7 more	GUncertain significance
Select item 912101	NM_023110.3(FGFR1):c.861C>T (p.Ile287=)	FGFR1	Single nucleotide variant (synonymous variant)	Trigonocephaly 1 +4 more	GConflicting classifications of pathogenicity
Select item 912047	NM_023110.3(FGFR1):c.1553-13G>A	FGFR1	Single nucleotide variant (intron variant)	Trigonocephaly 1 +5 more	GBenign/Likely benign
Select item 911988	NM_023110.3(FGFR1):c.2272G>A (p.Val758Met)	FGFR1 (V758M +7 more)	Single nucleotide variant (missense variant)	Trigonocephaly 1 +5 more	GUncertain significance
Select item 911892	NM_023110.3(FGFR1):c.*231C>T	FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 911789	NM_023110.3(FGFR1):c.*928G>A	LOC102723716, FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 911717	NM_023110.3(FGFR1):c.*1055C>T	FGFR1, LOC102723716 (T770M +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 911588	NM_023110.3(FGFR1):c.*1723C>T	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant)	Trigonocephaly 1 +3 more	GUncertain significance
Select item 911406	NM_023110.3(FGFR1):c.-555G>A	FGFR1	Single nucleotide variant (5 prime UTR variant)	Trigonocephaly 1 +3 more	GUncertain significance
Select item 911274	NM_023110.2(FGFR1):c.-747C>G	FGFR1	Single nucleotide variant	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 911212	NM_023110.3(FGFR1):c.-552C>G	FGFR1	Single nucleotide variant (5 prime UTR variant)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 911211	NM_023110.3(FGFR1):c.-522G>T	FGFR1	Single nucleotide variant (5 prime UTR variant)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 911139	NM_023110.3(FGFR1):c.-320C>T	FGFR1	Single nucleotide variant (5 prime UTR variant)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 911063	NM_023110.3(FGFR1):c.-117C>G	FGFR1, LOC130000232	Single nucleotide variant (5 prime UTR variant)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 911062	NM_023110.3(FGFR1):c.-116C>T	FGFR1, LOC130000232	Single nucleotide variant (5 prime UTR variant)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 911004	NM_023110.3(FGFR1):c.274G>A (p.Val92Met)	FGFR1 (V125M +2 more)	Single nucleotide variant (missense variant +1 more)	Craniosynostosis syndrome +4 more	GConflicting classifications of pathogenicity
Select item 910877	NM_023110.3(FGFR1):c.1264C>G (p.Pro422Ala)	FGFR1 (P420A +5 more)	Single nucleotide variant (missense variant)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 910825	NM_023110.3(FGFR1):c.1713G>A (p.Glu571=)	FGFR1	Single nucleotide variant (synonymous variant)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 910660	NM_023110.3(FGFR1):c.*252G>A	FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	Trigonocephaly 1 +3 more	GUncertain significance
Select item 910659	NM_023110.3(FGFR1):c.*262C>T	FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 910547	NM_023110.3(FGFR1):c.*957C>T	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant +1 more)	Trigonocephaly 1 +3 more	GUncertain significance
Select item 910486	NM_023110.3(FGFR1):c.*1086A>T	FGFR1, LOC102723716 (K691N +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Trigonocephaly 1 +3 more	GUncertain significance
Select item 910485	NM_023110.3(FGFR1):c.*1124C>G	FGFR1, LOC102723716 (P704R +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Trigonocephaly 1 +3 more	GUncertain significance
Select item 910427	NM_023110.3(FGFR1):c.*1446A>C	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +4 more	GUncertain significance
Select item 910248	NM_023110.3(FGFR1):c.-278C>A	FGFR1, LOC130000233	Single nucleotide variant (5 prime UTR variant)	Trigonocephaly 1 +3 more	GUncertain significance
Select item 910181	NM_023110.3(FGFR1):c.68C>T (p.Pro23Leu)	FGFR1 (P56L +1 more)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +5 more	GConflicting classifications of pathogenicity
Select item 909924	NM_023110.3(FGFR1):c.2024G>C (p.Arg675Pro)	FGFR1 (R586P +7 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 909923	NM_023110.3(FGFR1):c.2187-14C>T	FGFR1	Single nucleotide variant (intron variant)	Trigonocephaly 1 +3 more	GUncertain significance
Select item 909875	NM_023110.3(FGFR1):c.2399C>T (p.Pro800Leu)	FGFR1 (P707L +6 more)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +4 more	GConflicting classifications of pathogenicity
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 909679	NM_023110.3(FGFR1):c.*802C>T	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 909678	NM_023110.3(FGFR1):c.*819T>G	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 909616	NM_023110.3(FGFR1):c.*991G>A	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +4 more	GUncertain significance
Select item 909558	NM_023110.3(FGFR1):c.*1149G>A	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 909426	NM_023110.3(FGFR1):c.*1823G>A	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 909349	NM_023110.3(FGFR1):c.*2408C>T	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 909278	NM_023110.3(FGFR1):c.-741A>G	FGFR1	Single nucleotide variant (5 prime UTR variant)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 909277	NM_023110.3(FGFR1):c.-717C>T	FGFR1	Single nucleotide variant (5 prime UTR variant)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 909211	NM_023110.3(FGFR1):c.-466C>T	FGFR1	Single nucleotide variant (5 prime UTR variant)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 909210	NM_023110.3(FGFR1):c.-444C>T	FGFR1	Single nucleotide variant (5 prime UTR variant)	Trigonocephaly 1 +3 more	GUncertain significance
Select item 909011	NM_023110.3(FGFR1):c.2451C>T (p.Gly817=)	FGFR1	Single nucleotide variant (synonymous variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +4 more	GConflicting classifications of pathogenicity
Select item 908949	NM_023110.3(FGFR1):c.*203G>A	FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	Osteoglophonic dysplasia +3 more	GUncertain significance
Select item 908948	NM_023110.3(FGFR1):c.*212G>A	FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +3 more	GUncertain significance
Select item 908882	NM_023110.3(FGFR1):c.*345T>A	FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 908881	NM_023110.3(FGFR1):c.*391C>T	FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 908760	NM_023110.3(FGFR1):c.*994T>C	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant +1 more)	Trigonocephaly 1 +4 more	GBenign
Select item 908639	NM_023110.3(FGFR1):c.*1676G>A	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 908638	NM_023110.3(FGFR1):c.*1711G>A	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 908569	NM_023110.3(FGFR1):c.*1982A>C	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant)	Craniosynostosis syndrome +3 more	GConflicting classifications of pathogenicity
Select item 908502	NM_023110.2(FGFR1):c.-849C>A	FGFR1	Single nucleotide variant	Osteoglophonic dysplasia +3 more	GUncertain significance
Select item 908501	NM_023110.2(FGFR1):c.-755C>G	FGFR1	Single nucleotide variant	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 908500	NM_023110.3(FGFR1):c.*2445A>G	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 908431	NM_023110.3(FGFR1):c.-578A>C	FGFR1	Single nucleotide variant (5 prime UTR variant)	Trigonocephaly 1 +4 more	GConflicting classifications of pathogenicity
Select item 908362	NM_023110.3(FGFR1):c.-434G>A	FGFR1	Single nucleotide variant (5 prime UTR variant)	Trigonocephaly 1 +3 more	GUncertain significance
Select item 908361	NM_023110.3(FGFR1):c.-413G>A	FGFR1	Single nucleotide variant (5 prime UTR variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +3 more	GUncertain significance

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