ClinVar for MedGen (Select 140807) - ClinVar

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Items: 86

	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 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)	Hartsfield-Bixler-Demyer 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 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)	Pfeiffer syndrome +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)	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)	Jackson-Weiss syndrome +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)	Pfeiffer syndrome +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 1030825	NM_023110.3(FGFR1):c.166C>T (p.Arg56Trp)	FGFR1 (R56W +2 more)	Single nucleotide variant (missense variant +1 more)	Encephalocraniocutaneous lipomatosis +1 more	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 931981	NM_023110.3(FGFR1):c.1671del (p.Leu557fs)	FGFR1 (L555fs +7 more)	Deletion (frameshift variant)	Encephalocraniocutaneous lipomatosis	GPathogenic
Select item 931702	NM_023110.3(FGFR1):c.1342C>T (p.Arg448Trp)	FGFR1 (R448W +7 more)	Single nucleotide variant (missense variant)	FGFR1-related disorder +7 more	GUncertain significance
Select item 931498	NM_023110.3(FGFR1):c.937-14G>A	FGFR1	Single nucleotide variant (intron variant)	Pfeiffer syndrome +2 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 811993	NM_023110.3(FGFR1):c.1694C>T (p.Ser565Phe)	FGFR1 (S472F +7 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +3 more	GUncertain significance
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 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)	Osteoglophonic dysplasia +6 more	GLikely benign
Select item 696666	NM_023110.3(FGFR1):c.2298C>T (p.Tyr766=)	FGFR1	Single nucleotide variant (synonymous variant +1 more)	not provided +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)	Pfeiffer syndrome +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 536194	NM_023110.3(FGFR1):c.2106C>T (p.Pro702=)	FGFR1	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +7 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 468285	NM_023110.3(FGFR1):c.1888C>T (p.Leu630=)	FGFR1	Single nucleotide variant (synonymous variant)	FGFR1-related disorder +8 more	GBenign/Likely benign
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	GConflicting classifications of pathogenicity
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 +8 more	GUncertain significance
Select item 390879	NM_023110.3(FGFR1):c.2331C>G (p.Ser777=)	FGFR1	Single nucleotide variant (synonymous variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +7 more	GLikely benign
Select item 375965	NM_033360.4(KRAS):c.351A>C (p.Lys117Asn)	KRAS (K117N)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 375962	NM_004985.5(KRAS):c.437C>T (p.Ala146Val)	KRAS (A146V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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)	not provided +8 more	GBenign
Select item 362893	NM_023110.3(FGFR1):c.2262G>A (p.Leu754=)	FGFR1	Single nucleotide variant (synonymous variant)	not provided +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 224897	NM_023110.3(FGFR1):c.1966A>G (p.Lys656Glu)	FGFR1 (K656E +7 more)	Single nucleotide variant (missense variant)	Medulloblastoma +7 more	GConflicting classifications of pathogenicity
Select item 224896	NM_023110.3(FGFR1):c.1638C>A (p.Asn546Lys)	FGFR1 (N546K +7 more)	Single nucleotide variant (missense variant)	Rosette-forming glioneuronal tumor +2 more	GPathogenic OOncogenic
Select item 217822	NM_004985.5(KRAS):c.57G>C (p.Leu19Phe)	KRAS (L19F)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic
Select item 197243	NM_004985.5(KRAS):c.436G>A (p.Ala146Thr)	KRAS (A146T)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 2 +3 more	GConflicting classifications of pathogenicity
Select item 196512	NM_023110.3(FGFR1):c.336C>T (p.Thr112=)	FGFR1	Single nucleotide variant (synonymous variant +1 more)	not provided +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 132645	NM_023110.3(FGFR1):c.443G>A (p.Arg148His)	FGFR1 (R148H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +7 more	GUncertain significance
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)	FGFR1-related disorder +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)	Jackson-Weiss syndrome +7 more	GPathogenic
Select item 12582	NM_004985.5(KRAS):c.35G>A (p.Gly12Asp)	KRAS (G12D)	Single nucleotide variant (missense variant)	Congenital Pulmonary Airway Malformations +6 more	GPathogenic/Likely pathogenic OOncogenic
Select item 12580	NM_004985.5(KRAS):c.38G>A (p.Gly13Asp)	KRAS (G13D)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +7 more	GConflicting classifications of pathogenicity OOncogenic

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Items: 86