ClinVar for MedGen (Select 67390) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 607

<< First< Prev

Page of 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3075688	NM_000141.5(FGFR2):c.1124A>T (p.Tyr375Phe)	FGFR2 (Y147F +6 more)	Single nucleotide variant (missense variant +2 more)	Pfeiffer syndrome	GLikely pathogenic
Select item 3064462	NM_000141.5(FGFR2):c.2096T>C (p.Leu699Ser)	FGFR2 (L471S +9 more)	Single nucleotide variant (missense variant +1 more)	Pfeiffer syndrome	GLikely pathogenic
Select item 3064171	NM_000141.5(FGFR2):c.943G>A (p.Ala315Thr)	FGFR2 (A200T +3 more)	Single nucleotide variant (missense variant +2 more)	Pfeiffer syndrome	GLikely benign
Select item 2954562	NM_023110.3(FGFR1):c.42C>T (p.Val14=)	FGFR1	Single nucleotide variant (synonymous variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +2 more	GLikely benign
Select item 2954522	NM_023110.3(FGFR1):c.745+1G>T	FGFR1	Single nucleotide variant (splice donor variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely pathogenic
Select item 2954310	NM_023110.3(FGFR1):c.1978-17C>T	FGFR1	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely benign
Select item 2954023	NM_023110.3(FGFR1):c.2163G>A (p.Lys721=)	FGFR1	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +2 more	GLikely benign
Select item 2953971	NM_023110.3(FGFR1):c.622-9del	FGFR1	Deletion (intron variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely benign
Select item 2953541	NM_023110.3(FGFR1):c.1274G>A (p.Arg425Lys)	FGFR1 (R417K +5 more)	Single nucleotide variant (missense variant)	Pfeiffer syndrome +1 more	GUncertain significance
Select item 2953540	NM_023110.3(FGFR1):c.1443dup (p.Lys482fs)	FGFR1 (K480fs +7 more)	Duplication (frameshift variant)	Pfeiffer syndrome +1 more	GPathogenic
Select item 2953124	NM_023110.3(FGFR1):c.662T>A (p.Val221Glu)	FGFR1 (V219E +5 more)	Single nucleotide variant (missense variant)	Pfeiffer syndrome +1 more	GUncertain significance
Select item 2953080	NM_023110.3(FGFR1):c.1931T>G (p.Leu644Arg)	FGFR1 (L555R +7 more)	Single nucleotide variant (missense variant)	Pfeiffer syndrome +1 more	GUncertain significance
Select item 2953016	NM_023110.3(FGFR1):c.1081+9T>C	FGFR1	Single nucleotide variant (intron variant)	Pfeiffer syndrome +1 more	GLikely benign
Select item 2952541	NM_023110.3(FGFR1):c.532T>G (p.Cys178Gly)	FGFR1 (C170G +5 more)	Single nucleotide variant (missense variant)	Pfeiffer syndrome +1 more	GLikely pathogenic
Select item 2952412	NM_023110.3(FGFR1):c.937-17T>C	FGFR1	Single nucleotide variant (intron variant)	Pfeiffer syndrome +1 more	GLikely benign
Select item 2952329	NM_023110.3(FGFR1):c.2234C>T (p.Pro745Leu)	FGFR1 (P652L +7 more)	Single nucleotide variant (missense variant)	Pfeiffer syndrome +1 more	GLikely pathogenic
Select item 2951686	NM_023110.3(FGFR1):c.1854+7A>T	FGFR1	Single nucleotide variant (intron variant)	Pfeiffer syndrome +1 more	GUncertain significance
Select item 2951450	NM_023110.3(FGFR1):c.399C>A (p.Asp133Glu)	FGFR1 (D125E +3 more)	Single nucleotide variant (missense variant)	Pfeiffer syndrome +1 more	GUncertain significance
Select item 2950667	NM_023110.3(FGFR1):c.2251G>C (p.Val751Leu)	FGFR1 (V747L +7 more)	Single nucleotide variant (missense variant)	Pfeiffer syndrome +1 more	GUncertain significance
Select item 2950200	NM_023110.3(FGFR1):c.1285-8C>G	FGFR1	Single nucleotide variant (intron variant)	Pfeiffer syndrome +1 more	GLikely benign
Select item 2950138	NM_023110.3(FGFR1):c.1081+1G>A	FGFR1	Single nucleotide variant (splice donor variant)	Pfeiffer syndrome +1 more	GLikely pathogenic
Select item 2949952	NM_023110.3(FGFR1):c.279_292dup (p.Leu98fs)	FGFR1 (L90fs +2 more)	Duplication (frameshift variant +1 more)	Pfeiffer syndrome +1 more	GPathogenic
Select item 2949813	NM_023110.3(FGFR1):c.27C>T (p.Phe9=)	FGFR1	Single nucleotide variant (synonymous variant +1 more)	Pfeiffer syndrome +1 more	GLikely benign
Select item 2949811	NM_023110.3(FGFR1):c.823T>G (p.Phe275Val)	FGFR1 (F186V +5 more)	Single nucleotide variant (missense variant)	Pfeiffer syndrome +1 more	GUncertain significance
Select item 2949673	NM_023110.3(FGFR1):c.2089G>C (p.Gly697Arg)	FGFR1 (G606R +7 more)	Single nucleotide variant (missense variant)	Pfeiffer syndrome +1 more	GUncertain significance
Select item 2949531	NM_023110.3(FGFR1):c.335C>G (p.Thr112Ser)	FGFR1 (T104S +2 more)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GUncertain significance
Select item 2949499	NM_023110.3(FGFR1):c.1948del (p.His650fs)	FGFR1 (H557fs +7 more)	Deletion (frameshift variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GPathogenic
Select item 2949496	NM_023110.3(FGFR1):c.1946del (p.His649fs)	FGFR1 (H556fs +7 more)	Deletion (frameshift variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GPathogenic
Select item 2949104	NM_023110.3(FGFR1):c.262G>T (p.Val88Leu)	FGFR1 (V121L +2 more)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely benign
Select item 2948865	NM_023110.3(FGFR1):c.1864dup (p.Arg622fs)	FGFR1 (R620fs +7 more)	Duplication (frameshift variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GPathogenic
Select item 2948747	NM_023110.3(FGFR1):c.2187-4G>A	FGFR1	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +2 more	GLikely benign
Select item 2948731	NM_023110.3(FGFR1):c.316C>T (p.Pro106Ser)	FGFR1 (P139S +2 more)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GUncertain significance
Select item 2948116	NM_023110.3(FGFR1):c.1285-20G>A	FGFR1	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely benign
Select item 2948022	NM_023110.3(FGFR1):c.1855-2A>G	FGFR1	Single nucleotide variant (splice acceptor variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely pathogenic
Select item 2947806	NM_023110.3(FGFR1):c.1855-5C>T	FGFR1	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely benign
Select item 2947544	NM_023110.3(FGFR1):c.449-4dup	FGFR1	Duplication (intron variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GUncertain significance
Select item 2947520	NM_023110.3(FGFR1):c.33T>C (p.Ala11=)	FGFR1	Single nucleotide variant (synonymous variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely benign
Select item 2946420	NM_023110.3(FGFR1):c.1977+19G>A	FGFR1	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely benign
Select item 2945761	NM_023110.3(FGFR1):c.523A>G (p.Lys175Glu)	FGFR1 (K206E +5 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GUncertain significance
Select item 2945458	NM_023110.3(FGFR1):c.2425C>T (p.Arg809Ter)	FGFR1 (R799* +7 more)	Single nucleotide variant (nonsense +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GUncertain significance
Select item 2945425	NM_023110.3(FGFR1):c.64A>G (p.Arg22Gly)	FGFR1 (R55G +1 more)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GUncertain significance
Select item 2945040	NM_023110.3(FGFR1):c.359-5C>G	FGFR1	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely benign
Select item 2944899	NM_023110.3(FGFR1):c.658G>C (p.Val220Leu)	FGFR1 (V251L +5 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GUncertain significance
Select item 2944795	NM_023110.3(FGFR1):c.2302G>A (p.Asp768Asn)	FGFR1 (D675N +7 more)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GUncertain significance
Select item 2944628	NM_023110.3(FGFR1):c.621+14C>A	FGFR1	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely benign
Select item 2944430	NM_023110.3(FGFR1):c.1081+20_1081+22del	FGFR1	Microsatellite (intron variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely benign
Select item 2943353	NM_023110.3(FGFR1):c.1791_1820del (p.Lys598_Val607del)	FGFR1	Deletion (inframe_indel +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely pathogenic
Select item 2942768	NM_023110.3(FGFR1):c.2367C>T (p.Ser789=)	FGFR1	Single nucleotide variant (synonymous variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely benign
Select item 2942581	NM_023110.3(FGFR1):c.1854+17C>T	FGFR1	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely benign
Select item 2942307	NM_023110.3(FGFR1):c.1356T>C (p.Ser452=)	FGFR1	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely benign
Select item 2942043	NM_023110.3(FGFR1):c.1552+5G>A	FGFR1	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GUncertain significance
Select item 2941653	NM_023110.3(FGFR1):c.1376G>T (p.Gly459Val)	FGFR1 (G368V +7 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GUncertain significance
Select item 2941595	NM_023110.3(FGFR1):c.17G>C (p.Cys6Ser)	FGFR1 (C39S +1 more)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GUncertain significance
Select item 2941259	NM_023110.3(FGFR1):c.1431-19T>A	FGFR1	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely benign
Select item 2940947	NM_023110.3(FGFR1):c.2356T>G (p.Ser786Ala)	FGFR1 (S776A +7 more)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GUncertain significance
Select item 2940236	NM_023110.3(FGFR1):c.745+13del	FGFR1	Deletion (intron variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely benign
Select item 2938799	NM_023110.3(FGFR1):c.92-19G>C	FGFR1	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely benign
Select item 2938765	NM_023110.3(FGFR1):c.621+17G>A	FGFR1	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely benign
Select item 2938753	NM_023110.3(FGFR1):c.91+16G>C	FGFR1	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely benign
Select item 2938414	NM_023110.3(FGFR1):c.1759C>T (p.Pro587Ser)	FGFR1 (P587S +7 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GUncertain significance
Select item 2937899	NM_023110.3(FGFR1):c.338A>G (p.Tyr113Cys)	FGFR1 (Y113C +2 more)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GUncertain significance
Select item 2937777	NM_023110.3(FGFR1):c.404C>T (p.Ser135Phe)	FGFR1 (S168F +3 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GUncertain significance
Select item 2937627	NM_023110.3(FGFR1):c.147C>T (p.Asp49=)	FGFR1	Single nucleotide variant (intron variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GUncertain significance
Select item 2937509	NM_023110.3(FGFR1):c.2046T>C (p.Asp682=)	FGFR1	Single nucleotide variant (synonymous variant)	Pfeiffer syndrome +1 more	GLikely benign
Select item 2937465	NM_023110.3(FGFR1):c.1954G>A (p.Asp652Asn)	FGFR1 (D683N +7 more)	Single nucleotide variant (missense variant)	Pfeiffer syndrome +1 more	GUncertain significance
Select item 2937384	NM_023110.3(FGFR1):c.358+9C>A	FGFR1	Single nucleotide variant (intron variant)	Pfeiffer syndrome +1 more	GLikely benign
Select item 2937120	NM_023110.3(FGFR1):c.2259C>T (p.Asp753=)	FGFR1	Single nucleotide variant (synonymous variant)	Pfeiffer syndrome +1 more	GLikely benign
Select item 2936423	NM_023110.3(FGFR1):c.1845C>A (p.Ala615=)	FGFR1	Single nucleotide variant (synonymous variant)	Pfeiffer syndrome +1 more	GLikely benign
Select item 2936368	NM_023110.3(FGFR1):c.363T>A (p.Ala121=)	FGFR1	Single nucleotide variant (synonymous variant)	Pfeiffer syndrome +1 more	GLikely benign
Select item 2936103	NM_023110.3(FGFR1):c.937-11G>T	FGFR1	Single nucleotide variant (intron variant)	Pfeiffer syndrome +1 more	GLikely benign
Select item 2935892	NM_023110.3(FGFR1):c.2432C>G (p.Pro811Arg)	FGFR1 (P809R +7 more)	Single nucleotide variant (missense variant +1 more)	Pfeiffer syndrome +1 more	GUncertain significance
Select item 2935699	NM_023110.3(FGFR1):c.1203T>C (p.Ser401=)	FGFR1	Single nucleotide variant (synonymous variant)	Pfeiffer syndrome +1 more	GLikely benign
Select item 2935658	NM_023110.3(FGFR1):c.1062A>G (p.Ala354=)	FGFR1	Single nucleotide variant (synonymous variant)	Pfeiffer syndrome +1 more	GLikely benign
Select item 2935243	NM_023110.3(FGFR1):c.1977+12C>G	FGFR1	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely benign
Select item 2934748	NM_023110.3(FGFR1):c.330C>T (p.Asp110=)	FGFR1	Single nucleotide variant (synonymous variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely benign
Select item 2934558	NM_023110.3(FGFR1):c.1044A>C (p.Gly348=)	FGFR1	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely benign
Select item 2934506	NM_023110.3(FGFR1):c.2292+13G>A	FGFR1	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely benign
Select item 2934115	NM_023110.3(FGFR1):c.140C>T (p.Pro47Leu)	FGFR1 (P39L +2 more)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GUncertain significance
Select item 2933485	NM_023110.3(FGFR1):c.2348C>T (p.Thr783Ile)	FGFR1 (T690I +7 more)	Single nucleotide variant (missense variant +1 more)	FGFR1-related condition +2 more	GUncertain significance
Select item 2932765	NM_023110.3(FGFR1):c.182T>C (p.Val61Ala)	FGFR1 (V53A +2 more)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely benign
Select item 2932735	NM_023110.3(FGFR1):c.1509C>T (p.Asp503=)	FGFR1	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely benign
Select item 2932518	NM_023110.3(FGFR1):c.1731G>A (p.Arg577=)	FGFR1	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely benign
Select item 2932297	NM_023110.3(FGFR1):c.1977C>T (p.Asn659=)	FGFR1	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GUncertain significance
Select item 2932156	NM_023110.3(FGFR1):c.1494C>A (p.Ile498=)	FGFR1	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GUncertain significance
Select item 2932102	NM_023110.3(FGFR1):c.1096C>T (p.Pro366Ser)	FGFR1 (P364S +5 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely benign
Select item 2932035	NM_023110.3(FGFR1):c.746-14C>T	FGFR1	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely benign
Select item 2931330	NM_023110.3(FGFR1):c.1775A>G (p.Glu592Gly)	FGFR1 (E501G +7 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GUncertain significance
Select item 2930952	NM_023110.3(FGFR1):c.1082-20C>T	FGFR1	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely benign
Select item 2930861	NM_023110.3(FGFR1):c.621+18C>A	FGFR1	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely benign
Select item 2930776	NM_023110.3(FGFR1):c.1553-14C>T	FGFR1	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely benign
Select item 2930457	NM_023110.3(FGFR1):c.221C>T (p.Ala74Val)	FGFR1 (A74V +2 more)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GBenign
Select item 2930291	NM_023110.3(FGFR1):c.1617G>A (p.Gly539=)	FGFR1	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely benign
Select item 2930121	NM_023110.3(FGFR1):c.2086C>T (p.Leu696=)	FGFR1	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely benign
Select item 2929854	NM_023110.3(FGFR1):c.371C>T (p.Ser124Phe)	FGFR1 (S116F +3 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GUncertain significance
Select item 2929810	NM_023110.3(FGFR1):c.687C>T (p.Thr229=)	FGFR1	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely benign
Select item 2928594	NM_023110.3(FGFR1):c.2382C>T (p.Ser794=)	FGFR1	Single nucleotide variant (synonymous variant +1 more)	Pfeiffer syndrome +1 more	GLikely benign
Select item 2928441	NM_023110.3(FGFR1):c.82C>T (p.Pro28Ser)	FGFR1 (P28S +1 more)	Single nucleotide variant (missense variant +1 more)	Pfeiffer syndrome +1 more	GUncertain significance
Select item 2928173	NM_023110.3(FGFR1):c.1552+8A>G	FGFR1	Single nucleotide variant (intron variant)	Pfeiffer syndrome +1 more	GLikely benign
Select item 2927963	NM_023110.3(FGFR1):c.1081+8C>G	FGFR1	Single nucleotide variant (intron variant)	Pfeiffer syndrome +1 more	GLikely benign
Select item 2927948	NM_023110.3(FGFR1):c.1271G>A (p.Arg424His)	FGFR1 (R416H +5 more)	Single nucleotide variant (missense variant)	Pfeiffer syndrome +1 more	GUncertain significance

<< First< Prev

Page of 7