"FGFR3-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 995688	NM_000142.5(FGFR3):c.75G>A (p.Leu25=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	FGFR3-related disorder +1 more	GLikely benign
Select item 2153419	NM_000142.5(FGFR3):c.84G>A (p.Glu28=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	FGFR3-related disorder +1 more	GLikely benign
Select item 716579	NM_000142.5(FGFR3):c.154G>A (p.Gly52Ser)	FGFR3 (G52S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 718114	NM_000142.5(FGFR3):c.159C>T (p.Ser53=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2000392	NM_000142.5(FGFR3):c.160G>A (p.Gly54Arg)	FGFR3 (G54R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1187885	NM_000142.5(FGFR3):c.189G>A (p.Pro63=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2720256	NM_000142.5(FGFR3):c.192C>G (p.Pro64=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	FGFR3-related disorder +1 more	GLikely benign
Select item 546226	NM_000142.5(FGFR3):c.200G>A (p.Gly67Asp)	FGFR3 (G67D)	Single nucleotide variant (missense variant +1 more)	Achondroplasia +15 more	GConflicting classifications of pathogenicity
Select item 196219	NM_000142.5(FGFR3):c.252G>A (p.Ser84=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	FGFR3-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3045150	NM_000142.5(FGFR3):c.363C>T (p.Phe121=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	FGFR3-related disorder	GLikely benign
Select item 1680004	NM_000142.5(FGFR3):c.409G>A (p.Gly137Arg)	FGFR3 (G137R)	Single nucleotide variant (missense variant +1 more)	FGFR3-related disorder +1 more	GUncertain significance
Select item 1680012	NM_000142.5(FGFR3):c.473G>A (p.Arg158Gln)	FGFR3 (R158Q)	Single nucleotide variant (missense variant +1 more)	Achondroplasia +2 more	GConflicting classifications of pathogenicity
Select item 2631449	NM_000142.5(FGFR3):c.485A>T (p.Lys162Met)	FGFR3 (K162M)	Single nucleotide variant (missense variant +1 more)	FGFR3-related disorder	GUncertain significance
Select item 1680014	NM_000142.5(FGFR3):c.504C>T (p.Ala168=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	FGFR3-related disorder +1 more	GLikely benign
Select item 392720	NM_000142.5(FGFR3):c.573C>T (p.Asn191=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	FGFR3-related disorder +1 more	GLikely benign
Select item 2634818	NM_000142.5(FGFR3):c.599G>A (p.Arg200His)	FGFR3 (R200H)	Single nucleotide variant (missense variant +1 more)	FGFR3-related disorder	GUncertain significance
Select item 705613	NM_000142.5(FGFR3):c.615+6C>A	FGFR3	Single nucleotide variant (intron variant)	FGFR3-related disorder +1 more	GBenign/Likely benign
Select item 703082	NM_000142.5(FGFR3):c.660C>A (p.Pro220=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	FGFR3-related disorder +1 more	GLikely benign
Select item 759884	NM_000142.5(FGFR3):c.669C>T (p.Arg223=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1224471	NM_000142.5(FGFR3):c.685G>A (p.Val229Ile)	FGFR3 (V229I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 784797	NM_000142.5(FGFR3):c.713G>A (p.Arg238Gln)	FGFR3 (R238Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 3037592	NM_000142.5(FGFR3):c.720G>A (p.Thr240=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	FGFR3-related disorder	GLikely benign
Select item 16332	NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys)	FGFR3 (R248C)	Single nucleotide variant (missense variant +1 more)	FGFR3-related disorder +31 more	GPathogenic
Select item 16339	NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys)	FGFR3 (S249C)	Single nucleotide variant (missense variant +1 more)	not provided +17 more	GPathogenic OOncogenic
Select item 533893	NM_000142.5(FGFR3):c.749C>T (p.Pro250Leu)	FGFR3 (P250L)	Single nucleotide variant (missense variant +1 more)	FGFR3-related disorder +1 more	GUncertain significance
Select item 1174959	NM_000142.5(FGFR3):c.870C>T (p.His290=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 757508	NM_000142.5(FGFR3):c.879G>C (p.Val293=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1680041	NM_000142.5(FGFR3):c.903C>T (p.Asp301=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	FGFR3-related disorder +1 more	GLikely benign
Select item 1254762	NM_000142.5(FGFR3):c.921C>T (p.Thr307=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 3028974	NM_000142.5(FGFR3):c.930+9C>G	FGFR3	Single nucleotide variant (intron variant)	FGFR3-related disorder	GLikely benign
Select item 3045084	NM_000142.5(FGFR3):c.931-776C>T	FGFR3	Single nucleotide variant (synonymous variant +2 more)	FGFR3-related disorder	GLikely benign
Select item 3050339	NM_000142.5(FGFR3):c.931-710G>A	FGFR3	Single nucleotide variant (synonymous variant +2 more)	FGFR3-related disorder	GLikely benign
Select item 3032240	NM_000142.5(FGFR3):c.931-640G>A	FGFR3 (G357R)	Single nucleotide variant (missense variant +2 more)	FGFR3-related disorder	GUncertain significance
Select item 3047089	NM_000142.5(FGFR3):c.931-6_931-5del	FGFR3	Deletion (intron variant)	FGFR3-related disorder	GLikely benign
Select item 3036930	NM_000142.5(FGFR3):c.939C>T (p.Gly313=)	FGFR3	Single nucleotide variant (synonymous variant +2 more)	FGFR3-related disorder	GLikely benign
Select item 1680047	NM_000142.5(FGFR3):c.951C>T (p.Thr317=)	FGFR3	Single nucleotide variant (synonymous variant +2 more)	FGFR3-related disorder +1 more	GLikely benign
Select item 708186	NM_000142.5(FGFR3):c.963A>G (p.Leu321=)	FGFR3	Single nucleotide variant (synonymous variant +2 more)	FGFR3-related disorder +1 more	GLikely benign
Select item 447332	NM_000142.5(FGFR3):c.967G>A (p.Val323Ile)	FGFR3 (V323I)	Single nucleotide variant (missense variant +2 more)	FGFR3-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2629996	NM_000142.5(FGFR3):c.970C>T (p.Leu324Phe)	FGFR3 (L324F)	Single nucleotide variant (missense variant +2 more)	FGFR3-related disorder	GUncertain significance
Select item 1215889	NM_000142.5(FGFR3):c.985G>A (p.Val329Ile)	FGFR3 (V329I)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 595056	NM_000142.5(FGFR3):c.1002C>T (p.Ala334=)	FGFR3	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1680053	NM_000142.5(FGFR3):c.1068G>A (p.Val356=)	FGFR3	Single nucleotide variant (synonymous variant +2 more)	FGFR3-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3041186	NM_000142.5(FGFR3):c.1109G>T (p.Gly370Val)	FGFR3 (G370V +1 more)	Single nucleotide variant (missense variant +2 more)	FGFR3-related disorder	GUncertain significance
Select item 2633154	NM_000142.5(FGFR3):c.1115T>C (p.Val372Ala)	FGFR3 (V372A +1 more)	Single nucleotide variant (missense variant +2 more)	FGFR3-related disorder	GUncertain significance
Select item 16328	NM_000142.5(FGFR3):c.1138G>C (p.Gly380Arg)	FGFR3 (G380R +1 more)	Single nucleotide variant (missense variant +2 more)	FGFR3-related disorder +3 more	GPathogenic
Select item 722132	NM_000142.5(FGFR3):c.1146C>T (p.Gly382=)	FGFR3	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 1702413	NM_000142.5(FGFR3):c.1182G>T (p.Thr394=)	FGFR3	Single nucleotide variant (synonymous variant +2 more)	FGFR3-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3061579	NM_000142.5(FGFR3):c.1224C>T (p.Ser408=)	FGFR3	Single nucleotide variant (synonymous variant +2 more)	FGFR3-related disorder	GLikely benign
Select item 2144732	NM_000142.5(FGFR3):c.1254G>A (p.Pro418=)	FGFR3	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 465345	NM_000142.5(FGFR3):c.1267-8C>T	FGFR3	Single nucleotide variant (intron variant)	FGFR3-related disorder +1 more	GLikely benign
Select item 1680068	NM_000142.5(FGFR3):c.1287G>A (p.Ala429=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	FGFR3-related disorder +1 more	GBenign/Likely benign
Select item 705473	NM_000142.5(FGFR3):c.1320C>T (p.Ile440=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	FGFR3-related disorder +1 more	GLikely benign
Select item 3030030	NM_000142.5(FGFR3):c.1335A>G (p.Ser445=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	FGFR3-related disorder	GLikely benign
Select item 703083	NM_000142.5(FGFR3):c.1356C>A (p.Ala452=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	FGFR3-related disorder +1 more	GLikely benign
Select item 533896	NM_000142.5(FGFR3):c.1371C>T (p.Leu457=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	FGFR3-related disorder +1 more	GBenign/Likely benign
Select item 3048957	NM_000142.5(FGFR3):c.1413-7C>T	FGFR3	Single nucleotide variant (intron variant)	FGFR3-related disorder	GLikely benign
Select item 1680078	NM_000142.5(FGFR3):c.1449C>T (p.Phe483=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	FGFR3-related disorder +1 more	GBenign/Likely benign
Select item 767576	NM_000142.5(FGFR3):c.1476C>T (p.Ile492=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1680079	NM_000142.5(FGFR3):c.1498G>A (p.Ala500Thr)	FGFR3 (A388T +3 more)	Single nucleotide variant (missense variant +1 more)	FGFR3-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3030223	NM_000142.5(FGFR3):c.1534+10G>C	FGFR3	Single nucleotide variant (intron variant)	FGFR3-related disorder	GLikely benign
Select item 2501940	NM_000142.5(FGFR3):c.1546G>C (p.Asp516His)	FGFR3 (D404H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1678870	NM_000142.5(FGFR3):c.1560G>A (p.Ser520=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	FGFR3-related disorder +1 more	GLikely benign
Select item 16337	NM_000142.5(FGFR3):c.1620C>A (p.Asn540Lys)	FGFR3 (N540K +3 more)	Single nucleotide variant (missense variant +1 more)	FGFR3-related disorder +4 more	GPathogenic
Select item 376216	NM_000142.5(FGFR3):c.1657G>A (p.Val553Met)	FGFR3 (V553M +3 more)	Single nucleotide variant (missense variant +1 more)	FGFR3-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1204846	NM_000142.5(FGFR3):c.1674G>A (p.Ala558=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	FGFR3-related disorder +1 more	GLikely benign
Select item 1254285	NM_000142.5(FGFR3):c.1701G>C (p.Leu567=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 800262	NM_000142.5(FGFR3):c.1706C>T (p.Ala569Val)	FGFR3 (A457V +3 more)	Single nucleotide variant (missense variant +1 more)	FGFR3-related disorder +1 more	GLikely benign
Select item 444628	NM_000142.5(FGFR3):c.1752G>A (p.Pro584=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	FGFR3-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1941005	NM_000142.5(FGFR3):c.1860C>T (p.Ala620=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	FGFR3-related disorder +1 more	GLikely benign
Select item 16331	NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu)	FGFR3 (K650E +3 more)	Single nucleotide variant (missense variant +1 more)	Thanatophoric dysplasia, type 2 +4 more	GPathogenic
Select item 65855	NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr)	FGFR3 (K650T +3 more)	Single nucleotide variant (missense variant +1 more)	Crouzon syndrome-acanthosis nigricans syndrome +15 more	GPathogenic
Select item 1680112	NM_000142.5(FGFR3):c.1957A>G (p.Asn653Asp)	FGFR3 (N541D +3 more)	Single nucleotide variant (missense variant +1 more)	FGFR3-related disorder +1 more	GUncertain significance
Select item 1680114	NM_000142.5(FGFR3):c.1959+9G>A	FGFR3	Single nucleotide variant (intron variant)	FGFR3-related disorder +1 more	GLikely benign
Select item 1911047	NM_000142.5(FGFR3):c.2078C>T (p.Ser693Phe)	FGFR3 (S581F +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 515197	NM_000142.5(FGFR3):c.2088C>T (p.Pro696=)	FGFR3 (R674W)	Single nucleotide variant (synonymous variant +2 more)	FGFR3-related disorder +1 more	GBenign/Likely benign
Select item 3061051	NM_000142.5(FGFR3):c.2100G>A (p.Val700=)	FGFR3 (G678R)	Single nucleotide variant (synonymous variant +2 more)	FGFR3-related disorder	GUncertain significance
Select item 804802	NM_000142.5(FGFR3):c.2148C>T (p.Pro716=)	FGFR3 (R694C)	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 134408	NM_000142.5(FGFR3):c.2149G>A (p.Ala717Thr)	FGFR3 (A717T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 3044276	NM_000142.5(FGFR3):c.2163C>T (p.His721=)	FGFR3 (R699*)	Single nucleotide variant (synonymous variant +2 more)	FGFR3-related disorder	GLikely benign
Select item 1680131	NM_000142.5(FGFR3):c.2215C>G (p.Pro739Ala)	FGFR3 (A716G +4 more)	Single nucleotide variant (missense variant +1 more)	FGFR3-related disorder +1 more	GUncertain significance
Select item 1680132	NM_000142.5(FGFR3):c.2217C>G (p.Pro739=)	FGFR3 (H717D)	Single nucleotide variant (synonymous variant +2 more)	FGFR3-related disorder +1 more	GLikely benign
Select item 2628613	NM_000142.5(FGFR3):c.2295G>A (p.Ala765=)	FGFR3 (A743T)	Single nucleotide variant (synonymous variant +2 more)	FGFR3-related disorder	GUncertain significance
Select item 2636717	NM_000142.5(FGFR3):c.2394A>C (p.Pro798=)	FGFR3 (T776P)	Single nucleotide variant (synonymous variant +2 more)	FGFR3-related disorder	GUncertain significance
Select item 2630303	NM_000142.5(FGFR3):c.2409C>T (p.Gly803=)	FGFR3 (L781F)	Single nucleotide variant (synonymous variant +2 more)	FGFR3-related disorder	GUncertain significance
Select item 736486	NM_000142.5(FGFR3):c.2418G>A (p.Thr806=)	FGFR3 (V784M)	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 16336	NM_000142.5(FGFR3):c.2421A>T (p.Ter807Cys)	FGFR3 (K785*)	Single nucleotide variant (stop lost +2 more)	FGFR3-related disorder	GPathogenic
Select item 447331	NM_000142.5(FGFR3):c.*5C>G	FGFR3	Single nucleotide variant (3 prime UTR variant +2 more)	FGFR3-related disorder +2 more	GBenign/Likely benign
Select item 3040561	NM_000142.5(FGFR3):c.*14C>T	FGFR3	Single nucleotide variant (3 prime UTR variant +2 more)	FGFR3-related disorder	GLikely benign

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Items: 88