"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "FGFR3"[gen - ClinVar

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Items: 41

	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 condition +1 more	GLikely benign
Select item 2672985	NM_000142.5(FGFR3):c.82G>A (p.Glu28Lys)	FGFR3 (E28K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 465351	NM_000142.5(FGFR3):c.201T>C (p.Gly67=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 196219	NM_000142.5(FGFR3):c.252G>A (p.Ser84=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	FGFR3-related condition +1 more	GConflicting classifications of pathogenicity
Select item 211004	NM_000142.5(FGFR3):c.393G>A (p.Ser131=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	Connective tissue disorder +2 more	GBenign/Likely benign
Select item 624039	NM_000142.5(FGFR3):c.446-8G>T	FGFR3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 198044	NM_000142.5(FGFR3):c.678C>T (p.Tyr226=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2654577	NM_000142.5(FGFR3):c.687C>T (p.Val229=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not provided	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 chondrodysplasia +32 more	GPathogenic
Select item 16340	NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)	FGFR3 (P250R)	Single nucleotide variant (missense variant +1 more)	FGFR3-related chondrodysplasia +25 more	GPathogenic/Likely pathogenic
Select item 493389	NM_000142.5(FGFR3):c.792G>A (p.Thr264=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 444627	NM_000142.5(FGFR3):c.931-640G>C	FGFR3 (G357R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 546956	NM_000142.5(FGFR3):c.931-634C>T	FGFR3 (R359*)	Single nucleotide variant (nonsense +2 more)	not provided	GUncertain significance
Select item 1680050	NM_000142.5(FGFR3):c.984C>T (p.Asn328=)	FGFR3	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 255321	NM_000142.5(FGFR3):c.1014C>T (p.Thr338=)	FGFR3	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GBenign/Likely benign
Select item 718133	NM_000142.5(FGFR3):c.1023G>A (p.Ala341=)	FGFR3	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GBenign/Likely benign
Select item 16342	NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys)	FGFR3 (Y373C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 16327	NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg)	FGFR3 (G380R +1 more)	Single nucleotide variant (missense variant +2 more)	FGFR3-Related Disorders +18 more	GPathogenic
Select item 134404	NM_000142.5(FGFR3):c.1150T>C (p.Phe384Leu)	FGFR3 (F384L +1 more)	Single nucleotide variant (missense variant +2 more)	Achondroplasia +16 more	GBenign/Likely benign
Select item 809609	NM_000142.5(FGFR3):c.1172C>T (p.Ala391Val)	FGFR3 (A391V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 134409	NM_000142.5(FGFR3):c.1345C>T (p.Pro449Ser)	FGFR3 (P449S +3 more)	Single nucleotide variant (missense variant +1 more)	Connective tissue disorder +3 more	GBenign/Likely benign
Select item 134410	NM_000142.5(FGFR3):c.1349C>T (p.Thr450Met)	FGFR3 (T450M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 719200	NM_000142.5(FGFR3):c.1513G>A (p.Val505Ile)	FGFR3 (V506I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2175405	NM_000142.5(FGFR3):c.1578G>A (p.Met526Ile)	FGFR3 (M528I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 16338	NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys)	FGFR3 (N540K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +18 more	GPathogenic/Likely pathogenic
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 condition +4 more	GPathogenic
Select item 546957	NM_000142.5(FGFR3):c.1664T>A (p.Val555Glu)	FGFR3 (V555E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 767152	NM_000142.5(FGFR3):c.1671C>T (p.Tyr557=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 432751	NM_000142.5(FGFR3):c.1675G>C (p.Ala559Pro)	FGFR3 (A559P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2654578	NM_000142.5(FGFR3):c.1697T>C (p.Phe566Ser)	FGFR3 (F454S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 444628	NM_000142.5(FGFR3):c.1752G>A (p.Pro584=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	FGFR3-related condition +1 more	GConflicting classifications of pathogenicity
Select item 221944	NM_000142.5(FGFR3):c.1879G>A (p.Glu627Lys)	FGFR3 (E629K +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 255336	NM_000142.5(FGFR3):c.1959+8C>T	FGFR3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1176796	NM_000142.5(FGFR3):c.2066C>T (p.Thr689Met)	FGFR3 (T577M +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1196039	NM_000142.5(FGFR3):c.2169-33G>A	FGFR3	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 976546	NM_000142.5(FGFR3):c.2169-5C>T	FGFR3	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 715119	NM_000142.5(FGFR3):c.2316G>A (p.Pro772=)	FGFR3 (G750R)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2073535	NM_000142.5(FGFR3):c.2362G>A (p.Val788Met)	FGFR3 (V789M +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 16334	NM_000142.5(FGFR3):c.2419T>G (p.Ter807Gly)	FGFR3 (V784G)	Single nucleotide variant (stop lost +2 more)	not provided	GPathogenic
Select item 3024630	GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1	USP17L10, USP17L11 +117 more	Copy number loss	not provided	GPathogenic
Select item 2583026	GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1	POLN, ZNF518B +132 more	Copy number loss	not provided	GPathogenic

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Items: 41