FBLIM1[gene] and "single gene"[properties] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1098625	NC_000001.11:g.15760305_15785410del	FBLIM1	Deletion	See cases	GUncertain significance
Select item 2273427	NM_017556.4(FBLIM1):c.23G>A (p.Arg8Lys)	FBLIM1 (R8K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1722439	NM_017556.4(FBLIM1):c.113G>A (p.Arg38Gln)	FBLIM1 (R38Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785931	NM_017556.4(FBLIM1):c.115C>T (p.Arg39Cys)	FBLIM1 (R39C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3277911	NM_017556.4(FBLIM1):c.122G>A (p.Arg41His)	FBLIM1 (R41H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775515	NM_017556.4(FBLIM1):c.222G>A (p.Pro74=)	FBLIM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3093295	NM_017556.4(FBLIM1):c.233T>C (p.Met78Thr)	FBLIM1 (M78T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469625	NM_017556.4(FBLIM1):c.289G>A (p.Val97Met)	FBLIM1 (V97M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507453	NM_017556.4(FBLIM1):c.316C>T (p.Pro106Ser)	FBLIM1 (P106S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268790	NM_017556.4(FBLIM1):c.340C>T (p.Leu114Phe)	FBLIM1 (L114F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2230320	NM_017556.4(FBLIM1):c.380C>T (p.Ala127Val)	FBLIM1 (A127V)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3093296	NM_017556.4(FBLIM1):c.385C>T (p.Leu129Phe)	FBLIM1 (L129F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 770111	NM_017556.4(FBLIM1):c.468C>T (p.Pro156=)	FBLIM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3093297	NM_017556.4(FBLIM1):c.469G>A (p.Gly157Ser)	FBLIM1 (G157S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093298	NM_017556.4(FBLIM1):c.470G>A (p.Gly157Asp)	FBLIM1 (G157D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 782904	NM_017556.4(FBLIM1):c.520G>A (p.Val174Ile)	FBLIM1 (V174I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2319141	NM_017556.4(FBLIM1):c.598A>G (p.Met200Val)	FBLIM1 (M103V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473312	NM_017556.4(FBLIM1):c.635G>A (p.Arg212His)	FBLIM1 (R212H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093299	NM_017556.4(FBLIM1):c.644G>A (p.Arg215His)	FBLIM1 (R215H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681277	NM_017556.4(FBLIM1):c.658G>A (p.Gly220Arg)	FBLIM1 (G123R +1 more)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2255760	NM_017556.4(FBLIM1):c.665G>A (p.Ser222Asn)	FBLIM1 (S125N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241158	NM_017556.4(FBLIM1):c.686G>A (p.Arg229Gln)	FBLIM1 (R132Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277914	NM_017556.4(FBLIM1):c.730G>A (p.Gly244Ser)	FBLIM1 (G147S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382004	NM_017556.4(FBLIM1):c.751C>T (p.Arg251Trp)	FBLIM1 (R154W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277910	NM_017556.4(FBLIM1):c.817G>A (p.Ala273Thr)	FBLIM1 (A176T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594894	NM_017556.4(FBLIM1):c.820C>T (p.Arg274Trp)	FBLIM1 (R177W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373228	NM_017556.4(FBLIM1):c.821G>A (p.Arg274Gln)	FBLIM1 (R177Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093300	NM_017556.4(FBLIM1):c.890+11G>A	FBLIM1 (G301S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 780215	NM_017556.4(FBLIM1):c.890+32G>T	FBLIM1 (A308S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2535196	NM_017556.4(FBLIM1):c.890+78G>C	FBLIM1 (S323T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 786981	NM_017556.4(FBLIM1):c.890+112G>A	FBLIM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3093294	NM_017556.4(FBLIM1):c.890+126A>C	FBLIM1 (E339A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277913	NM_017556.4(FBLIM1):c.890+149G>A	FBLIM1 (A347T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370197	NM_017556.4(FBLIM1):c.890+150C>T	FBLIM1 (A347V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277912	NM_017556.4(FBLIM1):c.904G>A (p.Val302Ile)	FBLIM1 (V205I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380331	NM_017556.4(FBLIM1):c.925C>T (p.Pro309Ser)	FBLIM1 (P309S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206439	NM_017556.4(FBLIM1):c.937C>T (p.Arg313Trp)	FBLIM1 (R313W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 37