Related gene-specific medical variations for Gene (Select 23194) - ClinVar - NCBI

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

Links from Gene

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3093568	NM_012304.5(FBXL7):c.995G>A (p.Ser332Asn)	FBXL7, LOC126807327 (S332N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093566	NM_012304.5(FBXL7):c.764G>A (p.Ser255Asn)	FBXL7, LOC126807327 (S208N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093563	NM_012304.5(FBXL7):c.1228G>A (p.Gly410Ser)	FBXL7, LOC126807327 (G363S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609164	NM_012304.5(FBXL7):c.1109A>T (p.Tyr370Phe)	FBXL7, LOC126807327 (Y370F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546073	NM_012304.5(FBXL7):c.843C>A (p.Asp281Glu)	FBXL7, LOC126807327 (D234E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531657	NM_012304.5(FBXL7):c.1106G>A (p.Arg369His)	FBXL7, LOC126807327 (R322H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468721	NM_012304.5(FBXL7):c.778G>A (p.Ala260Thr)	FBXL7, LOC126807327 (A213T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455420	NM_012304.5(FBXL7):c.1081G>A (p.Gly361Ser)	FBXL7, LOC126807327 (G361S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385286	NM_012304.5(FBXL7):c.1027C>T (p.Arg343Trp)	FBXL7, LOC126807327 (R343W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352284	NM_012304.5(FBXL7):c.1085G>A (p.Arg362Gln)	FBXL7, LOC126807327 (R315Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345352	NM_012304.5(FBXL7):c.1004G>A (p.Arg335His)	FBXL7, LOC126807327 (R288H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275059	NM_012304.5(FBXL7):c.958G>A (p.Val320Met)	FBXL7, LOC126807327 (V320M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2216819	NM_012304.5(FBXL7):c.888C>G (p.His296Gln)	FBXL7, LOC126807327 (H249Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808800	GRCh37/hg19 5p15.1(chr5:15086015-15868591)x3	FBXL7	Copy number gain	not provided	GUncertain significance
Select item 1708463	GRCh37/hg19 5p15.1(chr5:15086014-15868591)x3	FBXL7	Copy number gain	DiGeorge syndrome	GUncertain significance