Related gene-specific medical variations for Gene (Select 26030) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3169525	NM_001355436.2(SPTB):c.6925G>A (p.Asp2309Asn)	PLEKHG3, SPTB (D2309N)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3059908	NM_001355436.2(SPTB):c.6831G>A (p.Leu2277=)	PLEKHG3, SPTB	Single nucleotide variant (3 prime UTR variant +1 more)	SPTB-related condition	GLikely benign
Select item 2921196	NM_001355436.2(SPTB):c.6724_6726dup (p.Ile2242_Cys2243insIle)	PLEKHG3, SPTB	Duplication (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2690138	NM_001355436.2(SPTB):c.6627G>C (p.Val2209=)	PLEKHG3, SPTB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2524717	NM_001355436.2(SPTB):c.6734T>C (p.Ile2245Thr)	PLEKHG3, SPTB (I2245T)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2508931	NM_001355436.2(SPTB):c.6866A>C (p.Glu2289Ala)	PLEKHG3, SPTB (E2289A)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2507704	NM_001355436.2(SPTB):c.6757A>C (p.Lys2253Gln)	PLEKHG3, SPTB (K2253Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2436443	NM_001355436.2(SPTB):c.6748AAG[3] (p.Lys2253del)	PLEKHG3, SPTB (K2253del)	Microsatellite (3 prime UTR variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2436418	NM_001355436.2(SPTB):c.6937G>A (p.Gly2313Ser)	PLEKHG3, SPTB (G2313S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2428689	NM_001308147.2(PLEKHG3):c.*5935G>C	PLEKHG3, SPTB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2246463	NM_001355436.2(SPTB):c.6880C>G (p.Arg2294Gly)	PLEKHG3, SPTB (R2294G)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1163363	NM_001308147.2(PLEKHG3):c.*5777G>A	PLEKHG3, SPTB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1163362	NM_001355436.2(SPTB):c.6865G>A (p.Glu2289Lys)	PLEKHG3, SPTB (E2289K)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 994335	NM_001355436.2(SPTB):c.6846C>T (p.Gly2282=)	PLEKHG3, SPTB	Single nucleotide variant (3 prime UTR variant +1 more)	SPTB-related condition +1 more	GBenign
Select item 544815	NM_001355436.2(SPTB):c.6737C>T (p.Ala2246Val)	PLEKHG3, SPTB (A2246V)	Single nucleotide variant (3 prime UTR variant +1 more)	Familial hemolytic anemia	GUncertain significance
Select item 544814	NM_001355436.2(SPTB):c.6706C>A (p.Leu2236Met)	PLEKHG3, SPTB (L2236M)	Single nucleotide variant (3 prime UTR variant +1 more)	Familial hemolytic anemia	GUncertain significance
Select item 257137	NM_001355436.2(SPTB):c.6891G>A (p.Ala2297=)	PLEKHG3, SPTB	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GBenign