Related gene-specific medical variations for Gene (Select 153478) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3214986	NM_052909.5(PLEKHG4B):c.3547G>A (p.Val1183Ile)	LOC126807280, PLEKHG4B (V1183I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214985	NM_052909.5(PLEKHG4B):c.3535T>C (p.Cys1179Arg)	PLEKHG4B, LOC126807280 (C1179R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612812	NM_052909.5(PLEKHG4B):c.3682C>G (p.Arg1228Gly)	LOC126807280, PLEKHG4B (R1228G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517129	NM_052909.5(PLEKHG4B):c.3482G>A (p.Arg1161Gln)	LOC126807280, PLEKHG4B (R1161Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231060	NM_052909.5(PLEKHG4B):c.3602G>A (p.Arg1201Gln)	LOC126807280, PLEKHG4B (R1201Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782695	NM_052909.5(PLEKHG4B):c.3534G>A (p.Arg1178=)	LOC126807280, PLEKHG4B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 394850	GRCh37/hg19 5p15.33(chr5:52186-151737)x3	PLEKHG4B	Copy number gain	See cases	GBenign
Select item 393954	GRCh37/hg19 5p15.33(chr5:22149-167219)x3	PLEKHG4B	Copy number gain	See cases	GBenign
Select item 202215	GRCh37/hg19 5p15.33(chr5:55550-159673)x3	PLEKHG4B	Copy number gain	See cases	GBenign
Select item 161792	NM_052909.5(PLEKHG4B):c.2311C>T (p.Arg771Trp)	PLEKHG4B (R771W)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 144687	GRCh38/hg38 5p15.33(chr5:90109-138297)x1	PLEKHG4B	Copy number loss	See cases	GBenign