Related gene-specific medical variations for Gene (Select 144100) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3307520	NM_001329630.2(PLEKHA7):c.2110G>A (p.Val704Ile)	LOC126861150, PLEKHA7 (V704I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3214829	NM_001329630.2(PLEKHA7):c.2072C>G (p.Thr691Ser)	LOC126861150, PLEKHA7 (T691S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214828	NM_001329630.2(PLEKHA7):c.2066G>A (p.Ser689Asn)	LOC126861150, PLEKHA7 (S689N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214827	NM_001329630.2(PLEKHA7):c.2008A>G (p.Met670Val)	LOC126861150, PLEKHA7 (M670V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528122	NM_001329630.2(PLEKHA7):c.2015G>T (p.Gly672Val)	LOC126861150, PLEKHA7 (G672V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1686098	NM_001329630.2(PLEKHA7):c.2129A>G (p.Asp710Gly)	LOC126861150, PLEKHA7 (D710G)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 980401	GRCh37/hg19 11p15.1(chr11:16870083-16991042)x1	PLEKHA7	Copy number loss	not provided	GUncertain significance
Select item 781956	NM_001329630.2(PLEKHA7):c.2077G>A (p.Val693Ile)	PLEKHA7, LOC126861150 (V693I)	Single nucleotide variant (missense variant)	not provided	GLikely benign

ClinVar