Related gene-specific medical variations for Gene (Select 79834) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3354269	NM_001385026.1(PEAK1):c.1935G>A (p.Leu645=)	LOC130057657, PEAK1	Single nucleotide variant (synonymous variant)	PEAK1-related disorder	GLikely benign
Select item 3031058	NM_001385026.1(PEAK1):c.1971C>G (p.Thr657=)	LOC130057657, PEAK1	Single nucleotide variant (synonymous variant)	PEAK1-related disorder	GLikely benign
Select item 2558272	NM_001385026.1(PEAK1):c.11G>A (p.Cys4Tyr)	LOC130057658, PEAK1 (C4Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524240	NM_001385026.1(PEAK1):c.1958T>C (p.Val653Ala)	LOC130057657, PEAK1 (V653A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513795	NM_001385026.1(PEAK1):c.41C>G (p.Pro14Arg)	LOC130057658, PEAK1 (P14R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229110	NM_001385026.1(PEAK1):c.1950A>T (p.Glu650Asp)	LOC130057657, PEAK1 (E650D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 151929	GRCh38/hg38 15q24.3(chr15:77318715-77342090)x1	PEAK1	Copy number loss	See cases	GBenign
Select item 151926	GRCh38/hg38 15q24.3(chr15:77259227-77280380)x1	PEAK1	Copy number loss	See cases	GLikely benign

ClinVar