Related gene-specific medical variations for Gene (Select 127018) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3121710	NM_138794.5(LYPLAL1):c.64G>A (p.Ala22Thr)	LYPLAL1, LOC129932517 (A22T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685839	GRCh37/hg19 1q41(chr1:219125112-219387389)x3	LYPLAL1	Copy number gain	not provided	GUncertain significance
Select item 2488674	NM_138794.5(LYPLAL1):c.71T>C (p.Leu24Pro)	LOC129932517, LYPLAL1 (L24P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390224	NM_138794.5(LYPLAL1):c.39C>G (p.Ile13Met)	LOC129932517, LYPLAL1 (I13M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286491	NM_138794.5(LYPLAL1):c.29A>C (p.Gln10Pro)	LOC129932517, LYPLAL1 (Q10P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1341296	GRCh37/hg19 1q41(chr1:219125125-219480797)x1	LYPLAL1	Copy number loss	not provided	GUncertain significance
Select item 759907	NM_138794.5(LYPLAL1):c.70C>T (p.Leu24=)	LOC129932517, LYPLAL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 443367	GRCh37/hg19 1q41(chr1:219089280-219951094)x3	LYPLAL1	Copy number gain	See cases	GLikely benign

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