Related gene-specific medical variations for Gene (Select 157638) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3291207	NM_174911.5(LRATD2):c.604G>C (p.Glu202Gln)	LOC130001123, LRATD2 (E202Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119839	NM_174911.5(LRATD2):c.869C>T (p.Pro290Leu)	LOC130001122, LRATD2 (P290L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615726	NM_174911.5(LRATD2):c.508C>G (p.Leu170Val)	LOC130001123, LRATD2 (L170V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476171	NM_174911.5(LRATD2):c.541G>A (p.Val181Met)	LOC130001123, LRATD2 (V181M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463691	NM_174911.5(LRATD2):c.892C>T (p.Pro298Ser)	LOC130001122, LRATD2 (P298S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 815168	GRCh37/hg19 8q24.21(chr8:127500924-127712595)x3	LRATD2	Copy number gain	not provided	GUncertain significance
Select item 443192	GRCh37/hg19 8q24.13-24.21(chr8:127103853-127670426)x1	LRATD2	Copy number loss	See cases	GUncertain significance
Select item 441138	NM_174911.5(LRATD2):c.391_392dup (p.His132fs)	LOC105375751, LRATD2 (H132fs)	Duplication (frameshift variant +1 more)	not provided	Gnot provided

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