Related gene-specific medical variations for Gene (Select 136332) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3119995	NM_144648.3(LRGUK):c.37G>A (p.Ala13Thr)	LOC129999389, LRGUK (A13T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119986	NM_144648.3(LRGUK):c.143A>G (p.Gln48Arg)	LOC129999389, LRGUK (Q48R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514519	NM_144648.3(LRGUK):c.68C>A (p.Ser23Tyr)	LOC129999389, LRGUK (S23Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508763	NM_144648.3(LRGUK):c.36A>C (p.Arg12Ser)	LOC129999389, LRGUK (R12S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373591	NM_144648.3(LRGUK):c.70C>G (p.Arg24Gly)	LOC129999389, LRGUK (R24G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318843	NM_144648.3(LRGUK):c.203G>A (p.Arg68His)	LOC129999389, LRGUK (R68H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259531	NM_144648.3(LRGUK):c.244G>A (p.Glu82Lys)	LOC129999389, LRGUK (E82K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 563284	GRCh37/hg19 7q33(chr7:133856664-133929449)x1	LRGUK	Copy number loss	not provided	GUncertain significance

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