Related gene-specific medical variations for Gene (Select 25796) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3305984	NM_012088.3(PGLS):c.20G>A (p.Gly7Asp)	PGLS, PGLS-DT (G7D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3211814	NM_012088.3(PGLS):c.7G>A (p.Ala3Thr)	PGLS, PGLS-DT (A3T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3211812	NM_012088.3(PGLS):c.42T>G (p.Ser14Arg)	PGLS, PGLS-DT (S14R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3211808	NM_012088.3(PGLS):c.13G>A (p.Ala5Thr)	PGLS, PGLS-DT (A5T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2616826	NM_012088.3(PGLS):c.112C>G (p.Arg38Gly)	PGLS, PGLS-DT (R38G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2542018	NM_012088.3(PGLS):c.147C>A (p.Ser49Arg)	PGLS, PGLS-DT (S49R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2481094	NM_012088.3(PGLS):c.119G>A (p.Arg40His)	PGLS, PGLS-DT (R40H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2384625	NM_012088.3(PGLS):c.127C>G (p.Leu43Val)	PGLS, PGLS-DT (L43V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2364970	NM_012088.3(PGLS):c.169G>A (p.Glu57Lys)	LOC130063946, PGLS +1 more (E57K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2346594	NM_012088.3(PGLS):c.31G>A (p.Val11Met)	PGLS, PGLS-DT (V11M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2270249	NM_012088.3(PGLS):c.193G>A (p.Ala65Thr)	LOC130063946, PGLS +1 more (A65T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance