ClinVar for MedGen (Select 1823995) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236195	NM_013338.5(ALG5):c.115C>T (p.Arg39Ter)	ALG5 (R39*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 7	GLikely pathogenic
Select item 3234029	NM_013338.5(ALG5):c.717ATT[1] (p.Leu240del)	ALG5 (L210del +1 more)	Microsatellite (inframe_deletion)	Polycystic kidney disease 7	GUncertain significance
Select item 3066151	NM_013338.5(ALG5):c.672G>A (p.Trp224Ter)	ALG5 (W194* +1 more)	Single nucleotide variant (nonsense)	Polycystic kidney disease 7	GLikely pathogenic
Select item 3064450	NM_013338.5(ALG5):c.746C>T (p.Thr249Met)	ALG5 (T219M +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease 7	GUncertain significance
Select item 1708164	NM_013338.5(ALG5):c.623G>A (p.Arg208His)	ALG5 (R208H +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease 7	GPathogenic
Select item 1708163	NM_013338.5(ALG5):c.635G>A (p.Arg212His)	ALG5 (R212H +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease 7	GPathogenic
Select item 1708162	NM_013338.5(ALG5):c.773G>A (p.Trp258Ter)	ALG5 (W258* +1 more)	Single nucleotide variant (nonsense)	Polycystic kidney disease 7	GPathogenic
Select item 1708161	NM_013338.5(ALG5):c.703_704del (p.Gln235fs)	ALG5 (Q205fs +1 more)	Microsatellite (frameshift variant)	Polycystic kidney disease 7	GPathogenic

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