ClinVar for OMIM (Select 601313) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 253132	NM_198334.3(GANAB):c.2449C>T (p.Arg817Trp)	GANAB (R839W +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 253130	NM_198334.3(GANAB):c.1148C>G (p.Thr383Arg)	GANAB (T405R +5 more)	Single nucleotide variant (missense variant)	POLYCYSTIC KIDNEY DISEASE 3 WITHOUT POLYCYSTIC LIVER DISEASE	GPathogenic
Select item 253128	NM_198334.3(GANAB):c.1199G>T (p.Arg400Leu)	GANAB (R422L +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 208140	NM_001009944.3(PKD1):c.9988dup (p.Ser3330fs)	PKD1 (S3330fs)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	Gnot provided
Select item 208064	NM_001009944.3(PKD1):c.445del (p.Gln149fs)	PKD1 (Q149fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 65408	NM_178170.3(NEK8):c.1795C>T (p.Arg599Ter)	NEK8 (R599*)	Single nucleotide variant (nonsense)	Nephronophthisis 9 +2 more	GPathogenic/Likely pathogenic

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