C3149841[trait identifier] AND "Molecular Genetics, Royal Melbourne Ho - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1678551	NM_001009944.3(PKD1):c.12445-17_12445-3del	MIR1225, PKD1	Deletion (non-coding transcript variant +1 more)	Polycystic kidney disease, adult type	GUncertain significance
Select item 972880	NM_001009944.3(PKD1):c.12326_12335del (p.Arg4109fs)	PKD1 (R4109fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 3068690	NM_001009944.3(PKD1):c.11927G>T (p.Ser3976Ile)	PKD1 (S3975I +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 8201	NM_001009944.3(PKD1):c.11457C>A (p.Tyr3819Ter)	PKD1, PKD1-AS1 (Y3818* +1 more)	Single nucleotide variant (nonsense)	Autosomal dominant polycystic kidney disease +1 more	GPathogenic
Select item 374097	NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys)	PKD1 (E2771K)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic kidney disease +4 more	GPathogenic/Likely pathogenic
Select item 977080	NM_001009944.3(PKD1):c.8224G>A (p.Glu2742Lys)	PKD1 (E2742K)	Single nucleotide variant (missense variant)	PKD1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1676237	NM_001009944.3(PKD1):c.6384C>G (p.Asn2128Lys)	PKD1 (N2128K)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 1678608	NM_001009944.3(PKD1):c.6115C>T (p.Gln2039Ter)	PKD1 (Q2039*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type +1 more	GPathogenic
Select item 1678559	NM_001009944.3(PKD1):c.2038T>G (p.Tyr680Asp)	PKD1 (Y680D)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance