C2751306[trait identifier] AND "Institute for Human Genetics and Genom - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242224	NM_000297.4(PKD2):c.748_781delinsT (p.Thr250_Pro261delinsSer)	PKD2	Indel (inframe_indel +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 397507	NM_000297.4(PKD2):c.916C>T (p.Arg306Ter)	PKD2 (R306*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 1177372	NM_000297.4(PKD2):c.1116dup (p.Asp373fs)	PKD2 (D373fs)	Duplication (frameshift variant +1 more)	Polycystic kidney disease 2	GLikely pathogenic
Select item 1334447	NM_000297.4(PKD2):c.2020-5A>G	PKD2	Single nucleotide variant (intron variant)	Polycystic kidney disease 2	GConflicting classifications of pathogenicity
Select item 3777038	NM_000297.4(PKD2):c.2080C>T (p.Gln694Ter)	PKD2 (Q694*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 2	GLikely pathogenic

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