C3275899[trait identifier] AND "Molecular Genetics laboratory, Necker - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1328420	NM_000297.4(PKD2):c.2020-2del	PKD2	Deletion (splice acceptor variant)	Enlarged kidney +3 more	GLikely pathogenic
Select item 1328419	NM_138694.4(PKHD1):c.11421del (p.Asp3808fs)	PKHD1 (D3808fs)	Deletion (frameshift variant)	Enlarged kidney +2 more	GPathogenic
Select item 1328418	NM_138694.4(PKHD1):c.10287dup (p.Val3430fs)	PKHD1 (V3430fs)	Duplication (frameshift variant)	Enlarged kidney +3 more	GPathogenic
Select item 1328417	NM_138694.4(PKHD1):c.1694-74_1837-287del	PKHD1	Deletion (splice acceptor variant +1 more)	Anhydramnios +3 more	GPathogenic
Select item 1328416	NM_138694.4(PKHD1):c.444_445del (p.Pro149fs)	PKHD1 (P149fs)	Deletion (frameshift variant)	Enlarged kidney +3 more	GPathogenic
Select item 1328422	NM_001009944.3(PKD1):c.11156+2T>C	PKD1, PKD1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Enlarged kidney +3 more	GLikely pathogenic

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