C0542518[trait identifier] AND "Molecular Genetics laboratory, Necker - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1328415	NM_153240.5(NPHP3):c.3412_3413del (p.Leu1138fs)	NPHP3, NPHP3-ACAD11 (L1138fs)	Deletion (non-coding transcript variant +1 more)	Enlarged kidney +2 more	GLikely pathogenic
Select item 1328414	NM_153240.5(NPHP3):c.2279_2280insT (p.Asn761fs)	NPHP3, NPHP3-ACAD11 (N761fs)	Insertion (non-coding transcript variant +1 more)	Enlarged kidney +2 more	GLikely pathogenic
Select item 1328423	NM_016306.6(DNAJB11):c.600-2A>C	DNAJB11	Single nucleotide variant (splice acceptor variant)	Enlarged kidney +2 more	GLikely pathogenic
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 1328425	NM_153704.6(TMEM67):c.651+2T>C	TMEM67	Single nucleotide variant (splice donor variant)	Enlarged kidney +2 more	GLikely pathogenic
Select item 1328424	NM_153704.6(TMEM67):c.1981_1982delinsT (p.Ala661fs)	TMEM67 (A580fs +1 more)	Indel (frameshift variant +1 more)	Enlarged kidney +2 more	GLikely pathogenic
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