C0151908[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523383	NM_000969.5(RPL5):c.74-1G>C	DIPK1A, RPL5	Single nucleotide variant (splice acceptor variant +1 more)	Hepatomegaly +16 more	GPathogenic
Select item 523448	NM_002016.2(FLG):c.544A>T (p.Lys182Ter)	FLG, FLG-AS1 (K182*)	Single nucleotide variant (nonsense)	Microcephaly +7 more	GPathogenic
Select item 523385	NM_001009944.3(PKD1):c.226C>T (p.His76Tyr)	PKD1 (H76Y)	Single nucleotide variant (missense variant)	Polycystic kidney disease +12 more	GUncertain significance

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