ClinVar for MedGen (Select 1662086) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 504483	NM_015693.4(INTU):c.826C>T (p.Gln276Ter)	INTU (Q276*)	Single nucleotide variant (nonsense)	Short-rib thoracic dysplasia 20 with polydactyly +1 more	GConflicting classifications of pathogenicity
Select item 446644	NM_020779.4(WDR35):c.932G>T (p.Trp311Leu)	WDR35 (W311L)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GConflicting classifications of pathogenicity