"Dan Cohn Lab, University Of California Los Angeles"[submitter] AND "I - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 446695	NM_015693.4(INTU):c.1288C>T (p.Arg430Cys)	INTU, LOC126807151 (R430C)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy	GConflicting classifications of pathogenicity
Select item 446689	NM_015693.4(INTU):c.1628G>A (p.Arg543His)	INTU (R543H)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy	GConflicting classifications of pathogenicity