C0036069[trait identifier] AND "Center of Genomic medicine, Geneva, Un - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 437419	NM_001377.3(DYNC2H1):c.1953G>A (p.Lys651=)	DYNC2H1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 373013	NM_001377.3(DYNC2H1):c.4625C>T (p.Ala1542Val)	DYNC2H1 (A1542V)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +2 more	GLikely pathogenic