"3billion"[submitter] AND "DYNC2H1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1333515	NM_001377.3(DYNC2H1):c.499C>T (p.Arg167Ter)	DYNC2H1 (R167*)	Single nucleotide variant (nonsense)	Jeune thoracic dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 2572527	NM_001377.3(DYNC2H1):c.2443G>C (p.Gly815Arg)	DYNC2H1 (G815R)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 6500	NM_001377.3(DYNC2H1):c.5971A>T (p.Met1991Leu)	DYNC2H1 (M1991L)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 439630	NM_001377.3(DYNC2H1):c.6115C>T (p.Arg2039Cys)	DYNC2H1 (R2039C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2572451	NM_001377.3(DYNC2H1):c.7547C>G (p.Ser2516Ter)	DYNC2H1 (S2516*)	Single nucleotide variant (nonsense)	Asphyxiating thoracic dystrophy 3	GLikely pathogenic
Select item 802717	NM_001377.3(DYNC2H1):c.8885AAG[1] (p.Glu2963del)	DYNC2H1 (E2963del)	Microsatellite (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 6501	NM_001377.3(DYNC2H1):c.11263A>G (p.Met3755Val)	DYNC2H1 (M3762V +1 more)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +3 more	GConflicting classifications of pathogenicity

ClinVar