"Gharavi Laboratory, Columbia University"[submitter] AND "DYNC2H1"[gen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 591376	NM_001377.3(DYNC2H1):c.367-2A>G	DYNC2H1	Single nucleotide variant (splice acceptor variant)	Jeune thoracic dystrophy	GLikely pathogenic
Select item 591992	NM_001377.3(DYNC2H1):c.1377del (p.Phe459fs)	DYNC2H1 (F459fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 591096	NM_001377.3(DYNC2H1):c.4698del (p.Gln1566fs)	DYNC2H1 (Q1566fs)	Deletion (frameshift variant)	Asphyxiating thoracic dystrophy 3 +1 more	GPathogenic/Likely pathogenic
Select item 591342	NM_001377.3(DYNC2H1):c.8243_8244insCTAATTCTTA (p.Leu2748_Leu2749insTer)	DYNC2H1	Insertion (nonsense +1 more)	not provided	GUncertain significance
Select item 592058	NM_001377.3(DYNC2H1):c.8410C>T (p.Gln2804Ter)	DYNC2H1 (Q2804*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 591054	NM_001377.3(DYNC2H1):c.8816T>G (p.Ile2939Ser)	DYNC2H1 (I2939S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591226	NM_001377.3(DYNC2H1):c.11851_11852delinsAA (p.Ser3951Lys)	DYNC2H1 (S3958K +1 more)	Indel (missense variant)	not provided	GUncertain significance

ClinVar