ClinVar for MedGen (Select 41325) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 781692	NM_153614.4(DNAJB13):c.671G>A (p.Arg224His)	DNAJB13 (R224H +1 more)	Single nucleotide variant (missense variant)	Cough +1 more	GConflicting classifications of pathogenicity
Select item 598999	NM_001199397.3(NEK1):c.859C>G (p.Pro287Ala)	NEK1 (P287A)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +6 more	GConflicting classifications of pathogenicity
Select item 474640	NM_033124.5(CCDC65):c.494del (p.Glu165fs)	CCDC65 (E22fs +1 more)	Deletion (frameshift variant)	Anomalous origin of coronary artery from the pulmonary artery +3 more	GPathogenic
Select item 454724	NM_001369.3(DNAH5):c.10021C>G (p.Leu3341Val)	DNAH5 (L3341V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +4 more	GUncertain significance
Select item 266046	NM_001199397.3(NEK1):c.1021G>A (p.Ala341Thr)	NEK1 (A341T)	Single nucleotide variant (missense variant +1 more)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 238270	NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile)	DYNC2H1 (L1228I)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity

ClinVar