ClinVar for MedGen (Select 1780196) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2436509	NM_015690.5(STK36):c.1915+1G>A	STK36	Single nucleotide variant (splice donor variant)	Ciliary dyskinesia, primary, 46	GUncertain significance
Select item 1691318	NM_015690.5(STK36):c.3643G>A (p.Ala1215Thr)	STK36 (A1194T +1 more)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 46 +1 more	GUncertain significance
Select item 1691312	NM_015690.5(STK36):c.1232A>T (p.Asn411Ile)	STK36 (N411I)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 46	GUncertain significance
Select item 1179004	NM_015690.5(STK36):c.1399del (p.Glu467fs)	STK36 (E467fs)	Deletion (frameshift variant)	Ciliary dyskinesia, primary, 46	GPathogenic
Select item 780860	NM_015690.5(STK36):c.2518T>G (p.Leu840Val)	STK36 (L840V)	Single nucleotide variant (missense variant +1 more)	Ciliary dyskinesia, primary, 46 +1 more	GBenign/Likely benign
Select item 779868	NM_015690.5(STK36):c.3540C>T (p.Ala1180=)	STK36	Single nucleotide variant (synonymous variant)	Ciliary dyskinesia, primary, 46 +1 more	GBenign

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