ClinVar for MedGen (Select 1684665) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2690641	NM_001190787.3(MCIDAS):c.501del (p.Pro168fs)	MCIDAS (P168fs)	Deletion (frameshift variant)	Ciliary dyskinesia, primary, 42	GLikely pathogenic
Select item 2585452	NM_001190787.3(MCIDAS):c.382G>A (p.Asp128Asn)	MCIDAS (D128N)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 42	GUncertain significance
Select item 2428733	NM_001190787.3(MCIDAS):c.120+2dup	MCIDAS	Duplication (splice donor variant)	Ciliary dyskinesia, primary, 42	GUncertain significance
Select item 1574564	NM_001190787.3(MCIDAS):c.121-19C>A	MCIDAS	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 939353	NM_001190787.3(MCIDAS):c.1040C>T (p.Ser347Phe)	MCIDAS (S347F)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 42 +2 more	GUncertain significance
Select item 800285	NM_001190787.3(MCIDAS):c.717+2T>G	MCIDAS	Single nucleotide variant (splice donor variant)	Ciliary dyskinesia, primary, 42	GPathogenic
Select item 454527	NM_001190787.3(MCIDAS):c.218-13_218-6dup	MCIDAS	Duplication (intron variant)	MCIDAS-related condition +2 more	GLikely benign
Select item 454526	NM_001190787.3(MCIDAS):c.162G>T (p.Gly54=)	MCIDAS	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GBenign/Likely benign
Select item 403074	NM_001190787.3(MCIDAS):c.831C>T (p.Cys277=)	MCIDAS	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 238622	NM_001190787.3(MCIDAS):c.821G>A (p.Gly274Glu)	MCIDAS (G274E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 238618	NM_001190787.3(MCIDAS):c.120+3G>A	MCIDAS	Single nucleotide variant (intron variant)	Ciliary dyskinesia, primary, 42 +2 more	GConflicting classifications of pathogenicity
Select item 209009	NM_001190787.3(MCIDAS):c.1142G>A (p.Arg381His)	MCIDAS (R381H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 209008	NM_001190787.3(MCIDAS):c.1097G>A (p.Gly366Asp)	MCIDAS (G366D)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 42	GPathogenic
Select item 209007	NM_001190787.3(MCIDAS):c.441C>A (p.Cys147Ter)	MCIDAS (C147*)	Single nucleotide variant (nonsense)	Ciliary dyskinesia, primary, 42	GPathogenic