"Ambry Genetics"[submitter] AND "MCIDAS"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2478924	NM_001190787.3(MCIDAS):c.1137G>C (p.Lys379Asn)	MCIDAS (K379N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337205	NM_001190787.3(MCIDAS):c.1117A>G (p.Thr373Ala)	MCIDAS (T373A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1008453	NM_001190787.3(MCIDAS):c.964G>A (p.Ala322Thr)	MCIDAS (A322T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 2598874	NM_001190787.3(MCIDAS):c.941C>A (p.Thr314Asn)	MCIDAS (T314N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558075	NM_001190787.3(MCIDAS):c.849C>G (p.Ile283Met)	MCIDAS (I283M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318290	NM_001190787.3(MCIDAS):c.845C>G (p.Ala282Gly)	MCIDAS (A282G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2482379	NM_001190787.3(MCIDAS):c.793A>C (p.Ser265Arg)	MCIDAS (S265R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242758	NM_001190787.3(MCIDAS):c.740G>A (p.Arg247Gln)	MCIDAS (R247Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546587	NM_001190787.3(MCIDAS):c.707C>G (p.Ser236Trp)	MCIDAS (S236W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549784	NM_001190787.3(MCIDAS):c.665T>A (p.Val222Glu)	MCIDAS (V222E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204583	NM_001190787.3(MCIDAS):c.567C>A (p.Asn189Lys)	MCIDAS (N189K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518310	NM_001190787.3(MCIDAS):c.401C>T (p.Ser134Leu)	MCIDAS (S134L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246494	NM_001190787.3(MCIDAS):c.365T>C (p.Val122Ala)	MCIDAS (V122A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 664061	NM_001190787.3(MCIDAS):c.364G>C (p.Val122Leu)	MCIDAS (V122L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 2295898	NM_001190787.3(MCIDAS):c.187C>A (p.Pro63Thr)	MCIDAS (P63T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390987	NM_001190787.3(MCIDAS):c.182A>G (p.Glu61Gly)	MCIDAS (E61G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317683	NM_001190787.3(MCIDAS):c.56C>G (p.Pro19Arg)	LOC129993892, MCIDAS (P19R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance