ClinVar for MedGen (Select 14234) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 997447	NM_006901.4(MYO9A):c.2344C>A (p.Gln782Lys)	MYO9A (Q782K)	Single nucleotide variant (missense variant)	Bronchiectasis	GUncertain significance
Select item 997446	NM_006901.4(MYO9A):c.6656G>A (p.Arg2219His)	MYO9A (R2219H)	Single nucleotide variant (missense variant)	Bronchiectasis	GUncertain significance
Select item 982514	NM_033656.4(BRWD1):c.1016T>C (p.Leu339Ser)	BRWD1 (L339S)	Single nucleotide variant (missense variant)	Recurrent sinusitis +3 more	GUncertain significance
Select item 982437	NM_033656.4(BRWD1):c.5573A>T (p.Gln1858Leu)	BRWD1 (Q1858L)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 51 +5 more	GPathogenic/Likely pathogenic
Select item 982436	NM_033656.4(BRWD1):c.523C>T (p.His175Tyr)	BRWD1 (H175Y)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 51 +5 more	GConflicting classifications of pathogenicity
Select item 982435	NM_033656.4(BRWD1):c.166G>A (p.Gly56Ser)	BRWD1, LOC130066680 (G56S)	Single nucleotide variant (missense variant)	Recurrent sinusitis +4 more	GUncertain significance
Select item 635007	NM_004651.3(USP11):c.1599G>A (p.Thr533=)	USP11	Single nucleotide variant	Dynein arm defect of respiratory motile cilia +3 more	GLikely pathogenic
Select item 598965	NM_001038.6(SCNN1A):c.1427G>A (p.Arg476Gln)	SCNN1A (R476Q +2 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 144006	NM_007315.4(STAT1):c.1154C>T (p.Thr385Met)	STAT1 (T385M +9 more)	Single nucleotide variant (missense variant)	Inherited Immunodeficiency Diseases +17 more	GPathogenic