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Links from MedGen

Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYO9A
(Q782K)
Single nucleotide variant
(missense variant)
Bronchiectasis
GUncertain significance
MYO9A
(R2219H)
Single nucleotide variant
(missense variant)
Bronchiectasis
GUncertain significance
BRWD1
(L339S)
Single nucleotide variant
(missense variant)
Male infertility
+3 more
GUncertain significance
BRWD1
(Q1858L)
Single nucleotide variant
(missense variant)
Ciliary dyskinesia, primary, 51
+5 more
GPathogenic/Likely pathogenic
BRWD1
(H175Y)
Single nucleotide variant
(missense variant)
Ciliary dyskinesia, primary, 51
+5 more
GConflicting classifications of pathogenicity
BRWD1, LOC130066680
(G56S)
Single nucleotide variant
(missense variant)
Male infertility
+4 more
GUncertain significance
USP11
Single nucleotide variant
Dynein arm defect of respiratory motile cilia
+3 more
GLikely pathogenic
SCNN1A
(R476Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
STAT1
(T385M +9 more)
Single nucleotide variant
(missense variant)
Inherited Immunodeficiency Diseases
+17 more
GPathogenic
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