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Links from MedGen

Items: 25

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNAH5
(R1805C)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 3
GUncertain significance
ZSWIM7
(S59L)
Single nucleotide variant
(missense variant)
Infertility disorder
GLikely pathogenic
CFTR, CFTR-AS1
(F508C +1 more)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GPathogenic
POLR2C
(V182A)
Single nucleotide variant
(missense variant)
Deafness
+1 more
GUncertain significance
DNAAF11
(I9M)
Single nucleotide variant
(missense variant +3 more)
Primary ciliary dyskinesia 19
GUncertain significance
DNAH5
(R2255*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia
+2 more
GPathogenic/Likely pathogenic
DNAH11
(L370M)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GBenign
CATSPER2
(W307S +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GConflicting classifications of pathogenicity
FGFR1
(R822H +6 more)
Single nucleotide variant
(missense variant +1 more)
Osteoglophonic dysplasia
+8 more
GUncertain significance
DNAH5
(R1805C)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 3
+2 more
GConflicting classifications of pathogenicity
DNAH5
(R4084Q)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
CFTR
(L967S)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
DNAI1
(R650C +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
TAC3
(H83R)
Single nucleotide variant
(missense variant +2 more)
Delayed puberty
+1 more
GConflicting classifications of pathogenicity
TGFBR3
(T839M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CFTR
(A120T)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
CFTR
(M1137V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
MYO6
(R1059T +1 more)
Single nucleotide variant
(missense variant +1 more)
Infertility disorder
+6 more
GConflicting classifications of pathogenicity
CCDC103
(H154P)
Single nucleotide variant
(missense variant +1 more)
CCDC103-related disorder
+3 more
GPathogenic/Likely pathogenic
CCDC39
Single nucleotide variant
(splice donor variant)
Primary ciliary dyskinesia 14
+3 more
GPathogenic
GNRHR
(Q106R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GPathogenic/Likely pathogenic
CFTR, LOC111674472
(L997F)
Single nucleotide variant
(missense variant)
Cystic fibrosis
+4 more
GConflicting classifications of pathogenicity
CFTR, CFTR-AS1
(F508C)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
+5 more
GConflicting classifications of pathogenicity
PROKR2
(L173R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
NPHP4
(R682* +2 more)
Single nucleotide variant
(nonsense +1 more)
Nephronophthisis
+1 more
GPathogenic
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