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Links from MedGen

Items: 38

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNAH8
Single nucleotide variant
(splice acceptor variant)
Spermatogenic failure 46
GLikely pathogenic
DNAH8, DNAH8-AS1
(Q3591* +1 more)
Single nucleotide variant
(nonsense)
Spermatogenic failure 46
GLikely pathogenic
DNAH8
(P4144L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DNAH8
(N4299D +1 more)
Single nucleotide variant
(missense variant)
Spermatogenic failure 46
GUncertain significance
DNAH8
(H1706L +1 more)
Single nucleotide variant
(missense variant)
Spermatogenic failure 46
GUncertain significance
DNAH8
Single nucleotide variant
(intron variant)
Spermatogenic failure 46
+1 more
GLikely benign
DNAH8
(Q1928R +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
DNAH8, DNAH8-AS1
(A3684T +1 more)
Single nucleotide variant
(missense variant)
Spermatogenic failure 46
+1 more
GLikely benign
DNAH8
(K1201E +1 more)
Single nucleotide variant
(missense variant)
Spermatogenic failure 46
+1 more
GUncertain significance
DNAH8
(Y222C +1 more)
Single nucleotide variant
(missense variant)
Spermatogenic failure 46
+1 more
GUncertain significance
DNAH8
(K1002N +1 more)
Single nucleotide variant
(missense variant)
Spermatogenic failure 46
GUncertain significance
DNAH8, LOC126859667
(K127fs)
Deletion
(frameshift variant +1 more)
Spermatogenic failure 46
GPathogenic
DNAH8
(H2104fs +1 more)
Deletion
(frameshift variant)
Primary ciliary dyskinesia
GPathogenic
DNAH8
(K2230R +1 more)
Single nucleotide variant
(missense variant)
Spermatogenic failure 46
GPathogenic
DNAH8, DNAH8-AS1
(N3565T +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
DNAH8
(A4241T +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GLikely benign
DNAH8
(R909H +1 more)
Single nucleotide variant
(missense variant)
Spermatogenic failure 46
+1 more
GUncertain significance
DNAH8, DNAH8-AS1
(R2926C +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAH8
(I4473L +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+2 more
GUncertain significance
DNAH8
(I700M +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
DNAH8, DNAH8-AS1
(A3823V +1 more)
Single nucleotide variant
(missense variant)
Spermatogenic failure 46
+2 more
GUncertain significance
DNAH8
(I2491V +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GLikely benign
DNAH8
(L3009M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
DNAH8, LOC126859667
(P36S)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia
+1 more
GUncertain significance
DNAH8
(R1737H +1 more)
Single nucleotide variant
(missense variant)
Spermatogenic failure 46
+2 more
GUncertain significance
DNAH8
(D1043E +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+3 more
GConflicting classifications of pathogenicity
DNAH8
(T4608M +1 more)
Single nucleotide variant
(missense variant)
Spermatogenic failure 46
+1 more
GConflicting classifications of pathogenicity
DNAH8, DNAH8-AS1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
+1 more
GBenign
DNAH8
Single nucleotide variant
(intron variant)
Spermatogenic failure 46
+1 more
GLikely benign
DNAH8
(R2592W +1 more)
Single nucleotide variant
(missense variant)
DNAH8-related condition
+2 more
GUncertain significance
DNAH8
(N2375H +1 more)
Single nucleotide variant
(missense variant)
Spermatogenic failure 46
+2 more
GUncertain significance
DNAH8
(I994L +1 more)
Single nucleotide variant
(missense variant)
Spermatogenic failure 46
+1 more
GUncertain significance
DNAH8
(R2957C +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
DNAH8-AS1, DNAH8
(T3924M +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+2 more
GConflicting classifications of pathogenicity
DNAH8
(R242H +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DNAH8
(E1636D +1 more)
Single nucleotide variant
(missense variant)
Spermatogenic failure 46
+1 more
GBenign/Likely benign
DNAH8
(R4687* +1 more)
Single nucleotide variant
(nonsense)
Spermatogenic failure 46
+2 more
GUncertain significance
DNAH8
(I2780T +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+2 more
GBenign/Likely benign
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