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Links from MedGen

Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNAH17
Single nucleotide variant
(splice donor variant)
Spermatogenic failure 39
GLikely pathogenic
DNAH17, DNAH17-AS1
+1 more
(A2130V)
Single nucleotide variant
(non-coding transcript variant +1 more)
Spermatogenic failure 39
GUncertain significance
DNAH17, LOC126862656
(E957*)
Single nucleotide variant
(nonsense)
Spermatogenic failure 39
GLikely pathogenic
DNAH17, DNAH17-AS1
(E2382Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DNAH17, DNAH17-AS1
+1 more
(A2103V +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Spermatogenic failure 39
GPathogenic
DNAH17, DNAH17-AS1
(R1903C)
Single nucleotide variant
(non-coding transcript variant +1 more)
Spermatogenic failure 39
GPathogenic
DNAH17, DNAH17-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Spermatogenic failure 39
GPathogenic
DNAH17
Single nucleotide variant
(synonymous variant)
Spermatogenic failure 39
+1 more
GLikely benign
DNAH17
(P3499L +1 more)
Single nucleotide variant
(missense variant)
Spermatogenic failure 39
GLikely pathogenic
DNAH17
(G2665fs)
Deletion
(frameshift variant)
Spermatogenic failure 39
GPathogenic
DNAH17
Microsatellite
(nonsense)
Spermatogenic failure 39
GPathogenic
DNAH17, DNAH17-AS1
(C1829Y)
Single nucleotide variant
(non-coding transcript variant +1 more)
Spermatogenic failure 39
GPathogenic
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