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Links from MedGen

Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
USP9Y
(R419H)
Single nucleotide variant
(missense variant)
Spermatogenic failure, Y-linked, 2
GUncertain significance
USP9Y
(V1281A)
Single nucleotide variant
(missense variant)
Spermatogenic failure, Y-linked, 2
GUncertain significance
USP9Y
(Q592fs)
Deletion
(frameshift variant)
Spermatogenic failure, Y-linked, 2
GUncertain significance
USP9Y
(R2283fs)
Duplication
(frameshift variant)
Spermatogenic failure, Y-linked, 2
GUncertain significance
USP9Y
(G2115C)
Single nucleotide variant
(missense variant)
Spermatogenic failure, Y-linked, 2
GUncertain significance
USP9Y
(T1975I)
Single nucleotide variant
(missense variant)
Spermatogenic failure, Y-linked, 2
GUncertain significance
USP9Y
(L1279V)
Single nucleotide variant
(missense variant)
Spermatogenic failure, Y-linked, 2
GUncertain significance
CFTR
(R153K)
Single nucleotide variant
(missense variant)
Spermatogenic failure, Y-linked, 2
+5 more
GConflicting classifications of pathogenicity
USP9Y
Microsatellite
(splice donor variant)
Spermatogenic failure, Y-linked, 2
GPathogenic
CFTR
(N1303K)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GPathogenic
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