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Links from MedGen

Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC108281134, SOX3
(R22G)
Single nucleotide variant
(missense variant)
Abnormal sperm morphology
+2 more
GUncertain significance
FAM83F
(R224H)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
PNLDC1
(G237D +1 more)
Single nucleotide variant
(missense variant)
Oligospermia
+1 more
GLikely pathogenic
MSH4
(S754L)
Single nucleotide variant
(missense variant)
Oligospermia
+2 more
GPathogenic/Likely pathogenic
KIF3B
Single nucleotide variant
(synonymous variant)
Oligospermia
Gassociation
TBC1D25
Single nucleotide variant
Oligospermia
GLikely pathogenic
HOXD13
(R274*)
Single nucleotide variant
(nonsense)
Synpolydactyly
+13 more
GPathogenic/Likely pathogenic
Translocation
Attention deficit hyperactivity disorder
+14 more
GUncertain significance
Translocation
Attention deficit hyperactivity disorder
+5 more
GUncertain significance
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