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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TEX14
(L1420F +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
TEX14
Single nucleotide variant
(splice acceptor variant)
Spermatogenic failure 23
+1 more
GConflicting classifications of pathogenicity
TEX14
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TEX14
Single nucleotide variant
(intron variant)
not provided
GBenign
TEX14
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TEX14
(V462L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
TEX14
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TEX14
(R341* +1 more)
Single nucleotide variant
(nonsense)
Non-obstructive azoospermia
+3 more
GConflicting classifications of pathogenicity
TEX14
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TEX14
(Q237E +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TEX14
(R136C)
Single nucleotide variant
(missense variant)
not provided
GBenign
AKAP1, APPBP2
+54 more
Duplication
Familial aplasia of the vermis
+1 more
GUncertain significance
C17orf47, HSF5
+5 more
Duplication
Fanconi anemia complementation group O
GUncertain significance
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