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Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDHA2
(I6F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDHA2
(R8S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDHA2
(V9M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDHA2
(A18V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDHA2
(V21E)
Single nucleotide variant
(missense variant)
not provided
GBenign
PDHA2
(A32V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDHA2
(G101R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDHA2
(G105S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDHA2
(Y116C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDHA2
(R125W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDHA2
(E186K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDHA2
(T190A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDHA2
(T190P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDHA2
(I202V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDHA2
(N222D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDHA2
(M227V)
Single nucleotide variant
(missense variant)
Spermatogenic failure 70
+2 more
GPathogenic
PDHA2
(P248S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDHA2
(R286P)
Single nucleotide variant
(missense variant)
not provided
GBenign
PDHA2
(G289A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDHA2
(A347G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDHA2
(S371T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDHA2
(V387F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDHA2
Copy number loss
not provided
GUncertain significance
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