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Items: 44

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129996876, LOC129996877
+1449 more
Copy number gain
See cases
GPathogenic
AKIRIN2, ANKRD6
+299 more
Copy number loss
See cases
GPathogenic
AKIRIN2, ANKRD6
+220 more
Copy number loss
See cases
GPathogenic
SMIM8, SNHG5
+247 more
Copy number loss
See cases
GPathogenic
AKIRIN2, ANKRD6
+157 more
Copy number loss
See cases
GPathogenic
LOC129389576, LOC129389577
+153 more
Copy number loss
See cases
GPathogenic
SPACA1
(W18*)
Single nucleotide variant
(nonsense)
Spermatogenic failure 85
GPathogenic
SPACA1
(T33I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPACA1
(N54H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPACA1
(N61S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPACA1
(R73K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPACA1
(V79A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPACA1
(G82R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPACA1
(M83L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPACA1
(T85A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPACA1
(V134L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPACA1
(K148T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPACA1
(M150V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPACA1
(E171K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPACA1
(S176N)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SPACA1
(D184G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPACA1
(L186Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPACA1
(M207T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPACA1
(S211N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPACA1
(I228T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPACA1
(I229T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPACA1
(C230Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPACA1
(L237W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPACA1
(K248N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPACA1
(A253T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPACA1
(S265R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPACA1
(V267G)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SPACA1
(M282V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKIRIN2, ANKRD6
+24 more
Copy number loss
not provided
GPathogenic
AKIRIN2, ANKRD6
+65 more
Copy number loss
See cases
GUncertain significance
AFG1L, AK9
+138 more
Copy number loss
not specified
GPathogenic
BACH2, ADGRB3
+88 more
Copy number gain
not specified
GPathogenic
CNR1, SPACA1
Copy number gain
See cases
GUncertain significance
CNR1, SLC35A1
+23 more
Copy number loss
not provided
GPathogenic
AKIRIN2, ANKRD6
+26 more
Copy number loss
not provided
GUncertain significance
AKIRIN2, ANKRD6
+56 more
Copy number gain
not provided
GPathogenic
AKIRIN2, ANKRD6
+44 more
Deletion
not provided
GPathogenic
AARS2, ABCC10
+1028 more
Copy number gain
See cases
GPathogenic
RING1, RIOK1
+1028 more
Copy number gain
See cases
GPathogenic
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