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Items: 75

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACAD10, ACADS
+4836 more
Copy number gain
See cases
GPathogenic
AVPR1A, C12orf56
+144 more
Copy number loss
See cases
GPathogenic
DPY19L2, LOC108720144
+1 more
Duplication
Preeclampsia
Gnot provided
LOC130008194, DPY19L2
Copy number loss
Premature ovarian failure
GBenign
DPY19L2, LOC130008194
Copy number gain
See cases
GBenign
DPY19L2, LOC130008194
Copy number loss
See cases
GBenign
DPY19L2, LOC130008194
Copy number loss
See cases
GBenign/Likely benign
DPY19L2, LOC130008194
Copy number gain
See cases
GBenign/Likely benign
DPY19L2, LOC130008194
Deletion
Spermatogenic failure 9
GPathogenic
DPY19L2
(A739T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DPY19L2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DPY19L2
(D738H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DPY19L2
(P729S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DPY19L2
(R707T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DPY19L2
(K688N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DPY19L2
(K680*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
DPY19L2
(R669Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DPY19L2
(R606C)
Single nucleotide variant
(missense variant)
Spermatogenic failure 9
GUncertain significance
DPY19L2
(I599M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DPY19L2
(I593V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DPY19L2
(I590F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DPY19L2
(L556Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DPY19L2
(L549I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DPY19L2
(H539R)
Single nucleotide variant
(missense variant)
Spermatogenic failure 9
GUncertain significance
DPY19L2
(I524F)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
DPY19L2
(K510E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DPY19L2
(A487V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DPY19L2
(T472S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DPY19L2
(T468R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DPY19L2
(K446Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DPY19L2
(A432T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DPY19L2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DPY19L2
Single nucleotide variant
(splice donor variant)
Spermatogenic failure 9
GPathogenic
DPY19L2
(T405S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DPY19L2
(S395fs)
Deletion
(frameshift variant)
Spermatogenic failure 9
GPathogenic
DPY19L2
(M392T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DPY19L2
(G389E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DPY19L2
(R325S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DPY19L2
(D323G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DPY19L2
(F305C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DPY19L2
Single nucleotide variant
(missense variant)
Spermatogenic failure 9
GPathogenic
DPY19L2
(R298C)
Single nucleotide variant
(missense variant)
Spermatogenic failure 9
GPathogenic
DPY19L2
(T294A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DPY19L2
(R290P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DPY19L2
(R290H)
Single nucleotide variant
(missense variant)
Spermatogenic failure 9
GPathogenic
DPY19L2, LOC130008194
Copy number gain
See cases
GBenign
DPY19L2
Duplication
(intron variant)
not specified
GBenign
DPY19L2
(P241L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DPY19L2
(V232I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DPY19L2
(Y194F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DPY19L2
(R190C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DPY19L2
(I184L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DPY19L2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DPY19L2
(P164R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DPY19L2
Duplication
(intron variant)
not provided
GBenign
DPY19L2
(R132H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DPY19L2
(S106R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DPY19L2
(E98*)
Single nucleotide variant
(nonsense)
not provided
GBenign
DPY19L2
(A90V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DPY19L2
(P81L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DPY19L2
(G80D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DPY19L2
(K75E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DPY19L2
(P31R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DPY19L2
(R23C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DPY19L2
(R10W)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
DPY19L2
(R2T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DPY19L2
Deletion
Spermatogenic failure 9
GUncertain significance
AVPR1A, C12orf56
+40 more
Copy number loss
not provided
GPathogenic
DPY19L2
Deletion
not provided
GPathogenic
SLC15A5, SLC16A7
+1006 more
Copy number gain
See cases
GPathogenic
A2M, A2ML1
+1006 more
Copy number gain
See cases
GPathogenic
DPY19L2
Copy number loss
See cases
GLikely benign
GALNT8, H2AJ
+1007 more
Copy number gain
See cases
GPathogenic
DPY19L2
Copy number gain
Premature ovarian failure
GBenign
DPY19L2
Deletion
Spermatogenic failure 9
GPathogenic
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