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Items: 45

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CYP39A1, DAAM2
+2577 more
Copy number gain
See cases
GPathogenic
LOC129995913, LOC129995914
+1340 more
Copy number gain
See cases
GPathogenic
TRIM31
(E410*)
Single nucleotide variant
(nonsense +1 more)
not provided
GLikely benign
TRIM31
(A399V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRIM31
(P350A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRIM31
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
TRIM31
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TRIM31
(A341V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRIM31
(M317T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRIM31
(F308Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRIM31, TRIM31-AS1
(P269S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRIM31, TRIM31-AS1
(S257G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRIM31, TRIM31-AS1
(V253I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRIM31, TRIM31-AS1
(Q245P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRIM31, TRIM31-AS1
(Q245R)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
TRIM31, TRIM31-AS1
(K236R)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
TRIM31, TRIM31-AS1
(L235P)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
TRIM31, TRIM31-AS1
(A213V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRIM31, TRIM31-AS1
(T211A)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
TRIM31, TRIM31-AS1
(Y204S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRIM31, TRIM31-AS1
(L199M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRIM31, TRIM31-AS1
(L187F)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
TRIM31, TRIM31-AS1
(E175D)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
TRIM31, TRIM31-AS1
(L149S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRIM31, TRIM31-AS1
(V148A)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
TRIM31, TRIM31-AS1
(N127K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRIM31, TRIM31-AS1
(N127D)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
TRIM31, TRIM31-AS1
(G110R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRIM31, TRIM31-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TRIM31, TRIM31-AS1
(M101I)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
TRIM31, TRIM31-AS1
(E100K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRIM31, TRIM31-AS1
(E92D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126859641, TRIM31
+1 more
(K91R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126859641, TRIM31
+1 more
(Q87R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126859641, TRIM31
+1 more
(R72W)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
LOC126859641, TRIM31
+1 more
(P17R)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
LOC126859641, TRIM31
+1 more
(F6L)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
LOC126859641, TRIM31
+1 more
(Q5H)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
HCG17, HLA-A
+9 more
Copy number gain
not provided
GUncertain significance
GABBR1, HCG17
+23 more
Copy number gain
not provided
GUncertain significance
ABCF1, ABHD16A
+106 more
Deletion
Megacolon
GLikely pathogenic
LRRC1, LRRC73
+427 more
Copy number gain
not provided
GPathogenic
AIRN, BNIP5
+1028 more
Copy number gain
See cases
GPathogenic
PDE10A, PDE7B
+1028 more
Copy number gain
See cases
GPathogenic
HLA-A, POLR1H
+3 more
Complex
Breast ductal adenocarcinoma
GUncertain significance
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