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Items: 40

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130065884, LOC130065885
+2522 more
Copy number gain
See cases
GPathogenic
AAR2, ACOT8
+568 more
Copy number loss
See cases
GPathogenic
FITM2
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
FITM2
(D258E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FITM2
(D258G)
Single nucleotide variant
(missense variant)
FITM2-related condition
+1 more
GLikely benign
FITM2
Single nucleotide variant
(synonymous variant)
FITM2-related condition
GLikely benign
FITM2
(P239L)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
FITM2
(G232R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FITM2
(Q218*)
Single nucleotide variant
(nonsense)
Siddiqi syndrome
GPathogenic
FITM2
(V193fs)
Deletion
(frameshift variant)
Siddiqi syndrome
GLikely pathogenic
FITM2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FITM2
(A163T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FITM2
(V130F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FITM2
(E128K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FITM2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FITM2
(T118M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FITM2
Single nucleotide variant
(synonymous variant)
FITM2-related condition
GBenign
FITM2
Single nucleotide variant
(synonymous variant)
FITM2-related condition
GLikely benign
FITM2
(W67*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
FITM2
(A64S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FITM2
Microsatellite
(intron variant)
not provided
GLikely benign
FITM2
Single nucleotide variant
(intron variant)
not provided
GBenign
FITM2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FITM2
(L49H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FITM2
(K39R)
Single nucleotide variant
(missense variant)
FITM2-related condition
GBenign
FITM2
(L38V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FITM2
(M32I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
FITM2
(R17Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FITM2
(T14fs)
Duplication
(frameshift variant)
Siddiqi syndrome
GPathogenic
FITM2
(C7*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
FITM2
(E2*)
Single nucleotide variant
(nonsense)
Siddiqi syndrome
GPathogenic
FITM2
(M1L)
Single nucleotide variant
(missense variant +1 more)
Siddiqi syndrome
GLikely pathogenic
FITM2
(M1V)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
FITM2
Single nucleotide variant
not provided
GBenign
GDAP1L1, GTSF1L
+60 more
Deletion
Combined immunodeficiency due to STK4 deficiency
GPathogenic
R3HDML, OSER1
+4 more
Copy number loss
not provided
GPathogenic
ACOT8, ACTR5
+124 more
Deletion
Focal-onset seizure
GLikely pathogenic
PKIG, R3HDML
+6 more
Copy number gain
not provided
GUncertain significance
AAR2, ABHD12
+540 more
Copy number gain
See cases
GPathogenic
DZANK1, E2F1
+540 more
Copy number gain
See cases
GPathogenic
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