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Items: 90

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADGRB3, ADGRB3-DT
+310 more
Copy number loss
See cases
GPathogenic
LOC129996876, LOC129996877
+1449 more
Copy number gain
See cases
GPathogenic
FILIP1, LOC126859714
+1 more
Deletion
Neuromuscular disorder, congenital, with dysmorphic facies
GPathogenic
FILIP1
(G1213V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FILIP1
(G1210A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FILIP1
(M1162L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1
(G1150A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1
(T1142N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1
(P1133L +1 more)
Single nucleotide variant
(missense variant)
Neuromuscular disorder, congenital, with dysmorphic facies
GPathogenic
FILIP1
(T1126M +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
FILIP1
(P1120R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1
(R1113G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1
(G1106R +1 more)
Single nucleotide variant
(missense variant)
Abnormality of neuronal migration
GBenign
FILIP1
(R1034Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1
(R1037W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1
(M1032V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1
(M1010R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1
(P1006S +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
FILIP1
(G998R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1
(M978I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1
(M964I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1
(N959K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1
(R889* +1 more)
Single nucleotide variant
(nonsense)
Neuromuscular disorder, congenital, with dysmorphic facies
GPathogenic
FILIP1
(R842Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1
(R825W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1
(G815S +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
FILIP1
(V805A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1
(T801M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1
(R781C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
FILIP1
(I694T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1
(E686D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1
(V649A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1
(T611I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1
(L603F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1
(K597R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1
(G577S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1
(M561I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1
(I551T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1
(D499E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1
(K495E +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
FILIP1
(L438S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1
(R422S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1
(R386H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1
(R386C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1
(M380V +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
FILIP1
(R363K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1
(E364G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1
(S308L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1
(E304K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
FILIP1
(M252L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1
(L243F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1
(A233V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1
(E219A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1
(K216T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1
(D201N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1
(N198H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1
(R178H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1
(R180K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FILIP1
(R167H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1
(E155* +1 more)
Single nucleotide variant
(nonsense)
Neuromuscular disorder, congenital, with dysmorphic facies
GPathogenic
FILIP1, LOC126859714
(P147L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1, LOC126859714
(I142T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1, LOC126859714
(R128W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1, LOC126859714
(M103V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1, LOC101928540
(I81N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1, LOC101928540
(R70P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1, LOC101928540
(R57* +1 more)
Single nucleotide variant
(nonsense)
Neuromuscular disorder, congenital, with dysmorphic facies
GPathogenic
FILIP1, LOC101928540
(R57G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1, LOC101928540
(V55D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1, LOC101928540
(G53R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1, LOC101928540
(R47K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1, LOC101928540
(G25S +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
FILIP1, LOC101928540
(A11T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL12A1, COX7A2
+5 more
Duplication
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
ADGRB3, B3GAT2
+32 more
Copy number loss
Chromosome 6q11-q14 deletion syndrome
GPathogenic
COL12A1, COX7A2
+4 more
Copy number gain
not specified
GUncertain significance
BACH2, ADGRB3
+88 more
Copy number gain
not specified
GPathogenic
FILIP1
Copy number loss
not provided
GLikely benign
BCKDHB, CD109
+31 more
Copy number loss
not provided
GPathogenic
B3GAT2, CD109
+31 more
Copy number loss
not provided
GPathogenic
IRAK1BP1, CD109
+13 more
Copy number loss
not provided
GPathogenic
SENP6, FILIP1
+1 more
Copy number gain
not provided
GUncertain significance
TMEM30A, SENP6
+3 more
Copy number gain
not provided
GUncertain significance
ERVH-3, ETV7
+427 more
Copy number gain
not provided
GPathogenic
BCKDHB, CD109
+40 more
Copy number loss
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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