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Links from Gene

Items: 63

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MFN1
(V669E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MFN1
(I67T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MFN1
(N359D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MFN1
(V78M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MFN1
(E639K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MFN1
(V617L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MFN1
(T571M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MFN1
(H510R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MFN1
(I449L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCC5, ABCF3
+145 more
Duplication
not provided
GPathogenic
MUC20, MUC4
+286 more
Duplication
not provided
GPathogenic
MFN1
(E416K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MFN1
(R253H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MFN1
(R279H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MFN1
(H10Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MFN1
(D459N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MFN1
(M413V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MFN1
(L536W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MFN1
(E727K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MFN1
(A312S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MFN1
(C327R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MFN1
(A467T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MFN1
(I354M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MFN1
(H493L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MFN1
(L531V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MFN1
(K500E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MFN1
(V201I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MFN1
(C428Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MFN1
(D356Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MFN1
(S596F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MFN1
(R159C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC50, MELTF
+155 more
Copy number gain
Isolated anorectal malformation
GLikely pathogenic
GNB4, KCNMB3
+3 more
Copy number gain
not specified
GUncertain significance
ACTL6A, ACTRT3
+79 more
Copy number gain
not specified
GPathogenic
GNB4, KCNMB3
+3 more
Duplication
Cowden syndrome
GUncertain significance
ACTL6A, ACTRT3
+40 more
Copy number gain
not provided
GLikely pathogenic
ABCC5, ABCF3
+82 more
Copy number gain
not provided
GPathogenic
MRPL47, DNAJC19
+12 more
Copy number loss
not provided
GPathogenic
FXR1, HTR3D
+113 more
Copy number gain
not provided
GPathogenic
MFN1
(R226Q)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
ZNF639, ACTL6A
+7 more
Copy number gain
See cases
GUncertain significance
ZNF639, ACTL6A
+5 more
Copy number gain
not provided
GUncertain significance
GNB4, ZNF639
+3 more
Copy number gain
not provided
GLikely benign
ACTL6A, GNB4
+6 more
Copy number gain
See cases
GUncertain significance
HHLA2, HIGD1A
+1054 more
Copy number gain
See cases
GPathogenic
A4GNT, AADAC
+1054 more
Copy number gain
See cases
GPathogenic
KCNMB3, MFN1
+2 more
Copy number gain
See cases
GUncertain significance
ABCC5, ABCF3
+198 more
Copy number gain
See cases
GPathogenic
AADAC, AADACL2
+220 more
Copy number gain
See cases
GPathogenic
ALG3, AP2M1
+280 more
Duplication
Currarino triad
GLikely pathogenic
ACTL6A, GNB4
+51 more
Copy number gain
See cases
GLikely benign
LOC129938260, LOC129938261
+1064 more
Copy number gain
See cases
GPathogenic
LOC108281160, LOC108281177
+1247 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCC5-AS1
+627 more
Copy number gain
See cases
GLikely pathogenic
ABCC5, ABCC5-AS1
+1245 more
Copy number gain
See cases
GPathogenic
LOC129938169, LOC129938170
+1318 more
Copy number gain
See cases
GPathogenic
ACTL6A, ACTRT3
+306 more
Copy number gain
See cases
GPathogenic
ZMAT3, ZNF639
+867 more
Copy number gain
See cases
GPathogenic
LOC129938282, LOC129938283
+866 more
Copy number gain
See cases
GPathogenic
LOC129938077, LOC129938078
+1041 more
Copy number gain
See cases
GPathogenic
LOC115995524, LOC115995525
+2647 more
Copy number gain
See cases
GPathogenic
LOC132088897, LOC132088898
+1201 more
Copy number gain
See cases
GPathogenic
LOC123453201, LOC123453202
+1450 more
Copy number gain
See cases
GPathogenic
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