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Items: 1 to 100 of 185

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AADAT, ABCE1
+1310 more
Copy number gain
See cases
GPathogenic
AADAT, ABCE1
+1245 more
Copy number gain
See cases
GPathogenic
QKILA, RAB33B
+1102 more
Copy number gain
See cases
GPathogenic
LOC129993091, LOC129993092
+1068 more
Copy number gain
See cases
GPathogenic
LOC132090717, LOC132090718
+1051 more
Copy number gain
See cases
GPathogenic
LOC129993335, LOC129993336
+1026 more
Copy number gain
See cases
GPathogenic
AADAT, ABCE1
+903 more
Copy number gain
See cases
GPathogenic
LOC123493228, LOC123493229
+481 more
Copy number gain
See cases
GPathogenic
ARFIP1, ASIC5
+210 more
Copy number loss
See cases
GLikely pathogenic
LOC129993250, LOC129993251
+115 more
Copy number gain
See cases
GLikely pathogenic
DCHS2, FGA
+38 more
Copy number loss
See cases
GPathogenic
ASIC5, CTSO
+45 more
Copy number loss
not provided
GUncertain significance
FGG
Single nucleotide variant
Congenital afibrinogenemia
+1 more
GBenign
FGG
Single nucleotide variant
(3 prime UTR variant)
Congenital afibrinogenemia
GLikely benign
FGG
Single nucleotide variant
(3 prime UTR variant)
not specified
+1 more
GUncertain significance
FGG
Single nucleotide variant
(3 prime UTR variant)
Congenital afibrinogenemia
+1 more
GUncertain significance
FGG
Single nucleotide variant
(synonymous variant +1 more)
Congenital afibrinogenemia
GUncertain significance
FGG
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
FGG
(A434S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FGG
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
FGG
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
FGG
Single nucleotide variant
(synonymous variant +1 more)
not specified
GLikely benign
FGG
(A440V)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
FGG
(V434F)
Single nucleotide variant
(missense variant +1 more)
Congenital afibrinogenemia
GUncertain significance
FGG
(A431fs)
Duplication
(frameshift variant)
not provided
GLikely pathogenic
FGG
(G429W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FGG
(Q425K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FGG
(I420V)
Single nucleotide variant
(missense variant)
Congenital afibrinogenemia
GUncertain significance
FGG
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
FGG
(F415fs)
Deletion
(frameshift variant)
Congenital afibrinogenemia
+1 more
GLikely pathogenic
FGG
(I413V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FGG
(S404P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FGG
(W402R)
Single nucleotide variant
(missense variant)
FGG-related disorder
GUncertain significance
FGG
(R401Q)
Single nucleotide variant
(missense variant)
Congenital afibrinogenemia
GUncertain significance
FGG
(R401W)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 4
GPathogenic
FGG
(R401G)
Single nucleotide variant
(missense variant)
FIBRINOGEN OSAKA 5
Gother
FGG
(T400S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
FGG
(T397I)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
FGG
(N391I)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
FGG
(D390H)
Single nucleotide variant
(missense variant)
FIBRINOGEN MATSUMOTO 1
Gother
FGG
(N387K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FGG
(A383P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FGG
(Y380N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FGG
(G377V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FGG
Single nucleotide variant
(intron variant)
not provided
GBenign
FGG
Single nucleotide variant
(intron variant)
not provided
GBenign
FGG
Single nucleotide variant
(intron variant)
Congenital afibrinogenemia
+2 more
GConflicting classifications of pathogenicity
FGG
Single nucleotide variant
(intron variant)
not provided
GBenign
FGG
Microsatellite
(intron variant)
not provided
GUncertain significance
FGG
Single nucleotide variant
(intron variant)
not provided
GBenign
FGG
Single nucleotide variant
(synonymous variant)
Congenital afibrinogenemia
GUncertain significance
FGG
(A367T)
Single nucleotide variant
(missense variant)
Hypofibrinogenemia
+3 more
GConflicting classifications of pathogenicity
FGG
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
FGG
(N363D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FGG
(M362I)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
FGG
(D356G)
Single nucleotide variant
(missense variant)
Familial dysfibrinogenemia
GLikely pathogenic
FGG
(D356V)
Single nucleotide variant
(missense variant)
FIBRINOGEN MILANO 1
Gother
FGG
(D356Y)
Single nucleotide variant
(missense variant)
FIBRINOGEN KYOTO 3
Gother
FGG
(Q355R)
Single nucleotide variant
(missense variant)
FIBRINOGEN NAGOYA 1
Gother
FGG
(D346G)
Single nucleotide variant
(missense variant)
Familial dysfibrinogenemia
GLikely pathogenic
FGG
Microsatellite
(inframe_deletion)
FIBRINOGEN VLISSINGEN 1
Gother
FGG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FGG
(N345H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FGG
(D344H)
Single nucleotide variant
(missense variant)
Familial dysfibrinogenemia
GLikely pathogenic
FGG
(D344N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely pathogenic
FGG
(D342N)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
FGG
(W341*)
Single nucleotide variant
(nonsense)
Congenital afibrinogenemia
GPathogenic
FGG
(T340I)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
FGG
(S339R)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
FGG
(S339G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FGG
(M336T)
Single nucleotide variant
(missense variant)
Familial dysfibrinogenemia
+2 more
GPathogenic/Likely pathogenic
FGG
(M336L)
Single nucleotide variant
(missense variant)
Familial dysfibrinogenemia
GLikely pathogenic
FGG
(N334K)
Single nucleotide variant
(missense variant)
FIBRINOGEN KYOTO 1
Gother
FGG
(N334I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FGG
(H333Y)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
FGG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FGG
(F321fs)
Deletion
(frameshift variant)
Hypofibrinogenemia
GLikely pathogenic
FGG
(G318V)
Single nucleotide variant
(missense variant)
FGG-related disorder
+1 more
GUncertain significance; other
FGG
(G318S)
Single nucleotide variant
(missense variant)
Hypofibrinogenemia
GUncertain significance
FGG
(G318R)
Single nucleotide variant
(missense variant)
FIBRINOGEN GIESSEN 4
Gother
FGG
(G309D)
Single nucleotide variant
(missense variant)
FIBRINOGEN HILLSBOROUGH
Gother
FGG
(A308T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FGG
Single nucleotide variant
(synonymous variant)
not provided
GBenign
FGG
(R301H)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
FGG
(R301S)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
FGG
(R301C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
FGG
(K299Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FGG
(A289V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FGG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FGG
(Q265*)
Single nucleotide variant
(nonsense)
Afibrinogenemia
GUncertain significance
FGG
(I262K)
Single nucleotide variant
(missense variant)
FGG-related disorder
GUncertain significance
FGG
(E257A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FGG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FGG
Single nucleotide variant
(synonymous variant)
FGG-related disorder
GLikely benign
FGG
(K238R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FGG
(Y237H)
Single nucleotide variant
(missense variant)
Familial dysfibrinogenemia
+1 more
GConflicting classifications of pathogenicity
FGG
(W234C)
Single nucleotide variant
(missense variant)
Congenital afibrinogenemia
+1 more
GUncertain significance
FGG
(W234R)
Single nucleotide variant
(missense variant)
Congenital afibrinogenemia
GUncertain significance
FGG
(K232E)
Single nucleotide variant
(missense variant)
Congenital afibrinogenemia
GUncertain significance
FGG
(K231E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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