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Items: 32

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
C1S
(A11V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
C1S
(E16V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
C1S
(Q30E)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
C1S
(I42V)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, periodontal type 2
+2 more
GConflicting classifications of pathogenicity
C1S
(S87C)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
C1S
(H92Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
C1S
(T130I)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
C1S
(I132V)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
C1S
(D166G)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
C1S
(A182S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
C1S
(R40Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
C1S
(A227V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
C1S
(A231V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
C1S
(G232R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
C1S
(P126R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
C1S
(N301T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
C1S
(N301S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
C1S
(W304R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
C1S
(G360V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
C1S
(D205Y +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
C1S
(P389T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
C1S
(E233Q +1 more)
Single nucleotide variant
(missense variant)
Complement component C1s deficiency
+3 more
GConflicting classifications of pathogenicity
C1S
(F449L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
C1S
(W284G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
C1S
(R314G +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
C1S
(P505T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
C1S
(D527G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
C1S
(R578H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
C1S
(R581H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
C1S
(E434G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
C1S
(E441D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
C1S
(R519H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
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