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Links from MedGen

Items: 34

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
C1S
(M1T)
Single nucleotide variant
(5 prime UTR variant +2 more)
Ehlers-Danlos syndrome, periodontal type 2
GLikely pathogenic
C1S
(S172A +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, periodontal type 2
GUncertain significance
C1S
(I103T +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, periodontal type 2
GUncertain significance
C1S
(Y127C)
Single nucleotide variant
(5 prime UTR variant +1 more)
Ehlers-Danlos syndrome, periodontal type 2
GUncertain significance
C1S
(G243R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C1S
(R523* +1 more)
Single nucleotide variant
(nonsense)
Ehlers-Danlos syndrome, periodontal type 2
+1 more
GPathogenic
C1S
(S172L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
C1S
(R164C +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
C1S
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
C1S
(N116S)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
C1S
(I42V)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, periodontal type 2
+2 more
GConflicting classifications of pathogenicity
C1S
(E233Q +1 more)
Single nucleotide variant
(missense variant)
Complement component C1s deficiency
+3 more
GConflicting classifications of pathogenicity
C1S
(S213F +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
C1S
(S34G)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
C1S
(V160L +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GLikely benign
C1S
(D315N +1 more)
Single nucleotide variant
(missense variant)
Complement component C1s deficiency
+2 more
GConflicting classifications of pathogenicity
C1S
(G172R +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
C1R
(W435R +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, periodontal type 1
GPathogenic
C1R
Indel
(inframe_indel)
Ehlers-Danlos syndrome, periodontal type 1
GPathogenic
C1R
(C371W +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, periodontal type 1
GPathogenic
C1R
(W364C +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, periodontal type 1
GPathogenic
C1R
(C338R +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, periodontal type 1
GPathogenic
C1R
(Y302C +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, periodontal type 1
GPathogenic
C1R
(V50D +1 more)
Indel
(missense variant)
Ehlers-Danlos syndrome, periodontal type 1
GPathogenic
C1R, C1RL
(G297D +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, periodontal type 1
GPathogenic/Likely pathogenic
C1R
(D290G +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, periodontal type 1
GPathogenic
C1R
Indel
(inframe_indel)
Ehlers-Danlos syndrome, periodontal type 1
GPathogenic
C1R
(L300P +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, periodontal type 1
GPathogenic
C1R
(C309W +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, periodontal type 1
GPathogenic
C1R
(R301P +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, periodontal type 1
GPathogenic
C1R
(C358F +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, periodontal type 1
GPathogenic
C1S
(C294R +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, periodontal type 1
GPathogenic
C1S
Deletion
(inframe_indel)
Ehlers-Danlos syndrome, periodontal type 1
GPathogenic
C1S
(R534W +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
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