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Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SAMHD1
(Q548* +1 more)
Single nucleotide variant
(nonsense)
Aicardi-Goutieres syndrome 5
GPathogenic
SAMHD1
Single nucleotide variant
(splice acceptor variant)
Aicardi-Goutieres syndrome 5
GUncertain significance
LOC130065805, SAMHD1
Deletion
Aicardi-Goutieres syndrome 5
GPathogenic
SAMHD1
Single nucleotide variant
(splice donor variant)
Aicardi-Goutieres syndrome 5
Gnot provided
SAMHD1
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic
SAMHD1
(R442*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
SAMHD1
(M385V)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 5
GUncertain significance
SAMHD1
(L369S)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 5
Gnot provided
SAMHD1
(M254V)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 5
GPathogenic
SAMHD1
(F217fs)
Insertion
(frameshift variant)
Aicardi-Goutieres syndrome 5
GPathogenic
SAMHD1
(G209S)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 5
GLikely pathogenic
SAMHD1
(I201N)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
SAMHD1
(Q149*)
Single nucleotide variant
(nonsense)
Aicardi-Goutieres syndrome 5
GPathogenic
SAMHD1
(R145Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SAMHD1
(R145*)
Single nucleotide variant
(nonsense)
Chilblain lupus 2
+1 more
GPathogenic
SAMHD1
(R143H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
SAMHD1
(R143C)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 5
GLikely pathogenic
SAMHD1
Deletion
(inframe_deletion)
Aicardi-Goutieres syndrome 5
Gnot provided
SAMHD1
(H123P)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 5
GPathogenic
LOC130065805, SAMHD1
Deletion
Aicardi-Goutieres syndrome 5
GPathogenic
SAMHD1
Deletion
Aicardi-Goutieres syndrome 5
GPathogenic
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