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Links from MedGen

Items: 1 to 100 of 103

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RNASEH2B
(S246*)
Single nucleotide variant
(nonsense)
Aicardi Goutieres syndrome
GPathogenic
IFIH1
Single nucleotide variant
(splice acceptor variant)
Aicardi Goutieres syndrome
GLikely pathogenic
SAMHD1
(A441fs)
Deletion
(frameshift variant)
Aicardi Goutieres syndrome
GLikely pathogenic
SAMHD1
(R290H)
Single nucleotide variant
(missense variant)
Aicardi Goutieres syndrome
GLikely pathogenic
SAMHD1
(E479fs)
Deletion
(frameshift variant)
Aicardi Goutieres syndrome
+1 more
GPathogenic/Likely pathogenic
SAMHD1
Duplication
Aicardi Goutieres syndrome
GLikely pathogenic
SAMHD1
Deletion
Aicardi Goutieres syndrome
GPathogenic
RNASEH2B
(Q111*)
Single nucleotide variant
(nonsense)
Aicardi-Goutieres syndrome 2
+1 more
GPathogenic
SAMHD1
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 5
+1 more
GLikely benign
SAMHD1
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 5
GLikely benign
SAMHD1
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 5
GLikely benign
SAMHD1
Single nucleotide variant
(splice donor variant)
Aicardi-Goutieres syndrome 5
GLikely pathogenic
SAMHD1
(C522Y)
Single nucleotide variant
(missense variant +1 more)
Aicardi-Goutieres syndrome 5
GUncertain significance
SAMHD1
(R85H)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 5
GUncertain significance
SAMHD1
(P462T)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 5
GUncertain significance
SAMHD1
(C15G)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 5
GUncertain significance
SAMHD1
(A530T +1 more)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 5
+1 more
GUncertain significance
SAMHD1
(R366C)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 5
GUncertain significance
SAMHD1
(P227L)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 5
GUncertain significance
SAMHD1
Single nucleotide variant
(synonymous variant)
Aicardi Goutieres syndrome
GUncertain significance
SAMHD1
(D540E +1 more)
Single nucleotide variant
(missense variant)
Aicardi Goutieres syndrome
GUncertain significance
SAMHD1
(V491M)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 5
GUncertain significance
SAMHD1
(A76S)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 5
GUncertain significance
SAMHD1
(G152R)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 5
GUncertain significance
SAMHD1
(R333H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SAMHD1
(R408C)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 5
GUncertain significance
SAMHD1
(A4V)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 5
GUncertain significance
SAMHD1
(R97K)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 5
GUncertain significance
SAMHD1
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 5
+1 more
GLikely benign
SAMHD1
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 5
GUncertain significance
SAMHD1
Duplication
(inframe_insertion +1 more)
Aicardi-Goutieres syndrome 5
GUncertain significance
SAMHD1
(R442Q)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 5
+1 more
GConflicting classifications of pathogenicity
SAMHD1
(V301L)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 5
GUncertain significance
SAMHD1
(R134G)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 5
GUncertain significance
SAMHD1
(D361N)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 5
GUncertain significance
SAMHD1
(E188Q)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 5
GUncertain significance
SAMHD1
(R3L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SAMHD1
Single nucleotide variant
(synonymous variant)
SAMHD1-related condition
+2 more
GLikely benign
SAMHD1
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 5
GBenign
SAMHD1
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 5
GLikely benign
SAMHD1
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 5
GLikely benign
SAMHD1
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 5
+1 more
GLikely benign
SAMHD1
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 5
GLikely benign
SAMHD1
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 5
+1 more
GConflicting classifications of pathogenicity
SAMHD1
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 5
GLikely benign
SAMHD1
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 5
GLikely benign
SAMHD1
(K392E)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 5
GUncertain significance
SAMHD1
(P485S)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 5
GUncertain significance
SAMHD1
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 5
GUncertain significance
TLDC2, SAMHD1
(D585N +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Aicardi-Goutieres syndrome 5
GUncertain significance
SAMHD1
(K492fs)
Deletion
(frameshift variant)
Aicardi-Goutieres syndrome 5
+1 more
GPathogenic/Likely pathogenic
SAMHD1
(L204F)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 5
GUncertain significance
SAMHD1
(A181T)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 5
GUncertain significance
SAMHD1
(I245V)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 5
GUncertain significance
SAMHD1
(E277D)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 5
GUncertain significance
SAMHD1
(R348C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RNASEH2A
(T70fs)
Duplication
(frameshift variant)
Aicardi Goutieres syndrome
+2 more
GConflicting classifications of pathogenicity
SAMHD1
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 5
GUncertain significance
SAMHD1
(S482N)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 5
+1 more
GConflicting classifications of pathogenicity
SAMHD1
(I122V)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 5
GUncertain significance
SAMHD1
(I530M)
Single nucleotide variant
(missense variant +1 more)
Aicardi-Goutieres syndrome 5
GUncertain significance
SAMHD1
(A441P)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 5
GUncertain significance
SAMHD1
(I448T)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 5
+2 more
GPathogenic/Likely pathogenic
SAMHD1
(Y155C)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 5
+1 more
GUncertain significance
SAMHD1
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
RNASEH2B
Single nucleotide variant
(splice donor variant)
not provided
+2 more
GLikely pathogenic
SAMHD1
(F165S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATRIP, TREX1
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+2 more
GBenign
ATRIP, ATRIP-TREX1
+1 more
Microsatellite
(non-coding transcript variant +3 more)
Aicardi Goutieres syndrome
+1 more
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
Single nucleotide variant
(non-coding transcript variant +3 more)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
+2 more
GBenign
TREX1, ATRIP
+1 more
Single nucleotide variant
(non-coding transcript variant +2 more)
Aicardi Goutieres syndrome
+1 more
GLikely benign
ATRIP, ATRIP-TREX1
+1 more
Single nucleotide variant
(non-coding transcript variant +2 more)
Aicardi Goutieres syndrome
+1 more
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
Single nucleotide variant
(non-coding transcript variant +2 more)
Aicardi Goutieres syndrome
+1 more
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
Single nucleotide variant
(non-coding transcript variant +2 more)
Aicardi Goutieres syndrome
+1 more
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
Single nucleotide variant
(non-coding transcript variant +2 more)
Aicardi Goutieres syndrome
+1 more
GUncertain significance
TREX1, ATRIP
+1 more
Deletion
(non-coding transcript variant +1 more)
Aicardi Goutieres syndrome
+1 more
GLikely benign
ATRIP, ATRIP-TREX1
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Aicardi Goutieres syndrome
+1 more
GLikely benign
SAMHD1
(P26L)
Single nucleotide variant
(missense variant)
Chilblain lupus 2
+2 more
GConflicting classifications of pathogenicity
SAMHD1
(Q465K)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 5
+1 more
GConflicting classifications of pathogenicity
SAMHD1
(R531S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
RNASEH2A, LOC117038795
Single nucleotide variant
(5 prime UTR variant)
Aicardi Goutieres syndrome
GUncertain significance
LOC117038795, RNASEH2A
Single nucleotide variant
(5 prime UTR variant)
Aicardi Goutieres syndrome
+1 more
GUncertain significance
LOC130009809, RNASEH2B
+1 more
Single nucleotide variant
(5 prime UTR variant)
Aicardi Goutieres syndrome
GUncertain significance
RNASEH2C
(K90del)
Microsatellite
(inframe_deletion)
Aicardi Goutieres syndrome
+2 more
GBenign/Likely benign
RNASEH2C
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 3
+2 more
GUncertain significance
RNASEH2C
Insertion
(3 prime UTR variant)
Aicardi Goutieres syndrome
GUncertain significance
KAT5, RNASEH2C
Duplication
(3 prime UTR variant +1 more)
not provided
+2 more
GBenign/Likely benign
SAMHD1, TLDC2
(R611Q +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
RNASEH2B
(I309fs)
Duplication
(frameshift variant +1 more)
Aicardi Goutieres syndrome
+3 more
GBenign/Likely benign
ATRIP, ATRIP-TREX1
+1 more
Single nucleotide variant
(non-coding transcript variant +2 more)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
+4 more
GBenign
ADAR
(P193A +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
ADAR-Related Disorders
+6 more
GConflicting classifications of pathogenicity
TREX1, ATRIP
+1 more
Deletion
(non-coding transcript variant +2 more)
TREX1-related condition
+6 more
GPathogenic/Likely pathogenic
ATRIP, ATRIP-TREX1
+1 more
(E266G +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Aicardi-Goutieres syndrome 1
+5 more
GConflicting classifications of pathogenicity
ATRIP, ATRIP-TREX1
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Aicardi-Goutieres syndrome 1
+5 more
GBenign
SAMHD1
(R551* +1 more)
Single nucleotide variant
(nonsense)
Aicardi-Goutieres syndrome 5
+1 more
GPathogenic/Likely pathogenic
RNASEH2A
(R186W)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 4
+2 more
GPathogenic/Likely pathogenic
LOC117038795, RNASEH2A
Single nucleotide variant
(synonymous variant)
Aicardi Goutieres syndrome
+2 more
GPathogenic/Likely pathogenic
RNASEH2A
(R235Q)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 4
+1 more
GLikely pathogenic
SAMHD1
(I201N)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
SAMHD1
(R164*)
Single nucleotide variant
(nonsense)
Aicardi-Goutieres syndrome 5
GPathogenic/Likely pathogenic
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