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Links from MedGen

Items: 81

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATRX
(G1179S +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonic facies syndrome, X-linked, 1
GUncertain significance
ATRX
(G1818D +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonic facies syndrome, X-linked, 1
GUncertain significance
ATRX
(A186V +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonic facies syndrome, X-linked, 1
GLikely pathogenic
ATRX
(L134fs)
Duplication
(frameshift variant +1 more)
Intellectual disability-hypotonic facies syndrome, X-linked, 1
GPathogenic
ATRX
(G749A +1 more)
Single nucleotide variant
(missense variant)
Acquired hemoglobin H disease
+2 more
GUncertain significance
ATRX
(L215S +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonic facies syndrome, X-linked, 1
+1 more
GLikely pathogenic
ATRX
(W1963C +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonic facies syndrome, X-linked, 1
GUncertain significance
ATRX
(K1066E +1 more)
Single nucleotide variant
(missense variant)
Alpha thalassemia-X-linked intellectual disability syndrome
+1 more
GConflicting classifications of pathogenicity
ATRX
(S2005P +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonic facies syndrome, X-linked, 1
GLikely pathogenic
ATRX
(M2418fs +1 more)
Duplication
(frameshift variant)
Intellectual disability-hypotonic facies syndrome, X-linked, 1
GPathogenic
ATRX
(R663C +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonic facies syndrome, X-linked, 1
GUncertain significance
ATRX
Deletion
(splice acceptor variant +1 more)
Intellectual disability-hypotonic facies syndrome, X-linked, 1
GPathogenic
HUWE1
(D188N +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonic facies syndrome, X-linked, 1
GUncertain significance
ATRX
(N1730Y +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonic facies syndrome, X-linked, 1
GUncertain significance
ATRX
(T451I +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonic facies syndrome, X-linked, 1
GUncertain significance
ATRX
(G1330V +1 more)
Single nucleotide variant
(missense variant)
Alpha thalassemia-X-linked intellectual disability syndrome
+1 more
GUncertain significance
ATRX
(A2318T +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonic facies syndrome, X-linked, 1
+1 more
GUncertain significance
ATRX
(A565V +1 more)
Single nucleotide variant
(missense variant)
Alpha thalassemia-X-linked intellectual disability syndrome
+1 more
GUncertain significance
ATRX
(M1723V +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonic facies syndrome, X-linked, 1
+1 more
GLikely pathogenic
ATRX
(S1103N +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonic facies syndrome, X-linked, 1
+1 more
GConflicting classifications of pathogenicity
ATRX
(S1113T +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonic facies syndrome, X-linked, 1
+1 more
GConflicting classifications of pathogenicity
ATRX
(P1675S +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonic facies syndrome, X-linked, 1
GUncertain significance
ATRX
(P2180L +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonic facies syndrome, X-linked, 1
GUncertain significance
ATRX
(P232L +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonic facies syndrome, X-linked, 1
GPathogenic
ATRX
(T1783A +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonic facies syndrome, X-linked, 1
GUncertain significance
ATRX
(T403R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ATRX
(K1897E +1 more)
Single nucleotide variant
(missense variant)
Alpha thalassemia-X-linked intellectual disability syndrome
+1 more
GUncertain significance
ATRX
(D1068E +1 more)
Single nucleotide variant
(missense variant)
Alpha thalassemia-X-linked intellectual disability syndrome
+1 more
GUncertain significance
ATRX
(K744I +1 more)
Single nucleotide variant
(missense variant)
Alpha thalassemia-X-linked intellectual disability syndrome
+1 more
GUncertain significance
ATRX
Single nucleotide variant
(synonymous variant)
Alpha thalassemia-X-linked intellectual disability syndrome
+1 more
GConflicting classifications of pathogenicity
ATRX
(K456E +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonic facies syndrome, X-linked, 1
+2 more
GUncertain significance
ATRX
(F201L +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonic facies syndrome, X-linked, 1
GUncertain significance
ATRX
Single nucleotide variant
(intron variant)
Intellectual disability-hypotonic facies syndrome, X-linked, 1
+1 more
GLikely pathogenic
ATRX
(G739R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
ATRX
(E891D +1 more)
Single nucleotide variant
(missense variant)
Alpha thalassemia-X-linked intellectual disability syndrome
+2 more
GConflicting classifications of pathogenicity
ATRX
(L601W +1 more)
Single nucleotide variant
(missense variant)
Alpha thalassemia-X-linked intellectual disability syndrome
GLikely benign
ATRX
Deletion
(intron variant)
Intellectual disability-hypotonic facies syndrome, X-linked, 1
GUncertain significance
ATRX
(C242Y +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonic facies syndrome, X-linked, 1
GLikely pathogenic
ATRX
(F2015V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ATRX
(Y228H +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonic facies syndrome, X-linked, 1
GUncertain significance
ATRX
(N1656D +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonic facies syndrome, X-linked, 1
GLikely pathogenic
ATRX
(K1057N +1 more)
Single nucleotide variant
(missense variant)
Alpha thalassemia-X-linked intellectual disability syndrome
+1 more
GConflicting classifications of pathogenicity
ATRX
Single nucleotide variant
(synonymous variant)
Alpha thalassemia-X-linked intellectual disability syndrome
+1 more
GConflicting classifications of pathogenicity
ATRX
(K159fs)
Deletion
(frameshift variant +1 more)
Alpha thalassemia-X-linked intellectual disability syndrome
+1 more
GPathogenic
ATRX
(V1514F +1 more)
Single nucleotide variant
(missense variant)
Alpha thalassemia-X-linked intellectual disability syndrome
+1 more
GUncertain significance
ATRX
(E1448del +1 more)
Microsatellite
(inframe_deletion)
Acquired hemoglobin H disease
+2 more
GUncertain significance
ATRX
(K758N +1 more)
Single nucleotide variant
(missense variant)
Acquired hemoglobin H disease
+2 more
GUncertain significance
ATRX
(T1793P +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonic facies syndrome, X-linked, 1
GUncertain significance
ATRX
(R2085L +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonic facies syndrome, X-linked, 1
GLikely pathogenic
ATRX
(V1179I +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonic facies syndrome, X-linked, 1
GUncertain significance
ATRX
(R1335I +1 more)
Single nucleotide variant
(missense variant)
Alpha thalassemia-X-linked intellectual disability syndrome
+3 more
GConflicting classifications of pathogenicity
ATRX
(M1117V +1 more)
Single nucleotide variant
(missense variant)
Alpha thalassemia-X-linked intellectual disability syndrome
+2 more
GUncertain significance
ATRX
(P2478A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
ATRX
(K1305Q +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonic facies syndrome, X-linked, 1
+2 more
GConflicting classifications of pathogenicity
ATRX
(N2296S +1 more)
Single nucleotide variant
(missense variant)
Acquired hemoglobin H disease
+3 more
GConflicting classifications of pathogenicity
ATRX
Single nucleotide variant
(intron variant)
Intellectual disability-hypotonic facies syndrome, X-linked, 1
+2 more
GConflicting classifications of pathogenicity
ATRX
(G1071R +1 more)
Single nucleotide variant
(missense variant)
Alpha thalassemia-X-linked intellectual disability syndrome
+3 more
GConflicting classifications of pathogenicity
ATRX
(Q689R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
ATRX
(D45V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
Single nucleotide variant
Intellectual disability-hypotonic facies syndrome, X-linked, 1
Gnot provided
ATRX
(L407V +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonic facies syndrome, X-linked, 1
+1 more
GUncertain significance
ATRX
(K1357R +1 more)
Single nucleotide variant
(missense variant)
Acquired hemoglobin H disease
+3 more
GUncertain significance
ATRX
(P717L +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonic facies syndrome, X-linked, 1
+2 more
GConflicting classifications of pathogenicity
ATRX
(R2085H +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
ATRX
(R2178W +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
ATRX
(E1377G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
EPOR
(P488S)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign/Likely benign
ATRX
(H475Y +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonic facies syndrome, X-linked, 1
GUncertain significance
ATRX
(E928Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
ATRX
(E723D +1 more)
Single nucleotide variant
(missense variant)
Acquired hemoglobin H disease
+5 more
GBenign/Likely benign
ATRX
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+5 more
GBenign/Likely benign
ATRX
Single nucleotide variant
(synonymous variant)
Acquired hemoglobin H disease
+5 more
GBenign/Likely benign
ATRX
(N179S +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
ATRX
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+5 more
GBenign
ATRX
Single nucleotide variant
(no sequence alteration)
Intellectual disability-hypotonic facies syndrome, X-linked, 1
+4 more
GBenign
ATRX
(R37*)
Single nucleotide variant
(nonsense)
not provided
+4 more
GPathogenic/Likely pathogenic
ATRX
(T1621M +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonic facies syndrome, X-linked, 1
GLikely pathogenic
ATRX
(R246C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GPathogenic/Likely pathogenic
ATRX
(P152A +1 more)
Single nucleotide variant
(missense variant)
Alpha thalassemia-X-linked intellectual disability syndrome
+1 more
GLikely pathogenic
ATRX
(R2093Q +1 more)
Single nucleotide variant
(missense variant)
ATRX-related condition
+3 more
GPathogenic
ATRX
(R2348* +1 more)
Single nucleotide variant
(nonsense)
ATRX-related condition
+9 more
GPathogenic
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