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Items: 61

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATRX
(M2479V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ATRX
(G2427fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
ATRX
(M2418fs +1 more)
Microsatellite
(frameshift variant)
not provided
GPathogenic/Likely pathogenic
ATRX
Single nucleotide variant
(intron variant)
Intellectual disability-hypotonic facies syndrome, X-linked, 1
+2 more
GConflicting classifications of pathogenicity
ATRX
Deletion
(intron variant)
Alpha thalassemia-X-linked intellectual disability syndrome
+1 more
GConflicting classifications of pathogenicity
ATRX
(R2348* +1 more)
Single nucleotide variant
(nonsense)
Microcephaly
+9 more
GPathogenic
ATRX
(D2259E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATRX
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ATRX
Single nucleotide variant
(synonymous variant)
ATRX-related condition
+4 more
GBenign/Likely benign
ATRX
(S1990T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
ATRX
(S1962T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATRX
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ATRX
(N1898S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATRX
(N1822S +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
ATRX
(G1721S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATRX
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
ATRX
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ATRX
(C1574R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATRX
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+5 more
GBenign
ATRX
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign
ATRX
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
ATRX
(E1464del +1 more)
Microsatellite
(inframe_deletion)
ATRX-related condition
+4 more
GBenign/Likely benign
ATRX
(E1464del +1 more)
Microsatellite
(inframe_deletion)
Alpha thalassemia-X-linked intellectual disability syndrome
+1 more
GConflicting classifications of pathogenicity
ATRX
Single nucleotide variant
(synonymous variant)
ATRX-related condition
+4 more
GBenign/Likely benign
ATRX
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ATRX
(E1377G +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
ATRX
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
ATRX
(K1185N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
ATRX
(S1141R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATRX
(C1094Y +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
ATRX
(G1031S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
ATRX
(R1022Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
ATRX
(S930T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ATRX
Single nucleotide variant
(no sequence alteration)
Inborn genetic diseases
+4 more
GBenign
ATRX
(E928Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
ATRX
(D877N +1 more)
Single nucleotide variant
(missense variant)
Alpha thalassemia-X-linked intellectual disability syndrome
+1 more
GConflicting classifications of pathogenicity
ATRX
(H865Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GBenign
ATRX
(F847S +1 more)
Single nucleotide variant
(missense variant)
ATRX-related condition
+4 more
GBenign/Likely benign
ATRX
(E723D +1 more)
Single nucleotide variant
(missense variant)
ATRX-related condition
+6 more
GBenign/Likely benign
ATRX
(P667L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
ATRX
(K623R +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
ATRX
(G602S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ATRX
(E585* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
ATRX
(Q545E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GBenign
ATRX
(N508H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ATRX
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ATRX
(K425Q +1 more)
Single nucleotide variant
(missense variant)
Alpha thalassemia-X-linked intellectual disability syndrome
+2 more
GConflicting classifications of pathogenicity
ATRX
(A345T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
ATRX
(Y309C +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)
Inborn genetic diseases
+3 more
GBenign/Likely benign
ATRX
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ATRX
(V277G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATRX
(R246C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GPathogenic/Likely pathogenic
ATRX
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+5 more
GBenign/Likely benign
ATRX
(N179S +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
ATRX
Indel
(nonsense +1 more)
not provided
GPathogenic
ATRX
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign
ATRX
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+5 more
GBenign/Likely benign
ATRX
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
ATRX
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
ATRX, LOC130068458
Single nucleotide variant
(5 prime UTR variant)
not specified
+1 more
GBenign
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