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Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP7A
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ATP7A
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+7 more
GBenign
ATP7A
(R201*)
Single nucleotide variant
(nonsense)
Cutis laxa, X-linked
+3 more
GPathogenic
ATP7A
Single nucleotide variant
(intron variant)
ATP7A-related condition
+4 more
GBenign
ATP7A
(K402fs)
Deletion
(frameshift variant)
not provided
GPathogenic
ATP7A
(E436K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP7A
(V530I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP7A
(T574R)
Single nucleotide variant
(missense variant)
Menkes kinky-hair syndrome
+3 more
GConflicting classifications of pathogenicity
ATP7A
Single nucleotide variant
(synonymous variant)
Menkes kinky-hair syndrome
+3 more
GConflicting classifications of pathogenicity
ATP7A
(Y608C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GBenign/Likely benign
ATP7A
(R652Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
ATP7A
(F660fs)
Duplication
(frameshift variant)
not provided
GPathogenic
ATP7A
Single nucleotide variant
(synonymous variant)
History of neurodevelopmental disorder
+5 more
GConflicting classifications of pathogenicity
ATP7A
(V767L)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, X-linked
+5 more
GBenign
ATP7A
(P857L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP7A
(S821fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
ATP7A
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
ATP7A
(G1005R +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
ATP7A
(I1024K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP7A
(D1139G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GBenign
ATP7A
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
ATP7A
(D1227fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
ATP7A
(V1324I +1 more)
Single nucleotide variant
(missense variant +1 more)
Menkes kinky-hair syndrome
+3 more
GUncertain significance
ATP7A
(N1336D +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
ATP7A
Single nucleotide variant
(no sequence alteration +1 more)
Cutis laxa, X-linked
+5 more
GBenign
ATP7A
Single nucleotide variant
(intron variant)
X-linked distal spinal muscular atrophy type 3
+4 more
GBenign/Likely benign
ATP7A
(I1464V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+6 more
GBenign
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