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Links from MedGen

Items: 1 to 100 of 2386

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP7B
(S105T +1 more)
Single nucleotide variant
(missense variant)
Wilson disease
GUncertain significance
ATP7B
(V1154L +28 more)
Single nucleotide variant
(missense variant)
Wilson disease
GUncertain significance
ATP7B
(E5Q)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
GUncertain significance
ATP7B
(S1081T +28 more)
Single nucleotide variant
(missense variant)
Wilson disease
GUncertain significance
ATP7B
Single nucleotide variant
(intron variant)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(synonymous variant +1 more)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(intron variant)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(synonymous variant +1 more)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(intron variant)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(intron variant)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(intron variant)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(synonymous variant +1 more)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(intron variant)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(intron variant)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(synonymous variant)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(synonymous variant +1 more)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(intron variant)
Wilson disease
GLikely benign
ATP7B
Deletion
(inframe_deletion)
Wilson disease
GPathogenic
ATP7B
Single nucleotide variant
(intron variant)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(synonymous variant +1 more)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(intron variant)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(synonymous variant +1 more)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(intron variant)
Wilson disease
GLikely benign
ATP7B
Deletion
(intron variant)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(intron variant)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(synonymous variant)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(synonymous variant)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(intron variant)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(synonymous variant +1 more)
Wilson disease
GLikely benign
ATP7B
Deletion
(intron variant)
Wilson disease
GBenign
ATP7B
Single nucleotide variant
(synonymous variant)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(synonymous variant +1 more)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(synonymous variant)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(intron variant)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(synonymous variant +1 more)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(synonymous variant +1 more)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(intron variant)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(intron variant)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(intron variant)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(intron variant)
Wilson disease
GLikely benign
ATP7B
Duplication
(intron variant)
Wilson disease
GBenign
ATP7B
Single nucleotide variant
(synonymous variant +1 more)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(intron variant)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(synonymous variant +1 more)
Wilson disease
GLikely benign
ATP7B
Deletion
(inframe_deletion +1 more)
Wilson disease
GPathogenic
ATP7B
(V650fs +9 more)
Deletion
(frameshift variant +1 more)
Wilson disease
GPathogenic
ATP7B
(A256fs +3 more)
Deletion
(frameshift variant)
Wilson disease
GPathogenic
ATP7B
Single nucleotide variant
(intron variant)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(synonymous variant +1 more)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(intron variant)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(intron variant)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(intron variant)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(intron variant)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(intron variant)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(synonymous variant +1 more)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(synonymous variant)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(intron variant)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(synonymous variant)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(intron variant)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(intron variant)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(synonymous variant +1 more)
Wilson disease
GLikely benign
ATP7B
(Q395* +4 more)
Single nucleotide variant
(nonsense +1 more)
Wilson disease
GPathogenic
ATP7B
Single nucleotide variant
(synonymous variant +1 more)
Wilson disease
GLikely benign
ATP7B
(Q323H +1 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
GUncertain significance
ATP7B
Single nucleotide variant
(intron variant)
Wilson disease
GLikely benign
ATP7B
(S778R +15 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
GPathogenic
ATP7B
Single nucleotide variant
(intron variant)
Wilson disease
GLikely benign
ATP7B
(M172T +1 more)
Single nucleotide variant
(missense variant)
Wilson disease
GUncertain significance
ATP7B
Single nucleotide variant
(synonymous variant +1 more)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(synonymous variant +1 more)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(synonymous variant +1 more)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(synonymous variant +1 more)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(intron variant)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(synonymous variant)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(intron variant)
Wilson disease
GLikely benign
ATP7B
(S1037fs +26 more)
Deletion
(frameshift variant)
Wilson disease
GPathogenic
ATP7B
Single nucleotide variant
(intron variant)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(synonymous variant +1 more)
Wilson disease
GLikely benign
ATP7B
(Y12fs +1 more)
Deletion
(frameshift variant)
Wilson disease
GPathogenic
ATP7B
Single nucleotide variant
(synonymous variant)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(synonymous variant +1 more)
Wilson disease
GLikely benign
ATP7B
(V1010fs +25 more)
Duplication
(frameshift variant +1 more)
Wilson disease
GPathogenic
ATP7B
Single nucleotide variant
(synonymous variant)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(synonymous variant +1 more)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(synonymous variant)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(synonymous variant +1 more)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(intron variant)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(synonymous variant +1 more)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(synonymous variant)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(synonymous variant +1 more)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(synonymous variant +1 more)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(synonymous variant)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(intron variant)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(intron variant)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(intron variant)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(synonymous variant)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(synonymous variant)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(synonymous variant +1 more)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(synonymous variant +1 more)
Wilson disease
GLikely benign
ATP7B
(C1020fs +26 more)
Duplication
(frameshift variant)
Wilson disease
GPathogenic
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