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Links from MedGen

Items: 1 to 100 of 708

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HEXB
Single nucleotide variant
(synonymous variant +1 more)
Sandhoff disease
GLikely benign
HEXB
(A300T +1 more)
Single nucleotide variant
(missense variant)
Sandhoff disease
GUncertain significance
HEXB
Single nucleotide variant
(intron variant)
Sandhoff disease
GLikely benign
HEXB
Deletion
(intron variant)
Sandhoff disease
GBenign
HEXB
Single nucleotide variant
(synonymous variant +1 more)
Sandhoff disease
GLikely benign
HEXB
(A495fs +1 more)
Duplication
(frameshift variant)
Sandhoff disease
GPathogenic
HEXB
Single nucleotide variant
(intron variant)
Sandhoff disease
GLikely benign
HEXB
Single nucleotide variant
(intron variant)
Sandhoff disease
GLikely benign
HEXB
Single nucleotide variant
(intron variant)
Sandhoff disease
GLikely benign
HEXB
(W11* +1 more)
Single nucleotide variant
(nonsense)
Sandhoff disease
GPathogenic
HEXB
Single nucleotide variant
(intron variant)
Sandhoff disease
GLikely benign
HEXB
Single nucleotide variant
(intron variant)
Sandhoff disease
GLikely benign
HEXB
Single nucleotide variant
(intron variant)
Sandhoff disease
GLikely benign
HEXB
Single nucleotide variant
(intron variant)
Sandhoff disease
GLikely benign
HEXB
Single nucleotide variant
(intron variant)
Sandhoff disease
GLikely benign
HEXB
Single nucleotide variant
(intron variant)
Sandhoff disease
GLikely benign
HEXB
Single nucleotide variant
(intron variant)
Sandhoff disease
GLikely benign
HEXB
Single nucleotide variant
(intron variant)
Sandhoff disease
GLikely benign
HEXB
Single nucleotide variant
(intron variant)
Sandhoff disease
GLikely benign
HEXB
Single nucleotide variant
(synonymous variant +1 more)
Sandhoff disease
GLikely benign
HEXB
Single nucleotide variant
(intron variant)
Sandhoff disease
GLikely benign
HEXB
Single nucleotide variant
(intron variant)
Sandhoff disease
GLikely benign
HEXB
Single nucleotide variant
(intron variant)
Sandhoff disease
GLikely benign
HEXB
Single nucleotide variant
(synonymous variant +1 more)
Sandhoff disease
GLikely benign
HEXB
Single nucleotide variant
(intron variant)
Sandhoff disease
GLikely benign
HEXB
Single nucleotide variant
(intron variant)
Sandhoff disease
GLikely benign
HEXB
Single nucleotide variant
(intron variant)
Sandhoff disease
GLikely benign
HEXB
Single nucleotide variant
(intron variant)
Sandhoff disease
GLikely benign
HEXB
Deletion
(intron variant)
Sandhoff disease
GLikely benign
HEXB
(D470fs +1 more)
Insertion
(frameshift variant)
Sandhoff disease
GPathogenic
HEXB
Single nucleotide variant
(synonymous variant)
Sandhoff disease
GLikely benign
HEXB
Single nucleotide variant
(synonymous variant)
Sandhoff disease
GLikely benign
HEXB
Single nucleotide variant
(intron variant)
Sandhoff disease
GLikely benign
HEXB
(C309R +1 more)
Single nucleotide variant
(missense variant)
Sandhoff disease
GLikely pathogenic
HEXB
Single nucleotide variant
(synonymous variant)
Sandhoff disease
GLikely benign
HEXB
Single nucleotide variant
(synonymous variant)
Sandhoff disease
GLikely benign
HEXB
Single nucleotide variant
(synonymous variant)
Sandhoff disease
GLikely benign
HEXB
Single nucleotide variant
(intron variant)
Sandhoff disease
GLikely benign
HEXB
Single nucleotide variant
(synonymous variant)
Sandhoff disease
GLikely benign
HEXB
Single nucleotide variant
(synonymous variant +1 more)
Sandhoff disease
GLikely benign
HEXB
Single nucleotide variant
(splice donor variant)
Sandhoff disease
GLikely pathogenic
HEXB
Single nucleotide variant
(intron variant)
Sandhoff disease
GLikely benign
HEXB
(E266fs +1 more)
Duplication
(frameshift variant)
Sandhoff disease
GPathogenic
HEXB
Single nucleotide variant
(synonymous variant +1 more)
Sandhoff disease
GLikely benign
HEXB
(P430fs +1 more)
Deletion
(frameshift variant)
Sandhoff disease
GPathogenic
HEXB
Single nucleotide variant
(intron variant)
Sandhoff disease
GLikely benign
HEXB
Duplication
(intron variant)
Sandhoff disease
GLikely benign
HEXB
Single nucleotide variant
(intron variant)
Sandhoff disease
GLikely benign
HEXB
Single nucleotide variant
(synonymous variant)
Sandhoff disease
GLikely benign
HEXB
Single nucleotide variant
(intron variant)
Sandhoff disease
GLikely benign
HEXB
Single nucleotide variant
(synonymous variant)
Sandhoff disease
GLikely benign
HEXB
Single nucleotide variant
(synonymous variant)
Sandhoff disease
GLikely benign
HEXB
Single nucleotide variant
(intron variant)
Sandhoff disease
GLikely benign
HEXB
Single nucleotide variant
(intron variant)
Sandhoff disease
GLikely benign
HEXB
Single nucleotide variant
(synonymous variant +1 more)
Sandhoff disease
GLikely benign
HEXB
Single nucleotide variant
(intron variant)
Sandhoff disease
GLikely benign
HEXB
Single nucleotide variant
(synonymous variant)
Sandhoff disease
GLikely benign
HEXB
Single nucleotide variant
(intron variant)
Sandhoff disease
GLikely benign
HEXB
Single nucleotide variant
(synonymous variant)
Sandhoff disease
GLikely benign
HEXB
Single nucleotide variant
(synonymous variant +1 more)
Sandhoff disease
GLikely benign
HEXB
Single nucleotide variant
(synonymous variant)
Sandhoff disease
GLikely benign
HEXB
Single nucleotide variant
(intron variant)
Sandhoff disease
GLikely benign
HEXB
(W298* +1 more)
Single nucleotide variant
(nonsense)
Sandhoff disease
GPathogenic
HEXB
Single nucleotide variant
(intron variant)
Sandhoff disease
GLikely benign
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