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Links from MedGen

Items: 1 to 100 of 669

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SUMF1
Single nucleotide variant
(synonymous variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(intron variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(intron variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(synonymous variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(intron variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(intron variant)
Multiple sulfatase deficiency
GLikely benign
LOC129936056, SUMF1
(Q35*)
Single nucleotide variant
(nonsense)
Multiple sulfatase deficiency
GPathogenic
SUMF1
Single nucleotide variant
(intron variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(intron variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(intron variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(intron variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(synonymous variant)
Multiple sulfatase deficiency
GLikely benign
LOC129936056, SUMF1
Duplication
(intron variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(intron variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(synonymous variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(synonymous variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(intron variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(synonymous variant +1 more)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(intron variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(synonymous variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(synonymous variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(intron variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(intron variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(synonymous variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(synonymous variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(synonymous variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(synonymous variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(intron variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
(G295fs +1 more)
Deletion
(frameshift variant +1 more)
Multiple sulfatase deficiency
GPathogenic
SUMF1
Single nucleotide variant
(intron variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(synonymous variant)
Multiple sulfatase deficiency
GLikely benign
LOC129936056, SUMF1
Single nucleotide variant
(synonymous variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(synonymous variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(intron variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(synonymous variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(intron variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(intron variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
(S185fs +1 more)
Deletion
(frameshift variant)
Multiple sulfatase deficiency
GPathogenic
SUMF1
(K138fs)
Deletion
(frameshift variant)
Multiple sulfatase deficiency
GPathogenic
SUMF1
Single nucleotide variant
(synonymous variant +1 more)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(synonymous variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(synonymous variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(synonymous variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(intron variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(synonymous variant)
Multiple sulfatase deficiency
GLikely benign
LOC129936056, SUMF1
Single nucleotide variant
(synonymous variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(intron variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(synonymous variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(intron variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(synonymous variant)
Multiple sulfatase deficiency
GLikely benign
LOC129936056, SUMF1
(Q56fs)
Deletion
(frameshift variant)
Multiple sulfatase deficiency
GPathogenic
SUMF1
Single nucleotide variant
(intron variant)
Multiple sulfatase deficiency
GLikely benign
LOC129936056, SUMF1
Single nucleotide variant
(synonymous variant)
Multiple sulfatase deficiency
GBenign
SUMF1
(N293S +1 more)
Single nucleotide variant
(missense variant)
Multiple sulfatase deficiency
GUncertain significance
SUMF1
Single nucleotide variant
(synonymous variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(synonymous variant +1 more)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(synonymous variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(synonymous variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(intron variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(intron variant)
Multiple sulfatase deficiency
GLikely benign
LOC129936056, SUMF1
Single nucleotide variant
(synonymous variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
(L6fs)
Duplication
(frameshift variant)
Multiple sulfatase deficiency
GPathogenic
SUMF1
Single nucleotide variant
(intron variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
(V19L)
Single nucleotide variant
(missense variant)
Multiple sulfatase deficiency
GUncertain significance
SUMF1
Single nucleotide variant
(synonymous variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(synonymous variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(intron variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(synonymous variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
(N212fs +1 more)
Duplication
(frameshift variant)
Multiple sulfatase deficiency
GPathogenic
SUMF1
Single nucleotide variant
(intron variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
(C13*)
Single nucleotide variant
(nonsense)
Multiple sulfatase deficiency
GPathogenic
SUMF1
Single nucleotide variant
(synonymous variant)
Multiple sulfatase deficiency
GLikely benign
LOC129936056, SUMF1
(R84fs)
Deletion
(frameshift variant)
Multiple sulfatase deficiency
GPathogenic
SUMF1
Single nucleotide variant
(intron variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(intron variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(intron variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(intron variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Deletion
(intron variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(synonymous variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
(P153fs +1 more)
Deletion
(frameshift variant)
Multiple sulfatase deficiency
GPathogenic
SUMF1
Single nucleotide variant
(intron variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(synonymous variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(splice donor variant)
Multiple sulfatase deficiency
GPathogenic
SUMF1
(T253fs +1 more)
Deletion
(frameshift variant)
Multiple sulfatase deficiency
GPathogenic
SUMF1
(R12fs)
Duplication
(frameshift variant)
Multiple sulfatase deficiency
GPathogenic
SUMF1
(W154* +1 more)
Single nucleotide variant
(nonsense)
Multiple sulfatase deficiency
GPathogenic
SUMF1
Deletion
(inframe_deletion +1 more)
Multiple sulfatase deficiency
GPathogenic
SUMF1
Single nucleotide variant
(intron variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
(R329P +2 more)
Single nucleotide variant
(missense variant)
Multiple sulfatase deficiency
GPathogenic
LOC129936056, SUMF1
Single nucleotide variant
(synonymous variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1, LOC129936056
Single nucleotide variant
(synonymous variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(synonymous variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(synonymous variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(intron variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(intron variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(synonymous variant)
Multiple sulfatase deficiency
GLikely benign
LOC129936056, SUMF1
(E83*)
Single nucleotide variant
(nonsense)
Multiple sulfatase deficiency
GPathogenic
LOC129936056, SUMF1
Single nucleotide variant
(synonymous variant)
Multiple sulfatase deficiency
GLikely benign
SUMF1
Single nucleotide variant
(synonymous variant)
Multiple sulfatase deficiency
GLikely benign
LOC129936056, SUMF1
Single nucleotide variant
(synonymous variant)
Multiple sulfatase deficiency
GLikely benign
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