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Links from MedGen

Items: 1 to 100 of 532

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VPS45
Single nucleotide variant
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(synonymous variant +1 more)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Deletion
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(synonymous variant +1 more)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(synonymous variant +1 more)
VPS45-related disorder
+1 more
GLikely benign
VPS45
Single nucleotide variant
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(synonymous variant +1 more)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(synonymous variant +1 more)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(synonymous variant +1 more)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(synonymous variant +1 more)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(synonymous variant +1 more)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Deletion
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(synonymous variant +1 more)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Microsatellite
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
(D257V +2 more)
Single nucleotide variant
(missense variant +1 more)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GUncertain significance
VPS45
Single nucleotide variant
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Deletion
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(synonymous variant +1 more)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Deletion
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(synonymous variant +1 more)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(synonymous variant +1 more)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(synonymous variant +1 more)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(synonymous variant +1 more)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(synonymous variant +1 more)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(synonymous variant +1 more)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(synonymous variant +1 more)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(synonymous variant +1 more)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(synonymous variant +1 more)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
(E61A +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GUncertain significance
VPS45
Single nucleotide variant
(synonymous variant +1 more)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Duplication
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(synonymous variant +1 more)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(synonymous variant +1 more)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(synonymous variant +1 more)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(synonymous variant +1 more)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(synonymous variant +1 more)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Duplication
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Deletion
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GBenign
VPS45
Single nucleotide variant
(synonymous variant +1 more)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(synonymous variant +1 more)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(5 prime UTR variant +3 more)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(synonymous variant +1 more)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(synonymous variant +1 more)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(synonymous variant +1 more)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(intron variant +1 more)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(synonymous variant +3 more)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(synonymous variant +1 more)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(synonymous variant +1 more)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(intron variant)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(synonymous variant +1 more)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(synonymous variant +1 more)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(synonymous variant +1 more)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
VPS45
Single nucleotide variant
(synonymous variant +1 more)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GLikely benign
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