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Links from MedGen

Items: 30

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FGFBP1, LOC126806998
+393 more
Copy number loss
4p partial monosomy syndrome
GPathogenic
NSD2
(D943fs)
Duplication
(frameshift variant)
4p partial monosomy syndrome
Gnot provided
NSD2
(K309N)
Single nucleotide variant
(missense variant)
4p partial monosomy syndrome
GLikely pathogenic
NUF2
(L303P)
Single nucleotide variant
(missense variant)
4p partial monosomy syndrome
GUncertain significance
NSD2
Single nucleotide variant
(synonymous variant)
4p partial monosomy syndrome
+3 more
GBenign/Likely benign
LETM1
Duplication
(intron variant)
not provided
+1 more
GBenign/Likely benign
NSD2
(G1364S)
Single nucleotide variant
(missense variant)
4p partial monosomy syndrome
+1 more
GUncertain significance
NSD2
(G1076fs)
Duplication
(frameshift variant)
4p partial monosomy syndrome
GPathogenic
NSD2
(R892K)
Single nucleotide variant
(missense variant)
4p partial monosomy syndrome
GUncertain significance
LETM1
(H109R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
CTBP1
Single nucleotide variant
(synonymous variant)
Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
+3 more
GBenign/Likely benign
NSD2
(E1091K)
Single nucleotide variant
(missense variant)
4p partial monosomy syndrome
GUncertain significance
NSD2
(Q963*)
Single nucleotide variant
(nonsense)
4p partial monosomy syndrome
GPathogenic
FGFRL1
(L281R)
Single nucleotide variant
(missense variant)
4p partial monosomy syndrome
GUncertain significance
LETM1
(M421L)
Single nucleotide variant
(missense variant)
4p partial monosomy syndrome
GUncertain significance
LETM1
(N131K)
Single nucleotide variant
(missense variant)
4p partial monosomy syndrome
+1 more
GBenign/Likely benign
FGFRL1
(D181N)
Single nucleotide variant
(missense variant)
4p partial monosomy syndrome
+2 more
GBenign/Likely benign
ADGRA3, DHX15
+5 more
Copy number loss
4p partial monosomy syndrome
GPathogenic
HAUS3, FAM53A
+16 more
Copy number loss
4p partial monosomy syndrome
GPathogenic
JAKMIP1, KIAA0232
+90 more
Copy number loss
4p partial monosomy syndrome
GPathogenic
NSD2
(Q265*)
Single nucleotide variant
(nonsense)
4p partial monosomy syndrome
+1 more
GPathogenic
NSD2
(W236*)
Single nucleotide variant
(nonsense)
4p partial monosomy syndrome
+1 more
GPathogenic
NSD2
(K524fs)
Duplication
(frameshift variant)
4p partial monosomy syndrome
+1 more
GPathogenic
NSD2
Microsatellite
(splice acceptor variant)
Global developmental delay
+4 more
GPathogenic
NSD2
Duplication
(3 prime UTR variant)
4p partial monosomy syndrome
GUncertain significance
NSD2
Duplication
(3 prime UTR variant)
4p partial monosomy syndrome
GUncertain significance
NSD2
Duplication
(3 prime UTR variant)
4p partial monosomy syndrome
GUncertain significance
NSD2
Microsatellite
(3 prime UTR variant)
4p partial monosomy syndrome
GLikely benign
NSD2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NSD2
Duplication
(intron variant)
4p partial monosomy syndrome
GUncertain significance
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