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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NSD1
(R9I)
Single nucleotide variant
(missense variant)
Sotos syndrome
GLikely benign
NSD1
(M444fs +1 more)
Duplication
(frameshift variant)
Sotos syndrome
GPathogenic
NSD1
(R1861* +5 more)
Single nucleotide variant
(nonsense)
Sotos syndrome
+1 more
GPathogenic
NSD1
(R1914C +5 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
NSD1
(P1673fs +1 more)
Deletion
(frameshift variant)
Sotos syndrome
GPathogenic
NSD1
(G1662V +5 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GLikely pathogenic
NSD1
(R2005* +5 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
NSD1
(R2017Q +5 more)
Single nucleotide variant
(missense variant)
Global developmental delay
+16 more
GPathogenic/Likely pathogenic
NSD1
(E2120* +6 more)
Single nucleotide variant
(nonsense)
Sotos syndrome
GPathogenic
NSD1
(S1912F +6 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 2
GLikely pathogenic
NSD1
(Q2022Y +6 more)
Indel
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(W2289* +6 more)
Single nucleotide variant
(nonsense)
Sotos syndrome
GPathogenic
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