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Items: 1 to 100 of 102

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NSD1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
NSD1
(M81I)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
NSD1
Single nucleotide variant
(synonymous variant +1 more)
Sotos syndrome
+2 more
GBenign/Likely benign
NSD1
Single nucleotide variant
(synonymous variant +1 more)
Sotos syndrome
+4 more
GBenign/Likely benign
NSD1
(A252del)
Microsatellite
(inframe_indel +2 more)
Sotos syndrome
+1 more
GConflicting classifications of pathogenicity
NSD1
Single nucleotide variant
(missense variant +1 more)
NSD1-related condition
+4 more
GBenign/Likely benign
NSD1
Single nucleotide variant
(synonymous variant)
Sotos syndrome
+3 more
GConflicting classifications of pathogenicity
NSD1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
NSD1
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
NSD1
(M186T +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
+3 more
GConflicting classifications of pathogenicity
NSD1
Single nucleotide variant
(synonymous variant)
Sotos syndrome
+3 more
GBenign
NSD1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GBenign
NSD1
Single nucleotide variant
(synonymous variant)
Sotos syndrome
+3 more
GConflicting classifications of pathogenicity
NSD1
(N287D +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
+2 more
GConflicting classifications of pathogenicity
NSD1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign
NSD1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
NSD1
Single nucleotide variant
(synonymous variant)
Sotos syndrome
+3 more
GBenign
NSD1
(Q341R +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
+1 more
GConflicting classifications of pathogenicity
NSD1
(V345L +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
+3 more
GBenign
NSD1
Single nucleotide variant
(synonymous variant)
Sotos syndrome
+1 more
GConflicting classifications of pathogenicity
NSD1
(S457P +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
+3 more
GBenign
NSD1
(N756D +4 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
+2 more
GConflicting classifications of pathogenicity
NSD1
Single nucleotide variant
(synonymous variant)
Sotos syndrome
+4 more
GBenign/Likely benign
NSD1
(G770V +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NSD1
(K514fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
NSD1
(Q515E +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
+2 more
GConflicting classifications of pathogenicity
NSD1
(M531T +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
NSD1
(S548F +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
+3 more
GBenign/Likely benign
NSD1
(D635A +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NSD1
(T922M +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NSD1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GBenign/Likely benign
NSD1
(T703fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
NSD1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
NSD1
Single nucleotide variant
(synonymous variant)
Sotos syndrome
+2 more
GConflicting classifications of pathogenicity
NSD1
Single nucleotide variant
(synonymous variant)
Sotos syndrome
+3 more
GConflicting classifications of pathogenicity
NSD1
(A767P +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
+3 more
GBenign
NSD1
(Q1037R +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NSD1
Single nucleotide variant
(synonymous variant)
Sotos syndrome
+3 more
GConflicting classifications of pathogenicity
NSD1
(R1052C +4 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
NSD1
(T794A +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
+4 more
GBenign/Likely benign
NSD1
(R1072* +4 more)
Single nucleotide variant
(nonsense)
Sotos syndrome
+1 more
GPathogenic
NSD1
(L1091R +4 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
+1 more
GUncertain significance
NSD1
(P850A +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NSD1
(S1128fs +1 more)
Duplication
(frameshift variant)
not provided
GPathogenic
NSD1
(S1128F +4 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
+1 more
GConflicting classifications of pathogenicity
NSD1
(E861G +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
+3 more
GConflicting classifications of pathogenicity
NSD1
Single nucleotide variant
(synonymous variant)
Sotos syndrome
+3 more
GConflicting classifications of pathogenicity
NSD1
(G1132R +4 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
+3 more
GConflicting classifications of pathogenicity
NSD1
(A1186I +4 more)
Indel
(missense variant)
Sotos syndrome
+2 more
GUncertain significance
NSD1
Single nucleotide variant
(synonymous variant)
Sotos syndrome
+1 more
GUncertain significance
NSD1
(R1188S +4 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
+3 more
GBenign/Likely benign
NSD1
(R1233W +4 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
+1 more
GUncertain significance
NSD1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign
NSD1
Single nucleotide variant
(synonymous variant)
Sotos syndrome
+1 more
GConflicting classifications of pathogenicity
NSD1
(E1353fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
NSD1
(R1137fs +1 more)
Deletion
(frameshift variant)
Sotos syndrome
+1 more
GPathogenic
NSD1
Single nucleotide variant
(intron variant)
Sotos syndrome
+1 more
GConflicting classifications of pathogenicity
NSD1
Single nucleotide variant
(synonymous variant)
Sotos syndrome
+2 more
GConflicting classifications of pathogenicity
NSD1
Deletion
(intron variant)
Sotos syndrome
+2 more
GBenign/Likely benign
NSD1
(T1507M +4 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
+3 more
GBenign/Likely benign
NSD1
(D1522Y +4 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
+3 more
GConflicting classifications of pathogenicity
NSD1
Single nucleotide variant
(intron variant)
Sotos syndrome
+3 more
GBenign/Likely benign
NSD1
(D1333N +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NSD1
(Y1346C +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NSD1
(V1620I +5 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
+1 more
GConflicting classifications of pathogenicity
NSD1
(K1362R +4 more)
Single nucleotide variant
(missense variant)
NSD1-related condition
+3 more
GBenign/Likely benign
NSD1
(C1674S +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NSD1
(V1491fs)
Deletion
(frameshift variant)
Sotos syndrome
+1 more
GPathogenic
LOC126807619, NSD1
(R1778* +5 more)
Single nucleotide variant
(nonsense)
Sotos syndrome
+3 more
GPathogenic
LOC126807619, NSD1
(V1820M +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NSD1
Single nucleotide variant
(synonymous variant)
Sotos syndrome
+3 more
GConflicting classifications of pathogenicity
NSD1
(I1879V +5 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
+2 more
GConflicting classifications of pathogenicity
NSD1
Single nucleotide variant
(synonymous variant)
Sotos syndrome
+3 more
GConflicting classifications of pathogenicity
NSD1
(R2017W +5 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
+1 more
GPathogenic
NSD1
Single nucleotide variant
(intron variant)
Sotos syndrome
+1 more
GUncertain significance
NSD1
Single nucleotide variant
(splice acceptor variant +1 more)
not provided
GPathogenic
NSD1
(Y1789C +4 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
+3 more
GConflicting classifications of pathogenicity
NSD1
(Q2129E +6 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NSD1
(N1879fs +1 more)
Duplication
(frameshift variant)
not provided
GPathogenic
NSD1
Single nucleotide variant
(synonymous variant)
Sotos syndrome
+2 more
GBenign/Likely benign
NSD1
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
NSD1
Indel
(intron variant)
not provided
GUncertain significance
NSD1
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
NSD1
Single nucleotide variant
(intron variant)
NSD1-related condition
+2 more
GConflicting classifications of pathogenicity
NSD1
(C1909Y +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NSD1
(S2180fs +1 more)
Insertion
(frameshift variant)
not provided
GPathogenic
NSD1
(M1981I +5 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
+3 more
GBenign
NSD1
(M1992T +5 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
+3 more
GBenign
NSD1
Single nucleotide variant
(synonymous variant)
Sotos syndrome
+2 more
GBenign
NSD1
(V2296A +6 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
+3 more
GConflicting classifications of pathogenicity
NSD1
Single nucleotide variant
(synonymous variant)
Sotos syndrome
+3 more
GBenign
NSD1
(V2076F +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NSD1
(P2257S +5 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
+4 more
GConflicting classifications of pathogenicity
NSD1
(L2264V +5 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
+3 more
GConflicting classifications of pathogenicity
NSD1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
NSD1
(A2277T +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GBenign
NSD1
(K2312R +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NSD1
Single nucleotide variant
(synonymous variant)
Sotos syndrome
+1 more
GConflicting classifications of pathogenicity
NSD1
(L2348S +5 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
+4 more
GBenign/Likely benign
NSD1
Single nucleotide variant
(synonymous variant)
NSD1-related condition
+4 more
GBenign/Likely benign
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