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Links from MedGen

Items: 1 to 100 of 1122

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NSD1
(M1936fs +5 more)
Duplication
(frameshift variant)
Sotos syndrome
GPathogenic
NSD1
(H1581Q +4 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GLikely pathogenic
NSD1
(S1053N +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(G479S +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(V643I +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(K1196E +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(E1023* +3 more)
Single nucleotide variant
(nonsense)
Sotos syndrome
GLikely pathogenic
NSD1
(P1318fs +4 more)
Duplication
(frameshift variant)
Sotos syndrome
GLikely pathogenic
LOC126807619, NSD1
Single nucleotide variant
(splice acceptor variant)
Sotos syndrome
GPathogenic
NSD1
(L1005R +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
NSD1
(S1053G +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(D1741fs +4 more)
Duplication
(frameshift variant)
Sotos syndrome
GLikely pathogenic
NSD1
(C559R +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(N2087fs +4 more)
Duplication
(frameshift variant +1 more)
Sotos syndrome
GLikely pathogenic
NSD1
(Y1465* +4 more)
Single nucleotide variant
(nonsense)
Sotos syndrome
GLikely pathogenic
LOC126807619, NSD1
(G1501R +4 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GLikely pathogenic
LOC126807619, NSD1
(M1496V +4 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GPathogenic
NSD1
(P1613S +4 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GLikely pathogenic
NSD1
(E1679fs +4 more)
Insertion
(frameshift variant)
Sotos syndrome
GLikely pathogenic
CDHR2, EIF4E1B
+65 more
Copy number loss
Sotos syndrome
GPathogenic
NSD1
Single nucleotide variant
(splice acceptor variant)
Sotos syndrome
GUncertain significance
NSD1
(A2145fs +5 more)
Deletion
(frameshift variant)
Sotos syndrome
GLikely pathogenic
NSD1
(G1722fs +4 more)
Deletion
(frameshift variant +1 more)
Sotos syndrome
GPathogenic
LOC126807619, NSD1
(G1509fs +4 more)
Duplication
(frameshift variant)
Sotos syndrome
GPathogenic
NSD1
(K541fs +3 more)
Duplication
(frameshift variant)
Sotos syndrome
GPathogenic
NSD1
(C1352S +4 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GPathogenic
NSD1
(Q1008fs +3 more)
Indel
(frameshift variant)
Sotos syndrome
GLikely pathogenic
NSD1
(H1347R +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NSD1
(Q1011* +3 more)
Single nucleotide variant
(nonsense)
Sotos syndrome
GPathogenic
NSD1
Single nucleotide variant
(intron variant)
Sotos syndrome
GUncertain significance
NSD1
(C1349Y +4 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GPathogenic
NSD1
Deletion
(splice donor variant)
Sotos syndrome
GPathogenic
NSD1
(L2040fs +5 more)
Duplication
(frameshift variant)
Sotos syndrome
GLikely pathogenic
NSD1
(G1719V +5 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GLikely pathogenic
NSD1
(C324G +4 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(A2185T +6 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(I126F +4 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(G296A +4 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(A1871T +6 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(Q2140* +6 more)
Single nucleotide variant
(nonsense)
Sotos syndrome
GLikely pathogenic
NSD1
(N307fs +1 more)
Deletion
(frameshift variant)
Sotos syndrome
GLikely pathogenic
B4GALT7, DBN1
+16 more
Duplication
Sotos syndrome
GUncertain significance
NSD1
Deletion
Sotos syndrome
GPathogenic
ADAMTS2, ARL10
+63 more
Duplication
not provided
GUncertain significance
B4GALT7, DBN1
+22 more
Deletion
Sotos syndrome
GPathogenic
NSD1
(P1905L +6 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(N686S +4 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GLikely benign
NSD1
Single nucleotide variant
(intron variant)
Sotos syndrome
GLikely benign
NSD1
(E198D +4 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GBenign
NSD1
(A510T +4 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GLikely benign
NSD1
(S435P +4 more)
Inversion
(missense variant)
Sotos syndrome
GLikely benign
NSD1
(S1061C +4 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GBenign
NSD1
Single nucleotide variant
(synonymous variant)
Sotos syndrome
GLikely benign
NSD1
(E336G +4 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GConflicting classifications of pathogenicity
NSD1
Single nucleotide variant
(intron variant)
Sotos syndrome
GLikely benign
NSD1
(E1486K +5 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GLikely benign
NSD1
Single nucleotide variant
(synonymous variant +1 more)
Sotos syndrome
GLikely benign
NSD1
Single nucleotide variant
(synonymous variant)
Sotos syndrome
GLikely benign
NSD1
(I806T +4 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GLikely benign
NSD1
Single nucleotide variant
(synonymous variant)
Sotos syndrome
GLikely benign
NSD1
Single nucleotide variant
(synonymous variant)
Sotos syndrome
GLikely benign
NSD1
(R761H +4 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GLikely benign
NSD1
Single nucleotide variant
(intron variant)
Sotos syndrome
+1 more
GLikely benign
NSD1
Single nucleotide variant
(synonymous variant)
Sotos syndrome
GLikely benign
NSD1
(R1045C +4 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GBenign
NSD1
(L253V)
Single nucleotide variant
(missense variant +1 more)
Sotos syndrome
GLikely benign
NSD1
Single nucleotide variant
(synonymous variant)
Sotos syndrome
GLikely benign
NSD1
(D163N)
Single nucleotide variant
(missense variant +1 more)
Sotos syndrome
GLikely benign
NSD1
Single nucleotide variant
(synonymous variant)
Sotos syndrome
GLikely benign
NSD1
Single nucleotide variant
(synonymous variant)
Sotos syndrome
GBenign
NSD1
(E782K +4 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
+1 more
GConflicting classifications of pathogenicity
NSD1
Single nucleotide variant
(synonymous variant)
Sotos syndrome
GBenign
NSD1
(N1082D +4 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
+1 more
GConflicting classifications of pathogenicity
NSD1
Single nucleotide variant
(intron variant)
Sotos syndrome
GLikely benign
NSD1
Single nucleotide variant
(synonymous variant)
Sotos syndrome
GLikely benign
NSD1
Single nucleotide variant
(synonymous variant)
Sotos syndrome
GLikely benign
NSD1
Single nucleotide variant
(synonymous variant +1 more)
Sotos syndrome
GLikely benign
NSD1
Single nucleotide variant
(intron variant)
Sotos syndrome
GLikely benign
NSD1
(D329E +4 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GLikely benign
NSD1
(N766Y +4 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GBenign
NSD1
(R2157G +6 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
Single nucleotide variant
(synonymous variant)
Sotos syndrome
GLikely benign
NSD1
(G2230R +6 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GLikely benign
NSD1
(D1103E +4 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GBenign
NSD1
Single nucleotide variant
(synonymous variant)
Sotos syndrome
GUncertain significance
NSD1
(K205R +4 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(S567G +4 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
Single nucleotide variant
(synonymous variant)
Sotos syndrome
GLikely benign
NSD1
(A428T +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GLikely benign
NSD1
Single nucleotide variant
(synonymous variant)
Sotos syndrome
GLikely benign
NSD1
(N245S +4 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(P178S +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
NSD1
(Q436H +4 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GBenign
NSD1
Single nucleotide variant
(synonymous variant)
Sotos syndrome
GLikely benign
NSD1
Single nucleotide variant
(synonymous variant)
Sotos syndrome
GLikely benign
NSD1
(G356E +4 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GLikely benign
NSD1
Single nucleotide variant
(synonymous variant)
Sotos syndrome
GLikely benign
NSD1
(T478I +4 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(I373T +4 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
Single nucleotide variant
(synonymous variant)
Sotos syndrome
GLikely benign
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