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Links from MedGen

Items: 1 to 100 of 118

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RAI1
(H1876fs)
Duplication
(frameshift variant)
Smith-Magenis syndrome
GPathogenic
RAI1
(G823D)
Single nucleotide variant
(missense variant)
Smith-Magenis syndrome
GUncertain significance
RAI1
(P210R)
Single nucleotide variant
(missense variant)
Smith-Magenis syndrome
GLikely pathogenic
RAI1
(S968*)
Single nucleotide variant
(nonsense)
Smith-Magenis syndrome
GLikely pathogenic
RAI1
(S560fs)
Deletion
(frameshift variant)
Smith-Magenis syndrome
GLikely pathogenic
RAI1
(A74fs)
Deletion
(frameshift variant)
Smith-Magenis syndrome
GPathogenic
RAI1
(D777fs)
Deletion
(frameshift variant)
Smith-Magenis syndrome
GPathogenic
RAI1
(R1803G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
RAI1
(Q92K)
Single nucleotide variant
(missense variant)
Smith-Magenis syndrome
GUncertain significance
RAI1
(S1488G)
Single nucleotide variant
(missense variant)
Smith-Magenis syndrome
GUncertain significance
RAI1
(A540S)
Single nucleotide variant
(missense variant)
Smith-Magenis syndrome
GUncertain significance
RAI1
(D593Y)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RAI1
(R94S)
Single nucleotide variant
(missense variant)
Smith-Magenis syndrome
GUncertain significance
RAI1
(V1098fs)
Deletion
(frameshift variant)
Smith-Magenis syndrome
GLikely pathogenic
RAI1
(E923fs)
Deletion
(frameshift variant)
Smith-Magenis syndrome
+1 more
GPathogenic/Likely pathogenic
RAI1
(T1136M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
RAI1
(A1472G)
Single nucleotide variant
(missense variant)
Smith-Magenis syndrome
GUncertain significance
RAI1
(T1440fs)
Duplication
(frameshift variant)
Smith-Magenis syndrome
GPathogenic
RAI1
(V553A)
Single nucleotide variant
(missense variant)
Smith-Magenis syndrome
GUncertain significance
RAI1
(Q283fs)
Deletion
(frameshift variant)
Smith-Magenis syndrome
GPathogenic
RAI1
(R596fs)
Duplication
(frameshift variant)
Smith-Magenis syndrome
GPathogenic
RAI1
(G90fs)
Deletion
(frameshift variant)
Smith-Magenis syndrome
GLikely pathogenic
RAI1
(G1742fs)
Deletion
(frameshift variant)
Smith-Magenis syndrome
GLikely pathogenic
RAI1
(D1179fs)
Deletion
(frameshift variant)
Smith-Magenis syndrome
GLikely pathogenic
AKAP10, ALDH3A1
+43 more
Copy number loss
Smith-Magenis syndrome
GPathogenic
AKAP10, ALDH3A1
+48 more
Copy number loss
Smith-Magenis syndrome
GPathogenic
RAI1
(G1742V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
RAI1
Single nucleotide variant
(intron variant)
Smith-Magenis syndrome
GLikely pathogenic
RAI1
(R5*)
Single nucleotide variant
(nonsense)
Smith-Magenis syndrome
GLikely pathogenic
RAI1
(P1815fs)
Deletion
(frameshift variant)
Smith-Magenis syndrome
GLikely pathogenic
RAI1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
RAI1
(R273C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
RAI1
(E628K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
RAI1
(P1134L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
RAI1
(P152T)
Single nucleotide variant
(missense variant)
Smith-Magenis syndrome
+1 more
GUncertain significance
RAI1
(H1220Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RAI1
(R80Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
RAI1
(H172Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
RAI1
(G1372R)
Single nucleotide variant
(missense variant)
Smith-Magenis syndrome
GUncertain significance
RAI1
(C1056W)
Single nucleotide variant
(missense variant)
Smith-Magenis syndrome
GUncertain significance
RAI1
(P1900A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RAI1
(F1424fs)
Deletion
(frameshift variant)
Smith-Magenis syndrome
GPathogenic
RAI1
(A1091D)
Single nucleotide variant
(missense variant)
Smith-Magenis syndrome
GUncertain significance
LOC112529899, LOC130060389
+1 more
Deletion
(intron variant)
Smith-Magenis syndrome
GPathogenic
RAI1
(A734T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
RAI1
(Q290*)
Single nucleotide variant
(nonsense)
Smith-Magenis syndrome
GPathogenic
RAI1
(D76N)
Single nucleotide variant
(missense variant)
Smith-Magenis syndrome
+1 more
GUncertain significance
RAI1
(P153L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RAI1
(Q1509fs)
Deletion
(frameshift variant)
Smith-Magenis syndrome
GPathogenic
RAI1
(L1060fs)
Microsatellite
(frameshift variant)
Smith-Magenis syndrome
GPathogenic
AKAP10, ALDH3A1
+43 more
Copy number loss
Smith-Magenis syndrome
GPathogenic
RAI1
(P1617S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
RAI1
(A973G)
Single nucleotide variant
(missense variant)
Smith-Magenis syndrome
GUncertain significance
RAI1
(S1656C)
Single nucleotide variant
(missense variant)
Smith-Magenis syndrome
GUncertain significance
RAI1
(D142Y)
Single nucleotide variant
(missense variant)
Smith-Magenis syndrome
GUncertain significance
RAI1
(P1295S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
RAI1
(R1217W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RAI1
(G800fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
RAI1
(Y236C)
Single nucleotide variant
(missense variant)
Smith-Magenis syndrome
GLikely benign
RAI1
(A1351S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
RAI1
(V653fs)
Microsatellite
(frameshift variant)
Intellectual disability
+1 more
GLikely pathogenic
RAI1
(Q287*)
Single nucleotide variant
(nonsense)
Smith-Magenis syndrome
GLikely pathogenic
RAI1
(L865P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
RAI1
(R1561*)
Single nucleotide variant
(nonsense)
Smith-Magenis syndrome
+1 more
GPathogenic/Likely pathogenic
RAI1
(R1160W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RAI1
(P630A)
Single nucleotide variant
(missense variant)
Smith-Magenis syndrome
GUncertain significance
RAI1
(N1254D)
Single nucleotide variant
(missense variant)
Smith-Magenis syndrome
GLikely benign
RAI1
(T207S)
Single nucleotide variant
(missense variant)
Smith-Magenis syndrome
GUncertain significance
RAI1
(S357fs)
Insertion
(frameshift variant)
Smith-Magenis syndrome
GPathogenic
RAI1
(D1605fs)
Deletion
(frameshift variant)
Smith-Magenis syndrome
GPathogenic
RAI1
(W746*)
Single nucleotide variant
(nonsense)
Smith-Magenis syndrome
GLikely pathogenic
RAI1
(R596Q)
Single nucleotide variant
(missense variant)
Smith-Magenis syndrome
+3 more
GConflicting classifications of pathogenicity
AKAP10, ALDH3A1
+47 more
Copy number loss
Smith-Magenis syndrome
GPathogenic
RAI1
(E1065fs)
Microsatellite
(frameshift variant)
Smith-Magenis syndrome
GPathogenic
SMS
(V194G +1 more)
Single nucleotide variant
(missense variant)
Smith-Magenis syndrome
GLikely pathogenic
RAI1
(F1843S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
RAI1
Microsatellite
(inframe_deletion)
not provided
+2 more
GBenign/Likely benign
RAI1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
RAI1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
RAI1
(Q280fs)
Deletion
(frameshift variant)
Smith-Magenis syndrome
+2 more
GBenign
RAI1
(G1197R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
RAI1
(L825fs)
Duplication
(frameshift variant)
Smith-Magenis syndrome
GPathogenic
RAI1
(R1559fs)
Duplication
(frameshift variant)
Smith-Magenis syndrome
GPathogenic
RAI1
(D1885N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
RAI1
(D1299N)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
RAI1
(S1049L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
RAI1
(E491K)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
RAI1
(G37R)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
RAI1
(K989fs)
Microsatellite
(frameshift variant)
Inborn genetic diseases
+2 more
GPathogenic
RAI1
(Q280fs)
Deletion
(frameshift variant)
not specified
+3 more
GBenign
RAI1
(S583N)
Single nucleotide variant
(missense variant)
Smith-Magenis syndrome
+1 more
GUncertain significance
RAI1
(P1432L)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
RAI1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
MIR33B, RAI1
+2 more
Deletion
Smith-Magenis syndrome
GPathogenic
RAI1
(G1197V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
RAI1
(G1655S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
Deletion
Smith-Magenis syndrome
GPathogenic
RAI1
(R1217Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
RAI1
(W758*)
Single nucleotide variant
(nonsense)
Smith-Magenis syndrome
GPathogenic
RAI1
(P242L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
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