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Links from MedGen

Items: 1 to 100 of 229

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SMARCA2
(W912C)
Single nucleotide variant
(missense variant +1 more)
Nicolaides-Baraitser syndrome
GLikely pathogenic
SMARCA2
(M856V)
Single nucleotide variant
(missense variant)
Nicolaides-Baraitser syndrome
GUncertain significance
SMARCA2
(T764A)
Single nucleotide variant
(missense variant)
Nicolaides-Baraitser syndrome
GUncertain significance
SMARCA2
(P292L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SMARCA2
Single nucleotide variant
(splice donor variant)
Blepharophimosis-impaired intellectual development syndrome
+1 more
GUncertain significance
SMARCA2
(A1161P +1 more)
Single nucleotide variant
(missense variant)
Nicolaides-Baraitser syndrome
GPathogenic
SMARCA2
(R420C)
Single nucleotide variant
(missense variant)
Nicolaides-Baraitser syndrome
GLikely pathogenic
SMARCA2
(R811C)
Single nucleotide variant
(missense variant)
Nicolaides-Baraitser syndrome
GUncertain significance
SMARCA2
(E1166K +1 more)
Single nucleotide variant
(missense variant)
Nicolaides-Baraitser syndrome
GLikely benign
SMARCA2
(V1406M)
Single nucleotide variant
(missense variant +1 more)
Nicolaides-Baraitser syndrome
Gnot provided
SMARCA2
Insertion
(inframe_insertion)
Blepharophimosis-impaired intellectual development syndrome
+1 more
GUncertain significance
SMARCA2
(I1009T +1 more)
Single nucleotide variant
(missense variant)
Nicolaides-Baraitser syndrome
GUncertain significance
SMARCA2
(P886Q +1 more)
Single nucleotide variant
(missense variant)
Nicolaides-Baraitser syndrome
GLikely pathogenic
SMARCA2
Duplication
(intron variant)
Nicolaides-Baraitser syndrome
GUncertain significance
SMARCA2
(P267R)
Single nucleotide variant
(missense variant)
Nicolaides-Baraitser syndrome
GUncertain significance
SMARCA2
(T931R +1 more)
Single nucleotide variant
(missense variant)
Nicolaides-Baraitser syndrome
GLikely pathogenic
SMARCA2
(L888F +1 more)
Single nucleotide variant
(missense variant)
Nicolaides-Baraitser syndrome
GPathogenic
SMARCA2
(G1040S +1 more)
Single nucleotide variant
(missense variant)
Nicolaides-Baraitser syndrome
GPathogenic
SMARCA2
(S709L)
Single nucleotide variant
(missense variant)
Nicolaides-Baraitser syndrome
+1 more
GUncertain significance
SMARCA2
(A914P +1 more)
Single nucleotide variant
(missense variant)
Nicolaides-Baraitser syndrome
GUncertain significance
SMARCA2
Microsatellite
(inframe_deletion)
Nicolaides-Baraitser syndrome
GUncertain significance
SMARCA2
Single nucleotide variant
(intron variant)
Nicolaides-Baraitser syndrome
GUncertain significance
SMARCA2
(D836E)
Single nucleotide variant
(missense variant)
Nicolaides-Baraitser syndrome
GUncertain significance
SMARCA2
(L753H)
Single nucleotide variant
(missense variant)
Nicolaides-Baraitser syndrome
GPathogenic
SMARCA2
(T211M)
Single nucleotide variant
(missense variant)
Nicolaides-Baraitser syndrome
+2 more
GUncertain significance
SMARCA2
(V1111F +1 more)
Single nucleotide variant
(missense variant)
Nicolaides-Baraitser syndrome
GUncertain significance
SMARCA2
(F228L +5 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SMARCA2
(V1490L +5 more)
Single nucleotide variant
(missense variant)
Nicolaides-Baraitser syndrome
+1 more
GUncertain significance
SMARCA2
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SMARCA2
(I678V)
Single nucleotide variant
(missense variant)
Nicolaides-Baraitser syndrome
GUncertain significance
SMARCA2
(A1102G +1 more)
Single nucleotide variant
(missense variant)
Nicolaides-Baraitser syndrome
GPathogenic
SMARCA2
(R445C)
Single nucleotide variant
(missense variant)
Nicolaides-Baraitser syndrome
GUncertain significance
SMARCA2
(T1263M +1 more)
Single nucleotide variant
(missense variant)
Nicolaides-Baraitser syndrome
GLikely pathogenic
SMARCA2
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
SMARCA2
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
SMARCA2
Single nucleotide variant
(intron variant)
Blepharophimosis-impaired intellectual development syndrome
+2 more
GBenign
SMARCA2
Insertion
(intron variant)
Blepharophimosis-impaired intellectual development syndrome
+2 more
GBenign
SMARCA2
(A294T)
Single nucleotide variant
(missense variant)
Nicolaides-Baraitser syndrome
GUncertain significance
SMARCA2
(R107Q +5 more)
Single nucleotide variant
(missense variant)
Nicolaides-Baraitser syndrome
GUncertain significance
SMARCA2
(D1589H +5 more)
Single nucleotide variant
(missense variant)
Nicolaides-Baraitser syndrome
GUncertain significance
SMARCA2
(G92R)
Single nucleotide variant
(missense variant)
Nicolaides-Baraitser syndrome
GUncertain significance
SMARCA2
(G752R)
Single nucleotide variant
(missense variant)
SMARCA2-related BAFopathy
+1 more
GLikely pathogenic
SMARCA2
(V1566I +5 more)
Single nucleotide variant
(missense variant)
Nicolaides-Baraitser syndrome
GUncertain significance
SMARCA2
(P1092A +1 more)
Single nucleotide variant
(missense variant)
Nicolaides-Baraitser syndrome
GUncertain significance
SMARCA2
(I518T)
Single nucleotide variant
(missense variant)
SMARCA2-related condition
GLikely pathogenic
SMARCA2
(D1089E +1 more)
Single nucleotide variant
(missense variant)
Nicolaides-Baraitser syndrome
GLikely pathogenic
SMARCA2
(Q1016E +1 more)
Single nucleotide variant
(missense variant)
Nicolaides-Baraitser syndrome
GPathogenic
SMARCA2
(S1019C +1 more)
Single nucleotide variant
(missense variant)
Nicolaides-Baraitser syndrome
GLikely benign
SMARCA2
(R1047H +1 more)
Single nucleotide variant
(missense variant)
Blepharophimosis-impaired intellectual development syndrome
+1 more
GPathogenic
SMARCA2
Single nucleotide variant
(intron variant)
Nicolaides-Baraitser syndrome
GLikely benign
SMARCA2
(H854L)
Single nucleotide variant
(missense variant)
Nicolaides-Baraitser syndrome
GPathogenic
SMARCA2
(W795R)
Single nucleotide variant
(missense variant)
Nicolaides-Baraitser syndrome
GPathogenic
SMARCA2
Single nucleotide variant
(splice acceptor variant)
Nicolaides-Baraitser syndrome
GLikely pathogenic
SMARCA2
(Q1142P +1 more)
Single nucleotide variant
(missense variant)
Nicolaides-Baraitser syndrome
GLikely pathogenic
SMARCA2
(M130L +5 more)
Single nucleotide variant
(missense variant)
Nicolaides-Baraitser syndrome
GUncertain significance
SMARCA2
(D1026E +1 more)
Single nucleotide variant
(missense variant)
Nicolaides-Baraitser syndrome
GUncertain significance
SMARCA2
(K893R +1 more)
Single nucleotide variant
(missense variant)
Nicolaides-Baraitser syndrome
GUncertain significance
SMARCA2
(V307M)
Single nucleotide variant
(missense variant)
Nicolaides-Baraitser syndrome
GUncertain significance
SMARCA2
Single nucleotide variant
(3 prime UTR variant)
Nicolaides-Baraitser syndrome
GUncertain significance
SMARCA2
Single nucleotide variant
(3 prime UTR variant)
Nicolaides-Baraitser syndrome
GUncertain significance
SMARCA2
(P216R +5 more)
Single nucleotide variant
(missense variant)
Nicolaides-Baraitser syndrome
GUncertain significance
SMARCA2
(R1549Q +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
SMARCA2
(G1416A)
Single nucleotide variant
(missense variant +1 more)
Nicolaides-Baraitser syndrome
+1 more
GBenign/Likely benign
SMARCA2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
SMARCA2
(D66E +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GLikely benign
SMARCA2
(S690R)
Single nucleotide variant
(missense variant)
Nicolaides-Baraitser syndrome
GUncertain significance
SMARCA2
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SMARCA2
Single nucleotide variant
(synonymous variant)
Nicolaides-Baraitser syndrome
GBenign
SMARCA2
(P173S)
Single nucleotide variant
(missense variant)
Nicolaides-Baraitser syndrome
GBenign
SMARCA2
Single nucleotide variant
(synonymous variant)
Nicolaides-Baraitser syndrome
+1 more
GBenign/Likely benign
SMARCA2
Single nucleotide variant
(intron variant)
Nicolaides-Baraitser syndrome
GUncertain significance
SMARCA2
Single nucleotide variant
(synonymous variant)
Nicolaides-Baraitser syndrome
GUncertain significance
SMARCA2
Single nucleotide variant
(synonymous variant)
Nicolaides-Baraitser syndrome
GBenign
SMARCA2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SMARCA2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
SMARCA2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
SMARCA2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SMARCA2
Single nucleotide variant
(synonymous variant)
Nicolaides-Baraitser syndrome
GUncertain significance
SMARCA2
Single nucleotide variant
(3 prime UTR variant)
Nicolaides-Baraitser syndrome
GUncertain significance
SMARCA2
Single nucleotide variant
(3 prime UTR variant)
Nicolaides-Baraitser syndrome
GUncertain significance
SMARCA2
Single nucleotide variant
(3 prime UTR variant)
Nicolaides-Baraitser syndrome
GUncertain significance
SMARCA2
Single nucleotide variant
(3 prime UTR variant)
Nicolaides-Baraitser syndrome
GUncertain significance
SMARCA2
Single nucleotide variant
(3 prime UTR variant)
Nicolaides-Baraitser syndrome
GUncertain significance
SMARCA2
Single nucleotide variant
(3 prime UTR variant)
Nicolaides-Baraitser syndrome
GUncertain significance
SMARCA2
Single nucleotide variant
(3 prime UTR variant)
Nicolaides-Baraitser syndrome
GUncertain significance
SMARCA2
(M1256I +1 more)
Single nucleotide variant
(missense variant)
Nicolaides-Baraitser syndrome
GUncertain significance
SMARCA2
Single nucleotide variant
(synonymous variant)
Nicolaides-Baraitser syndrome
GUncertain significance
SMARCA2
Single nucleotide variant
(synonymous variant)
Nicolaides-Baraitser syndrome
GUncertain significance
SMARCA2
Single nucleotide variant
(synonymous variant)
Nicolaides-Baraitser syndrome
GUncertain significance
SMARCA2
Single nucleotide variant
(synonymous variant)
Nicolaides-Baraitser syndrome
GUncertain significance
SMARCA2
Single nucleotide variant
(synonymous variant)
Nicolaides-Baraitser syndrome
GLikely benign
SMARCA2
(P297Q)
Single nucleotide variant
(missense variant)
Nicolaides-Baraitser syndrome
+1 more
GUncertain significance
SMARCA2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
SMARCA2
(Q250H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
LOC130001461, SMARCA2
Single nucleotide variant
(5 prime UTR variant)
Nicolaides-Baraitser syndrome
GUncertain significance
SMARCA2
Single nucleotide variant
(intron variant)
Nicolaides-Baraitser syndrome
+1 more
GUncertain significance
SMARCA2
(Q245L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
SMARCA2
Single nucleotide variant
(synonymous variant)
Nicolaides-Baraitser syndrome
GUncertain significance
SMARCA2
Single nucleotide variant
(synonymous variant)
Nicolaides-Baraitser syndrome
GUncertain significance
SMARCA2
(Q230P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
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