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Links from MedGen

Items: 1 to 100 of 664

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SMARCA4
(L893R)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal dominant 16
GLikely pathogenic
SMARCA4
(S1238A)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal dominant 16
GLikely pathogenic
SMARCA4
(R451L)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal dominant 16
GLikely pathogenic
SMARCA4
Single nucleotide variant
(splice acceptor variant)
Intellectual disability, autosomal dominant 16
GLikely pathogenic
SMARCA4
(Q1500R +6 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal dominant 16
GUncertain significance
SMARCA4
(A186G)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal dominant 16
GUncertain significance
SMARCA4
(E449K)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal dominant 16
GUncertain significance
SMARCA4
(E1023G)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal dominant 16
GLikely pathogenic
SMARCA4
Single nucleotide variant
(splice acceptor variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
SMARCA4
(L476R)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal dominant 16
GLikely pathogenic
SMARCA4
(Q895*)
Single nucleotide variant
(nonsense +1 more)
Intellectual disability, autosomal dominant 16
GPathogenic
SMARCA4
(N916S)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal dominant 16
GLikely pathogenic
SMARCA4
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal dominant 16
GUncertain significance
SMARCA4
(N817I)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal dominant 16
GUncertain significance
SMARCA4
(R842Q)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal dominant 16
GLikely pathogenic
SMARCA4
(N1047H)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal dominant 16
GLikely pathogenic
SMARCA4
Single nucleotide variant
(intron variant)
Rhabdoid tumor predisposition syndrome 2
+1 more
GLikely benign
SMARCA4
Single nucleotide variant
(intron variant)
Rhabdoid tumor predisposition syndrome 2
+1 more
GLikely benign
SMARCA4
Single nucleotide variant
(intron variant)
Rhabdoid tumor predisposition syndrome 2
+1 more
GLikely benign
SMARCA4
(V1374I +3 more)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
+2 more
GUncertain significance
SMARCA4
(T565A)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal dominant 16
+2 more
GUncertain significance
SMARCA4
(H1273R)
Single nucleotide variant
(intron variant +1 more)
Rhabdoid tumor predisposition syndrome 2
+1 more
GConflicting classifications of pathogenicity
SMARCA4
(W825C)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal dominant 16
GPathogenic
SMARCA4
(W818*)
Single nucleotide variant
(nonsense +1 more)
Intellectual disability, autosomal dominant 16
GLikely pathogenic
SMARCA4
(R978Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
SMARCA4
(E488K)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal dominant 16
GLikely pathogenic
SMARCA4
(E672Q)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal dominant 16
GUncertain significance
SMARCA4
(R1244C)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
SMARCA4
(G1159A)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal dominant 16
GLikely pathogenic
SMARCA4
(R425W)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal dominant 16
+2 more
GUncertain significance
SMARCA4
(P913L)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal dominant 16
+1 more
GLikely pathogenic
SMARCA4
(M886V)
Single nucleotide variant
(missense variant +1 more)
SMARCA4-related BAFopathy
+4 more
GConflicting classifications of pathogenicity
SMARCA4
(R549L)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal dominant 16
+1 more
GLikely pathogenic
SMARCA4
(E1600D +5 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal dominant 16
+3 more
GUncertain significance
SMARCA4
(S1556F +5 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
SMARCA4
(T794M)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal dominant 16
+2 more
GUncertain significance
SMARCA4
Duplication
(3 prime UTR variant +1 more)
Intellectual disability, autosomal dominant 16
GUncertain significance
SMARCA4
(G1444R +5 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal dominant 16
+2 more
GUncertain significance
SMARCA4
(R549C)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
SMARCA4
Duplication
(inframe_insertion +1 more)
not provided
+3 more
GUncertain significance
SMARCA4
(A677T)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal dominant 16
+1 more
GUncertain significance
SMARCA4
(A826S)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
SMARCA4
Deletion
(intron variant)
Rhabdoid tumor predisposition syndrome 2
+3 more
GUncertain significance
SMARCA4
(P61L)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal dominant 16
+2 more
GUncertain significance
SMARCA4
(D1493N +5 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
SMARCA4
(R451C)
Single nucleotide variant
(missense variant +1 more)
SMARCA4-related BAFopathy
+3 more
GConflicting classifications of pathogenicity
SMARCA4
(L177V)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
SMARCA4
(T1363M +3 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
SMARCA4
(A450S)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal dominant 16
+2 more
GUncertain significance
SMARCA4
(Q1411*)
Single nucleotide variant
(nonsense +1 more)
Intellectual disability, autosomal dominant 16
+1 more
GConflicting classifications of pathogenicity
SMARCA4
(D696N)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
+3 more
GUncertain significance
SMARCA4
(P647L)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
SMARCA4
(G264V)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
+2 more
GUncertain significance
SMARCA4
(P261H)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
+2 more
GUncertain significance
SMARCA4
Single nucleotide variant
(splice acceptor variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
SMARCA4
(P234L)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal dominant 16
+2 more
GUncertain significance
SMARCA4
(K1623R +5 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
SMARCA4
(E1540D +5 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
SMARCA4
(Q1531H +5 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
SMARCA4
(R1480H +5 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
SMARCA4
(S1460L +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
SMARCA4
(V1450I +5 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
SMARCA4
(A1435S +3 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
SMARCA4
(K1464N +3 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
SMARCA4
(S1452P +3 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
SMARCA4
(R1399H +3 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
SMARCA4
(T1390A +3 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
SMARCA4
(I1367M +3 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
SMARCA4
(S140P)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
SMARCA4
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
SMARCA4
(F1316Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
SMARCA4
Single nucleotide variant
(synonymous variant +1 more)
Intellectual disability, autosomal dominant 16
+2 more
GConflicting classifications of pathogenicity
SMARCA4
(D1284N)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
SMARCA4
(A1272T)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
SMARCA4
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
SMARCA4
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
SMARCA4
(A1117S)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
SMARCA4
(S111G)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
+2 more
GUncertain significance
SMARCA4
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GLikely benign
SMARCA4
(A1094T)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
SMARCA4
(R1093Q)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
SMARCA4
(P320S)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
SMARCA4
(D1086N)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
SMARCA4
Single nucleotide variant
(synonymous variant +1 more)
Intellectual disability, autosomal dominant 16
+3 more
GConflicting classifications of pathogenicity
SMARCA4
(M106V)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
SMARCA4
(M289L)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
SMARCA4
Single nucleotide variant
(intron variant)
not provided
+3 more
GUncertain significance
SMARCA4
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
SMARCA4
(V995I)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
SMARCA4
(R99W)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
SMARCA4
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
SMARCA4
Single nucleotide variant
(synonymous variant +1 more)
Intellectual disability, autosomal dominant 16
+2 more
GLikely benign
SMARCA4
(V698I)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
SMARCA4
(D696E)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
SMARCA4
(G637R)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
SMARCA4
(A636P)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
SMARCA4
(A633I)
Indel
(missense variant +1 more)
not provided
+3 more
GUncertain significance
SMARCA4
(M612I)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
+2 more
GUncertain significance
SMARCA4
(D607V)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
+3 more
GUncertain significance
SMARCA4
(G60R)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
+2 more
GUncertain significance
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