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Links from MedGen

Items: 69

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SMARCB1
(H168Y +3 more)
Single nucleotide variant
(missense variant)
Rhabdoid tumor predisposition syndrome 1
+1 more
GUncertain significance
SMARCB1
Single nucleotide variant
(intron variant)
Rhabdoid tumor predisposition syndrome 1
GUncertain significance
SMARCB1
(A231G +3 more)
Single nucleotide variant
(missense variant)
Rhabdoid tumor predisposition syndrome 1
GUncertain significance
SMARCB1
(D187fs +3 more)
Duplication
(frameshift variant)
Rhabdoid tumor predisposition syndrome 1
GPathogenic
SMARCB1
(R252C +3 more)
Single nucleotide variant
(missense variant)
Rhabdoid tumor predisposition syndrome 1
+2 more
GUncertain significance
SMARCB1
(T205R +3 more)
Single nucleotide variant
(missense variant)
Rhabdoid tumor predisposition syndrome 1
+2 more
GUncertain significance
SMARCB1
(A337V +3 more)
Single nucleotide variant
(missense variant)
Rhabdoid tumor predisposition syndrome 1
+1 more
GUncertain significance
SMARCB1
(E354fs +3 more)
Microsatellite
(frameshift variant)
Rhabdoid tumor predisposition syndrome 1
GPathogenic
SMARCB1
(R149* +1 more)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
SMARCB1
(R334Q +3 more)
Single nucleotide variant
(missense variant)
Rhabdoid tumor predisposition syndrome 1
+2 more
GUncertain significance
SMARCB1
(M27V)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
SMARCB1
(G160A +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
SMARCB1
Single nucleotide variant
(3 prime UTR variant)
Schwannomatosis 1
+1 more
GUncertain significance
SMARCB1
Single nucleotide variant
(3 prime UTR variant)
Schwannomatosis 1
+1 more
GBenign
SMARCB1
Single nucleotide variant
(5 prime UTR variant)
not provided
+2 more
GBenign/Likely benign
SMARCB1
Single nucleotide variant
(5 prime UTR variant)
Rhabdoid tumor predisposition syndrome 1
+1 more
GUncertain significance
SMARCB1
Single nucleotide variant
(intron variant)
Schwannomatosis 1
+1 more
GUncertain significance
SMARCB1
Single nucleotide variant
(3 prime UTR variant)
Schwannomatosis 1
+1 more
GUncertain significance
SMARCB1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SMARCB1
Single nucleotide variant
(5 prime UTR variant)
Rhabdoid tumor predisposition syndrome 1
+2 more
GBenign/Likely benign
SMARCB1
Single nucleotide variant
(3 prime UTR variant)
Schwannomatosis 1
+1 more
GUncertain significance
SMARCB1
Single nucleotide variant
(3 prime UTR variant)
Schwannomatosis 1
+1 more
GUncertain significance
SMARCB1
Single nucleotide variant
(intron variant)
Rhabdoid tumor predisposition syndrome 1
+2 more
GUncertain significance
SMARCB1
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
SMARCB1
(G271fs +3 more)
Deletion
(frameshift variant)
Rhabdoid tumor predisposition syndrome 1
GPathogenic
SMARCB1
(T399M +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
SMARCB1
Deletion
Rhabdoid tumor predisposition syndrome 1
GLikely pathogenic
SMARCB1
Single nucleotide variant
(synonymous variant)
Rhabdoid tumor predisposition syndrome 1
+3 more
GConflicting classifications of pathogenicity
SMARCB1
(M4del)
Microsatellite
(inframe_deletion +1 more)
Rhabdoid tumor predisposition syndrome 1
+1 more
GUncertain significance
SMARCB1
Single nucleotide variant
(intron variant)
Rhabdoid tumor predisposition syndrome 1
+1 more
GLikely benign
SMARCB1
(T250M +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
SMARCB1
(T232M +3 more)
Single nucleotide variant
(missense variant)
Rhabdoid tumor predisposition syndrome 1
+2 more
GConflicting classifications of pathogenicity
SMARCB1
(K62*)
Single nucleotide variant
(nonsense)
Rhabdoid tumor predisposition syndrome 1
GPathogenic
SMARCB1
Duplication
Rhabdoid tumor predisposition syndrome 1
GUncertain significance
SMARCB1
Deletion
not provided
GPathogenic
SMARCB1
Duplication
Rhabdoid tumor predisposition syndrome 1
GUncertain significance
SMARCB1
Deletion
Rhabdoid tumor predisposition syndrome 1
GPathogenic
SMARCE1
Single nucleotide variant
(synonymous variant)
Rhabdoid tumor predisposition syndrome 1
+2 more
GLikely benign
SMARCE1
Single nucleotide variant
(synonymous variant)
Familial meningioma
+3 more
GLikely benign
SMARCB1
Single nucleotide variant
(synonymous variant)
Rhabdoid tumor predisposition syndrome 1
+3 more
GConflicting classifications of pathogenicity
SMARCB1
Single nucleotide variant
(synonymous variant)
Rhabdoid tumor predisposition syndrome 1
+3 more
GBenign/Likely benign
SMARCE1
Single nucleotide variant
(synonymous variant)
Familial meningioma
+2 more
GLikely benign
SMARCB1
Single nucleotide variant
(synonymous variant)
Rhabdoid tumor predisposition syndrome 1
+4 more
GBenign/Likely benign
SMARCB1
Single nucleotide variant
(3 prime UTR variant)
Rhabdoid tumor predisposition syndrome 1
+1 more
GBenign
SMARCB1
Single nucleotide variant
(3 prime UTR variant)
Rhabdoid tumor predisposition syndrome 1
+1 more
GUncertain significance
SMARCB1
Single nucleotide variant
(3 prime UTR variant)
Schwannomatosis 1
+1 more
GUncertain significance
SMARCB1
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GLikely benign
SMARCB1
Single nucleotide variant
(3 prime UTR variant)
Schwannomatosis 1
+1 more
GLikely benign
SMARCB1
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
SMARCB1
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
SMARCB1
(A203T +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
SMARCB1
Single nucleotide variant
(5 prime UTR variant)
Schwannomatosis 1
+1 more
GBenign
SMARCB1
Single nucleotide variant
(5 prime UTR variant)
Schwannomatosis 1
+1 more
GUncertain significance
SMARCB1
Single nucleotide variant
(5 prime UTR variant)
not provided
+2 more
GBenign/Likely benign
SMARCB1
Single nucleotide variant
(5 prime UTR variant)
not provided
+2 more
GBenign
SMARCB1
Single nucleotide variant
(5 prime UTR variant)
Schwannomatosis 1
+1 more
GUncertain significance
SMARCB1
Single nucleotide variant
(5 prime UTR variant)
Rhabdoid tumor predisposition syndrome 1
+1 more
GUncertain significance
SMARCB1
Single nucleotide variant
(synonymous variant)
Rhabdoid tumor predisposition syndrome 1
+4 more
GBenign/Likely benign
SMARCE1
(E411*)
Single nucleotide variant
(nonsense)
Familial meningioma
+3 more
GBenign/Likely benign
DERL3, SMARCB1
Duplication
Rhabdoid tumor predisposition syndrome 1
+1 more
GUncertain significance
SMARCB1
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
SMARCB1
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign/Likely benign
DERL3, SMARCB1
Duplication
Rhabdoid tumor predisposition syndrome 1
+1 more
GUncertain significance
SMARCB1
(M1V)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GBenign/Likely benign
SMARCB1
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign
SMARCB1
(K364del +3 more)
Microsatellite
(inframe_deletion)
not provided
+4 more
GPathogenic
SMARCB1
Duplication
(splice acceptor variant +1 more)
Schwannomatosis 1
+1 more
GPathogenic
SMARCB1
Single nucleotide variant
(splice donor variant)
Hereditary cancer-predisposing syndrome
GLikely pathogenic
SMARCB1
(Q198fs +3 more)
Deletion
(frameshift variant)
Rhabdoid tumor predisposition syndrome 1
GPathogenic
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