U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LZTR1
(Q762*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
SMARCB1
Single nucleotide variant
(intron variant)
Schwannomatosis
GPathogenic
SMARCB1
Single nucleotide variant
(intron variant)
Schwannomatosis
GPathogenic
SMARCB1
(E113* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
LZTR1
(V125fs)
Deletion
(frameshift variant)
Schwannomatosis
+1 more
GPathogenic/Likely pathogenic
SMARCB1
Duplication
(3 prime UTR variant)
Rhabdoid tumor predisposition syndrome
+2 more
GBenign
SMARCB1
Duplication
(3 prime UTR variant)
Rhabdoid tumor predisposition syndrome
+2 more
GUncertain significance
SMARCB1
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
SMARCB1
Single nucleotide variant
(5 prime UTR variant)
Rhabdoid tumor predisposition syndrome
+2 more
GUncertain significance
LZTR1
(R362*)
Single nucleotide variant
(nonsense)
Noonan syndrome 10
+8 more
GPathogenic/Likely pathogenic
DERL3, SMARCB1
Duplication
Rhabdoid tumor predisposition syndrome 1
+1 more
GUncertain significance
DERL3, SMARCB1
Duplication
Rhabdoid tumor predisposition syndrome 1
+1 more
GUncertain significance
LZTR1
(R466Q)
Single nucleotide variant
(missense variant)
Schwannomatosis 2
+5 more
GLikely pathogenic
LZTR1
(S122L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
Format
Items per page
Sort by
Choose Destination