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Links from MedGen

Items: 1 to 100 of 857

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IQCJ-SCHIP1, SCHIP1
(R220* +19 more)
Single nucleotide variant
(nonsense +1 more)
Familial meningioma
GLikely pathogenic
SMARCE1
Single nucleotide variant
(intron variant)
Familial meningioma
GUncertain significance
SMARCE1
(R158L)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
(I248T)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
(N392S)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
Single nucleotide variant
(intron variant)
Familial meningioma
GUncertain significance
SMARCE1
Single nucleotide variant
(synonymous variant)
Familial meningioma
GLikely benign
SMARCE1
(R40K)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
(R272fs)
Deletion
(frameshift variant)
Familial meningioma
GPathogenic
SMARCE1
(N268D)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
(E321V)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
(A292V)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
Single nucleotide variant
(intron variant)
Familial meningioma
GUncertain significance
SMARCE1
(I124V)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
Single nucleotide variant
(intron variant)
Familial meningioma
GLikely benign
SMARCE1
(K333del)
Microsatellite
(inframe_deletion)
Familial meningioma
GUncertain significance
SMARCE1
Single nucleotide variant
(synonymous variant)
Familial meningioma
GLikely benign
SMARCE1
(E343A)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
(A307V)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
(V374fs)
Deletion
(frameshift variant)
Familial meningioma
GUncertain significance
SMARCE1
Single nucleotide variant
(synonymous variant)
Familial meningioma
GLikely benign
SMARCE1
(D407Y)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
Single nucleotide variant
(intron variant)
Familial meningioma
GLikely benign
SMARCE1
(P405S)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
Single nucleotide variant
(intron variant)
Familial meningioma
GLikely benign
SMARCE1
(A14T)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
Single nucleotide variant
(intron variant)
Familial meningioma
GUncertain significance
SMARCE1
Single nucleotide variant
(intron variant)
Familial meningioma
GLikely benign
SMARCE1
Single nucleotide variant
(intron variant)
Familial meningioma
GLikely benign
SMARCE1
Deletion
(intron variant)
Familial meningioma
GBenign
SMARCE1
Single nucleotide variant
(synonymous variant)
Familial meningioma
GLikely benign
SMARCE1
(E122G)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
Single nucleotide variant
(intron variant)
Familial meningioma
GUncertain significance
SMARCE1
(Y126D)
Single nucleotide variant
(missense variant)
Familial meningioma
GPathogenic
SMARCE1
(P213S)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
Single nucleotide variant
(intron variant)
Familial meningioma
GLikely benign
SMARCE1
(Q310E)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
Single nucleotide variant
(synonymous variant)
Familial meningioma
GLikely benign
SMARCE1
Single nucleotide variant
(synonymous variant)
Familial meningioma
GLikely benign
SMARCE1
Single nucleotide variant
(intron variant)
Familial meningioma
GLikely benign
SMARCE1
Single nucleotide variant
(intron variant)
Familial meningioma
GLikely benign
SMARCE1
(E372G)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
Duplication
(intron variant)
Familial meningioma
GBenign
SMARCE1
Single nucleotide variant
(intron variant)
Familial meningioma
GLikely benign
SMARCE1
Single nucleotide variant
(synonymous variant)
Familial meningioma
GUncertain significance
SMARCE1
(M235I)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
(M340V)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
Single nucleotide variant
(intron variant)
Familial meningioma
GLikely benign
SMARCE1
Single nucleotide variant
(intron variant)
Familial meningioma
GUncertain significance
SMARCE1
(E323K)
Single nucleotide variant
(missense variant)
Familial meningioma
+1 more
GUncertain significance
SMARCE1
Single nucleotide variant
(intron variant)
Familial meningioma
GLikely benign
SMARCE1
(M188L)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
Single nucleotide variant
(intron variant)
Familial meningioma
GLikely benign
SMARCE1
(Q232*)
Single nucleotide variant
(nonsense)
Familial meningioma
GPathogenic
SMARCE1
Single nucleotide variant
(intron variant)
Familial meningioma
GLikely benign
SMARCE1
(P320A)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
Single nucleotide variant
(synonymous variant)
Familial meningioma
GLikely benign
SMARCE1
(S383R)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
(D407V)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
Single nucleotide variant
(intron variant)
Familial meningioma
GUncertain significance
SMARCE1
Single nucleotide variant
(synonymous variant)
Familial meningioma
GLikely benign
SMARCE1
(L202R)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
(I203L)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
(P45A)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
(N88S)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
(E330G)
Indel
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
(A287V)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
(S383T)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
(E359K)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
(A8T)
Single nucleotide variant
(missense variant)
Familial meningioma
+1 more
GUncertain significance
SMARCE1
(G56S)
Single nucleotide variant
(missense variant)
Familial meningioma
+1 more
GUncertain significance
SMARCE1
(E306K)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
Single nucleotide variant
(intron variant)
Familial meningioma
GLikely benign
SMARCE1
Single nucleotide variant
(synonymous variant)
Familial meningioma
GLikely benign
SMARCE1
Single nucleotide variant
(intron variant)
Familial meningioma
GLikely benign
SMARCE1
Single nucleotide variant
(intron variant)
Familial meningioma
GLikely benign
SMARCE1
(G381E)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
Single nucleotide variant
(synonymous variant)
Familial meningioma
+1 more
GLikely benign
SMARCE1
Single nucleotide variant
(intron variant)
Familial meningioma
GLikely benign
SMARCE1
Single nucleotide variant
(intron variant)
Familial meningioma
GLikely benign
SMARCE1
Single nucleotide variant
(intron variant)
Familial meningioma
GLikely benign
SMARCE1
Single nucleotide variant
(intron variant)
Familial meningioma
GLikely benign
SMARCE1
Single nucleotide variant
(synonymous variant)
Familial meningioma
GLikely benign
SMARCE1
(I206M)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
(V319F)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
(K271E)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
(A132V)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
(E156G)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
(E209D)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
(S162F)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
(P169fs)
Deletion
(frameshift variant)
Familial meningioma
GPathogenic
SMARCE1
(E312K)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
(P13L)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
(Q354R)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
Single nucleotide variant
(intron variant)
Familial meningioma
GUncertain significance
SMARCE1
(D335E)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
Single nucleotide variant
(synonymous variant)
Familial meningioma
GLikely benign
SMARCE1
(D90N)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
(I404K)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
LOC130004614, SUFU
(P20R)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
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