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Links from MedGen

Items: 1 to 100 of 886

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SMARCAL1
Single nucleotide variant
(intron variant)
Schimke immuno-osseous dysplasia
GLikely benign
SMARCAL1
(S329*)
Single nucleotide variant
(nonsense)
Schimke immuno-osseous dysplasia
GPathogenic
SMARCAL1
(W843*)
Single nucleotide variant
(nonsense)
Schimke immuno-osseous dysplasia
GPathogenic
SMARCAL1
(L143fs)
Deletion
(frameshift variant)
Schimke immuno-osseous dysplasia
GPathogenic
SMARCAL1
(L646fs)
Duplication
(frameshift variant)
Schimke immuno-osseous dysplasia
GPathogenic
SMARCAL1
Single nucleotide variant
(splice donor variant)
Schimke immuno-osseous dysplasia
GLikely pathogenic
SMARCAL1
Single nucleotide variant
(intron variant)
Schimke immuno-osseous dysplasia
GLikely benign
SMARCAL1
Single nucleotide variant
(splice acceptor variant)
Schimke immuno-osseous dysplasia
GLikely pathogenic
SMARCAL1
Single nucleotide variant
(intron variant)
Schimke immuno-osseous dysplasia
GLikely benign
SMARCAL1
Single nucleotide variant
(synonymous variant)
Schimke immuno-osseous dysplasia
GLikely benign
SMARCAL1
Single nucleotide variant
(synonymous variant)
Schimke immuno-osseous dysplasia
GLikely benign
SMARCAL1
Single nucleotide variant
(intron variant)
Schimke immuno-osseous dysplasia
GLikely benign
SMARCAL1
Single nucleotide variant
(synonymous variant)
Schimke immuno-osseous dysplasia
GLikely benign
SMARCAL1
Single nucleotide variant
(synonymous variant)
Schimke immuno-osseous dysplasia
GLikely benign
SMARCAL1
Single nucleotide variant
(intron variant)
Schimke immuno-osseous dysplasia
GLikely benign
SMARCAL1
Single nucleotide variant
(intron variant)
Schimke immuno-osseous dysplasia
GLikely benign
SMARCAL1
Single nucleotide variant
(splice acceptor variant)
Schimke immuno-osseous dysplasia
GLikely pathogenic
SMARCAL1
Single nucleotide variant
(synonymous variant)
Schimke immuno-osseous dysplasia
GLikely benign
SMARCAL1
Single nucleotide variant
(splice donor variant)
Schimke immuno-osseous dysplasia
GLikely pathogenic
SMARCAL1
Single nucleotide variant
(synonymous variant)
Schimke immuno-osseous dysplasia
GLikely benign
SMARCAL1
Single nucleotide variant
(synonymous variant)
Schimke immuno-osseous dysplasia
GLikely benign
SMARCAL1
(Q351*)
Single nucleotide variant
(nonsense)
Schimke immuno-osseous dysplasia
GPathogenic
SMARCAL1
Single nucleotide variant
(synonymous variant)
Schimke immuno-osseous dysplasia
GLikely benign
SMARCAL1
Single nucleotide variant
(synonymous variant)
Schimke immuno-osseous dysplasia
GLikely benign
SMARCAL1
Single nucleotide variant
(synonymous variant)
Schimke immuno-osseous dysplasia
GLikely benign
SMARCAL1
Duplication
(intron variant)
Schimke immuno-osseous dysplasia
GLikely benign
SMARCAL1
Single nucleotide variant
(synonymous variant)
Schimke immuno-osseous dysplasia
GLikely benign
SMARCAL1
Duplication
(intron variant)
Schimke immuno-osseous dysplasia
GLikely benign
SMARCAL1
Single nucleotide variant
(intron variant)
Schimke immuno-osseous dysplasia
GLikely benign
SMARCAL1
Single nucleotide variant
(intron variant)
Schimke immuno-osseous dysplasia
GLikely benign
SMARCAL1
Single nucleotide variant
(synonymous variant)
Schimke immuno-osseous dysplasia
GLikely benign
SMARCAL1
(Q770*)
Single nucleotide variant
(nonsense)
Schimke immuno-osseous dysplasia
GPathogenic
SMARCAL1
(S625*)
Single nucleotide variant
(nonsense)
Schimke immuno-osseous dysplasia
GPathogenic
SMARCAL1
(W620*)
Single nucleotide variant
(nonsense)
Schimke immuno-osseous dysplasia
GPathogenic
SMARCAL1
(R611fs)
Deletion
(frameshift variant)
Schimke immuno-osseous dysplasia
GPathogenic
SMARCAL1
Single nucleotide variant
(splice donor variant)
Schimke immuno-osseous dysplasia
GLikely pathogenic
SMARCAL1
Single nucleotide variant
(intron variant)
Schimke immuno-osseous dysplasia
GLikely benign
SMARCAL1
(R674*)
Single nucleotide variant
(nonsense)
Schimke immuno-osseous dysplasia
GPathogenic
SMARCAL1
Single nucleotide variant
(intron variant)
Schimke immuno-osseous dysplasia
GLikely benign
SMARCAL1
Single nucleotide variant
(intron variant)
Schimke immuno-osseous dysplasia
GLikely benign
SMARCAL1
Single nucleotide variant
(synonymous variant)
Schimke immuno-osseous dysplasia
GLikely benign
SMARCAL1
Single nucleotide variant
(synonymous variant)
Schimke immuno-osseous dysplasia
GLikely benign
SMARCAL1
Single nucleotide variant
(intron variant)
Schimke immuno-osseous dysplasia
GLikely benign
SMARCAL1
(V297fs)
Deletion
(frameshift variant)
Schimke immuno-osseous dysplasia
GPathogenic
SMARCAL1
Single nucleotide variant
(intron variant)
Schimke immuno-osseous dysplasia
GLikely benign
SMARCAL1
Single nucleotide variant
(synonymous variant)
Schimke immuno-osseous dysplasia
GLikely benign
SMARCAL1
Single nucleotide variant
(intron variant)
Schimke immuno-osseous dysplasia
GLikely benign
SMARCAL1
Single nucleotide variant
(synonymous variant)
Schimke immuno-osseous dysplasia
GLikely benign
SMARCAL1
Single nucleotide variant
(synonymous variant)
Schimke immuno-osseous dysplasia
GLikely benign
SMARCAL1
(A195fs)
Duplication
(frameshift variant)
Schimke immuno-osseous dysplasia
GPathogenic
SMARCAL1
Single nucleotide variant
(intron variant)
Schimke immuno-osseous dysplasia
GLikely benign
SMARCAL1
Single nucleotide variant
(synonymous variant)
Schimke immuno-osseous dysplasia
GLikely benign
SMARCAL1
Single nucleotide variant
(synonymous variant)
Schimke immuno-osseous dysplasia
GLikely benign
SMARCAL1
(Q604*)
Single nucleotide variant
(nonsense)
Schimke immuno-osseous dysplasia
GPathogenic
SMARCAL1
Deletion
(nonsense)
Schimke immuno-osseous dysplasia
GLikely pathogenic
SMARCAL1
Single nucleotide variant
(synonymous variant)
Schimke immuno-osseous dysplasia
GLikely benign
SMARCAL1
Duplication
Schimke immuno-osseous dysplasia
GUncertain significance
SMARCAL1
Deletion
Schimke immuno-osseous dysplasia
GPathogenic
SMARCAL1
Deletion
Schimke immuno-osseous dysplasia
GLikely pathogenic
SMARCAL1
Deletion
Schimke immuno-osseous dysplasia
GPathogenic
SMARCAL1
(P567Q)
Single nucleotide variant
(missense variant)
Schimke immuno-osseous dysplasia
GUncertain significance
SMARCAL1
Single nucleotide variant
(intron variant)
Schimke immuno-osseous dysplasia
GLikely benign
SMARCAL1
(L900P)
Single nucleotide variant
(missense variant)
Schimke immuno-osseous dysplasia
GUncertain significance
SMARCAL1
(R817C)
Single nucleotide variant
(missense variant)
Schimke immuno-osseous dysplasia
+1 more
GConflicting classifications of pathogenicity
SMARCAL1
(Q319*)
Single nucleotide variant
(nonsense)
Schimke immuno-osseous dysplasia
GPathogenic
SMARCAL1
Single nucleotide variant
(intron variant)
Schimke immuno-osseous dysplasia
GLikely benign
SMARCAL1
(R561H)
Single nucleotide variant
(missense variant)
Schimke immuno-osseous dysplasia
GPathogenic
SMARCAL1
(R754G)
Single nucleotide variant
(missense variant)
Schimke immuno-osseous dysplasia
GUncertain significance
SMARCAL1
(R221I)
Single nucleotide variant
(missense variant)
Schimke immuno-osseous dysplasia
GUncertain significance
SMARCAL1
Single nucleotide variant
(intron variant)
Schimke immuno-osseous dysplasia
GLikely benign
SMARCAL1
(V420A)
Single nucleotide variant
(missense variant)
Schimke immuno-osseous dysplasia
GLikely benign
SMARCAL1
(S309N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
SMARCAL1
Single nucleotide variant
(synonymous variant)
Schimke immuno-osseous dysplasia
GLikely benign
SMARCAL1
(G857R)
Single nucleotide variant
(missense variant)
Schimke immuno-osseous dysplasia
GUncertain significance
SMARCAL1
(S434F)
Single nucleotide variant
(missense variant)
Schimke immuno-osseous dysplasia
GUncertain significance
SMARCAL1
(T492I)
Single nucleotide variant
(missense variant)
Schimke immuno-osseous dysplasia
GUncertain significance
SMARCAL1
Single nucleotide variant
(synonymous variant)
Schimke immuno-osseous dysplasia
GLikely benign
SMARCAL1
Single nucleotide variant
(synonymous variant)
Schimke immuno-osseous dysplasia
GLikely benign
SMARCAL1
(R754H)
Single nucleotide variant
(missense variant)
Schimke immuno-osseous dysplasia
GUncertain significance
SMARCAL1
(R59T)
Single nucleotide variant
(missense variant)
Schimke immuno-osseous dysplasia
GUncertain significance
SMARCAL1
Single nucleotide variant
(synonymous variant)
Schimke immuno-osseous dysplasia
GLikely benign
SMARCAL1
(A355E)
Single nucleotide variant
(missense variant)
Schimke immuno-osseous dysplasia
GUncertain significance
SMARCAL1
Single nucleotide variant
(intron variant)
Schimke immuno-osseous dysplasia
GLikely benign
SMARCAL1
(E898K)
Single nucleotide variant
(missense variant)
Schimke immuno-osseous dysplasia
GUncertain significance
SMARCAL1
Single nucleotide variant
(synonymous variant)
Schimke immuno-osseous dysplasia
GLikely benign
SMARCAL1
Single nucleotide variant
(intron variant)
Schimke immuno-osseous dysplasia
GUncertain significance
SMARCAL1
Single nucleotide variant
(intron variant)
Schimke immuno-osseous dysplasia
GLikely benign
SMARCAL1
Single nucleotide variant
(intron variant)
Schimke immuno-osseous dysplasia
GUncertain significance
SMARCAL1
(F330Y)
Single nucleotide variant
(missense variant)
Schimke immuno-osseous dysplasia
GUncertain significance
SMARCAL1
(E928K)
Single nucleotide variant
(missense variant)
Schimke immuno-osseous dysplasia
GUncertain significance
SMARCAL1
Single nucleotide variant
(synonymous variant)
Schimke immuno-osseous dysplasia
GLikely benign
SMARCAL1
(R672G)
Single nucleotide variant
(missense variant)
Schimke immuno-osseous dysplasia
GUncertain significance
SMARCAL1
Single nucleotide variant
(intron variant)
Schimke immuno-osseous dysplasia
GLikely benign
SMARCAL1
Single nucleotide variant
(intron variant)
Schimke immuno-osseous dysplasia
GLikely benign
SMARCAL1
(K735E)
Single nucleotide variant
(missense variant)
Schimke immuno-osseous dysplasia
GUncertain significance
SMARCAL1
Single nucleotide variant
(synonymous variant)
Schimke immuno-osseous dysplasia
GLikely benign
SMARCAL1
Single nucleotide variant
(synonymous variant)
Schimke immuno-osseous dysplasia
GLikely benign
SMARCAL1
Single nucleotide variant
(intron variant)
Schimke immuno-osseous dysplasia
GLikely benign
SMARCAL1
(N235K)
Single nucleotide variant
(missense variant)
Schimke immuno-osseous dysplasia
GUncertain significance
SMARCAL1
Single nucleotide variant
(synonymous variant)
Schimke immuno-osseous dysplasia
GLikely benign
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