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Links from MedGen

Items: 28

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SMARCA2
Single nucleotide variant
(splice donor variant)
Blepharophimosis-impaired intellectual development syndrome
+1 more
GUncertain significance
SMARCA2
Insertion
(inframe_indel +1 more)
Blepharophimosis-impaired intellectual development syndrome
+1 more
GUncertain significance
SMARCA2
(P625L)
Single nucleotide variant
(missense variant)
Blepharophimosis-impaired intellectual development syndrome
GLikely pathogenic
SMARCA2
(Y514C)
Single nucleotide variant
(missense variant)
Blepharophimosis-impaired intellectual development syndrome
GUncertain significance
SMARCA2
(Q899R +1 more)
Single nucleotide variant
(missense variant)
Blepharophimosis-impaired intellectual development syndrome
GLikely pathogenic
SMARCA2
(L766V)
Single nucleotide variant
(missense variant)
Blepharophimosis-impaired intellectual development syndrome
GUncertain significance
SMARCA2
(T211M)
Single nucleotide variant
(missense variant)
Blepharophimosis-impaired intellectual development syndrome
+2 more
GUncertain significance
SMARCA2
(F228L +5 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SMARCA2
Single nucleotide variant
(intron variant)
Blepharophimosis-impaired intellectual development syndrome
+2 more
GBenign
SMARCA2
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
SMARCA2
Single nucleotide variant
(intron variant)
Nicolaides-Baraitser syndrome
+2 more
GBenign
SMARCA2
Insertion
(intron variant)
Nicolaides-Baraitser syndrome
+2 more
GBenign
SMARCA2
(R1047H +1 more)
Single nucleotide variant
(missense variant)
Nicolaides-Baraitser syndrome
+2 more
GConflicting classifications of pathogenicity
SMARCA2
(R525H)
Single nucleotide variant
(missense variant)
Blepharophimosis-impaired intellectual development syndrome
+2 more
GPathogenic/Likely pathogenic
SMARCA2
(R505Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
SMARCA2
(R525C)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
SMARCA2
(R879L +1 more)
Single nucleotide variant
(missense variant)
Blepharophimosis-impaired intellectual development syndrome
+1 more
GPathogenic/Likely pathogenic
SMARCA2
(E871V +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability
GLikely pathogenic
SMARCA2
Single nucleotide variant
(intron variant)
Blepharophimosis-impaired intellectual development syndrome
+2 more
GBenign
SMARCA2
(Q296P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
SMARCA2
(Q227P)
Single nucleotide variant
(missense variant)
Nicolaides-Baraitser syndrome
+2 more
GBenign/Likely benign
SMARCA2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
SMARCA2
Microsatellite
(inframe_insertion +1 more)
not provided
+3 more
GBenign/Likely benign
SMARCA2
Single nucleotide variant
(intron variant)
Nicolaides-Baraitser syndrome
+2 more
GBenign/Likely benign
SMARCA2
Single nucleotide variant
(synonymous variant)
Blepharophimosis-impaired intellectual development syndrome
+4 more
GBenign/Likely benign
SMARCA2
(Q238del)
Microsatellite
(inframe_deletion +1 more)
not specified
+4 more
GBenign
SMARCA2
(D1546E +5 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign
SMARCA2
(E852K)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
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