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Items: 1 to 100 of 1125

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129929105, LOC129929106
+2149 more
Copy number gain
Trisomy 12p
GPathogenic
TXLNA, UBXN11
+1145 more
Copy number gain
See cases
GPathogenic
ARID1A
Single nucleotide variant
not provided
GLikely benign
ARID1A
Single nucleotide variant
not provided
GLikely benign
ARID1A
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
ARID1A
Single nucleotide variant
(5 prime UTR variant)
not specified
GUncertain significance
ARID1A
(M1R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ARID1A
(M1T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ARID1A
(A2T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARID1A
(S11fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
ARID1A
(A8T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARID1A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARID1A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ARID1A
Microsatellite
(inframe_insertion)
Inborn genetic diseases
+1 more
GBenign/Likely benign
ARID1A
Microsatellite
(inframe_insertion)
not specified
+3 more
GConflicting classifications of pathogenicity
ARID1A
Microsatellite
(inframe_deletion)
not provided
GLikely benign
ARID1A
(P21del)
Microsatellite
(inframe_deletion)
not provided
GLikely benign
ARID1A
(P19A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARID1A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARID1A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARID1A
(E23*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
ARID1A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARID1A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ARID1A
(Q31E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ARID1A
(E33fs)
Deletion
(frameshift variant)
Intellectual disability, autosomal dominant 14
GConflicting classifications of pathogenicity
ARID1A
(R32Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARID1A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARID1A
(G36R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARID1A
(G37D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ARID1A
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
ARID1A
Microsatellite
(inframe_insertion)
not provided
GBenign
ARID1A
Microsatellite
(inframe_insertion)
not provided
GLikely benign
ARID1A
Microsatellite
(inframe_insertion)
not provided
+2 more
GBenign/Likely benign
ARID1A
Microsatellite
(inframe_deletion)
not provided
GLikely benign
ARID1A
(A45del)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
ARID1A
(A39V)
Single nucleotide variant
(missense variant)
not provided
GBenign
ARID1A
(A41V)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 14
+1 more
GConflicting classifications of pathogenicity
ARID1A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ARID1A
Duplication
(inframe_insertion)
not provided
GUncertain significance
ARID1A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARID1A
(A44P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARID1A
(A45T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARID1A
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
ARID1A
(R47C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARID1A
(R47H)
Single nucleotide variant
(missense variant)
not provided
GBenign
ARID1A
(M50V)
Single nucleotide variant
(missense variant)
not provided
GBenign
ARID1A
(M50*)
Indel
(nonsense)
not provided
GPathogenic
ARID1A
(A54V)
Single nucleotide variant
(missense variant)
ARID1A-related condition
GUncertain significance
ARID1A
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
ARID1A
(G55R)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 14
GUncertain significance
ARID1A
(Q56*)
Single nucleotide variant
(nonsense)
ARID1A-related BAFopathy
GPathogenic
ARID1A
(Q56L)
Single nucleotide variant
(missense variant)
not provided
GBenign
ARID1A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ARID1A
(E59*)
Single nucleotide variant
(nonsense)
Non-immune hydrops fetalis
GPathogenic
ARID1A
(A62V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARID1A
(V63L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ARID1A
(P65S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARID1A
(P65A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARID1A
(P65L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARID1A
(P66R)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 14
GUncertain significance
ARID1A
(Q67R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARID1A
(P68T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARID1A
(P68S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ARID1A
(P68L)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 14
GUncertain significance
ARID1A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARID1A
(G70V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARID1A
(K71N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARID1A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARID1A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARID1A
(Q74P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARID1A
(N80S)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
ARID1A
(G81E)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 14
GUncertain significance
ARID1A
Microsatellite
(inframe_indel +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ARID1A
Microsatellite
(inframe_insertion)
not specified
+1 more
GUncertain significance
ARID1A
Duplication
(inframe_insertion)
not specified
+1 more
GConflicting classifications of pathogenicity
ARID1A
Deletion
(inframe_deletion)
not provided
GBenign/Likely benign
ARID1A
Microsatellite
(inframe_insertion)
not provided
GUncertain significance
ARID1A
Duplication
(inframe_insertion)
not provided
GUncertain significance
ARID1A
Deletion
(inframe_deletion)
not provided
GConflicting classifications of pathogenicity
ARID1A
Duplication
(inframe_insertion)
not provided
GUncertain significance
ARID1A
Deletion
(inframe_deletion)
Intellectual disability, autosomal dominant 14
GUncertain significance
ARID1A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARID1A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARID1A
Deletion
(inframe_deletion)
not provided
GLikely benign
ARID1A
Deletion
(inframe_deletion)
not provided
GLikely benign
ARID1A
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
ARID1A
Microsatellite
(inframe_insertion)
Pulmonic stenosis
+1 more
GUncertain significance
ARID1A
(S90G)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
ARID1A
(S90T)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 14
GUncertain significance
ARID1A
(S90R)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 14
GUncertain significance
ARID1A
(G92D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARID1A
(G93R)
Single nucleotide variant
(missense variant)
not provided
GBenign
ARID1A
(P94H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARID1A
(P94L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARID1A
(G95fs)
Deletion
(frameshift variant)
Intellectual disability, autosomal dominant 14
GLikely pathogenic
ARID1A
(E97Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ARID1A
(E97K)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 14
GUncertain significance
ARID1A
(P98S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARID1A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARID1A
(L100P)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
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