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Items: 1 to 100 of 543

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC123497907, LOC123497908
+1445 more
Copy number gain
See cases
GPathogenic
LINC02219, LINC02229
+265 more
Copy number loss
Intellectual disability
GLikely pathogenic
ADAMTS6, AK6
+139 more
Copy number gain
See cases
GLikely pathogenic
ADAMTS6, AK6
+115 more
Copy number loss
See cases
GPathogenic
AK6, CCDC125
+101 more
Copy number gain
See cases
GUncertain significance
PIK3R1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PIK3R1
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
PIK3R1
Single nucleotide variant
(synonymous variant)
Agammaglobulinemia 7, autosomal recessive
+2 more
GLikely benign
PIK3R1
Single nucleotide variant
(synonymous variant)
SHORT syndrome
+2 more
GLikely benign
PIK3R1
(R9G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PIK3R1
(A10V)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
PIK3R1
Single nucleotide variant
(synonymous variant)
PIK3R1-related condition
+3 more
GLikely benign
PIK3R1
Single nucleotide variant
(synonymous variant)
Agammaglobulinemia 7, autosomal recessive
+2 more
GLikely benign
PIK3R1
(D21V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PIK3R1
(I22T)
Single nucleotide variant
(missense variant)
Agammaglobulinemia 7, autosomal recessive
+2 more
GUncertain significance
PIK3R1
Single nucleotide variant
(synonymous variant)
Immunodeficiency 36
+2 more
GLikely benign
PIK3R1
Single nucleotide variant
(synonymous variant)
SHORT syndrome
+2 more
GLikely benign
PIK3R1
(G35D)
Indel
(missense variant)
SHORT syndrome
+2 more
GUncertain significance
PIK3R1
(G35A)
Single nucleotide variant
(missense variant)
Agammaglobulinemia 7, autosomal recessive
+3 more
GUncertain significance
PIK3R1
Single nucleotide variant
(synonymous variant)
SHORT syndrome
+2 more
GLikely benign
PIK3R1
Single nucleotide variant
(synonymous variant)
Immunodeficiency 36
+2 more
GLikely benign
PIK3R1
(L40P)
Single nucleotide variant
(missense variant)
Immunodeficiency 36
+2 more
GUncertain significance
PIK3R1
(E51K)
Single nucleotide variant
(missense variant)
Agammaglobulinemia 7, autosomal recessive
+2 more
GUncertain significance
PIK3R1
(I53V)
Single nucleotide variant
(missense variant)
Immunodeficiency 36
+2 more
GUncertain significance
PIK3R1
Single nucleotide variant
(synonymous variant)
Immunodeficiency 36
+2 more
GLikely benign
PIK3R1
Single nucleotide variant
(synonymous variant)
SHORT syndrome
+2 more
GLikely benign
PIK3R1
(N57S)
Single nucleotide variant
(missense variant)
Agammaglobulinemia 7, autosomal recessive
+2 more
GUncertain significance
PIK3R1
(E61D)
Single nucleotide variant
(missense variant)
SHORT syndrome
+2 more
GUncertain significance
PIK3R1
(T62I)
Single nucleotide variant
(missense variant)
Immunodeficiency 36
+2 more
GUncertain significance
PIK3R1
Single nucleotide variant
(synonymous variant)
PIK3R1-related condition
+4 more
GBenign/Likely benign
PIK3R1
(D68fs)
Duplication
(frameshift variant)
not provided
GPathogenic
PIK3R1
(R66K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PIK3R1
Single nucleotide variant
(synonymous variant)
SHORT syndrome
+2 more
GLikely benign
PIK3R1
(G67E)
Single nucleotide variant
(missense variant)
Agammaglobulinemia 7, autosomal recessive
+2 more
GUncertain significance
PIK3R1
(D68H)
Single nucleotide variant
(missense variant)
SHORT syndrome
+2 more
GUncertain significance
PIK3R1
(D68N)
Single nucleotide variant
(missense variant)
Agammaglobulinemia 7, autosomal recessive
+2 more
GUncertain significance
PIK3R1
Single nucleotide variant
(synonymous variant)
SHORT syndrome
+2 more
GLikely benign
PIK3R1
(F69L)
Single nucleotide variant
(missense variant)
SHORT syndrome
+2 more
GUncertain significance
PIK3R1
(P70L)
Single nucleotide variant
(missense variant)
SHORT syndrome
+3 more
GUncertain significance
PIK3R1
Single nucleotide variant
(synonymous variant)
SHORT syndrome
+2 more
GLikely benign
PIK3R1
Single nucleotide variant
(synonymous variant)
Immunodeficiency 36
+2 more
GLikely benign
PIK3R1
Single nucleotide variant
(synonymous variant)
Immunodeficiency 36
+4 more
GBenign/Likely benign
PIK3R1
(V74I)
Single nucleotide variant
(missense variant)
Immunodeficiency 36
+2 more
GUncertain significance
PIK3R1
Single nucleotide variant
(synonymous variant)
SHORT syndrome
+2 more
GLikely benign
PIK3R1
(S83L)
Single nucleotide variant
(missense variant)
Immunodeficiency 36
+2 more
GUncertain significance
PIK3R1
Single nucleotide variant
(synonymous variant)
Agammaglobulinemia 7, autosomal recessive
+2 more
GLikely benign
PIK3R1
(P84R)
Single nucleotide variant
(missense variant)
SHORT syndrome
+2 more
GUncertain significance
PIK3R1
(P84L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PIK3R1
(T86I)
Single nucleotide variant
(missense variant)
SHORT syndrome
+2 more
GUncertain significance
PIK3R1
Single nucleotide variant
(synonymous variant)
SHORT syndrome
+2 more
GLikely benign
PIK3R1
Single nucleotide variant
(synonymous variant)
Immunodeficiency 36
+2 more
GLikely benign
PIK3R1
(R90W)
Single nucleotide variant
(missense variant)
Immunodeficiency 36
+2 more
GUncertain significance
PIK3R1
(P92R)
Single nucleotide variant
(missense variant)
SHORT syndrome
+2 more
GUncertain significance
PIK3R1
(R93Q)
Single nucleotide variant
(missense variant)
SHORT syndrome
+2 more
GUncertain significance
PIK3R1
Single nucleotide variant
(synonymous variant)
Agammaglobulinemia 7, autosomal recessive
+2 more
GLikely benign
PIK3R1
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
PIK3R1
(G100A)
Single nucleotide variant
(missense variant)
Immunodeficiency 36
+2 more
GUncertain significance
PIK3R1
(S102L)
Single nucleotide variant
(missense variant)
Agammaglobulinemia 7, autosomal recessive
+3 more
GConflicting classifications of pathogenicity
PIK3R1
Single nucleotide variant
(synonymous variant)
SHORT syndrome
+2 more
GBenign
PIK3R1
Single nucleotide variant
(synonymous variant)
Immunodeficiency 36
+2 more
GLikely benign
PIK3R1
(D107H)
Single nucleotide variant
(missense variant)
SHORT syndrome
+2 more
GUncertain significance
PIK3R1
(Q111del)
Microsatellite
(inframe_deletion)
SHORT syndrome
+2 more
GUncertain significance
PIK3R1
Single nucleotide variant
(synonymous variant)
Immunodeficiency 36
+2 more
GLikely benign
PIK3R1
(Q111R)
Single nucleotide variant
(missense variant)
Immunodeficiency 36
+2 more
GUncertain significance
PIK3R1
Single nucleotide variant
(intron variant)
SHORT syndrome
+2 more
GUncertain significance
PIK3R1
Deletion
(intron variant)
Immunodeficiency 36
+2 more
GUncertain significance
PIK3R1
Single nucleotide variant
(intron variant)
Agammaglobulinemia 7, autosomal recessive
+2 more
GLikely benign
PIK3R1
Single nucleotide variant
(intron variant)
SHORT syndrome
+2 more
GBenign
PIK3R1
Indel
(intron variant)
SHORT syndrome
+2 more
GLikely benign
PIK3R1
Single nucleotide variant
(intron variant)
Immunodeficiency 36
+4 more
GBenign/Likely benign
PIK3R1
Single nucleotide variant
(intron variant)
SHORT syndrome
+2 more
GLikely benign
PIK3R1
Single nucleotide variant
(intron variant)
SHORT syndrome
+2 more
GLikely benign
PIK3R1
Single nucleotide variant
(intron variant)
not provided
GBenign
PIK3R1
Single nucleotide variant
(intron variant)
not specified
GBenign
PIK3R1
Duplication
(intron variant)
not specified
GBenign
PIK3R1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PIK3R1
Single nucleotide variant
(intron variant)
Immunodeficiency 36
+2 more
GLikely benign
PIK3R1
Single nucleotide variant
(intron variant)
Immunodeficiency 36
+2 more
GUncertain significance
PIK3R1
Single nucleotide variant
(intron variant)
Immunodeficiency 36
+2 more
GUncertain significance
PIK3R1
(T114I)
Single nucleotide variant
(missense variant)
Immunodeficiency 36
+2 more
GUncertain significance
PIK3R1
(L115F)
Single nucleotide variant
(missense variant)
SHORT syndrome
+2 more
GUncertain significance
PIK3R1
(L115V)
Single nucleotide variant
(missense variant)
SHORT syndrome
+2 more
GUncertain significance
PIK3R1
(P116T)
Single nucleotide variant
(missense variant)
SHORT syndrome
+3 more
GUncertain significance
PIK3R1
(P116L)
Single nucleotide variant
(missense variant)
Agammaglobulinemia 7, autosomal recessive
+2 more
GUncertain significance
PIK3R1
Single nucleotide variant
(synonymous variant)
Immunodeficiency 36
+2 more
GLikely benign
PIK3R1
Single nucleotide variant
(synonymous variant)
Immunodeficiency 36
+2 more
GLikely benign
PIK3R1
Single nucleotide variant
(synonymous variant)
Immunodeficiency 36
+2 more
GLikely benign
PIK3R1
(P125R)
Single nucleotide variant
(missense variant)
SHORT syndrome
+2 more
GUncertain significance
PIK3R1
(D126N)
Single nucleotide variant
(missense variant)
SHORT syndrome
+2 more
GUncertain significance
PIK3R1
(P129L)
Single nucleotide variant
(missense variant)
Immunodeficiency 36
+2 more
GUncertain significance
PIK3R1
Single nucleotide variant
(synonymous variant)
Immunodeficiency 36
+2 more
GLikely benign
PIK3R1
(I133V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PIK3R1
(I133T)
Single nucleotide variant
(missense variant)
Immunodeficiency 36
+2 more
GUncertain significance
PIK3R1
(I133M)
Single nucleotide variant
(missense variant)
Immunodeficiency 36
+2 more
GUncertain significance
PIK3R1
(L135F)
Single nucleotide variant
(missense variant)
SHORT syndrome
+2 more
GUncertain significance
PIK3R1
Single nucleotide variant
(synonymous variant)
Immunodeficiency 36
+2 more
GLikely benign
PIK3R1
(V136L)
Single nucleotide variant
(missense variant)
SHORT syndrome
+3 more
GUncertain significance
PIK3R1
(V136M)
Single nucleotide variant
(missense variant)
Immunodeficiency 36
+3 more
GUncertain significance
PIK3R1
(A138G)
Single nucleotide variant
(missense variant)
Immunodeficiency 36
+2 more
GUncertain significance
PIK3R1
Single nucleotide variant
(synonymous variant)
SHORT syndrome
+2 more
GLikely benign
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