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Items: 1 to 100 of 408

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABI2, AGPS
+697 more
Copy number loss
See cases
GPathogenic
LOC126806416, LOC126806417
+591 more
Copy number loss
See cases
GPathogenic
ANKAR, ANKRD44
+430 more
Copy number loss
See cases
GPathogenic
LOC129935413, LOC129935414
+1097 more
Copy number gain
See cases
GPathogenic
LOC129935268, LOC129935269
+329 more
Copy number loss
See cases
GPathogenic
AAMP, ABCA12
+1703 more
Copy number gain
See cases
GPathogenic
ABCA12, ABCB6
+1687 more
Copy number gain
See cases
GPathogenic
AAMP, ABCA12
+1665 more
Copy number gain
See cases
GPathogenic
FAM117B, FAM237A
+509 more
Copy number loss
See cases
GPathogenic
ANKRD44, ANKRD44-AS1
+118 more
Copy number loss
See cases
GPathogenic
LOC126806461, LOC126806467
+1299 more
Copy number gain
See cases
GPathogenic
ABI2, ALS2
+279 more
Copy number loss
See cases
GPathogenic
PGAP1
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
PGAP1
Single nucleotide variant
(3 prime UTR variant)
not provided
GUncertain significance
PGAP1
(M533V +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
(L741F +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
(P523S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
PGAP1
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal recessive 42
GLikely benign
PGAP1
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal recessive 42
GLikely benign
PGAP1
(F897S +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal recessive 42
GLikely benign
PGAP1
(T494A +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 42
+1 more
GLikely benign
PGAP1
(K881N +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
(K492R +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal recessive 42
GLikely benign
PGAP1
Duplication
(intron variant)
not provided
GLikely benign
PGAP1
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal recessive 42
GLikely benign
PGAP1
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal recessive 42
GBenign
PGAP1
(V483I +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
(T482fs +2 more)
Duplication
(frameshift variant)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
Single nucleotide variant
(synonymous variant)
PGAP1-related condition
+3 more
GBenign/Likely benign
PGAP1
(A475V +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PGAP1
(M689V +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
(P851S +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
(D461Y +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
(K457I +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PGAP1
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal recessive 42
GLikely benign
PGAP1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia
GUncertain significance
PGAP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PGAP1
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
(L449P +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PGAP1
(L434V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
PGAP1
(M641V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PGAP1
(R640H +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PGAP1
(R425C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PGAP1
(L424P +2 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
PGAP1
(D419N +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal recessive 42
GLikely benign
PGAP1
(R803H +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 42
+1 more
GUncertain significance
PGAP1
(R414C +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PGAP1
(S409* +2 more)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal recessive 42
GLikely pathogenic
PGAP1
(S409L +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
GUncertain significance
PGAP1
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal recessive 42
+1 more
GConflicting classifications of pathogenicity
PGAP1
(K406N +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
(N618S +2 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
PGAP1
(S791F +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
(S402P +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
(R612fs +2 more)
Insertion
(frameshift variant)
Inborn genetic diseases
+2 more
GPathogenic
PGAP1
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal recessive 42
GLikely benign
PGAP1
(S610C +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
Single nucleotide variant
(splice acceptor variant)
Intellectual disability, autosomal recessive 42
GLikely pathogenic
PGAP1
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal recessive 42
GLikely benign
PGAP1
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal recessive 42
GLikely benign
PGAP1
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal recessive 42
GBenign
PGAP1
Single nucleotide variant
(intron variant)
not provided
GBenign
PGAP1
Deletion
(intron variant)
not provided
GBenign
PGAP1
(P778T +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
(S776N +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
(T383A +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PGAP1
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal recessive 42
GLikely benign
PGAP1
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal recessive 42
GLikely benign
PGAP1
(V374I +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 42
GConflicting classifications of pathogenicity
PGAP1
Single nucleotide variant
(splice acceptor variant)
Intellectual disability, autosomal recessive 42
GLikely pathogenic
PGAP1
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal recessive 42
GBenign
PGAP1
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal recessive 42
GLikely benign
PGAP1
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal recessive 42
GLikely benign
PGAP1
Duplication
(intron variant)
not provided
GBenign
PGAP1
Deletion
(intron variant)
not provided
GLikely benign
PGAP1
Single nucleotide variant
(intron variant)
not provided
GBenign
PGAP1
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal recessive 42
GLikely benign
PGAP1
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal recessive 42
GLikely benign
PGAP1
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal recessive 42
GLikely benign
PGAP1
Single nucleotide variant
(intron variant)
not specified
GLikely benign
PGAP1
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
Single nucleotide variant
(splice donor variant)
Intellectual disability, autosomal recessive 42
GLikely pathogenic
PGAP1
(Y370C +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
(Y369* +2 more)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal recessive 42
GPathogenic/Likely pathogenic
PGAP1
(I737V +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PGAP1
(L735* +2 more)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal recessive 42
GLikely pathogenic
PGAP1
Deletion
(frameshift variant)
Inborn genetic diseases
GPathogenic
PGAP1
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal recessive 42
GLikely benign
PGAP1
(P559S +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PGAP1
(I336N +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
PGAP1
(P333L +2 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
PGAP1
Single nucleotide variant
(intron variant)
not provided
GBenign
PGAP1
Insertion
(intron variant)
Intellectual disability, autosomal recessive 42
GLikely benign
PGAP1
(A714V +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal recessive 42
GLikely benign
PGAP1
(W323C +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 42
GUncertain significance
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