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Items: 1 to 100 of 254

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PGAP1
(V18I)
Single nucleotide variant
(5 prime UTR variant +1 more)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
(I303T +1 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal recessive 42
GLikely benign
PGAP1
Single nucleotide variant
(5 prime UTR variant +1 more)
Intellectual disability, autosomal recessive 42
GLikely benign
PGAP1
Single nucleotide variant
(synonymous variant +1 more)
Intellectual disability, autosomal recessive 42
GLikely benign
PGAP1
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal recessive 42
GLikely benign
PGAP1
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal recessive 42
GLikely benign
PGAP1
Single nucleotide variant
(synonymous variant +1 more)
Intellectual disability, autosomal recessive 42
GLikely benign
PGAP1
(C449fs +2 more)
Deletion
(frameshift variant)
Intellectual disability, autosomal recessive 42
GPathogenic
PGAP1
Single nucleotide variant
(splice acceptor variant)
Intellectual disability, autosomal recessive 42
GLikely pathogenic
PGAP1
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal recessive 42
GLikely benign
PGAP1
Single nucleotide variant
(synonymous variant +1 more)
Intellectual disability, autosomal recessive 42
GLikely 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
Single nucleotide variant
(synonymous variant +1 more)
Intellectual disability, autosomal recessive 42
GLikely benign
PGAP1
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal recessive 42
GLikely benign
PGAP1
Single nucleotide variant
(splice acceptor variant)
Intellectual disability, autosomal recessive 42
GLikely pathogenic
PGAP1
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal recessive 42
GLikely benign
PGAP1
(K406N +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 pathogenic
PGAP1
(S409* +2 more)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal recessive 42
GLikely pathogenic
PGAP1
(L741F +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
(S97fs)
Deletion
(5 prime UTR variant +1 more)
Intellectual disability, autosomal recessive 42
GLikely pathogenic
PGAP1
(D419N +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
(G110E +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
Duplication
(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
(S229N +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
Single nucleotide variant
(5 prime UTR variant +1 more)
Intellectual disability, autosomal recessive 42
GLikely benign
PGAP1
(A314T +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
(S139N)
Single nucleotide variant
(5 prime UTR variant +1 more)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
(V272L +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
(V112A +1 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal recessive 42
GLikely benign
PGAP1
(S791F +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
Deletion
(intron variant)
Intellectual disability, autosomal recessive 42
GLikely benign
PGAP1
(V360I +1 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal recessive 42
GLikely benign
PGAP1
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal recessive 42
GLikely benign
PGAP1
(S402P +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
(N195H +1 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
(S776N +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
(W323C +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
Deletion
(intron variant)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
(L8I)
Single nucleotide variant
(5 prime UTR variant +1 more)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
Deletion
(intron variant)
Intellectual disability, autosomal recessive 42
GLikely benign
PGAP1
(T172S +1 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal recessive 42
GLikely benign
PGAP1
Single nucleotide variant
(5 prime UTR variant +1 more)
Intellectual disability, autosomal recessive 42
GLikely benign
PGAP1
(R640H +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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
(T383A +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
GUncertain significance
PGAP1
Single nucleotide variant
(5 prime UTR variant +1 more)
Intellectual disability, autosomal recessive 42
GLikely benign
PGAP1
(V28I)
Single nucleotide variant
(5 prime UTR variant +1 more)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
Single nucleotide variant
(synonymous variant +1 more)
Intellectual disability, autosomal recessive 42
GLikely benign
PGAP1
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal recessive 42
GLikely benign
PGAP1
(T284I +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
(S60N +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
(Y188F +1 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal recessive 42
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
GLikely benign
PGAP1
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal recessive 42
GBenign
PGAP1
Single nucleotide variant
(synonymous variant +1 more)
Intellectual disability, autosomal recessive 42
GLikely benign
PGAP1
(K166R)
Single nucleotide variant
(5 prime UTR variant +1 more)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal recessive 42
GLikely benign
PGAP1
(T302M +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
(S264G +1 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
(A367T +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 42
GLikely benign
PGAP1
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal recessive 42
GLikely benign
PGAP1
(R245Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
Single nucleotide variant
(synonymous variant +1 more)
Intellectual disability, autosomal recessive 42
GLikely benign
PGAP1
(N35S)
Single nucleotide variant
(5 prime UTR variant +1 more)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal recessive 42
GLikely benign
PGAP1
Deletion
(intron variant)
Intellectual disability, autosomal recessive 42
GBenign
PGAP1
(P92fs)
Deletion
(5 prime UTR variant +1 more)
Intellectual disability, autosomal recessive 42
GPathogenic
PGAP1
(I171V)
Single nucleotide variant
(5 prime UTR variant +1 more)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal recessive 42
GLikely benign
PGAP1
(M175I +1 more)
Single nucleotide variant
(missense variant +2 more)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
(R250P +1 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
(T84M)
Single nucleotide variant
(5 prime UTR variant +1 more)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal recessive 42
GLikely benign
PGAP1
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal recessive 42
GLikely benign
PGAP1
(V15I)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
PGAP1
(I118M +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
(G31S)
Single nucleotide variant
(5 prime UTR variant +1 more)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
(R250H +1 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
(V168M)
Single nucleotide variant
(5 prime UTR variant +1 more)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal recessive 42
GLikely benign
PGAP1
(V6T)
Inversion
(5 prime UTR variant +1 more)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
(N7fs)
Deletion
(5 prime UTR variant +1 more)
Intellectual disability, autosomal recessive 42
GPathogenic
PGAP1
(T63P +1 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
(Q77R +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 42
GUncertain significance
PGAP1
(N129S)
Single nucleotide variant
(5 prime UTR variant +1 more)
Intellectual disability, autosomal recessive 42
+1 more
GUncertain significance
PGAP1
(M533V +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 42
GUncertain significance
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