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Links from MedGen

Items: 1 to 100 of 240

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIGA
Single nucleotide variant
(synonymous variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GLikely benign
PIGA
(A405P +1 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GUncertain significance
PIGA
(I228V)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GBenign
PIGA
(H303R +1 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GUncertain significance
PIGA
Single nucleotide variant
(synonymous variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GLikely benign
PIGA
(N109fs +1 more)
Deletion
(frameshift variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GPathogenic
PIGA
Single nucleotide variant
(intron variant)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GLikely benign
PIGA
(R63T)
Single nucleotide variant
(missense variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GLikely pathogenic
PIGA
Single nucleotide variant
(intron variant)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GLikely benign
PIGA
(S21N)
Single nucleotide variant
(missense variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GUncertain significance
PIGA
(M97L)
Single nucleotide variant
(missense variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GUncertain significance
PIGA
(R114S)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GUncertain significance
PIGA
(Q148R)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GUncertain significance
PIGA
Single nucleotide variant
(synonymous variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GLikely benign
PIGA
Single nucleotide variant
(synonymous variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GLikely benign
PIGA
Single nucleotide variant
(non-coding transcript variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GLikely benign
PIGA
Single nucleotide variant
(synonymous variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GLikely benign
PIGA
(M97I)
Single nucleotide variant
(missense variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GLikely benign
PIGA
(R31G)
Single nucleotide variant
(missense variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GUncertain significance
PIGA
(I181V)
Single nucleotide variant
(intron variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GUncertain significance
PIGA
(N233del +1 more)
Deletion
(inframe_deletion +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GUncertain significance
PIGA
Single nucleotide variant
(synonymous variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GLikely benign
PIGA
Single nucleotide variant
(synonymous variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GLikely benign
PIGA
(A2T)
Single nucleotide variant
(missense variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GUncertain significance
PIGA
(H11R)
Single nucleotide variant
(missense variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
+1 more
GConflicting classifications of pathogenicity
PIGA
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GLikely benign
PIGA
(L110R +1 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GUncertain significance
ACE2, AP1S2
+12 more
Deletion
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GPathogenic
PIGA
Single nucleotide variant
(synonymous variant +1 more)
PIGA-related condition
+1 more
GConflicting classifications of pathogenicity
PIGA
(S101A)
Single nucleotide variant
(missense variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GUncertain significance
PIGA
Single nucleotide variant
(synonymous variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GLikely benign
PIGA
(L16V +1 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GBenign
PIGA
(I440T +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GUncertain significance
PIGA
(R12C)
Single nucleotide variant
(missense variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GBenign
PIGA
Single nucleotide variant
(intron variant)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GLikely benign
PIGA
(I124K)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GUncertain significance
PIGA
(E242K +1 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GBenign
PIGA
Single nucleotide variant
(intron variant)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GLikely benign
PIGA
(A196T)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GUncertain significance
PIGA
(L106P)
Single nucleotide variant
(missense variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GUncertain significance
PIGA
(R29G)
Single nucleotide variant
(missense variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GUncertain significance
PIGA
(I221V +1 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GUncertain significance
PIGA
(Y91C)
Single nucleotide variant
(missense variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GUncertain significance
PIGA
Single nucleotide variant
(intron variant)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GBenign
PIGA
(N109D +1 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GUncertain significance
PIGA
Single nucleotide variant
(synonymous variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GLikely benign
PIGA
Single nucleotide variant
(synonymous variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GLikely benign
PIGA
Single nucleotide variant
(intron variant)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GLikely benign
PIGA
Single nucleotide variant
(synonymous variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GLikely benign
PIGA
Single nucleotide variant
(synonymous variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GLikely benign
PIGA
Single nucleotide variant
(intron variant)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GLikely benign
PIGA
(I450V +1 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GUncertain significance
PIGA
(T149I)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GUncertain significance
PIGA
(H52Y)
Single nucleotide variant
(missense variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GUncertain significance
PIGA
(T144S)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GUncertain significance
PIGA
(N145D +1 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GUncertain significance
PIGA
Single nucleotide variant
(intron variant)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GLikely benign
PIGA
Single nucleotide variant
(synonymous variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GLikely benign
PIGA
(N99S)
Single nucleotide variant
(missense variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GUncertain significance
PIGA
Single nucleotide variant
(intron variant)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GLikely benign
PIGA
Single nucleotide variant
(synonymous variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GBenign
PIGA
(L110V)
Single nucleotide variant
(missense variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GUncertain significance
PIGA
Single nucleotide variant
(synonymous variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GLikely benign
PIGA
(L25I)
Single nucleotide variant
(missense variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GUncertain significance
PIGA
(I129V +1 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GUncertain significance
PIGA
(L121M +1 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GUncertain significance
PIGA
(Y90H)
Single nucleotide variant
(missense variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GLikely pathogenic
PIGA
Single nucleotide variant
(synonymous variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GLikely benign
PIGA
Single nucleotide variant
(intron variant)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GLikely benign
PIGA
Single nucleotide variant
(synonymous variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GLikely benign
PIGA
Microsatellite
(intron variant)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GLikely benign
PIGA
Single nucleotide variant
(synonymous variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GLikely benign
PIGA
Single nucleotide variant
(synonymous variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GLikely benign
PIGA
(Y234C +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GBenign/Likely benign
PIGA
(I146T +1 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GBenign
PIGA
Single nucleotide variant
(synonymous variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GLikely benign
PIGA
Single nucleotide variant
(synonymous variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GLikely benign
PIGA
Single nucleotide variant
(synonymous variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GLikely benign
PIGA
Single nucleotide variant
(intron variant)
Paroxysmal nocturnal hemoglobinuria 1
+1 more
GConflicting classifications of pathogenicity
PIGA
Microsatellite
(intron variant)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GLikely benign
PIGA
(T16I)
Single nucleotide variant
(missense variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GUncertain significance
PIGA
(G79D)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
PIGA
(R51C +1 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GUncertain significance
PIGA
(P111L)
Single nucleotide variant
(missense variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GUncertain significance
PIGA
(S168A +1 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
+1 more
GUncertain significance
PIGA
(T172A)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
PIGA
Single nucleotide variant
(intron variant)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GUncertain significance
PIGA
(I226T)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GUncertain significance
PIGA
(W153R +1 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GUncertain significance
PIGA
(V96L)
Single nucleotide variant
(missense variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GUncertain significance
PIGA
(M134V)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GUncertain significance
PIGA
(V401L +1 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GUncertain significance
PIGA
(M175V +1 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GUncertain significance
PIGA
(D241N +1 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
+1 more
GUncertain significance
PIGA
(N76S)
Single nucleotide variant
(missense variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GUncertain significance
PIGA
(L439V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
PIGA
Single nucleotide variant
(intron variant)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GUncertain significance
PIGA
(I143M +1 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GUncertain significance
PIGA
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
PIGA
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
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