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Links from MedGen

Items: 1 to 100 of 211

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIGT
Single nucleotide variant
(synonymous variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
Single nucleotide variant
(synonymous variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
(P348fs +2 more)
Deletion
(frameshift variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GPathogenic
PIGT
Single nucleotide variant
(intron variant)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
PIGT
Single nucleotide variant
(synonymous variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
Single nucleotide variant
(synonymous variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
Single nucleotide variant
(synonymous variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
(H320D +2 more)
Single nucleotide variant
(missense variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
PIGT
Single nucleotide variant
(intron variant)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
Single nucleotide variant
(synonymous variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
Single nucleotide variant
(synonymous variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
Single nucleotide variant
(synonymous variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
Single nucleotide variant
(intron variant)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
Single nucleotide variant
(synonymous variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
Single nucleotide variant
(synonymous variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
(T430fs +3 more)
Duplication
(frameshift variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
MIR6812, PIGT
Single nucleotide variant
(non-coding transcript variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GBenign
PIGT
Single nucleotide variant
(intron variant)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
(R447Q +3 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
PIGT
Single nucleotide variant
(intron variant)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
(P475fs +3 more)
Deletion
(frameshift variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
PIGT
(E135Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GConflicting classifications of pathogenicity
PIGT
(P416R +3 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
PIGT
(R366W +3 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
PIGT
Single nucleotide variant
(synonymous variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
Single nucleotide variant
(synonymous variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
+1 more
GBenign/Likely benign
PIGT
(A347V +3 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
PIGT
(N443S +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
PIGT
(L207V +2 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
+1 more
GUncertain significance
PIGT
(R504H +3 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
PIGT
Single nucleotide variant
(intron variant)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
Single nucleotide variant
(synonymous variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
(R128C +2 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
PIGT
Single nucleotide variant
(intron variant)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
Single nucleotide variant
(synonymous variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
(T510M +3 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
+1 more
GUncertain significance
PIGT
Single nucleotide variant
(synonymous variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
(Y98C)
Single nucleotide variant
(missense variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
PIGT
Single nucleotide variant
(intron variant)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
MIR6812, PIGT
Single nucleotide variant
(intron variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
(T149M +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
PIGT
(E452K +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
PIGT
Single nucleotide variant
(non-coding transcript variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
(E24K)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
+1 more
GUncertain significance
PIGT
Single nucleotide variant
(non-coding transcript variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
Single nucleotide variant
(synonymous variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
Single nucleotide variant
(intron variant)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
(V482A +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
PIGT
Single nucleotide variant
(intron variant)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
(Y179C +2 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
PIGT
Single nucleotide variant
(synonymous variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
(G260W +2 more)
Single nucleotide variant
(missense variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
MIR6812, PIGT
Single nucleotide variant
(intron variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
(W99G)
Single nucleotide variant
(non-coding transcript variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
PIGT
(H119R +2 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
PIGT
(M457T +3 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
PIGT
Single nucleotide variant
(intron variant)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
(L186Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
PIGT
(R501C +3 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
PIGT
Single nucleotide variant
(synonymous variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
Single nucleotide variant
(intron variant)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
PIGT
Single nucleotide variant
(synonymous variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
(V194M +2 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
+1 more
GUncertain significance
PIGT
(P138S +2 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
PIGT
(G474S +3 more)
Inversion
(non-coding transcript variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
PIGT
(P194L +2 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
+1 more
GUncertain significance
PIGT
Microsatellite
(non-coding transcript variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
(G399D +3 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
PIGT
(R121H +2 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
PIGT
(R121C +2 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
PIGT
Single nucleotide variant
(intron variant)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
PIGT
(A8G)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
PIGT
Single nucleotide variant
(synonymous variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
(R394W +2 more)
Single nucleotide variant
(missense variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
PIGT
(L120P +2 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
PIGT
Single nucleotide variant
(synonymous variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
(W133fs +2 more)
Deletion
(frameshift variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GPathogenic
PIGT
Single nucleotide variant
(intron variant)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
(L7F)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
PIGT
Single nucleotide variant
(synonymous variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
Single nucleotide variant
(synonymous variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
(L91W +2 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
PIGT
(Q331E +3 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
PIGT
(P153L)
Single nucleotide variant
(missense variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
PIGT
Single nucleotide variant
(intron variant)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
(C182Y +2 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
PIGT
(R107C +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
PIGT
(P316A +3 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
PIGT
Single nucleotide variant
(synonymous variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
Single nucleotide variant
(synonymous variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
Single nucleotide variant
(synonymous variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
(A146S +2 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
+1 more
GUncertain significance
PIGT
(G16W)
Single nucleotide variant
(non-coding transcript variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
PIGT
Single nucleotide variant
(intron variant)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
(P38L)
Single nucleotide variant
(non-coding transcript variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
PIGT
(P379L +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
PIGT
Single nucleotide variant
(synonymous variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
Single nucleotide variant
(non-coding transcript variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
(A244P +2 more)
Single nucleotide variant
(missense variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
PIGT
Single nucleotide variant
(intron variant)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
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