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Links from MedGen

Items: 66

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POLR2A
(V144F)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
GUncertain significance
POLR2A
(G69V)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
GUncertain significance
POLR2A
(S1831N)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
GUncertain significance
POLR2A
(R192Q)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
GUncertain significance
POLR2A
(P1711R)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
GUncertain significance
LOC126862482, POLR2A
(S1290C)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
GUncertain significance
POLR2A
(S1845del)
Microsatellite
(inframe_deletion)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
GUncertain significance
POLR2A
(G165S)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
GUncertain significance
LOC126862482, POLR2A
(F1388L)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
GUncertain significance
POLR2A
(M248L)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
GLikely pathogenic
POLR2A
(Y763*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
GPathogenic
POLR2A
(T1915fs)
Deletion
(frameshift variant)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
GUncertain significance
POLR2A
(P371L)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
GLikely pathogenic
POLR2A, LOC126862481
(I848T)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
GLikely pathogenic
POLR2A
(I283V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
POLR2A
(S1131C)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
GUncertain significance
POLR2A
Single nucleotide variant
(intron variant)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
GUncertain significance
POLR2A
(F23L)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
GUncertain significance
POLR2A
(Q210*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
GLikely pathogenic
POLR2A
(S1700L)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
+1 more
GUncertain significance
POLR2A
(T1891I)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
GUncertain significance
POLR2A
Single nucleotide variant
(intron variant)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
GUncertain significance
POLR2A
(V260M)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
GLikely pathogenic
POLR2A
(R963W)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
GUncertain significance
LOC126862482, POLR2A
(N1316D)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
GUncertain significance
POLR2A
(S1549C)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
+1 more
GUncertain significance
POLR2A
(K1859N)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
GUncertain significance
POLR2A
(P1122S)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
GUncertain significance
POLR2A
(D1250G)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
+1 more
GUncertain significance
POLR2A
(R460Q)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
GLikely pathogenic
POLR2A
Single nucleotide variant
(intron variant)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
GBenign
POLR2A
Single nucleotide variant
(synonymous variant)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
GBenign
POLR2A
Single nucleotide variant
(intron variant)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
GBenign
POLR2A
Single nucleotide variant
(intron variant)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
GBenign
POLR2A
Single nucleotide variant
(intron variant)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
GBenign
POLR2A
Single nucleotide variant
(intron variant)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
GBenign
POLR2A
(D611V)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
GUncertain significance
POLR2A
(D454fs)
Duplication
(frameshift variant)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
GLikely pathogenic
POLR2A
Single nucleotide variant
(intron variant)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
GUncertain significance
POLR2A
(P1613S)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
GUncertain significance
POLR2A
(A756T)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
GUncertain significance
POLR2A
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
POLR2A
(N722S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
POLR2A
(K1125del)
Deletion
(inframe_deletion)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
GLikely pathogenic
LOC126862481, POLR2A
(A897T)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
GUncertain significance
POLR2A
(R1258H)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
GUncertain significance
PUF60
(R407G +9 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
GLikely pathogenic
POLR2A
(S648*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
GLikely pathogenic
POLR2A
(R1123Q)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
+1 more
GPathogenic/Likely pathogenic
LOC126862481, POLR2A
(F836L)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
GLikely pathogenic
POLR2A
(R1810*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
GPathogenic/Likely pathogenic
POLR2A
(A1092V)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
GLikely pathogenic
POLR2A
(R140W)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
GUncertain significance
POLR2A
(R108H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POLR2A
(P28R)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
GUncertain significance
POLR2A
(Q1814fs)
Microsatellite
(frameshift variant)
Inborn genetic diseases
GUncertain significance
LOC126862482, POLR2A
(G1418R)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
GPathogenic
POLR2A
(N1251S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely pathogenic
POLR2A
(T1136I)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
GLikely pathogenic
POLR2A
(S1094F)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder
GLikely pathogenic
POLR2A
Deletion
(inframe_deletion)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
GLikely pathogenic
POLR2A
(L1124P)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
GPathogenic
POLR2A
(T736M)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
GPathogenic
POLR2A
(Q735*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
GLikely pathogenic
POLR2A
(Q700*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
GPathogenic
POLR2A
(I457T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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