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Links from MedGen

Items: 45

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MED12L, P2RY12
(I1218V +1 more)
Single nucleotide variant
(missense variant +1 more)
Nizon-Isidor syndrome
GUncertain significance
MED12L
Single nucleotide variant
(intron variant)
Nizon-Isidor syndrome
GUncertain significance
MED12L
(R1920W +1 more)
Single nucleotide variant
(missense variant)
Nizon-Isidor syndrome
GUncertain significance
MED12L
(Q189*)
Single nucleotide variant
(nonsense)
Nizon-Isidor syndrome
GLikely pathogenic
MED12L
(D1782V +1 more)
Single nucleotide variant
(missense variant)
Nizon-Isidor syndrome
GUncertain significance
MED12L
(W116*)
Single nucleotide variant
(nonsense)
Nizon-Isidor syndrome
GLikely pathogenic
MED12L, P2RY12
Single nucleotide variant
(splice donor variant +1 more)
Nizon-Isidor syndrome
GLikely pathogenic
MED12L
(R2061fs +1 more)
Microsatellite
(frameshift variant)
Nizon-Isidor syndrome
GLikely pathogenic
MED12L
(P1921R +1 more)
Single nucleotide variant
(missense variant)
Nizon-Isidor syndrome
GUncertain significance
MED12L
(W1690G +1 more)
Single nucleotide variant
(missense variant)
Nizon-Isidor syndrome
GUncertain significance
MED12L, P2RY12
Single nucleotide variant
(splice donor variant +1 more)
Nizon-Isidor syndrome
GLikely pathogenic
MED12L
(G2106A +1 more)
Single nucleotide variant
(missense variant)
Nizon-Isidor syndrome
GUncertain significance
MED12L
(P1742L +1 more)
Single nucleotide variant
(missense variant)
Nizon-Isidor syndrome
GUncertain significance
MED12L
(L621F)
Single nucleotide variant
(missense variant)
Nizon-Isidor syndrome
GUncertain significance
MED12L
(A50T)
Single nucleotide variant
(missense variant)
Nizon-Isidor syndrome
GUncertain significance
MED12L
(A1975T +1 more)
Single nucleotide variant
(missense variant)
Nizon-Isidor syndrome
+1 more
GUncertain significance
MED12L, P2RY12
(Q1146E +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
MED12L
(P1742* +1 more)
Indel
(nonsense)
Nizon-Isidor syndrome
GLikely pathogenic
MED12L, P2RY12
(C1268W +1 more)
Single nucleotide variant
(missense variant +1 more)
Nizon-Isidor syndrome
GUncertain significance
MED12L
(R155Q)
Single nucleotide variant
(missense variant)
Nizon-Isidor syndrome
GUncertain significance
MED12L, P2RY12
(C882fs +1 more)
Microsatellite
(frameshift variant +1 more)
Nizon-Isidor syndrome
GLikely pathogenic
MED12L
(Q706* +1 more)
Single nucleotide variant
(nonsense)
Nizon-Isidor syndrome
GLikely pathogenic
MED12L
(C666Y +1 more)
Single nucleotide variant
(missense variant)
Nizon-Isidor syndrome
GUncertain significance
MED12L
(S1831F +1 more)
Single nucleotide variant
(missense variant)
Nizon-Isidor syndrome
GUncertain significance
MED12L
(E234G)
Single nucleotide variant
(missense variant)
MED12L-related condition
+1 more
GUncertain significance
MED12L, P2RY12
(I1361V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
MED12L, P2RY12
Single nucleotide variant
(intron variant)
Nizon-Isidor syndrome
GUncertain significance
MED12L
(L272H)
Single nucleotide variant
(missense variant)
Nizon-Isidor syndrome
GUncertain significance
MED12L
(P2073S +1 more)
Single nucleotide variant
(missense variant)
Nizon-Isidor syndrome
GUncertain significance
MED12L
(R1901Q +1 more)
Single nucleotide variant
(missense variant)
Nizon-Isidor syndrome
GUncertain significance
MED12L
(R473*)
Single nucleotide variant
(nonsense)
Nizon-Isidor syndrome
GUncertain significance
MED12L
(C681F +1 more)
Single nucleotide variant
(missense variant)
Nizon-Isidor syndrome
+1 more
GConflicting classifications of pathogenicity
MED12L, P2RY12
(R1210Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Nizon-Isidor syndrome
GBenign
MED12L, P2RY12
Single nucleotide variant
(intron variant)
Nizon-Isidor syndrome
GBenign
MED12L, P2RY12
Single nucleotide variant
(synonymous variant +1 more)
Nizon-Isidor syndrome
GBenign
MED12L, P2RY12
Single nucleotide variant
(intron variant)
Nizon-Isidor syndrome
GBenign
MED12L
Single nucleotide variant
(intron variant)
Nizon-Isidor syndrome
GBenign
MED12L
(D1633V +1 more)
Single nucleotide variant
(missense variant)
Nizon-Isidor syndrome
GUncertain significance
P2RY12, MED12L
(L836F +1 more)
Single nucleotide variant
(missense variant +1 more)
Nizon-Isidor syndrome
GUncertain significance
MED12L
(R624*)
Single nucleotide variant
(nonsense)
Nizon-Isidor syndrome
GLikely pathogenic
MED12L, P2RY12
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
MED12L, P2RY12
(E1302* +1 more)
Single nucleotide variant
(nonsense +1 more)
Nizon-Isidor syndrome
GLikely pathogenic
MED12L, P2RY12
Single nucleotide variant
(splice acceptor variant +1 more)
Nizon-Isidor syndrome
GPathogenic
MED12L
(S583fs)
Duplication
(frameshift variant)
Nizon-Isidor syndrome
GPathogenic
P2RY12, MED12L
Single nucleotide variant
(splice acceptor variant +1 more)
Intellectual disability
+1 more
GPathogenic
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