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Links from MedGen

Items: 1 to 100 of 585

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PCNT
(R270fs +1 more)
Microsatellite
(frameshift variant)
Microcephalic osteodysplastic primordial dwarfism type II
GPathogenic
PCNT
(R2411C +1 more)
Single nucleotide variant
(missense variant)
Microcephalic osteodysplastic primordial dwarfism type II
GUncertain significance
PCNT
(R2282H +1 more)
Single nucleotide variant
(missense variant)
Microcephalic osteodysplastic primordial dwarfism type II
GLikely benign
PCNT
Single nucleotide variant
(synonymous variant)
Microcephalic osteodysplastic primordial dwarfism type II
+1 more
GLikely benign
PCNT
(L1890F +1 more)
Single nucleotide variant
(missense variant)
Microcephalic osteodysplastic primordial dwarfism type II
GUncertain significance
PCNT
(E265* +1 more)
Single nucleotide variant
(nonsense)
Microcephalic osteodysplastic primordial dwarfism type II
GLikely pathogenic
PCNT
Single nucleotide variant
(splice acceptor variant)
Microcephalic osteodysplastic primordial dwarfism type II
+1 more
GLikely pathogenic
PCNT
(G183fs +1 more)
Deletion
(frameshift variant)
Microcephalic osteodysplastic primordial dwarfism type II
GLikely pathogenic
PCNT
(R2772Q +1 more)
Single nucleotide variant
(missense variant)
PCNT-related disorder
+1 more
GConflicting classifications of pathogenicity
PCNT
(L2556fs +1 more)
Duplication
(frameshift variant)
Microcephalic osteodysplastic primordial dwarfism type II
GLikely pathogenic
PCNT
(M2070fs +1 more)
Deletion
(frameshift variant)
Microcephalic osteodysplastic primordial dwarfism type II
GLikely pathogenic
PCNT
(Q820* +1 more)
Single nucleotide variant
(nonsense)
Microcephalic osteodysplastic primordial dwarfism type II
GLikely pathogenic
PCNT
(L1988fs +1 more)
Deletion
(frameshift variant)
Microcephalic osteodysplastic primordial dwarfism type II
GLikely pathogenic
PCNT
(R1851C +1 more)
Single nucleotide variant
(missense variant)
Microcephalic osteodysplastic primordial dwarfism type II
GUncertain significance
PCNT
Single nucleotide variant
(splice acceptor variant)
Microcephalic osteodysplastic primordial dwarfism type II
GLikely pathogenic
PCNT
Deletion
(splice acceptor variant +1 more)
Microcephalic osteodysplastic primordial dwarfism type II
GLikely pathogenic
PCNT
(E655* +1 more)
Single nucleotide variant
(nonsense)
Microcephalic osteodysplastic primordial dwarfism type II
GLikely pathogenic
PCNT
(V2741M +1 more)
Single nucleotide variant
(missense variant)
Microcephalic osteodysplastic primordial dwarfism type II
GUncertain significance
PCNT
(L3028V +1 more)
Single nucleotide variant
(missense variant)
Microcephalic osteodysplastic primordial dwarfism type II
GUncertain significance
PCNT
(D1760H +1 more)
Single nucleotide variant
(missense variant)
Microcephalic osteodysplastic primordial dwarfism type II
GUncertain significance
PCNT
(Q2416R +1 more)
Single nucleotide variant
(missense variant)
Microcephalic osteodysplastic primordial dwarfism type II
GUncertain significance
PCNT
(I3007T +1 more)
Single nucleotide variant
(missense variant)
Microcephalic osteodysplastic primordial dwarfism type II
+1 more
GUncertain significance
PCNT
(C2587F +1 more)
Single nucleotide variant
(missense variant)
Microcephalic osteodysplastic primordial dwarfism type II
GUncertain significance
PCNT
(I3137fs +1 more)
Duplication
(frameshift variant)
Microcephalic osteodysplastic primordial dwarfism type II
GUncertain significance
PCNT
(Q1192* +1 more)
Single nucleotide variant
(nonsense)
Microcephalic osteodysplastic primordial dwarfism type II
GLikely pathogenic
PCNT
(K327fs +1 more)
Deletion
(frameshift variant)
Microcephalic osteodysplastic primordial dwarfism type II
GLikely pathogenic
PCNT
Single nucleotide variant
(synonymous variant)
Microcephalic osteodysplastic primordial dwarfism type II
+1 more
GLikely benign
PCNT
Single nucleotide variant
(synonymous variant)
PCNT-related disorder
+2 more
GLikely benign
PCNT
(E2864G)
Single nucleotide variant
(missense variant +1 more)
Microcephalic osteodysplastic primordial dwarfism type II
+2 more
GUncertain significance
PCNT
(P3054L +1 more)
Single nucleotide variant
(missense variant)
Microcephalic osteodysplastic primordial dwarfism type II
+1 more
GUncertain significance
PCNT
(L688F +1 more)
Single nucleotide variant
(missense variant)
Microcephalic osteodysplastic primordial dwarfism type II
+2 more
GConflicting classifications of pathogenicity
PCNT
(R2610C +1 more)
Single nucleotide variant
(missense variant)
Microcephalic osteodysplastic primordial dwarfism type II
+2 more
GUncertain significance
PCNT
(S362G +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
PCNT
Single nucleotide variant
(splice donor variant)
Microcephalic osteodysplastic primordial dwarfism type II
+1 more
GLikely pathogenic
PCNT
(Q2899*)
Single nucleotide variant
(nonsense +1 more)
Microcephalic osteodysplastic primordial dwarfism type II
GPathogenic
PCNT
(A2218T +1 more)
Single nucleotide variant
(missense variant)
PCNT-related disorder
+1 more
GConflicting classifications of pathogenicity
PCNT
(Q1076H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PCNT
(N2035S +1 more)
Single nucleotide variant
(missense variant)
Microcephalic osteodysplastic primordial dwarfism type II
+2 more
GConflicting classifications of pathogenicity
PCNT
Duplication
(inframe_insertion)
Microcephalic osteodysplastic primordial dwarfism type II
+2 more
GUncertain significance
PCNT
(S2433L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
PCNT
(Q2445H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PCNT
(N1569fs +1 more)
Deletion
(frameshift variant)
Microcephalic osteodysplastic primordial dwarfism type II
GPathogenic
PCNT
(A2231P +1 more)
Single nucleotide variant
(missense variant)
PCNT-related disorder
+3 more
GConflicting classifications of pathogenicity
PCNT
Single nucleotide variant
(synonymous variant)
PCNT-related disorder
+3 more
GLikely benign
PCNT
(E209Q +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
PCNT
(Q364* +1 more)
Single nucleotide variant
(nonsense)
Microcephalic osteodysplastic primordial dwarfism type II
GPathogenic
PCNT
(V3L)
Single nucleotide variant
(missense variant)
Microcephalic osteodysplastic primordial dwarfism type II
GLikely benign
PCNT
(E2646Q +1 more)
Single nucleotide variant
(missense variant)
Microcephalic osteodysplastic primordial dwarfism type II
GUncertain significance
PCNT
Deletion
Microcephalic osteodysplastic primordial dwarfism type II
GLikely pathogenic
PCNT
(K2386fs +1 more)
Deletion
(frameshift variant)
Microcephalic osteodysplastic primordial dwarfism type II
GPathogenic
PCNT
Single nucleotide variant
(splice donor variant)
Microcephalic osteodysplastic primordial dwarfism type II
GPathogenic
PCNT
(S1434* +1 more)
Single nucleotide variant
(nonsense)
Microcephalic osteodysplastic primordial dwarfism type II
GPathogenic
PCNT
Single nucleotide variant
(splice acceptor variant)
Microcephalic osteodysplastic primordial dwarfism type II
GPathogenic
PCNT
(P2177L +1 more)
Single nucleotide variant
(missense variant)
PCNT-related disorder
+2 more
GUncertain significance
PCNT
Duplication
(intron variant)
Microcephalic osteodysplastic primordial dwarfism type II
+1 more
GBenign
PCNT
(Y2942* +1 more)
Single nucleotide variant
(nonsense)
Microcephalic osteodysplastic primordial dwarfism type II
GLikely pathogenic
PCNT
(V2020fs +1 more)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
PCNT
(Q2697K +1 more)
Single nucleotide variant
(missense variant)
Microcephalic osteodysplastic primordial dwarfism type II
GUncertain significance
PCNT
(P2062L +1 more)
Single nucleotide variant
(missense variant)
Microcephalic osteodysplastic primordial dwarfism type II
GUncertain significance
PCNT
(K1458R +1 more)
Single nucleotide variant
(missense variant)
Microcephalic osteodysplastic primordial dwarfism type II
GUncertain significance
PCNT
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
PCNT
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
PCNT
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
PCNT
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
PCNT
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
PCNT
(L487V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PCNT
(S2149L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
PCNT
(R2635C +1 more)
Single nucleotide variant
(missense variant)
Microcephalic osteodysplastic primordial dwarfism type II
GUncertain significance
PCNT
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
PCNT
(Q685* +1 more)
Single nucleotide variant
(nonsense)
Microcephalic osteodysplastic primordial dwarfism type II
GPathogenic
PCNT
(Q1789* +1 more)
Single nucleotide variant
(nonsense)
Microcephalic osteodysplastic primordial dwarfism type II
GPathogenic
PCNT
(T361fs +1 more)
Deletion
(frameshift variant)
Microcephalic osteodysplastic primordial dwarfism type II
GPathogenic
PCNT
(E2624fs +1 more)
Deletion
(frameshift variant)
Microcephalic osteodysplastic primordial dwarfism type II
GPathogenic
PCNT
(R2585* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
PCNT
(K1541fs +1 more)
Deletion
(frameshift variant)
Microcephalic osteodysplastic primordial dwarfism type II
GPathogenic
PCNT
Single nucleotide variant
(splice acceptor variant)
Microcephalic osteodysplastic primordial dwarfism type II
GPathogenic
PCNT
(E1106* +1 more)
Duplication
(nonsense)
Microcephalic osteodysplastic primordial dwarfism type II
GLikely pathogenic
PCNT
(Q1568fs +1 more)
Duplication
(frameshift variant)
Microcephalic osteodysplastic primordial dwarfism type II
GLikely pathogenic
PCNT
Single nucleotide variant
(splice donor variant)
Microcephalic osteodysplastic primordial dwarfism type II
GLikely benign
PCNT
(Q1697* +1 more)
Single nucleotide variant
(nonsense)
Microcephalic osteodysplastic primordial dwarfism type II
GLikely pathogenic
PCNT
(S1024fs +1 more)
Deletion
(frameshift variant)
Microcephalic osteodysplastic primordial dwarfism type II
GLikely pathogenic
PCNT
(H203fs +1 more)
Deletion
(frameshift variant)
Microcephalic osteodysplastic primordial dwarfism type II
+1 more
GPathogenic/Likely pathogenic
LOC130066875, PCNT
Single nucleotide variant
(5 prime UTR variant)
Microcephalic osteodysplastic primordial dwarfism type II
GUncertain significance
PCNT
Single nucleotide variant
Microcephalic osteodysplastic primordial dwarfism type II
GUncertain significance
PCNT
Single nucleotide variant
(3 prime UTR variant)
Microcephalic osteodysplastic primordial dwarfism type II
GUncertain significance
PCNT
Single nucleotide variant
(3 prime UTR variant)
Microcephalic osteodysplastic primordial dwarfism type II
GUncertain significance
PCNT
(E2897Q +1 more)
Single nucleotide variant
(missense variant)
PCNT-related disorder
+1 more
GUncertain significance
PCNT
Single nucleotide variant
(synonymous variant)
PCNT-related disorder
+2 more
GBenign/Likely benign
PCNT
(S2896L +1 more)
Single nucleotide variant
(missense variant)
PCNT-related disorder
+2 more
GUncertain significance
PCNT
(L2887V +1 more)
Single nucleotide variant
(missense variant)
Microcephalic osteodysplastic primordial dwarfism type II
GUncertain significance
PCNT
(R2881W)
Single nucleotide variant
(missense variant +1 more)
Microcephalic osteodysplastic primordial dwarfism type II
GUncertain significance
PCNT
Single nucleotide variant
(synonymous variant)
Microcephalic osteodysplastic primordial dwarfism type II
+1 more
GConflicting classifications of pathogenicity
PCNT
Single nucleotide variant
(intron variant)
Microcephalic osteodysplastic primordial dwarfism type II
GUncertain significance
PCNT
Single nucleotide variant
(synonymous variant)
PCNT-related disorder
+2 more
GConflicting classifications of pathogenicity
PCNT
(Q1820P +1 more)
Single nucleotide variant
(missense variant)
Microcephalic osteodysplastic primordial dwarfism type II
GUncertain significance
PCNT
(T1702M +1 more)
Single nucleotide variant
(missense variant)
PCNT-related disorder
+1 more
GUncertain significance
PCNT
(N1680T +1 more)
Single nucleotide variant
(missense variant)
Microcephalic osteodysplastic primordial dwarfism type II
GUncertain significance
PCNT
(R1532Q +1 more)
Single nucleotide variant
(missense variant)
Microcephalic osteodysplastic primordial dwarfism type II
GUncertain significance
PCNT
(R1290W +1 more)
Single nucleotide variant
(missense variant)
Microcephalic osteodysplastic primordial dwarfism type II
+3 more
GConflicting classifications of pathogenicity
PCNT
(R956Q +1 more)
Single nucleotide variant
(missense variant)
PCNT-related disorder
+2 more
GUncertain significance
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