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Items: 98

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PCNT
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PCNT
(G83R)
Single nucleotide variant
(5 prime UTR variant +1 more)
PCNT-related condition
+1 more
GUncertain significance
PCNT
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
PCNT
(P140S +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
PCNT
(S149G +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PCNT
Duplication
(inframe_insertion)
PCNT-related condition
+1 more
GConflicting classifications of pathogenicity
PCNT
(H156R +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PCNT
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
PCNT
(R230C +1 more)
Single nucleotide variant
(missense variant)
PCNT-related condition
+3 more
GConflicting classifications of pathogenicity
PCNT
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
PCNT
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
PCNT
(L292V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PCNT
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PCNT
(R320K +1 more)
Single nucleotide variant
(missense variant)
PCNT-related condition
+3 more
GUncertain significance
PCNT
(R362C +1 more)
Single nucleotide variant
(missense variant)
PCNT-related condition
+1 more
GUncertain significance
PCNT
(I416V +1 more)
Single nucleotide variant
(missense variant)
PCNT-related condition
+2 more
GConflicting classifications of pathogenicity
PCNT
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
PCNT
Single nucleotide variant
(synonymous variant)
PCNT-related condition
+1 more
GConflicting classifications of pathogenicity
PCNT
(P648R +1 more)
Single nucleotide variant
(missense variant)
PCNT-related condition
+2 more
GConflicting classifications of pathogenicity
PCNT
(K678R +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
PCNT
(Y703F +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PCNT
Single nucleotide variant
(intron variant)
PCNT-related condition
+2 more
GConflicting classifications of pathogenicity
PCNT
(T879A +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
PCNT
(R945C +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
PCNT
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
PCNT
(R983C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PCNT
(A995fs +1 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
PCNT
(V1038A +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
PCNT
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
PCNT
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
PCNT
(S1153G +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GLikely benign
PCNT
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
PCNT
(R1163C +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
PCNT
(T1178A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PCNT
Single nucleotide variant
(synonymous variant)
PCNT-related condition
+2 more
GConflicting classifications of pathogenicity
PCNT
(R1250W +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GLikely benign
PCNT
(E1253* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
PCNT
Single nucleotide variant
(synonymous variant)
PCNT-related condition
+2 more
GConflicting classifications of pathogenicity
PCNT
(R1370Q +1 more)
Single nucleotide variant
(missense variant)
PCNT-related condition
+2 more
GUncertain significance
PCNT
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
PCNT
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
PCNT
(R1429C +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
PCNT
(Q1449E +1 more)
Single nucleotide variant
(missense variant)
PCNT-related condition
+3 more
GBenign/Likely benign
PCNT
(G1452R +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
PCNT
(P1524R +1 more)
Single nucleotide variant
(missense variant)
PCNT-related condition
+3 more
GBenign/Likely benign
PCNT
(D1526N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PCNT
(M1559L +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PCNT
(D1621E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PCNT
(L1649P +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PCNT
(V1692I +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
PCNT
Single nucleotide variant
(synonymous variant)
PCNT-related condition
+3 more
GConflicting classifications of pathogenicity
PCNT
(N1841S +1 more)
Single nucleotide variant
(missense variant)
PCNT-related condition
+3 more
GBenign
PCNT
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PCNT
(E1872K +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
PCNT
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
PCNT
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
PCNT
(A1924V +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
PCNT
(A1952V +1 more)
Single nucleotide variant
(missense variant)
PCNT-related condition
+3 more
GConflicting classifications of pathogenicity
PCNT
(R1953H +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
PCNT
(H1958D +1 more)
Single nucleotide variant
(missense variant)
Microcephalic osteodysplastic primordial dwarfism type II
+3 more
GLikely benign
PCNT
(P1992L +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PCNT
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
PCNT
(A2209T +1 more)
Single nucleotide variant
(missense variant)
PCNT-related condition
+2 more
GUncertain significance
PCNT
(R2212W +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
PCNT
(R2212Q +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
PCNT
Single nucleotide variant
(synonymous variant)
PCNT-related condition
+2 more
GConflicting classifications of pathogenicity
PCNT
(F2319L +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
PCNT
(P2379L +1 more)
Single nucleotide variant
(missense variant)
PCNT-related condition
+2 more
GUncertain significance
PCNT
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PCNT
(L2434I +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
PCNT
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
PCNT
(R2525H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PCNT
(A2551V +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
PCNT
(R2552H +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PCNT
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
PCNT
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
PCNT
(E2656Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PCNT
(Q2659H +1 more)
Single nucleotide variant
(missense variant)
Microcephalic osteodysplastic primordial dwarfism type II
+2 more
GBenign
PCNT
(Q2792R +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign
PCNT
(V2801L +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
PCNT
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
PCNT
(A2891T)
Single nucleotide variant
(intron variant +1 more)
not specified
+2 more
GBenign/Likely benign
PCNT
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
PCNT
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
PCNT
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PCNT
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
PCNT
(L2983F +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PCNT
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
PCNT
(V2997M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PCNT
(L3049P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PCNT
(V3073M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PCNT
(H3083Y +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GLikely benign
PCNT
Single nucleotide variant
(intron variant)
Microcephalic osteodysplastic primordial dwarfism type II
+2 more
GBenign
PCNT
Single nucleotide variant
(synonymous variant)
PCNT-related condition
+1 more
GConflicting classifications of pathogenicity
PCNT
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
PCNT
(R3236Q +1 more)
Single nucleotide variant
(missense variant)
PCNT-related condition
+3 more
GConflicting classifications of pathogenicity
PCNT
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PCNT
(Q3336R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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