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Links from MedGen

Items: 1 to 100 of 284

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EXOSC3
(E38*)
Single nucleotide variant
(nonsense)
Pontoneocerebellar hypoplasia
GLikely pathogenic
VPS53
Duplication
Pontoneocerebellar hypoplasia
GLikely pathogenic
TSEN54
Deletion
(splice donor variant)
Pontoneocerebellar hypoplasia
GLikely pathogenic
TSEN2
(K261* +2 more)
Single nucleotide variant
(nonsense +1 more)
Pontoneocerebellar hypoplasia
GPathogenic
RARS2
Single nucleotide variant
(splice donor variant)
Pontoneocerebellar hypoplasia
+2 more
GPathogenic/Likely pathogenic
RARS2
(R146fs)
Indel
(frameshift variant +3 more)
Pontoneocerebellar hypoplasia
+1 more
GPathogenic/Likely pathogenic
VRK1
(S116fs)
Deletion
(frameshift variant)
Pontoneocerebellar hypoplasia
GPathogenic
RARS2
(S322* +1 more)
Single nucleotide variant
(nonsense +1 more)
Pontoneocerebellar hypoplasia
GLikely pathogenic
CHMP1A
(P84L +1 more)
Single nucleotide variant
(missense variant +2 more)
Pontoneocerebellar hypoplasia
GLikely pathogenic
LOC126862456, VPS53
Single nucleotide variant
(splice donor variant)
Pontoneocerebellar hypoplasia
GLikely pathogenic
TSEN54
(V288fs)
Duplication
(frameshift variant)
Pontoneocerebellar hypoplasia
+1 more
GPathogenic
EXOSC3
(Q105fs)
Microsatellite
(frameshift variant)
Pontoneocerebellar hypoplasia
+1 more
GPathogenic/Likely pathogenic
CLP1
(R19*)
Single nucleotide variant
(nonsense)
Pontoneocerebellar hypoplasia
GLikely pathogenic
AMPD2
(L152fs +3 more)
Deletion
(frameshift variant)
Pontoneocerebellar hypoplasia
+2 more
GPathogenic/Likely pathogenic
VPS53
Single nucleotide variant
(splice donor variant)
Pontoneocerebellar hypoplasia
GLikely pathogenic
EXOSC3
(R186*)
Single nucleotide variant
(nonsense +1 more)
Pontoneocerebellar hypoplasia
+1 more
GPathogenic/Likely pathogenic
VPS53
(Q170fs +1 more)
Deletion
(frameshift variant +1 more)
Pontoneocerebellar hypoplasia
GLikely pathogenic
VPS53
Deletion
Pontoneocerebellar hypoplasia
GLikely pathogenic
VPS53
(W261* +2 more)
Single nucleotide variant
(nonsense)
Pontoneocerebellar hypoplasia
GLikely pathogenic
RARS2
Single nucleotide variant
(splice donor variant)
Pontoneocerebellar hypoplasia
+1 more
GLikely pathogenic
TSEN2
Single nucleotide variant
(splice donor variant)
Pontoneocerebellar hypoplasia
+1 more
GConflicting classifications of pathogenicity
RARS2
(D368fs +1 more)
Deletion
(frameshift variant +1 more)
Pontoneocerebellar hypoplasia
GLikely pathogenic
VRK1
Deletion
Pontoneocerebellar hypoplasia
GLikely pathogenic
TSEN2
(R393* +2 more)
Single nucleotide variant
(nonsense +2 more)
Pontoneocerebellar hypoplasia
+1 more
GConflicting classifications of pathogenicity
TSEN54
(F512fs)
Deletion
(frameshift variant)
Pontoneocerebellar hypoplasia
GLikely pathogenic
EXOSC3
Deletion
(intron variant +1 more)
Pontoneocerebellar hypoplasia
GLikely pathogenic
MINPP1
(I142fs +1 more)
Microsatellite
(frameshift variant +1 more)
Pontoneocerebellar hypoplasia
GPathogenic
RARS2
(M1I)
Single nucleotide variant
(5 prime UTR variant +3 more)
Pontoneocerebellar hypoplasia
+1 more
GPathogenic
RARS2
Single nucleotide variant
(intron variant)
Pontoneocerebellar hypoplasia
+2 more
GPathogenic/Likely pathogenic
LOC129992330, SEPSECS
Single nucleotide variant
(intron variant)
not provided
+2 more
GPathogenic/Likely pathogenic
RARS2
(E212fs +1 more)
Deletion
(frameshift variant +1 more)
Pontocerebellar hypoplasia type 6
+2 more
GPathogenic/Likely pathogenic
EXOSC3
(M1T)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
LOC129936171, TSEN2
Single nucleotide variant
(5 prime UTR variant +1 more)
Pontoneocerebellar hypoplasia
GUncertain significance
LOC129936171, TSEN2
Single nucleotide variant
(5 prime UTR variant +1 more)
Pontoneocerebellar hypoplasia
GUncertain significance
TSEN2
Single nucleotide variant
(3 prime UTR variant +1 more)
Pontoneocerebellar hypoplasia
GUncertain significance
TSEN2
(L175F +1 more)
Single nucleotide variant
(missense variant +1 more)
Pontoneocerebellar hypoplasia
+1 more
GUncertain significance
LOC129936171, TSEN2
Single nucleotide variant
(5 prime UTR variant +1 more)
Pontoneocerebellar hypoplasia
GUncertain significance
LOC129936171, TSEN2
Single nucleotide variant
(5 prime UTR variant +1 more)
Pontoneocerebellar hypoplasia
GUncertain significance
LOC129936171, TSEN2
Single nucleotide variant
(5 prime UTR variant +1 more)
Pontoneocerebellar hypoplasia
GLikely benign
LOC129936171, TSEN2
Single nucleotide variant
(5 prime UTR variant +1 more)
Pontoneocerebellar hypoplasia
GUncertain significance
TSEN2
(T164I)
Single nucleotide variant
(missense variant +1 more)
Pontoneocerebellar hypoplasia
GUncertain significance
TSEN2
Single nucleotide variant
(3 prime UTR variant +1 more)
Pontoneocerebellar hypoplasia
GUncertain significance
TSEN2
Single nucleotide variant
(3 prime UTR variant +1 more)
Pontoneocerebellar hypoplasia
GUncertain significance
TSEN2
Single nucleotide variant
(3 prime UTR variant +1 more)
Pontoneocerebellar hypoplasia
GUncertain significance
TSEN2
Single nucleotide variant
(3 prime UTR variant +2 more)
Pontoneocerebellar hypoplasia
GUncertain significance
TSEN2
(M360L +2 more)
Single nucleotide variant
(missense variant +1 more)
Pontoneocerebellar hypoplasia
GUncertain significance
TSEN2
Single nucleotide variant
(intron variant)
Pontoneocerebellar hypoplasia
GUncertain significance
TSEN2
Single nucleotide variant
(synonymous variant +1 more)
Pontoneocerebellar hypoplasia
GUncertain significance
TSEN2
Single nucleotide variant
(5 prime UTR variant +1 more)
Pontoneocerebellar hypoplasia
GUncertain significance
TSEN34
Single nucleotide variant
(3 prime UTR variant)
Pontoneocerebellar hypoplasia
GUncertain significance
TSEN34
Single nucleotide variant
(3 prime UTR variant)
Pontoneocerebellar hypoplasia
GUncertain significance
TSEN34
Single nucleotide variant
(3 prime UTR variant)
Pontoneocerebellar hypoplasia
GUncertain significance
TSEN34
(R105Q)
Single nucleotide variant
(missense variant)
Pontoneocerebellar hypoplasia
+1 more
GBenign/Likely benign
TSEN34
Single nucleotide variant
(3 prime UTR variant)
Pontoneocerebellar hypoplasia
GUncertain significance
TSEN34
Single nucleotide variant
(3 prime UTR variant)
Pontoneocerebellar hypoplasia
GUncertain significance
TSEN34
Single nucleotide variant
(3 prime UTR variant)
Pontoneocerebellar hypoplasia
GLikely benign
TSEN34
Single nucleotide variant
(synonymous variant)
Pontoneocerebellar hypoplasia
GUncertain significance
TSEN34
(E92Q)
Single nucleotide variant
(missense variant)
Pontoneocerebellar hypoplasia
+2 more
GConflicting classifications of pathogenicity
TSEN34
Single nucleotide variant
(synonymous variant)
Pontoneocerebellar hypoplasia
GUncertain significance
TSEN34
Single nucleotide variant
(synonymous variant)
Pontoneocerebellar hypoplasia
GUncertain significance
TSEN34
Single nucleotide variant
(3 prime UTR variant)
Pontoneocerebellar hypoplasia
GBenign
TSEN34
Single nucleotide variant
(3 prime UTR variant)
Pontoneocerebellar hypoplasia
GUncertain significance
TSEN34
(E302D)
Single nucleotide variant
(3 prime UTR variant +1 more)
Pontoneocerebellar hypoplasia
GUncertain significance
TSEN34
Single nucleotide variant
(3 prime UTR variant +1 more)
Pontoneocerebellar hypoplasia
GUncertain significance
TSEN34
(R25C)
Single nucleotide variant
(missense variant)
Pontoneocerebellar hypoplasia
GUncertain significance
TSEN34
Single nucleotide variant
(3 prime UTR variant)
Pontoneocerebellar hypoplasia
GUncertain significance
TSEN34
Single nucleotide variant
(3 prime UTR variant +1 more)
Pontoneocerebellar hypoplasia
+1 more
GBenign/Likely benign
TSEN54
Single nucleotide variant
(3 prime UTR variant)
Pontoneocerebellar hypoplasia
GUncertain significance
TSEN54
Single nucleotide variant
(3 prime UTR variant)
Pontoneocerebellar hypoplasia
GUncertain significance
TSEN54
(G402V)
Single nucleotide variant
(missense variant)
Pontoneocerebellar hypoplasia
GUncertain significance
TSEN54
(R388P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TSEN54
(H356R)
Single nucleotide variant
(missense variant)
Pontoneocerebellar hypoplasia
GUncertain significance
TSEN54
(R344C)
Single nucleotide variant
(missense variant)
Pontoneocerebellar hypoplasia
GUncertain significance
LOC112533671, TSEN54
(E6Q)
Single nucleotide variant
(missense variant)
Pontoneocerebellar hypoplasia
+1 more
GUncertain significance
TSEN54
(M473K)
Single nucleotide variant
(missense variant)
Pontoneocerebellar hypoplasia
GUncertain significance
TSEN54
(F461L)
Single nucleotide variant
(missense variant)
Pontoneocerebellar hypoplasia
+1 more
GUncertain significance
TSEN54
(F298L)
Single nucleotide variant
(missense variant)
Pontoneocerebellar hypoplasia
GUncertain significance
TSEN54
Single nucleotide variant
(synonymous variant)
Pontoneocerebellar hypoplasia
+1 more
GConflicting classifications of pathogenicity
TSEN54
(G274E)
Single nucleotide variant
(missense variant)
Pontoneocerebellar hypoplasia
GUncertain significance
TSEN54
(S249R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TSEN54
(P179R)
Single nucleotide variant
(missense variant)
Pontoneocerebellar hypoplasia
+1 more
GUncertain significance
TSEN54
Single nucleotide variant
(intron variant)
Pontoneocerebellar hypoplasia
GUncertain significance
TSEN54
(C123S)
Single nucleotide variant
(missense variant)
Pontoneocerebellar hypoplasia
+1 more
GUncertain significance
TSEN54
Single nucleotide variant
(intron variant)
Pontoneocerebellar hypoplasia
GUncertain significance
ATOH1
(R161G)
Single nucleotide variant
(missense variant)
See cases
+3 more
GUncertain significance
RARS2
(M1R)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
+2 more
GPathogenic/Likely pathogenic
AMPD2, LOC126805822
(R385* +3 more)
Single nucleotide variant
(nonsense)
Pontoneocerebellar hypoplasia
+2 more
GPathogenic/Likely pathogenic
TSEN54
(P114L)
Single nucleotide variant
(missense variant)
Pontoneocerebellar hypoplasia
GUncertain significance
TSEN54
(A360V)
Single nucleotide variant
(missense variant)
Pontoneocerebellar hypoplasia
+1 more
GConflicting classifications of pathogenicity
TSEN2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign/Likely benign
RARS2
(L283Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
TSEN2
(R291* +2 more)
Single nucleotide variant
(nonsense +1 more)
Pontocerebellar hypoplasia type 2B
+1 more
GConflicting classifications of pathogenicity
TSEN34
(Q97*)
Single nucleotide variant
(nonsense)
Pontoneocerebellar hypoplasia
GUncertain significance
RARS2
(R469H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
VPS53
Deletion
(splice donor variant)
Pontoneocerebellar hypoplasia
+2 more
GLikely pathogenic
TSEN34
Single nucleotide variant
(synonymous variant)
Pontoneocerebellar hypoplasia
+1 more
GConflicting classifications of pathogenicity
TSEN2
Single nucleotide variant
(synonymous variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
TSEN2
(Q118fs)
Deletion
(frameshift variant +1 more)
Pontoneocerebellar hypoplasia
+1 more
GLikely pathogenic
TSEN54
(G124V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TSEN54
Single nucleotide variant
(intron variant)
Pontoneocerebellar hypoplasia
+1 more
GUncertain significance
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