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Links from MedGen

Items: 1 to 100 of 131

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SEPSECS
(A165T +1 more)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 2D
GUncertain significance
SEPSECS
(M146T +1 more)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 2D
GUncertain significance
SEPSECS
(S356L +1 more)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 2D
GUncertain significance
SEPSECS
(S393L +1 more)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 2D
+1 more
GUncertain significance
SEPSECS
(E343fs)
Microsatellite
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
SEPSECS
(R156Q)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 2D
GUncertain significance
SEPSECS
(M1L)
Single nucleotide variant
(missense variant +1 more)
Pontocerebellar hypoplasia type 2D
GPathogenic
SEPSECS
Deletion
(intron variant)
not provided
GBenign
SEPSECS
(M1V)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
SEPSECS
(I275V)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 2D
GUncertain significance
LOC129992330, SEPSECS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SEPSECS
(R271*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
SEPSECS
(H383fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
SEPSECS
(R156*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
SEPSECS
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GLikely pathogenic
SEPSECS
(R86C)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 2D
GUncertain significance
SEPSECS
(H88Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEPSECS
(W167R)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 2D
GUncertain significance
SEPSECS
Single nucleotide variant
(intron variant)
Pontocerebellar hypoplasia type 2D
GUncertain significance
SEPSECS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SEPSECS
(A374T)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 2D
GUncertain significance
SEPSECS
(L408F)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 2D
GUncertain significance
SEPSECS
(Y417C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SEPSECS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SEPSECS
(I451V)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 2D
GUncertain significance
SEPSECS
(E464*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
SEPSECS
(A485T)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 2D
GUncertain significance
SEPSECS
(K487N)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 2D
GUncertain significance
SEPSECS
Single nucleotide variant
(3 prime UTR variant)
Pontocerebellar hypoplasia type 2D
GUncertain significance
LOC129992330, SEPSECS
Single nucleotide variant
(intron variant)
not provided
+2 more
GPathogenic/Likely pathogenic
SEPSECS
(R271L)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 2D
GUncertain significance
SEPSECS, LOC129992330
(I32R)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 2D
GUncertain significance
SEPSECS
Single nucleotide variant
(3 prime UTR variant)
Pontocerebellar hypoplasia type 2D
GBenign
SEPSECS
Single nucleotide variant
(3 prime UTR variant)
Pontocerebellar hypoplasia type 2D
GUncertain significance
SEPSECS
Single nucleotide variant
(3 prime UTR variant)
Pontocerebellar hypoplasia type 2D
GUncertain significance
SEPSECS
Single nucleotide variant
(3 prime UTR variant)
Pontocerebellar hypoplasia type 2D
GUncertain significance
SEPSECS
Single nucleotide variant
(3 prime UTR variant)
Pontocerebellar hypoplasia type 2D
GUncertain significance
SEPSECS
Single nucleotide variant
(3 prime UTR variant)
Pontocerebellar hypoplasia type 2D
GUncertain significance
SEPSECS
Single nucleotide variant
(intron variant)
Pontocerebellar hypoplasia type 2D
+1 more
GConflicting classifications of pathogenicity
SEPSECS
Single nucleotide variant
(intron variant)
Pontocerebellar hypoplasia type 2D
+1 more
GConflicting classifications of pathogenicity
SEPSECS
Single nucleotide variant
(3 prime UTR variant)
Pontocerebellar hypoplasia type 2D
GUncertain significance
SEPSECS
Single nucleotide variant
(3 prime UTR variant)
Pontocerebellar hypoplasia type 2D
GUncertain significance
SEPSECS
Single nucleotide variant
(3 prime UTR variant)
Pontocerebellar hypoplasia type 2D
GUncertain significance
SEPSECS
Single nucleotide variant
(3 prime UTR variant)
Pontocerebellar hypoplasia type 2D
GBenign
SEPSECS
(L212V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SEPSECS
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SEPSECS
(M394T)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 2D
GUncertain significance
SEPSECS
Single nucleotide variant
(3 prime UTR variant)
Pontocerebellar hypoplasia type 2D
GUncertain significance
SEPSECS
Single nucleotide variant
(3 prime UTR variant)
Pontocerebellar hypoplasia type 2D
GUncertain significance
SEPSECS
Single nucleotide variant
(3 prime UTR variant)
Pontocerebellar hypoplasia type 2D
GUncertain significance
SEPSECS
Single nucleotide variant
(3 prime UTR variant)
Pontocerebellar hypoplasia type 2D
GUncertain significance
SEPSECS
Single nucleotide variant
(3 prime UTR variant)
Pontocerebellar hypoplasia type 2D
GUncertain significance
SEPSECS
(F419L)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 2D
GUncertain significance
SEPSECS
(M442I)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 2D
GUncertain significance
SEPSECS
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 2D
GUncertain significance
SEPSECS
Single nucleotide variant
(3 prime UTR variant)
Pontocerebellar hypoplasia type 2D
GUncertain significance
SEPSECS
Single nucleotide variant
(3 prime UTR variant)
Pontocerebellar hypoplasia type 2D
GUncertain significance
SEPSECS
Single nucleotide variant
(3 prime UTR variant)
Pontocerebellar hypoplasia type 2D
GUncertain significance
SEPSECS
(M61V)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 2D
GUncertain significance
SEPSECS
(Y334H)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 2D
GUncertain significance
SEPSECS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SEPSECS
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
SEPSECS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SEPSECS
(C431G)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
SEPSECS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SEPSECS
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
SEPSECS
(S307G)
Single nucleotide variant
(missense variant)
SEPSECS-related condition
+2 more
GLikely benign
SEPSECS
Single nucleotide variant
(intron variant)
Pontocerebellar hypoplasia type 2D
+2 more
GConflicting classifications of pathogenicity
SEPSECS
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 2D
+2 more
GBenign/Likely benign
SEPSECS
(R97*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
SEPSECS
(H425R)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 2D
GUncertain significance
CLN5
(C70R)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 2D
+1 more
GConflicting classifications of pathogenicity
SEPSECS
(R465*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GConflicting classifications of pathogenicity
SEPSECS
(G256*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic/Likely pathogenic
SEPSECS
(G130D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SEPSECS
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
SEPSECS
(Y164C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SEPSECS
(G195D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SEPSECS
Single nucleotide variant
(splice acceptor variant)
not provided
GConflicting classifications of pathogenicity
SEPSECS
(R341K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SEPSECS
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SEPSECS
Single nucleotide variant
(intron variant)
Congenital cerebellar hypoplasia
+7 more
GLikely pathogenic
SEPSECS
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
SEPSECS
(T426A)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SEPSECS
Single nucleotide variant
(3 prime UTR variant)
Pontocerebellar hypoplasia type 2D
GUncertain significance
SEPSECS
Single nucleotide variant
(3 prime UTR variant)
Pontocerebellar hypoplasia type 2D
GUncertain significance
SEPSECS
Single nucleotide variant
(3 prime UTR variant)
Pontocerebellar hypoplasia type 2D
GUncertain significance
SEPSECS
Single nucleotide variant
(3 prime UTR variant)
Pontocerebellar hypoplasia type 2D
GUncertain significance
SEPSECS
Single nucleotide variant
(3 prime UTR variant)
Pontocerebellar hypoplasia type 2D
GUncertain significance
SEPSECS
Single nucleotide variant
(3 prime UTR variant)
Pontocerebellar hypoplasia type 2D
GBenign
SEPSECS
Single nucleotide variant
(3 prime UTR variant)
Pontocerebellar hypoplasia type 2D
GLikely benign
SEPSECS
Single nucleotide variant
(3 prime UTR variant)
Pontocerebellar hypoplasia type 2D
GUncertain significance
SEPSECS
Single nucleotide variant
(3 prime UTR variant)
Pontocerebellar hypoplasia type 2D
GUncertain significance
SEPSECS
Single nucleotide variant
(3 prime UTR variant)
Pontocerebellar hypoplasia type 2D
GUncertain significance
SEPSECS
Single nucleotide variant
(3 prime UTR variant)
Pontocerebellar hypoplasia type 2D
GLikely benign
SEPSECS
Single nucleotide variant
(3 prime UTR variant)
Pontocerebellar hypoplasia type 2D
GBenign
SEPSECS
Single nucleotide variant
(3 prime UTR variant)
Pontocerebellar hypoplasia type 2D
GBenign
SEPSECS
Single nucleotide variant
(3 prime UTR variant)
Pontocerebellar hypoplasia type 2D
GLikely benign
SEPSECS
Single nucleotide variant
(3 prime UTR variant)
Pontocerebellar hypoplasia type 2D
GUncertain significance
SEPSECS
Single nucleotide variant
(3 prime UTR variant)
Pontocerebellar hypoplasia type 2D
GUncertain significance
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