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Links from MedGen

Items: 1 to 100 of 660

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ELP1
(G202E +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial dysautonomia
GUncertain significance
ELP1
(K245* +2 more)
Single nucleotide variant
(nonsense)
Familial dysautonomia
GLikely pathogenic
ELP1
(Y22* +2 more)
Single nucleotide variant
(nonsense)
Familial dysautonomia
GLikely pathogenic
ELP1
(N157fs +1 more)
Deletion
(frameshift variant +1 more)
Familial dysautonomia
GLikely pathogenic
ELP1
(E1106fs +2 more)
Insertion
(frameshift variant)
Familial dysautonomia
GLikely pathogenic
ELP1
(L303* +2 more)
Single nucleotide variant
(nonsense)
Familial dysautonomia
GLikely pathogenic
ELP1
(F551fs +2 more)
Insertion
(frameshift variant)
Familial dysautonomia
GLikely pathogenic
ELP1
(N690fs +2 more)
Deletion
(frameshift variant)
Familial dysautonomia
GLikely pathogenic
ELP1
(K229* +1 more)
Single nucleotide variant
(nonsense +1 more)
Familial dysautonomia
GLikely pathogenic
ELP1
(L506fs +2 more)
Deletion
(frameshift variant)
Familial dysautonomia
GLikely pathogenic
ELP1
(M578fs +2 more)
Deletion
(frameshift variant)
Familial dysautonomia
GLikely pathogenic
ELP1
(M1007fs +2 more)
Deletion
(frameshift variant)
Familial dysautonomia
GLikely pathogenic
ELP1
(V477fs +2 more)
Duplication
(frameshift variant)
Familial dysautonomia
GLikely pathogenic
ELP1
(L1126* +2 more)
Single nucleotide variant
(nonsense)
Familial dysautonomia
GLikely pathogenic
ELP1
(V1058fs +2 more)
Indel
(frameshift variant)
Familial dysautonomia
GLikely pathogenic
ELP1
(C84fs)
Microsatellite
(5 prime UTR variant +1 more)
Familial dysautonomia
+1 more
GPathogenic/Likely pathogenic
ELP1
(A296fs +2 more)
Deletion
(frameshift variant)
Familial dysautonomia
GLikely pathogenic
ELP1
(D192fs +1 more)
Deletion
(frameshift variant +1 more)
Familial dysautonomia
GLikely pathogenic
ELP1
(Y622fs +2 more)
Indel
(frameshift variant)
Familial dysautonomia
GLikely pathogenic
ELP1
(Q562fs +2 more)
Microsatellite
(frameshift variant)
Familial dysautonomia
GLikely pathogenic
ELP1
(K412* +2 more)
Single nucleotide variant
(nonsense)
Familial dysautonomia
GLikely pathogenic
ELP1
(V287fs +2 more)
Deletion
(frameshift variant)
Familial dysautonomia
GLikely pathogenic
ELP1
(C213* +1 more)
Single nucleotide variant
(nonsense +1 more)
Familial dysautonomia
GLikely pathogenic
ELP1
(S1056fs +2 more)
Deletion
(frameshift variant)
Familial dysautonomia
GLikely pathogenic
ELP1
(G1066fs +2 more)
Indel
(frameshift variant)
Familial dysautonomia
GLikely pathogenic
ELP1
(T1024fs +2 more)
Deletion
(frameshift variant)
Familial dysautonomia
GLikely pathogenic
ELP1
(Q177* +1 more)
Single nucleotide variant
(nonsense +1 more)
Familial dysautonomia
GLikely pathogenic
ELP1
(Q1074fs +2 more)
Deletion
(frameshift variant)
Familial dysautonomia
GLikely pathogenic
ELP1
(E526fs +2 more)
Deletion
(frameshift variant)
Familial dysautonomia
GLikely pathogenic
ELP1
(H544fs +2 more)
Deletion
(frameshift variant)
Familial dysautonomia
GLikely pathogenic
ELP1
(Q583fs +2 more)
Deletion
(frameshift variant)
Familial dysautonomia
GLikely pathogenic
ELP1
(E1116fs +2 more)
Deletion
(frameshift variant)
Familial dysautonomia
GLikely pathogenic
ELP1
(K166* +1 more)
Single nucleotide variant
(nonsense +1 more)
Familial dysautonomia
GLikely pathogenic
ELP1
(R284fs +2 more)
Deletion
(frameshift variant)
Familial dysautonomia
GLikely pathogenic
ELP1
(Q513* +2 more)
Single nucleotide variant
(nonsense)
Familial dysautonomia
GLikely pathogenic
ELP1
(I616fs +2 more)
Deletion
(frameshift variant)
Familial dysautonomia
GLikely pathogenic
ELP1
(E191fs +2 more)
Insertion
(frameshift variant)
Familial dysautonomia
GLikely pathogenic
ELP1
(L263* +2 more)
Single nucleotide variant
(nonsense)
Familial dysautonomia
GLikely pathogenic
ELP1
(E1095fs +2 more)
Deletion
(frameshift variant)
Familial dysautonomia
GLikely pathogenic
ELP1
(F124fs +2 more)
Deletion
(frameshift variant)
Familial dysautonomia
GLikely pathogenic
ELP1
(Y214* +1 more)
Single nucleotide variant
(nonsense +1 more)
Familial dysautonomia
GLikely pathogenic
ELP1
(E607fs +2 more)
Deletion
(frameshift variant)
Familial dysautonomia
GLikely pathogenic
ELP1
(M115fs +1 more)
Deletion
(frameshift variant +2 more)
Familial dysautonomia
GLikely pathogenic
ELP1
Indel
(nonsense +1 more)
Familial dysautonomia
GLikely pathogenic
ELP1
(E1054* +2 more)
Single nucleotide variant
(nonsense)
Familial dysautonomia
GLikely pathogenic
ELP1
(W180* +1 more)
Single nucleotide variant
(nonsense +1 more)
Inborn genetic diseases
+1 more
GPathogenic/Likely pathogenic
ELP1
(L628* +2 more)
Single nucleotide variant
(nonsense)
Familial dysautonomia
GLikely pathogenic
ELP1
Single nucleotide variant
(splice donor variant +1 more)
Familial dysautonomia
GLikely pathogenic
ELP1
Deletion
Familial dysautonomia
GPathogenic
ELP1
Single nucleotide variant
(intron variant)
Medulloblastoma
+2 more
GBenign/Likely benign
ELP1
Single nucleotide variant
(intron variant)
Medulloblastoma
+2 more
GLikely benign
ELP1
Single nucleotide variant
(intron variant)
Familial dysautonomia
+2 more
GLikely benign
ELP1
Indel
(intron variant)
Familial dysautonomia
+2 more
GLikely benign
ELP1
Single nucleotide variant
(synonymous variant)
Familial dysautonomia
+2 more
GLikely benign
ELP1
Single nucleotide variant
(intron variant)
Medulloblastoma
+2 more
GLikely benign
ELP1
Single nucleotide variant
(intron variant)
Familial dysautonomia
+2 more
GLikely benign
ELP1
(G48R +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial dysautonomia
+3 more
GUncertain significance
ELP1
(H39R)
Single nucleotide variant
(5 prime UTR variant +1 more)
Medulloblastoma
+3 more
GUncertain significance
ELP1
(Y864H +2 more)
Single nucleotide variant
(missense variant)
Medulloblastoma
+2 more
GUncertain significance
ELP1
(F895S +2 more)
Single nucleotide variant
(missense variant)
Medulloblastoma
+2 more
GUncertain significance
ELP1
(S40F +2 more)
Single nucleotide variant
(missense variant)
Medulloblastoma
+3 more
GUncertain significance
ELP1
(I1063T +2 more)
Single nucleotide variant
(missense variant)
Familial dysautonomia
+2 more
GUncertain significance
ELP1
Single nucleotide variant
(splice acceptor variant)
Medulloblastoma
+2 more
GPathogenic/Likely pathogenic
ELP1
(K1085* +2 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
ELP1
Deletion
(intron variant)
Medulloblastoma
+2 more
GLikely benign
ELP1
(D426fs +2 more)
Microsatellite
(frameshift variant)
Medulloblastoma
+3 more
GPathogenic/Likely pathogenic
ELP1
Single nucleotide variant
(synonymous variant)
Medulloblastoma
+2 more
GConflicting classifications of pathogenicity
ELP1
(E1115* +2 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
ELP1
(C550R +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ELP1
(K832R +2 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
ELP1
(Y328S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
ELP1
(T779fs +2 more)
Deletion
(frameshift variant)
Familial dysautonomia
+2 more
GPathogenic/Likely pathogenic
ELP1
(N1108D +2 more)
Single nucleotide variant
(missense variant)
Familial dysautonomia
GUncertain significance
ELP1
(E29K)
Single nucleotide variant
(5 prime UTR variant +2 more)
Medulloblastoma
+1 more
GUncertain significance
ELP1
(M1183V +2 more)
Single nucleotide variant
(missense variant)
Medulloblastoma
+2 more
GUncertain significance
ELP1
(K1205fs +2 more)
Deletion
(frameshift variant)
Familial dysautonomia
GLikely pathogenic
ELP1
(T137K +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GUncertain significance
ELP1
Single nucleotide variant
(intron variant)
Medulloblastoma
+2 more
GLikely benign
ELP1
(L138W +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial dysautonomia
GUncertain significance
ELP1
(E262K +2 more)
Single nucleotide variant
(missense variant)
Familial dysautonomia
+1 more
GUncertain significance
ELP1
(R1084P +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ELP1
Single nucleotide variant
(intron variant)
Familial dysautonomia
+1 more
GBenign
ELP1
Single nucleotide variant
(synonymous variant)
Medulloblastoma
+2 more
GLikely benign
ELP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ELP1
Single nucleotide variant
(synonymous variant)
Familial dysautonomia
+2 more
GLikely benign
ELP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ELP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ELP1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
ELP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ELP1
Single nucleotide variant
(intron variant)
Medulloblastoma
+2 more
GLikely benign
ELP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ELP1
Single nucleotide variant
(synonymous variant)
Familial dysautonomia
+2 more
GLikely benign
ELP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ELP1
Single nucleotide variant
(synonymous variant)
Familial dysautonomia
+2 more
GLikely benign
ELP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ELP1
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GLikely benign
ELP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ELP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ELP1
(W191* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
ELP1
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
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