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Links from MedGen

Items: 1 to 100 of 3417

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EVC
(L964fs)
Duplication
(frameshift variant)
Curry-Hall syndrome
+1 more
GLikely pathogenic
EVC
(E899*)
Single nucleotide variant
(nonsense)
Curry-Hall syndrome
+1 more
GLikely pathogenic
EVC
(Q715fs)
Microsatellite
(frameshift variant)
Curry-Hall syndrome
+1 more
GLikely pathogenic
EVC
(Q661*)
Single nucleotide variant
(nonsense)
Curry-Hall syndrome
+1 more
GLikely pathogenic
EVC
Deletion
Curry-Hall syndrome
+1 more
GLikely pathogenic
EVC
Microsatellite
(nonsense)
Curry-Hall syndrome
+1 more
GLikely pathogenic
EVC
Single nucleotide variant
(intron variant)
Curry-Hall syndrome
+1 more
GLikely pathogenic
EVC
(E362fs)
Deletion
(frameshift variant)
Curry-Hall syndrome
+1 more
GLikely pathogenic
EVC
Single nucleotide variant
(splice acceptor variant)
Curry-Hall syndrome
+1 more
GLikely pathogenic
EVC
(N196*)
Insertion
(nonsense)
Curry-Hall syndrome
+1 more
GLikely pathogenic
EVC
Single nucleotide variant
(splice donor variant)
Curry-Hall syndrome
+1 more
GLikely pathogenic
EVC
(Q74*)
Single nucleotide variant
(nonsense)
Curry-Hall syndrome
+1 more
GLikely pathogenic
EVC
(A31fs)
Insertion
(frameshift variant)
Curry-Hall syndrome
+1 more
GLikely pathogenic
EVC, LOC129992144
(A6fs)
Duplication
(frameshift variant +1 more)
Curry-Hall syndrome
+1 more
GLikely pathogenic
EVC2
(M1I)
Single nucleotide variant
(missense variant +2 more)
Curry-Hall syndrome
+1 more
GLikely pathogenic
EVC2
(W12*)
Single nucleotide variant
(nonsense +1 more)
Curry-Hall syndrome
+1 more
GLikely pathogenic
EVC2
Single nucleotide variant
(intron variant +1 more)
Curry-Hall syndrome
+1 more
GLikely pathogenic
EVC2
(A129fs +1 more)
Deletion
(frameshift variant)
Curry-Hall syndrome
+1 more
GLikely pathogenic
EVC2
(E77* +1 more)
Single nucleotide variant
(nonsense)
Curry-Hall syndrome
+1 more
GLikely pathogenic
EVC2
(W106* +1 more)
Single nucleotide variant
(nonsense)
Curry-Hall syndrome
+1 more
GLikely pathogenic
EVC2
Single nucleotide variant
(splice donor variant)
Curry-Hall syndrome
+1 more
GLikely pathogenic
EVC2
Single nucleotide variant
(splice donor variant)
Curry-Hall syndrome
+1 more
GLikely pathogenic
EVC2, LOC126806961
(S336fs +1 more)
Deletion
(frameshift variant)
Curry-Hall syndrome
+1 more
GLikely pathogenic
EVC2, LOC126806961
(H419fs +1 more)
Duplication
(frameshift variant)
Curry-Hall syndrome
+1 more
GLikely pathogenic
EVC2
(E508* +1 more)
Single nucleotide variant
(nonsense)
Curry-Hall syndrome
+1 more
GLikely pathogenic
EVC2
(F532fs +1 more)
Deletion
(frameshift variant)
Curry-Hall syndrome
+1 more
GLikely pathogenic
EVC2
(Q694* +1 more)
Single nucleotide variant
(nonsense)
Curry-Hall syndrome
+1 more
GLikely pathogenic
EVC2
(Q804fs +1 more)
Deletion
(frameshift variant)
Curry-Hall syndrome
+1 more
GLikely pathogenic
EVC2
Single nucleotide variant
(splice donor variant)
Curry-Hall syndrome
+1 more
GLikely pathogenic
EVC2
(E886K +1 more)
Single nucleotide variant
(missense variant)
Curry-Hall syndrome
+1 more
GUncertain significance
EVC2
Single nucleotide variant
(splice acceptor variant)
Curry-Hall syndrome
+1 more
GLikely pathogenic
EVC2
(Q904* +1 more)
Single nucleotide variant
(nonsense)
Curry-Hall syndrome
+1 more
GPathogenic
EVC2
(S983fs +1 more)
Duplication
(frameshift variant)
Curry-Hall syndrome
+1 more
GLikely pathogenic
EVC2
(A907fs +1 more)
Deletion
(frameshift variant)
Curry-Hall syndrome
+1 more
GLikely pathogenic
EVC2
(Q992* +1 more)
Single nucleotide variant
(nonsense)
Curry-Hall syndrome
+1 more
GLikely pathogenic
EVC2
(Q1016* +1 more)
Single nucleotide variant
(nonsense)
Curry-Hall syndrome
+1 more
GLikely pathogenic
EVC2
(Q530* +1 more)
Single nucleotide variant
(nonsense)
Ellis-van Creveld syndrome
GPathogenic
EVC2
Single nucleotide variant
(splice acceptor variant)
Ellis-van Creveld syndrome
GLikely pathogenic
EVC2
(F500fs +1 more)
Deletion
(frameshift variant)
Ellis-van Creveld syndrome
GPathogenic
EVC2
(E709fs +1 more)
Deletion
(frameshift variant)
Ellis-van Creveld syndrome
+1 more
GLikely pathogenic
EVC2
(E699* +1 more)
Single nucleotide variant
(nonsense)
Ellis-van Creveld syndrome
GPathogenic
EVC2
(A667fs +1 more)
Deletion
(frameshift variant)
Ellis-van Creveld syndrome
GLikely pathogenic
EVC2
(H458Y +1 more)
Single nucleotide variant
(missense variant)
Ellis-van Creveld syndrome
GUncertain significance
EVC
Deletion
Ellis-van Creveld syndrome
+1 more
GLikely pathogenic
EVC
Deletion
Ellis-van Creveld syndrome
+1 more
GLikely pathogenic
EVC
Deletion
Ellis-van Creveld syndrome
+1 more
GPathogenic
EVC
Deletion
Ellis-van Creveld syndrome
+1 more
GLikely pathogenic
EVC
Deletion
Ellis-van Creveld syndrome
+1 more
GPathogenic
EVC, EVC2
Deletion
Ellis-van Creveld syndrome
+1 more
GPathogenic
EVC, EVC2
Deletion
Ellis-van Creveld syndrome
+1 more
GPathogenic
EVC, EVC2
Deletion
Ellis-van Creveld syndrome
+1 more
GPathogenic
EVC2, LINC01587
+1 more
Deletion
Ellis-van Creveld syndrome
+1 more
GPathogenic
EVC2
Deletion
Ellis-van Creveld syndrome
+1 more
GLikely pathogenic
EVC2
Deletion
Ellis-van Creveld syndrome
+1 more
GLikely pathogenic
EVC, EVC2
Duplication
Ellis-van Creveld syndrome
+1 more
GUncertain significance
EVC2
Deletion
Ellis-van Creveld syndrome
+1 more
GPathogenic
EVC2
Deletion
Ellis-van Creveld syndrome
+1 more
GPathogenic
EVC2
Deletion
Ellis-van Creveld syndrome
+1 more
GPathogenic
EVC2
Deletion
Ellis-van Creveld syndrome
+1 more
GPathogenic
EVC2
Deletion
Ellis-van Creveld syndrome
+1 more
GPathogenic
EVC, EVC2
Deletion
Ellis-van Creveld syndrome
+1 more
GPathogenic
EVC2
Deletion
Ellis-van Creveld syndrome
+1 more
GUncertain significance
EVC2
Deletion
Ellis-van Creveld syndrome
+1 more
GUncertain significance
EVC2
Deletion
Ellis-van Creveld syndrome
+1 more
GPathogenic
EVC2
Deletion
Ellis-van Creveld syndrome
+1 more
GPathogenic
EVC
(Q455*)
Single nucleotide variant
(nonsense)
Ellis-van Creveld syndrome
GLikely pathogenic
EVC
(D268fs)
Deletion
(frameshift variant)
Ellis-van Creveld syndrome
GLikely pathogenic
EVC2
Single nucleotide variant
(synonymous variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC
Single nucleotide variant
(splice donor variant)
Ellis-van Creveld syndrome
+1 more
GLikely pathogenic
EVC2
Single nucleotide variant
(synonymous variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC
(Q320*)
Single nucleotide variant
(nonsense)
Ellis-van Creveld syndrome
+1 more
GPathogenic
EVC2
(N361fs +1 more)
Deletion
(frameshift variant)
Ellis-van Creveld syndrome
+1 more
GPathogenic
EVC2
Insertion
(intron variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC2
Single nucleotide variant
(synonymous variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC2
(A530fs +1 more)
Microsatellite
(frameshift variant)
Ellis-van Creveld syndrome
+1 more
GPathogenic
EVC2, LOC126806961
Single nucleotide variant
(splice acceptor variant)
Ellis-van Creveld syndrome
+1 more
GLikely pathogenic
EVC
Single nucleotide variant
(splice donor variant)
Ellis-van Creveld syndrome
+1 more
GLikely pathogenic
EVC
(Y214*)
Duplication
(nonsense)
Ellis-van Creveld syndrome
+1 more
GPathogenic
EVC2
Single nucleotide variant
(synonymous variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC
Single nucleotide variant
(synonymous variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC2
Single nucleotide variant
(splice acceptor variant)
Ellis-van Creveld syndrome
+1 more
GLikely pathogenic
EVC
Single nucleotide variant
(intron variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC2
Single nucleotide variant
(intron variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC, LOC129992144
Single nucleotide variant
(synonymous variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC2
Single nucleotide variant
(intron variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC2
Single nucleotide variant
(synonymous variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC2
Single nucleotide variant
(splice donor variant)
Ellis-van Creveld syndrome
+1 more
GLikely pathogenic
EVC
(E205*)
Single nucleotide variant
(nonsense)
Ellis-van Creveld syndrome
+1 more
GPathogenic
EVC2
(Q184* +1 more)
Single nucleotide variant
(nonsense)
Ellis-van Creveld syndrome
+1 more
GPathogenic
EVC2
Single nucleotide variant
(intron variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC2
Single nucleotide variant
(intron variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC2
Single nucleotide variant
(synonymous variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC2
Single nucleotide variant
(synonymous variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC
Duplication
(intron variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC2
Single nucleotide variant
(synonymous variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC2
Single nucleotide variant
(intron variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC2
Single nucleotide variant
(intron variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC2
(I849V +1 more)
Single nucleotide variant
(missense variant)
Ellis-van Creveld syndrome
+1 more
GUncertain significance
EVC2
Single nucleotide variant
(synonymous variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC
(S81fs)
Duplication
(frameshift variant)
Ellis-van Creveld syndrome
+1 more
GPathogenic
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