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Links from MedGen

Items: 1 to 100 of 3374

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EVC
Deletion
Curry-Hall syndrome
+1 more
GLikely pathogenic
EVC
Deletion
Curry-Hall syndrome
+1 more
GLikely pathogenic
EVC
Deletion
Curry-Hall syndrome
+1 more
GPathogenic
EVC
Deletion
Curry-Hall syndrome
+1 more
GLikely pathogenic
EVC
Deletion
Curry-Hall syndrome
+1 more
GPathogenic
EVC2, EVC
Deletion
Curry-Hall syndrome
+1 more
GPathogenic
EVC, EVC2
Deletion
Curry-Hall syndrome
+1 more
GPathogenic
EVC, EVC2
Deletion
Curry-Hall syndrome
+1 more
GPathogenic
EVC2, LINC01587
+1 more
Deletion
Curry-Hall syndrome
+1 more
GPathogenic
EVC2
Deletion
Curry-Hall syndrome
+1 more
GLikely pathogenic
EVC2
Deletion
Curry-Hall syndrome
+1 more
GLikely pathogenic
EVC, EVC2
Duplication
Curry-Hall syndrome
+1 more
GUncertain significance
EVC2
Deletion
Curry-Hall syndrome
+1 more
GPathogenic
EVC2
Deletion
Curry-Hall syndrome
+1 more
GPathogenic
EVC2
Deletion
Curry-Hall syndrome
+1 more
GPathogenic
EVC2
Deletion
Curry-Hall syndrome
+1 more
GPathogenic
EVC2
Deletion
Curry-Hall syndrome
+1 more
GPathogenic
EVC, EVC2
Deletion
Curry-Hall syndrome
+1 more
GPathogenic
EVC2
Deletion
Curry-Hall syndrome
+1 more
GUncertain significance
EVC2
Deletion
Curry-Hall syndrome
+1 more
GUncertain significance
EVC2
Deletion
Curry-Hall syndrome
+1 more
GPathogenic
EVC2
Deletion
Curry-Hall 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)
Curry-Hall syndrome
+1 more
GLikely benign
EVC2
Single nucleotide variant
(intron variant)
Curry-Hall syndrome
+1 more
GLikely benign
EVC2
Single nucleotide variant
(synonymous variant)
Curry-Hall syndrome
+1 more
GLikely benign
EVC2
Single nucleotide variant
(synonymous variant)
Curry-Hall syndrome
+1 more
GLikely benign
EVC
Duplication
(intron variant)
Curry-Hall syndrome
+1 more
GLikely benign
EVC2
Single nucleotide variant
(synonymous variant)
Curry-Hall syndrome
+1 more
GLikely benign
EVC2
Single nucleotide variant
(intron variant)
Curry-Hall syndrome
+1 more
GLikely benign
EVC2
Single nucleotide variant
(intron variant)
Curry-Hall 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)
Curry-Hall syndrome
+1 more
GLikely benign
EVC
(S81fs)
Duplication
(frameshift variant)
Curry-Hall syndrome
+1 more
GPathogenic
EVC2, LOC126806961
Single nucleotide variant
(synonymous variant)
Curry-Hall syndrome
+1 more
GLikely benign
EVC2
(T567fs +1 more)
Deletion
(frameshift variant)
Curry-Hall syndrome
+1 more
GPathogenic
EVC2
Single nucleotide variant
(intron variant)
Curry-Hall syndrome
+1 more
GLikely benign
EVC
(E488*)
Single nucleotide variant
(nonsense)
Curry-Hall syndrome
+1 more
GPathogenic
EVC
Single nucleotide variant
(synonymous variant)
Curry-Hall syndrome
+1 more
GLikely benign
EVC2
Single nucleotide variant
(intron variant)
Curry-Hall syndrome
+1 more
GLikely benign
EVC2, LOC126806961
Single nucleotide variant
(intron variant)
Curry-Hall syndrome
+1 more
GLikely benign
EVC
(R375fs)
Duplication
(frameshift variant)
Curry-Hall syndrome
+1 more
GPathogenic
EVC
Single nucleotide variant
(synonymous variant)
Curry-Hall syndrome
+1 more
GLikely benign
EVC
Single nucleotide variant
(intron variant)
Curry-Hall syndrome
+1 more
GLikely benign
EVC
Single nucleotide variant
(synonymous variant)
Curry-Hall syndrome
+1 more
GLikely benign
EVC
Single nucleotide variant
(synonymous variant)
Curry-Hall syndrome
+1 more
GLikely benign
EVC
Single nucleotide variant
(synonymous variant)
Curry-Hall syndrome
+1 more
GLikely benign
EVC2
(R796fs +1 more)
Microsatellite
(frameshift variant)
Curry-Hall syndrome
+1 more
GPathogenic
EVC2
Single nucleotide variant
(synonymous variant)
Curry-Hall syndrome
+1 more
GLikely benign
EVC2
Single nucleotide variant
(synonymous variant)
Curry-Hall syndrome
+1 more
GLikely benign
EVC
Single nucleotide variant
(intron variant)
Curry-Hall syndrome
+1 more
GLikely benign
EVC2, LOC126806961
(E365fs +1 more)
Deletion
(frameshift variant)
Curry-Hall syndrome
+1 more
GPathogenic
EVC2
Single nucleotide variant
(synonymous variant)
Curry-Hall syndrome
+1 more
GLikely benign
EVC2
Single nucleotide variant
(synonymous variant)
Curry-Hall syndrome
+1 more
GLikely benign
EVC
Single nucleotide variant
(synonymous variant)
Curry-Hall syndrome
+1 more
GLikely benign
EVC2
Single nucleotide variant
(synonymous variant)
Curry-Hall syndrome
+1 more
GLikely benign
EVC
Single nucleotide variant
(synonymous variant)
Curry-Hall syndrome
+1 more
GLikely benign
EVC
Single nucleotide variant
(synonymous variant)
Curry-Hall syndrome
+1 more
GLikely benign
EVC
Single nucleotide variant
(intron variant)
Curry-Hall syndrome
+1 more
GLikely benign
EVC
Single nucleotide variant
(synonymous variant)
Curry-Hall syndrome
+1 more
GLikely benign
EVC
Single nucleotide variant
(intron variant)
Curry-Hall syndrome
+1 more
GLikely benign
EVC2, LOC126806961
(L388fs +1 more)
Deletion
(frameshift variant)
Curry-Hall syndrome
+1 more
GPathogenic
EVC2
(E698fs +1 more)
Deletion
(frameshift variant)
Ellis-van Creveld syndrome
+1 more
GPathogenic
EVC2
Single nucleotide variant
(intron variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC2
(Q603fs +1 more)
Deletion
(frameshift variant)
Ellis-van Creveld syndrome
+1 more
GPathogenic
EVC2
Single nucleotide variant
(synonymous variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC2
(I489fs +1 more)
Deletion
(frameshift variant)
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
(synonymous 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
EVC2
(R1126K +1 more)
Single nucleotide variant
(missense variant)
Ellis-van Creveld syndrome
+1 more
GUncertain significance
EVC2, LOC126806961
Single nucleotide variant
(synonymous variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC
(R697fs)
Deletion
(frameshift variant)
Ellis-van Creveld syndrome
+1 more
GPathogenic
EVC2
(K25fs +1 more)
Deletion
(frameshift variant)
Ellis-van Creveld syndrome
+1 more
GPathogenic
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
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