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Links from MedGen

Items: 1 to 100 of 2596

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EVC2
(P71fs)
Duplication
(frameshift variant +1 more)
Ellis-van Creveld syndrome
GLikely pathogenic
EVC2
(E583* +1 more)
Single nucleotide variant
(nonsense)
Ellis-van Creveld syndrome
GPathogenic
EVC2
(E917* +1 more)
Single nucleotide variant
(nonsense)
Ellis-van Creveld syndrome
GPathogenic
EVC
(G411E)
Single nucleotide variant
(missense variant)
Curry-Hall syndrome
+1 more
GUncertain significance
EVC
Single nucleotide variant
(synonymous variant)
Curry-Hall syndrome
+1 more
GLikely benign
EVC, EVC2
Deletion
Curry-Hall syndrome
+1 more
GPathogenic
EVC
Deletion
Ellis-van Creveld syndrome
+1 more
GLikely pathogenic
EVC
Deletion
Curry-Hall syndrome
+1 more
GPathogenic
EVC
Deletion
Curry-Hall syndrome
+1 more
GPathogenic
EVC
Deletion
Curry-Hall syndrome
+1 more
GPathogenic
EVC2
Deletion
Curry-Hall syndrome
+1 more
GLikely pathogenic
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
GPathogenic
EVC2
Deletion
(splice donor variant)
Curry-Hall syndrome
+1 more
GLikely pathogenic
EVC
Single nucleotide variant
(synonymous variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC2
(K1199E +1 more)
Single nucleotide variant
(missense variant)
Curry-Hall syndrome
+1 more
GUncertain significance
EVC2
(S524L +1 more)
Single nucleotide variant
(missense variant)
Curry-Hall syndrome
+1 more
GUncertain significance
EVC2
Single nucleotide variant
(intron variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC
Single nucleotide variant
(synonymous variant)
Curry-Hall syndrome
+1 more
GLikely benign
EVC2
(A743T +1 more)
Single nucleotide variant
(missense variant)
Curry-Hall syndrome
+1 more
GUncertain significance
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
EVC2
(L902fs +1 more)
Microsatellite
(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
(5 prime UTR variant +1 more)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC2
Single nucleotide variant
(synonymous variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC2
(E206K +1 more)
Single nucleotide variant
(missense variant)
Ellis-van Creveld syndrome
+1 more
GUncertain significance
EVC
Single nucleotide variant
(intron variant)
EVC-related condition
+2 more
GConflicting classifications of pathogenicity
EVC
Single nucleotide variant
(splice donor variant)
Ellis-van Creveld syndrome
+1 more
GLikely pathogenic
EVC
(I237fs)
Duplication
(frameshift variant)
Ellis-van Creveld syndrome
+1 more
GPathogenic
EVC
(Q63fs)
Deletion
(frameshift variant)
Ellis-van Creveld syndrome
+1 more
GPathogenic
EVC2
(E789* +1 more)
Single nucleotide variant
(nonsense)
Ellis-van Creveld syndrome
+1 more
GPathogenic
EVC
(R632W)
Single nucleotide variant
(missense variant)
Ellis-van Creveld syndrome
+1 more
GUncertain significance
EVC2
(A706S +1 more)
Single nucleotide variant
(missense variant)
Ellis-van Creveld syndrome
+1 more
GUncertain significance
EVC2
(V529M +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
GUncertain significance
EVC2
Single nucleotide variant
(intron variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC2
(R1185W +1 more)
Single nucleotide variant
(missense variant)
Ellis-van Creveld syndrome
+1 more
GUncertain significance
EVC
(R647W)
Single nucleotide variant
(missense variant)
Ellis-van Creveld syndrome
+1 more
GUncertain significance
EVC2
(D216N +1 more)
Single nucleotide variant
(missense variant)
Ellis-van Creveld syndrome
+1 more
GUncertain significance
EVC2
(V896M +1 more)
Single nucleotide variant
(missense variant)
Ellis-van Creveld syndrome
+1 more
GUncertain significance
EVC2
(E1202D +1 more)
Single nucleotide variant
(missense variant)
Ellis-van Creveld syndrome
+1 more
GUncertain significance
EVC
Single nucleotide variant
(intron variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC
(R873C)
Single nucleotide variant
(missense variant)
Ellis-van Creveld syndrome
+1 more
GUncertain significance
EVC2
(R831W +1 more)
Single nucleotide variant
(missense variant)
Ellis-van Creveld syndrome
+1 more
GUncertain significance
EVC
(T615N)
Single nucleotide variant
(missense variant)
Ellis-van Creveld syndrome
+1 more
GUncertain significance
EVC2
Single nucleotide variant
(intron variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC
(N833D)
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
(R52C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
EVC2
Single nucleotide variant
(synonymous variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC2
(V1178L +1 more)
Single nucleotide variant
(missense variant)
Ellis-van Creveld syndrome
+1 more
GUncertain significance
EVC
Single nucleotide variant
(intron variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC2
(I66V +1 more)
Single nucleotide variant
(missense variant)
Ellis-van Creveld syndrome
+1 more
GUncertain significance
EVC
(E507G)
Single nucleotide variant
(missense variant)
Curry-Hall syndrome
+1 more
GUncertain significance
EVC2
(I465T +1 more)
Single nucleotide variant
(missense variant)
Curry-Hall syndrome
+1 more
GUncertain significance
EVC
(R702H)
Single nucleotide variant
(missense variant)
Curry-Hall syndrome
+1 more
GUncertain significance
EVC
(A747V)
Single nucleotide variant
(missense variant)
Curry-Hall syndrome
+1 more
GUncertain significance
EVC2
(G27A)
Single nucleotide variant
(missense variant +1 more)
Curry-Hall syndrome
+1 more
GUncertain significance
EVC
(G842D)
Single nucleotide variant
(missense variant)
Curry-Hall syndrome
+2 more
GUncertain significance
EVC
Single nucleotide variant
(synonymous variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC2
(G793R +1 more)
Single nucleotide variant
(missense variant)
Ellis-van Creveld syndrome
+1 more
GUncertain significance
EVC
(V790M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
EVC
Single nucleotide variant
(synonymous variant)
Curry-Hall syndrome
+1 more
GLikely benign
EVC
(R435H)
Single nucleotide variant
(missense variant)
Ellis-van Creveld 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, LOC126806961
(T307A +1 more)
Single nucleotide variant
(missense variant)
Curry-Hall syndrome
+1 more
GUncertain significance
EVC2
(Q822H +1 more)
Single nucleotide variant
(missense variant)
Curry-Hall syndrome
+1 more
GUncertain significance
EVC
Single nucleotide variant
(intron variant)
Curry-Hall syndrome
+1 more
GLikely benign
EVC2
(R149C +1 more)
Single nucleotide variant
(missense variant)
Curry-Hall syndrome
+1 more
GUncertain significance
EVC
(S177fs)
Deletion
(frameshift variant)
Curry-Hall syndrome
+1 more
GPathogenic
EVC
(G275R)
Single nucleotide variant
(missense variant)
Curry-Hall syndrome
+1 more
GUncertain significance
EVC2
(A630T +1 more)
Single nucleotide variant
(missense variant)
Curry-Hall syndrome
+1 more
GUncertain significance
EVC2
(S459I +1 more)
Single nucleotide variant
(missense variant)
Curry-Hall syndrome
+1 more
GUncertain significance
EVC
(H233P)
Single nucleotide variant
(missense variant)
Curry-Hall syndrome
+2 more
GUncertain significance
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
(G254R +1 more)
Single nucleotide variant
(missense variant)
Ellis-van Creveld syndrome
+1 more
GUncertain significance
EVC
Single nucleotide variant
(intron variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC2
Single nucleotide variant
(synonymous variant)
Curry-Hall syndrome
+1 more
GLikely benign
EVC
Single nucleotide variant
(intron variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC
Single nucleotide variant
(synonymous variant)
Curry-Hall syndrome
+1 more
GLikely benign
EVC
(M234V)
Single nucleotide variant
(missense variant)
Ellis-van Creveld syndrome
+1 more
GUncertain significance
EVC2
(V1102L +1 more)
Single nucleotide variant
(missense variant)
Ellis-van Creveld syndrome
+1 more
GUncertain significance
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
(W693*)
Single nucleotide variant
(nonsense)
Ellis-van Creveld syndrome
+1 more
GPathogenic
EVC2
Single nucleotide variant
(synonymous variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC2
(L505P +1 more)
Single nucleotide variant
(missense variant)
Curry-Hall syndrome
+1 more
GUncertain significance
EVC
(D953E)
Single nucleotide variant
(missense variant)
Curry-Hall syndrome
+1 more
GUncertain significance
EVC2
Single nucleotide variant
(synonymous variant +1 more)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC
Indel
(intron variant)
Ellis-van Creveld syndrome
+1 more
GUncertain significance
EVC2, LOC126806962
Single nucleotide variant
(synonymous variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC
Single nucleotide variant
(intron variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC2, LOC126806961
(E360V +1 more)
Single nucleotide variant
(missense variant)
Curry-Hall syndrome
+1 more
GUncertain significance
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