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Links from MedGen

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EVC2
(Q1041* +1 more)
Single nucleotide variant
(nonsense)
Curry-Hall syndrome
+1 more
GPathogenic
NEK1
(G140R)
Single nucleotide variant
(missense variant +1 more)
Short-rib thoracic dysplasia 6 with or without polydactyly
GLikely pathogenic
EVC2
(Q570* +1 more)
Single nucleotide variant
(nonsense)
Ellis-van Creveld syndrome
+2 more
GPathogenic
TRIM59-IFT80, IFT80
(L163fs +1 more)
Deletion
(non-coding transcript variant +1 more)
Type IV short rib polydactyly syndrome
GPathogenic/Likely pathogenic
TTC21B
(L1202P)
Single nucleotide variant
(missense variant)
Type IV short rib polydactyly syndrome
+1 more
GPathogenic/Likely pathogenic
TTC21B
(F440fs)
Deletion
(frameshift variant)
Retinal dystrophy
+4 more
GPathogenic/Likely pathogenic
WDR19
(D159N)
Single nucleotide variant
(5 prime UTR variant +1 more)
Type IV short rib polydactyly syndrome
GPathogenic/Likely pathogenic
WDR19
Single nucleotide variant
(splice acceptor variant)
Asphyxiating thoracic dystrophy 5
+1 more
GLikely pathogenic
IFT80, TRIM59-IFT80
(T365A +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Jeune thoracic dystrophy
+1 more
GConflicting classifications of pathogenicity
EVC2
(R608H +1 more)
Single nucleotide variant
(missense variant)
Ellis-van Creveld syndrome
+2 more
GConflicting classifications of pathogenicity
DYNC2H1
(Y2016C)
Single nucleotide variant
(missense variant)
Jeune thoracic dystrophy
+3 more
GConflicting classifications of pathogenicity
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