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Links from MedGen

Items: 1 to 100 of 150

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NECTIN1
Single nucleotide variant
(nonsense)
Cleft lip/palate-ectodermal dysplasia syndrome
Gnot provided
NECTIN1
(R110C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NECTIN1
(R158*)
Single nucleotide variant
(nonsense)
Cleft lip/palate-ectodermal dysplasia syndrome
GLikely pathogenic
NECTIN1
Single nucleotide variant
(synonymous variant)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
(R210H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NECTIN1
(R212H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NECTIN1
(V228I)
Single nucleotide variant
(missense variant)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GLikely benign
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GLikely benign
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GLikely benign
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(5 prime UTR variant)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(synonymous variant)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
(P340Q)
Single nucleotide variant
(missense variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
(V360M)
Single nucleotide variant
(missense variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
NECTIN1
Single nucleotide variant
(synonymous variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
(G445S)
Single nucleotide variant
(missense variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
+1 more
GUncertain significance
NECTIN1
Single nucleotide variant
(synonymous variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GBenign
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GBenign
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GLikely benign
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GLikely benign
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GLikely benign
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GBenign
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(5 prime UTR variant)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(5 prime UTR variant)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(5 prime UTR variant)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
(M1I)
Single nucleotide variant
(missense variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
(W14C)
Single nucleotide variant
(missense variant)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(synonymous variant)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(synonymous variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
(G480S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
NECTIN1
(D491N)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
NECTIN1
(G507E)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GLikely benign
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GLikely benign
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
NECTIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cleft lip/palate-ectodermal dysplasia syndrome
GUncertain significance
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