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Links from MedGen

Items: 50

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD11, ABHD11-AS1
+129 more
Deletion
Williams syndrome
GPathogenic
BAZ1B, CLDN4
+25 more
Copy number loss
Williams syndrome
GPathogenic
ABHD11, ABHD11-AS1
+132 more
Deletion
Williams syndrome
GPathogenic
ABHD11, ABHD11-AS1
+131 more
Copy number loss
Williams syndrome
GPathogenic
ABHD11, ABHD11-AS1
+25 more
Copy number loss
Williams syndrome
GPathogenic
ABHD11, ABHD11-AS1
+25 more
Copy number loss
Williams syndrome
GPathogenic
ABHD11, ABHD11-AS1
+25 more
Copy number loss
Williams syndrome
GPathogenic
ABHD11, ABHD11-AS1
+25 more
Copy number loss
Williams syndrome
GPathogenic
ABHD11, ABHD11-AS1
+21 more
Copy number loss
Williams syndrome
GPathogenic
ABHD11, ABHD11-AS1
+25 more
Copy number loss
Williams syndrome
GPathogenic
BAZ1B, BCL7B
+25 more
Copy number loss
Williams syndrome
GPathogenic
ABHD11, ABHD11-AS1
+29 more
Copy number loss
Williams syndrome
GPathogenic
ABHD11, ABHD11-AS1
+27 more
Copy number loss
Williams syndrome
GPathogenic
ABHD11, ABHD11-AS1
+25 more
Copy number loss
Williams syndrome
GPathogenic
ELN
(L56fs +1 more)
Deletion
(frameshift variant)
Supravalvar aortic stenosis
+2 more
GPathogenic/Likely pathogenic
ELN
(G340R +6 more)
Single nucleotide variant
(missense variant)
Williams syndrome
+3 more
GUncertain significance
ELN
(A448E +3 more)
Single nucleotide variant
(missense variant +1 more)
ELN-related condition
+4 more
GConflicting classifications of pathogenicity
ELN
Copy number loss
Cutis laxa, autosomal dominant 1
+2 more
Gnot provided
BAZ1B
(R254*)
Single nucleotide variant
(nonsense)
Williams syndrome
GUncertain significance
ELN
(G123R +4 more)
Single nucleotide variant
(missense variant)
Supravalvar aortic stenosis
+3 more
GUncertain significance
ELN
Single nucleotide variant
(synonymous variant)
Supravalvar aortic stenosis
+3 more
GLikely benign
ABHD11, ABHD11-AS1
+20 more
Copy number loss
Williams syndrome
GLikely pathogenic
ELN, ELN-AS1
(V426M +11 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
CLDN4, ELN
+3 more
Deletion
Williams syndrome
GPathogenic
ELN
Single nucleotide variant
(intron variant)
Williams syndrome
+1 more
GConflicting classifications of pathogenicity
ELN
(V254A +6 more)
Single nucleotide variant
(missense variant)
Williams syndrome
GUncertain significance
ELN
(S333fs +6 more)
Microsatellite
(frameshift variant)
Williams syndrome
GPathogenic
ELN
(G12V)
Single nucleotide variant
(missense variant)
Supravalvar aortic stenosis
+3 more
GConflicting classifications of pathogenicity
ELN
(Y369* +6 more)
Single nucleotide variant
(nonsense)
Supravalvar aortic stenosis
+2 more
GPathogenic/Likely pathogenic
ABHD11, ABHD11-AS1
+25 more
Deletion
Williams syndrome
GPathogenic
MLXIPL
(A513T)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign/Likely benign
MLXIPL
Single nucleotide variant
(synonymous variant +1 more)
Williams syndrome
+1 more
GBenign/Likely benign
ABHD11, ABHD11-AS1
+23 more
Copy number loss
Williams syndrome
GPathogenic
ABHD11, ABHD11-AS1
+25 more
Copy number loss
Williams syndrome
GPathogenic
ABHD11, ABHD11-AS1
+44 more
Copy number loss
Williams syndrome
GPathogenic
ABHD11, ABHD11-AS1
+25 more
Copy number loss
Williams syndrome
GPathogenic
ABHD11, ABHD11-AS1
+24 more
Copy number loss
Williams syndrome
GPathogenic
ELN
(G473S)
Single nucleotide variant
(missense variant +1 more)
Supravalvar aortic stenosis
+5 more
GUncertain significance
ELN
(A380T +6 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 1
+2 more
GUncertain significance
ELN, ELN-AS1
(V559I +11 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GConflicting classifications of pathogenicity
ELN
(G68R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
ELN
Deletion
(inframe_deletion)
Williams syndrome
+2 more
GConflicting classifications of pathogenicity
ELN
Single nucleotide variant
(synonymous variant)
Supravalvar aortic stenosis
+4 more
GBenign/Likely benign
ELN
(G648E +11 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ELN
(A637T +11 more)
Single nucleotide variant
(missense variant)
ELN-related condition
+3 more
GConflicting classifications of pathogenicity
ELN
Single nucleotide variant
Cutis laxa, autosomal dominant 1
+3 more
GUncertain significance
ELN, ELN-AS1
(A442F +10 more)
Indel
(missense variant +1 more)
Cutis laxa, autosomal dominant 1
+3 more
GUncertain significance
ELN
(G31E)
Single nucleotide variant
(missense variant)
Supravalvar aortic stenosis
+1 more
GUncertain significance
ELN
(G216V +4 more)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal dominant 1
+3 more
GConflicting classifications of pathogenicity
ELN
Single nucleotide variant
(intron variant)
Cutis laxa, autosomal dominant
+4 more
GBenign
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