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Links from MedGen

Items: 1 to 100 of 775

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ELN
Single nucleotide variant
(intron variant)
Supravalvar aortic stenosis
GUncertain significance
ELN
Single nucleotide variant
(synonymous variant +1 more)
Supravalvar aortic stenosis
GLikely benign
ELN
(V302I +6 more)
Single nucleotide variant
(missense variant)
Supravalvar aortic stenosis
GUncertain significance
ELN
(A334T +6 more)
Single nucleotide variant
(missense variant)
Supravalvar aortic stenosis
GUncertain significance
ELN
Single nucleotide variant
(splice acceptor variant)
Supravalvar aortic stenosis
GLikely pathogenic
ELN
Single nucleotide variant
(intron variant)
Supravalvar aortic stenosis
GLikely benign
ELN
Single nucleotide variant
(synonymous variant)
Supravalvar aortic stenosis
GBenign
ELN
Single nucleotide variant
(intron variant)
Supravalvar aortic stenosis
GLikely benign
ELN
Single nucleotide variant
(synonymous variant)
Supravalvar aortic stenosis
GUncertain significance
ELN
Single nucleotide variant
(intron variant)
Supravalvar aortic stenosis
GLikely benign
ELN
(A246del +6 more)
Microsatellite
(inframe_deletion)
Supravalvar aortic stenosis
GUncertain significance
ELN
(K168R +5 more)
Single nucleotide variant
(missense variant)
Supravalvar aortic stenosis
GUncertain significance
ELN
Single nucleotide variant
(intron variant)
Supravalvar aortic stenosis
GLikely benign
ELN
Deletion
Supravalvar aortic stenosis
GUncertain significance
ELN
(P439S +4 more)
Single nucleotide variant
(missense variant +1 more)
Supravalvar aortic stenosis
GUncertain significance
ELN, ELN-AS1
Deletion
(non-coding transcript variant +1 more)
Supravalvar aortic stenosis
GUncertain significance
ELN
Single nucleotide variant
(synonymous variant)
Supravalvar aortic stenosis
GLikely benign
ELN
Single nucleotide variant
(intron variant)
Supravalvar aortic stenosis
GLikely benign
ELN
Single nucleotide variant
(synonymous variant +1 more)
Supravalvar aortic stenosis
GLikely benign
ELN, ELN-AS1
(P478L +11 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Supravalvar aortic stenosis
GUncertain significance
ELN
Single nucleotide variant
(intron variant)
Supravalvar aortic stenosis
GUncertain significance
ELN
Single nucleotide variant
(intron variant)
Supravalvar aortic stenosis
GLikely benign
ELN
Duplication
(inframe_insertion)
Supravalvar aortic stenosis
GUncertain significance
ELN
Single nucleotide variant
(synonymous variant)
Supravalvar aortic stenosis
GLikely benign
ELN
(G299D +6 more)
Single nucleotide variant
(missense variant)
Supravalvar aortic stenosis
GUncertain significance
ELN, ELN-AS1
(G489R +11 more)
Single nucleotide variant
(missense variant)
Supravalvar aortic stenosis
GUncertain significance
ELN
Single nucleotide variant
(intron variant)
Supravalvar aortic stenosis
GLikely benign
ELN, ELN-AS1
Single nucleotide variant
(synonymous variant +1 more)
Supravalvar aortic stenosis
GLikely benign
ELN
Single nucleotide variant
(synonymous variant +1 more)
Supravalvar aortic stenosis
GLikely benign
ELN
Single nucleotide variant
(synonymous variant)
Supravalvar aortic stenosis
GLikely benign
ELN
Single nucleotide variant
(synonymous variant)
Supravalvar aortic stenosis
GLikely benign
ELN, ELN-AS1
(G431D +11 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Supravalvar aortic stenosis
GUncertain significance
ELN
Single nucleotide variant
(synonymous variant)
Supravalvar aortic stenosis
GLikely benign
ELN, ELN-AS1
Single nucleotide variant
(intron variant)
Supravalvar aortic stenosis
GUncertain significance
ELN
Single nucleotide variant
(synonymous variant)
Supravalvar aortic stenosis
GLikely benign
ELN
(A278V +6 more)
Single nucleotide variant
(missense variant)
Supravalvar aortic stenosis
GUncertain significance
ELN
Single nucleotide variant
(splice acceptor variant +1 more)
Supravalvar aortic stenosis
GLikely benign
ELN
(G59R +1 more)
Single nucleotide variant
(missense variant +1 more)
Supravalvar aortic stenosis
GUncertain significance
ELN, ELN-AS1
(G454S +11 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Supravalvar aortic stenosis
GUncertain significance
ELN
Single nucleotide variant
(intron variant)
Supravalvar aortic stenosis
GLikely benign
ELN
Single nucleotide variant
(synonymous variant)
Supravalvar aortic stenosis
GLikely benign
ELN
(G292S +6 more)
Single nucleotide variant
(missense variant)
Supravalvar aortic stenosis
GUncertain significance
ELN, ELN-AS1
Single nucleotide variant
(splice donor variant)
Supravalvar aortic stenosis
GLikely pathogenic
ELN
Single nucleotide variant
(intron variant)
Supravalvar aortic stenosis
GLikely benign
ELN
(A591T +11 more)
Single nucleotide variant
(missense variant)
Supravalvar aortic stenosis
GUncertain significance
ELN
Single nucleotide variant
(intron variant)
Supravalvar aortic stenosis
GLikely benign
ELN
Deletion
(inframe_deletion +1 more)
Supravalvar aortic stenosis
GUncertain significance
ELN
(A450T +3 more)
Single nucleotide variant
(missense variant +1 more)
Supravalvar aortic stenosis
GUncertain significance
ELN
Single nucleotide variant
(synonymous variant)
Supravalvar aortic stenosis
GLikely benign
ELN
(Y211* +4 more)
Duplication
(nonsense +1 more)
Supravalvar aortic stenosis
GPathogenic
ELN
(A448T +3 more)
Single nucleotide variant
(missense variant +1 more)
Supravalvar aortic stenosis
GUncertain significance
ELN, ELN-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Supravalvar aortic stenosis
GLikely benign
ELN
Single nucleotide variant
(intron variant +1 more)
Supravalvar aortic stenosis
GLikely pathogenic
ELN
Single nucleotide variant
(intron variant)
Supravalvar aortic stenosis
GUncertain significance
ELN
(G180E +4 more)
Single nucleotide variant
(missense variant +1 more)
Supravalvar aortic stenosis
GUncertain significance
ELN, ELN-AS1
(V462A +11 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Supravalvar aortic stenosis
GUncertain significance
ELN
(A219fs +6 more)
Deletion
(frameshift variant)
Supravalvar aortic stenosis
GPathogenic
ELN
(T5R)
Single nucleotide variant
(missense variant)
Supravalvar aortic stenosis
GUncertain significance
ELN
(A249fs +6 more)
Deletion
(frameshift variant)
Supravalvar aortic stenosis
GPathogenic
ELN
Single nucleotide variant
(intron variant)
Supravalvar aortic stenosis
GLikely benign
ELN
(Y221fs +4 more)
Deletion
(frameshift variant +1 more)
Supravalvar aortic stenosis
GPathogenic
ELN
(G62V +1 more)
Single nucleotide variant
(missense variant +1 more)
Supravalvar aortic stenosis
GUncertain significance
ELN
(G205D +4 more)
Single nucleotide variant
(missense variant +1 more)
Supravalvar aortic stenosis
GUncertain significance
ELN
(F363fs +6 more)
Duplication
(frameshift variant)
Supravalvar aortic stenosis
GPathogenic
ELN
Single nucleotide variant
(intron variant)
Supravalvar aortic stenosis
GLikely benign
ELN
Single nucleotide variant
(intron variant)
Supravalvar aortic stenosis
GLikely benign
ELN
Single nucleotide variant
(intron variant)
Supravalvar aortic stenosis
GLikely benign
ELN
(G262R +6 more)
Single nucleotide variant
(missense variant)
Supravalvar aortic stenosis
GUncertain significance
ELN
Single nucleotide variant
(synonymous variant)
Supravalvar aortic stenosis
GLikely benign
ELN
(L624S +12 more)
Single nucleotide variant
(missense variant)
Supravalvar aortic stenosis
GUncertain significance
ELN
Single nucleotide variant
(intron variant)
Supravalvar aortic stenosis
GLikely benign
ELN
(G49V +1 more)
Single nucleotide variant
(missense variant)
Supravalvar aortic stenosis
GUncertain significance
ELN
Single nucleotide variant
(intron variant)
Supravalvar aortic stenosis
GLikely benign
ELN
Single nucleotide variant
(splice donor variant +1 more)
Supravalvar aortic stenosis
GPathogenic
ELN
(A270V +6 more)
Single nucleotide variant
(missense variant)
Supravalvar aortic stenosis
GUncertain significance
ELN
Single nucleotide variant
(intron variant)
Supravalvar aortic stenosis
GLikely benign
ELN
Duplication
(inframe_insertion +1 more)
Supravalvar aortic stenosis
GUncertain significance
ELN
Single nucleotide variant
(synonymous variant)
Supravalvar aortic stenosis
GLikely benign
ELN
Single nucleotide variant
(intron variant)
Supravalvar aortic stenosis
GLikely benign
ELN
(P423L +4 more)
Single nucleotide variant
(missense variant +1 more)
Supravalvar aortic stenosis
GUncertain significance
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