U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 123

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAMTSL4
(C1020fs +2 more)
Duplication
(frameshift variant)
Ectopia lentis et pupillae
GUncertain significance
ADAMTSL4
(G717R +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ADAMTSL4, ADAMTSL4-AS2
(H347R)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ADAMTSL4
(S720F +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ADAMTSL4, ADAMTSL4-AS2
(P199S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
ADAMTSL4, ADAMTSL4-AS2
(G642R +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
ADAMTSL4
(P1052L +2 more)
Single nucleotide variant
(missense variant)
Ectopia lentis et pupillae
+3 more
GUncertain significance
ADAMTSL4, ADAMTSL4-AS2
(A627V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
ADAMTSL4
(N837D +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
ADAMTSL4, ADAMTSL4-AS2
(R440C +1 more)
Single nucleotide variant
(missense variant)
Ectopia lentis 2, isolated, autosomal recessive
+3 more
GUncertain significance
ADAMTSL4
(E1017K +2 more)
Single nucleotide variant
(missense variant)
Ectopia lentis 2, isolated, autosomal recessive
+3 more
GUncertain significance
ADAMTSL4, ADAMTSL4-AS2
(Y453C +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ADAMTSL4, ADAMTSL4-AS2
(P620L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
ADAMTSL4
(R945C +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ADAMTSL4
(R1016W +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ADAMTSL4, ADAMTSL4-AS2
Single nucleotide variant
(intron variant)
Ectopia lentis 2, isolated, autosomal recessive
+1 more
GUncertain significance
ADAMTSL4
Microsatellite
(intron variant)
Ectopia lentis et pupillae
+2 more
GBenign/Likely benign
ADAMTSL4, ADAMTSL4-AS2
Single nucleotide variant
(synonymous variant)
Ectopia lentis 2, isolated, autosomal recessive
+2 more
GLikely benign
ADAMTSL4, ADAMTSL4-AS2
(T322fs)
Insertion
(frameshift variant)
Ectopia lentis et pupillae
+1 more
GPathogenic
ADAMTSL4, ADAMTSL4-AS2
(V625G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
ADAMTSL4, LOC129931410
(R1013Q +2 more)
Single nucleotide variant
(missense variant)
Ectopia lentis et pupillae
+3 more
GUncertain significance
ADAMTSL4
(E1090Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ADAMTSL4, ADAMTSL4-AS2
(I152N)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ADAMTSL4
(R707H +2 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
ADAMTSL4, ADAMTSL4-AS2
(G345S)
Single nucleotide variant
(missense variant)
Ectopia lentis 2, isolated, autosomal recessive
+3 more
GUncertain significance
ADAMTSL4
(P788L +2 more)
Single nucleotide variant
(missense variant)
Ectopia lentis 2, isolated, autosomal recessive
+3 more
GUncertain significance
ADAMTSL4, ADAMTSL4-AS2
(G518R +1 more)
Single nucleotide variant
(missense variant)
Ectopia lentis et pupillae
+2 more
GUncertain significance
ADAMTSL4
(R862H +2 more)
Single nucleotide variant
(missense variant)
Ectopia lentis 2, isolated, autosomal recessive
+3 more
GUncertain significance
ADAMTSL4, ADAMTSL4-AS2
(R250W)
Single nucleotide variant
(missense variant)
Ectopia lentis 2, isolated, autosomal recessive
+3 more
GUncertain significance
ADAMTSL4
(G920S +2 more)
Single nucleotide variant
(missense variant)
Ectopia lentis et pupillae
+2 more
GUncertain significance
ADAMTSL4-AS2, ADAMTSL4
(S635fs +2 more)
Microsatellite
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
ADAMTSL4
(H808R +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ADAMTSL4, ADAMTSL4-AS2
(E382fs)
Deletion
(frameshift variant)
See cases
+3 more
GPathogenic/Likely pathogenic
ADAMTSL4-AS2, ADAMTSL4
(A676T +1 more)
Single nucleotide variant
(missense variant +1 more)
Ectopia lentis et pupillae
+3 more
GUncertain significance
ADAMTSL4
(R993Q +2 more)
Single nucleotide variant
(missense variant)
Ectopia lentis et pupillae
+3 more
GUncertain significance
ADAMTSL4
(V1050I +2 more)
Single nucleotide variant
(missense variant)
Ectopia lentis et pupillae
+3 more
GUncertain significance
ADAMTSL4
(R919Q +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
ADAMTSL4
(R809C +2 more)
Single nucleotide variant
(missense variant)
Ectopia lentis et pupillae
+3 more
GUncertain significance
ADAMTSL4
(G718fs +2 more)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
ADAMTSL4
(Q870fs)
Deletion
(frameshift variant +1 more)
Ectopia lentis et pupillae
GLikely benign
ADAMTSL4
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
ADAMTSL4
Single nucleotide variant
(intron variant)
Ectopia lentis et pupillae
+1 more
GBenign
ADAMTSL4, ADAMTSL4-AS2
(G479fs +1 more)
Deletion
(frameshift variant)
Ectopia lentis et pupillae
GPathogenic
ADAMTSL4
(R742C +2 more)
Single nucleotide variant
(missense variant)
Ectopia lentis et pupillae
+2 more
GUncertain significance
ADAMTSL4
(R1083G +2 more)
Single nucleotide variant
(missense variant)
ADAMTSL4-related disorder
+3 more
GBenign/Likely benign
ADAMTSL4, LOC129931410
(R989H +2 more)
Single nucleotide variant
(missense variant)
ADAMTSL4-related disorder
+3 more
GBenign/Likely benign
ADAMTSL4, LOC129931410
(S1026R +2 more)
Single nucleotide variant
(missense variant)
Ectopia lentis 2, isolated, autosomal recessive
+3 more
GUncertain significance
ADAMTSL4, ADAMTSL4-AS2
(P654L +1 more)
Single nucleotide variant
(missense variant +1 more)
Ectopia lentis 2, isolated, autosomal recessive
+3 more
GUncertain significance
ADAMTSL4, ADAMTSL4-AS2
(G463A +1 more)
Single nucleotide variant
(missense variant)
Ectopia lentis 2, isolated, autosomal recessive
+3 more
GUncertain significance
ADAMTSL4, ADAMTSL4-AS2
(T434I +1 more)
Single nucleotide variant
(missense variant)
Ectopia lentis 2, isolated, autosomal recessive
+2 more
GUncertain significance
ADAMTSL4
(R1030Q +2 more)
Single nucleotide variant
(missense variant)
Ectopia lentis et pupillae
+2 more
GUncertain significance
ADAMTSL4
(R996Q +2 more)
Single nucleotide variant
(missense variant)
Ectopia lentis 2, isolated, autosomal recessive
+3 more
GUncertain significance
ADAMTSL4
(R732Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ADAMTSL4
(R771W +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ADAMTSL4
(R788C +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ADAMTSL4
(S721L +2 more)
Single nucleotide variant
(missense variant)
Ectopia lentis 2, isolated, autosomal recessive
+3 more
GUncertain significance
ADAMTSL4
(R751W +2 more)
Single nucleotide variant
(missense variant)
Ectopia lentis 2, isolated, autosomal recessive
+3 more
GUncertain significance
ADAMTSL4
(R707C +2 more)
Single nucleotide variant
(missense variant)
Ectopia lentis 2, isolated, autosomal recessive
+2 more
GConflicting classifications of pathogenicity
ADAMTSL4, ADAMTSL4-AS2
Single nucleotide variant
(synonymous variant)
ADAMTSL4-related disorder
+3 more
GBenign/Likely benign
ADAMTSL4
(P911L +2 more)
Single nucleotide variant
(missense variant)
Ectopia lentis 2, isolated, autosomal recessive
+3 more
GUncertain significance
ADAMTSL4
(P973S +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ADAMTSL4
(V908M +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ADAMTSL4
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
ADAMTSL4
(R874C +2 more)
Single nucleotide variant
(missense variant)
Ectopia lentis et pupillae
+2 more
GUncertain significance
ADAMTSL4
(A863T +2 more)
Single nucleotide variant
(missense variant)
Ectopia lentis 2, isolated, autosomal recessive
+2 more
GBenign/Likely benign
ADAMTSL4, ADAMTSL4-AS2
(R703C +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
ADAMTSL4, ADAMTSL4-AS2
(R655C +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ADAMTSL4, ADAMTSL4-AS2
(A377E)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ADAMTSL4
(N775K +2 more)
Single nucleotide variant
(missense variant)
Ectopia lentis et pupillae
+2 more
GUncertain significance
ADAMTSL4, ADAMTSL4-AS2
(S268F)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
ADAMTSL4, ADAMTSL4-AS2
(V646M +1 more)
Single nucleotide variant
(missense variant +1 more)
Ectopia lentis et pupillae
+3 more
GUncertain significance
ADAMTSL4
Single nucleotide variant
(intron variant)
Ectopia lentis 2, isolated, autosomal recessive
+3 more
GConflicting classifications of pathogenicity
ADAMTSL4
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ADAMTSL4
Single nucleotide variant
(intron variant)
Ectopia lentis et pupillae
+1 more
GUncertain significance
ADAMTSL4, ADAMTSL4-AS2
(G460S +1 more)
Single nucleotide variant
(missense variant)
Ectopia lentis et pupillae
+2 more
GUncertain significance
ADAMTSL4, ADAMTSL4-AS2
Single nucleotide variant
(intron variant)
Ectopia lentis et pupillae
+1 more
GUncertain significance
ADAMTSL4
Single nucleotide variant
(synonymous variant +1 more)
Ectopia lentis et pupillae
+1 more
GBenign
ADAMTSL4, ADAMTSL4-AS2
(R141*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
ADAMTSL4
(R865H +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
ADAMTSL4
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
ADAMTSL4
(R1060H +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GLikely benign
ADAMTSL4
Single nucleotide variant
(synonymous variant)
Ectopia lentis 2, isolated, autosomal recessive
+2 more
GBenign/Likely benign
ADAMTSL4
(G988A +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ADAMTSL4
Single nucleotide variant
(synonymous variant)
ADAMTSL4-related disorder
+3 more
GBenign/Likely benign
ADAMTSL4
(R932H +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ADAMTSL4
(R864Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ADAMTSL4
Single nucleotide variant
(synonymous variant)
ADAMTSL4-related disorder
+3 more
GBenign/Likely benign
ADAMTSL4
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
ADAMTSL4
(M838V +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
ADAMTSL4
Single nucleotide variant
(synonymous variant)
Ectopia lentis et pupillae
+2 more
GBenign
ADAMTSL4
(R798W +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ADAMTSL4
(L769V +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
ADAMTSL4
(P763R +2 more)
Single nucleotide variant
(missense variant)
ADAMTSL4-related disorder
+3 more
GBenign/Likely benign
ADAMTSL4, ADAMTSL4-AS2
Single nucleotide variant
(synonymous variant)
ADAMTSL4-related disorder
+3 more
GConflicting classifications of pathogenicity
ADAMTSL4, ADAMTSL4-AS2
(S696L +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ADAMTSL4, ADAMTSL4-AS2
Single nucleotide variant
(intron variant)
Ectopia lentis 2, isolated, autosomal recessive
+2 more
GBenign
ADAMTSL4, ADAMTSL4-AS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GUncertain significance
ADAMTSL4, ADAMTSL4-AS2
(V593I +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ADAMTSL4, ADAMTSL4-AS2
(R519W +1 more)
Single nucleotide variant
(missense variant)
Ectopia lentis et pupillae
+2 more
GUncertain significance
ADAMTSL4, ADAMTSL4-AS2
(R512W +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
Format
Items per page
Sort by
Choose Destination