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Links from MedGen

Items: 73

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BFSP1
(A81T +3 more)
Single nucleotide variant
(missense variant +1 more)
Cataract 33
GUncertain significance
BFSP1
(R524C +4 more)
Single nucleotide variant
(missense variant)
Cataract 33
GUncertain significance
BFSP1
(A532T +4 more)
Single nucleotide variant
(missense variant)
Cataract 33
GUncertain significance
BFSP1
Single nucleotide variant
(synonymous variant +1 more)
Cataract 33
GLikely benign
BFSP1
(E590K +4 more)
Single nucleotide variant
(missense variant)
Cataract 33
GUncertain significance
BFSP1
(R344Q +4 more)
Single nucleotide variant
(missense variant)
Cataract 33
GUncertain significance
BFSP1
(D277Y +4 more)
Single nucleotide variant
(missense variant)
Cataract 33
GUncertain significance
BFSP1
Single nucleotide variant
(intron variant)
Cataract 33
GLikely benign
BFSP1
(D19N)
Single nucleotide variant
(missense variant +1 more)
Cataract 33
GUncertain significance
BFSP1
Single nucleotide variant
(synonymous variant)
Cataract 33
GLikely benign
BFSP1
Single nucleotide variant
(synonymous variant +1 more)
Cataract 33
GLikely benign
BFSP1
(E290fs +4 more)
Insertion
(frameshift variant)
Cataract 33
GUncertain significance
BFSP1, PCSK2
Duplication
Cataract 33
GUncertain significance
BFSP1
(G46W)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
BFSP1
Single nucleotide variant
(synonymous variant)
Cataract 33
GBenign
BFSP1
(R182Q +3 more)
Single nucleotide variant
(missense variant)
Cataract 33
GUncertain significance
BFSP1
Single nucleotide variant
(synonymous variant)
Cataract 33
GUncertain significance
BFSP1
Single nucleotide variant
(synonymous variant)
Cataract 33
GLikely benign
BFSP1
(C148fs +3 more)
Microsatellite
(frameshift variant)
Cataract 33
GPathogenic
BFSP1
Single nucleotide variant
(synonymous variant +1 more)
Cataract 33
GLikely benign
BFSP1
Single nucleotide variant
(synonymous variant +1 more)
Cataract 33
GLikely benign
BFSP1
Single nucleotide variant
(intron variant)
Cataract 33
GLikely benign
BFSP1
(A40G +3 more)
Single nucleotide variant
(missense variant)
Cataract 33
GUncertain significance
BFSP1
(R172W +3 more)
Single nucleotide variant
(missense variant)
Cataract 33
GUncertain significance
BFSP1
Single nucleotide variant
(intron variant)
Cataract 33
GLikely benign
BFSP1
Single nucleotide variant
(intron variant)
Cataract 33
GBenign
BFSP1
Single nucleotide variant
(intron variant)
Cataract 33
GLikely benign
BFSP1
Single nucleotide variant
(intron variant)
Cataract 33
GLikely benign
BFSP1
Single nucleotide variant
(synonymous variant +1 more)
Cataract 33
GLikely benign
BFSP1
Single nucleotide variant
(intron variant)
Cataract 33
GLikely benign
BFSP1
(T537I +3 more)
Single nucleotide variant
(missense variant)
Cataract 33
GUncertain significance
BFSP1
Single nucleotide variant
(intron variant)
Cataract 33
GUncertain significance
BFSP1
(K447Q +3 more)
Single nucleotide variant
(missense variant)
Cataract 33
GUncertain significance
BFSP1
(H176Y +3 more)
Single nucleotide variant
(missense variant)
Cataract 33
+1 more
GConflicting classifications of pathogenicity
BFSP1
(V341L +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
BFSP1
Single nucleotide variant
(intron variant)
Cataract 33
+1 more
GBenign
BFSP1
Single nucleotide variant
(intron variant)
Cataract 33
+1 more
GBenign
BFSP1
Single nucleotide variant
(intron variant)
Cataract 33
+1 more
GBenign
BFSP1
Single nucleotide variant
(synonymous variant)
Cataract 33
GBenign
BFSP1
(L10F +2 more)
Single nucleotide variant
(missense variant +1 more)
Cataract 33
+1 more
GConflicting classifications of pathogenicity
BFSP1
(L72P)
Single nucleotide variant
(missense variant +1 more)
Cataract 33
GLikely pathogenic
BFSP1
(T351A +3 more)
Single nucleotide variant
(missense variant)
Cataract 33
GUncertain significance
BFSP1
(R104W +3 more)
Single nucleotide variant
(missense variant)
Cataract 33
GUncertain significance
BFSP1
(Q189* +3 more)
Single nucleotide variant
(nonsense)
Cataract 33
GPathogenic
BFSP1
(E16Q)
Single nucleotide variant
(missense variant +1 more)
Cataract 33
+1 more
GBenign/Likely benign
BFSP1
(D531E +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
BFSP1
(M140V +3 more)
Single nucleotide variant
(missense variant +1 more)
Cataract 33
GLikely benign
BFSP1
(A296V +3 more)
Single nucleotide variant
(missense variant)
Cataract 33
+1 more
GBenign/Likely benign
BFSP1
(S125N)
Single nucleotide variant
(missense variant +1 more)
Cataract 33
GUncertain significance
BFSP1
(V646M +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
BFSP1
Single nucleotide variant
(synonymous variant)
Cataract 33
GLikely benign
BFSP1
(E647Q +3 more)
Single nucleotide variant
(missense variant)
Cataract 33
GLikely benign
BFSP1
Single nucleotide variant
(synonymous variant)
Cataract 33
GBenign
BFSP1
(V507fs +3 more)
Indel
(frameshift variant)
Cataract 33
GUncertain significance
BFSP1
(E468Q +3 more)
Single nucleotide variant
(missense variant)
Cataract 33
GUncertain significance
BFSP1
Single nucleotide variant
(intron variant)
Cataract 33
GLikely benign
BFSP1
Single nucleotide variant
(synonymous variant)
Cataract 33
GBenign
BFSP1
(A592V +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
BFSP1
(G46A)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign/Likely benign
BFSP1
(N383S +3 more)
Single nucleotide variant
(missense variant)
Cataract 33
GBenign
BFSP1
(E375D +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
BFSP1
Single nucleotide variant
(intron variant)
Cataract 33
GPathogenic
BFSP1
(D348N +3 more)
Single nucleotide variant
(missense variant)
Cataract 33
GPathogenic
Developmental cataract
GLikely pathogenic
BFSP1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
BFSP1
Single nucleotide variant
(synonymous variant)
Cataract 33
+2 more
GBenign
BFSP1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
BFSP1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
BFSP1
(A36F)
Indel
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
BFSP1
(G345S +3 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
BFSP1
(I271T +3 more)
Single nucleotide variant
(missense variant)
Cataract 33
GUncertain significance
BFSP1
Deletion
(frameshift variant)
Cataract 33
GBenign
BFSP1
Deletion
(splice acceptor variant +1 more)
Cataract 33
GPathogenic
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