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Links from MedGen

Items: 1 to 100 of 105

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LBR
(P376R)
Single nucleotide variant
(missense variant)
Greenberg dysplasia
+1 more
GConflicting classifications of pathogenicity
LBR
(L331F)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+2 more
GUncertain significance
LBR
Single nucleotide variant
(intron variant)
Regressive spondylometaphyseal dysplasia
+4 more
GLikely benign
LBR
(R95H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LBR
(I287T)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
LBR
(D460G)
Single nucleotide variant
(missense variant)
Greenberg dysplasia
GPathogenic
LBR
Single nucleotide variant
(splice donor variant)
Greenberg dysplasia
GPathogenic
LBR
(R96Q)
Single nucleotide variant
(missense variant)
Greenberg dysplasia
+1 more
GUncertain significance
LBR
(T118I)
Single nucleotide variant
(missense variant)
Greenberg dysplasia
GUncertain significance
LBR
Single nucleotide variant
(synonymous variant)
Greenberg dysplasia
+1 more
GConflicting classifications of pathogenicity
LBR
(P124Q)
Single nucleotide variant
(missense variant)
Greenberg dysplasia
GUncertain significance
LBR
(A406G)
Single nucleotide variant
(missense variant)
Greenberg dysplasia
GUncertain significance
LBR
(R413H)
Single nucleotide variant
(missense variant)
Greenberg dysplasia
GUncertain significance
LBR
Single nucleotide variant
(3 prime UTR variant)
Greenberg dysplasia
GUncertain significance
LBR
Single nucleotide variant
(3 prime UTR variant)
Greenberg dysplasia
GUncertain significance
LBR
Single nucleotide variant
(3 prime UTR variant)
Greenberg dysplasia
GUncertain significance
LBR
Single nucleotide variant
(3 prime UTR variant)
Greenberg dysplasia
GUncertain significance
LBR
Single nucleotide variant
(3 prime UTR variant)
Greenberg dysplasia
GUncertain significance
LBR
(V188I)
Single nucleotide variant
(missense variant)
Greenberg dysplasia
+1 more
GConflicting classifications of pathogenicity
LBR
(L192R)
Single nucleotide variant
(missense variant)
Greenberg dysplasia
+1 more
GUncertain significance
LBR
(M219V)
Single nucleotide variant
(missense variant)
Greenberg dysplasia
GUncertain significance
LBR
(P244S)
Single nucleotide variant
(missense variant)
Greenberg dysplasia
GUncertain significance
LBR
(A521T)
Single nucleotide variant
(missense variant)
Greenberg dysplasia
GUncertain significance
LBR
(A521S)
Single nucleotide variant
(missense variant)
Greenberg dysplasia
+2 more
GUncertain significance
LBR
(A598V)
Single nucleotide variant
(missense variant)
Greenberg dysplasia
GUncertain significance
LBR
Single nucleotide variant
(5 prime UTR variant +1 more)
Greenberg dysplasia
GUncertain significance
LBR
Single nucleotide variant
(intron variant)
Greenberg dysplasia
GUncertain significance
LBR
(P248L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
LBR
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LBR
(R605H)
Single nucleotide variant
(missense variant)
Greenberg dysplasia
GUncertain significance
LBR
Single nucleotide variant
(3 prime UTR variant)
Greenberg dysplasia
GUncertain significance
LBR
Single nucleotide variant
(3 prime UTR variant)
Greenberg dysplasia
GUncertain significance
LBR
Single nucleotide variant
(3 prime UTR variant)
Greenberg dysplasia
GUncertain significance
LBR
(R85Q)
Single nucleotide variant
(missense variant)
Greenberg dysplasia
GUncertain significance
LBR
(Y345C)
Single nucleotide variant
(missense variant)
Regressive spondylometaphyseal dysplasia
+1 more
GUncertain significance
LBR
(R372H)
Single nucleotide variant
(missense variant)
Greenberg dysplasia
+2 more
GUncertain significance
LBR
Single nucleotide variant
(3 prime UTR variant)
Greenberg dysplasia
GUncertain significance
LBR
(P91S)
Single nucleotide variant
(missense variant)
Greenberg dysplasia
+2 more
GConflicting classifications of pathogenicity
LBR
Single nucleotide variant
(intron variant)
Greenberg dysplasia
+1 more
GConflicting classifications of pathogenicity
LBR
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
LBR
Single nucleotide variant
(intron variant)
Greenberg dysplasia
+2 more
GConflicting classifications of pathogenicity
LBR
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LBR
(Y430C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LBR
Single nucleotide variant
(synonymous variant)
Connective tissue disorder
+2 more
GConflicting classifications of pathogenicity
LBR
(T311A)
Single nucleotide variant
(missense variant)
Greenberg dysplasia
+1 more
GConflicting classifications of pathogenicity
LBR
Single nucleotide variant
(synonymous variant)
Greenberg dysplasia
+1 more
GConflicting classifications of pathogenicity
LBR
(A510T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
LBR
(R586H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
LBR
(L456V)
Single nucleotide variant
(missense variant)
Regressive spondylometaphyseal dysplasia
+5 more
GConflicting classifications of pathogenicity
LBR
Single nucleotide variant
(intron variant)
Greenberg dysplasia
GUncertain significance
LBR
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
LBR
Single nucleotide variant
(intron variant)
Greenberg dysplasia
GUncertain significance
LBR
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
LBR
Single nucleotide variant
(5 prime UTR variant +1 more)
Greenberg dysplasia
GUncertain significance
LBR
Single nucleotide variant
(5 prime UTR variant +1 more)
Greenberg dysplasia
GUncertain significance
LBR
Single nucleotide variant
(5 prime UTR variant +1 more)
Greenberg dysplasia
GUncertain significance
LBR
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
LBR
Single nucleotide variant
(5 prime UTR variant +1 more)
Greenberg dysplasia
GLikely benign
LBR
Single nucleotide variant
(synonymous variant)
Greenberg dysplasia
+1 more
GConflicting classifications of pathogenicity
LBR
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
LBR
(T33A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LBR
(S69F)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
LBR
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LBR
(R203W)
Single nucleotide variant
(missense variant)
Greenberg dysplasia
GUncertain significance
LBR
(N242D)
Single nucleotide variant
(missense variant)
Greenberg dysplasia
GUncertain significance
LBR
(A249D)
Single nucleotide variant
(missense variant)
Greenberg dysplasia
+1 more
GConflicting classifications of pathogenicity
LBR
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LBR
Duplication
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LBR
Single nucleotide variant
(synonymous variant)
not specified
+6 more
GBenign/Likely benign
LBR
(Y300C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
LBR
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LBR
(H320R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
LBR
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
LBR
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LBR
Single nucleotide variant
(synonymous variant)
Connective tissue disorder
+2 more
GConflicting classifications of pathogenicity
LBR
(T443M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LBR
(I491V)
Single nucleotide variant
(missense variant)
Greenberg dysplasia
GUncertain significance
LBR
Single nucleotide variant
(synonymous variant)
Greenberg dysplasia
+2 more
GUncertain significance
LBR
(A557V)
Single nucleotide variant
(missense variant)
Greenberg dysplasia
GUncertain significance
LBR
(I610V)
Single nucleotide variant
(missense variant)
Greenberg dysplasia
GUncertain significance
LBR
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
LBR
Single nucleotide variant
(3 prime UTR variant)
Greenberg dysplasia
GBenign
LBR
Single nucleotide variant
(3 prime UTR variant)
Greenberg dysplasia
GUncertain significance
LBR
Single nucleotide variant
(3 prime UTR variant)
Greenberg dysplasia
GLikely benign
LBR
Single nucleotide variant
(3 prime UTR variant)
Greenberg dysplasia
GUncertain significance
LBR
Single nucleotide variant
(3 prime UTR variant)
Greenberg dysplasia
GBenign
LBR
Single nucleotide variant
(3 prime UTR variant)
Greenberg dysplasia
GUncertain significance
LBR
Single nucleotide variant
(3 prime UTR variant)
Greenberg dysplasia
GUncertain significance
LBR
Single nucleotide variant
(3 prime UTR variant)
Greenberg dysplasia
GUncertain significance
LBR
Single nucleotide variant
(3 prime UTR variant)
Greenberg dysplasia
GUncertain significance
LBR
Single nucleotide variant
(3 prime UTR variant)
Greenberg dysplasia
GBenign
LBR
Single nucleotide variant
(3 prime UTR variant)
Greenberg dysplasia
GBenign
LBR
(S154N)
Single nucleotide variant
(missense variant)
not provided
+4 more
GBenign
LBR
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign
LBR
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign
LBR
(S537A)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+2 more
GConflicting classifications of pathogenicity
LBR
(R76*)
Single nucleotide variant
(nonsense)
Anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia
+1 more
GPathogenic
LBR
(N547S)
Single nucleotide variant
(missense variant)
Anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia
+3 more
GConflicting classifications of pathogenicity
LBR
(G289E)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
LBR
(Y468fs)
Deletion
(frameshift variant)
Greenberg dysplasia
GPathogenic
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