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Links from MedGen

Items: 97

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OSTM1
Single nucleotide variant
(synonymous variant)
Autosomal recessive osteopetrosis 5
+1 more
GConflicting classifications of pathogenicity
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GUncertain significance
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GUncertain significance
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GUncertain significance
LOC129996933, OSTM1
(P3L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
LOC129996933, OSTM1
(W17G)
Single nucleotide variant
(missense variant)
Autosomal recessive osteopetrosis 5
+1 more
GConflicting classifications of pathogenicity
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GUncertain significance
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GUncertain significance
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GUncertain significance
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GUncertain significance
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GLikely benign
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GUncertain significance
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GUncertain significance
OSTM1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
OSTM1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
OSTM1
(S94G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GUncertain significance
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GUncertain significance
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GUncertain significance
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GUncertain significance
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GUncertain significance
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GUncertain significance
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GUncertain significance
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GUncertain significance
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GLikely benign
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GUncertain significance
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GUncertain significance
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GUncertain significance
OSTM1
(F162fs)
Deletion
(frameshift variant)
Autosomal recessive osteopetrosis 5
GPathogenic
OSTM1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
OSTM1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
OSTM1
Single nucleotide variant
(synonymous variant)
Autosomal recessive osteopetrosis 5
+1 more
GBenign/Likely benign
OSTM1
(R266*)
Single nucleotide variant
(nonsense)
Autosomal recessive osteopetrosis 5
GUncertain significance
OSTM1
(V109M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
OSTM1
Single nucleotide variant
(intron variant)
Autosomal recessive osteopetrosis 5
GPathogenic
LOC129996933, OSTM1
Single nucleotide variant
(5 prime UTR variant)
Autosomal recessive osteopetrosis 5
GUncertain significance
LOC129996933, OSTM1
Single nucleotide variant
(5 prime UTR variant)
Autosomal recessive osteopetrosis 5
GUncertain significance
LOC129996933, OSTM1
Single nucleotide variant
(synonymous variant)
Autosomal recessive osteopetrosis 5
+2 more
GConflicting classifications of pathogenicity
OSTM1
(L52F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
OSTM1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
OSTM1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
OSTM1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
OSTM1
Single nucleotide variant
(intron variant)
Autosomal recessive osteopetrosis 5
+1 more
GConflicting classifications of pathogenicity
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GUncertain significance
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GUncertain significance
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GUncertain significance
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GBenign
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GUncertain significance
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GBenign
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GBenign
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GUncertain significance
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GUncertain significance
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GUncertain significance
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GUncertain significance
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GUncertain significance
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GBenign
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GBenign
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GBenign
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GUncertain significance
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GBenign
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GBenign
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GBenign
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GUncertain significance
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GBenign
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GBenign
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GUncertain significance
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GUncertain significance
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GBenign
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GUncertain significance
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GBenign
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GUncertain significance
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GBenign
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GBenign
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GUncertain significance
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GUncertain significance
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GBenign
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GBenign
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GUncertain significance
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GBenign
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GBenign
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GUncertain significance
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GUncertain significance
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GBenign
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GBenign
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GUncertain significance
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GUncertain significance
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GBenign
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GUncertain significance
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GLikely benign
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GBenign
OSTM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive osteopetrosis 5
GBenign
OSTM1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
OSTM1
(Q140fs)
Microsatellite
(frameshift variant)
not provided
+1 more
GPathogenic
LOC129996933, OSTM1
(D45G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
OSTM1
(P74R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
LOC129996933, OSTM1
(C12*)
Single nucleotide variant
(nonsense)
Autosomal recessive osteopetrosis 5
GPathogenic
OSTM1
Single nucleotide variant
(intron variant)
Autosomal recessive osteopetrosis 5
GPathogenic
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