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Links from MedGen

Items: 1 to 100 of 320

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RMRP
Insertion
Metaphyseal chondrodysplasia, McKusick type
GLikely pathogenic
RMRP
Insertion
Metaphyseal chondrodysplasia, McKusick type
GPathogenic
RMRP
Single nucleotide variant
Metaphyseal chondrodysplasia, McKusick type
+1 more
GUncertain significance
RMRP
Single nucleotide variant
Metaphyseal chondrodysplasia, McKusick type
+3 more
GUncertain significance
RMRP
Duplication
Metaphyseal chondrodysplasia, McKusick type
GLikely pathogenic
RMRP
Duplication
Metaphyseal chondrodysplasia, McKusick type
GLikely pathogenic
RMRP
Microsatellite
Metaphyseal chondrodysplasia, McKusick type
+1 more
GPathogenic/Likely pathogenic
RMRP
Single nucleotide variant
Metaphyseal chondrodysplasia, McKusick type
GUncertain significance
RMRP
Duplication
Metaphyseal chondrodysplasia, McKusick type
GLikely pathogenic
RMRP
Microsatellite
Metaphyseal chondrodysplasia, McKusick type
GLikely pathogenic
RMRP
Single nucleotide variant
Anauxetic dysplasia
+3 more
GUncertain significance
RMRP
Duplication
Anauxetic dysplasia 1
+3 more
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia 1
+3 more
GUncertain significance
RMRP
Duplication
Anauxetic dysplasia
+1 more
GPathogenic
RMRP
Single nucleotide variant
Anauxetic dysplasia
+3 more
GUncertain significance
RMRP
Indel
Metaphyseal chondrodysplasia, McKusick type
GLikely pathogenic
RMRP
Duplication
not provided
+2 more
GPathogenic/Likely pathogenic
RMRP
Single nucleotide variant
Anauxetic dysplasia
+1 more
GBenign
RMRP
Single nucleotide variant
Anauxetic dysplasia
+3 more
GPathogenic/Likely pathogenic
RMRP
Microsatellite
Anauxetic dysplasia
+1 more
GPathogenic/Likely pathogenic
RMRP
Duplication
Anauxetic dysplasia
GPathogenic
RMRP
Duplication
Anauxetic dysplasia
GLikely pathogenic
RMRP
Duplication
Anauxetic dysplasia
+2 more
GPathogenic/Likely pathogenic
RMRP
Duplication
Metaphyseal chondrodysplasia, McKusick type
+1 more
GLikely pathogenic
RMRP
Single nucleotide variant
Anauxetic dysplasia
+1 more
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia
+3 more
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia
GUncertain significance
RMRP
Single nucleotide variant
not specified
+1 more
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia
+3 more
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia
GUncertain significance
RMRP
Single nucleotide variant
Metaphyseal chondrodysplasia, McKusick type
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia
+3 more
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia
GUncertain significance
RMRP
Microsatellite
Metaphyseal chondrodysplasia, McKusick type
GLikely pathogenic
RMRP
Duplication
Metaphyseal chondrodysplasia, McKusick type
GLikely pathogenic
RMRP
Insertion
Metaphyseal chondrodysplasia, McKusick type
GLikely pathogenic
RMRP
Insertion
Metaphyseal chondrodysplasia, McKusick type
GLikely pathogenic
RMRP
Duplication
Anauxetic dysplasia
+3 more
GLikely pathogenic
RMRP
Duplication
Metaphyseal chondrodysplasia, McKusick type
GLikely pathogenic
RMRP
Single nucleotide variant
Anauxetic dysplasia
GUncertain significance
RMRP
Single nucleotide variant
not provided
+1 more
GUncertain significance
RMRP
Deletion
Anauxetic dysplasia
GUncertain significance
RMRP
Duplication
Anauxetic dysplasia
GPathogenic
RMRP
Single nucleotide variant
Anauxetic dysplasia
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia 1
+3 more
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia 1
+3 more
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia
GUncertain significance
RMRP
Single nucleotide variant
Metaphyseal chondrodysplasia, McKusick type
+1 more
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia
GUncertain significance
RMRP
Single nucleotide variant
not specified
+1 more
GUncertain significance
RMRP
Duplication
Anauxetic dysplasia
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia 1
+3 more
GUncertain significance
RMRP
Duplication
Metaphyseal chondrodysplasia, McKusick type
+1 more
GConflicting classifications of pathogenicity
RMRP
Duplication
Metaphyseal chondrodysplasia, McKusick type
+1 more
GPathogenic/Likely pathogenic
RMRP
Duplication
Anauxetic dysplasia
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia 1
+3 more
GUncertain significance
RMRP
Insertion
Anauxetic dysplasia
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia
+3 more
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia
GUncertain significance
RMRP
Deletion
Anauxetic dysplasia
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia
GUncertain significance
RMRP
Duplication
Anauxetic dysplasia
+1 more
GPathogenic/Likely pathogenic
RMRP
Duplication
Anauxetic dysplasia
+1 more
GPathogenic/Likely pathogenic
RMRP
Duplication
Anauxetic dysplasia
+1 more
GPathogenic/Likely pathogenic
RMRP
Single nucleotide variant
Anauxetic dysplasia
+3 more
GPathogenic/Likely pathogenic
RMRP
Single nucleotide variant
Anauxetic dysplasia
+1 more
GPathogenic
RMRP
Insertion
Metaphyseal chondrodysplasia, McKusick type
GLikely pathogenic
RMRP
Duplication
Metaphyseal chondrodysplasia, McKusick type
+1 more
GPathogenic/Likely pathogenic
RMRP
Duplication
Metaphyseal chondrodysplasia, McKusick type
+1 more
GConflicting classifications of pathogenicity
RMRP
Insertion
Metaphyseal chondrodysplasia, McKusick type
GLikely pathogenic
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Sort by
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