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Links from MedGen

Items: 58

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RMRP
Single nucleotide variant
Metaphyseal chondrodysplasia, McKusick type
+3 more
GUncertain significance
RMRP
Indel
Metaphyseal dysplasia without hypotrichosis
GPathogenic
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
+3 more
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia
+3 more
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia
+3 more
GPathogenic/Likely pathogenic
RMRP
Single nucleotide variant
Anauxetic dysplasia 1
+3 more
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia
+3 more
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia
+3 more
GUncertain significance
RMRP
Duplication
Anauxetic dysplasia
+3 more
GLikely pathogenic
RMRP
Single nucleotide variant
Anauxetic dysplasia 1
+3 more
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia
+3 more
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
+3 more
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia
+3 more
GPathogenic/Likely pathogenic
RMRP
Single nucleotide variant
Anauxetic dysplasia 1
+4 more
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia 1
+3 more
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia
+3 more
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia
+4 more
GBenign/Likely benign
RMRP
Single nucleotide variant
Anauxetic dysplasia 1
+3 more
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia 1
+4 more
GUncertain significance
RMRP
Duplication
Metaphyseal chondrodysplasia, McKusick type
+3 more
GPathogenic/Likely pathogenic
RMRP
Single nucleotide variant
Anauxetic dysplasia 1
+3 more
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia
+2 more
GPathogenic
RMRP
Duplication
Metaphyseal chondrodysplasia, McKusick type
+3 more
GPathogenic/Likely pathogenic
RMRP
Single nucleotide variant
Anauxetic dysplasia
+3 more
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia 1
+3 more
GPathogenic/Likely pathogenic
RMRP
Single nucleotide variant
Metaphyseal chondrodysplasia, McKusick type
+1 more
GPathogenic/Likely pathogenic
RMRP
Single nucleotide variant
Anauxetic dysplasia
+3 more
GUncertain significance
RMRP
Duplication
Metaphyseal chondrodysplasia, McKusick type
+3 more
GLikely pathogenic
RMRP
Duplication
Anauxetic dysplasia 1
+3 more
GPathogenic/Likely pathogenic
RMRP
Duplication
Metaphyseal chondrodysplasia, McKusick type
+2 more
GUncertain significance
RMRP
Duplication
Anauxetic dysplasia 1
+3 more
GPathogenic/Likely pathogenic
RMRP
Single nucleotide variant
not provided
+4 more
GPathogenic/Likely pathogenic
RMRP
Single nucleotide variant
Metaphyseal chondrodysplasia, McKusick type
+4 more
GUncertain significance
RMRP
Single nucleotide variant
not provided
+3 more
GUncertain significance
RMRP
Duplication
Metaphyseal chondrodysplasia, McKusick type
+3 more
GPathogenic/Likely pathogenic
RMRP
Microsatellite
Metaphyseal chondrodysplasia, McKusick type
+3 more
GUncertain significance
RMRP
Single nucleotide variant
Metaphyseal chondrodysplasia, McKusick type
GUncertain significance
RMRP
Duplication
Metaphyseal chondrodysplasia, McKusick type
+3 more
GPathogenic/Likely pathogenic
RMRP
Single nucleotide variant
Metaphyseal chondrodysplasia, McKusick type
+3 more
GUncertain significance
RMRP
Single nucleotide variant
Metaphyseal chondrodysplasia, McKusick type
+3 more
GPathogenic/Likely pathogenic
RMRP
Single nucleotide variant
Anauxetic dysplasia 1
+3 more
GPathogenic/Likely pathogenic
RMRP
Duplication
Anauxetic dysplasia
+3 more
GPathogenic/Likely pathogenic
RMRP
Deletion
Anauxetic dysplasia
+4 more
GConflicting classifications of pathogenicity
RMRP
Single nucleotide variant
Anauxetic dysplasia
+6 more
GConflicting classifications of pathogenicity
RMRP
Single nucleotide variant
not specified
+5 more
GUncertain significance
RMRP
Single nucleotide variant
Anauxetic dysplasia
+5 more
GPathogenic
RMRP
Single nucleotide variant
Anauxetic dysplasia
+4 more
GPathogenic/Likely pathogenic
RMRP
Insertion
Anauxetic dysplasia
+1 more
GPathogenic/Likely pathogenic
RMRP
Microsatellite
Metaphyseal dysplasia without hypotrichosis
GPathogenic
RMRP
Duplication
Anauxetic dysplasia
+4 more
GPathogenic
RMRP
Duplication
Anauxetic dysplasia
+4 more
GPathogenic/Likely pathogenic
RMRP
Duplication
Anauxetic dysplasia
+3 more
GPathogenic/Likely pathogenic
RMRP
Single nucleotide variant
Metaphyseal chondrodysplasia, McKusick type
+3 more
GPathogenic
CCDC107, RMRP
Single nucleotide variant
(non-coding transcript variant)
Anauxetic dysplasia
+5 more
GPathogenic/Likely pathogenic
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