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Links from MedGen

Items: 76

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129993734, RETREG1
+1 more
(E12*)
Single nucleotide variant
(nonsense)
Neuropathy, hereditary sensory and autonomic, type 2B
+1 more
GPathogenic
LOC129993734, RETREG1
+1 more
(A35fs)
Deletion
(frameshift variant)
Neuropathy, hereditary sensory and autonomic, type 2B
GPathogenic
RETREG1
(E118* +1 more)
Single nucleotide variant
(nonsense)
Neuropathy, hereditary sensory and autonomic, type 2B
GLikely pathogenic
RETREG1
(G211R +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2B
+1 more
GUncertain significance
RETREG1
Single nucleotide variant
(intron variant)
Neuropathy, hereditary sensory and autonomic, type 2B
+1 more
GBenign
LOC129993734, RETREG1
+1 more
(A19S)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2B
GUncertain significance
RETREG1
Single nucleotide variant
(splice donor variant)
Neuropathy, hereditary sensory and autonomic, type 2B
GPathogenic
LOC129993734, RETREG1
+1 more
(P4S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
RETREG1
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, hereditary sensory and autonomic, type 2B
GUncertain significance
RETREG1
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, hereditary sensory and autonomic, type 2B
GBenign
LOC129993734, RETREG1
+1 more
(A32P)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2B
+2 more
GUncertain significance
LOC129993734, RETREG1
+1 more
(G54R)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2B
GUncertain significance
RETREG1, RETREG1-AS1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
RETREG1, RETREG1-AS1
(F99L)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2B
GUncertain significance
RETREG1
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, hereditary sensory and autonomic, type 2B
GUncertain significance
RETREG1
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, hereditary sensory and autonomic, type 2B
GUncertain significance
RETREG1
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, hereditary sensory and autonomic, type 2B
GUncertain significance
RETREG1
Single nucleotide variant
(intron variant)
Neuropathy, hereditary sensory and autonomic, type 2B
GUncertain significance
RETREG1
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, hereditary sensory and autonomic, type 2B
GLikely benign
RETREG1
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, hereditary sensory and autonomic, type 2B
GUncertain significance
RETREG1
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, hereditary sensory and autonomic, type 2B
GUncertain significance
RETREG1
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, hereditary sensory and autonomic, type 2B
GUncertain significance
RETREG1
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, hereditary sensory and autonomic, type 2B
GUncertain significance
LOC129993734, RETREG1
+1 more
Single nucleotide variant
Neuropathy, hereditary sensory and autonomic, type 2B
GUncertain significance
RETREG1
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory and autonomic, type 2B
+1 more
GConflicting classifications of pathogenicity
RETREG1
(T318N +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2B
GUncertain significance
RETREG1
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, hereditary sensory and autonomic, type 2B
GUncertain significance
RETREG1
Single nucleotide variant
(synonymous variant)
RETREG1-related condition
+2 more
GConflicting classifications of pathogenicity
RETREG1
Single nucleotide variant
(intron variant)
Neuropathy, hereditary sensory and autonomic, type 2B
+1 more
GBenign
RETREG1
(R268T +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
RETREG1
(T390M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
RETREG1
(S281G +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RETREG1-AS1, LOC129993734
+1 more
Duplication
not provided
GUncertain significance
RETREG1
(D333E +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2B
GUncertain significance
RETREG1, LOC129993734
+1 more
(P29L)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2B
+2 more
GConflicting classifications of pathogenicity
LOC129993734, RETREG1
+1 more
(P6L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
LOC129993734, RETREG1
+1 more
(E8Q)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2B
+2 more
GUncertain significance
RETREG1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
RETREG1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
RETREG1
(T473R +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2B
+1 more
GUncertain significance
RETREG1
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
RETREG1
(R127H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
RETREG1
(R127C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GBenign/Likely benign
LOC129993734, RETREG1
+1 more
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory and autonomic, type 2B
GUncertain significance
LOC129993734, RETREG1
+1 more
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
LOC129993734, RETREG1
+1 more
(E8K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
RETREG1
Single nucleotide variant
(intron variant)
Neuropathy, hereditary sensory and autonomic, type 2B
GUncertain significance
RETREG1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
RETREG1
(R148G)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2B
GUncertain significance
RETREG1
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory and autonomic, type 2B
+1 more
GConflicting classifications of pathogenicity
RETREG1
(R266C +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2B
+2 more
GUncertain significance
RETREG1
Single nucleotide variant
(intron variant)
Neuropathy, hereditary sensory and autonomic, type 2B
+1 more
GUncertain significance
RETREG1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
RETREG1
(P338L +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2B
+2 more
GUncertain significance
RETREG1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
RETREG1
(Q434E +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2B
GUncertain significance
RETREG1
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, hereditary sensory and autonomic, type 2B
GUncertain significance
RETREG1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
RETREG1
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, hereditary sensory and autonomic, type 2B
GUncertain significance
RETREG1
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, hereditary sensory and autonomic, type 2B
GBenign
RETREG1
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, hereditary sensory and autonomic, type 2B
GUncertain significance
RETREG1
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, hereditary sensory and autonomic, type 2B
GUncertain significance
RETREG1
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, hereditary sensory and autonomic, type 2B
GBenign
RETREG1
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, hereditary sensory and autonomic, type 2B
GUncertain significance
RETREG1
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, hereditary sensory and autonomic, type 2B
GLikely benign
RETREG1
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, hereditary sensory and autonomic, type 2B
GUncertain significance
LOC129993734, RETREG1
+1 more
Single nucleotide variant
(5 prime UTR variant)
Neuropathy, hereditary sensory and autonomic, type 2B
+1 more
GBenign
RETREG1
(V203M +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GLikely benign
RETREG1
(S276fs +1 more)
Deletion
(frameshift variant)
Hereditary sensory and autonomic neuropathy type 2
+2 more
GConflicting classifications of pathogenicity
RETREG1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
RETREG1
Single nucleotide variant
(splice donor variant)
Neuropathy, hereditary sensory and autonomic, type 2B
+2 more
GConflicting classifications of pathogenicity
LOC129993734, RETREG1
+1 more
(P7fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
RETREG1
(S382T +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2B
+2 more
GBenign
RETREG1
(Q379E +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
RETREG1
(Q145*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
RETREG1
(S309* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
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