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Links from MedGen

Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IARS2
(V331I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
IARS2
Deletion
(intron variant)
not provided
+1 more
GBenign
IARS2
Duplication
(intron variant)
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
+1 more
GBenign/Likely benign
IARS2
(R201C)
Single nucleotide variant
(missense variant)
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
GUncertain significance
IARS2
(S339F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
IARS2
(D419N)
Single nucleotide variant
(missense variant)
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
GUncertain significance
IARS2
(H761R)
Single nucleotide variant
(missense variant)
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
GPathogenic
IARS2
(P909S)
Single nucleotide variant
(missense variant)
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
GPathogenic
IARS2
(R817H)
Single nucleotide variant
(missense variant)
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
GPathogenic
IARS2
(F227S)
Single nucleotide variant
(missense variant)
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
GPathogenic
IARS2
(G874R)
Single nucleotide variant
(missense variant)
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
GPathogenic
IARS2
(I502L)
Single nucleotide variant
(missense variant)
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
GUncertain significance
IARS2
(P909L)
Single nucleotide variant
(missense variant)
partial sensorineural deafness
+4 more
GPathogenic
IARS2
(E708K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GLikely benign
IARS2
(W607*)
Single nucleotide variant
(nonsense)
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
GUncertain significance
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