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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LARS2
(M117I)
Single nucleotide variant
(missense variant)
Perrault syndrome
Gnot provided
LARS2
(E294K)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
LARS2, LARS2-AS1
(I360fs)
Deletion
(frameshift variant)
Perrault syndrome 4
GPathogenic
LARS2, LARS2-AS1
(R453Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LARS2, LARS2-AS1
(T519M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LARS2, LARS2-AS1
(T522N)
Single nucleotide variant
(missense variant)
Rare genetic deafness
+3 more
GPathogenic/Likely pathogenic
LARS2
(T629M)
Single nucleotide variant
(missense variant)
Nonsyndromic genetic hearing loss
GPathogenic
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