U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from Gene

Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HARS2, LOC119407423
(R32L)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
HARS2, LOC119407423
(Q34K)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
HARS2, LOC119407423
(S26A)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
HARS2, LOC119407423
Deletion
(inframe_indel +2 more)
not provided
GUncertain significance
HARS2, LOC119407423
(R32G)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
HARS2, LOC119407423
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
HARS2, LOC119407423
(C24fs)
Deletion
(frameshift variant +2 more)
not provided
GPathogenic
HARS1, LOC119407423
Indel
(5 prime UTR variant)
not provided
GUncertain significance
HARS2, LOC119407423
(C24*)
Single nucleotide variant
(nonsense +2 more)
Sensorineural hearing loss disorder
GLikely pathogenic
LOC119407423, HARS2
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
LOC119407423, HARS2
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GLikely benign
HARS1, HARS2
+1 more
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
HARS2, LOC119407423
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
LOC119407423, HARS2
(L3V)
Single nucleotide variant
(missense variant +2 more)
not specified
+1 more
GConflicting classifications of pathogenicity
Format
Items per page
Sort by
Choose Destination