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Items: 27

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
HSD17B4, LOC129994460
(G16S)
Single nucleotide variant
(missense variant +1 more)
HSD17B4-Related Disorders
+5 more
GConflicting classifications of pathogenicity
HSD17B4
(V82F +3 more)
Single nucleotide variant
(missense variant +2 more)
Perrault syndrome
Gnot provided
HSD17B4
(A100S +3 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Bifunctional peroxisomal enzyme deficiency
+1 more
GConflicting classifications of pathogenicity
HSD17B4
(Y217C +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HSD17B4
(Y428* +4 more)
Single nucleotide variant
(nonsense)
Bifunctional peroxisomal enzyme deficiency
+2 more
GPathogenic
HARS2
(L200V +4 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
HARS2
(Y343C +4 more)
Single nucleotide variant
(missense variant)
Perrault syndrome
Gnot provided
HARS2
(V368L +4 more)
Single nucleotide variant
(missense variant)
Perrault syndrome 2
GPathogenic/Likely pathogenic
TWNK
(R265C)
Single nucleotide variant
(missense variant +2 more)
Mitochondrial disease
+4 more
GConflicting classifications of pathogenicity
TWNK
(R323Q)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
TWNK
(R391H)
Single nucleotide variant
(missense variant +2 more)
Infantile onset spinocerebellar ataxia
+4 more
GConflicting classifications of pathogenicity
TWNK
(N399S)
Single nucleotide variant
(missense variant +2 more)
Autosomal recessive cerebellar ataxia
+4 more
GConflicting classifications of pathogenicity
TWNK
(W441G)
Single nucleotide variant
(missense variant +2 more)
not provided
GPathogenic
TWNK
(V507I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
TWNK
(N585S +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GPathogenic
TWNK
(R147Q +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
+1 more
GUncertain significance
ERAL1, LOC126862526
(N236I +1 more)
Single nucleotide variant
(missense variant +1 more)
Perrault syndrome 6
GPathogenic
CLPP, LOC130063288
Single nucleotide variant
(intron variant)
Perrault syndrome 3
+1 more
GPathogenic
CLPP
(T145P)
Single nucleotide variant
(missense variant)
Perrault syndrome 3
GPathogenic
CLPP
(C147S)
Single nucleotide variant
(missense variant)
Perrault syndrome 3
GPathogenic
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