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Links from MedGen

Items: 32

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MRPS22
Single nucleotide variant
(splice donor variant)
Hypotonia with lactic acidemia and hyperammonemia
GPathogenic
MRPS22
(D144Y +2 more)
Single nucleotide variant
(missense variant)
Hypotonia with lactic acidemia and hyperammonemia
GUncertain significance
MRPS22
(Q315* +2 more)
Single nucleotide variant
(nonsense)
Hypotonia with lactic acidemia and hyperammonemia
GUncertain significance
MRPS22
(I120fs +2 more)
Duplication
(frameshift variant)
Hypotonia with lactic acidemia and hyperammonemia
GLikely pathogenic
MRPS22
(F290fs +2 more)
Deletion
(frameshift variant)
Hypotonia with lactic acidemia and hyperammonemia
GLikely pathogenic
MRPS22
(I212T +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MRPS22
(E159D +2 more)
Single nucleotide variant
(missense variant)
Hypotonia with lactic acidemia and hyperammonemia
GUncertain significance
MRPS22
(D291fs +2 more)
Microsatellite
(frameshift variant)
Hypotonia with lactic acidemia and hyperammonemia
GPathogenic
MRPS22
(M105I +2 more)
Single nucleotide variant
(missense variant)
Hypotonia with lactic acidemia and hyperammonemia
GUncertain significance
LOC112903839, MRPS22
(M46T)
Single nucleotide variant
(missense variant)
Hypotonia with lactic acidemia and hyperammonemia
+1 more
GUncertain significance
LOC112903839, MRPS22
(E56K)
Single nucleotide variant
(missense variant)
Hypotonia with lactic acidemia and hyperammonemia
+1 more
GUncertain significance
LOC112903839, MRPS22
(R22G)
Single nucleotide variant
(missense variant)
Hypotonia with lactic acidemia and hyperammonemia
GUncertain significance
MRPS22
Single nucleotide variant
(intron variant)
Hypotonia with lactic acidemia and hyperammonemia
GUncertain significance
LOC112903839, MRPS22
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MRPS22
(L346fs +2 more)
Duplication
(frameshift variant)
Hypotonia with lactic acidemia and hyperammonemia
+1 more
GConflicting classifications of pathogenicity
MRPS22
(Y349N +2 more)
Single nucleotide variant
(missense variant)
Hypotonia with lactic acidemia and hyperammonemia
GUncertain significance
MRPS22
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GUncertain significance
MRPS22
(M218V +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MRPS22
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MRPS22
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
LOC112903839, MRPS22
Single nucleotide variant
(intron variant)
Hypotonia with lactic acidemia and hyperammonemia
GUncertain significance
LOC112903839, MRPS22
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GConflicting classifications of pathogenicity
MRPS22
(R168W +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MRPS22
(R263C +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
MRPS22
(T206I +2 more)
Single nucleotide variant
(missense variant)
MRPS22-related disorder
+2 more
GConflicting classifications of pathogenicity
MRPS22
(S313L +2 more)
Single nucleotide variant
(missense variant)
MRPS22-related disorder
+2 more
GConflicting classifications of pathogenicity
MRPS22
(H247Q +2 more)
Single nucleotide variant
(missense variant)
MRPS22-related disorder
+2 more
GBenign/Likely benign
MRPS22
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
MRPS22
(I95L +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
MRPS22
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
MRPS22
(L215P +2 more)
Single nucleotide variant
(missense variant)
Hypotonia with lactic acidemia and hyperammonemia
GPathogenic
MRPS22
(R170H +2 more)
Single nucleotide variant
(missense variant)
Hypotonia with lactic acidemia and hyperammonemia
+2 more
GPathogenic/Likely pathogenic
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