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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GPSM2
(P162fs)
Deletion
(frameshift variant)
Inborn genetic diseases
+1 more
GPathogenic
GPSM2
(A199V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPSM2
(G249fs)
Deletion
(frameshift variant)
Rare genetic deafness
+3 more
GPathogenic/Likely pathogenic
GPSM2
(T461I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPSM2
(L496I)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
CLCC1, GPSM2
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
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