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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ASIC4-AS1, SPEG
(R2026G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ASIC4-AS1, SPEG
(R2073Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ASIC4-AS1, SPEG
(P2189L)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 5
+2 more
GBenign
ASIC4-AS1, SPEG
(P2232T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ASIC4-AS1, SPEG
(R2769fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
ASIC4-AS1, SPEG
(H3079R)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
GMPPA, ASIC4-AS1
(H162Q)
Single nucleotide variant
(missense variant)
GMPPA-related condition
+3 more
GConflicting classifications of pathogenicity
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