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Links from MedGen

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCB6
Single nucleotide variant
(intron variant)
Familial pseudohyperkalemia
+5 more
GBenign/Likely benign
ABCB6
(V408A +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GBenign/Likely benign
ABCB6
Single nucleotide variant
(splice acceptor variant)
Langereis blood group
GAffects
ABCB6
(A327fs +1 more)
Microsatellite
(frameshift variant)
Langereis blood group
GAffects
ABCB6
(R375W +1 more)
Single nucleotide variant
(missense variant)
Langereis blood group
+3 more
GLikely pathogenic
ABCB6
(R192W)
Single nucleotide variant
(missense variant +1 more)
Acute intermittent porphyria
+4 more
GBenign/Likely benign
ABCB6
Single nucleotide variant
(splice donor variant)
Langereis blood group
GAffects
ABCB6
(L616fs +1 more)
Microsatellite
(frameshift variant)
Langereis blood group
GAffects
ABCB6
(R648* +1 more)
Single nucleotide variant
(nonsense)
Langereis blood group
GAffects
ABCB6
(M518fs +1 more)
Deletion
(frameshift variant)
Langereis blood group
GAffects
ABCB6
(W239* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
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