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Items: 26

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCC6
(R1339C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
ABCC6
(G1302R +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive inherited pseudoxanthoma elasticum
+3 more
GPathogenic/Likely pathogenic
ABCC6
Deletion
(splice acceptor variant)
not provided
GLikely pathogenic
ABCC6
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive inherited pseudoxanthoma elasticum
+1 more
GPathogenic
ABCC6
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive inherited pseudoxanthoma elasticum
+3 more
GPathogenic
ABCC6
Deletion
(splice donor variant)
not provided
GPathogenic
ABCC6
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic/Likely pathogenic
ABCC6
(R1164* +1 more)
Single nucleotide variant
(nonsense)
not provided
+4 more
GPathogenic
ABCC6
(R1141* +1 more)
Single nucleotide variant
(nonsense)
ABCC6-related disorder
+7 more
GPathogenic
ABCC6
(R1138W +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
ABCC6
(V1076F +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
ABCC6
(R1030* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic/Likely pathogenic
ABCC6
(L953H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ABCC6
Single nucleotide variant
(splice donor variant)
Arterial calcification, generalized, of infancy, 2
+3 more
GPathogenic
ABCC6
(R765Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive inherited pseudoxanthoma elasticum
+1 more
GPathogenic
ABCC6
(R760W +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive inherited pseudoxanthoma elasticum
+3 more
GPathogenic/Likely pathogenic
ABCC6
(I632fs +1 more)
Indel
(frameshift variant +1 more)
not provided
GLikely pathogenic
ABCC6
(E709K +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ABCC6
(S503* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GLikely pathogenic
ABCC6
(T489fs +1 more)
Duplication
(frameshift variant +1 more)
not provided
GPathogenic
ABCC6
(S476F +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
ABCC6
(F568S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ABCC6
(V553I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ABCC6
(V514I +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive inherited pseudoxanthoma elasticum
+4 more
GConflicting classifications of pathogenicity
ABCC6
(R419Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive inherited pseudoxanthoma elasticum
+3 more
GPathogenic/Likely pathogenic
ABCC6
(R183fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
GLikely pathogenic
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