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Items: 1 to 100 of 205

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCC6
Single nucleotide variant
(3 prime UTR variant +1 more)
ABCC6-related disorder
+3 more
GLikely benign
ABCC6
(F1379L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
ABCC6
Single nucleotide variant
(synonymous variant +1 more)
Arterial calcification, generalized, of infancy, 2
+3 more
GLikely benign
ABCC6
(P1483Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Pseudoxanthoma elasticum, forme fruste
+3 more
GUncertain significance
ABCC6
(P1483L +1 more)
Single nucleotide variant
(missense variant +1 more)
ABCC6-related disorder
+4 more
GUncertain significance
ABCC6
(G1481S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
ABCC6
Single nucleotide variant
(intron variant)
not provided
+3 more
GLikely benign
ABCC6, LOC125146421
(R1347H +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive inherited pseudoxanthoma elasticum
+4 more
GUncertain significance
ABCC6, LOC125146421
(R1461C +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive inherited pseudoxanthoma elasticum
+3 more
GUncertain significance
ABCC6, LOC125146421
(R1459C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
ABCC6
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive inherited pseudoxanthoma elasticum
+3 more
GLikely benign
ABCC6
(V1318M +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive inherited pseudoxanthoma elasticum
+3 more
GUncertain significance
ABCC6
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive inherited pseudoxanthoma elasticum
+3 more
GLikely benign
ABCC6
Single nucleotide variant
(synonymous variant +1 more)
Pseudoxanthoma elasticum, forme fruste
+3 more
GBenign/Likely benign
ABCC6
(V1404M +1 more)
Single nucleotide variant
(missense variant +1 more)
Arterial calcification, generalized, of infancy, 2
+3 more
GUncertain significance
ABCC6
(K1394fs +1 more)
Deletion
(frameshift variant +1 more)
Autosomal recessive inherited pseudoxanthoma elasticum
+3 more
GPathogenic
ABCC6
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive inherited pseudoxanthoma elasticum
+3 more
GLikely benign
ABCC6
(T1377M +1 more)
Single nucleotide variant
(missense variant +1 more)
Arterial calcification, generalized, of infancy, 2
+3 more
GUncertain significance
ABCC6
(D1254fs +1 more)
Deletion
(frameshift variant +1 more)
Autosomal recessive inherited pseudoxanthoma elasticum
+3 more
GPathogenic
ABCC6
(R1243Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive inherited pseudoxanthoma elasticum
+3 more
GConflicting classifications of pathogenicity
ABCC6
Single nucleotide variant
(intron variant)
Autosomal recessive inherited pseudoxanthoma elasticum
+3 more
GLikely benign
ABCC6
(R1339H +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive inherited pseudoxanthoma elasticum
+3 more
GPathogenic/Likely pathogenic
ABCC6
(V1333M +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive inherited pseudoxanthoma elasticum
+3 more
GUncertain significance
ABCC6
(I1216fs +1 more)
Duplication
(frameshift variant +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
ABCC6
(G1213R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
ABCC6
(D1212G +1 more)
Single nucleotide variant
(missense variant +1 more)
Arterial calcification, generalized, of infancy, 2
+3 more
GUncertain significance
ABCC6
(R1314W +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GPathogenic
ABCC6
(G1302R +1 more)
Single nucleotide variant
(missense variant +1 more)
Arterial calcification, generalized, of infancy, 2
+3 more
GPathogenic/Likely pathogenic
ABCC6
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive inherited pseudoxanthoma elasticum
+3 more
GLikely benign
ABCC6
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GLikely benign
ABCC6
(G1296D +1 more)
Single nucleotide variant
(missense variant +1 more)
ABCC6-related disorder
+4 more
GPathogenic/Likely pathogenic
ABCC6
Single nucleotide variant
(intron variant)
Autosomal recessive inherited pseudoxanthoma elasticum
+2 more
GUncertain significance
ABCC6
Single nucleotide variant
(intron variant)
Autosomal recessive inherited pseudoxanthoma elasticum
+3 more
GPathogenic/Likely pathogenic
ABCC6
Single nucleotide variant
(intron variant)
Arterial calcification, generalized, of infancy, 2
+3 more
GUncertain significance
ABCC6
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GLikely benign
ABCC6
(V1171M +1 more)
Single nucleotide variant
(missense variant +1 more)
Arterial calcification, generalized, of infancy, 2
+3 more
GUncertain significance
ABCC6
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GLikely benign
ABCC6
(P1165L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
ABCC6
(R1275* +1 more)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive inherited pseudoxanthoma elasticum
+3 more
GPathogenic
ABCC6
(R1268Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Arterial calcification, generalized, of infancy, 2
+3 more
GBenign
ABCC6
(R1268W +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive inherited pseudoxanthoma elasticum
+3 more
GUncertain significance
ABCC6
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GLikely benign
ABCC6
(G1263R +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive inherited pseudoxanthoma elasticum
+3 more
GConflicting classifications of pathogenicity
ABCC6
(W1259fs +1 more)
Duplication
(frameshift variant +1 more)
Arterial calcification, generalized, of infancy, 2
+3 more
GPathogenic
ABCC6
(W1259fs +1 more)
Deletion
(frameshift variant +1 more)
Autosomal recessive inherited pseudoxanthoma elasticum
+3 more
GPathogenic
ABCC6
(P1143H +1 more)
Single nucleotide variant
(missense variant +1 more)
Arterial calcification, generalized, of infancy, 2
+3 more
GUncertain significance
ABCC6
(T1138I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
ABCC6
Single nucleotide variant
(intron variant)
not provided
+3 more
GLikely benign
ABCC6
(R1235W +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive inherited pseudoxanthoma elasticum
+3 more
GPathogenic/Likely pathogenic
ABCC6
(V1231M +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive inherited pseudoxanthoma elasticum
+3 more
GUncertain significance
ABCC6
(S1115N +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive inherited pseudoxanthoma elasticum
+3 more
GUncertain significance
ABCC6
(R1221H +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive inherited pseudoxanthoma elasticum
+3 more
GPathogenic
ABCC6
(R1221C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GPathogenic/Likely pathogenic
ABCC6
(H1082D +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
ABCC6
Single nucleotide variant
(synonymous variant +1 more)
Arterial calcification, generalized, of infancy, 2
+3 more
GLikely benign
ABCC6
Single nucleotide variant
(splice acceptor variant)
not provided
+3 more
GPathogenic
ABCC6
Single nucleotide variant
(intron variant)
Arterial calcification, generalized, of infancy, 2
+5 more
GBenign/Likely benign
ABCC6
Single nucleotide variant
(intron variant)
not provided
+3 more
GLikely benign
ABCC6
Single nucleotide variant
(intron variant)
Autosomal recessive inherited pseudoxanthoma elasticum
+3 more
GLikely benign
ABCC6
Single nucleotide variant
(intron variant)
not provided
+3 more
GLikely benign
ABCC6
Single nucleotide variant
(intron variant)
Autosomal recessive inherited pseudoxanthoma elasticum
+3 more
GBenign/Likely benign
ABCC6
(R1164Q +1 more)
Single nucleotide variant
(missense variant)
Arterial calcification, generalized, of infancy, 2
+4 more
GPathogenic/Likely pathogenic
ABCC6
(R1164* +1 more)
Single nucleotide variant
(nonsense)
See cases
+4 more
GPathogenic
ABCC6
(P1163L +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive inherited pseudoxanthoma elasticum
+4 more
GUncertain significance
ABCC6
Single nucleotide variant
(synonymous variant)
Autosomal recessive inherited pseudoxanthoma elasticum
+3 more
GLikely benign
ABCC6
(V1154I +1 more)
Single nucleotide variant
(missense variant)
Pseudoxanthoma elasticum, forme fruste
+3 more
GUncertain significance
ABCC6
(R1039H +1 more)
Single nucleotide variant
(missense variant)
Arterial calcification, generalized, of infancy, 2
+4 more
GConflicting classifications of pathogenicity
ABCC6
(R1039C +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive inherited pseudoxanthoma elasticum
+3 more
GUncertain significance
ABCC6
(A1144V +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive inherited pseudoxanthoma elasticum
+3 more
GUncertain significance
ABCC6
(R1141Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GLikely benign
ABCC6
(R1141* +1 more)
Single nucleotide variant
(nonsense)
Autosomal recessive inherited pseudoxanthoma elasticum
+7 more
GPathogenic
ABCC6
(R1138Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
ABCC6
(R1138W +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic
ABCC6
Single nucleotide variant
(synonymous variant)
Autosomal recessive inherited pseudoxanthoma elasticum
+3 more
GLikely benign
ABCC6
(T1130M +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
ABCC6
(M1127I +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive inherited pseudoxanthoma elasticum
+3 more
GConflicting classifications of pathogenicity
ABCC6
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
ABCC6
(R1114H +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive inherited pseudoxanthoma elasticum
+3 more
GPathogenic/Likely pathogenic
ABCC6
(R1114C +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive inherited pseudoxanthoma elasticum
+3 more
GPathogenic/Likely pathogenic
ABCC6
(S1109L +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ABCC6
(V1107A +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ABCC6
(L1097I +1 more)
Single nucleotide variant
(missense variant +1 more)
Pseudoxanthoma elasticum, forme fruste
+3 more
GBenign/Likely benign
ABCC6
(R1064W +1 more)
Single nucleotide variant
(missense variant +1 more)
Pseudoxanthoma elasticum, forme fruste
+4 more
GBenign/Likely benign
ABCC6
(S1049A +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive inherited pseudoxanthoma elasticum
+3 more
GUncertain significance
ABCC6
(F1036del +1 more)
Deletion
(inframe_deletion +1 more)
Autosomal recessive inherited pseudoxanthoma elasticum
+3 more
GUncertain significance
ABCC6
(R1015W +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
ABCC6
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GLikely benign
ABCC6
(G989R +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive inherited pseudoxanthoma elasticum
+3 more
GUncertain significance
ABCC6
(D860E +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
ABCC6
(R964P +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive inherited pseudoxanthoma elasticum
+3 more
GUncertain significance
ABCC6
(S961F +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
ABCC6
(L946I +1 more)
Single nucleotide variant
(missense variant +1 more)
Pseudoxanthoma elasticum, forme fruste
+4 more
GBenign/Likely benign
ABCC6
Single nucleotide variant
(splice donor variant)
not provided
+4 more
GPathogenic/Likely pathogenic
ABCC6
(G928S +1 more)
Single nucleotide variant
(missense variant +1 more)
Arterial calcification, generalized, of infancy, 2
+3 more
GUncertain significance
ABCC6
Single nucleotide variant
(synonymous variant +1 more)
ABCC6-related disorder
+4 more
GBenign/Likely benign
ABCC6
(E789Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Arterial calcification, generalized, of infancy, 2
+3 more
GBenign/Likely benign
ABCC6
(R899C +1 more)
Single nucleotide variant
(missense variant +1 more)
ABCC6-related disorder
+4 more
GLikely benign
ABCC6
(E782K +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive inherited pseudoxanthoma elasticum
+3 more
GUncertain significance
ABCC6
(R887H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
ABCC6
(R887C +1 more)
Single nucleotide variant
(missense variant +1 more)
Arterial calcification, generalized, of infancy, 2
+3 more
GBenign/Likely benign
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