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Links from MedGen

Items: 1 to 100 of 554

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCC6
(G1086S +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive inherited pseudoxanthoma elasticum
GLikely pathogenic
ABCC1, ABCC6
+6 more
Copy number loss
Autosomal recessive inherited pseudoxanthoma elasticum
GPathogenic
ABCC6
(E565* +1 more)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive inherited pseudoxanthoma elasticum
GPathogenic
ABCC6
(R412W +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive inherited pseudoxanthoma elasticum
+1 more
GUncertain significance
ABCC6
Microsatellite
(intron variant)
Autosomal recessive inherited pseudoxanthoma elasticum
GLikely benign
ABCC6
(P799fs +1 more)
Deletion
(frameshift variant +1 more)
Autosomal recessive inherited pseudoxanthoma elasticum
GPathogenic
ABCC6
(S269* +1 more)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive inherited pseudoxanthoma elasticum
GLikely pathogenic
ABCC6
Single nucleotide variant
(synonymous variant +1 more)
Pseudoxanthoma elasticum, forme fruste
+3 more
GLikely benign
ABCC6
Deletion
(intron variant)
Arterial calcification, generalized, of infancy, 2
+2 more
GBenign
ABCC6
Single nucleotide variant
(intron variant)
Arterial calcification, generalized, of infancy, 2
+2 more
GBenign
ABCC6
Single nucleotide variant
(intron variant)
Arterial calcification, generalized, of infancy, 2
+2 more
GBenign
ABCC6
(L260V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+4 more
GUncertain significance
ABCC6
(C8*)
Single nucleotide variant
(nonsense +2 more)
Autosomal recessive inherited pseudoxanthoma elasticum
GUncertain significance
ABCC6
Single nucleotide variant
(intron variant)
Arterial calcification, generalized, of infancy, 2
+3 more
GLikely benign
ABCC6
Single nucleotide variant
(intron variant)
not provided
+3 more
GLikely benign
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
Single nucleotide variant
(intron variant)
Autosomal recessive inherited pseudoxanthoma elasticum
+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)
not provided
+3 more
GLikely benign
ABCC6
Single nucleotide variant
(synonymous variant)
Autosomal recessive inherited pseudoxanthoma elasticum
+3 more
GLikely benign
ABCC6
Single nucleotide variant
(intron variant)
Autosomal recessive inherited pseudoxanthoma elasticum
+3 more
GLikely benign
ABCC6
Single nucleotide variant
(synonymous variant)
Autosomal recessive inherited pseudoxanthoma elasticum
+3 more
GLikely benign
ABCC6
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
ABCC6
Single nucleotide variant
(synonymous variant +1 more)
Pseudoxanthoma elasticum, forme fruste
+3 more
GLikely benign
ABCC6
Single nucleotide variant
(intron variant)
not provided
+3 more
GLikely benign
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)
Autosomal recessive inherited pseudoxanthoma elasticum
+3 more
GLikely benign
ABCC6
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GLikely benign
ABCC6
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GBenign/Likely benign
ABCC6
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GLikely benign
ABCC6
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
ABCC6
Single nucleotide variant
(synonymous variant +1 more)
Arterial calcification, generalized, of infancy, 2
+3 more
GLikely benign
ABCC6
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive inherited pseudoxanthoma elasticum
+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
(P1143H +1 more)
Single nucleotide variant
(missense variant +1 more)
Arterial calcification, generalized, of infancy, 2
+3 more
GUncertain significance
ABCC6
(V501I +1 more)
Single nucleotide variant
(missense variant +1 more)
Arterial calcification, generalized, of infancy, 2
+3 more
GUncertain significance
ABCC6
(V436A +1 more)
Single nucleotide variant
(missense variant +1 more)
Arterial calcification, generalized, of infancy, 2
+3 more
GUncertain significance
ABCC6
(V301M +1 more)
Single nucleotide variant
(missense variant +1 more)
Arterial calcification, generalized, of infancy, 2
+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
(K579E +1 more)
Single nucleotide variant
(missense variant +1 more)
Arterial calcification, generalized, of infancy, 2
+3 more
GUncertain significance
ABCC6
(N411S +1 more)
Indel
(missense variant +1 more)
not provided
+3 more
GUncertain significance
ABCC6
(E770K +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+5 more
GUncertain significance
ABCC6
Single nucleotide variant
(intron variant)
Arterial calcification, generalized, of infancy, 2
+3 more
GUncertain significance
ABCC6
(T1377M +1 more)
Single nucleotide variant
(missense variant +1 more)
Arterial calcification, generalized, of infancy, 2
+3 more
GUncertain significance
ABCC6
(D860E +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
ABCC6
(A578T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
ABCC6
(V328I +1 more)
Single nucleotide variant
(missense variant +1 more)
Arterial calcification, generalized, of infancy, 2
+3 more
GUncertain significance
ABCC6
(P1165L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
ABCC6
(V1154I +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ABCC6
(P1483Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Pseudoxanthoma elasticum, forme fruste
+3 more
GUncertain significance
ABCC6
(P1163L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
ABCC6
Single nucleotide variant
(intron variant)
Pseudoxanthoma elasticum, forme fruste
+3 more
GUncertain significance
ABCC6
(V597M +1 more)
Single nucleotide variant
(missense variant +1 more)
ABCC6-related condition
+4 more
GUncertain significance
ABCC6, LOC125146421
(R1347H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
ABCC6
(A1144V +1 more)
Single nucleotide variant
(missense variant)
Arterial calcification, generalized, of infancy, 2
+3 more
GUncertain significance
ABCC6
(W431R +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive inherited pseudoxanthoma elasticum
+3 more
GUncertain significance
ABCC6
(G405S +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
(I1216fs +1 more)
Duplication
(frameshift variant +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
ABCC6
(G1296D +1 more)
Single nucleotide variant
(missense variant +1 more)
Arterial calcification, generalized, of infancy, 2
+4 more
GPathogenic/Likely pathogenic
ABCC6
(V478I +1 more)
Single nucleotide variant
(missense variant +1 more)
Pseudoxanthoma elasticum, forme fruste
+3 more
GConflicting classifications of pathogenicity
ABCC6
(V588L +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+3 more
GUncertain significance
ABCC6
(V1333M +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive inherited pseudoxanthoma elasticum
+3 more
GUncertain significance
ABCC6
(V696M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
ABCC6
(R887H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
ABCC6
(E585G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
ABCC6
(V711L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
ABCC6
(Q689H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
ABCC6
(V1107A +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ABCC6
(S1109L +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ABCC6
(F1379L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
ABCC6
(A524T +1 more)
Single nucleotide variant
(missense variant +1 more)
Pseudoxanthoma elasticum, forme fruste
+3 more
GUncertain significance
ABCC6
(R526Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Arterial calcification, generalized, of infancy, 2
+3 more
GUncertain significance
ABCC6
(H1082D +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
ABCC6
(R1015W +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+4 more
GUncertain significance
ABCC6
(V707M +1 more)
Single nucleotide variant
(missense variant +1 more)
Arterial calcification, generalized, of infancy, 2
+3 more
GUncertain significance
ABCC6
(E782K +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive inherited pseudoxanthoma elasticum
+3 more
GUncertain significance
ABCC6
(R1039H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
ABCC6
(A524S +1 more)
Single nucleotide variant
(missense variant +1 more)
Arterial calcification, generalized, of infancy, 2
+3 more
GUncertain significance
ABCC6
(V1404M +1 more)
Single nucleotide variant
(missense variant +1 more)
Arterial calcification, generalized, of infancy, 2
+3 more
GUncertain significance
ABCC6
(S754C +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive inherited pseudoxanthoma elasticum
+3 more
GUncertain significance
ABCC6
(E422K +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
(A453T +1 more)
Single nucleotide variant
(missense variant +1 more)
Arterial calcification, generalized, of infancy, 2
+3 more
GUncertain significance
ABCC6
(R1243Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive inherited pseudoxanthoma elasticum
+3 more
GConflicting classifications of pathogenicity
ABCC6
(G600R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
ABCC6
(V1318M +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive inherited pseudoxanthoma elasticum
+3 more
GUncertain significance
ABCC6
(R1039C +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive inherited pseudoxanthoma elasticum
+3 more
GUncertain significance
ABCC6
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GUncertain significance
ABCC6
(G1213R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+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
(V87M)
Single nucleotide variant
(missense variant +2 more)
not provided
+3 more
GUncertain significance
XYLT1
(T936M)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
+2 more
GUncertain significance
ABCC6
Single nucleotide variant
(intron variant)
Pseudoxanthoma elasticum, forme fruste
+3 more
GBenign
ABCC6
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive inherited pseudoxanthoma elasticum
+3 more
GLikely benign
ABCC6
(Q541K +1 more)
Single nucleotide variant
(missense variant +1 more)
Pseudoxanthoma elasticum, forme fruste
+3 more
GUncertain significance
ABCC6
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign/Likely benign
ABCC6
Single nucleotide variant
(intron variant)
Pseudoxanthoma elasticum, forme fruste
+3 more
GBenign
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