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Links from MedGen

Items: 1 to 100 of 261

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr16:16269785
GRCh38:
Chr16:16175928
ABCC6Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, Arterial calcification, generalized, of infancy, 2,
not provided		Likely benign
(Jul 1, 2023)		criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr16:16278976
GRCh38:
Chr16:16185119
ABCC6Arterial calcification, generalized, of infancy, 2, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste
Benign
(Dec 5, 2021)		criteria provided, single submitter
3.
GRCh37:
Chr16:16278948
GRCh38:
Chr16:16185091
ABCC6Arterial calcification, generalized, of infancy, 2, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste
Benign
(Dec 5, 2021)		criteria provided, single submitter
4.
GRCh37:
Chr16:16291816
GRCh38:
Chr16:16197959
ABCC6Arterial calcification, generalized, of infancy, 2, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste
Benign
(Dec 5, 2021)		criteria provided, single submitter
5.
GRCh37:
Chr16:16295914
GRCh38:
Chr16:16202057
ABCC6L260V, L374VSee cases, Inborn genetic diseases, Pseudoxanthoma elasticum,
Pseudoxanthoma elasticum, forme fruste, Arterial calcification, generalized, of infancy, 2		Uncertain significance
(May 8, 2022)		criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr16:16291862
GRCh38:
Chr16:16198005
ABCC6Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, Arterial calcification, generalized, of infancy, 2,
not provided		Likely benign
(Oct 21, 2022)		criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr16:16253329
GRCh38:
Chr16:16159472
ABCC6Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, Arterial calcification, generalized, of infancy, 2,
not provided		Likely benign
(Aug 9, 2022)		criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr16:16278887
GRCh38:
Chr16:16185030
ABCC6not provided, Pseudoxanthoma elasticum, forme fruste, Pseudoxanthoma elasticum,
Arterial calcification, generalized, of infancy, 2		Likely benign
(Jul 20, 2022)		criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr16:16276437
GRCh38:
Chr16:16182580
ABCC6not provided, Pseudoxanthoma elasticum, forme fruste, Pseudoxanthoma elasticum,
Arterial calcification, generalized, of infancy, 2		Likely benign
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr16:16282851
GRCh38:
Chr16:16188994
ABCC6Pseudoxanthoma elasticum, forme fruste, Pseudoxanthoma elasticum, Arterial calcification, generalized, of infancy, 2,
not provided		Likely benign
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr16:16255436
GRCh38:
Chr16:16161579
ABCC6not provided, Pseudoxanthoma elasticum, forme fruste, Pseudoxanthoma elasticum,
Arterial calcification, generalized, of infancy, 2		Likely benign
(Oct 7, 2022)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr16:16255438
GRCh38:
Chr16:16161581
ABCC6Arterial calcification, generalized, of infancy, 2, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste,
not provided		Likely benign
(Aug 27, 2022)		criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr16:16255435
GRCh38:
Chr16:16161578
ABCC6Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, Arterial calcification, generalized, of infancy, 2,
not provided		Likely benign
(Oct 9, 2022)		criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr16:16256945
GRCh38:
Chr16:16163088
ABCC6Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, Arterial calcification, generalized, of infancy, 2,
not provided		Likely benign
(Jul 5, 2022)		criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr16:16248666
GRCh38:
Chr16:16154809
ABCC6Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, Arterial calcification, generalized, of infancy, 2,
not provided		Likely benign
(Sep 6, 2022)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr16:16256879
GRCh38:
Chr16:16163022
ABCC6not provided, Arterial calcification, generalized, of infancy, 2, Pseudoxanthoma elasticum,
Pseudoxanthoma elasticum, forme fruste		Likely benign
(Jul 12, 2022)		criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr16:16271378
GRCh38:
Chr16:16177521
ABCC6Arterial calcification, generalized, of infancy, 2, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste,
not provided		Likely benign
(Jul 14, 2022)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr16:16244506
GRCh38:
Chr16:16150649
ABCC6not provided, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste,
Arterial calcification, generalized, of infancy, 2		Likely benign
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr16:16244103
GRCh38:
Chr16:16150246
ABCC6not provided, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste,
Arterial calcification, generalized, of infancy, 2		Likely benign
(Oct 16, 2022)		criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr16:16248517
GRCh38:
Chr16:16154660
ABCC6not provided, Arterial calcification, generalized, of infancy, 2, Pseudoxanthoma elasticum,
Pseudoxanthoma elasticum, forme fruste		Likely benign
(Oct 23, 2022)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr16:16244560
GRCh38:
Chr16:16150703
ABCC6Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, Arterial calcification, generalized, of infancy, 2,
not provided		Likely benign
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr16:16248880
GRCh38:
Chr16:16155023
ABCC6not provided, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste,
Arterial calcification, generalized, of infancy, 2		Likely benign
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr16:16272673
GRCh38:
Chr16:16178816
ABCC6not provided, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste,
Arterial calcification, generalized, of infancy, 2		Benign/Likely benign
(Sep 25, 2022)		criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr16:16251565
GRCh38:
Chr16:16157708
ABCC6not provided, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste,
Arterial calcification, generalized, of infancy, 2		Likely benign
(Oct 8, 2022)		criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr16:16256993
GRCh38:
Chr16:16163136
ABCC6Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, Arterial calcification, generalized, of infancy, 2,
not provided		Likely benign
(Oct 5, 2022)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr16:16244026
GRCh38:
Chr16:16150169
ABCC6Arterial calcification, generalized, of infancy, 2, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste,
not provided		Likely benign
(Sep 7, 2021)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr16:16284087
GRCh38:
Chr16:16190230
ABCC6not provided, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste,
Arterial calcification, generalized, of infancy, 2		Likely benign
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr16:16251549
GRCh38:
Chr16:16157692
ABCC6V1171M, V1285Mnot provided, Arterial calcification, generalized, of infancy, 2, Pseudoxanthoma elasticum,
Pseudoxanthoma elasticum, forme fruste		Uncertain significance
(Sep 26, 2022)		criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr16:16251632
GRCh38:
Chr16:16157775
ABCC6P1143H, P1257HArterial calcification, generalized, of infancy, 2, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste,
not provided		Uncertain significance
(Jul 19, 2022)		criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr16:16281005
GRCh38:
Chr16:16187148
ABCC6V501I, V615IPseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, Arterial calcification, generalized, of infancy, 2,
not provided		Uncertain significance
(Oct 5, 2022)		criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr16:16282818
GRCh38:
Chr16:16188961
ABCC6V436A, V550APseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, Arterial calcification, generalized, of infancy, 2,
not provided		Uncertain significance
(Feb 3, 2022)		criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr16:16291973
GRCh38:
Chr16:16198116
ABCC6V301M, V415MPseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, Arterial calcification, generalized, of infancy, 2,
not provided		Uncertain significance
(Aug 22, 2022)		criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr16:16248794
GRCh38:
Chr16:16154937
ABCC6D1212G, D1326Gnot provided, Arterial calcification, generalized, of infancy, 2, Pseudoxanthoma elasticum,
Pseudoxanthoma elasticum, forme fruste		Uncertain significance
(Jan 10, 2022)		criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr16:16282732
GRCh38:
Chr16:16188875
ABCC6K579E, K465EPseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, Arterial calcification, generalized, of infancy, 2,
not provided		Uncertain significance
(Oct 24, 2022)		criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr16:16291983-16291984
GRCh38:
Chr16:16198126-16198127
ABCC6N411S, N297Snot provided, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste,
Arterial calcification, generalized, of infancy, 2		Uncertain significance
(May 17, 2022)		criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr16:16269784
GRCh38:
Chr16:16175927
ABCC6E770K, E884KPseudoxanthoma elasticum, forme fruste, Arterial calcification, generalized, of infancy, 2, Pseudoxanthoma elasticum,
Inborn genetic diseases, not provided		Uncertain significance
(Apr 20, 2023)		criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr16:16251515
GRCh38:
Chr16:16157658
ABCC6Arterial calcification, generalized, of infancy, 2, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste,
not provided		Uncertain significance
(Aug 5, 2022)		criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr16:16248563
GRCh38:
Chr16:16154706
ABCC6T1377M, T1263MPseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, Arterial calcification, generalized, of infancy, 2,
not provided		Uncertain significance
(Jul 15, 2022)		criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr16:16263576
GRCh38:
Chr16:16169719
ABCC6D860E, D974Enot provided, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste,
Arterial calcification, generalized, of infancy, 2		Uncertain significance
(Oct 24, 2022)		criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr16:16276442
GRCh38:
Chr16:16182585
ABCC6A578T, A692TArterial calcification, generalized, of infancy, 2, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste,
not provided		Uncertain significance
(Aug 22, 2022)		criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr16:16291892
GRCh38:
Chr16:16198035
ABCC6V328I, V442IPseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, Arterial calcification, generalized, of infancy, 2,
not provided		Uncertain significance
(Jul 5, 2022)		criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr16:16251566
GRCh38:
Chr16:16157709
ABCC6P1165L, P1279LPseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, Arterial calcification, generalized, of infancy, 2,
not provided		Uncertain significance
(Aug 10, 2022)		criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr16:16256896
GRCh38:
Chr16:16163039
ABCC6V1154I, V1040Inot provided, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste,
Arterial calcification, generalized, of infancy, 2		Uncertain significance
(Jul 6, 2022)		criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr16:16244054
GRCh38:
Chr16:16150197
ABCC6P1483Q, P1369QPseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, Arterial calcification, generalized, of infancy, 2,
not provided		Uncertain significance
(May 30, 2022)		criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr16:16256868
GRCh38:
Chr16:16163011
ABCC6P1163L, P1049LPseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, Arterial calcification, generalized, of infancy, 2,
Inborn genetic diseases, not provided		Uncertain significance
(Jun 14, 2022)		criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr16:16281079
GRCh38:
Chr16:16187222
ABCC6Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, Arterial calcification, generalized, of infancy, 2,
not provided		Uncertain significance
(Aug 22, 2022)		criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr16:16276385
GRCh38:
Chr16:16182528
ABCC6V597M, V711MPseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, Arterial calcification, generalized, of infancy, 2,
not provided, ABCC6-related condition		Uncertain significance
(Sep 6, 2022)		criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr16:16244456
GRCh38:
Chr16:16150599
ABCC6, LOC125146421R1347H, R1461Hnot provided, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste,
Arterial calcification, generalized, of infancy, 2		Uncertain significance
(Apr 23, 2022)		criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr16:16256925
GRCh38:
Chr16:16163068
ABCC6A1144V, A1030VPseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, Arterial calcification, generalized, of infancy, 2,
not provided		Uncertain significance
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr16:16291925
GRCh38:
Chr16:16198068
ABCC6W431R, W317Rnot provided, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste,
Arterial calcification, generalized, of infancy, 2		Uncertain significance
(Aug 31, 2021)		criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr16:16284101
GRCh38:
Chr16:16190244
ABCC6G405S, G519Snot provided, Pseudoxanthoma elasticum, forme fruste, Arterial calcification, generalized, of infancy, 2,
Pseudoxanthoma elasticum		Uncertain significance
(Jun 5, 2022)		criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr16:16251532
GRCh38:
Chr16:16157675
ABCC6not provided, Pseudoxanthoma elasticum, forme fruste, Arterial calcification, generalized, of infancy, 2,
Pseudoxanthoma elasticum		Likely benign
(Jul 3, 2022)		criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr16:16248783-16248784
GRCh38:
Chr16:16154926-16154927
ABCC6I1216fs, I1330fsArterial calcification, generalized, of infancy, 2, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste,
not provided		Pathogenic/Likely pathogenic
(Sep 1, 2022)		criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr16:16248884
GRCh38:
Chr16:16155027
ABCC6G1296D, G1182Dnot provided, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste,
Arterial calcification, generalized, of infancy, 2, ABCC6-related condition		Pathogenic/Likely pathogenic
(Aug 25, 2023)		criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr16:16282693
GRCh38:
Chr16:16188836
ABCC6V478I, V592IArterial calcification, generalized, of infancy, 2, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste,
not provided		Uncertain significance
(Jun 14, 2022)		criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr16:16276412
GRCh38:
Chr16:16182555
ABCC6V588L, V702LArterial calcification, generalized, of infancy, 2, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste,
not provided		Uncertain significance
(Aug 14, 2021)		criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr16:16248774
GRCh38:
Chr16:16154917
ABCC6V1333M, V1219Mnot provided, Arterial calcification, generalized, of infancy, 2, Pseudoxanthoma elasticum,
Pseudoxanthoma elasticum, forme fruste		Uncertain significance
(Sep 1, 2022)		criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr16:16276430
GRCh38:
Chr16:16182573
ABCC6V696M, V582Mnot provided, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste,
Arterial calcification, generalized, of infancy, 2		Uncertain significance
(Jun 13, 2022)		criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr16:16269774
GRCh38:
Chr16:16175917
ABCC6R887H, R773Hnot provided, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste,
Arterial calcification, generalized, of infancy, 2		Uncertain significance
(Jul 5, 2022)		criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr16:16276420
GRCh38:
Chr16:16182563
ABCC6E585G, E699GPseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, Arterial calcification, generalized, of infancy, 2,
not provided		Uncertain significance
(Jul 26, 2022)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr16:16276385
GRCh38:
Chr16:16182528
ABCC6V711L, V597LPseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, Arterial calcification, generalized, of infancy, 2,
not provided		Uncertain significance
(Aug 9, 2022)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr16:16272661
GRCh38:
Chr16:16178804
ABCC6Q689H, Q803Hnot provided, Arterial calcification, generalized, of infancy, 2, Pseudoxanthoma elasticum,
Pseudoxanthoma elasticum, forme fruste		Uncertain significance
(Aug 19, 2022)		criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr16:16257036
GRCh38:
Chr16:16163179
ABCC6V1107A, V993Anot provided, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste,
Arterial calcification, generalized, of infancy, 2		Uncertain significance
(Aug 22, 2022)		criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr16:16257030
GRCh38:
Chr16:16163173
ABCC6S1109L, S995LPseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, Arterial calcification, generalized, of infancy, 2,
not provided		Uncertain significance
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr16:16244025
GRCh38:
Chr16:16150168
ABCC6F1379L, F1493LPseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, Arterial calcification, generalized, of infancy, 2,
not provided		Uncertain significance
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr16:16284086
GRCh38:
Chr16:16190229
ABCC6A524T, A410TPseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, Arterial calcification, generalized, of infancy, 2,
not provided		Uncertain significance
(Aug 23, 2022)		criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr16:16284079
GRCh38:
Chr16:16190222
ABCC6R526Q, R412Qnot provided, Arterial calcification, generalized, of infancy, 2, Pseudoxanthoma elasticum,
Pseudoxanthoma elasticum, forme fruste		Uncertain significance
(Apr 12, 2022)		criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr16:16255342
GRCh38:
Chr16:16161485
ABCC6H1082D, H1196DPseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, Arterial calcification, generalized, of infancy, 2,
not provided		Uncertain significance
(Oct 29, 2021)		criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr16:16259743
GRCh38:
Chr16:16165886
ABCC6R1015W, R901WInborn genetic diseases, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste,
Arterial calcification, generalized, of infancy, 2, not provided		Uncertain significance
(Dec 2, 2022)		criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr16:16276397
GRCh38:
Chr16:16182540
ABCC6V707M, V593Mnot provided, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste,
Arterial calcification, generalized, of infancy, 2		Uncertain significance
(Dec 1, 2022)		criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr16:16267242
GRCh38:
Chr16:16173385
ABCC6E782K, E896KPseudoxanthoma elasticum, Arterial calcification, generalized, of infancy, 2, Pseudoxanthoma elasticum, forme fruste,
not provided		Uncertain significance
(Jul 6, 2022)		criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr16:16256898
GRCh38:
Chr16:16163041
ABCC6R1039H, R1153HInborn genetic diseases, not provided, Pseudoxanthoma elasticum,
Arterial calcification, generalized, of infancy, 2, Pseudoxanthoma elasticum, forme fruste		Conflicting interpretations of pathogenicity
(Jun 14, 2023)		criteria provided, conflicting interpretations
73.
GRCh37:
Chr16:16284086
GRCh38:
Chr16:16190229
ABCC6A524S, A410Snot provided, Arterial calcification, generalized, of infancy, 2, Pseudoxanthoma elasticum,
Pseudoxanthoma elasticum, forme fruste		Uncertain significance
(Sep 6, 2022)		criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr16:16244628
GRCh38:
Chr16:16150771
ABCC6V1404M, V1290MArterial calcification, generalized, of infancy, 2, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste,
not provided		Uncertain significance
(Sep 13, 2022)		criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr16:16272809
GRCh38:
Chr16:16178952
ABCC6S754C, S640CArterial calcification, generalized, of infancy, 2, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste,
not provided		Uncertain significance
(Jul 5, 2022)		criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr16:16291952
GRCh38:
Chr16:16198095
ABCC6E422K, E308Knot provided, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste,
Arterial calcification, generalized, of infancy, 2		Uncertain significance
(May 27, 2022)		criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr16:16263616
GRCh38:
Chr16:16169759
ABCC6S961F, S847FArterial calcification, generalized, of infancy, 2, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste,
not provided		Uncertain significance
(Aug 23, 2022)		criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr16:16282768
GRCh38:
Chr16:16188911
ABCC6A453T, A567TPseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, Arterial calcification, generalized, of infancy, 2,
not provided		Uncertain significance
(Mar 23, 2022)		criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr16:16248623
GRCh38:
Chr16:16154766
ABCC6R1243Q, R1357QPseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, Arterial calcification, generalized, of infancy, 2,
not provided		Conflicting interpretations of pathogenicity
(Oct 24, 2022)		criteria provided, conflicting interpretations
80.
GRCh37:
Chr16:16276376
GRCh38:
Chr16:16182519
ABCC6G600R, G714Rnot provided, Arterial calcification, generalized, of infancy, 2, Pseudoxanthoma elasticum,
Pseudoxanthoma elasticum, forme fruste		Uncertain significance
(Aug 19, 2022)		criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr16:16244544
GRCh38:
Chr16:16150687
ABCC6V1318M, V1432MPseudoxanthoma elasticum, forme fruste, Pseudoxanthoma elasticum, Arterial calcification, generalized, of infancy, 2,
not provided		Uncertain significance
(Jul 6, 2022)		criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr16:16256899
GRCh38:
Chr16:16163042
ABCC6R1039C, R1153Cnot provided, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste,
Arterial calcification, generalized, of infancy, 2		Uncertain significance
(Jul 11, 2022)		criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr16:16272655
GRCh38:
Chr16:16178798
ABCC6not provided, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste,
Arterial calcification, generalized, of infancy, 2		Uncertain significance
(Aug 19, 2022)		criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr16:16248792
GRCh38:
Chr16:16154935
ABCC6G1213R, G1327Rnot provided, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste,
Arterial calcification, generalized, of infancy, 2		Uncertain significance
(Jul 27, 2022)		criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr16:16253388
GRCh38:
Chr16:16159531
ABCC6S1115N, S1229Nnot provided, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste,
Arterial calcification, generalized, of infancy, 2		Uncertain significance
(Apr 20, 2022)		criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr16:16313765
GRCh38:
Chr16:16219908
ABCC6V87Mnot provided, Arterial calcification, generalized, of infancy, 2, Pseudoxanthoma elasticum,
Pseudoxanthoma elasticum, forme fruste		Uncertain significance
(Oct 1, 2021)		criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr16:16280895
GRCh38:
Chr16:16187038
ABCC6Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, Arterial calcification, generalized, of infancy, 2,
not provided		Benign
(Dec 5, 2021)		criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr16:16248868
GRCh38:
Chr16:16155011
ABCC6not provided, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste,
Arterial calcification, generalized, of infancy, 2		Likely benign
(Oct 15, 2022)		criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr16:16276768
GRCh38:
Chr16:16182911
ABCC6Q541K, Q655KPseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, Arterial calcification, generalized, of infancy, 2,
not provided		Uncertain significance
(Aug 31, 2022)		criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr16:16313667
GRCh38:
Chr16:16219810
ABCC6Arterial calcification, generalized, of infancy, 2, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste,
not provided		Benign/Likely benign
(Jul 28, 2021)		criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr16:16284265
GRCh38:
Chr16:16190408
ABCC6Arterial calcification, generalized, of infancy, 2, not provided, Pseudoxanthoma elasticum, forme fruste,
Pseudoxanthoma elasticum		Benign
(Dec 5, 2021)		criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr16:16280889
GRCh38:
Chr16:16187032
ABCC6Arterial calcification, generalized, of infancy, 2, not provided, Pseudoxanthoma elasticum, forme fruste,
Pseudoxanthoma elasticum		Benign
(Dec 5, 2021)		criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr16:16244129
GRCh38:
Chr16:16150272
ABCC6Arterial calcification, generalized, of infancy, 2, not provided, Pseudoxanthoma elasticum, forme fruste,
Pseudoxanthoma elasticum		Benign
(Dec 5, 2021)		criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr16:16283973
GRCh38:
Chr16:16190116
ABCC6not provided, Arterial calcification, generalized, of infancy, 2, Pseudoxanthoma elasticum, forme fruste,
Pseudoxanthoma elasticum		Benign
(Dec 5, 2021)		criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr16:16255205
GRCh38:
Chr16:16161348
ABCC6Arterial calcification, generalized, of infancy, 2, not provided, Pseudoxanthoma elasticum, forme fruste,
Pseudoxanthoma elasticum		Benign
(Dec 5, 2021)		criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr16:16281154
GRCh38:
Chr16:16187297
ABCC6not provided, Arterial calcification, generalized, of infancy, 2, Pseudoxanthoma elasticum, forme fruste,
Pseudoxanthoma elasticum		Benign
(Dec 5, 2021)		criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr16:16255240
GRCh38:
Chr16:16161383
ABCC6Arterial calcification, generalized, of infancy, 2, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste,
not provided		Benign
(Dec 5, 2021)		criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr16:16295946
GRCh38:
Chr16:16202089
ABCC6Q249P, Q363Pnot provided, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste,
Arterial calcification, generalized, of infancy, 2		Uncertain significance
(Feb 16, 2022)		criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr16:16280921
GRCh38:
Chr16:16187064
ABCC6Pseudoxanthoma elasticum, forme fruste, Pseudoxanthoma elasticum, not provided,
Arterial calcification, generalized, of infancy, 2		Benign
(Jul 14, 2021)		criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr16:16269634
GRCh38:
Chr16:16175777
ABCC6Arterial calcification, generalized, of infancy, 2, Pseudoxanthoma elasticum, not provided,
Pseudoxanthoma elasticum, forme fruste		Benign
(Jul 14, 2021)		criteria provided, multiple submitters, no conflicts
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