C0033847 - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1944711.	NM_000392.5(ABCC2):c.1967+1G>A GRCh37: Chr10:101571360 GRCh38: Chr10:99811603	ABCC2		not provided	Likely pathogenic (Oct 2, 2017)	criteria provided, single submitter
Select item 65682.	NC_000016.10:g.(?_15703134)_(16223472_?)del GRCh37: Chr16:15796991-16317329 GRCh38: Chr16:15703134-16223472	ABCC1, ABCC6, CEP20, LOC112340382, LOC113939949, LOC121587532, LOC125146420, LOC125146421, LOC126862300, MYH11, NDE1		Pseudoxanthoma elasticum	Pathogenic (Apr 1, 2006)	no assertion criteria provided
Select item 4440123.	NC_000016.10:g.(?_15788690)_(16185034_?)del GRCh38: Chr16:15788690-16185034	ABCC1, ABCC6, CEP20, LOC112340382, LOC121587532, LOC125146420, LOC125146421, LOC126862300, MYH11		Pseudoxanthoma elasticum	Pathogenic	no assertion criteria provided
Select item 4333704.	NM_001171.6(ABCC6):c.*38G>A GRCh37: Chr16:16243952 GRCh38: Chr16:16150095	ABCC6		Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, Arterial calcification, generalized, of infancy, 2	Likely benign (Jan 19, 2022)	criteria provided, single submitter
Select item 4333695.	NM_001171.6(ABCC6):c.*17G>A GRCh37: Chr16:16243973 GRCh38: Chr16:16150116	ABCC6		Arterial calcification, generalized, of infancy, 2, Pseudoxanthoma elasticum, not provided, Pseudoxanthoma elasticum, forme fruste	Benign (Dec 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 4333686.	NM_001171.6(ABCC6):c.4501G>A (p.Gly1501Ser) GRCh37: Chr16:16244001 GRCh38: Chr16:16150144	ABCC6	G1501S, G1387S	Pseudoxanthoma elasticum	Likely pathogenic (Mar 1, 2021)	criteria provided, single submitter
Select item 14310057.	NM_001171.6(ABCC6):c.4477T>C (p.Phe1493Leu) GRCh37: Chr16:16244025 GRCh38: Chr16:16150168	ABCC6	F1379L, F1493L	Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, Arterial calcification, generalized, of infancy, 2, not provided	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 15426918.	NM_001171.6(ABCC6):c.4476G>C (p.Leu1492=) GRCh37: Chr16:16244026 GRCh38: Chr16:16150169	ABCC6		Arterial calcification, generalized, of infancy, 2, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, not provided	Likely benign (Sep 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 14847169.	NM_001171.6(ABCC6):c.4448C>A (p.Pro1483Gln) GRCh37: Chr16:16244054 GRCh38: Chr16:16150197	ABCC6	P1483Q, P1369Q	Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, Arterial calcification, generalized, of infancy, 2, not provided	Uncertain significance (May 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43336710.	NM_001171.6(ABCC6):c.4448C>T (p.Pro1483Leu) GRCh37: Chr16:16244054 GRCh38: Chr16:16150197	ABCC6	P1483L, P1369L	not provided, Arterial calcification, generalized, of infancy, 2, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste	Uncertain significance (Jul 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43329511.	NM_001171.6(ABCC6):c.4441G>A (p.Gly1481Ser) GRCh37: Chr16:16244061 GRCh38: Chr16:16150204	ABCC6	G1481S, G1367S	Arterial calcification, generalized, of infancy, 2, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, not provided	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43336512.	NM_001171.6(ABCC6):c.4434del (p.Glu1479fs) GRCh37: Chr16:16244068 GRCh38: Chr16:16150211	ABCC6	E1365fs, E1479fs	Pseudoxanthoma elasticum	Likely pathogenic (Mar 2, 2021)	no assertion criteria provided
Select item 81221113.	NM_001171.6(ABCC6):c.4424G>A (p.Gly1475Glu) GRCh37: Chr16:16244078 GRCh38: Chr16:16150221	ABCC6	G1475E, G1361E	not provided	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 43336414.	NM_001171.6(ABCC6):c.4420A>T (p.Lys1474Ter) GRCh37: Chr16:16244082 GRCh38: Chr16:16150225	ABCC6	K1474, K1360	Pseudoxanthoma elasticum	Likely pathogenic (Mar 2, 2021)	no assertion criteria provided
Select item 159799015.	NM_001171.6(ABCC6):c.4404-5C>A GRCh37: Chr16:16244103 GRCh38: Chr16:16150246	ABCC6		not provided, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, Arterial calcification, generalized, of infancy, 2	Likely benign (Oct 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 124569316.	NM_001171.6(ABCC6):c.4404-31A>G GRCh37: Chr16:16244129 GRCh38: Chr16:16150272	ABCC6		Arterial calcification, generalized, of infancy, 2, not provided, Pseudoxanthoma elasticum, forme fruste, Pseudoxanthoma elasticum	Benign (Dec 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 43339717.	NM_001171.6(ABCC6):c.4403+11C>G GRCh37: Chr16:16244424 GRCh38: Chr16:16150567	LOC125146421, ABCC6		not provided	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 43351618.	NM_001171.6(ABCC6):c.4403+1G>T GRCh37: Chr16:16244434 GRCh38: Chr16:16150577	ABCC6, LOC125146421		Pseudoxanthoma elasticum	Likely pathogenic (Mar 2, 2021)	no assertion criteria provided
Select item 146968019.	NM_001171.6(ABCC6):c.4382G>A (p.Arg1461His) GRCh37: Chr16:16244456 GRCh38: Chr16:16150599	ABCC6, LOC125146421	R1347H, R1461H	not provided, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, Arterial calcification, generalized, of infancy, 2	Uncertain significance (Apr 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43347520.	NM_001171.6(ABCC6):c.4381C>T (p.Arg1461Cys) GRCh37: Chr16:16244457 GRCh38: Chr16:16150600	ABCC6, LOC125146421	R1461C, R1347C	not provided, Arterial calcification, generalized, of infancy, 2, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste	Uncertain significance (Nov 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 43336321.	NM_001171.6(ABCC6):c.4377C>T (p.Arg1459=) GRCh37: Chr16:16244461 GRCh38: Chr16:16150604	LOC125146421, ABCC6		Pseudoxanthoma elasticum	Uncertain significance (Feb 16, 2021)	no assertion criteria provided
Select item 657722.	NM_001171.6(ABCC6):c.4375C>T (p.Arg1459Cys) GRCh37: Chr16:16244463 GRCh38: Chr16:16150606	ABCC6, LOC125146421	R1459C, R1345C	not specified, Arterial calcification, generalized, of infancy, 2, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, not provided	Uncertain significance (Mar 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43345223.	NM_001171.6(ABCC6):c.4341G>A (p.Trp1447Ter) GRCh37: Chr16:16244497 GRCh38: Chr16:16150640	ABCC6	W1447, W1333	Pseudoxanthoma elasticum	Likely pathogenic (Mar 2, 2021)	no assertion criteria provided
Select item 43336224.	NM_001171.6(ABCC6):c.4335del (p.Ser1446fs) GRCh37: Chr16:16244503 GRCh38: Chr16:16150646	ABCC6	S1446fs, S1332fs	Pseudoxanthoma elasticum	Likely pathogenic (Mar 2, 2021)	no assertion criteria provided
Select item 160297325.	NM_001171.6(ABCC6):c.4332C>T (p.Leu1444=) GRCh37: Chr16:16244506 GRCh38: Chr16:16150649	ABCC6		Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, Arterial calcification, generalized, of infancy, 2, not provided	Likely benign (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43351426.	NM_001171.6(ABCC6):c.4324G>A (p.Ala1442Thr) GRCh37: Chr16:16244514 GRCh38: Chr16:16150657	ABCC6	A1442T, A1328T	Pseudoxanthoma elasticum	Uncertain significance (Feb 16, 2021)	no assertion criteria provided
Select item 43336127.	NM_001171.6(ABCC6):c.4318del (p.Met1440fs) GRCh37: Chr16:16244520 GRCh38: Chr16:16150663	ABCC6	M1440fs, M1326fs	Pseudoxanthoma elasticum	Likely pathogenic (Mar 2, 2021)	no assertion criteria provided
Select item 43336028.	NM_001171.6(ABCC6):c.4306_4312del (p.Thr1436fs) GRCh37: Chr16:16244526-16244532 GRCh38: Chr16:16150669-16150675	ABCC6	T1322fs, T1436fs	Pseudoxanthoma elasticum	Likely pathogenic (Mar 2, 2021)	no assertion criteria provided
Select item 43335929.	NM_001171.6(ABCC6):c.4305C>T (p.Gly1435=) GRCh37: Chr16:16244533 GRCh38: Chr16:16150676	ABCC6		Pseudoxanthoma elasticum	Uncertain significance (Feb 2, 2021)	no assertion criteria provided
Select item 135608930.	NM_001171.6(ABCC6):c.4294G>A (p.Val1432Met) GRCh37: Chr16:16244544 GRCh38: Chr16:16150687	ABCC6	V1318M, V1432M	Pseudoxanthoma elasticum, forme fruste, Pseudoxanthoma elasticum, Arterial calcification, generalized, of infancy, 2, not provided	Uncertain significance (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 158934631.	NM_001171.6(ABCC6):c.4278C>T (p.Asp1426=) GRCh37: Chr16:16244560 GRCh38: Chr16:16150703	ABCC6		Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, Arterial calcification, generalized, of infancy, 2, not provided	Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43335832.	NM_001171.6(ABCC6):c.4271T>C (p.Ile1424Thr) GRCh37: Chr16:16244567 GRCh38: Chr16:16150710	ABCC6	I1424T, I1310T	Pseudoxanthoma elasticum	Uncertain significance (Feb 16, 2021)	criteria provided, single submitter
Select item 43352633.	NM_001171.6(ABCC6):c.4254del (p.Lys1419fs) GRCh37: Chr16:16244584 GRCh38: Chr16:16150727	ABCC6	K1305fs, K1419fs	not provided	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 43335734.	NM_001171.6(ABCC6):c.4254G>A (p.Arg1418=) GRCh37: Chr16:16244584 GRCh38: Chr16:16150727	ABCC6		not provided, Pseudoxanthoma elasticum, Arterial calcification, generalized, of infancy, 2, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, Arterial calcification, generalized, of infancy, 2, Pseudoxanthoma elasticum, forme fruste	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43335635.	NM_001171.6(ABCC6):c.4253G>A (p.Arg1418Gln) GRCh37: Chr16:16244585 GRCh38: Chr16:16150728	ABCC6	R1418Q, R1304Q	not provided	Uncertain significance (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 656636.	NM_001171.6(ABCC6):c.4243_4244insAGAA (p.Ala1415fs) GRCh37: Chr16:16244594-16244595 GRCh38: Chr16:16150737-16150738	ABCC6	A1301fs, A1415fs	Pseudoxanthoma elasticum	Pathogenic (Apr 1, 2006)	no assertion criteria provided
Select item 43344637.	NM_001171.6(ABCC6):c.4241G>A (p.Arg1414His) GRCh37: Chr16:16244597 GRCh38: Chr16:16150740	ABCC6	R1414H, R1300H	not provided	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 43335538.	NM_001171.6(ABCC6):c.4220_4221insGAAA (p.Gln1408fs) GRCh37: Chr16:16244617-16244618 GRCh38: Chr16:16150760-16150761	ABCC6	Q1294fs, Q1408fs	Pseudoxanthoma elasticum	Likely pathogenic (Mar 2, 2021)	no assertion criteria provided
Select item 3033839.	NM_001171.6(ABCC6):c.4216C>A (p.Gln1406Lys) GRCh37: Chr16:16244622 GRCh38: Chr16:16150765	ABCC6	Q1406K, Q1292K	Arterial calcification, generalized, of infancy, 2, Pseudoxanthoma elasticum	Pathogenic (Mar 1, 2021)	no assertion criteria provided
Select item 43338040.	NM_001171.6(ABCC6):c.4213G>A (p.Gly1405Ser) GRCh37: Chr16:16244625 GRCh38: Chr16:16150768	ABCC6	G1405S, G1291S	Pseudoxanthoma elasticum	Pathogenic (Mar 1, 2021)	no assertion criteria provided
Select item 138320141.	NM_001171.6(ABCC6):c.4210G>A (p.Val1404Met) GRCh37: Chr16:16244628 GRCh38: Chr16:16150771	ABCC6	V1404M, V1290M	Arterial calcification, generalized, of infancy, 2, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, not provided	Uncertain significance (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43335442.	NM_001171.6(ABCC6):c.4209C>A (p.Ser1403Arg) GRCh37: Chr16:16244629 GRCh38: Chr16:16150772	ABCC6	S1403R, S1289R	Pseudoxanthoma elasticum	Pathogenic (Mar 1, 2021)	no assertion criteria provided
Select item 43345343.	NM_001171.6(ABCC6):c.4209-2A>C GRCh37: Chr16:16244631 GRCh38: Chr16:16150774	ABCC6		Pseudoxanthoma elasticum	Pathogenic (Apr 25, 2020)	criteria provided, single submitter
Select item 43344244.	NM_001171.5(ABCC6):c.2996-1724_4209-478del GRCh37: Chr16:16245107-16261514 GRCh38: Chr16:16151250-16167657	ABCC6		Pseudoxanthoma elasticum	Uncertain significance (Mar 12, 2021)	no assertion criteria provided
Select item 657345.	NG_007558.2:g.(60799_60814)_(77206_77221)del GRCh37: Chr16:16245108-16261530 GRCh38: Chr16:16151251-16167673	ABCC6		Pseudoxanthoma elasticum	Pathogenic (Mar 1, 2001)	no assertion criteria provided
Select item 43339646.	NM_001171.6(ABCC6):c.4208+9G>A GRCh37: Chr16:16248476 GRCh38: Chr16:16154619	ABCC6		Pseudoxanthoma elasticum, forme fruste, not provided, Pseudoxanthoma elasticum, Arterial calcification, generalized, of infancy, 2	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43335347.	NM_001171.6(ABCC6):c.4198G>A (p.Glu1400Lys) GRCh37: Chr16:16248495 GRCh38: Chr16:16154638	ABCC6	E1400K, E1286K	not provided	Pathogenic (Sep 26, 2022)	criteria provided, single submitter
Select item 43335248.	NM_001171.6(ABCC6):c.4192C>T (p.Arg1398Ter) GRCh37: Chr16:16248501 GRCh38: Chr16:16154644	ABCC6	R1398, R1284	not provided, Pseudoxanthoma elasticum	Pathogenic (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43343749.	NM_001171.6(ABCC6):c.4189G>A (p.Asp1397Asn) GRCh37: Chr16:16248504 GRCh38: Chr16:16154647	ABCC6	D1397N, D1283N	not provided	Uncertain significance (May 17, 2022)	criteria provided, single submitter
Select item 43340650.	NM_001171.6(ABCC6):c.4182G>A (p.Lys1394=) GRCh37: Chr16:16248511 GRCh38: Chr16:16154654	ABCC6		Pseudoxanthoma elasticum	Uncertain significance (Feb 16, 2021)	no assertion criteria provided
Select item 43335151.	NM_001171.6(ABCC6):c.4182del (p.Lys1394fs) GRCh37: Chr16:16248511 GRCh38: Chr16:16154654	ABCC6	K1394fs, K1280fs	not provided, Arterial calcification, generalized, of infancy, 2, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste	Pathogenic (Oct 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 159606352.	NM_001171.6(ABCC6):c.4176G>A (p.Gln1392=) GRCh37: Chr16:16248517 GRCh38: Chr16:16154660	ABCC6		not provided, Arterial calcification, generalized, of infancy, 2, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste	Likely benign (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 150700053.	NM_001171.6(ABCC6):c.4130C>T (p.Thr1377Met) GRCh37: Chr16:16248563 GRCh38: Chr16:16154706	ABCC6	T1377M, T1263M	Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, Arterial calcification, generalized, of infancy, 2, not provided	Uncertain significance (Jul 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43335054.	NM_001171.6(ABCC6):c.4104del (p.Asp1368fs) GRCh37: Chr16:16248589 GRCh38: Chr16:16154732	ABCC6	D1254fs, D1368fs	not provided, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, Arterial calcification, generalized, of infancy, 2, Pseudoxanthoma elasticum	Pathogenic (Jul 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 41973855.	NM_001171.6(ABCC6):c.4081G>A (p.Asp1361Asn) GRCh37: Chr16:16248612 GRCh38: Chr16:16154755	ABCC6	D1361N, D1247N	not provided, Pseudoxanthoma elasticum	Conflicting interpretations of pathogenicity (Aug 16, 2022)	criteria provided, conflicting interpretations
Select item 135925456.	NM_001171.6(ABCC6):c.4070G>A (p.Arg1357Gln) GRCh37: Chr16:16248623 GRCh38: Chr16:16154766	ABCC6	R1243Q, R1357Q	Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, Arterial calcification, generalized, of infancy, 2, not provided	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 14311957.	NM_001171.6(ABCC6):c.4069C>T (p.Arg1357Trp) GRCh37: Chr16:16248624 GRCh38: Chr16:16154767	ABCC6	R1357W, R1243W	not provided, Pseudoxanthoma elasticum	Conflicting interpretations of pathogenicity (Sep 26, 2022)	criteria provided, conflicting interpretations
Select item 43334958.	NM_001171.6(ABCC6):c.4060G>C (p.Gly1354Arg) GRCh37: Chr16:16248633 GRCh38: Chr16:16154776	ABCC6	G1354R, G1240R	Pseudoxanthoma elasticum	Pathogenic (Mar 1, 2021)	no assertion criteria provided
Select item 43334859.	NM_001171.6(ABCC6):c.4048A>C (p.Ile1350Leu) GRCh37: Chr16:16248645 GRCh38: Chr16:16154788	ABCC6	I1350L, I1236L	Pseudoxanthoma elasticum	Uncertain significance (Feb 16, 2021)	criteria provided, single submitter
Select item 161493660.	NM_001171.6(ABCC6):c.4042-15G>A GRCh37: Chr16:16248666 GRCh38: Chr16:16154809	ABCC6		Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, Arterial calcification, generalized, of infancy, 2, not provided	Likely benign (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 59939961.	NM_001171.6(ABCC6):c.4041G>A (p.Gln1347=) GRCh37: Chr16:16248730 GRCh38: Chr16:16154873	ABCC6		Pseudoxanthoma elasticum	Pathogenic	criteria provided, single submitter
Select item 43334762.	NM_001171.6(ABCC6):c.4041G>C (p.Gln1347His) GRCh37: Chr16:16248730 GRCh38: Chr16:16154873	ABCC6	Q1347H, Q1233H	Pseudoxanthoma elasticum	Pathogenic (Mar 1, 2021)	criteria provided, single submitter
Select item 43334663.	NM_001171.6(ABCC6):c.4036C>T (p.Pro1346Ser) GRCh37: Chr16:16248735 GRCh38: Chr16:16154878	ABCC6	P1346S, P1232S	Pseudoxanthoma elasticum	Uncertain significance (Feb 16, 2021)	no assertion criteria provided
Select item 43334564.	NM_001171.6(ABCC6):c.4025T>C (p.Ile1342Thr) GRCh37: Chr16:16248746 GRCh38: Chr16:16154889	ABCC6	I1342T, I1228T	not provided, Pseudoxanthoma elasticum	Conflicting interpretations of pathogenicity (Apr 6, 2022)	criteria provided, conflicting interpretations
Select item 43334465.	NM_001171.6(ABCC6):c.4016G>T (p.Arg1339Leu) GRCh37: Chr16:16248755 GRCh38: Chr16:16154898	ABCC6	R1339L, R1225L	Pseudoxanthoma elasticum	Uncertain significance (Feb 16, 2021)	no assertion criteria provided
Select item 26502166.	NM_001171.6(ABCC6):c.4016G>A (p.Arg1339His) GRCh37: Chr16:16248755 GRCh38: Chr16:16154898	ABCC6	R1339H, R1225H	not provided, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, Arterial calcification, generalized, of infancy, 2	Pathogenic/Likely pathogenic (Sep 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 657667.	NM_001171.6(ABCC6):c.4015C>T (p.Arg1339Cys) GRCh37: Chr16:16248756 GRCh38: Chr16:16154899	ABCC6	R1339C, R1225C	not provided	Pathogenic (Aug 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43334368.	NM_001171.6(ABCC6):c.4004T>A (p.Leu1335Gln) GRCh37: Chr16:16248767 GRCh38: Chr16:16154910	ABCC6	L1335Q, L1221Q	Pseudoxanthoma elasticum	Pathogenic (Mar 1, 2021)	no assertion criteria provided
Select item 43334269.	NM_001171.6(ABCC6):c.4004T>C (p.Leu1335Pro) GRCh37: Chr16:16248767 GRCh38: Chr16:16154910	ABCC6	L1335P, L1221P	Pseudoxanthoma elasticum	Pathogenic (Mar 1, 2021)	no assertion criteria provided
Select item 43334170.	NM_001171.6(ABCC6):c.3999G>A (p.Val1333=) GRCh37: Chr16:16248772 GRCh38: Chr16:16154915	ABCC6		not provided	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 144847871.	NM_001171.6(ABCC6):c.3997G>A (p.Val1333Met) GRCh37: Chr16:16248774 GRCh38: Chr16:16154917	ABCC6	V1333M, V1219M	not provided, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, Arterial calcification, generalized, of infancy, 2	Uncertain significance (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 145783872.	NM_001171.6(ABCC6):c.3987dup (p.Ile1330fs) GRCh37: Chr16:16248783-16248784 GRCh38: Chr16:16154926-16154927	ABCC6	I1216fs, I1330fs	Arterial 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
Select item 134941373.	NM_001171.6(ABCC6):c.3979G>A (p.Gly1327Arg) GRCh37: Chr16:16248792 GRCh38: Chr16:16154935	ABCC6	G1213R, G1327R	not provided, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, Arterial calcification, generalized, of infancy, 2	Uncertain significance (Jul 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43334074.	NM_001171.6(ABCC6):c.3978C>T (p.Asp1326=) GRCh37: Chr16:16248793 GRCh38: Chr16:16154936	ABCC6		not provided	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 151556975.	NM_001171.6(ABCC6):c.3977A>G (p.Asp1326Gly) GRCh37: Chr16:16248794 GRCh38: Chr16:16154937	ABCC6	D1212G, D1326G	not provided, Arterial calcification, generalized, of infancy, 2, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste	Uncertain significance (Jan 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43348776.	NM_001171.6(ABCC6):c.3976G>T (p.Asp1326Tyr) GRCh37: Chr16:16248795 GRCh38: Chr16:16154938	ABCC6	D1326Y, D1212Y	Pseudoxanthoma elasticum	Uncertain significance (Feb 16, 2021)	no assertion criteria provided
Select item 43333977.	NM_001171.6(ABCC6):c.3971G>A (p.Trp1324Ter) GRCh37: Chr16:16248800 GRCh38: Chr16:16154943	ABCC6	W1324, W1210	not provided, Pseudoxanthoma elasticum, forme fruste	Pathogenic (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 658078.	NM_001171.6(ABCC6):c.3961G>A (p.Gly1321Ser) GRCh37: Chr16:16248810 GRCh38: Chr16:16154953	ABCC6	G1321S, G1207S	Pseudoxanthoma elasticum	Likely pathogenic (Mar 1, 2021)	criteria provided, single submitter
Select item 43349479.	NM_001171.6(ABCC6):c.3953C>G (p.Ala1318Gly) GRCh37: Chr16:16248818 GRCh38: Chr16:16154961	ABCC6	A1318G, A1204G	Pseudoxanthoma elasticum	Likely pathogenic (Mar 1, 2021)	no assertion criteria provided
Select item 40233280.	NM_001171.6(ABCC6):c.3941G>A (p.Arg1314Gln) GRCh37: Chr16:16248830 GRCh38: Chr16:16154973	ABCC6	R1314Q, R1200Q	not specified, Pseudoxanthoma elasticum, not provided	Conflicting interpretations of pathogenicity (Oct 8, 2022)	criteria provided, conflicting interpretations
Select item 656481.	NM_001171.6(ABCC6):c.3940C>T (p.Arg1314Trp) GRCh37: Chr16:16248831 GRCh38: Chr16:16154974	ABCC6	R1314W, R1200W	Arterial calcification, generalized, of infancy, 2, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, not provided	Pathogenic (Oct 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43333882.	NM_001171.6(ABCC6):c.3932G>A (p.Gly1311Glu) GRCh37: Chr16:16248839 GRCh38: Chr16:16154982	ABCC6	G1311E, G1197E	Pseudoxanthoma elasticum	Uncertain significance (Feb 16, 2021)	no assertion criteria provided
Select item 43333783.	NM_001171.6(ABCC6):c.3919T>C (p.Ser1307Pro) GRCh37: Chr16:16248852 GRCh38: Chr16:16154995	ABCC6	S1307P, S1193P	Pseudoxanthoma elasticum	Likely pathogenic (Mar 1, 2021)	no assertion criteria provided
Select item 43333684.	NM_001171.6(ABCC6):c.3912del (p.Lys1305fs) GRCh37: Chr16:16248859 GRCh38: Chr16:16155002	ABCC6	K1305fs, K1191fs	Pseudoxanthoma elasticum	Likely pathogenic (Mar 2, 2021)	no assertion criteria provided
Select item 43333585.	NM_001171.6(ABCC6):c.3907G>C (p.Ala1303Pro) GRCh37: Chr16:16248864 GRCh38: Chr16:16155007	ABCC6	A1303P, A1189P	not provided	Pathogenic (Jul 6, 2022)	criteria provided, single submitter
Select item 657986.	NM_001171.6(ABCC6):c.3904G>A (p.Gly1302Arg) GRCh37: Chr16:16248867 GRCh38: Chr16:16155010	ABCC6	G1302R, G1188R	Arterial calcification, generalized, of infancy, 2, Pseudoxanthoma elasticum, forme fruste, Pseudoxanthoma elasticum, not provided	Pathogenic/Likely pathogenic (Aug 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 128466087.	NM_001171.6(ABCC6):c.3903C>T (p.Thr1301=) GRCh37: Chr16:16248868 GRCh38: Chr16:16155011	ABCC6		not provided, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, Arterial calcification, generalized, of infancy, 2	Likely benign (Oct 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43333488.	NM_001171.6(ABCC6):c.3902C>T (p.Thr1301Ile) GRCh37: Chr16:16248869 GRCh38: Chr16:16155012	ABCC6	T1301I, T1187I	not provided, Pseudoxanthoma elasticum	Pathogenic/Likely pathogenic (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43333389.	NM_001171.6(ABCC6):c.3895G>A (p.Gly1299Ser) GRCh37: Chr16:16248876 GRCh38: Chr16:16155019	ABCC6	G1299S, G1185S	Pseudoxanthoma elasticum	Pathogenic (Mar 1, 2021)	no assertion criteria provided
Select item 657890.	NM_001171.6(ABCC6):c.3892G>T (p.Val1298Phe) GRCh37: Chr16:16248879 GRCh38: Chr16:16155022	ABCC6	V1298F, V1184F	Pseudoxanthoma elasticum	Pathogenic (Mar 1, 2021)	criteria provided, single submitter
Select item 158751891.	NM_001171.6(ABCC6):c.3891C>T (p.Ile1297=) GRCh37: Chr16:16248880 GRCh38: Chr16:16155023	ABCC6		not provided, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, Arterial calcification, generalized, of infancy, 2	Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 145655292.	NM_001171.6(ABCC6):c.3887G>A (p.Gly1296Asp) GRCh37: Chr16:16248884 GRCh38: Chr16:16155027	ABCC6	G1296D, G1182D	not provided, Arterial calcification, generalized, of infancy, 2, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste	Pathogenic/Likely pathogenic (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43339593.	NM_001171.6(ABCC6):c.3883-5G>A GRCh37: Chr16:16248893 GRCh38: Chr16:16155036	ABCC6		Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, Arterial calcification, generalized, of infancy, 2, Pseudoxanthoma elasticum	Uncertain significance (Aug 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 43339494.	NM_001171.6(ABCC6):c.3883-6G>A GRCh37: Chr16:16248894 GRCh38: Chr16:16155037	ABCC6		not provided, Arterial calcification, generalized, of infancy, 2, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste	Pathogenic/Likely pathogenic (Oct 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43346895.	NM_001171.6(ABCC6):c.3883-10C>G GRCh37: Chr16:16248898 GRCh38: Chr16:16155041	ABCC6		Pseudoxanthoma elasticum	Uncertain significance (Feb 16, 2021)	no assertion criteria provided
Select item 43341896.	NM_001171.6(ABCC6):c.3883-24G>A GRCh37: Chr16:16248912 GRCh38: Chr16:16155055	ABCC6		Arterial calcification, generalized, of infancy, 2, Pseudoxanthoma elasticum, forme fruste, Pseudoxanthoma elasticum	Benign (Dec 5, 2021)	criteria provided, single submitter
Select item 43342397.	NM_001171.6(ABCC6):c.3307-1006_3883-1050del GRCh37: Chr16:16249938-16258055 GRCh38: Chr16:16156081-16164198	ABCC6		Pseudoxanthoma elasticum	Uncertain significance (Mar 12, 2021)	no assertion criteria provided
Select item 118897898.	NM_001171.6(ABCC6):c.3882+85C>T GRCh37: Chr16:16251435 GRCh38: Chr16:16157578	ABCC6		Pseudoxanthoma elasticum, not provided, Arterial calcification, generalized, of infancy, 2, Pseudoxanthoma elasticum, forme fruste	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 150910399.	NM_001171.6(ABCC6):c.3882+5G>A GRCh37: Chr16:16251515 GRCh38: Chr16:16157658	ABCC6		Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, Arterial calcification, generalized, of infancy, 2, not provided	Uncertain significance (Aug 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 433515100.	NM_001171.6(ABCC6):c.3876_3882+1del GRCh37: Chr16:16251519-16251526 GRCh38: Chr16:16157662-16157669	ABCC6		Pseudoxanthoma elasticum	Likely pathogenic (Mar 2, 2021)	no assertion criteria provided

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