Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001171.6(ABCC6):c.3421C>T (p.Arg1141Ter)	SNV Germline	Chr16:16163078	Pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Arterial calcification, generalized, of infancy, 2 Condition: not provided Cutis laxa Papule Pseudoxanthoma elasticum, forme fruste Autosomal recessive inherited pseudoxanthoma elasticum Arterial calcification, generalized, of infancy, 2 ABCC6-related disorder See cases	Criteria Provided Multiple Submitters No Conflicts	CA129115	rs_72653706	29 SubmittersRCV000006937 RCV000023272 RCV000254838 RCV000415101 RCV000762959 RCV002291267 RCV002251886
NM_001171.6(ABCC6):c.2787+1G>T	SNV Germline	Chr16:16173283	Pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Arterial calcification, generalized, of infancy, 2 Condition: not provided Pseudoxanthoma elasticum, forme fruste Autosomal recessive inherited pseudoxanthoma elasticum Arterial calcification, generalized, of infancy, 2 ABCC6-related disorder Pseudoxanthoma elasticum	Criteria Provided Multiple Submitters No Conflicts	CA150651	rs_72664209	14 SubmittersRCV000006938 RCV000087145 RCV000254806 RCV000763363 RCV004532303 RCV005055506
NM_001171.6(ABCC6):c.3413G>A (p.Arg1138Gln)	SNV Germline	Chr16:16163086	Pathogenic/Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2	Criteria Provided Multiple Submitters No Conflicts	CA281565	rs_60791294	8 SubmittersRCV000006939 RCV000731285 RCV002496287
NM_001171.6(ABCC6):c.3341G>C (p.Arg1114Pro)	SNV Germline	Chr16:16163158	Pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Condition: not provided ABCC6-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA281567	rs_63750427	4 SubmittersRCV000006940 RCV002512858 RCV004532304
NM_001171.6(ABCC6):c.3940C>T (p.Arg1314Trp)	SNV Germline	Chr16:16154974	Pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Arterial calcification, generalized, of infancy, 2 Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2	Criteria Provided Multiple Submitters No Conflicts	CA129117	rs_63750759	6 SubmittersRCV000006942 RCV000023273 RCV000254915 RCV001535919
NM_001171.6(ABCC6):c.3389C>T (p.Thr1130Met)	SNV Germline	Chr16:16163110	Pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Abnormality of the eye Arterial calcification, generalized, of infancy, 2 Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Condition: not provided Arterial calcification, generalized, of infancy, 2	Criteria Provided Multiple Submitters No Conflicts	CA281571	rs_63750459	6 SubmittersRCV000006947 RCV000505108 RCV002504757 RCV002512859 RCV005603585
NM_001171.6(ABCC6):c.3412C>T (p.Arg1138Trp)	SNV Germline	Chr16:16163087	Pathogenic/Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2 Condition: not provided ABCC6-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA281573	rs_28939701	8 SubmittersRCV000006949 RCV000762960 RCV000255802 RCV004532305
NM_001171.6(ABCC6):c.3490C>T (p.Arg1164Ter)	SNV Germline	Chr16:16163009	Pathogenic/Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Condition: not provided See cases Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2 ABCC6-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA281575	rs_72653744	10 SubmittersRCV000006950 RCV000255402 RCV002251887 RCV001536083 RCV004737138
NM_001171.6(ABCC6):c.3736-1G>A	SNV Germline	Chr16:16157810	Pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Arterial calcification, generalized, of infancy, 2 Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA129119	rs_63750273	7 SubmittersRCV000006952 RCV000023274 RCV005016251 RCV002512860
NM_001171.6(ABCC6):c.4015C>T (p.Arg1339Cys)	SNV Germline	Chr16:16154899	Pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA281577	rs_28939702	6 SubmittersRCV000006954 RCV001781196
NM_001171.6(ABCC6):c.3892G>T (p.Val1298Phe)	SNV Germline	Chr16:16155022	Pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	Criteria Provided Single Submitter	CA281581	rs_63751325	2 SubmittersRCV000006956
NM_001171.6(ABCC6):c.3904G>A (p.Gly1302Arg)	SNV Germline	Chr16:16155010	Pathogenic/Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2 ABCC6-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA281583	rs_63749856	9 SubmittersRCV000006957 RCV000255838 RCV000762958 RCV004737139
NM_001171.6(ABCC6):c.3961G>A (p.Gly1321Ser)	SNV Germline	Chr16:16154953	Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	Criteria Provided Single Submitter	CA281585	rs_63749823	2 SubmittersRCV000006958
NM_001171.6(ABCC6):c.3712G>C (p.Asp1238His)	SNV Germline	Chr16:16159505	Pathogenic/Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	No Assertion Criteria Provided	CA281587	rs_63749796	2 SubmittersRCV000006959
NM_001171.6(ABCC6):c.2294G>A (p.Arg765Gln)	SNV Germline	Chr16:16178919	Pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Arterial calcification, generalized, of infancy, 2 Condition: not provided Arterial calcification, generalized, of infancy, 2 Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste	Criteria Provided Multiple Submitters No Conflicts	CA129120	rs_67561842	7 SubmittersRCV000023275 RCV000023276 RCV001090336 RCV005007891
NM_001171.6(ABCC6):c.4216C>A (p.Gln1406Lys)	SNV Germline	Chr16:16150765	Pathogenic	Arterial calcification, generalized, of infancy, 2 Autosomal recessive inherited pseudoxanthoma elasticum	No Assertion Criteria Provided	CA129122	rs_387906859	2 SubmittersRCV000023278 RCV000023277
NM_001171.6(ABCC6):c.1552C>T (p.Arg518Ter)	SNV Germline	Chr16:16190247	Pathogenic	Arterial calcification, generalized, of infancy, 2 Autosomal recessive inherited pseudoxanthoma elasticum Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Condition: not provided Arterial calcification, generalized, of infancy, 2 Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste ABCC6-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA129124	rs_72650700	11 SubmittersRCV000023279 RCV000023280 RCV000191057 RCV000429924 RCV002477007 RCV004528132
NM_001171.6(ABCC6):c.4069C>T (p.Arg1357Trp)	SNV Germline	Chr16:16154767	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2	Criteria Provided Conflicting Classifications	CA232835	rs_63750428	6 SubmittersRCV000132641 RCV000499136 RCV005359305
NM_001171.6(ABCC6):c.4016G>A (p.Arg1339His)	SNV Germline	Chr16:16154898	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2	Criteria Provided Multiple Submitters No Conflicts	CA7925347	rs_63750622	4 SubmittersRCV000255253 RCV000499080 RCV002500955
NM_001171.6(ABCC6):c.3398G>C (p.Gly1133Ala)	SNV Germline	Chr16:16163101	Likely pathogenic	Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum	Criteria Provided Multiple Submitters No Conflicts	CA10588595	rs_63750473	2 SubmittersRCV000255412 RCV000499057
NM_001171.6(ABCC6):c.1553G>A (p.Arg518Gln)	SNV Germline	Chr16:16190246	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2 ABCC6-related disorder Arterial calcification, generalized, of infancy, 2 Autosomal recessive inherited pseudoxanthoma elasticum	Criteria Provided Multiple Submitters No Conflicts	CA7926272	rs_72653772	7 SubmittersRCV000255202 RCV000763364 RCV004535233 RCV005603616 RCV000499158
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly)	SNV Germline	Chr16:16202006	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum not specified Arterial calcification, generalized, of infancy, 2 ABCC6-related disorder Retinal dystrophy Pseudoxanthoma elasticum, forme fruste Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2	Criteria Provided Conflicting Classifications	CA7926447	rs_72653762	14 SubmittersRCV000256117 RCV000499064 RCV000455861 RCV002288946 RCV004535232 RCV004816464 RCV004576935 RCV005016653
NM_001171.6(ABCC6):c.742C>T (p.Leu248Phe)	SNV Germline	Chr16:16208780	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum ABCC6-related disorder Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2	Criteria Provided Conflicting Classifications	CA7926582	rs_72653756	9 SubmittersRCV000300804 RCV000499195 RCV002291274 RCV005016665
NM_001171.6(ABCC6):c.1424A>T (p.His475Leu)	SNV Germline	Chr16:16192837	Conflicting classifications of pathogenicity	Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2 Retinal dystrophy Autosomal recessive inherited pseudoxanthoma elasticum Condition: not provided	Criteria Provided Conflicting Classifications	CA7926314	rs_151187637	6 SubmittersRCV000765256 RCV004816517 RCV000502001 RCV000513133
NM_001171.6(ABCC6):c.3491G>A (p.Arg1164Gln)	SNV Germline	Chr16:16163008	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum Arterial calcification, generalized, of infancy, 2 Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste ABCC6-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA7925569	rs_63750457	6 SubmittersRCV000413984 RCV000499335 RCV002481269 RCV004530508
NM_001171.6(ABCC6):c.496C>T (p.Arg166Cys)	SNV Germline	Chr16:16214428	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum ABCC6-related disorder Arterial calcification, generalized, of infancy, 2 Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste	Criteria Provided Conflicting Classifications	CA7926628	rs_201766106	5 SubmittersRCV000413335 RCV000499286 RCV004737461 RCV005010310
NM_001171.6(ABCC6):c.1132C>T (p.Gln378Ter)	SNV Germline	Chr16:16202045	Pathogenic	Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum Arterial calcification, generalized, of infancy, 2 Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste ABCC6-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA7926457	rs_72650699	6 SubmittersRCV000413373 RCV000499037 RCV002481268 RCV004530507
NM_001171.6(ABCC6):c.754C>T (p.Leu252Phe)	SNV Germline	Chr16:16208768	Conflicting classifications of pathogenicity	not specified Autosomal recessive inherited pseudoxanthoma elasticum Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2	Criteria Provided Conflicting Classifications	CA7926577	rs_72653757	3 SubmittersRCV000419346 RCV000499344 RCV005010324
NM_001171.6(ABCC6):c.841A>G (p.Lys281Glu)	SNV Germline	Chr16:16203567	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum	Criteria Provided Conflicting Classifications	CA7926531	rs_879274205	2 SubmittersRCV000425196 RCV000499224
NM_001171.6(ABCC6):c.2848G>A (p.Ala950Thr)	SNV Germline	Chr16:16169793	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2 ABCC6-related disorder	Criteria Provided Conflicting Classifications	CA7925767	rs_72657689	7 SubmittersRCV000437137 RCV000499095 RCV002253430 RCV002253431 RCV004533000
NM_001171.6(ABCC6):c.3415G>A (p.Ala1139Thr)	SNV Germline	Chr16:16163084	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2	Criteria Provided Conflicting Classifications	CA7925588	rs_63750146	5 SubmittersRCV000426908 RCV000499199 RCV005018725
NM_001171.6(ABCC6):c.2420G>A (p.Arg807Gln)	SNV Germline	Chr16:16177622	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum ABCC6-related disorder Arterial calcification, generalized, of infancy, 2 Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2	Criteria Provided Multiple Submitters No Conflicts	CA7925918	rs_72653794	8 SubmittersRCV000418691 RCV000499152 RCV004529573 RCV005230336 RCV005018726
NM_001171.6(ABCC6):c.2018T>C (p.Leu673Pro)	SNV Germline	Chr16:16182856	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum	Criteria Provided Multiple Submitters No Conflicts	CA7926056	rs_67470842	3 SubmittersRCV000444456 RCV000499274
NM_001171.6(ABCC6):c.3941G>A (p.Arg1314Gln)	SNV Germline	Chr16:16154973	Conflicting classifications of pathogenicity	not specified Autosomal recessive inherited pseudoxanthoma elasticum Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2	Criteria Provided Conflicting Classifications	CA16609774	rs_63751086	4 SubmittersRCV000454613 RCV000499038 RCV001383425 RCV005018743
NM_001171.6(ABCC6):c.4081G>A (p.Asp1361Asn)	SNV Germline	Chr16:16154755	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum	Criteria Provided Conflicting Classifications	CA7925316	rs_58695352	3 SubmittersRCV000483462 RCV000499266
NM_001171.6(ABCC6):c.2359G>A (p.Val787Ile)	SNV Germline	Chr16:16178854	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum Arterial calcification, generalized, of infancy, 2 Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste	Criteria Provided Conflicting Classifications	CA7925951	rs_72653792	6 SubmittersRCV000483030 RCV000991178 RCV005018799
NM_001171.6(ABCC6):c.2428G>A (p.Val810Met)	SNV Germline	Chr16:16177614	Conflicting classifications of pathogenicity	Condition: not provided Arterial calcification, generalized, of infancy, 2 Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Autosomal recessive inherited pseudoxanthoma elasticum	Criteria Provided Conflicting Classifications	CA7925916	rs_72653795	4 SubmittersRCV000489525 RCV002481553 RCV000499307
NM_001171.6(ABCC6):c.1868-5T>G	SNV Germline	Chr16:16185039	Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Condition: not provided Arterial calcification, generalized, of infancy, 2 Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste	Criteria Provided Multiple Submitters No Conflicts	CA7926120	rs_72664207	4 SubmittersRCV000499193 RCV000488965 RCV005018823
NM_001171.6(ABCC6):c.2591-1G>T	SNV Germline	Chr16:16175987	Likely pathogenic	Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2	Criteria Provided Multiple Submitters No Conflicts	CA394887107	rs_1131691865	3 SubmittersRCV000493957 RCV005018830
NM_001171.6(ABCC6):c.1256G>A (p.Arg419Gln)	SNV Germline	Chr16:16198103	Pathogenic/Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2	Criteria Provided Multiple Submitters No Conflicts	CA7926390	rs_772434460	7 SubmittersRCV000499218 RCV000492873 RCV002496898
NM_001171.6(ABCC6):c.4501G>A (p.Gly1501Ser)	SNV Germline	Chr16:16150144	Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	Criteria Provided Single Submitter	CA278674989	rs_63750874	1 SubmittersRCV000499131
NM_001171.6(ABCC6):c.4420A>T (p.Lys1474Ter)	SNV Germline	Chr16:16150225	Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	No Assertion Criteria Provided	CA278675040	rs_72653751	1 SubmittersRCV000499356
NM_001171.6(ABCC6):c.4403+1G>T	SNV Germline	Chr16:16150577	Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	No Assertion Criteria Provided	CA394883664	rs_1006994885	1 SubmittersRCV000499281
NM_001171.6(ABCC6):c.4341G>A (p.Trp1447Ter)	SNV Germline	Chr16:16150640	Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	No Assertion Criteria Provided	CA394883793	rs_1333662666	1 SubmittersRCV000499263
NM_001171.6(ABCC6):c.4213G>A (p.Gly1405Ser)	SNV Germline	Chr16:16150768	Pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	No Assertion Criteria Provided	CA278675411	rs_947230593	1 SubmittersRCV000499309
NM_001171.6(ABCC6):c.4209C>A (p.Ser1403Arg)	SNV Germline	Chr16:16150772	Pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	No Assertion Criteria Provided	CA7925255	rs_63750700	1 SubmittersRCV000499150
NM_001171.6(ABCC6):c.4209-2A>C	SNV Germline	Chr16:16150774	Pathogenic/Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA394884115	rs_1555506740	4 SubmittersRCV000499019 RCV003558411
NM_001171.6(ABCC6):c.4198G>A (p.Glu1400Lys)	SNV Germline	Chr16:16154638	Pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA7925287	rs_63751241	3 SubmittersRCV000499034 RCV005356007 RCV001857051
NM_001171.6(ABCC6):c.4192C>T (p.Arg1398Ter)	SNV Germline	Chr16:16154644	Pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA7925290	rs_66913554	3 SubmittersRCV000499242 RCV002524116
NM_001171.6(ABCC6):c.4060G>C (p.Gly1354Arg)	SNV Germline	Chr16:16154776	Pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	No Assertion Criteria Provided	CA278676822	rs_63750018	1 SubmittersRCV000499341
NM_001171.6(ABCC6):c.4041G>C (p.Gln1347His)	SNV Germline	Chr16:16154873	Pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	Criteria Provided Single Submitter	CA278676858	rs_63751111	1 SubmittersRCV000499117
NM_001171.6(ABCC6):c.4025T>C (p.Ile1342Thr)	SNV Germline	Chr16:16154889	Conflicting classifications of pathogenicity	Autosomal recessive inherited pseudoxanthoma elasticum Condition: not provided	Criteria Provided Conflicting Classifications	CA278625336	rs_63750608	2 SubmittersRCV000499194 RCV002527164
NM_001171.6(ABCC6):c.4004T>C (p.Leu1335Pro)	SNV Germline	Chr16:16154910	Pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	No Assertion Criteria Provided	CA278625382	rs_63750414	1 SubmittersRCV000499319
NM_001171.6(ABCC6):c.4004T>A (p.Leu1335Gln)	SNV Germline	Chr16:16154910	Pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	No Assertion Criteria Provided	CA278625390	rs_63750414	1 SubmittersRCV000499074
NM_001171.6(ABCC6):c.3971G>A (p.Trp1324Ter)	SNV Germline	Chr16:16154943	Pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA278625482	rs_72653750	3 SubmittersRCV000499290 RCV002298628 RCV001857049
NM_001171.6(ABCC6):c.3953C>G (p.Ala1318Gly)	SNV Germline	Chr16:16154961	Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	No Assertion Criteria Provided	CA7925367	rs_780887287	1 SubmittersRCV000499159
NM_001171.6(ABCC6):c.3919T>C (p.Ser1307Pro)	SNV Germline	Chr16:16154995	Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	No Assertion Criteria Provided	CA278625550	rs_63751318	1 SubmittersRCV000499015
NM_001171.6(ABCC6):c.3907G>C (p.Ala1303Pro)	SNV Germline	Chr16:16155007	Pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Condition: not provided	Criteria Provided Single Submitter	CA7925374	rs_63750410	2 SubmittersRCV000499103 RCV001857048
NM_001171.6(ABCC6):c.3902C>T (p.Thr1301Ile)	SNV Germline	Chr16:16155012	Pathogenic/Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA278625576	rs_63750494	2 SubmittersRCV000499236 RCV001857047
NM_001171.6(ABCC6):c.3895G>A (p.Gly1299Ser)	SNV Germline	Chr16:16155019	Pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	No Assertion Criteria Provided	CA278625591	rs_63750446	1 SubmittersRCV000499145
NM_001171.6(ABCC6):c.3883-6G>A	SNV Germline	Chr16:16155037	Pathogenic/Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA7925382	rs_72664214	7 SubmittersRCV000499155 RCV001383426 RCV002490820 RCV004817717
NM_001171.6(ABCC6):c.3823C>T (p.Arg1275Ter)	SNV Germline	Chr16:16157722	Pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2	Criteria Provided Multiple Submitters No Conflicts	CA7925412	rs_72653749	4 SubmittersRCV000499179 RCV001731722 RCV002481598
NM_001171.6(ABCC6):c.3790C>T (p.Gln1264Ter)	SNV Germline	Chr16:16157755	Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	No Assertion Criteria Provided	CA394877887	rs_1311228469	1 SubmittersRCV000499210
NM_001171.6(ABCC6):c.3787G>A (p.Gly1263Arg)	SNV Germline	Chr16:16157758	Conflicting classifications of pathogenicity	Autosomal recessive inherited pseudoxanthoma elasticum Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2	Criteria Provided Conflicting Classifications	CA7925417	rs_760376992	3 SubmittersRCV000499182 RCV001857056 RCV002506215
NM_001171.6(ABCC6):c.3777G>A (p.Trp1259Ter)	SNV Germline	Chr16:16157768	Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	No Assertion Criteria Provided	CA394877959	rs_1555507925	1 SubmittersRCV000499027
NM_001171.6(ABCC6):c.3735G>T (p.Glu1245Asp)	SNV Germline	Chr16:16159482	Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Condition: not provided	Criteria Provided Single Submitter	CA7925475	rs_281865557	2 SubmittersRCV000499284 RCV004696922
NM_001171.6(ABCC6):c.3722G>A (p.Trp1241Ter)	SNV Germline	Chr16:16159495	Pathogenic/Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA278628730	rs_72653748	2 SubmittersRCV000499086 RCV002527163
NM_001171.6(ABCC6):c.3717T>G (p.Tyr1239Ter)	SNV Germline	Chr16:16159500	Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	No Assertion Criteria Provided	CA278628734	rs_72653747	1 SubmittersRCV000499172
NM_001171.6(ABCC6):c.3709C>T (p.Gln1237Ter)	SNV Germline	Chr16:16159508	Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	No Assertion Criteria Provided	CA278628748	rs_72653746	1 SubmittersRCV000499148
NM_001171.6(ABCC6):c.3703C>T (p.Arg1235Trp)	SNV Germline	Chr16:16159514	Pathogenic/Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA7925480	rs_63750402	3 SubmittersRCV000499053 RCV002481600 RCV002524114
NM_001171.6(ABCC6):c.3668G>A (p.Trp1223Ter)	SNV Germline	Chr16:16159549	Pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Condition: not provided	Criteria Provided Single Submitter	CA278628812	rs_72653745	2 SubmittersRCV000499144 RCV003558409
NM_001171.6(ABCC6):c.3662G>A (p.Arg1221His)	SNV Germline	Chr16:16159555	Pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2	Criteria Provided Multiple Submitters No Conflicts	CA7925487	rs_63751001	5 SubmittersRCV000499367 RCV001310321 RCV002496927
NM_001171.6(ABCC6):c.3661C>T (p.Arg1221Cys)	SNV Germline	Chr16:16159556	Pathogenic/Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2 ABCC6-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA7925488	rs_63751215	5 SubmittersRCV000499272 RCV001558931 RCV002475993 RCV004535569
NM_001171.6(ABCC6):c.3634-3C>A	SNV Germline	Chr16:16159586	Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2	Criteria Provided Multiple Submitters No Conflicts	CA7925496	rs_72664212	3 SubmittersRCV000499039 RCV002524117 RCV005018846
NM_001171.6(ABCC6):c.3633+1G>A	SNV Germline	Chr16:16161437	Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	No Assertion Criteria Provided	CA394879495	rs_1555508604	1 SubmittersRCV000499312
NM_001171.6(ABCC6):c.3507-1G>A	SNV Germline	Chr16:16161565	Pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2 Condition: not provided ABCC6-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA7925541	rs_72664210	6 SubmittersRCV000499077 RCV001536007 RCV001782998 RCV004737570
NM_001171.6(ABCC6):c.3427C>T (p.Gln1143Ter)	SNV Germline	Chr16:16163072	Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	Criteria Provided Single Submitter	CA278631466	rs_72653743	1 SubmittersRCV000499065
NM_001171.6(ABCC6):c.3413G>C (p.Arg1138Pro)	SNV Germline	Chr16:16163086	Pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	Criteria Provided Single Submitter	CA278631498	rs_60791294	1 SubmittersRCV000499087
NM_001171.6(ABCC6):c.3397G>T (p.Gly1133Cys)	SNV Germline	Chr16:16163102	Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	No Assertion Criteria Provided	CA278631529	rs_63749807	1 SubmittersRCV000499302
NM_001171.6(ABCC6):c.3381G>A (p.Met1127Ile)	SNV Germline	Chr16:16163118	Conflicting classifications of pathogenicity	Autosomal recessive inherited pseudoxanthoma elasticum Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA7925593	rs_63750758	3 SubmittersRCV000499050 RCV002496926 RCV002524113
NM_001171.6(ABCC6):c.3362C>T (p.Ser1121Leu)	SNV Germline	Chr16:16163137	Pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Condition: not provided	Criteria Provided Single Submitter	CA7925599	rs_63750987	2 SubmittersRCV000499025 RCV003558408
NM_001171.6(ABCC6):c.3362C>G (p.Ser1121Trp)	SNV Germline	Chr16:16163137	Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	Criteria Provided Single Submitter	CA278631651	rs_63750987	1 SubmittersRCV000499270
NM_001171.6(ABCC6):c.3341G>A (p.Arg1114His)	SNV Germline	Chr16:16163158	Pathogenic/Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2 Arterial calcification, generalized, of infancy, 2	Criteria Provided Multiple Submitters No Conflicts	CA7925603	rs_63750427	4 SubmittersRCV000499040 RCV001865582 RCV002496925 RCV005230973
NM_001171.6(ABCC6):c.3340C>T (p.Arg1114Cys)	SNV Germline	Chr16:16163159	Pathogenic/Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2	Criteria Provided Multiple Submitters No Conflicts	CA7925604	rs_63749794	8 SubmittersRCV000499109 RCV001857045 RCV002489227
NM_001171.6(ABCC6):c.3207C>A (p.Tyr1069Ter)	SNV Germline	Chr16:16165722	Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	No Assertion Criteria Provided	CA278632971	rs_60975032	1 SubmittersRCV000499346
NM_001171.6(ABCC6):c.3188T>G (p.Leu1063Arg)	SNV Germline	Chr16:16165741	Pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Condition: not provided	Criteria Provided Single Submitter	CA278633021	rs_72657695	2 SubmittersRCV000499128 RCV001851392
NM_001171.6(ABCC6):c.3168C>A (p.Asp1056Glu)	SNV Germline	Chr16:16165761	Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	No Assertion Criteria Provided	CA278633089	rs_72657694	1 SubmittersRCV000499329
NM_001171.6(ABCC6):c.3088C>T (p.Arg1030Ter)	SNV Germline	Chr16:16165841	Pathogenic/Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA278633213	rs_72653705	5 SubmittersRCV000499322 RCV001591134
NM_001171.6(ABCC6):c.3074T>C (p.Leu1025Pro)	SNV Germline	Chr16:16165855	Conflicting classifications of pathogenicity	Autosomal recessive inherited pseudoxanthoma elasticum Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2	Criteria Provided Conflicting Classifications	CA394883273	rs_1555509499	2 SubmittersRCV000499355 RCV005018847
NM_001171.6(ABCC6):c.2974G>C (p.Gly992Arg)	SNV Germline	Chr16:16169667	Pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Condition: not provided	Criteria Provided Single Submitter	CA7925729	rs_72657692	2 SubmittersRCV000499211 RCV003558407
NM_001171.6(ABCC6):c.2974G>A (p.Gly992Arg)	SNV Germline	Chr16:16169667	Pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Condition: not provided	Criteria Provided Single Submitter	CA7925730	rs_72657692	2 SubmittersRCV000499248 RCV001865586
NM_001171.6(ABCC6):c.2858T>A (p.Leu953His)	SNV Germline	Chr16:16169783	Conflicting classifications of pathogenicity	Autosomal recessive inherited pseudoxanthoma elasticum Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2	Criteria Provided Conflicting Classifications	CA7925764	rs_72657700	4 SubmittersRCV000499181 RCV001857044 RCV005010422
NM_001171.6(ABCC6):c.2814C>G (p.Tyr938Ter)	SNV Germline	Chr16:16169827	Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	Criteria Provided Single Submitter	CA7925777	rs_72653704	1 SubmittersRCV000499126
NM_001171.6(ABCC6):c.2678C>G (p.Ser893Ter)	SNV Germline	Chr16:16173393	Pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Condition: not provided	Criteria Provided Single Submitter	CA394886274	rs_1481200467	2 SubmittersRCV000499139 RCV002524122
NM_001171.6(ABCC6):c.2524C>T (p.Gln842Ter)	SNV Germline	Chr16:16177518	Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	No Assertion Criteria Provided	CA278644238	rs_72653703	1 SubmittersRCV000499293
NM_001171.6(ABCC6):c.2477T>C (p.Leu826Pro)	SNV Germline	Chr16:16177565	Conflicting classifications of pathogenicity	Autosomal recessive inherited pseudoxanthoma elasticum Condition: not provided Retinal dystrophy Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2	Criteria Provided Conflicting Classifications	CA7925906	rs_72653798	4 SubmittersRCV000499287 RCV001857043 RCV004817716 RCV005018845
NM_001171.6(ABCC6):c.2458G>C (p.Ala820Pro)	SNV Germline	Chr16:16177584	Pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	No Assertion Criteria Provided	CA7925909	rs_72653797	1 SubmittersRCV000499178
NM_001171.6(ABCC6):c.2432C>T (p.Thr811Met)	SNV Germline	Chr16:16177610	Pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Condition: not provided Arterial calcification, generalized, of infancy, 2 Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste	Criteria Provided Multiple Submitters No Conflicts	CA7925914	rs_72653796	4 SubmittersRCV000499238 RCV001857042 RCV005010420
NM_001171.6(ABCC6):c.2432C>G (p.Thr811Arg)	SNV Germline	Chr16:16177610	Pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	No Assertion Criteria Provided	CA7925915	rs_72653796	1 SubmittersRCV000499278
NM_001171.6(ABCC6):c.2419C>T (p.Arg807Trp)	SNV Germline	Chr16:16177623	Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA7925919	rs_72653793	4 SubmittersRCV000499031 RCV005010421 RCV001851390
NM_001171.6(ABCC6):c.2359G>T (p.Val787Phe)	SNV Germline	Chr16:16178854	Pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	Criteria Provided Single Submitter	CA278645265	rs_72653792	1 SubmittersRCV000499188
NM_001171.6(ABCC6):c.2304C>A (p.Tyr768Ter)	SNV Germline	Chr16:16178909	Pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Condition: not provided	Criteria Provided Single Submitter	CA278645357	rs_66492417	2 SubmittersRCV000499365 RCV003558406
NM_001171.6(ABCC6):c.2297C>A (p.Ala766Asp)	SNV Germline	Chr16:16178916	Pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	No Assertion Criteria Provided	CA278645376	rs_72653789	1 SubmittersRCV000499251
NM_001171.6(ABCC6):c.2293C>T (p.Arg765Trp)	SNV Germline	Chr16:16178920	Pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Condition: not provided	Criteria Provided Single Submitter	CA7925962	rs_776513864	2 SubmittersRCV000499165 RCV001857055
NM_001171.6(ABCC6):c.2279G>A (p.Arg760Gln)	SNV Germline	Chr16:16178934	Pathogenic/Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2	Criteria Provided Multiple Submitters No Conflicts	CA7925964	rs_769405586	3 SubmittersRCV000499052 RCV001857054 RCV005018848
NM_001171.6(ABCC6):c.2278C>T (p.Arg760Trp)	SNV Germline	Chr16:16178935	Pathogenic/Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2	Criteria Provided Multiple Submitters No Conflicts	CA7925965	rs_72653788	6 SubmittersRCV000499338 RCV001782997 RCV002475992
NM_001171.6(ABCC6):c.2263G>A (p.Gly755Arg)	SNV Germline	Chr16:16178950	Pathogenic/Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Retinal dystrophy Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2	Criteria Provided Multiple Submitters No Conflicts	CA7925966	rs_72653787	6 SubmittersRCV000499201 RCV004817715 RCV001857041 RCV005010418
NM_001171.6(ABCC6):c.2252T>A (p.Met751Lys)	SNV Germline	Chr16:16178961	Pathogenic/Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2 Optic atrophy ABCC6-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA278645448	rs_72653786	5 SubmittersRCV000499091 RCV001857040 RCV005018844 RCV004817714 RCV004737568
NM_001171.6(ABCC6):c.2245C>T (p.Gln749Ter)	SNV Germline	Chr16:16182414	Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	No Assertion Criteria Provided	CA278647831	rs_66616070	1 SubmittersRCV000499343
NM_001171.6(ABCC6):c.2177T>C (p.Leu726Pro)	SNV Germline	Chr16:16182482	Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	Criteria Provided Single Submitter	CA278647884	rs_72653785	1 SubmittersRCV000499059
NM_001171.6(ABCC6):c.2162G>A (p.Trp721Ter)	SNV Germline	Chr16:16182497	Pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2	Criteria Provided Multiple Submitters No Conflicts	CA278647900	rs_72650701	3 SubmittersRCV000499081 RCV001865580 RCV002481597
NM_001171.6(ABCC6):c.2153A>G (p.Asp718Gly)	SNV Germline	Chr16:16182506	Pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	No Assertion Criteria Provided	CA394888419	rs_1357894483	1 SubmittersRCV000499020
NM_001171.6(ABCC6):c.2125G>T (p.Glu709Ter)	SNV Germline	Chr16:16182534	Pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Condition: not provided	Criteria Provided Single Submitter	CA394888480	rs_114303883	2 SubmittersRCV000499175 RCV003558412
NM_001171.6(ABCC6):c.2097G>T (p.Glu699Asp)	SNV Germline	Chr16:16182562	Conflicting classifications of pathogenicity	Autosomal recessive inherited pseudoxanthoma elasticum Arterial calcification, generalized, of infancy, 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA278647972	rs_72653784	3 SubmittersRCV000499298 RCV001197941 RCV001857039
NM_001171.6(ABCC6):c.2093A>C (p.Gln698Pro)	SNV Germline	Chr16:16182566	Pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	No Assertion Criteria Provided	CA278647976	rs_72653783	1 SubmittersRCV000499189
NM_001171.6(ABCC6):c.2030T>C (p.Leu677Pro)	SNV Germline	Chr16:16182844	Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	No Assertion Criteria Provided	CA278648260	rs_72653782	1 SubmittersRCV000499026
NM_001171.6(ABCC6):c.1996G>T (p.Gly666Trp)	SNV Germline	Chr16:16182878	Pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	Criteria Provided Single Submitter	CA278648313	rs_72653781	1 SubmittersRCV000499045
NM_001171.6(ABCC6):c.1987G>T (p.Gly663Cys)	SNV Germline	Chr16:16182887	Pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	No Assertion Criteria Provided	CA7926063	rs_72653780	1 SubmittersRCV000499137
NM_001171.6(ABCC6):c.1944-1G>C	SNV Germline	Chr16:16182931	Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	No Assertion Criteria Provided	CA394888847	rs_1438851867	1 SubmittersRCV000499090
NM_001171.6(ABCC6):c.1798C>T (p.Arg600Cys)	SNV Germline	Chr16:16187193	Pathogenic/Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2	Criteria Provided Multiple Submitters No Conflicts	CA7926154	rs_72653777	3 SubmittersRCV000499295 RCV001851389 RCV005018843
NM_001171.6(ABCC6):c.1781C>T (p.Ala594Val)	SNV Germline	Chr16:16187210	Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	No Assertion Criteria Provided	CA278651863	rs_72653776	1 SubmittersRCV000499358
NM_001171.6(ABCC6):c.1703T>C (p.Phe568Ser)	SNV Germline	Chr16:16188907	Conflicting classifications of pathogenicity	Autosomal recessive inherited pseudoxanthoma elasticum Condition: not provided	Criteria Provided Conflicting Classifications	CA7926198	rs_66864704	5 SubmittersRCV000499069 RCV001857037
NM_001171.6(ABCC6):c.1652T>C (p.Phe551Ser)	SNV Germline	Chr16:16188958	Conflicting classifications of pathogenicity	Autosomal recessive inherited pseudoxanthoma elasticum Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA278657033	rs_72653774	3 SubmittersRCV000499160 RCV002475991 RCV003558405
NM_001171.6(ABCC6):c.1635+1G>T	SNV Germline	Chr16:16190163	Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	No Assertion Criteria Provided	CA394889523	rs_1264741133	1 SubmittersRCV000499035
NM_001171.6(ABCC6):c.1540G>A (p.Val514Ile)	SNV Germline	Chr16:16190259	Conflicting classifications of pathogenicity	Autosomal recessive inherited pseudoxanthoma elasticum Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2 ABCC6-related disorder not specified	Criteria Provided Conflicting Classifications	CA7926273	rs_59157279	8 SubmittersRCV000499243 RCV001475971 RCV002496919 RCV004527608 RCV005056083
NM_001171.6(ABCC6):c.1526C>G (p.Ala509Gly)	SNV Germline	Chr16:16190273	Conflicting classifications of pathogenicity	Autosomal recessive inherited pseudoxanthoma elasticum Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2	Criteria Provided Conflicting Classifications	CA7926276	rs_779408186	5 SubmittersRCV000499186 RCV000996233 RCV005018853
NM_001171.6(ABCC6):c.1519G>T (p.Glu507Ter)	SNV Germline	Chr16:16190280	Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	No Assertion Criteria Provided	CA394889746	rs_368017088	1 SubmittersRCV000499114
NM_001171.6(ABCC6):c.1484T>A (p.Leu495His)	SNV Germline	Chr16:16190315	Pathogenic/Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Condition: not provided ABCC6-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA7926287	rs_72653769	3 SubmittersRCV000499258 RCV002524111 RCV004535567
NM_001171.6(ABCC6):c.1460G>A (p.Arg487Gln)	SNV Germline	Chr16:16190339	Pathogenic/Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA7926292	rs_72653768	3 SubmittersRCV000499102 RCV005018841 RCV003558404
NM_001171.6(ABCC6):c.1199C>T (p.Ser400Phe)	SNV Germline	Chr16:16198160	Conflicting classifications of pathogenicity	Autosomal recessive inherited pseudoxanthoma elasticum Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2	Criteria Provided Conflicting Classifications	CA7926408	rs_747386965	3 SubmittersRCV000499233 RCV001857038 RCV002481595
NM_001171.6(ABCC6):c.1194C>G (p.Ser398Arg)	SNV Germline	Chr16:16198165	Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	No Assertion Criteria Provided	CA394890431	rs_376518465	1 SubmittersRCV000499316
NM_001171.6(ABCC6):c.1192A>G (p.Ser398Gly)	SNV Germline	Chr16:16198167	Pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	No Assertion Criteria Provided	CA278664274	rs_72653764	1 SubmittersRCV000499314
NM_001171.6(ABCC6):c.1108A>G (p.Asn370Asp)	SNV Germline	Chr16:16202069	Conflicting classifications of pathogenicity	Autosomal recessive inherited pseudoxanthoma elasticum Arterial calcification, generalized, of infancy, 2 ABCC6-related disorder Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA7926465	rs_72653760	7 SubmittersRCV000499173 RCV001198805 RCV004535566 RCV005018839 RCV004017652
NM_001171.6(ABCC6):c.1091C>G (p.Thr364Arg)	SNV Germline	Chr16:16202086	Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2	Criteria Provided Multiple Submitters No Conflicts	CA7926468	rs_72653759	3 SubmittersRCV000499010 RCV001782996 RCV002496916
NM_001171.6(ABCC6):c.1087C>T (p.Gln363Ter)	SNV Germline	Chr16:16202090	Pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2	Criteria Provided Multiple Submitters No Conflicts	CA278666412	rs_72650698	2 SubmittersRCV000499276 RCV002506210
NM_001171.6(ABCC6):c.1064T>G (p.Leu355Arg)	SNV Germline	Chr16:16202113	Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	No Assertion Criteria Provided	CA7926473	rs_72653758	1 SubmittersRCV000499048
NM_001171.6(ABCC6):c.951C>G (p.Ser317Arg)	SNV Germline	Chr16:16203457	Pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	No Assertion Criteria Provided	CA278667021	rs_78678589	1 SubmittersRCV000499187
NM_001171.6(ABCC6):c.724G>T (p.Glu242Ter)	SNV Germline	Chr16:16208798	Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2	Criteria Provided Single Submitter	CA278668677	rs_72650697	2 SubmittersRCV000499079 RCV005010423
NM_001171.6(ABCC6):c.713C>A (p.Ser238Ter)	SNV Germline	Chr16:16208809	Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	No Assertion Criteria Provided	CA394891464	rs_763591743	1 SubmittersRCV000499301
NM_001171.6(ABCC6):c.681C>G (p.Tyr227Ter)	SNV Germline	Chr16:16208841	Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	No Assertion Criteria Provided	CA394891532	rs_1315925055	1 SubmittersRCV000499342
NM_001171.6(ABCC6):c.676G>A (p.Gly226Arg)	SNV Germline	Chr16:16208846	Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	No Assertion Criteria Provided	CA278668692	rs_72653755	1 SubmittersRCV000499280
NM_001171.6(ABCC6):c.654G>T (p.Trp218Cys)	SNV Germline	Chr16:16212193	Pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	No Assertion Criteria Provided	CA278669355	rs_72653754	1 SubmittersRCV000499170
NM_001171.6(ABCC6):c.601-2A>G	SNV Germline	Chr16:16212248	Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	No Assertion Criteria Provided	CA394891916	rs_1555520991	1 SubmittersRCV000499234
NM_001171.6(ABCC6):c.595C>T (p.Gln199Ter)	SNV Germline	Chr16:16214329	Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	No Assertion Criteria Provided	CA394892016	rs_1474063386	1 SubmittersRCV000499106
NM_001171.6(ABCC6):c.549G>A (p.Leu183=)	SNV Germline	Chr16:16214375	Conflicting classifications of pathogenicity	Autosomal recessive inherited pseudoxanthoma elasticum Condition: not provided	Criteria Provided Conflicting Classifications	CA278670039	rs_72664281	2 SubmittersRCV000499166 RCV001597146
NM_001171.6(ABCC6):c.386G>A (p.Gly129Glu)	SNV Germline	Chr16:16219642	Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	No Assertion Criteria Provided	CA278671489	rs_72653753	1 SubmittersRCV000499249
NM_001171.6(ABCC6):c.373G>T (p.Glu125Ter)	SNV Germline	Chr16:16219655	Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	No Assertion Criteria Provided	CA394893344	rs_879956688	1 SubmittersRCV000499167
NM_001171.6(ABCC6):c.333G>A (p.Trp111Ter)	SNV Germline	Chr16:16219834	Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	No Assertion Criteria Provided	CA278671540	rs_1002088882	1 SubmittersRCV000499345
NM_001171.6(ABCC6):c.220-1G>C	SNV Germline	Chr16:16219948	Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	Criteria Provided Single Submitter	CA278671610	rs_72664203	1 SubmittersRCV000499192
NM_001171.6(ABCC6):c.46C>T (p.Gln16Ter)	SNV Germline	Chr16:16221822	Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	No Assertion Criteria Provided	CA395202720	rs_1555523535	1 SubmittersRCV000499357
NM_001171.6(ABCC6):c.37-1G>A	SNV Germline	Chr16:16221832	Pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA279014409	rs_72657702	4 SubmittersRCV000499257 RCV005010424 RCV005230974
NM_001171.6(ABCC6):c.36+1G>T	SNV Germline	Chr16:16223398	Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	No Assertion Criteria Provided	CA395202875	rs_1555523841	1 SubmittersRCV000499292
NM_001171.6(ABCC6):c.4041G>A (p.Gln1347=)	SNV Germline	Chr16:16154873	Pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA7925345	rs_63751111	2 SubmittersRCV000786044 RCV005092163
NM_001171.6(ABCC6):c.890G>A (p.Arg297His)	SNV Germline	Chr16:16203518	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2	Criteria Provided Conflicting Classifications	CA7926518	rs_199729978	2 SubmittersRCV000929950 RCV005021279
NM_001171.6(ABCC6):c.1060G>A (p.Val354Met)	SNV Germline	Chr16:16202117	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2	Criteria Provided Conflicting Classifications	CA7926474	rs_372132926	2 SubmittersRCV000996234 RCV002479175
NM_001171.6(ABCC6):c.2900G>A (p.Trp967Ter)	SNV Germline	Chr16:16169741	Pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	No Assertion Criteria Provided	CA394884640	rs_2046997344	1 SubmittersRCV001254863
NM_001171.6(ABCC6):c.3892G>A (p.Val1298Ile)	SNV Germline	Chr16:16155022	Conflicting classifications of pathogenicity	Arterial calcification, generalized, of infancy, 2 Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2	Criteria Provided Conflicting Classifications	CA7925377	rs_63751325	3 SubmittersRCV001196250 RCV001863103 RCV005021489
NM_001171.6(ABCC6):c.1255C>T (p.Arg419Trp)	SNV Germline	Chr16:16198104	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum Arterial calcification, generalized, of infancy, 2 Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste	Criteria Provided Multiple Submitters No Conflicts	CA7926391	rs_775853778	3 SubmittersRCV001378597 RCV002510593 RCV005014516
NM_001171.6(ABCC6):c.2901G>C (p.Trp967Cys)	SNV Germline	Chr16:16169740	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA394884634	rs_2152235595	3 SubmittersRCV001531234 RCV002471116 RCV005374771
NM_001171.6(ABCC6):c.4070G>A (p.Arg1357Gln)	SNV Germline	Chr16:16154766	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2	Criteria Provided Conflicting Classifications	CA7925318	rs_201275608	2 SubmittersRCV001872210 RCV002506899
NM_001171.6(ABCC6):c.4218G>C (p.Gln1406His)	SNV Germline	Chr16:16150763	Conflicting classifications of pathogenicity	Condition: not provided Arterial calcification, generalized, of infancy, 2 Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste	Criteria Provided Conflicting Classifications	CA7925252	rs_149510465	2 SubmittersRCV001881357 RCV005016743
NM_001171.6(ABCC6):c.2096A>G (p.Glu699Gly)	SNV Germline	Chr16:16182563	Conflicting classifications of pathogenicity	Condition: not provided Arterial calcification, generalized, of infancy, 2 Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste	Criteria Provided Conflicting Classifications	CA394888540	rs_1252723064	2 SubmittersRCV001982694 RCV002484743
NM_001171.6(ABCC6):c.3458G>A (p.Arg1153His)	SNV Germline	Chr16:16163041	Conflicting classifications of pathogenicity	Condition: not provided Arterial calcification, generalized, of infancy, 2 Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7925578	rs_553479685	3 SubmittersRCV001898674 RCV002482743 RCV003303318
NM_001171.6(ABCC6):c.3524T>C (p.Val1175Ala)	SNV Germline	Chr16:16161547	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Autosomal recessive inherited pseudoxanthoma elasticum Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2	Criteria Provided Conflicting Classifications	CA7925536	rs_376062004	4 SubmittersRCV001960167 RCV002562066 RCV004699135 RCV005016880
NM_001171.6(ABCC6):c.1774G>A (p.Val592Ile)	SNV Germline	Chr16:16188836	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2	Criteria Provided Conflicting Classifications	CA7926181	rs_190761354	3 SubmittersRCV002004793 RCV002497856
NM_001171.6(ABCC6):c.1780-17G>A	SNV Germline	Chr16:16187228	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2	Criteria Provided Conflicting Classifications	CA7926160	rs_547175985	2 SubmittersRCV001975406 RCV005016965
NM_001171.6(ABCC6):c.2140G>A (p.Gly714Arg)	SNV Germline	Chr16:16182519	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7926000	rs_200513114	3 SubmittersRCV001870135 RCV002482474 RCV004039588
NM_001171.6(ABCC6):c.3887G>A (p.Gly1296Asp)	SNV Germline	Chr16:16155027	Pathogenic/Likely pathogenic	Condition: not provided Arterial calcification, generalized, of infancy, 2 Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste ABCC6-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA7925379	rs_374086268	3 SubmittersRCV001951205 RCV002484801 RCV004538686
NM_001171.6(ABCC6):c.3704G>A (p.Arg1235Gln)	SNV Germline	Chr16:16159513	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2 ABCC6-related disorder	Criteria Provided Conflicting Classifications	CA7925479	rs_138700741	3 SubmittersRCV002022916 RCV005017077 RCV004538736
NM_001171.6(ABCC6):c.2661C>T (p.Arg887=)	SNV Germline	Chr16:16175916	Conflicting classifications of pathogenicity	Condition: not provided ABCC6-related disorder Arterial calcification, generalized, of infancy, 2 Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste	Criteria Provided Conflicting Classifications	CA7925839	rs_376958386	3 SubmittersRCV002036258 RCV004738502 RCV005017098
NM_001171.6(ABCC6):c.3320T>C (p.Val1107Ala)	SNV Germline	Chr16:16163179	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7925606	rs_780276741	3 SubmittersRCV001981921 RCV002484635 RCV004955900
NM_001171.6(ABCC6):c.1611G>A (p.Val537=)	SNV Germline	Chr16:16190188	Conflicting classifications of pathogenicity	Condition: not provided Arterial calcification, generalized, of infancy, 2 Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste	Criteria Provided Conflicting Classifications	CA493800502	rs_1486197417	2 SubmittersRCV002157679 RCV005017134
NM_001171.6(ABCC6):c.3725C>T (p.Thr1242Met)	SNV Germline	Chr16:16159492	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2	Criteria Provided Conflicting Classifications	CA7925476	rs_141449320	3 SubmittersRCV002200199 RCV005017114
NM_001171.6(ABCC6):c.3606G>A (p.Val1202=)	SNV Germline	Chr16:16161465	Conflicting classifications of pathogenicity	Condition: not provided ABCC6-related disorder Arterial calcification, generalized, of infancy, 2 Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste	Criteria Provided Conflicting Classifications	CA7925517	rs_766504801	3 SubmittersRCV002120483 RCV004738540 RCV005017143
NM_001171.6(ABCC6):c.1432-5C>T	SNV Germline	Chr16:16190372	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2	Criteria Provided Conflicting Classifications	CA975108747	rs_2152270212	2 SubmittersRCV002082998 RCV005017120
NM_001171.6(ABCC6):c.1058C>T (p.Ala353Val)	SNV Germline	Chr16:16202119	Conflicting classifications of pathogenicity	See cases Inborn genetic diseases Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2	Criteria Provided Conflicting Classifications	CA7926476	rs_369074083	3 SubmittersRCV002253133 RCV003094127 RCV005017165
NM_001171.6(ABCC6):c.1148C>A (p.Ser383Ter)	SNV Germline	Chr16:16202029	Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	Criteria Provided Single Submitter	CA394890528	rs_1277798362	1 SubmittersRCV002283757
NM_001171.6(ABCC6):c.3786C>T (p.Gly1262=)	SNV Germline	Chr16:16157759	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2	Criteria Provided Conflicting Classifications	CA7925418	rs_546064934	2 SubmittersRCV003070286 RCV005021543
NM_001171.6(ABCC6):c.1242C>T (p.Ser414=)	SNV Germline	Chr16:16198117	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2	Criteria Provided Conflicting Classifications	CA7926398	rs_759542954	2 SubmittersRCV003117957 RCV005021798
NM_001171.6(ABCC6):c.3510G>A (p.Trp1170Ter)	SNV Germline	Chr16:16161561	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2	Criteria Provided Multiple Submitters No Conflicts	CA394880203	rs_1249984461	2 SubmittersRCV003121790 RCV005021801
NM_001171.6(ABCC6):c.2928A>C (p.Ala976=)	SNV Germline	Chr16:16169713	Conflicting classifications of pathogenicity	Condition: not provided Arterial calcification, generalized, of infancy, 2 Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste	Criteria Provided Conflicting Classifications	CA493799387	rs_2046996113	2 SubmittersRCV002806558 RCV005008760
NM_001171.6(ABCC6):c.2416-10C>A	SNV Germline	Chr16:16177636	Conflicting classifications of pathogenicity	Condition: not provided Arterial calcification, generalized, of infancy, 2 Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste	Criteria Provided Conflicting Classifications	CA718565873	rs_1371067962	2 SubmittersRCV002877466 RCV005019419
NM_001171.6(ABCC6):c.3306+8G>A	SNV Germline	Chr16:16165615	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2	Criteria Provided Conflicting Classifications	CA7925635	rs_746787698	2 SubmittersRCV002979259 RCV005019528
NM_001171.6(ABCC6):c.392A>G (p.Gln131Arg)	SNV Germline	Chr16:16219636	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2 Autosomal recessive inherited pseudoxanthoma elasticum	Criteria Provided Conflicting Classifications	CA278671485	rs_369280729	3 SubmittersRCV002961283 RCV003420482 RCV005021736
NM_001171.6(ABCC6):c.2035G>T (p.Glu679Ter)	SNV Unknown	Chr16:16182839	Pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	Criteria Provided Single Submitter	CA278648254	rs_1050927346	1 SubmittersRCV003314461
NM_001171.6(ABCC6):c.3934C>T (p.Leu1312=)	SNV Germline	Chr16:16154980	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2	Criteria Provided Conflicting Classifications	CA493797368	rs_1195177013	2 SubmittersRCV003671459 RCV005014831
NM_001171.6(ABCC6):c.3939G>T (p.Leu1313=)	SNV Germline	Chr16:16154975	Conflicting classifications of pathogenicity	Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA278625498	rs_371122759	2 SubmittersRCV005014898 RCV003722815
NM_001171.6(ABCC6):c.3598G>A (p.Gly1200Ser)	SNV Germline	Chr16:16161473	Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	Criteria Provided Single Submitter	CA394879768	rs_2510960594	1 SubmittersRCV003990596
NM_001171.6(ABCC6):c.2279G>C (p.Arg760Pro)	SNV Germline	Chr16:16178934	Pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	Criteria Provided Single Submitter			1 SubmittersRCV004788501
NM_001171.6(ABCC6):c.869G>A (p.Arg290Gln)	SNV Germline	Chr16:16203539	Conflicting classifications of pathogenicity	Inborn genetic diseases Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2 Autosomal recessive inherited pseudoxanthoma elasticum	Criteria Provided Conflicting Classifications			2 SubmittersRCV004959075 RCV005017296
NM_001171.6(ABCC6):c.219+2T>C	SNV Germline	Chr16:16221647	Likely pathogenic	Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2 Autosomal recessive inherited pseudoxanthoma elasticum	Criteria Provided Single Submitter			1 SubmittersRCV005019738
NM_001171.6(ABCC6):c.4404-1G>A	SNV Germline	Chr16:16150242	Likely pathogenic	Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2 Autosomal recessive inherited pseudoxanthoma elasticum	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005019669
NM_001171.6(ABCC6):c.4340G>A (p.Trp1447Ter)	SNV Germline	Chr16:16150641	Likely pathogenic	Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2 Autosomal recessive inherited pseudoxanthoma elasticum	Criteria Provided Single Submitter			1 SubmittersRCV005019671
NM_001171.6(ABCC6):c.3822C>A (p.Tyr1274Ter)	SNV Germline	Chr16:16157723	Likely pathogenic	Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2 Autosomal recessive inherited pseudoxanthoma elasticum	Criteria Provided Single Submitter			1 SubmittersRCV005019682
NM_001171.6(ABCC6):c.2666+1G>A	SNV Germline	Chr16:16175910	Likely pathogenic	Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2 Autosomal recessive inherited pseudoxanthoma elasticum	Criteria Provided Single Submitter			1 SubmittersRCV005019698
NM_001171.6(ABCC6):c.2590G>T (p.Glu864Ter)	SNV Germline	Chr16:16177452	Likely pathogenic	Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2 Autosomal recessive inherited pseudoxanthoma elasticum	Criteria Provided Single Submitter			1 SubmittersRCV005019699
NM_001171.6(ABCC6):c.1884C>A (p.Cys628Ter)	SNV Germline	Chr16:16185018	Likely pathogenic	Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2 Autosomal recessive inherited pseudoxanthoma elasticum	Criteria Provided Single Submitter			1 SubmittersRCV005019703
NM_001171.6(ABCC6):c.3542G>A (p.Gly1181Asp)	SNV Germline	Chr16:16161529	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive inherited pseudoxanthoma elasticum	Criteria Provided Conflicting Classifications			2 SubmittersRCV005205673 RCV005249836
NM_001171.6(ABCC6):c.1741C>T (p.Gln581Ter)	SNV Germline	Chr16:16188869	Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	Criteria Provided Single Submitter			1 SubmittersRCV005365822

NM_001171.6(ABCC6):c.3421C>T (p.Arg1141Ter)

SNV
Germline

Chr16:16163078

Pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Arterial calcification, generalized, of infancy, 2
Condition: not provided
Cutis laxa
Papule
Pseudoxanthoma elasticum, forme fruste
Autosomal recessive inherited pseudoxanthoma elasticum
Arterial calcification, generalized, of infancy, 2
ABCC6-related disorder
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA129115

rs_72653706

29 SubmittersRCV000006937 RCV000023272 RCV000254838 RCV000415101 RCV000762959 RCV002291267 RCV002251886

NM_001171.6(ABCC6):c.2787+1G>T

SNV
Germline

Chr16:16173283

Pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Arterial calcification, generalized, of infancy, 2
Condition: not provided
Pseudoxanthoma elasticum, forme fruste
Autosomal recessive inherited pseudoxanthoma elasticum
Arterial calcification, generalized, of infancy, 2
ABCC6-related disorder
Pseudoxanthoma elasticum

Criteria Provided
Multiple Submitters
No Conflicts

CA150651

rs_72664209

14 SubmittersRCV000006938 RCV000087145 RCV000254806 RCV000763363 RCV004532303 RCV005055506

NM_001171.6(ABCC6):c.3413G>A (p.Arg1138Gln)

SNV
Germline

Chr16:16163086

Pathogenic/Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA281565

rs_60791294

8 SubmittersRCV000006939 RCV000731285 RCV002496287

NM_001171.6(ABCC6):c.3341G>C (p.Arg1114Pro)

SNV
Germline

Chr16:16163158

Pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Condition: not provided
ABCC6-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA281567

rs_63750427

4 SubmittersRCV000006940 RCV002512858 RCV004532304

NM_001171.6(ABCC6):c.3940C>T (p.Arg1314Trp)

SNV
Germline

Chr16:16154974

Pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Arterial calcification, generalized, of infancy, 2
Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA129117

rs_63750759

6 SubmittersRCV000006942 RCV000023273 RCV000254915 RCV001535919

NM_001171.6(ABCC6):c.3389C>T (p.Thr1130Met)

SNV
Germline

Chr16:16163110

Pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Abnormality of the eye
Arterial calcification, generalized, of infancy, 2
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Condition: not provided
Arterial calcification, generalized, of infancy, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA281571

rs_63750459

6 SubmittersRCV000006947 RCV000505108 RCV002504757 RCV002512859 RCV005603585

NM_001171.6(ABCC6):c.3412C>T (p.Arg1138Trp)

SNV
Germline

Chr16:16163087

Pathogenic/Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2
Condition: not provided
ABCC6-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA281573

rs_28939701

8 SubmittersRCV000006949 RCV000762960 RCV000255802 RCV004532305

NM_001171.6(ABCC6):c.3490C>T (p.Arg1164Ter)

SNV
Germline

Chr16:16163009

Pathogenic/Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Condition: not provided
See cases
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2
ABCC6-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA281575

rs_72653744

10 SubmittersRCV000006950 RCV000255402 RCV002251887 RCV001536083 RCV004737138

NM_001171.6(ABCC6):c.3736-1G>A

SNV
Germline

Chr16:16157810

Pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Arterial calcification, generalized, of infancy, 2
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA129119

rs_63750273

7 SubmittersRCV000006952 RCV000023274 RCV005016251 RCV002512860

NM_001171.6(ABCC6):c.4015C>T (p.Arg1339Cys)

SNV
Germline

Chr16:16154899

Pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA281577

rs_28939702

6 SubmittersRCV000006954 RCV001781196

NM_001171.6(ABCC6):c.3892G>T (p.Val1298Phe)

SNV
Germline

Chr16:16155022

Pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

Criteria Provided
Single Submitter

CA281581

rs_63751325

2 SubmittersRCV000006956

NM_001171.6(ABCC6):c.3904G>A (p.Gly1302Arg)

SNV
Germline

Chr16:16155010

Pathogenic/Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2
ABCC6-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA281583

rs_63749856

9 SubmittersRCV000006957 RCV000255838 RCV000762958 RCV004737139

NM_001171.6(ABCC6):c.3961G>A (p.Gly1321Ser)

SNV
Germline

Chr16:16154953

Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

Criteria Provided
Single Submitter

CA281585

rs_63749823

2 SubmittersRCV000006958

NM_001171.6(ABCC6):c.3712G>C (p.Asp1238His)

SNV
Germline

Chr16:16159505

Pathogenic/Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

No Assertion Criteria Provided

CA281587

rs_63749796

2 SubmittersRCV000006959

NM_001171.6(ABCC6):c.2294G>A (p.Arg765Gln)

SNV
Germline

Chr16:16178919

Pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Arterial calcification, generalized, of infancy, 2
Condition: not provided
Arterial calcification, generalized, of infancy, 2
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste

Criteria Provided
Multiple Submitters
No Conflicts

CA129120

rs_67561842

7 SubmittersRCV000023275 RCV000023276 RCV001090336 RCV005007891

NM_001171.6(ABCC6):c.4216C>A (p.Gln1406Lys)

SNV
Germline

Chr16:16150765

Pathogenic

Arterial calcification, generalized, of infancy, 2
Autosomal recessive inherited pseudoxanthoma elasticum

No Assertion Criteria Provided

CA129122

rs_387906859

2 SubmittersRCV000023278 RCV000023277

NM_001171.6(ABCC6):c.1552C>T (p.Arg518Ter)

SNV
Germline

Chr16:16190247

Pathogenic

Arterial calcification, generalized, of infancy, 2
Autosomal recessive inherited pseudoxanthoma elasticum
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Condition: not provided
Arterial calcification, generalized, of infancy, 2
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
ABCC6-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA129124

rs_72650700

11 SubmittersRCV000023279 RCV000023280 RCV000191057 RCV000429924 RCV002477007 RCV004528132

NM_001171.6(ABCC6):c.4069C>T (p.Arg1357Trp)

SNV
Germline

Chr16:16154767

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2

Criteria Provided
Conflicting Classifications

CA232835

rs_63750428

6 SubmittersRCV000132641 RCV000499136 RCV005359305

NM_001171.6(ABCC6):c.4016G>A (p.Arg1339His)

SNV
Germline

Chr16:16154898

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA7925347

rs_63750622

4 SubmittersRCV000255253 RCV000499080 RCV002500955

NM_001171.6(ABCC6):c.3398G>C (p.Gly1133Ala)

SNV
Germline

Chr16:16163101

Likely pathogenic

Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum

Criteria Provided
Multiple Submitters
No Conflicts

CA10588595

rs_63750473

2 SubmittersRCV000255412 RCV000499057

NM_001171.6(ABCC6):c.1553G>A (p.Arg518Gln)

SNV
Germline

Chr16:16190246

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2
ABCC6-related disorder
Arterial calcification, generalized, of infancy, 2
Autosomal recessive inherited pseudoxanthoma elasticum

Criteria Provided
Multiple Submitters
No Conflicts

CA7926272

rs_72653772

7 SubmittersRCV000255202 RCV000763364 RCV004535233 RCV005603616 RCV000499158

NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly)

SNV
Germline

Chr16:16202006

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum
not specified
Arterial calcification, generalized, of infancy, 2
ABCC6-related disorder
Retinal dystrophy
Pseudoxanthoma elasticum, forme fruste
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2

Criteria Provided
Conflicting Classifications

CA7926447

rs_72653762

14 SubmittersRCV000256117 RCV000499064 RCV000455861 RCV002288946 RCV004535232 RCV004816464 RCV004576935 RCV005016653

NM_001171.6(ABCC6):c.742C>T (p.Leu248Phe)

SNV
Germline

Chr16:16208780

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum
ABCC6-related disorder
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2

Criteria Provided
Conflicting Classifications

CA7926582

rs_72653756

9 SubmittersRCV000300804 RCV000499195 RCV002291274 RCV005016665

NM_001171.6(ABCC6):c.1424A>T (p.His475Leu)

SNV
Germline

Chr16:16192837

Conflicting classifications of pathogenicity

Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2
Retinal dystrophy
Autosomal recessive inherited pseudoxanthoma elasticum
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7926314

rs_151187637

6 SubmittersRCV000765256 RCV004816517 RCV000502001 RCV000513133

NM_001171.6(ABCC6):c.3491G>A (p.Arg1164Gln)

SNV
Germline

Chr16:16163008

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum
Arterial calcification, generalized, of infancy, 2
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
ABCC6-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA7925569

rs_63750457

6 SubmittersRCV000413984 RCV000499335 RCV002481269 RCV004530508

NM_001171.6(ABCC6):c.496C>T (p.Arg166Cys)

SNV
Germline

Chr16:16214428

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum
ABCC6-related disorder
Arterial calcification, generalized, of infancy, 2
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste

Criteria Provided
Conflicting Classifications

CA7926628

rs_201766106

5 SubmittersRCV000413335 RCV000499286 RCV004737461 RCV005010310

NM_001171.6(ABCC6):c.1132C>T (p.Gln378Ter)

SNV
Germline

Chr16:16202045

Pathogenic

Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum
Arterial calcification, generalized, of infancy, 2
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
ABCC6-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA7926457

rs_72650699

6 SubmittersRCV000413373 RCV000499037 RCV002481268 RCV004530507

NM_001171.6(ABCC6):c.754C>T (p.Leu252Phe)

SNV
Germline

Chr16:16208768

Conflicting classifications of pathogenicity

not specified
Autosomal recessive inherited pseudoxanthoma elasticum
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2

Criteria Provided
Conflicting Classifications

CA7926577

rs_72653757

3 SubmittersRCV000419346 RCV000499344 RCV005010324

NM_001171.6(ABCC6):c.841A>G (p.Lys281Glu)

SNV
Germline

Chr16:16203567

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum

Criteria Provided
Conflicting Classifications

CA7926531

rs_879274205

2 SubmittersRCV000425196 RCV000499224

NM_001171.6(ABCC6):c.2848G>A (p.Ala950Thr)

SNV
Germline

Chr16:16169793

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2
ABCC6-related disorder

Criteria Provided
Conflicting Classifications

CA7925767

rs_72657689

7 SubmittersRCV000437137 RCV000499095 RCV002253430 RCV002253431 RCV004533000

NM_001171.6(ABCC6):c.3415G>A (p.Ala1139Thr)

SNV
Germline

Chr16:16163084

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2

Criteria Provided
Conflicting Classifications

CA7925588

rs_63750146

5 SubmittersRCV000426908 RCV000499199 RCV005018725

NM_001171.6(ABCC6):c.2420G>A (p.Arg807Gln)

SNV
Germline

Chr16:16177622

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum
ABCC6-related disorder
Arterial calcification, generalized, of infancy, 2
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA7925918

rs_72653794

8 SubmittersRCV000418691 RCV000499152 RCV004529573 RCV005230336 RCV005018726

NM_001171.6(ABCC6):c.2018T>C (p.Leu673Pro)

SNV
Germline

Chr16:16182856

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum

Criteria Provided
Multiple Submitters
No Conflicts

CA7926056

rs_67470842

3 SubmittersRCV000444456 RCV000499274

NM_001171.6(ABCC6):c.3941G>A (p.Arg1314Gln)

SNV
Germline

Chr16:16154973

Conflicting classifications of pathogenicity

not specified
Autosomal recessive inherited pseudoxanthoma elasticum
Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2

Criteria Provided
Conflicting Classifications

CA16609774

rs_63751086

4 SubmittersRCV000454613 RCV000499038 RCV001383425 RCV005018743

NM_001171.6(ABCC6):c.4081G>A (p.Asp1361Asn)

SNV
Germline

Chr16:16154755

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum

Criteria Provided
Conflicting Classifications

CA7925316

rs_58695352

3 SubmittersRCV000483462 RCV000499266

NM_001171.6(ABCC6):c.2359G>A (p.Val787Ile)

SNV
Germline

Chr16:16178854

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum
Arterial calcification, generalized, of infancy, 2
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste

Criteria Provided
Conflicting Classifications

CA7925951

rs_72653792

6 SubmittersRCV000483030 RCV000991178 RCV005018799

NM_001171.6(ABCC6):c.2428G>A (p.Val810Met)

SNV
Germline

Chr16:16177614

Conflicting classifications of pathogenicity

Condition: not provided
Arterial calcification, generalized, of infancy, 2
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Autosomal recessive inherited pseudoxanthoma elasticum

Criteria Provided
Conflicting Classifications

CA7925916

rs_72653795

4 SubmittersRCV000489525 RCV002481553 RCV000499307

NM_001171.6(ABCC6):c.1868-5T>G

SNV
Germline

Chr16:16185039

Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Condition: not provided
Arterial calcification, generalized, of infancy, 2
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste

Criteria Provided
Multiple Submitters
No Conflicts

CA7926120

rs_72664207

4 SubmittersRCV000499193 RCV000488965 RCV005018823

NM_001171.6(ABCC6):c.2591-1G>T

SNV
Germline

Chr16:16175987

Likely pathogenic

Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA394887107

rs_1131691865

3 SubmittersRCV000493957 RCV005018830

NM_001171.6(ABCC6):c.1256G>A (p.Arg419Gln)

SNV
Germline

Chr16:16198103

Pathogenic/Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA7926390

rs_772434460

7 SubmittersRCV000499218 RCV000492873 RCV002496898

NM_001171.6(ABCC6):c.4501G>A (p.Gly1501Ser)

SNV
Germline

Chr16:16150144

Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

Criteria Provided
Single Submitter

CA278674989

rs_63750874

1 SubmittersRCV000499131

NM_001171.6(ABCC6):c.4420A>T (p.Lys1474Ter)

SNV
Germline

Chr16:16150225

Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

No Assertion Criteria Provided

CA278675040

rs_72653751

1 SubmittersRCV000499356

NM_001171.6(ABCC6):c.4403+1G>T

SNV
Germline

Chr16:16150577

Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

No Assertion Criteria Provided

CA394883664

rs_1006994885

1 SubmittersRCV000499281

NM_001171.6(ABCC6):c.4341G>A (p.Trp1447Ter)

SNV
Germline

Chr16:16150640

Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

No Assertion Criteria Provided

CA394883793

rs_1333662666

1 SubmittersRCV000499263

NM_001171.6(ABCC6):c.4213G>A (p.Gly1405Ser)

SNV
Germline

Chr16:16150768

Pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

No Assertion Criteria Provided

CA278675411

rs_947230593

1 SubmittersRCV000499309

NM_001171.6(ABCC6):c.4209C>A (p.Ser1403Arg)

SNV
Germline

Chr16:16150772

Pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

No Assertion Criteria Provided

CA7925255

rs_63750700

1 SubmittersRCV000499150

NM_001171.6(ABCC6):c.4209-2A>C

SNV
Germline

Chr16:16150774

Pathogenic/Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA394884115

rs_1555506740

4 SubmittersRCV000499019 RCV003558411

NM_001171.6(ABCC6):c.4198G>A (p.Glu1400Lys)

SNV
Germline

Chr16:16154638

Pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7925287

rs_63751241

3 SubmittersRCV000499034 RCV005356007 RCV001857051

NM_001171.6(ABCC6):c.4192C>T (p.Arg1398Ter)

SNV
Germline

Chr16:16154644

Pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7925290

rs_66913554

3 SubmittersRCV000499242 RCV002524116

NM_001171.6(ABCC6):c.4060G>C (p.Gly1354Arg)

SNV
Germline

Chr16:16154776

Pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

No Assertion Criteria Provided

CA278676822

rs_63750018

1 SubmittersRCV000499341

NM_001171.6(ABCC6):c.4041G>C (p.Gln1347His)

SNV
Germline

Chr16:16154873

Pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

Criteria Provided
Single Submitter

CA278676858

rs_63751111

1 SubmittersRCV000499117

NM_001171.6(ABCC6):c.4025T>C (p.Ile1342Thr)

SNV
Germline

Chr16:16154889

Conflicting classifications of pathogenicity

Autosomal recessive inherited pseudoxanthoma elasticum
Condition: not provided

Criteria Provided
Conflicting Classifications

CA278625336

rs_63750608

2 SubmittersRCV000499194 RCV002527164

NM_001171.6(ABCC6):c.4004T>C (p.Leu1335Pro)

SNV
Germline

Chr16:16154910

Pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

No Assertion Criteria Provided

CA278625382

rs_63750414

1 SubmittersRCV000499319

NM_001171.6(ABCC6):c.4004T>A (p.Leu1335Gln)

SNV
Germline

Chr16:16154910

Pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

No Assertion Criteria Provided

CA278625390

rs_63750414

1 SubmittersRCV000499074

NM_001171.6(ABCC6):c.3971G>A (p.Trp1324Ter)

SNV
Germline

Chr16:16154943

Pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA278625482

rs_72653750

3 SubmittersRCV000499290 RCV002298628 RCV001857049

NM_001171.6(ABCC6):c.3953C>G (p.Ala1318Gly)

SNV
Germline

Chr16:16154961

Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

No Assertion Criteria Provided

CA7925367

rs_780887287

1 SubmittersRCV000499159

NM_001171.6(ABCC6):c.3919T>C (p.Ser1307Pro)

SNV
Germline

Chr16:16154995

Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

No Assertion Criteria Provided

CA278625550

rs_63751318

1 SubmittersRCV000499015

NM_001171.6(ABCC6):c.3907G>C (p.Ala1303Pro)

SNV
Germline

Chr16:16155007

Pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Condition: not provided

Criteria Provided
Single Submitter

CA7925374

rs_63750410

2 SubmittersRCV000499103 RCV001857048

NM_001171.6(ABCC6):c.3902C>T (p.Thr1301Ile)

SNV
Germline

Chr16:16155012

Pathogenic/Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA278625576

rs_63750494

2 SubmittersRCV000499236 RCV001857047

NM_001171.6(ABCC6):c.3895G>A (p.Gly1299Ser)

SNV
Germline

Chr16:16155019

Pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

No Assertion Criteria Provided

CA278625591

rs_63750446

1 SubmittersRCV000499145

NM_001171.6(ABCC6):c.3883-6G>A

SNV
Germline

Chr16:16155037

Pathogenic/Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA7925382

rs_72664214

7 SubmittersRCV000499155 RCV001383426 RCV002490820 RCV004817717

NM_001171.6(ABCC6):c.3823C>T (p.Arg1275Ter)

SNV
Germline

Chr16:16157722

Pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA7925412

rs_72653749

4 SubmittersRCV000499179 RCV001731722 RCV002481598

NM_001171.6(ABCC6):c.3790C>T (p.Gln1264Ter)

SNV
Germline

Chr16:16157755

Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

No Assertion Criteria Provided

CA394877887

rs_1311228469

1 SubmittersRCV000499210

NM_001171.6(ABCC6):c.3787G>A (p.Gly1263Arg)

SNV
Germline

Chr16:16157758

Conflicting classifications of pathogenicity

Autosomal recessive inherited pseudoxanthoma elasticum
Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2

Criteria Provided
Conflicting Classifications

CA7925417

rs_760376992

3 SubmittersRCV000499182 RCV001857056 RCV002506215

NM_001171.6(ABCC6):c.3777G>A (p.Trp1259Ter)

SNV
Germline

Chr16:16157768

Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

No Assertion Criteria Provided

CA394877959

rs_1555507925

1 SubmittersRCV000499027

NM_001171.6(ABCC6):c.3735G>T (p.Glu1245Asp)

SNV
Germline

Chr16:16159482

Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Condition: not provided

Criteria Provided
Single Submitter

CA7925475

rs_281865557

2 SubmittersRCV000499284 RCV004696922

NM_001171.6(ABCC6):c.3722G>A (p.Trp1241Ter)

SNV
Germline

Chr16:16159495

Pathogenic/Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA278628730

rs_72653748

2 SubmittersRCV000499086 RCV002527163

NM_001171.6(ABCC6):c.3717T>G (p.Tyr1239Ter)

SNV
Germline

Chr16:16159500

Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

No Assertion Criteria Provided

CA278628734

rs_72653747

1 SubmittersRCV000499172

NM_001171.6(ABCC6):c.3709C>T (p.Gln1237Ter)

SNV
Germline

Chr16:16159508

Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

No Assertion Criteria Provided

CA278628748

rs_72653746

1 SubmittersRCV000499148

NM_001171.6(ABCC6):c.3703C>T (p.Arg1235Trp)

SNV
Germline

Chr16:16159514

Pathogenic/Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7925480

rs_63750402

3 SubmittersRCV000499053 RCV002481600 RCV002524114

NM_001171.6(ABCC6):c.3668G>A (p.Trp1223Ter)

SNV
Germline

Chr16:16159549

Pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Condition: not provided

Criteria Provided
Single Submitter

CA278628812

rs_72653745

2 SubmittersRCV000499144 RCV003558409

NM_001171.6(ABCC6):c.3662G>A (p.Arg1221His)

SNV
Germline

Chr16:16159555

Pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA7925487

rs_63751001

5 SubmittersRCV000499367 RCV001310321 RCV002496927

NM_001171.6(ABCC6):c.3661C>T (p.Arg1221Cys)

SNV
Germline

Chr16:16159556

Pathogenic/Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2
ABCC6-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA7925488

rs_63751215

5 SubmittersRCV000499272 RCV001558931 RCV002475993 RCV004535569

NM_001171.6(ABCC6):c.3634-3C>A

SNV
Germline

Chr16:16159586

Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA7925496

rs_72664212

3 SubmittersRCV000499039 RCV002524117 RCV005018846

NM_001171.6(ABCC6):c.3633+1G>A

SNV
Germline

Chr16:16161437

Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

No Assertion Criteria Provided

CA394879495

rs_1555508604

1 SubmittersRCV000499312

NM_001171.6(ABCC6):c.3507-1G>A

SNV
Germline

Chr16:16161565

Pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2
Condition: not provided
ABCC6-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA7925541

rs_72664210

6 SubmittersRCV000499077 RCV001536007 RCV001782998 RCV004737570

NM_001171.6(ABCC6):c.3427C>T (p.Gln1143Ter)

SNV
Germline

Chr16:16163072

Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

Criteria Provided
Single Submitter

CA278631466

rs_72653743

1 SubmittersRCV000499065

NM_001171.6(ABCC6):c.3413G>C (p.Arg1138Pro)

SNV
Germline

Chr16:16163086

Pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

Criteria Provided
Single Submitter

CA278631498

rs_60791294

1 SubmittersRCV000499087

NM_001171.6(ABCC6):c.3397G>T (p.Gly1133Cys)

SNV
Germline

Chr16:16163102

Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

No Assertion Criteria Provided

CA278631529

rs_63749807

1 SubmittersRCV000499302

NM_001171.6(ABCC6):c.3381G>A (p.Met1127Ile)

SNV
Germline

Chr16:16163118

Conflicting classifications of pathogenicity

Autosomal recessive inherited pseudoxanthoma elasticum
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7925593

rs_63750758

3 SubmittersRCV000499050 RCV002496926 RCV002524113

NM_001171.6(ABCC6):c.3362C>T (p.Ser1121Leu)

SNV
Germline

Chr16:16163137

Pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Condition: not provided

Criteria Provided
Single Submitter

CA7925599

rs_63750987

2 SubmittersRCV000499025 RCV003558408

NM_001171.6(ABCC6):c.3362C>G (p.Ser1121Trp)

SNV
Germline

Chr16:16163137

Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

Criteria Provided
Single Submitter

CA278631651

rs_63750987

1 SubmittersRCV000499270

NM_001171.6(ABCC6):c.3341G>A (p.Arg1114His)

SNV
Germline

Chr16:16163158

Pathogenic/Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2
Arterial calcification, generalized, of infancy, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA7925603

rs_63750427

4 SubmittersRCV000499040 RCV001865582 RCV002496925 RCV005230973

NM_001171.6(ABCC6):c.3340C>T (p.Arg1114Cys)

SNV
Germline

Chr16:16163159

Pathogenic/Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA7925604

rs_63749794

8 SubmittersRCV000499109 RCV001857045 RCV002489227

NM_001171.6(ABCC6):c.3207C>A (p.Tyr1069Ter)

SNV
Germline

Chr16:16165722

Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

No Assertion Criteria Provided

CA278632971

rs_60975032

1 SubmittersRCV000499346

NM_001171.6(ABCC6):c.3188T>G (p.Leu1063Arg)

SNV
Germline

Chr16:16165741

Pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Condition: not provided

Criteria Provided
Single Submitter

CA278633021

rs_72657695

2 SubmittersRCV000499128 RCV001851392

NM_001171.6(ABCC6):c.3168C>A (p.Asp1056Glu)

SNV
Germline

Chr16:16165761

Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

No Assertion Criteria Provided

CA278633089

rs_72657694

1 SubmittersRCV000499329

NM_001171.6(ABCC6):c.3088C>T (p.Arg1030Ter)

SNV
Germline

Chr16:16165841

Pathogenic/Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA278633213

rs_72653705

5 SubmittersRCV000499322 RCV001591134

NM_001171.6(ABCC6):c.3074T>C (p.Leu1025Pro)

SNV
Germline

Chr16:16165855

Conflicting classifications of pathogenicity

Autosomal recessive inherited pseudoxanthoma elasticum
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2

Criteria Provided
Conflicting Classifications

CA394883273

rs_1555509499

2 SubmittersRCV000499355 RCV005018847

NM_001171.6(ABCC6):c.2974G>C (p.Gly992Arg)

SNV
Germline

Chr16:16169667

Pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Condition: not provided

Criteria Provided
Single Submitter

CA7925729

rs_72657692

2 SubmittersRCV000499211 RCV003558407

NM_001171.6(ABCC6):c.2974G>A (p.Gly992Arg)

SNV
Germline

Chr16:16169667

Pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Condition: not provided

Criteria Provided
Single Submitter

CA7925730

rs_72657692

2 SubmittersRCV000499248 RCV001865586

NM_001171.6(ABCC6):c.2858T>A (p.Leu953His)

SNV
Germline

Chr16:16169783

Conflicting classifications of pathogenicity

Autosomal recessive inherited pseudoxanthoma elasticum
Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2

Criteria Provided
Conflicting Classifications

CA7925764

rs_72657700

4 SubmittersRCV000499181 RCV001857044 RCV005010422

NM_001171.6(ABCC6):c.2814C>G (p.Tyr938Ter)

SNV
Germline

Chr16:16169827

Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

Criteria Provided
Single Submitter

CA7925777

rs_72653704

1 SubmittersRCV000499126

NM_001171.6(ABCC6):c.2678C>G (p.Ser893Ter)

SNV
Germline

Chr16:16173393

Pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Condition: not provided

Criteria Provided
Single Submitter

CA394886274

rs_1481200467

2 SubmittersRCV000499139 RCV002524122

NM_001171.6(ABCC6):c.2524C>T (p.Gln842Ter)

SNV
Germline

Chr16:16177518

Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

No Assertion Criteria Provided

CA278644238

rs_72653703

1 SubmittersRCV000499293

NM_001171.6(ABCC6):c.2477T>C (p.Leu826Pro)

SNV
Germline

Chr16:16177565

Conflicting classifications of pathogenicity

Autosomal recessive inherited pseudoxanthoma elasticum
Condition: not provided
Retinal dystrophy
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2

Criteria Provided
Conflicting Classifications

CA7925906

rs_72653798

4 SubmittersRCV000499287 RCV001857043 RCV004817716 RCV005018845

NM_001171.6(ABCC6):c.2458G>C (p.Ala820Pro)

SNV
Germline

Chr16:16177584

Pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

No Assertion Criteria Provided

CA7925909

rs_72653797

1 SubmittersRCV000499178

NM_001171.6(ABCC6):c.2432C>T (p.Thr811Met)

SNV
Germline

Chr16:16177610

Pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Condition: not provided
Arterial calcification, generalized, of infancy, 2
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste

Criteria Provided
Multiple Submitters
No Conflicts

CA7925914

rs_72653796

4 SubmittersRCV000499238 RCV001857042 RCV005010420

NM_001171.6(ABCC6):c.2432C>G (p.Thr811Arg)

SNV
Germline

Chr16:16177610

Pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

No Assertion Criteria Provided

CA7925915

rs_72653796

1 SubmittersRCV000499278

NM_001171.6(ABCC6):c.2419C>T (p.Arg807Trp)

SNV
Germline

Chr16:16177623

Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7925919

rs_72653793

4 SubmittersRCV000499031 RCV005010421 RCV001851390

NM_001171.6(ABCC6):c.2359G>T (p.Val787Phe)

SNV
Germline

Chr16:16178854

Pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

Criteria Provided
Single Submitter

CA278645265

rs_72653792

1 SubmittersRCV000499188

NM_001171.6(ABCC6):c.2304C>A (p.Tyr768Ter)

SNV
Germline

Chr16:16178909

Pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Condition: not provided

Criteria Provided
Single Submitter

CA278645357

rs_66492417

2 SubmittersRCV000499365 RCV003558406

NM_001171.6(ABCC6):c.2297C>A (p.Ala766Asp)

SNV
Germline

Chr16:16178916

Pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

No Assertion Criteria Provided

CA278645376

rs_72653789

1 SubmittersRCV000499251

NM_001171.6(ABCC6):c.2293C>T (p.Arg765Trp)

SNV
Germline

Chr16:16178920

Pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Condition: not provided

Criteria Provided
Single Submitter

CA7925962

rs_776513864

2 SubmittersRCV000499165 RCV001857055

NM_001171.6(ABCC6):c.2279G>A (p.Arg760Gln)

SNV
Germline

Chr16:16178934

Pathogenic/Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA7925964

rs_769405586

3 SubmittersRCV000499052 RCV001857054 RCV005018848

NM_001171.6(ABCC6):c.2278C>T (p.Arg760Trp)

SNV
Germline

Chr16:16178935

Pathogenic/Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA7925965

rs_72653788

6 SubmittersRCV000499338 RCV001782997 RCV002475992

NM_001171.6(ABCC6):c.2263G>A (p.Gly755Arg)

SNV
Germline

Chr16:16178950

Pathogenic/Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Retinal dystrophy
Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA7925966

rs_72653787

6 SubmittersRCV000499201 RCV004817715 RCV001857041 RCV005010418

NM_001171.6(ABCC6):c.2252T>A (p.Met751Lys)

SNV
Germline

Chr16:16178961

Pathogenic/Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2
Optic atrophy
ABCC6-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA278645448

rs_72653786

5 SubmittersRCV000499091 RCV001857040 RCV005018844 RCV004817714 RCV004737568

NM_001171.6(ABCC6):c.2245C>T (p.Gln749Ter)

SNV
Germline

Chr16:16182414

Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

No Assertion Criteria Provided

CA278647831

rs_66616070

1 SubmittersRCV000499343

NM_001171.6(ABCC6):c.2177T>C (p.Leu726Pro)

SNV
Germline

Chr16:16182482

Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

Criteria Provided
Single Submitter

CA278647884

rs_72653785

1 SubmittersRCV000499059

NM_001171.6(ABCC6):c.2162G>A (p.Trp721Ter)

SNV
Germline

Chr16:16182497

Pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA278647900

rs_72650701

3 SubmittersRCV000499081 RCV001865580 RCV002481597

NM_001171.6(ABCC6):c.2153A>G (p.Asp718Gly)

SNV
Germline

Chr16:16182506

Pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

No Assertion Criteria Provided

CA394888419

rs_1357894483

1 SubmittersRCV000499020

NM_001171.6(ABCC6):c.2125G>T (p.Glu709Ter)

SNV
Germline

Chr16:16182534

Pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Condition: not provided

Criteria Provided
Single Submitter

CA394888480

rs_114303883

2 SubmittersRCV000499175 RCV003558412

NM_001171.6(ABCC6):c.2097G>T (p.Glu699Asp)

SNV
Germline

Chr16:16182562

Conflicting classifications of pathogenicity

Autosomal recessive inherited pseudoxanthoma elasticum
Arterial calcification, generalized, of infancy, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA278647972

rs_72653784

3 SubmittersRCV000499298 RCV001197941 RCV001857039

NM_001171.6(ABCC6):c.2093A>C (p.Gln698Pro)

SNV
Germline

Chr16:16182566

Pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

No Assertion Criteria Provided

CA278647976

rs_72653783

1 SubmittersRCV000499189

NM_001171.6(ABCC6):c.2030T>C (p.Leu677Pro)

SNV
Germline

Chr16:16182844

Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

No Assertion Criteria Provided

CA278648260

rs_72653782

1 SubmittersRCV000499026

NM_001171.6(ABCC6):c.1996G>T (p.Gly666Trp)

SNV
Germline

Chr16:16182878

Pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

Criteria Provided
Single Submitter

CA278648313

rs_72653781

1 SubmittersRCV000499045

NM_001171.6(ABCC6):c.1987G>T (p.Gly663Cys)

SNV
Germline

Chr16:16182887

Pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

No Assertion Criteria Provided

CA7926063

rs_72653780

1 SubmittersRCV000499137

NM_001171.6(ABCC6):c.1944-1G>C

SNV
Germline

Chr16:16182931

Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

No Assertion Criteria Provided

CA394888847

rs_1438851867

1 SubmittersRCV000499090

NM_001171.6(ABCC6):c.1798C>T (p.Arg600Cys)

SNV
Germline

Chr16:16187193

Pathogenic/Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA7926154

rs_72653777

3 SubmittersRCV000499295 RCV001851389 RCV005018843

NM_001171.6(ABCC6):c.1781C>T (p.Ala594Val)

SNV
Germline

Chr16:16187210

Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

No Assertion Criteria Provided

CA278651863

rs_72653776

1 SubmittersRCV000499358

NM_001171.6(ABCC6):c.1703T>C (p.Phe568Ser)

SNV
Germline

Chr16:16188907

Conflicting classifications of pathogenicity

Autosomal recessive inherited pseudoxanthoma elasticum
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7926198

rs_66864704

5 SubmittersRCV000499069 RCV001857037

NM_001171.6(ABCC6):c.1652T>C (p.Phe551Ser)

SNV
Germline

Chr16:16188958

Conflicting classifications of pathogenicity

Autosomal recessive inherited pseudoxanthoma elasticum
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA278657033

rs_72653774

3 SubmittersRCV000499160 RCV002475991 RCV003558405

NM_001171.6(ABCC6):c.1635+1G>T

SNV
Germline

Chr16:16190163

Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

No Assertion Criteria Provided

CA394889523

rs_1264741133

1 SubmittersRCV000499035

NM_001171.6(ABCC6):c.1540G>A (p.Val514Ile)

SNV
Germline

Chr16:16190259

Conflicting classifications of pathogenicity

Autosomal recessive inherited pseudoxanthoma elasticum
Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2
ABCC6-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA7926273

rs_59157279

8 SubmittersRCV000499243 RCV001475971 RCV002496919 RCV004527608 RCV005056083

NM_001171.6(ABCC6):c.1526C>G (p.Ala509Gly)

SNV
Germline

Chr16:16190273

Conflicting classifications of pathogenicity

Autosomal recessive inherited pseudoxanthoma elasticum
Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2

Criteria Provided
Conflicting Classifications

CA7926276

rs_779408186

5 SubmittersRCV000499186 RCV000996233 RCV005018853

NM_001171.6(ABCC6):c.1519G>T (p.Glu507Ter)

SNV
Germline

Chr16:16190280

Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

No Assertion Criteria Provided

CA394889746

rs_368017088

1 SubmittersRCV000499114

NM_001171.6(ABCC6):c.1484T>A (p.Leu495His)

SNV
Germline

Chr16:16190315

Pathogenic/Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Condition: not provided
ABCC6-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA7926287

rs_72653769

3 SubmittersRCV000499258 RCV002524111 RCV004535567

NM_001171.6(ABCC6):c.1460G>A (p.Arg487Gln)

SNV
Germline

Chr16:16190339

Pathogenic/Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7926292

rs_72653768

3 SubmittersRCV000499102 RCV005018841 RCV003558404

NM_001171.6(ABCC6):c.1199C>T (p.Ser400Phe)

SNV
Germline

Chr16:16198160

Conflicting classifications of pathogenicity

Autosomal recessive inherited pseudoxanthoma elasticum
Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2

Criteria Provided
Conflicting Classifications

CA7926408

rs_747386965

3 SubmittersRCV000499233 RCV001857038 RCV002481595

NM_001171.6(ABCC6):c.1194C>G (p.Ser398Arg)

SNV
Germline

Chr16:16198165

Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

No Assertion Criteria Provided

CA394890431

rs_376518465

1 SubmittersRCV000499316

NM_001171.6(ABCC6):c.1192A>G (p.Ser398Gly)

SNV
Germline

Chr16:16198167

Pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

No Assertion Criteria Provided

CA278664274

rs_72653764

1 SubmittersRCV000499314

NM_001171.6(ABCC6):c.1108A>G (p.Asn370Asp)

SNV
Germline

Chr16:16202069

Conflicting classifications of pathogenicity

Autosomal recessive inherited pseudoxanthoma elasticum
Arterial calcification, generalized, of infancy, 2
ABCC6-related disorder
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7926465

rs_72653760

7 SubmittersRCV000499173 RCV001198805 RCV004535566 RCV005018839 RCV004017652

NM_001171.6(ABCC6):c.1091C>G (p.Thr364Arg)

SNV
Germline

Chr16:16202086

Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA7926468

rs_72653759

3 SubmittersRCV000499010 RCV001782996 RCV002496916

NM_001171.6(ABCC6):c.1087C>T (p.Gln363Ter)

SNV
Germline

Chr16:16202090

Pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA278666412

rs_72650698

2 SubmittersRCV000499276 RCV002506210

NM_001171.6(ABCC6):c.1064T>G (p.Leu355Arg)

SNV
Germline

Chr16:16202113

Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

No Assertion Criteria Provided

CA7926473

rs_72653758

1 SubmittersRCV000499048

NM_001171.6(ABCC6):c.951C>G (p.Ser317Arg)

SNV
Germline

Chr16:16203457

Pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

No Assertion Criteria Provided

CA278667021

rs_78678589

1 SubmittersRCV000499187

NM_001171.6(ABCC6):c.724G>T (p.Glu242Ter)

SNV
Germline

Chr16:16208798

Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2

Criteria Provided
Single Submitter

CA278668677

rs_72650697

2 SubmittersRCV000499079 RCV005010423

NM_001171.6(ABCC6):c.713C>A (p.Ser238Ter)

SNV
Germline

Chr16:16208809

Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

No Assertion Criteria Provided

CA394891464

rs_763591743

1 SubmittersRCV000499301

NM_001171.6(ABCC6):c.681C>G (p.Tyr227Ter)

SNV
Germline

Chr16:16208841

Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

No Assertion Criteria Provided

CA394891532

rs_1315925055

1 SubmittersRCV000499342

NM_001171.6(ABCC6):c.676G>A (p.Gly226Arg)

SNV
Germline

Chr16:16208846

Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

No Assertion Criteria Provided

CA278668692

rs_72653755

1 SubmittersRCV000499280

NM_001171.6(ABCC6):c.654G>T (p.Trp218Cys)

SNV
Germline

Chr16:16212193

Pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

No Assertion Criteria Provided

CA278669355

rs_72653754

1 SubmittersRCV000499170

NM_001171.6(ABCC6):c.601-2A>G

SNV
Germline

Chr16:16212248

Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

No Assertion Criteria Provided

CA394891916

rs_1555520991

1 SubmittersRCV000499234

NM_001171.6(ABCC6):c.595C>T (p.Gln199Ter)

SNV
Germline

Chr16:16214329

Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

No Assertion Criteria Provided

CA394892016

rs_1474063386

1 SubmittersRCV000499106

NM_001171.6(ABCC6):c.549G>A (p.Leu183=)

SNV
Germline

Chr16:16214375

Conflicting classifications of pathogenicity

Autosomal recessive inherited pseudoxanthoma elasticum
Condition: not provided

Criteria Provided
Conflicting Classifications

CA278670039

rs_72664281

2 SubmittersRCV000499166 RCV001597146

NM_001171.6(ABCC6):c.386G>A (p.Gly129Glu)

SNV
Germline

Chr16:16219642

Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

No Assertion Criteria Provided

CA278671489

rs_72653753

1 SubmittersRCV000499249

NM_001171.6(ABCC6):c.373G>T (p.Glu125Ter)

SNV
Germline

Chr16:16219655

Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

No Assertion Criteria Provided

CA394893344

rs_879956688

1 SubmittersRCV000499167

NM_001171.6(ABCC6):c.333G>A (p.Trp111Ter)

SNV
Germline

Chr16:16219834

Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

No Assertion Criteria Provided

CA278671540

rs_1002088882

1 SubmittersRCV000499345

NM_001171.6(ABCC6):c.220-1G>C

SNV
Germline

Chr16:16219948

Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

Criteria Provided
Single Submitter

CA278671610

rs_72664203

1 SubmittersRCV000499192

NM_001171.6(ABCC6):c.46C>T (p.Gln16Ter)

SNV
Germline

Chr16:16221822

Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

No Assertion Criteria Provided

CA395202720

rs_1555523535

1 SubmittersRCV000499357

NM_001171.6(ABCC6):c.37-1G>A

SNV
Germline

Chr16:16221832

Pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA279014409

rs_72657702

4 SubmittersRCV000499257 RCV005010424 RCV005230974

NM_001171.6(ABCC6):c.36+1G>T

SNV
Germline

Chr16:16223398

Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

No Assertion Criteria Provided

CA395202875

rs_1555523841

1 SubmittersRCV000499292

NM_001171.6(ABCC6):c.4041G>A (p.Gln1347=)

SNV
Germline

Chr16:16154873

Pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7925345

rs_63751111

2 SubmittersRCV000786044 RCV005092163

NM_001171.6(ABCC6):c.890G>A (p.Arg297His)

SNV
Germline

Chr16:16203518

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2

Criteria Provided
Conflicting Classifications

CA7926518

rs_199729978

2 SubmittersRCV000929950 RCV005021279

NM_001171.6(ABCC6):c.1060G>A (p.Val354Met)

SNV
Germline

Chr16:16202117

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2

Criteria Provided
Conflicting Classifications

CA7926474

rs_372132926

2 SubmittersRCV000996234 RCV002479175

NM_001171.6(ABCC6):c.2900G>A (p.Trp967Ter)

SNV
Germline

Chr16:16169741

Pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

No Assertion Criteria Provided

CA394884640

rs_2046997344

1 SubmittersRCV001254863

NM_001171.6(ABCC6):c.3892G>A (p.Val1298Ile)

SNV
Germline

Chr16:16155022

Conflicting classifications of pathogenicity

Arterial calcification, generalized, of infancy, 2
Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2

Criteria Provided
Conflicting Classifications

CA7925377

rs_63751325

3 SubmittersRCV001196250 RCV001863103 RCV005021489

NM_001171.6(ABCC6):c.1255C>T (p.Arg419Trp)

SNV
Germline

Chr16:16198104

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum
Arterial calcification, generalized, of infancy, 2
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste

Criteria Provided
Multiple Submitters
No Conflicts

CA7926391

rs_775853778

3 SubmittersRCV001378597 RCV002510593 RCV005014516

NM_001171.6(ABCC6):c.2901G>C (p.Trp967Cys)

SNV
Germline

Chr16:16169740

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA394884634

rs_2152235595

3 SubmittersRCV001531234 RCV002471116 RCV005374771

NM_001171.6(ABCC6):c.4070G>A (p.Arg1357Gln)

SNV
Germline

Chr16:16154766

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2

Criteria Provided
Conflicting Classifications

CA7925318

rs_201275608

2 SubmittersRCV001872210 RCV002506899

NM_001171.6(ABCC6):c.4218G>C (p.Gln1406His)

SNV
Germline

Chr16:16150763

Conflicting classifications of pathogenicity

Condition: not provided
Arterial calcification, generalized, of infancy, 2
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste

Criteria Provided
Conflicting Classifications

CA7925252

rs_149510465

2 SubmittersRCV001881357 RCV005016743

NM_001171.6(ABCC6):c.2096A>G (p.Glu699Gly)

SNV
Germline

Chr16:16182563

Conflicting classifications of pathogenicity

Condition: not provided
Arterial calcification, generalized, of infancy, 2
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste

Criteria Provided
Conflicting Classifications

CA394888540

rs_1252723064

2 SubmittersRCV001982694 RCV002484743

NM_001171.6(ABCC6):c.3458G>A (p.Arg1153His)

SNV
Germline

Chr16:16163041

Conflicting classifications of pathogenicity

Condition: not provided
Arterial calcification, generalized, of infancy, 2
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7925578

rs_553479685

3 SubmittersRCV001898674 RCV002482743 RCV003303318

NM_001171.6(ABCC6):c.3524T>C (p.Val1175Ala)

SNV
Germline

Chr16:16161547

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Autosomal recessive inherited pseudoxanthoma elasticum
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2

Criteria Provided
Conflicting Classifications

CA7925536

rs_376062004

4 SubmittersRCV001960167 RCV002562066 RCV004699135 RCV005016880

NM_001171.6(ABCC6):c.1774G>A (p.Val592Ile)

SNV
Germline

Chr16:16188836

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2

Criteria Provided
Conflicting Classifications

CA7926181

rs_190761354

3 SubmittersRCV002004793 RCV002497856

NM_001171.6(ABCC6):c.1780-17G>A

SNV
Germline

Chr16:16187228

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2

Criteria Provided
Conflicting Classifications

CA7926160

rs_547175985

2 SubmittersRCV001975406 RCV005016965

NM_001171.6(ABCC6):c.2140G>A (p.Gly714Arg)

SNV
Germline

Chr16:16182519

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7926000

rs_200513114

3 SubmittersRCV001870135 RCV002482474 RCV004039588

NM_001171.6(ABCC6):c.3887G>A (p.Gly1296Asp)

SNV
Germline

Chr16:16155027

Pathogenic/Likely pathogenic

Condition: not provided
Arterial calcification, generalized, of infancy, 2
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
ABCC6-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA7925379

rs_374086268

3 SubmittersRCV001951205 RCV002484801 RCV004538686

NM_001171.6(ABCC6):c.3704G>A (p.Arg1235Gln)

SNV
Germline

Chr16:16159513

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2
ABCC6-related disorder

Criteria Provided
Conflicting Classifications

CA7925479

rs_138700741

3 SubmittersRCV002022916 RCV005017077 RCV004538736

NM_001171.6(ABCC6):c.2661C>T (p.Arg887=)

SNV
Germline

Chr16:16175916

Conflicting classifications of pathogenicity

Condition: not provided
ABCC6-related disorder
Arterial calcification, generalized, of infancy, 2
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste

Criteria Provided
Conflicting Classifications

CA7925839

rs_376958386

3 SubmittersRCV002036258 RCV004738502 RCV005017098

NM_001171.6(ABCC6):c.3320T>C (p.Val1107Ala)

SNV
Germline

Chr16:16163179

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7925606

rs_780276741

3 SubmittersRCV001981921 RCV002484635 RCV004955900

NM_001171.6(ABCC6):c.1611G>A (p.Val537=)

SNV
Germline

Chr16:16190188

Conflicting classifications of pathogenicity

Condition: not provided
Arterial calcification, generalized, of infancy, 2
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste

Criteria Provided
Conflicting Classifications

CA493800502

rs_1486197417

2 SubmittersRCV002157679 RCV005017134

NM_001171.6(ABCC6):c.3725C>T (p.Thr1242Met)

SNV
Germline

Chr16:16159492

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2

Criteria Provided
Conflicting Classifications

CA7925476

rs_141449320

3 SubmittersRCV002200199 RCV005017114

NM_001171.6(ABCC6):c.3606G>A (p.Val1202=)

SNV
Germline

Chr16:16161465

Conflicting classifications of pathogenicity

Condition: not provided
ABCC6-related disorder
Arterial calcification, generalized, of infancy, 2
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste

Criteria Provided
Conflicting Classifications

CA7925517

rs_766504801

3 SubmittersRCV002120483 RCV004738540 RCV005017143

NM_001171.6(ABCC6):c.1432-5C>T

SNV
Germline

Chr16:16190372

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2

Criteria Provided
Conflicting Classifications

CA975108747

rs_2152270212

2 SubmittersRCV002082998 RCV005017120

NM_001171.6(ABCC6):c.1058C>T (p.Ala353Val)

SNV
Germline

Chr16:16202119

Conflicting classifications of pathogenicity

See cases
Inborn genetic diseases
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2

Criteria Provided
Conflicting Classifications

CA7926476

rs_369074083

3 SubmittersRCV002253133 RCV003094127 RCV005017165

NM_001171.6(ABCC6):c.1148C>A (p.Ser383Ter)

SNV
Germline

Chr16:16202029

Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

Criteria Provided
Single Submitter

CA394890528

rs_1277798362

1 SubmittersRCV002283757

NM_001171.6(ABCC6):c.3786C>T (p.Gly1262=)

SNV
Germline

Chr16:16157759

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2

Criteria Provided
Conflicting Classifications

CA7925418

rs_546064934

2 SubmittersRCV003070286 RCV005021543

NM_001171.6(ABCC6):c.1242C>T (p.Ser414=)

SNV
Germline

Chr16:16198117

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2

Criteria Provided
Conflicting Classifications

CA7926398

rs_759542954

2 SubmittersRCV003117957 RCV005021798

NM_001171.6(ABCC6):c.3510G>A (p.Trp1170Ter)

SNV
Germline

Chr16:16161561

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA394880203

rs_1249984461

2 SubmittersRCV003121790 RCV005021801

NM_001171.6(ABCC6):c.2928A>C (p.Ala976=)

SNV
Germline

Chr16:16169713

Conflicting classifications of pathogenicity

Condition: not provided
Arterial calcification, generalized, of infancy, 2
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste

Criteria Provided
Conflicting Classifications

CA493799387

rs_2046996113

2 SubmittersRCV002806558 RCV005008760

NM_001171.6(ABCC6):c.2416-10C>A

SNV
Germline

Chr16:16177636

Conflicting classifications of pathogenicity

Condition: not provided
Arterial calcification, generalized, of infancy, 2
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste

Criteria Provided
Conflicting Classifications

CA718565873

rs_1371067962

2 SubmittersRCV002877466 RCV005019419

NM_001171.6(ABCC6):c.3306+8G>A

SNV
Germline

Chr16:16165615

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2

Criteria Provided
Conflicting Classifications

CA7925635

rs_746787698

2 SubmittersRCV002979259 RCV005019528

NM_001171.6(ABCC6):c.392A>G (p.Gln131Arg)

SNV
Germline

Chr16:16219636

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2
Autosomal recessive inherited pseudoxanthoma elasticum

Criteria Provided
Conflicting Classifications

CA278671485

rs_369280729

3 SubmittersRCV002961283 RCV003420482 RCV005021736

NM_001171.6(ABCC6):c.2035G>T (p.Glu679Ter)

SNV
Unknown

Chr16:16182839

Pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

Criteria Provided
Single Submitter

CA278648254

rs_1050927346

1 SubmittersRCV003314461

NM_001171.6(ABCC6):c.3934C>T (p.Leu1312=)

SNV
Germline

Chr16:16154980

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2

Criteria Provided
Conflicting Classifications

CA493797368

rs_1195177013

2 SubmittersRCV003671459 RCV005014831

NM_001171.6(ABCC6):c.3939G>T (p.Leu1313=)

SNV
Germline

Chr16:16154975

Conflicting classifications of pathogenicity

Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA278625498

rs_371122759

2 SubmittersRCV005014898 RCV003722815

NM_001171.6(ABCC6):c.3598G>A (p.Gly1200Ser)

SNV
Germline

Chr16:16161473

Likely pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

Criteria Provided
Single Submitter

CA394879768

rs_2510960594

1 SubmittersRCV003990596

NM_001171.6(ABCC6):c.2279G>C (p.Arg760Pro)

SNV
Germline

Chr16:16178934

Pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum

Criteria Provided
Single Submitter

1 SubmittersRCV004788501

NM_001171.6(ABCC6):c.869G>A (p.Arg290Gln)

SNV
Germline

Chr16:16203539

Conflicting classifications of pathogenicity

Inborn genetic diseases
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2
Autosomal recessive inherited pseudoxanthoma elasticum

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004959075 RCV005017296

NM_001171.6(ABCC6):c.219+2T>C

SNV
Germline

Chr16:16221647

Likely pathogenic

Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2
Autosomal recessive inherited pseudoxanthoma elasticum

Criteria Provided
Single Submitter

1 SubmittersRCV005019738

NM_001171.6(ABCC6):c.4404-1G>A

SNV
Germline

Chr16:16150242