"Fulgent Genetics, Fulgent Genetics"[submitter] AND "ABCC6"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 433370	NM_001171.6(ABCC6):c.*38G>A	ABCC6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +3 more	GBenign/Likely benign
Select item 1431005	NM_001171.6(ABCC6):c.4477T>C (p.Phe1493Leu)	ABCC6 (F1379L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1542691	NM_001171.6(ABCC6):c.4476G>C (p.Leu1492=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 1484716	NM_001171.6(ABCC6):c.4448C>A (p.Pro1483Gln)	ABCC6 (P1483Q +1 more)	Single nucleotide variant (missense variant +1 more)	Arterial calcification, generalized, of infancy, 2 +3 more	GUncertain significance
Select item 433367	NM_001171.6(ABCC6):c.4448C>T (p.Pro1483Leu)	ABCC6 (P1483L +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +4 more	GUncertain significance
Select item 433295	NM_001171.6(ABCC6):c.4441G>A (p.Gly1481Ser)	ABCC6 (G1481S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1597990	NM_001171.6(ABCC6):c.4404-5C>A	ABCC6	Single nucleotide variant (intron variant)	Autosomal recessive inherited pseudoxanthoma elasticum +3 more	GLikely benign
Select item 1469680	NM_001171.6(ABCC6):c.4382G>A (p.Arg1461His)	ABCC6, LOC125146421 (R1347H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 433475	NM_001171.6(ABCC6):c.4381C>T (p.Arg1461Cys)	ABCC6, LOC125146421 (R1461C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 6577	NM_001171.6(ABCC6):c.4375C>T (p.Arg1459Cys)	ABCC6, LOC125146421 (R1459C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GUncertain significance
Select item 1602973	NM_001171.6(ABCC6):c.4332C>T (p.Leu1444=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +3 more	GLikely benign
Select item 1356089	NM_001171.6(ABCC6):c.4294G>A (p.Val1432Met)	ABCC6 (V1318M +1 more)	Single nucleotide variant (missense variant +1 more)	Arterial calcification, generalized, of infancy, 2 +3 more	GUncertain significance
Select item 1589346	NM_001171.6(ABCC6):c.4278C>T (p.Asp1426=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	Arterial calcification, generalized, of infancy, 2 +3 more	GLikely benign
Select item 433357	NM_001171.6(ABCC6):c.4254G>A (p.Arg1418=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +3 more	GBenign/Likely benign
Select item 1383201	NM_001171.6(ABCC6):c.4210G>A (p.Val1404Met)	ABCC6 (V1404M +1 more)	Single nucleotide variant (missense variant +1 more)	Arterial calcification, generalized, of infancy, 2 +3 more	GUncertain significance
Select item 433351	NM_001171.6(ABCC6):c.4182del (p.Lys1394fs)	ABCC6 (K1394fs +1 more)	Deletion (frameshift variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +3 more	GPathogenic
Select item 1596063	NM_001171.6(ABCC6):c.4176G>A (p.Gln1392=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +3 more	GLikely benign
Select item 1507000	NM_001171.6(ABCC6):c.4130C>T (p.Thr1377Met)	ABCC6 (T1377M +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +3 more	GUncertain significance
Select item 433350	NM_001171.6(ABCC6):c.4104del (p.Asp1368fs)	ABCC6 (D1254fs +1 more)	Deletion (frameshift variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +3 more	GPathogenic
Select item 1359254	NM_001171.6(ABCC6):c.4070G>A (p.Arg1357Gln)	ABCC6 (R1243Q +1 more)	Single nucleotide variant (missense variant +1 more)	Arterial calcification, generalized, of infancy, 2 +3 more	GConflicting classifications of pathogenicity
Select item 1614936	NM_001171.6(ABCC6):c.4042-15G>A	ABCC6	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 265021	NM_001171.6(ABCC6):c.4016G>A (p.Arg1339His)	ABCC6 (R1339H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1448478	NM_001171.6(ABCC6):c.3997G>A (p.Val1333Met)	ABCC6 (V1333M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1457838	NM_001171.6(ABCC6):c.3987dup (p.Ile1330fs)	ABCC6 (I1216fs +1 more)	Duplication (frameshift variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +3 more	GPathogenic/Likely pathogenic
Select item 1349413	NM_001171.6(ABCC6):c.3979G>A (p.Gly1327Arg)	ABCC6 (G1213R +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +3 more	GUncertain significance
Select item 1515569	NM_001171.6(ABCC6):c.3977A>G (p.Asp1326Gly)	ABCC6 (D1212G +1 more)	Single nucleotide variant (missense variant +1 more)	Arterial calcification, generalized, of infancy, 2 +3 more	GUncertain significance
Select item 6564	NM_001171.6(ABCC6):c.3940C>T (p.Arg1314Trp)	ABCC6 (R1314W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic
Select item 6579	NM_001171.6(ABCC6):c.3904G>A (p.Gly1302Arg)	ABCC6 (G1302R +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +3 more	GPathogenic/Likely pathogenic
Select item 1284660	NM_001171.6(ABCC6):c.3903C>T (p.Thr1301=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 1587518	NM_001171.6(ABCC6):c.3891C>T (p.Ile1297=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +3 more	GLikely benign
Select item 1456552	NM_001171.6(ABCC6):c.3887G>A (p.Gly1296Asp)	ABCC6 (G1296D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 433395	NM_001171.6(ABCC6):c.3883-5G>A	ABCC6	Single nucleotide variant (intron variant)	Autosomal recessive inherited pseudoxanthoma elasticum +2 more	GUncertain significance
Select item 433394	NM_001171.6(ABCC6):c.3883-6G>A	ABCC6	Single nucleotide variant (intron variant)	Autosomal recessive inherited pseudoxanthoma elasticum +3 more	GPathogenic/Likely pathogenic
Select item 1509103	NM_001171.6(ABCC6):c.3882+5G>A	ABCC6	Single nucleotide variant (intron variant)	not provided +3 more	GUncertain significance
Select item 1463152	NM_001171.6(ABCC6):c.3870C>T (p.His1290=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 1524478	NM_001171.6(ABCC6):c.3853G>A (p.Val1285Met)	ABCC6 (V1171M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1550205	NM_001171.6(ABCC6):c.3837G>A (p.Pro1279=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +3 more	GLikely benign
Select item 1487246	NM_001171.6(ABCC6):c.3836C>T (p.Pro1279Leu)	ABCC6 (P1165L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 433294	NM_001171.6(ABCC6):c.3823C>T (p.Arg1275Ter)	ABCC6 (R1275* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GPathogenic
Select item 6570	NM_001171.6(ABCC6):c.3803G>A (p.Arg1268Gln)	ABCC6 (R1268Q +1 more)	Single nucleotide variant (missense variant +1 more)	Arterial calcification, generalized, of infancy, 2 +3 more	GBenign
Select item 444363	NM_001171.6(ABCC6):c.3802C>T (p.Arg1268Trp)	ABCC6 (R1268W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 726255	NM_001171.6(ABCC6):c.3795C>T (p.Ile1265=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +3 more	GLikely benign
Select item 433435	NM_001171.6(ABCC6):c.3787G>A (p.Gly1263Arg)	ABCC6 (G1263R +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +3 more	GConflicting classifications of pathogenicity
Select item 433330	NM_001171.6(ABCC6):c.3774dup (p.Trp1259fs)	ABCC6 (W1259fs +1 more)	Duplication (frameshift variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +3 more	GPathogenic
Select item 6563	NM_001171.6(ABCC6):c.3775del (p.Trp1259fs)	ABCC6 (W1259fs +1 more)	Deletion (frameshift variant +1 more)	not provided +3 more	GPathogenic
Select item 1521703	NM_001171.6(ABCC6):c.3770C>A (p.Pro1257His)	ABCC6 (P1143H +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +3 more	GUncertain significance
Select item 1018800	NM_001171.6(ABCC6):c.3755C>T (p.Thr1252Ile)	ABCC6 (T1138I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1651573	NM_001171.6(ABCC6):c.3735+10G>A	ABCC6	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 433323	NM_001171.6(ABCC6):c.3703C>T (p.Arg1235Trp)	ABCC6 (R1235W +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +3 more	GPathogenic/Likely pathogenic
Select item 493174	NM_001171.6(ABCC6):c.3691G>A (p.Val1231Met)	ABCC6 (V1231M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1348231	NM_001171.6(ABCC6):c.3686G>A (p.Ser1229Asn)	ABCC6 (S1115N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 433320	NM_001171.6(ABCC6):c.3662G>A (p.Arg1221His)	ABCC6 (R1221H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic
Select item 433319	NM_001171.6(ABCC6):c.3661C>T (p.Arg1221Cys)	ABCC6 (R1221C +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +4 more	GPathogenic/Likely pathogenic
Select item 1416323	NM_001171.6(ABCC6):c.3586C>G (p.His1196Asp)	ABCC6 (H1082D +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +3 more	GUncertain significance
Select item 717742	NM_001171.6(ABCC6):c.3564G>A (p.Thr1188=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 433401	NM_001171.6(ABCC6):c.3507-1G>A	ABCC6	Single nucleotide variant (splice acceptor variant)	Autosomal recessive inherited pseudoxanthoma elasticum +3 more	GPathogenic
Select item 281169	NM_001171.6(ABCC6):c.3507-3C>T	ABCC6	Single nucleotide variant (intron variant)	Arterial calcification, generalized, of infancy, 2 +5 more	GBenign/Likely benign
Select item 1616895	NM_001171.6(ABCC6):c.3507-14G>A	ABCC6	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 1631070	NM_001171.6(ABCC6):c.3507-15C>T	ABCC6	Single nucleotide variant (intron variant)	Autosomal recessive inherited pseudoxanthoma elasticum +3 more	GLikely benign
Select item 1621927	NM_001171.6(ABCC6):c.3507-17G>A	ABCC6	Single nucleotide variant (intron variant)	Autosomal recessive inherited pseudoxanthoma elasticum +3 more	GLikely benign
Select item 1165722	NM_001171.6(ABCC6):c.3507-19C>T	ABCC6	Single nucleotide variant (intron variant)	Autosomal recessive inherited pseudoxanthoma elasticum +3 more	GBenign/Likely benign
Select item 372295	NM_001171.6(ABCC6):c.3491G>A (p.Arg1164Gln)	ABCC6 (R1164Q +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive inherited pseudoxanthoma elasticum +3 more	GPathogenic/Likely pathogenic
Select item 6572	NM_001171.6(ABCC6):c.3490C>T (p.Arg1164Ter)	ABCC6 (R1164* +1 more)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic
Select item 1479567	NM_001171.6(ABCC6):c.3488C>T (p.Pro1163Leu)	ABCC6 (P1163L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1608910	NM_001171.6(ABCC6):c.3477G>A (p.Arg1159=)	ABCC6	Single nucleotide variant (synonymous variant)	Pseudoxanthoma elasticum, forme fruste +3 more	GLikely benign
Select item 1486738	NM_001171.6(ABCC6):c.3460G>A (p.Val1154Ile)	ABCC6 (V1154I +1 more)	Single nucleotide variant (missense variant)	Arterial calcification, generalized, of infancy, 2 +3 more	GUncertain significance
Select item 1394987	NM_001171.6(ABCC6):c.3458G>A (p.Arg1153His)	ABCC6 (R1039H +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive inherited pseudoxanthoma elasticum +4 more	GConflicting classifications of pathogenicity
Select item 1353117	NM_001171.6(ABCC6):c.3457C>T (p.Arg1153Cys)	ABCC6 (R1039C +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1464491	NM_001171.6(ABCC6):c.3431C>T (p.Ala1144Val)	ABCC6 (A1144V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 726267	NM_001171.6(ABCC6):c.3422G>A (p.Arg1141Gln)	ABCC6 (R1141Q +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive inherited pseudoxanthoma elasticum +3 more	GLikely benign
Select item 6559	NM_001171.6(ABCC6):c.3421C>T (p.Arg1141Ter)	ABCC6 (R1141* +1 more)	Single nucleotide variant (nonsense)	ABCC6-related disorder +7 more	GPathogenic
Select item 6561	NM_001171.6(ABCC6):c.3413G>A (p.Arg1138Gln)	ABCC6 (R1138Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 6571	NM_001171.6(ABCC6):c.3412C>T (p.Arg1138Trp)	ABCC6 (R1138W +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1616403	NM_001171.6(ABCC6):c.3411C>G (p.Val1137=)	ABCC6	Single nucleotide variant (synonymous variant)	Autosomal recessive inherited pseudoxanthoma elasticum +3 more	GLikely benign
Select item 6569	NM_001171.6(ABCC6):c.3389C>T (p.Thr1130Met)	ABCC6 (T1130M +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 433314	NM_001171.6(ABCC6):c.3381G>A (p.Met1127Ile)	ABCC6 (M1127I +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1550060	NM_001171.6(ABCC6):c.3363G>A (p.Ser1121=)	ABCC6	Single nucleotide variant (synonymous variant)	Autosomal recessive inherited pseudoxanthoma elasticum +3 more	GLikely benign
Select item 433308	NM_001171.6(ABCC6):c.3341G>A (p.Arg1114His)	ABCC6 (R1114H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 433307	NM_001171.6(ABCC6):c.3340C>T (p.Arg1114Cys)	ABCC6 (R1114C +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive inherited pseudoxanthoma elasticum +3 more	GPathogenic/Likely pathogenic
Select item 1431403	NM_001171.6(ABCC6):c.3326C>T (p.Ser1109Leu)	ABCC6 (S1109L +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1432078	NM_001171.6(ABCC6):c.3320T>C (p.Val1107Ala)	ABCC6 (V1107A +1 more)	Single nucleotide variant (missense variant)	Arterial calcification, generalized, of infancy, 2 +3 more	GUncertain significance
Select item 679625	NM_001171.6(ABCC6):c.3289C>A (p.Leu1097Ile)	ABCC6 (L1097I +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +3 more	GBenign/Likely benign
Select item 433305	NM_001171.6(ABCC6):c.3190C>T (p.Arg1064Trp)	ABCC6 (R1064W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 433302	NM_001171.6(ABCC6):c.3145T>G (p.Ser1049Ala)	ABCC6 (S1049A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 433416	NM_001171.6(ABCC6):c.3106_3108del (p.Phe1036del)	ABCC6 (F1036del +1 more)	Deletion (inframe_deletion +1 more)	not provided +3 more	GUncertain significance
Select item 1414938	NM_001171.6(ABCC6):c.3043C>T (p.Arg1015Trp)	ABCC6 (R1015W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 713368	NM_001171.6(ABCC6):c.3024G>A (p.Ala1008=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +3 more	GLikely benign
Select item 451208	NM_001171.6(ABCC6):c.2965G>A (p.Gly989Arg)	ABCC6 (G989R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1504456	NM_001171.6(ABCC6):c.2922C>A (p.Asp974Glu)	ABCC6 (D860E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 433298	NM_001171.6(ABCC6):c.2891G>C (p.Arg964Pro)	ABCC6 (R964P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1368913	NM_001171.6(ABCC6):c.2882C>T (p.Ser961Phe)	ABCC6 (S961F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Arterial calcification, generalized, of infancy, 2 +3 more	GUncertain significance
Select item 433293	NM_001171.6(ABCC6):c.2836C>A (p.Leu946Ile)	ABCC6 (L946I +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +4 more	GBenign/Likely benign
Select item 6560	NM_001171.6(ABCC6):c.2787+1G>T	ABCC6	Single nucleotide variant (splice donor variant)	Arterial calcification, generalized, of infancy, 2 +3 more	GPathogenic
Select item 423872	NM_001171.6(ABCC6):c.2782G>A (p.Gly928Ser)	ABCC6 (G928S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 710345	NM_001171.6(ABCC6):c.2781C>T (p.Tyr927=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 715676	NM_001171.6(ABCC6):c.2707G>C (p.Glu903Gln)	ABCC6 (E789Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 710346	NM_001171.6(ABCC6):c.2695C>T (p.Arg899Cys)	ABCC6 (R899C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GLikely benign
Select item 1399946	NM_001171.6(ABCC6):c.2686G>A (p.Glu896Lys)	ABCC6 (E782K +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +3 more	GUncertain significance
Select item 1445388	NM_001171.6(ABCC6):c.2660G>A (p.Arg887His)	ABCC6 (R887H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 433484	NM_001171.6(ABCC6):c.2659C>T (p.Arg887Cys)	ABCC6 (R887C +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +3 more	GBenign/Likely benign

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