ClinVar for MedGen (Select 698415) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065519	NM_001171.6(ABCC6):c.3598G>A (p.Gly1200Ser)	ABCC6 (G1086S +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GLikely pathogenic
Select item 2580302	GRCh37/hg19 16p13.11(chr16:15475455-16308356)x1	ABCC1, ABCC6 +6 more	Copy number loss	Autosomal recessive inherited pseudoxanthoma elasticum	GPathogenic
Select item 2572576	NM_001171.6(ABCC6):c.2035G>T (p.Glu679Ter)	ABCC6 (E565* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GPathogenic
Select item 1805188	NM_001171.6(ABCC6):c.1576C>T (p.Arg526Trp)	ABCC6 (R412W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1805186	NM_001171.6(ABCC6):c.2996-7_2996-4del	ABCC6	Microsatellite (intron variant)	Autosomal recessive inherited pseudoxanthoma elasticum	GLikely benign
Select item 1802149	NM_001171.6(ABCC6):c.2738_2739del (p.Pro913fs)	ABCC6 (P799fs +1 more)	Deletion (frameshift variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GPathogenic
Select item 1705443	NM_001171.6(ABCC6):c.1148C>A (p.Ser383Ter)	ABCC6 (S269* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GLikely pathogenic
Select item 1694788	NM_001171.6(ABCC6):c.2649C>T (p.Pro883=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 1691111	NM_001171.6(ABCC6):c.1868-85del	ABCC6	Deletion (intron variant)	Arterial calcification, generalized, of infancy, 2 +2 more	GBenign
Select item 1691110	NM_001171.6(ABCC6):c.1868-57G>A	ABCC6	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1691106	NM_001171.6(ABCC6):c.1338+62C>G	ABCC6	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1690709	NM_001171.6(ABCC6):c.1120C>G (p.Leu374Val)	ABCC6 (L260V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1679169	NM_001171.6(ABCC6):c.24C>A (p.Cys8Ter)	ABCC6 (C8*)	Single nucleotide variant (nonsense +2 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
Select item 1654921	NM_001171.6(ABCC6):c.1338+16A>C	ABCC6	Single nucleotide variant (intron variant)	Autosomal recessive inherited pseudoxanthoma elasticum +3 more	GLikely benign
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 1646492	NM_001171.6(ABCC6):c.1872C>T (p.Ala624=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 1632221	NM_001171.6(ABCC6):c.2079G>A (p.Val693=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 1631702	NM_001171.6(ABCC6):c.1636-20G>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 1616895	NM_001171.6(ABCC6):c.3507-14G>A	ABCC6	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
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 1614936	NM_001171.6(ABCC6):c.4042-15G>A	ABCC6	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
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 1606073	NM_001171.6(ABCC6):c.2521C>T (p.Leu841=)	ABCC6	Single nucleotide variant (synonymous variant)	Arterial calcification, generalized, of infancy, 2 +3 more	GLikely benign
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 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 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 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 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 1580538	NM_001171.6(ABCC6):c.2397T>G (p.Gly799=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +3 more	GBenign/Likely benign
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 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 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 1536416	NM_001171.6(ABCC6):c.1569C>A (p.Gly523=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +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 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 1518499	NM_001171.6(ABCC6):c.1843G>A (p.Val615Ile)	ABCC6 (V501I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1517504	NM_001171.6(ABCC6):c.1649T>C (p.Val550Ala)	ABCC6 (V436A +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +3 more	GUncertain significance
Select item 1517123	NM_001171.6(ABCC6):c.1243G>A (p.Val415Met)	ABCC6 (V301M +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 1512578	NM_001171.6(ABCC6):c.1735A>G (p.Lys579Glu)	ABCC6 (K579E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1511071	NM_001171.6(ABCC6):c.1232_1233delinsGC (p.Asn411Ser)	ABCC6 (N411S +1 more)	Indel (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +3 more	GUncertain significance
Select item 1510950	NM_001171.6(ABCC6):c.2650G>A (p.Glu884Lys)	ABCC6 (E770K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
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 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 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 1501641	NM_001171.6(ABCC6):c.2074G>A (p.Ala692Thr)	ABCC6 (A578T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1488881	NM_001171.6(ABCC6):c.1324G>A (p.Val442Ile)	ABCC6 (V328I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
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 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 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 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 1478452	NM_001171.6(ABCC6):c.1780-11G>A	ABCC6	Single nucleotide variant (intron variant)	not provided +3 more	GUncertain significance
Select item 1472910	NM_001171.6(ABCC6):c.2131G>A (p.Val711Met)	ABCC6 (V597M +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +4 more	GUncertain significance
Select item 1469680	NM_001171.6(ABCC6):c.4382G>A (p.Arg1461His)	ABCC6, LOC125146421 (R1347H +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +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 1464096	NM_001171.6(ABCC6):c.1291T>C (p.Trp431Arg)	ABCC6 (W431R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1463638	NM_001171.6(ABCC6):c.1555G>A (p.Gly519Ser)	ABCC6 (G405S +1 more)	Single nucleotide variant (missense variant +1 more)	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 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 1456552	NM_001171.6(ABCC6):c.3887G>A (p.Gly1296Asp)	ABCC6 (G1296D +1 more)	Single nucleotide variant (missense variant +1 more)	ABCC6-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 1450223	NM_001171.6(ABCC6):c.1774G>A (p.Val592Ile)	ABCC6 (V478I +1 more)	Single nucleotide variant (missense variant +1 more)	Arterial calcification, generalized, of infancy, 2 +3 more	GConflicting classifications of pathogenicity
Select item 1449564	NM_001171.6(ABCC6):c.2104G>C (p.Val702Leu)	ABCC6 (V588L +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +3 more	GUncertain significance
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 1446784	NM_001171.6(ABCC6):c.2086G>A (p.Val696Met)	ABCC6 (V696M +1 more)	Single nucleotide variant (missense variant +1 more)	Arterial calcification, generalized, of infancy, 2 +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 1445010	NM_001171.6(ABCC6):c.2096A>G (p.Glu699Gly)	ABCC6 (E585G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1439547	NM_001171.6(ABCC6):c.2131G>C (p.Val711Leu)	ABCC6 (V711L +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +3 more	GUncertain significance
Select item 1434864	NM_001171.6(ABCC6):c.2409G>C (p.Gln803His)	ABCC6 (Q689H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1433717	NM_001171.6(ABCC6):c.3524T>C (p.Val1175Ala)	ABCC6 (V1175A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 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 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 1428042	NM_001171.6(ABCC6):c.1570G>A (p.Ala524Thr)	ABCC6 (A524T +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +3 more	GUncertain significance
Select item 1424914	NM_001171.6(ABCC6):c.1577G>A (p.Arg526Gln)	ABCC6 (R526Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
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 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 1406920	NM_001171.6(ABCC6):c.2119G>A (p.Val707Met)	ABCC6 (V707M +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +4 more	GUncertain significance
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 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 1386620	NM_001171.6(ABCC6):c.1570G>T (p.Ala524Ser)	ABCC6 (A524S +1 more)	Single nucleotide variant (missense variant +1 more)	Arterial calcification, generalized, of infancy, 2 +3 more	GUncertain significance
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 1381859	NM_001171.6(ABCC6):c.2261C>G (p.Ser754Cys)	ABCC6 (S754C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1371220	NM_001171.6(ABCC6):c.1264G>A (p.Glu422Lys)	ABCC6 (E422K +1 more)	Single nucleotide variant (missense variant +1 more)	Arterial calcification, generalized, of infancy, 2 +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 1363383	NM_001171.6(ABCC6):c.1699G>A (p.Ala567Thr)	ABCC6 (A453T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
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 1356514	NM_001171.6(ABCC6):c.2140G>A (p.Gly714Arg)	ABCC6 (G600R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
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 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 1351391	NM_001171.6(ABCC6):c.2415A>G (p.Thr805=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GUncertain significance
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 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 1313790	NM_001171.6(ABCC6):c.259G>A (p.Val87Met)	ABCC6 (V87M)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1301770	NM_022166.4(XYLT1):c.2807C>T (p.Thr936Met)	XYLT1 (T936M)	Single nucleotide variant (missense variant)	Autosomal recessive inherited pseudoxanthoma elasticum +2 more	GUncertain significance
Select item 1294383	NM_001171.6(ABCC6):c.1867+86T>C	ABCC6	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
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 1284531	NM_001171.6(ABCC6):c.1963C>A (p.Gln655Lys)	ABCC6 (Q541K +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +3 more	GUncertain significance
Select item 1258585	NM_001171.6(ABCC6):c.345+12T>C	ABCC6	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign

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