ABCC6[gene] and "single gene"[properties] - 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)	ABCC6-related disorder +3 more	GLikely benign
Select item 433369	NM_001171.6(ABCC6):c.*17G>A	ABCC6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GBenign
Select item 1982507	NM_001171.6(ABCC6):c.4512_*5del (p.Ter1504Xaa)	ABCC6	Deletion (stop lost +1 more)	not provided	GUncertain significance
Select item 433368	NM_001171.6(ABCC6):c.4501G>A (p.Gly1501Ser)	ABCC6 (G1501S +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GLikely pathogenic
Select item 1900243	NM_001171.6(ABCC6):c.4490C>T (p.Ala1497Val)	ABCC6 (A1383V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2119803	NM_001171.6(ABCC6):c.4489G>A (p.Ala1497Thr)	ABCC6 (A1383T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1315187	NM_001171.6(ABCC6):c.4487T>C (p.Leu1496Pro)	ABCC6 (L1382P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2823668	NM_001171.6(ABCC6):c.4484G>C (p.Arg1495Thr)	ABCC6 (R1381T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2108792	NM_001171.6(ABCC6):c.4482C>T (p.Tyr1494=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely 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)	Arterial calcification, generalized, of infancy, 2 +3 more	GLikely benign
Select item 722502	NM_001171.6(ABCC6):c.4473C>T (p.Gly1491=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1431998	NM_001171.6(ABCC6):c.4459_4470del (p.Leu1487_Lys1490del)	ABCC6	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1608607	NM_001171.6(ABCC6):c.4458G>C (p.Leu1486=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1640636	NM_001171.6(ABCC6):c.4449G>A (p.Pro1483=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	not provided	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)	Pseudoxanthoma elasticum, forme fruste +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)	ABCC6-related disorder +4 more	GUncertain significance
Select item 2090213	NM_001171.6(ABCC6):c.4446C>A (p.Ser1482Arg)	ABCC6 (S1482R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1937432	NM_001171.6(ABCC6):c.4445G>C (p.Ser1482Thr)	ABCC6 (S1482T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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)	Autosomal recessive inherited pseudoxanthoma elasticum +3 more	GUncertain significance
Select item 2882621	NM_001171.6(ABCC6):c.4440C>T (p.Ser1480=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2190486	NM_001171.6(ABCC6):c.4434A>G (p.Ala1478=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 433365	NM_001171.6(ABCC6):c.4434del (p.Glu1479fs)	ABCC6 (E1365fs +1 more)	Deletion (frameshift variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GLikely pathogenic
Select item 3239454	NM_001171.6(ABCC6):c.4430T>G (p.Val1477Gly)	ABCC6 (V1363G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 727260	NM_001171.6(ABCC6):c.4425G>A (p.Gly1475=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 812211	NM_001171.6(ABCC6):c.4424G>A (p.Gly1475Glu)	ABCC6 (G1475E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 433364	NM_001171.6(ABCC6):c.4420A>T (p.Lys1474Ter)	ABCC6 (K1474* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GLikely pathogenic
Select item 1411064	NM_001171.6(ABCC6):c.4417G>A (p.Asp1473Asn)	ABCC6 (D1359N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1356349	NM_001171.6(ABCC6):c.4404-2A>C	ABCC6	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1963405	NM_001171.6(ABCC6):c.4404-5C>T	ABCC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1597990	NM_001171.6(ABCC6):c.4404-5C>A	ABCC6	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 1400778	NM_001171.6(ABCC6):c.4404-7C>A	ABCC6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2073554	NM_001171.6(ABCC6):c.4404-17C>G	ABCC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1550784	NM_001171.6(ABCC6):c.4404-17C>T	ABCC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1899986	NM_001171.6(ABCC6):c.4404-23_4404-20del	ABCC6	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1636072	NM_001171.6(ABCC6):c.4404-20T>C	ABCC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1625268	NM_001171.6(ABCC6):c.4404-20T>G	ABCC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245693	NM_001171.6(ABCC6):c.4404-31A>G	ABCC6	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1225077	NM_001171.6(ABCC6):c.4404-76A>G	ABCC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 433452	NM_001171.6(ABCC6):c.4341G>A (p.Trp1447Ter)	ABCC6 (W1447* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GLikely pathogenic
Select item 433362	NM_001171.6(ABCC6):c.4335del (p.Ser1446fs)	ABCC6 (S1446fs +1 more)	Deletion (frameshift variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GLikely pathogenic
Select item 1602973	NM_001171.6(ABCC6):c.4332C>T (p.Leu1444=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 433514	NM_001171.6(ABCC6):c.4324G>A (p.Ala1442Thr)	ABCC6 (A1442T +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
Select item 433361	NM_001171.6(ABCC6):c.4318del (p.Met1440fs)	ABCC6 (M1440fs +1 more)	Deletion (frameshift variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GLikely pathogenic
Select item 433360	NM_001171.6(ABCC6):c.4306_4312del (p.Thr1436fs)	ABCC6 (T1322fs +1 more)	Deletion (frameshift variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GLikely pathogenic
Select item 2414971	NM_001171.6(ABCC6):c.4308G>A (p.Thr1436=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 433359	NM_001171.6(ABCC6):c.4305C>T (p.Gly1435=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
Select item 2093115	NM_001171.6(ABCC6):c.4302T>C (p.Pro1434=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2125085	NM_001171.6(ABCC6):c.4297del (p.Asp1433fs)	ABCC6 (D1319fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1356089	NM_001171.6(ABCC6):c.4294G>A (p.Val1432Met)	ABCC6 (V1318M +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +3 more	GUncertain significance
Select item 2173008	NM_001171.6(ABCC6):c.4293C>T (p.Ala1431=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2137788	NM_001171.6(ABCC6):c.4279G>A (p.Glu1427Lys)	ABCC6 (E1427K +1 more)	Single nucleotide variant (missense variant +1 more)	ABCC6-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1589346	NM_001171.6(ABCC6):c.4278C>T (p.Asp1426=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +3 more	GLikely benign
Select item 433358	NM_001171.6(ABCC6):c.4271T>C (p.Ile1424Thr)	ABCC6 (I1424T +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
Select item 1950760	NM_001171.6(ABCC6):c.4269C>T (p.Leu1423=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2419725	NM_001171.6(ABCC6):c.4258A>C (p.Thr1420Pro)	ABCC6 (T1306P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 433526	NM_001171.6(ABCC6):c.4254del (p.Lys1419fs)	ABCC6 (K1305fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 433357	NM_001171.6(ABCC6):c.4254G>A (p.Arg1418=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 433356	NM_001171.6(ABCC6):c.4253G>A (p.Arg1418Gln)	ABCC6 (R1418Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2151287	NM_001171.6(ABCC6):c.4252C>T (p.Arg1418Trp)	ABCC6 (R1418W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2099991	NM_001171.6(ABCC6):c.4252C>A (p.Arg1418=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2105895	NM_001171.6(ABCC6):c.4251C>G (p.Leu1417=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 591526	NM_001171.6(ABCC6):c.4249C>G (p.Leu1417Val)	ABCC6 (L1417V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2125745	NM_001171.6(ABCC6):c.4248T>C (p.Leu1416=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2646262	NM_001171.6(ABCC6):c.4245C>T (p.Ala1415=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 6566	NM_001171.6(ABCC6):c.4243_4244insAGAA (p.Ala1415fs)	ABCC6 (A1301fs +1 more)	Insertion (frameshift variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GPathogenic
Select item 2632391	NM_001171.6(ABCC6):c.4242dup (p.Ala1415fs)	ABCC6 (A1301fs +1 more)	Duplication (frameshift variant +1 more)	ABCC6-related disorder	GUncertain significance
Select item 433446	NM_001171.6(ABCC6):c.4241G>A (p.Arg1414His)	ABCC6 (R1414H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1430174	NM_001171.6(ABCC6):c.4240C>T (p.Arg1414Cys)	ABCC6 (R1300C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1924419	NM_001171.6(ABCC6):c.4236G>A (p.Leu1412=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2696674	NM_001171.6(ABCC6):c.4234C>T (p.Leu1412=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1565225	NM_001171.6(ABCC6):c.4227C>T (p.Leu1409=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1407530	NM_001171.6(ABCC6):c.4226T>A (p.Leu1409His)	ABCC6 (L1295H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 433355	NM_001171.6(ABCC6):c.4220_4221insGAAA (p.Gln1408fs)	ABCC6 (Q1294fs +1 more)	Insertion (frameshift variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GLikely pathogenic
Select item 1386206	NM_001171.6(ABCC6):c.4218G>C (p.Gln1406His)	ABCC6 (Q1406H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 30338	NM_001171.6(ABCC6):c.4216C>A (p.Gln1406Lys)	ABCC6 (Q1406K +1 more)	Single nucleotide variant (missense variant +1 more)	Arterial calcification, generalized, of infancy, 2 +1 more	GPathogenic
Select item 433380	NM_001171.6(ABCC6):c.4213G>A (p.Gly1405Ser)	ABCC6 (G1405S +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GPathogenic
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 2126656	NM_001171.6(ABCC6):c.4209C>G (p.Ser1403Arg)	ABCC6 (S1289R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1513793	NM_001171.6(ABCC6):c.4209C>T (p.Ser1403=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 433354	NM_001171.6(ABCC6):c.4209C>A (p.Ser1403Arg)	ABCC6 (S1403R +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GPathogenic
Select item 433453	NM_001171.6(ABCC6):c.4209-2A>C	ABCC6	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1975995	NM_001171.6(ABCC6):c.4209-3C>T	ABCC6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2856739	NM_001171.6(ABCC6):c.4209-6T>C	ABCC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1571086	NM_001171.6(ABCC6):c.4209-8G>A	ABCC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1425783	NM_001171.6(ABCC6):c.4209-11A>G	ABCC6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1643152	NM_001171.6(ABCC6):c.4209-18T>C	ABCC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1660299	NM_001171.6(ABCC6):c.4209-20A>T	ABCC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 433442	NM_001171.5(ABCC6):c.2996-1724_4209-478del	ABCC6	Deletion	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
Select item 6573	NG_007558.2:g.(60799_60814)_(77206_77221)del	ABCC6	Deletion	Autosomal recessive inherited pseudoxanthoma elasticum	GPathogenic
Select item 152597	GRCh38/hg38 16p13.11(chr16:16151468-16165427)x1	ABCC6	Copy number loss	See cases	GBenign
Select item 1932773	NM_001171.6(ABCC6):c.4208+11C>T	ABCC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 433396	NM_001171.6(ABCC6):c.4208+9G>A	ABCC6	Single nucleotide variant (intron variant)	Arterial calcification, generalized, of infancy, 2 +3 more	GBenign
Select item 2024784	NM_001171.6(ABCC6):c.4208+8C>G	ABCC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 733616	NM_001171.6(ABCC6):c.4208+8C>T	ABCC6	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1348602	NM_001171.6(ABCC6):c.4208+6G>A	ABCC6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 433353	NM_001171.6(ABCC6):c.4198G>A (p.Glu1400Lys)	ABCC6 (E1400K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 2140061	NM_001171.6(ABCC6):c.4197C>T (p.Gly1399=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1328080	NM_001171.6(ABCC6):c.4193G>A (p.Arg1398Gln)	ABCC6 (R1284Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 433352	NM_001171.6(ABCC6):c.4192C>T (p.Arg1398Ter)	ABCC6 (R1398* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic

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