"PXE International"[submitter] AND "ABCC6"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 370

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 444012	NC_000016.10:g.(?_15788690)_(16185034_?)del	LOC121587532, LOC125146420 +7 more	Deletion	Autosomal recessive inherited pseudoxanthoma elasticum	GPathogenic
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 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 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 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 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 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 433397	NM_001171.6(ABCC6):c.4403+11C>G	ABCC6, LOC125146421	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 433516	NM_001171.6(ABCC6):c.4403+1G>T	ABCC6, LOC125146421	Single nucleotide variant (splice donor variant)	Autosomal recessive inherited pseudoxanthoma elasticum	GLikely pathogenic
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 433363	NM_001171.6(ABCC6):c.4377C>T (p.Arg1459=)	ABCC6, LOC125146421	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
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 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 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 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 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)	Autosomal recessive inherited pseudoxanthoma elasticum +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 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 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 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 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 433442	NM_001171.5(ABCC6):c.2996-1724_4209-478del	ABCC6	Deletion	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
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 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 433352	NM_001171.6(ABCC6):c.4192C>T (p.Arg1398Ter)	ABCC6 (R1398* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +1 more	GPathogenic
Select item 433437	NM_001171.6(ABCC6):c.4189G>A (p.Asp1397Asn)	ABCC6 (D1397N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 433406	NM_001171.6(ABCC6):c.4182G>A (p.Lys1394=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	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 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 419738	NM_001171.6(ABCC6):c.4081G>A (p.Asp1361Asn)	ABCC6 (D1361N +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +1 more	GConflicting classifications of pathogenicity
Select item 143119	NM_001171.6(ABCC6):c.4069C>T (p.Arg1357Trp)	ABCC6 (R1357W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 433349	NM_001171.6(ABCC6):c.4060G>C (p.Gly1354Arg)	ABCC6 (G1354R +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GPathogenic
Select item 433348	NM_001171.6(ABCC6):c.4048A>C (p.Ile1350Leu)	ABCC6 (I1350L +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
Select item 433347	NM_001171.6(ABCC6):c.4041G>C (p.Gln1347His)	ABCC6 (Q1347H +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GPathogenic
Select item 433346	NM_001171.6(ABCC6):c.4036C>T (p.Pro1346Ser)	ABCC6 (P1346S +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
Select item 433345	NM_001171.6(ABCC6):c.4025T>C (p.Ile1342Thr)	ABCC6 (I1342T +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +1 more	GConflicting classifications of pathogenicity
Select item 433344	NM_001171.6(ABCC6):c.4016G>T (p.Arg1339Leu)	ABCC6 (R1339L +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
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 6576	NM_001171.6(ABCC6):c.4015C>T (p.Arg1339Cys)	ABCC6 (R1339C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 433343	NM_001171.6(ABCC6):c.4004T>A (p.Leu1335Gln)	ABCC6 (L1335Q +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GPathogenic
Select item 433342	NM_001171.6(ABCC6):c.4004T>C (p.Leu1335Pro)	ABCC6 (L1335P +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GPathogenic
Select item 433341	NM_001171.6(ABCC6):c.3999G>A (p.Val1333=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 433340	NM_001171.6(ABCC6):c.3978C>T (p.Asp1326=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 433487	NM_001171.6(ABCC6):c.3976G>T (p.Asp1326Tyr)	ABCC6 (D1326Y +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
Select item 433339	NM_001171.6(ABCC6):c.3971G>A (p.Trp1324Ter)	ABCC6 (W1324* +1 more)	Single nucleotide variant (nonsense +1 more)	Pseudoxanthoma elasticum, forme fruste +1 more	GPathogenic
Select item 6580	NM_001171.6(ABCC6):c.3961G>A (p.Gly1321Ser)	ABCC6 (G1321S +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GLikely pathogenic
Select item 433494	NM_001171.6(ABCC6):c.3953C>G (p.Ala1318Gly)	ABCC6 (A1318G +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GLikely pathogenic
Select item 402332	NM_001171.6(ABCC6):c.3941G>A (p.Arg1314Gln)	ABCC6 (R1314Q +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +2 more	GConflicting classifications of pathogenicity
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 433338	NM_001171.6(ABCC6):c.3932G>A (p.Gly1311Glu)	ABCC6 (G1311E +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
Select item 433337	NM_001171.6(ABCC6):c.3919T>C (p.Ser1307Pro)	ABCC6 (S1307P +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GLikely pathogenic
Select item 433336	NM_001171.6(ABCC6):c.3912del (p.Lys1305fs)	ABCC6 (K1305fs +1 more)	Deletion (frameshift variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GLikely pathogenic
Select item 433335	NM_001171.6(ABCC6):c.3907G>C (p.Ala1303Pro)	ABCC6 (A1303P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 433334	NM_001171.6(ABCC6):c.3902C>T (p.Thr1301Ile)	ABCC6 (T1301I +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +1 more	GPathogenic/Likely pathogenic
Select item 433333	NM_001171.6(ABCC6):c.3895G>A (p.Gly1299Ser)	ABCC6 (G1299S +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GPathogenic
Select item 6578	NM_001171.6(ABCC6):c.3892G>T (p.Val1298Phe)	ABCC6 (V1298F +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GPathogenic
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 433468	NM_001171.6(ABCC6):c.3883-10C>G	ABCC6	Single nucleotide variant (intron variant)	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
Select item 433418	NM_001171.6(ABCC6):c.3883-24G>A	ABCC6	Single nucleotide variant (intron variant)	Pseudoxanthoma elasticum, forme fruste +3 more	GBenign
Select item 433423	NM_001171.6(ABCC6):c.3307-1006_3883-1050del	ABCC6	Deletion (splice acceptor variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
Select item 433515	NM_001171.6(ABCC6):c.3876_3882+1del	ABCC6	Deletion (splice donor variant)	Autosomal recessive inherited pseudoxanthoma elasticum	GLikely pathogenic
Select item 433231	NM_001171.6(ABCC6):c.3880_3882del (p.Lys1294del)	ABCC6 (K1294del +1 more)	Deletion (inframe_deletion +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
Select item 433332	NM_001171.6(ABCC6):c.3877G>A (p.Glu1293Lys)	ABCC6 (E1293K +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
Select item 379215	NM_001171.6(ABCC6):c.3871G>A (p.Ala1291Thr)	ABCC6 (A1291T +1 more)	Single nucleotide variant (missense variant +1 more)	Arterial calcification, generalized, of infancy, 2 +4 more	GBenign
Select item 433464	NM_001171.6(ABCC6):c.3866_3869dup (p.Ala1291fs)	ABCC6 (A1291fs +1 more)	Duplication (frameshift variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GLikely pathogenic
Select item 433413	NM_001171.6(ABCC6):c.3823_3870del (p.Arg1275_His1290del)	ABCC6	Deletion (inframe_deletion +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
Select item 433493	NM_001171.6(ABCC6):c.3816_3828dup (p.Glu1277delinsLysIleProThrTer)	ABCC6	Duplication (nonsense +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GLikely pathogenic
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 433331	NM_001171.6(ABCC6):c.3818G>A (p.Arg1273Lys)	ABCC6 (R1273K +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
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 433379	NM_001171.6(ABCC6):c.3798del (p.Glu1266fs)	ABCC6 (E1152fs +1 more)	Deletion (frameshift variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GLikely pathogenic
Select item 433461	NM_001171.6(ABCC6):c.3790C>T (p.Gln1264Ter)	ABCC6 (Q1264* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GLikely pathogenic
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 433490	NM_001171.6(ABCC6):c.3777G>A (p.Trp1259Ter)	ABCC6 (W1259* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GLikely pathogenic
Select item 433485	NM_001171.6(ABCC6):c.3775_3776insC (p.Trp1259fs)	ABCC6 (W1259fs +1 more)	Insertion (frameshift variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GPathogenic
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 6574	NM_001171.6(ABCC6):c.3736-1G>A	ABCC6	Single nucleotide variant (splice acceptor variant)	Autosomal recessive inherited pseudoxanthoma elasticum +1 more	GPathogenic
Select item 433328	NM_001171.6(ABCC6):c.3735G>A (p.Glu1245=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 433327	NM_001171.6(ABCC6):c.3735G>T (p.Glu1245Asp)	ABCC6 (E1245D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 433287	NM_001171.6(ABCC6):c.3723G>C (p.Trp1241Cys)	ABCC6 (W1241C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 433211	NM_001171.6(ABCC6):c.3722G>A (p.Trp1241Ter)	ABCC6 (W1241* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 433326	NM_001171.6(ABCC6):c.3717T>G (p.Tyr1239Ter)	ABCC6 (Y1239* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GLikely pathogenic
Select item 433325	NM_001171.6(ABCC6):c.3715T>C (p.Tyr1239His)	ABCC6 (Y1239H +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
Select item 6581	NM_001171.6(ABCC6):c.3712G>C (p.Asp1238His)	ABCC6 (D1238H +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GPathogenic/Likely pathogenic
Select item 433324	NM_001171.6(ABCC6):c.3709C>T (p.Gln1237Ter)	ABCC6 (Q1237* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GLikely pathogenic
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 433513	NM_001171.6(ABCC6):c.3692_3693insTT (p.Ser1232fs)	ABCC6 (S1118fs +1 more)	Insertion (frameshift variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GLikely pathogenic
Select item 433322	NM_001171.6(ABCC6):c.3676C>A (p.Leu1226Ile)	ABCC6 (L1226I +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
Select item 433321	NM_001171.6(ABCC6):c.3668G>A (p.Trp1223Ter)	ABCC6 (W1223* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
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

<< First< Prev

Page of 4