ClinVar (all) for Orgtrack (Select 500195) - ClinVar - NCBI

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	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 433526	NM_001171.6(ABCC6):c.4254del (p.Lys1419fs)	ABCC6 (K1305fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 433525	NM_001171.6(ABCC6):c.3370T>C (p.Cys1124Arg)	ABCC6 (C1124R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
Select item 433524	NM_001171.6(ABCC6):c.2974G>A (p.Gly992Arg)	ABCC6 (G992R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 433523	NM_001171.6(ABCC6):c.2678C>G (p.Ser893Ter)	ABCC6 (S893* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 433522	NM_001171.6(ABCC6):c.2306G>A (p.Arg769Lys)	ABCC6 (R769K +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +3 more	GBenign/Likely benign
Select item 433521	NM_001171.6(ABCC6):c.2230A>C (p.Thr744Pro)	ABCC6 (T744P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 433520	NM_001171.6(ABCC6):c.2170_2173del (p.Arg724fs)	ABCC6 (R610fs +1 more)	Microsatellite (frameshift variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GLikely pathogenic
Select item 433519	NM_001171.6(ABCC6):c.1781C>T (p.Ala594Val)	ABCC6 (A594V +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GLikely pathogenic
Select item 433518	NM_001171.6(ABCC6):c.1519del (p.Glu507fs)	ABCC6 (E393fs +1 more)	Deletion (frameshift variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GLikely pathogenic
Select item 433517	NM_001171.6(ABCC6):c.2387T>C (p.Ile796Thr)	ABCC6 (I796T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 433515	NM_001171.6(ABCC6):c.3876_3882+1del	ABCC6	Deletion (splice donor variant)	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 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 433512	NM_001171.6(ABCC6):c.3306+5G>C	ABCC6	Single nucleotide variant (intron variant)	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
Select item 433511	NM_001171.6(ABCC6):c.1635+1G>T	ABCC6	Single nucleotide variant (splice donor variant)	Autosomal recessive inherited pseudoxanthoma elasticum	GLikely pathogenic
Select item 433510	NM_001171.6(ABCC6):c.3032T>C (p.Leu1011Pro)	ABCC6 (L1011P +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
Select item 433509	NM_001171.6(ABCC6):c.2911T>C (p.Trp971Arg)	ABCC6 (W971R +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
Select item 433507	NM_001171.6(ABCC6):c.118C>T (p.Pro40Ser)	ABCC6 (P40S)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
Select item 433506	NM_001171.6(ABCC6):c.268G>A (p.Ala90Thr)	ABCC6 (A90T)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
Select item 433505	NM_001171.6(ABCC6):c.26C>A (p.Ala9Glu)	ABCC6 (A9E)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
Select item 433504	NM_001171.6(ABCC6):c.191G>A (p.Arg64Gln)	ABCC6 (R64Q)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive inherited pseudoxanthoma elasticum +3 more	GUncertain significance
Select item 433503	NM_001171.6(ABCC6):c.61C>T (p.Pro21Ser)	ABCC6 (P21S)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
Select item 433502	NM_001171.6(ABCC6):c.2501T>C (p.Met834Thr)	ABCC6 (M834T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 433501	NM_001171.6(ABCC6):c.2126A>G (p.Glu709Gly)	ABCC6 (E709G +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
Select item 433500	NM_001171.6(ABCC6):c.2843T>C (p.Leu948Pro)	ABCC6 (L948P +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
Select item 433499	NM_001171.6(ABCC6):c.11C>A (p.Pro4His)	ABCC6 (P4H)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
Select item 433498	NM_001171.6(ABCC6):c.1814T>C (p.Leu605Pro)	ABCC6 (L605P +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
Select item 433497	NM_001171.6(ABCC6):c.2784C>T (p.Gly928=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
Select item 433496	NM_001171.6(ABCC6):c.1944-1G>C	ABCC6	Single nucleotide variant (splice acceptor variant)	Autosomal recessive inherited pseudoxanthoma elasticum	GLikely pathogenic
Select item 433495	NM_001171.6(ABCC6):c.3475A>G (p.Arg1159Gly)	ABCC6 (R1159G +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
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 433493	NM_001171.6(ABCC6):c.3816_3828dup (p.Glu1277delinsLysIleProThrTer)	ABCC6	Duplication (nonsense +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GLikely pathogenic
Select item 433492	NM_001171.6(ABCC6):c.36+1G>T	ABCC6	Single nucleotide variant (splice donor variant)	Autosomal recessive inherited pseudoxanthoma elasticum	GLikely pathogenic
Select item 433491	NM_001171.6(ABCC6):c.1526C>G (p.Ala509Gly)	ABCC6 (A509G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 433489	NM_001171.6(ABCC6):c.2432C>G (p.Thr811Arg)	ABCC6 (T811R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive inherited pseudoxanthoma elasticum	GPathogenic
Select item 433488	NM_001171.6(ABCC6):c.1589T>C (p.Leu530Pro)	ABCC6 (L530P +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
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 433486	NM_001171.6(ABCC6):c.1799G>T (p.Arg600Leu)	ABCC6 (R600L +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
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 433484	NM_001171.6(ABCC6):c.2659C>T (p.Arg887Cys)	ABCC6 (R887C +1 more)	Single nucleotide variant (missense variant +1 more)	Arterial calcification, generalized, of infancy, 2 +3 more	GBenign/Likely benign
Select item 433483	NM_001171.6(ABCC6):c.1565T>C (p.Leu522Pro)	ABCC6 (L522P +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +2 more	GUncertain significance
Select item 433482	NM_001171.6(ABCC6):c.1179_1338+2del	ABCC6	Deletion (splice acceptor variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GLikely pathogenic
Select item 433481	NM_001171.6(ABCC6):c.46C>T (p.Gln16Ter)	ABCC6 (Q16*)	Single nucleotide variant (nonsense +2 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GLikely pathogenic
Select item 433480	NM_001171.6(ABCC6):c.2383del (p.Val795fs)	ABCC6 (V681fs +1 more)	Deletion (frameshift variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GLikely pathogenic
Select item 433479	NM_001171.6(ABCC6):c.1978del (p.Ala660fs)	ABCC6 (A546fs +1 more)	Deletion (frameshift variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GLikely pathogenic
Select item 433478	NM_001171.6(ABCC6):c.3633+1G>A	ABCC6	Single nucleotide variant (splice donor variant)	Autosomal recessive inherited pseudoxanthoma elasticum	GLikely pathogenic
Select item 433477	NM_001171.6(ABCC6):c.1780-2A>G	ABCC6	Single nucleotide variant (splice acceptor variant)	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
Select item 433476	NM_001171.6(ABCC6):c.3119C>T (p.Pro1040Leu)	ABCC6 (P1040L +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	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)	Autosomal recessive inherited pseudoxanthoma elasticum +3 more	GUncertain significance
Select item 433474	NM_001171.6(ABCC6):c.333dup (p.Leu112fs)	ABCC6 (L112fs)	Duplication (frameshift variant +2 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GLikely pathogenic
Select item 433473	NM_001171.6(ABCC6):c.1465C>T (p.Arg489Trp)	ABCC6 (R489W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 433472	NM_001171.6(ABCC6):c.3208G>C (p.Ala1070Pro)	ABCC6 (A1070P +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
Select item 433471	NM_001171.6(ABCC6):c.280del (p.Ile94fs)	ABCC6 (I94fs)	Deletion (frameshift variant +2 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GLikely pathogenic
Select item 433470	NM_001171.6(ABCC6):c.2419C>G (p.Arg807Gly)	ABCC6 (R807G +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
Select item 433469	NM_001171.6(ABCC6):c.2488G>C (p.Ala830Pro)	ABCC6 (A830P +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
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 433467	NM_001171.6(ABCC6):c.1133A>C (p.Gln378Pro)	ABCC6 (Q378P +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
Select item 433466	NM_001171.6(ABCC6):c.766T>C (p.Trp256Arg)	ABCC6 (W256R +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
Select item 433465	NM_001171.6(ABCC6):c.333G>A (p.Trp111Ter)	ABCC6 (W111*)	Single nucleotide variant (nonsense +2 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GLikely pathogenic
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 433463	NM_001171.6(ABCC6):c.1734_1742delinsG (p.Asn578fs)	ABCC6 (N464fs +1 more)	Indel (frameshift variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GLikely pathogenic
Select item 433462	NM_001171.6(ABCC6):c.600+1G>A	ABCC6	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
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 433460	NM_001171.6(ABCC6):c.2125G>A (p.Glu709Lys)	ABCC6 (E709K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 433459	NM_001171.6(ABCC6):c.962del (p.Ser321fs)	ABCC6 (S207fs +1 more)	Deletion (frameshift variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GLikely pathogenic
Select item 433458	NM_001171.6(ABCC6):c.601-2A>G	ABCC6	Single nucleotide variant (splice acceptor variant)	Autosomal recessive inherited pseudoxanthoma elasticum	GLikely pathogenic
Select item 433457	NM_001171.6(ABCC6):c.3124G>A (p.Gly1042Ser)	ABCC6 (G1042S +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
Select item 433456	NM_001171.6(ABCC6):c.713C>A (p.Ser238Ter)	ABCC6 (S238* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GLikely pathogenic
Select item 433455	NM_001171.6(ABCC6):c.1712_1713del (p.Leu571fs)	ABCC6 (L457fs +1 more)	Microsatellite (frameshift variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GLikely pathogenic
Select item 433454	NM_001171.6(ABCC6):c.2125G>T (p.Glu709Ter)	ABCC6 (E709* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	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 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 433451	NM_001171.5(ABCC6):c.3307-?_3735+?del	ABCC6	Deletion	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
Select item 433450	NM_001171.6(ABCC6):c.2153A>G (p.Asp718Gly)	ABCC6 (D718G +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GPathogenic
Select item 433449	NM_001171.6(ABCC6):c.130C>G (p.Leu44Val)	ABCC6 (L44V)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive inherited pseudoxanthoma elasticum +2 more	GUncertain significance
Select item 433448	NM_001171.6(ABCC6):c.1519G>T (p.Glu507Ter)	ABCC6 (E507* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GLikely pathogenic
Select item 433447	NM_001171.6(ABCC6):c.1892_1943+26del	ABCC6	Deletion (splice donor variant)	Autosomal recessive inherited pseudoxanthoma elasticum	GLikely pathogenic
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 433445	NM_001171.6(ABCC6):c.1987G>A (p.Gly663Ser)	ABCC6 (G663S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 433444	NM_001171.6(ABCC6):c.2784_2787del (p.Gly928_Arg929insTer)	ABCC6	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 433443	NM_001171.6(ABCC6):c.37-21_37-12del	ABCC6	Deletion (intron variant)	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
Select item 433442	NM_001171.5(ABCC6):c.2996-1724_4209-478del	ABCC6	Deletion	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
Select item 433441	NM_001171.6(ABCC6):c.232G>A (p.Ala78Thr)	ABCC6 (A78T)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GUncertain significance
Select item 433440	NM_001171.5(ABCC6):c.3307-?_3882+?del	ABCC6	Deletion	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
Select item 433438	NM_001171.6(ABCC6):c.2416-1_2416del	ABCC6	Deletion (splice acceptor variant)	Autosomal recessive inherited pseudoxanthoma elasticum	GLikely pathogenic
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 433436	NM_001171.6(ABCC6):c.708_709dup (p.Trp237fs)	ABCC6 (W123fs +1 more)	Microsatellite (frameshift variant +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 (non-coding transcript variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +3 more	GConflicting classifications of pathogenicity
Select item 433434	NM_001171.6(ABCC6):c.2943G>T (p.Gln981His)	ABCC6 (Q981H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 433433	NM_001171.6(ABCC6):c.2379C>G (p.Asn793Lys)	ABCC6 (N793K +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
Select item 433432	NM_001171.6(ABCC6):c.2293C>T (p.Arg765Trp)	ABCC6 (R765W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 433431	NM_001171.6(ABCC6):c.2279G>A (p.Arg760Gln)	ABCC6 (R760Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 433430	NM_001171.6(ABCC6):c.1674del (p.Glu559fs)	ABCC6 (E559fs +1 more)	Deletion (frameshift variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 433429	NM_001171.6(ABCC6):c.1563G>C (p.Glu521Asp)	ABCC6 (E521D +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
Select item 433428	NM_001171.6(ABCC6):c.1498A>C (p.Thr500Pro)	ABCC6 (T500P +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
Select item 433427	NM_001171.6(ABCC6):c.1396A>T (p.Asn466Tyr)	ABCC6 (N466Y +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
Select item 433426	NM_001171.6(ABCC6):c.1901C>T (p.Ala634Val)	ABCC6 (A634V +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance

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