ClinVar for MedGen (Select 102408) - ClinVar

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Items: 57

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 12663641.	NM_000375.3(UROS):c.562-26C>T GRCh37: Chr10:127483573 GRCh38: Chr10:125795004	UROS		Cutaneous porphyria, not provided	Benign (Dec 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 11647312.	NM_000375.3(UROS):c.561+19C>T GRCh37: Chr10:127484653 GRCh38: Chr10:125796084	UROS		not provided, Cutaneous porphyria	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10667863.	NM_000375.3(UROS):c.7G>T (p.Val3Phe) GRCh37: Chr10:127505062 GRCh38: Chr10:125816493	UROS	V3F	not provided, Cutaneous porphyria	Likely pathogenic (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 8804004.	NM_000375.3(UROS):c.-195C>A GRCh37: Chr10:127511766 GRCh38: Chr10:125823197	UROS		Cutaneous porphyria	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8803995.	NM_000375.3(UROS):c.-134C>A GRCh37: Chr10:127511705 GRCh38: Chr10:125823136	UROS		Cutaneous porphyria	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8791976.	NM_000375.3(UROS):c.53C>T (p.Pro18Leu) GRCh37: Chr10:127505016 GRCh38: Chr10:125816447	UROS	P18L	Cutaneous porphyria	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8791967.	NM_000375.3(UROS):c.106T>G (p.Leu36Val) GRCh37: Chr10:127504787 GRCh38: Chr10:125816218	UROS	L36V	Cutaneous porphyria	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 8791958.	NM_000375.3(UROS):c.169G>A (p.Gly57Arg) GRCh37: Chr10:127503678 GRCh38: Chr10:125815109	UROS	G57R	Cutaneous porphyria	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8785999.	NM_000375.3(UROS):c.740C>T (p.Thr247Met) GRCh37: Chr10:127477495 GRCh38: Chr10:125788926	UROS	T220M, T247M, T274M	not provided, Cutaneous porphyria	Likely benign (Jun 6, 2021)	criteria provided, multiple submitters, no conflicts
Select item 87859810.	NM_000375.3(UROS):c.*56T>C GRCh37: Chr10:127477381 GRCh38: Chr10:125788812	UROS		Cutaneous porphyria	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87859711.	NM_000375.3(UROS):c.*92T>G GRCh37: Chr10:127477345 GRCh38: Chr10:125788776	UROS		Cutaneous porphyria	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87764012.	NM_000375.3(UROS):c.-224C>T GRCh37: Chr10:127511795 GRCh38: Chr10:125823226	UROS		Cutaneous porphyria	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 87758013.	NM_000375.3(UROS):c.*96G>A GRCh37: Chr10:127477341 GRCh38: Chr10:125788772	UROS		Cutaneous porphyria	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 71381314.	NM_000375.3(UROS):c.63+8G>A GRCh37: Chr10:127504998 GRCh38: Chr10:125816429	UROS		Cutaneous porphyria, not provided	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 69474015.	NM_000375.3(UROS):c.56A>G (p.Tyr19Cys) GRCh37: Chr10:127505013 GRCh38: Chr10:125816444	UROS	Y19C	Cutaneous porphyria	Pathogenic (Sep 19, 2019)	criteria provided, single submitter
Select item 29919916.	NM_000375.3(UROS):c.-232G>A GRCh37: Chr10:127511803 GRCh38: Chr10:125823234	UROS		Cutaneous porphyria	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29919817.	NM_000375.3(UROS):c.-185G>A GRCh37: Chr10:127511756 GRCh38: Chr10:125823187	UROS		Cutaneous porphyria	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 29919718.	NM_000375.3(UROS):c.-136C>T GRCh37: Chr10:127511707 GRCh38: Chr10:125823138	UROS		Cutaneous porphyria	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 29919619.	NM_000375.3(UROS):c.-31G>T GRCh37: Chr10:127511602 GRCh38: Chr10:125823033	UROS		Cutaneous porphyria	Likely benign (Apr 27, 2017)	criteria provided, single submitter
Select item 29919520.	NM_000375.3(UROS):c.-27+10G>A GRCh37: Chr10:127511588 GRCh38: Chr10:125823019	UROS		Cutaneous porphyria	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 29919421.	NM_000375.3(UROS):c.27G>A (p.Ala9=) GRCh37: Chr10:127505042 GRCh38: Chr10:125816473	UROS		not provided, Cutaneous porphyria	Benign/Likely benign (May 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 29919322.	NM_000375.3(UROS):c.251A>C (p.Glu84Ala) GRCh37: Chr10:127500851 GRCh38: Chr10:125812282	UROS	E84A	Cutaneous porphyria	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29919223.	NM_000375.3(UROS):c.327A>C (p.Lys109Asn) GRCh37: Chr10:127496049 GRCh38: Chr10:125807480	UROS	K109N	Cutaneous porphyria, not provided	Uncertain significance (Oct 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 29919124.	NM_000375.3(UROS):c.338A>T (p.Asp113Val) GRCh37: Chr10:127496038 GRCh38: Chr10:125807469	UROS	D113V	Cutaneous porphyria, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 29919025.	NM_000375.3(UROS):c.475+14T>A GRCh37: Chr10:127486620 GRCh38: Chr10:125798051	UROS		Cutaneous porphyria, not provided	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 29918926.	NM_000375.3(UROS):c.512T>C (p.Val171Ala) GRCh37: Chr10:127484721 GRCh38: Chr10:125796152	UROS	V144A, V171A	Cutaneous porphyria, not provided	Conflicting interpretations of pathogenicity (Jun 27, 2022)	criteria provided, conflicting interpretations
Select item 29918827.	NM_000375.3(UROS):c.512T>G (p.Val171Gly) GRCh37: Chr10:127484721 GRCh38: Chr10:125796152	UROS	V171G, V144G	Cutaneous porphyria, not provided	Benign (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 29918728.	NM_000375.3(UROS):c.691G>A (p.Ala231Thr) GRCh37: Chr10:127477544 GRCh38: Chr10:125788975	UROS	A231T, A258T, A204T	Cutaneous porphyria	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29918629.	NM_000375.3(UROS):c.*24A>G GRCh37: Chr10:127477413 GRCh38: Chr10:125788844	UROS		Cutaneous porphyria	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29918530.	NM_000375.3(UROS):c.*37G>T GRCh37: Chr10:127477400 GRCh38: Chr10:125788831	UROS		Cutaneous porphyria	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 29918431.	NM_000375.3(UROS):c.*99A>G GRCh37: Chr10:127477338 GRCh38: Chr10:125788769	UROS		Cutaneous porphyria	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29918332.	NM_000375.3(UROS):c.*178G>A GRCh37: Chr10:127477259 GRCh38: Chr10:125788690	UROS		Cutaneous porphyria	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 22526833.	NM_000375.3(UROS):c.-219C>A GRCh37: Chr10:127511790 GRCh38: Chr10:125823221	UROS		not specified, Cutaneous porphyria	Benign (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6560134.	NM_000375.3(UROS):c.311C>T (p.Ala104Val) GRCh37: Chr10:127500791 GRCh38: Chr10:125812222	UROS	A104V	Cutaneous porphyria	not provided	no assertion provided
Select item 6560035.	NM_000375.3(UROS):c.139T>C (p.Ser47Pro) GRCh37: Chr10:127504754 GRCh38: Chr10:125816185	UROS	S47P	Cutaneous porphyria	not provided	no assertion provided
Select item 3194336.	NM_002049.4(GATA1):c.646C>T (p.Arg216Trp) GRCh37: ChrX:48650777 GRCh38: ChrX:48792370	GATA1		not provided	Likely pathogenic (Mar 25, 2022)	criteria provided, single submitter
Select item 3062637.	NM_000375.3(UROS):c.661-31T>G GRCh37: Chr10:127477605 GRCh38: Chr10:125789036	UROS		Cutaneous porphyria	Pathogenic (Feb 4, 2010)	no assertion criteria provided
Select item 376938.	NM_000375.3(UROS):c.743C>A (p.Pro248Gln) GRCh37: Chr10:127477492 GRCh38: Chr10:125788923	UROS	P248Q, P221Q, P275Q	Cutaneous porphyria	Pathogenic (Jan 1, 1996)	no assertion criteria provided
Select item 376839.	NM_000375.3(UROS):c.395-1dup GRCh37: Chr10:127486711-127486712 GRCh38: Chr10:125798142-125798143	UROS		Cutaneous porphyria	Pathogenic (Mar 1, 2001)	no assertion criteria provided
Select item 376740.	NM_000375.3(UROS):c.63+1G>A GRCh37: Chr10:127505005 GRCh38: Chr10:125816436	UROS		not provided	Pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 376641.	NM_000375.3(UROS):c.673G>A (p.Gly225Ser) GRCh37: Chr10:127477562 GRCh38: Chr10:125788993	UROS	G225S, G198S, G252S	not provided	Pathogenic (Aug 31, 2022)	criteria provided, single submitter
Select item 376542.	NM_000375.3(UROS):c.-26-197C>A GRCh37: Chr10:127505291 GRCh38: Chr10:125816722	UROS		Cutaneous porphyria	Pathogenic (Mar 1, 2001)	no assertion criteria provided
Select item 376443.	NM_000375.3(UROS):c.-26-193C>A GRCh37: Chr10:127505287 GRCh38: Chr10:125816718	UROS		not provided	Pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 376344.	NM_000375.3(UROS):c.-26-183G>A GRCh37: Chr10:127505277 GRCh38: Chr10:125816708	UROS		not provided	Pathogenic (Sep 7, 2021)	criteria provided, single submitter
Select item 376245.	NM_000375.3(UROS):c.-203T>C GRCh37: Chr10:127511774 GRCh38: Chr10:125823205	UROS		Cutaneous porphyria	Pathogenic (Mar 1, 2001)	no assertion criteria provided
Select item 376146.	NM_000375.3(UROS):c.562G>T (p.Gly188Trp) GRCh37: Chr10:127483547 GRCh38: Chr10:125794978	UROS	G188W, G161W	Cutaneous porphyria	Pathogenic (Jun 1, 2002)	no assertion criteria provided
Select item 376047.	NM_000375.3(UROS):c.243A>T (p.Glu81Asp) GRCh37: Chr10:127503604 GRCh38: Chr10:125815035	UROS	E81D	Cutaneous porphyria	Pathogenic (Jun 1, 2002)	no assertion criteria provided
Select item 375948.	NM_000375.3(UROS):c.562G>A (p.Gly188Arg) GRCh37: Chr10:127483547 GRCh38: Chr10:125794978	UROS	G188R, G161R	Cutaneous porphyria	Pathogenic (Dec 1, 1998)	no assertion criteria provided
Select item 375849.	NM_000375.3(UROS):c.244G>T (p.Val82Phe) GRCh37: Chr10:127503603 GRCh38: Chr10:125815034	UROS	V82F	Cutaneous porphyria	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 375750.	UROS, 80-BP INS	UROS		Cutaneous porphyria	Pathogenic (Jan 1, 1992)	no assertion criteria provided
Select item 375651.	NM_000375.2(UROS):c.148_244del	UROS		Cutaneous porphyria	Pathogenic (Jan 1, 1992)	no assertion criteria provided
Select item 375552.	NM_000375.3(UROS):c.10C>T (p.Leu4Phe) GRCh37: Chr10:127505059 GRCh38: Chr10:125816490	UROS	L4F	not provided, Cutaneous porphyria	Pathogenic (Jun 26, 2023)	criteria provided, multiple submitters, no conflicts
Select item 375453.	NM_000375.3(UROS):c.683C>T (p.Thr228Met) GRCh37: Chr10:127477552 GRCh38: Chr10:125788983	UROS	T228M, T201M, T255M	not provided, Cutaneous porphyria	Conflicting interpretations of pathogenicity (Sep 7, 2022)	criteria provided, conflicting interpretations
Select item 375354.	NM_000375.3(UROS):c.184A>G (p.Thr62Ala) GRCh37: Chr10:127503663 GRCh38: Chr10:125815094	UROS	T62A	Cutaneous porphyria	Pathogenic (May 29, 2019)	no assertion criteria provided
Select item 375255.	NM_000375.3(UROS):c.197C>T (p.Ala66Val) GRCh37: Chr10:127503650 GRCh38: Chr10:125815081	UROS	A66V	Cutaneous porphyria	Pathogenic (Feb 1, 1992)	no assertion criteria provided
Select item 375156.	NM_000375.3(UROS):c.158C>T (p.Pro53Leu) GRCh37: Chr10:127503689 GRCh38: Chr10:125815120	UROS	P53L	Cutaneous porphyria	Pathogenic (May 1, 1990)	no assertion criteria provided
Select item 375057.	NM_000375.3(UROS):c.217T>C (p.Cys73Arg) GRCh37: Chr10:127503630 GRCh38: Chr10:125815061	UROS	C73R	not provided, Cutaneous porphyria	Pathogenic (Sep 2, 2022)	criteria provided, multiple submitters, no conflicts

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Items: 57