ClinVar for MedGen (Select 102408) - ClinVar

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

Links from MedGen

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664905	NM_000375.3(UROS):c.660+4del	UROS	Deletion (intron variant)	Cutaneous porphyria	GUncertain significance
Select item 1266364	NM_000375.3(UROS):c.562-26C>T	UROS	Single nucleotide variant (intron variant)	Cutaneous porphyria +1 more	GBenign
Select item 1164731	NM_000375.3(UROS):c.561+19C>T	UROS	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1066786	NM_000375.3(UROS):c.7G>T (p.Val3Phe)	UROS (V3F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 880400	NM_000375.3(UROS):c.-195C>A	UROS	Single nucleotide variant (5 prime UTR variant +1 more)	Cutaneous porphyria	GUncertain significance
Select item 880399	NM_000375.3(UROS):c.-134C>A	UROS	Single nucleotide variant (5 prime UTR variant +1 more)	Cutaneous porphyria	GUncertain significance
Select item 879197	NM_000375.3(UROS):c.53C>T (p.Pro18Leu)	UROS (P18L)	Single nucleotide variant (missense variant +1 more)	Cutaneous porphyria	GUncertain significance
Select item 879196	NM_000375.3(UROS):c.106T>G (p.Leu36Val)	UROS (L36V)	Single nucleotide variant (missense variant +1 more)	Cutaneous porphyria	GUncertain significance
Select item 879195	NM_000375.3(UROS):c.169G>A (p.Gly57Arg)	UROS (G57R)	Single nucleotide variant (missense variant +1 more)	Cutaneous porphyria	GUncertain significance
Select item 878599	NM_000375.3(UROS):c.740C>T (p.Thr247Met)	UROS (T220M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 878598	NM_000375.3(UROS):c.*56T>C	UROS	Single nucleotide variant (3 prime UTR variant +1 more)	Cutaneous porphyria	GUncertain significance
Select item 878597	NM_000375.3(UROS):c.*92T>G	UROS	Single nucleotide variant (3 prime UTR variant +1 more)	Cutaneous porphyria	GUncertain significance
Select item 877640	NM_000375.3(UROS):c.-224C>T	UROS	Single nucleotide variant (5 prime UTR variant +1 more)	Cutaneous porphyria	GUncertain significance
Select item 877580	NM_000375.3(UROS):c.*96G>A	UROS	Single nucleotide variant (3 prime UTR variant +1 more)	Cutaneous porphyria	GLikely benign
Select item 713813	NM_000375.3(UROS):c.63+8G>A	UROS	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 694740	NM_000375.3(UROS):c.56A>G (p.Tyr19Cys)	UROS (Y19C)	Single nucleotide variant (missense variant +1 more)	Cutaneous porphyria	GPathogenic
Select item 299199	NM_000375.3(UROS):c.-232G>A	UROS	Single nucleotide variant (5 prime UTR variant +1 more)	Cutaneous porphyria	GUncertain significance
Select item 299198	NM_000375.3(UROS):c.-185G>A	UROS	Single nucleotide variant (5 prime UTR variant +1 more)	Cutaneous porphyria	GBenign
Select item 299197	NM_000375.3(UROS):c.-136C>T	UROS	Single nucleotide variant (5 prime UTR variant +1 more)	Cutaneous porphyria	GBenign
Select item 299196	NM_000375.3(UROS):c.-31G>T	UROS	Single nucleotide variant (5 prime UTR variant +1 more)	Cutaneous porphyria	GLikely benign
Select item 299195	NM_000375.3(UROS):c.-27+10G>A	UROS	Single nucleotide variant (intron variant)	Cutaneous porphyria	GLikely benign
Select item 299194	NM_000375.3(UROS):c.27G>A (p.Ala9=)	UROS	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 299193	NM_000375.3(UROS):c.251A>C (p.Glu84Ala)	UROS (E84A)	Single nucleotide variant (missense variant +1 more)	Cutaneous porphyria +1 more	GUncertain significance
Select item 299192	NM_000375.3(UROS):c.327A>C (p.Lys109Asn)	UROS (K109N)	Single nucleotide variant (missense variant +1 more)	Cutaneous porphyria +1 more	GUncertain significance
Select item 299191	NM_000375.3(UROS):c.338A>T (p.Asp113Val)	UROS (D113V)	Single nucleotide variant (missense variant +1 more)	Cutaneous porphyria +2 more	GBenign/Likely benign
Select item 299190	NM_000375.3(UROS):c.475+14T>A	UROS	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 299189	NM_000375.3(UROS):c.512T>C (p.Val171Ala)	UROS (V144A +1 more)	Single nucleotide variant (missense variant +1 more)	Cutaneous porphyria +1 more	GConflicting classifications of pathogenicity
Select item 299188	NM_000375.3(UROS):c.512T>G (p.Val171Gly)	UROS (V171G +1 more)	Single nucleotide variant (missense variant +1 more)	Cutaneous porphyria +1 more	GBenign
Select item 299187	NM_000375.3(UROS):c.691G>A (p.Ala231Thr)	UROS (A231T +2 more)	Single nucleotide variant (missense variant +1 more)	Cutaneous porphyria	GUncertain significance
Select item 299186	NM_000375.3(UROS):c.*24A>G	UROS	Single nucleotide variant (3 prime UTR variant +1 more)	Cutaneous porphyria	GUncertain significance
Select item 299185	NM_000375.3(UROS):c.*37G>T	UROS	Single nucleotide variant (3 prime UTR variant +1 more)	Cutaneous porphyria	GBenign
Select item 299184	NM_000375.3(UROS):c.*99A>G	UROS	Single nucleotide variant (3 prime UTR variant +1 more)	Cutaneous porphyria	GUncertain significance
Select item 299183	NM_000375.3(UROS):c.*178G>A	UROS	Single nucleotide variant (3 prime UTR variant +1 more)	Cutaneous porphyria	GUncertain significance
Select item 225268	NM_000375.3(UROS):c.-219C>A	UROS	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 65601	NM_000375.3(UROS):c.311C>T (p.Ala104Val)	UROS (A104V)	Single nucleotide variant (missense variant +1 more)	Cutaneous porphyria	Gnot provided
Select item 65600	NM_000375.3(UROS):c.139T>C (p.Ser47Pro)	UROS (S47P)	Single nucleotide variant (missense variant +1 more)	Cutaneous porphyria	Gnot provided
Select item 31943	NM_002049.4(GATA1):c.646C>T (p.Arg216Trp)	GATA1	Single nucleotide variant (missense variant)	not provided +2 more	GLikely pathogenic
Select item 30626	NM_000375.3(UROS):c.661-31T>G	UROS	Single nucleotide variant (intron variant)	Cutaneous porphyria	GPathogenic
Select item 3769	NM_000375.3(UROS):c.743C>A (p.Pro248Gln)	UROS (P248Q +2 more)	Single nucleotide variant (missense variant +1 more)	Cutaneous porphyria	GPathogenic
Select item 3768	NM_000375.3(UROS):c.395-1dup	UROS	Duplication (intron variant +1 more)	Cutaneous porphyria	GPathogenic
Select item 3767	NM_000375.3(UROS):c.63+1G>A	UROS	Single nucleotide variant (splice donor variant)	UROS-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 3766	NM_000375.3(UROS):c.673G>A (p.Gly225Ser)	UROS (G225S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 3765	NM_000375.3(UROS):c.-26-197C>A	UROS	Single nucleotide variant (intron variant)	Cutaneous porphyria	GPathogenic
Select item 3764	NM_000375.3(UROS):c.-26-193C>A	UROS	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 3763	NM_000375.3(UROS):c.-26-183G>A	UROS	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 3762	NM_000375.3(UROS):c.-203T>C	UROS	Single nucleotide variant (5 prime UTR variant +1 more)	Cutaneous porphyria	GPathogenic
Select item 3761	NM_000375.3(UROS):c.562G>T (p.Gly188Trp)	UROS (G188W +1 more)	Single nucleotide variant (missense variant +1 more)	Cutaneous porphyria	GPathogenic
Select item 3760	NM_000375.3(UROS):c.243A>T (p.Glu81Asp)	UROS (E81D)	Single nucleotide variant (missense variant +1 more)	Cutaneous porphyria	GPathogenic
Select item 3759	NM_000375.3(UROS):c.562G>A (p.Gly188Arg)	UROS (G188R +1 more)	Single nucleotide variant (missense variant +1 more)	Cutaneous porphyria	GPathogenic
Select item 3758	NM_000375.3(UROS):c.244G>T (p.Val82Phe)	UROS (V82F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3757	UROS, 80-BP INS	UROS	Insertion	Cutaneous porphyria	GPathogenic
Select item 3756	NM_000375.2(UROS):c.148_244del	UROS	Deletion	Cutaneous porphyria	GPathogenic
Select item 3755	NM_000375.3(UROS):c.10C>T (p.Leu4Phe)	UROS (L4F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 3754	NM_000375.3(UROS):c.683C>T (p.Thr228Met)	UROS (T228M +2 more)	Single nucleotide variant (missense variant +1 more)	UROS-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3753	NM_000375.3(UROS):c.184A>G (p.Thr62Ala)	UROS (T62A)	Single nucleotide variant (missense variant +1 more)	Cutaneous porphyria	GPathogenic
Select item 3752	NM_000375.3(UROS):c.197C>T (p.Ala66Val)	UROS (A66V)	Single nucleotide variant (missense variant +1 more)	Cutaneous porphyria	GPathogenic
Select item 3751	NM_000375.3(UROS):c.158C>T (p.Pro53Leu)	UROS (P53L)	Single nucleotide variant (missense variant +1 more)	Cutaneous porphyria	GPathogenic
Select item 3750	NM_000375.3(UROS):c.217T>C (p.Cys73Arg)	UROS (C73R)	Single nucleotide variant (missense variant +1 more)	Cutaneous porphyria +1 more	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 58