ClinVar for MedGen (Select 58118) - ClinVar

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

Links from MedGen

Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362804	NM_001122764.3(PPOX):c.313dup (p.Leu105fs)	PPOX (L105fs +1 more)	Duplication (frameshift variant +2 more)	Variegate porphyria	GLikely pathogenic
Select item 3362540	NM_001122764.3(PPOX):c.1108_1119del (p.Gly370_Trp373del)	PPOX	Deletion	Variegate porphyria	GUncertain significance
Select item 3067865	NM_001122764.3(PPOX):c.87+1G>A	PPOX	Single nucleotide variant (splice donor variant)	Variegate porphyria	GLikely pathogenic
Select item 2665040	NM_001122764.3(PPOX):c.688C>T (p.Arg230Cys)	PPOX (R197C +3 more)	Single nucleotide variant (missense variant)	Variegate porphyria	GUncertain significance
Select item 2500825	NM_001122764.3(PPOX):c.420del (p.Glu141fs)	B4GALT3, PPOX +1 more (E141fs)	Deletion (frameshift variant +2 more)	Variegate porphyria	GPathogenic
Select item 1804982	NM_001122764.3(PPOX):c.491A>G (p.Asp164Gly)	PPOX (D131G +3 more)	Single nucleotide variant (missense variant)	Variegate porphyria	GUncertain significance
Select item 1704297	NM_001122764.3(PPOX):c.338G>C (p.Arg113Thr)	PPOX (R113T +1 more)	Single nucleotide variant (missense variant +2 more)	Variegate porphyria	GPathogenic
Select item 1668855	NM_001122764.3(PPOX):c.1296A>G (p.Ser432=)	PPOX	Single nucleotide variant (synonymous variant)	Variegate porphyria +1 more	GConflicting classifications of pathogenicity
Select item 1301996	NM_005689.4(ABCB6):c.1474G>A (p.Ala492Thr)	ABCB6 (A446T +1 more)	Single nucleotide variant (missense variant)	Acute intermittent porphyria +4 more	GBenign/Likely benign
Select item 1284646	NM_005689.4(ABCB6):c.1762G>A (p.Gly588Ser)	ABCB6 (G542S +1 more)	Single nucleotide variant (missense variant)	Hereditary coproporphyria +4 more	GConflicting classifications of pathogenicity
Select item 1065637	NM_000410.4(HFE):c.1006+1G>A	HFE	Single nucleotide variant (splice donor variant)	Alzheimer disease type 1 +7 more	GPathogenic/Likely pathogenic
Select item 976468	NM_001122764.3(PPOX):c.1291+1G>T	PPOX	Single nucleotide variant (splice donor variant)	Variegate porphyria	GLikely pathogenic
Select item 915371	NM_001122764.3(PPOX):c.1072G>A (p.Gly358Arg)	PPOX (G325R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 906791	NM_000410.4(HFE):c.*603C>T	HFE	Single nucleotide variant (3 prime UTR variant)	Microvascular complications of diabetes, susceptibility to, 7 +6 more	GUncertain significance
Select item 904398	NM_000410.4(HFE):c.*198C>T	HFE	Single nucleotide variant (3 prime UTR variant)	Variegate porphyria +5 more	GUncertain significance
Select item 877039	NM_001122764.3(PPOX):c.-211C>A	PPOX	Single nucleotide variant (5 prime UTR variant)	Variegate porphyria	GUncertain significance
Select item 876148	NM_001122764.3(PPOX):c.1318C>T (p.His440Tyr)	PPOX (H407Y +4 more)	Single nucleotide variant (missense variant)	Variegate porphyria	GUncertain significance
Select item 876147	NM_001122764.3(PPOX):c.1220C>T (p.Pro407Leu)	PPOX (P245L +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 875181	NM_001122764.3(PPOX):c.844G>A (p.Val282Ile)	PPOX (V282I +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 875180	NM_001122764.3(PPOX):c.649C>T (p.Arg217Cys)	PPOX (R55C +3 more)	Single nucleotide variant (missense variant)	Variegate porphyria	GUncertain significance
Select item 875179	NM_001122764.3(PPOX):c.597G>T (p.Leu199=)	PPOX	Single nucleotide variant (synonymous variant)	Variegate porphyria	GUncertain significance
Select item 874257	NM_001122764.3(PPOX):c.559C>T (p.Leu187Phe)	PPOX (L154F +3 more)	Single nucleotide variant (missense variant)	Variegate porphyria	GUncertain significance
Select item 874256	NM_001122764.3(PPOX):c.349C>T (p.Arg117Cys)	PPOX (R117C)	Single nucleotide variant (missense variant +2 more)	Variegate porphyria	GUncertain significance
Select item 785941	NM_001122764.3(PPOX):c.1206A>C (p.Gly402=)	PPOX	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 664759	NM_001122764.3(PPOX):c.745dup (p.Val249fs)	PPOX (V216fs +3 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 632481	NM_000410.4(HFE):c.676C>T (p.Arg226Trp)	HFE (R226W +8 more)	Single nucleotide variant (missense variant +1 more)	Hemochromatosis type 1 +5 more	GUncertain significance
Select item 623210	NM_001122764.3(PPOX):c.869-3_869-2del	PPOX	Deletion (splice acceptor variant)	Variegate porphyria	GLikely pathogenic
Select item 559476	Single allele		Deletion	Variegate porphyria +3 more	GPathogenic
Select item 461194	NM_000410.4(HFE):c.766G>A (p.Val256Ile)	HFE (V256I +8 more)	Single nucleotide variant (missense variant +1 more)	Hemochromatosis type 1 +6 more	GUncertain significance
Select item 445477	NM_005689.4(ABCB6):c.1562C>G (p.Thr521Ser)	ABCB6 (T521S +1 more)	Single nucleotide variant (missense variant)	Acute intermittent porphyria +5 more	GBenign/Likely benign
Select item 407079	NM_000410.4(HFE):c.546_547del (p.Leu183fs)	HFE (L183fs +2 more)	Deletion (frameshift variant +1 more)	Familial porphyria cutanea tarda +6 more	GPathogenic/Likely pathogenic
Select item 293260	NM_001122764.3(PPOX):c.1303C>T (p.Gln435Ter)	PPOX (Q435* +4 more)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 293259	NM_001122764.3(PPOX):c.1248+4A>G	PPOX	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 293258	NM_001122764.3(PPOX):c.1087C>G (p.Leu363Val)	PPOX (L363V +3 more)	Single nucleotide variant (missense variant +1 more)	Variegate porphyria	GUncertain significance
Select item 293257	NM_001122764.3(PPOX):c.1062T>C (p.Pro354=)	PPOX	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 293256	NM_001122764.3(PPOX):c.936G>A (p.Val312=)	PPOX	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 293255	NM_001122764.3(PPOX):c.911G>A (p.Arg304His)	PPOX (R304H +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 293254	NM_001122764.3(PPOX):c.646A>G (p.Ile216Val)	PPOX (I216V +3 more)	Single nucleotide variant (missense variant)	Variegate porphyria	GUncertain significance
Select item 293253	NM_001122764.3(PPOX):c.617-6C>T	PPOX	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 293252	NM_001122764.3(PPOX):c.522C>T (p.Asn174=)	PPOX	Single nucleotide variant (synonymous variant)	Variegate porphyria	GUncertain significance
Select item 293251	NM_001122764.3(PPOX):c.471+3G>A	PPOX	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 293250	NM_001122764.3(PPOX):c.360C>T (p.Pro120=)	PPOX	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 293249	NM_001122764.3(PPOX):c.338+9A>G	PPOX	Single nucleotide variant (intron variant)	Variegate porphyria	GUncertain significance
Select item 293248	NM_001122764.3(PPOX):c.87+13C>T	PPOX	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 293247	NM_001122764.3(PPOX):c.69G>T (p.Arg23=)	PPOX	Single nucleotide variant (synonymous variant +1 more)	Variegate porphyria	GUncertain significance
Select item 293246	NM_001122764.3(PPOX):c.-1C>T	PPOX	Single nucleotide variant (5 prime UTR variant)	Variegate porphyria	GUncertain significance
Select item 293245	NM_001122764.3(PPOX):c.-2G>T	PPOX	Single nucleotide variant (5 prime UTR variant)	Variegate porphyria	GUncertain significance
Select item 293244	NM_001122764.3(PPOX):c.-128C>G	PPOX	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 293243	NM_001122764.3(PPOX):c.-149G>T	PPOX	Single nucleotide variant (5 prime UTR variant)	Variegate porphyria	GUncertain significance
Select item 293242	NM_001122764.3(PPOX):c.-151G>T	PPOX	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GLikely benign
Select item 293241	NM_001122764.3(PPOX):c.-174A>G	PPOX	Single nucleotide variant (5 prime UTR variant)	Variegate porphyria	GUncertain significance
Select item 293240	NM_001122764.3(PPOX):c.-180T>C	PPOX	Single nucleotide variant (5 prime UTR variant)	Variegate porphyria	GUncertain significance
Select item 293239	NM_001122764.3(PPOX):c.-246G>T	PPOX	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 293238	NM_001122764.3(PPOX):c.-247C>A	PPOX	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 293237	NM_001122764.3(PPOX):c.-251G>C	PPOX	Single nucleotide variant (5 prime UTR variant)	Variegate porphyria	GUncertain significance
Select item 235291	NM_005689.4(ABCB6):c.826C>T (p.Arg276Trp)	ABCB6 (R276W +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 222651	NM_000410.4(HFE):c.502G>C (p.Glu168Gln)	HFE (E168Q +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary hemochromatosis +7 more	GUncertain significance
Select item 217872	NM_005689.4(ABCB6):c.574C>T (p.Arg192Trp)	ABCB6 (R192W)	Single nucleotide variant (missense variant +1 more)	Variegate porphyria +4 more	GBenign/Likely benign
Select item 216425	NM_000410.4(HFE):c.18G>C (p.Arg6Ser)	HFE-AS1, HFE (R6S)	Single nucleotide variant (non-coding transcript variant +1 more)	Alzheimer disease type 1 +7 more	GUncertain significance
Select item 189241	NM_001122764.3(PPOX):c.199del (p.Ala66_Leu67insTer)	PPOX	Deletion (nonsense +1 more)	Variegate porphyria +1 more	GPathogenic/Likely pathogenic
Select item 68473	NM_005689.4(ABCB6):c.575G>A (p.Arg192Gln)	ABCB6 (R192Q)	Single nucleotide variant (missense variant +1 more)	Protoporphyria, erythropoietic, 1 +3 more	GBenign/Likely benign
Select item 8704	NM_001122764.3(PPOX):c.767C>G (p.Pro256Arg)	PPOX (P256R +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 8703	NM_001122764.3(PPOX):c.35T>C (p.Ile12Thr)	PPOX (I12T)	Single nucleotide variant (missense variant +1 more)	Variegate porphyria +1 more	GPathogenic
Select item 8702	PPOX, IVS11DS, G-A, -1	PPOX	Single nucleotide variant	Variegate porphyria +1 more	GPathogenic
Select item 8700	NM_001122764.3(PPOX):c.1241_1245del (p.Leu414fs)	PPOX (L252fs +4 more)	Deletion (frameshift variant)	Variegate porphyria	GPathogenic
Select item 8699	NM_001122764.3(PPOX):c.538_539del (p.Ile180fs)	PPOX (I44fs +3 more)	Deletion (frameshift variant)	Variegate porphyria	GPathogenic
Select item 8697	NM_001122764.3(PPOX):c.503G>A (p.Arg168His)	PPOX (R168H +3 more)	Single nucleotide variant (missense variant)	See cases +2 more	GPathogenic/Likely pathogenic
Select item 8696	NM_001122764.3(PPOX):c.175C>T (p.Arg59Trp)	PPOX (R59W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 8695	NM_001122764.3(PPOX):c.59A>C (p.His20Pro)	PPOX (H20P)	Single nucleotide variant (missense variant +1 more)	Variegate porphyria	GPathogenic
Select item 8694	NM_001122764.3(PPOX):c.502C>T (p.Arg168Cys)	PPOX (R168C +3 more)	Single nucleotide variant (missense variant)	Variegate porphyria, childhood-onset +1 more	GPathogenic/Likely pathogenic
Select item 8693	NM_001122764.3(PPOX):c.694G>C (p.Gly232Arg)	PPOX (G232R +3 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 11	NM_000410.4(HFE):c.193A>T (p.Ser65Cys)	HFE, HFE-AS1 (S65C +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 10	NM_000410.4(HFE):c.187C>G (p.His63Asp)	HFE, HFE-AS1 (H63D +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +9 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance; other
Select item 9	NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)	HFE (C282Y +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +19 more	GPathogenic/Pathogenic, low penetrance; other; risk factor

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: 74