ClinVar for MedGen (Select 57931) - ClinVar

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Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1709963	NM_000097.7(CPOX):c.946A>T (p.Lys316Ter)	CPOX (K316*)	Single nucleotide variant (nonsense)	Hereditary coproporphyria	GLikely pathogenic
Select item 1679116	NM_000097.7(CPOX):c.700+2T>C	CPOX	Single nucleotide variant (splice donor variant)	Harderoporphyria +1 more	GLikely pathogenic
Select item 1333796	NM_000097.7(CPOX):c.348GGA[7] (p.Glu119_Glu120dup)	CPOX	Microsatellite (inframe_insertion)	Hereditary coproporphyria	GUncertain significance
Select item 1301996	NM_005689.4(ABCB6):c.1474G>A (p.Ala492Thr)	ABCB6 (A446T +1 more)	Single nucleotide variant (missense variant)	not provided +5 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)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1064042	NM_000097.7(CPOX):c.47T>G (p.Val16Gly)	CPOX, LOC129937121 (V16G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1049038	NM_000097.7(CPOX):c.178C>G (p.Arg60Gly)	CPOX, LOC129937121 (R60G)	Single nucleotide variant (missense variant)	Harderoporphyria +1 more	GUncertain significance
Select item 903583	NM_000097.7(CPOX):c.-87C>T	CPOX, LOC129937121	Single nucleotide variant (5 prime UTR variant)	Hereditary coproporphyria	GUncertain significance
Select item 903582	NM_000097.7(CPOX):c.-86C>T	CPOX, LOC129937121	Single nucleotide variant (5 prime UTR variant)	Hereditary coproporphyria	GUncertain significance
Select item 903514	NM_000097.7(CPOX):c.530C>T (p.Ser177Phe)	CPOX (S177F)	Single nucleotide variant (missense variant)	Hereditary coproporphyria	GUncertain significance
Select item 903513	NM_000097.7(CPOX):c.557-3C>T	CPOX	Single nucleotide variant (intron variant)	Hereditary coproporphyria +1 more	GConflicting classifications of pathogenicity
Select item 903512	NM_000097.7(CPOX):c.766A>G (p.Thr256Ala)	CPOX (T256A)	Single nucleotide variant (missense variant)	Hereditary coproporphyria	GBenign
Select item 903511	NM_000097.7(CPOX):c.811+14G>A	CPOX	Single nucleotide variant (intron variant)	Hereditary coproporphyria	GUncertain significance
Select item 903463	NM_000097.7(CPOX):c.*351A>G	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria	GUncertain significance
Select item 903462	NM_000097.7(CPOX):c.*516A>C	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria	GUncertain significance
Select item 903461	NM_000097.7(CPOX):c.*595C>A	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria	GBenign
Select item 902614	NM_000097.7(CPOX):c.*712T>C	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria	GUncertain significance
Select item 902613	NM_000097.7(CPOX):c.*745A>G	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria	GUncertain significance
Select item 902612	NM_000097.7(CPOX):c.*1046A>G	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria	GUncertain significance
Select item 901632	NM_000097.7(CPOX):c.-7C>G	CPOX, LOC129937121	Single nucleotide variant (5 prime UTR variant)	Hereditary coproporphyria	GUncertain significance
Select item 901579	NM_000097.7(CPOX):c.954-15C>T	CPOX	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 901578	NM_000097.7(CPOX):c.1028A>T (p.Asp343Val)	CPOX (D343V)	Single nucleotide variant (missense variant)	Hereditary coproporphyria	GLikely benign
Select item 901085	NM_000097.7(CPOX):c.212G>C (p.Gly71Ala)	CPOX, LOC129937121 (G71A)	Single nucleotide variant (missense variant)	Hereditary coproporphyria +1 more	GConflicting classifications of pathogenicity
Select item 901024	NM_000097.7(CPOX):c.1138C>G (p.Gln380Glu)	CPOX (Q380E)	Single nucleotide variant (missense variant)	Hereditary coproporphyria +1 more	GConflicting classifications of pathogenicity
Select item 901023	NM_000097.7(CPOX):c.1149G>A (p.Leu383=)	CPOX	Single nucleotide variant (synonymous variant)	CPOX-related condition +2 more	GBenign/Likely benign
Select item 901022	NM_000097.7(CPOX):c.1172+7G>A	CPOX	Single nucleotide variant (intron variant)	Hereditary coproporphyria	GLikely benign
Select item 901021	NM_000097.7(CPOX):c.1173G>T (p.Arg391=)	CPOX	Single nucleotide variant (synonymous variant)	Hereditary coproporphyria	GUncertain significance
Select item 901020	NM_000097.7(CPOX):c.1230A>G (p.Pro410=)	CPOX	Single nucleotide variant (synonymous variant)	Hereditary coproporphyria	GUncertain significance
Select item 899910	NM_000097.7(CPOX):c.458A>T (p.Glu153Val)	CPOX (E153V)	Single nucleotide variant (missense variant)	Hereditary coproporphyria	GUncertain significance
Select item 899909	NM_000097.7(CPOX):c.474G>C (p.Glu158Asp)	CPOX (E158D)	Single nucleotide variant (missense variant)	Hereditary coproporphyria	GUncertain significance
Select item 899908	NM_000097.7(CPOX):c.510A>G (p.Val170=)	CPOX	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 899848	NM_000097.7(CPOX):c.*183A>G	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria	GUncertain significance
Select item 899847	NM_000097.7(CPOX):c.*195T>C	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria	GBenign
Select item 872083	NM_000097.7(CPOX):c.520G>A (p.Ala174Thr)	CPOX (A174T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 845386	NM_000097.7(CPOX):c.601G>A (p.Glu201Lys)	CPOX (E201K)	Single nucleotide variant (missense variant)	Hereditary coproporphyria +1 more	GPathogenic/Likely pathogenic
Select item 801990	NM_000097.7(CPOX):c.478C>T (p.Gln160Ter)	CPOX (Q160*)	Single nucleotide variant (nonsense)	Hereditary coproporphyria +1 more	GPathogenic
Select item 445477	NM_005689.4(ABCB6):c.1562C>G (p.Thr521Ser)	ABCB6 (T521S +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 347001	NM_000097.7(CPOX):c.-56G>C	CPOX, LOC129937121	Single nucleotide variant (5 prime UTR variant)	Hereditary coproporphyria	GBenign
Select item 347000	NM_000097.7(CPOX):c.-55G>C	CPOX, LOC129937121	Single nucleotide variant (5 prime UTR variant)	Hereditary coproporphyria	GBenign
Select item 346999	NM_000097.7(CPOX):c.-54C>T	CPOX, LOC129937121	Single nucleotide variant (5 prime UTR variant)	Hereditary coproporphyria	GBenign
Select item 346998	NM_000097.7(CPOX):c.-43G>C	CPOX, LOC129937121	Single nucleotide variant (5 prime UTR variant)	Hereditary coproporphyria	GUncertain significance
Select item 346997	NM_000097.7(CPOX):c.-10G>A	CPOX, LOC129937121	Single nucleotide variant (5 prime UTR variant)	Hereditary coproporphyria	GUncertain significance
Select item 346996	NM_000097.7(CPOX):c.33C>T (p.Gly11=)	CPOX, LOC129937121	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 346995	NM_000097.7(CPOX):c.86A>C (p.Gln29Pro)	CPOX, LOC129937121 (Q29P)	Single nucleotide variant (missense variant)	Hereditary coproporphyria	GUncertain significance
Select item 346994	NM_000097.7(CPOX):c.125G>C (p.Ser42Thr)	CPOX, LOC129937121 (S42T)	Single nucleotide variant (missense variant)	Hereditary coproporphyria	GUncertain significance
Select item 346993	NM_000097.7(CPOX):c.130G>T (p.Ala44Ser)	CPOX, LOC129937121 (A44S)	Single nucleotide variant (missense variant)	Hereditary coproporphyria	GUncertain significance
Select item 346992	NM_000097.7(CPOX):c.156C>G (p.Gly52=)	CPOX, LOC129937121	Single nucleotide variant (synonymous variant)	CPOX-related condition +1 more	GConflicting classifications of pathogenicity
Select item 346991	NM_000097.7(CPOX):c.165C>T (p.Gly55=)	CPOX, LOC129937121	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 346990	NM_000097.7(CPOX):c.167C>T (p.Thr56Met)	CPOX, LOC129937121 (T56M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 346989	NM_000097.7(CPOX):c.252G>A (p.Gly84=)	CPOX, LOC129937121	Single nucleotide variant (synonymous variant)	CPOX-related condition +2 more	GBenign
Select item 346988	NM_000097.7(CPOX):c.284A>G (p.His95Arg)	CPOX, LOC129937121 (H95R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 346987	NM_000097.7(CPOX):c.299A>T (p.Glu100Val)	CPOX, LOC129937121 (E100V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 346986	NM_000097.7(CPOX):c.337C>T (p.Leu113=)	CPOX, LOC129937121	Single nucleotide variant (synonymous variant)	CPOX-related condition +2 more	GBenign
Select item 346985	NM_000097.7(CPOX):c.348G>C (p.Pro116=)	CPOX, LOC129937121	Single nucleotide variant (synonymous variant)	CPOX-related condition +1 more	GConflicting classifications of pathogenicity
Select item 346984	NM_000097.7(CPOX):c.395C>T (p.Ala132Val)	CPOX (A132V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 346983	NM_000097.7(CPOX):c.487G>T (p.Val163Leu)	CPOX (V163L)	Single nucleotide variant (missense variant)	Hereditary coproporphyria +2 more	GConflicting classifications of pathogenicity
Select item 346982	NM_000097.7(CPOX):c.556+9G>A	CPOX	Single nucleotide variant (intron variant)	Hereditary coproporphyria +1 more	GBenign
Select item 346981	NM_000097.7(CPOX):c.612G>A (p.Gly204=)	CPOX	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 346980	NM_000097.7(CPOX):c.651A>G (p.Glu217=)	CPOX	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 346979	NM_000097.7(CPOX):c.814A>C (p.Asn272His)	CPOX (N272H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 346978	NM_000097.7(CPOX):c.880G>A (p.Val294Ile)	CPOX (V294I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 346977	NM_000097.7(CPOX):c.990A>G (p.Glu330=)	CPOX	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 346976	NM_000097.7(CPOX):c.1054C>T (p.Arg352Cys)	CPOX (R352C)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 346975	NM_000097.7(CPOX):c.1108A>G (p.Lys370Glu)	CPOX (K370E)	Single nucleotide variant (missense variant)	Hereditary coproporphyria	GBenign
Select item 346974	NM_000097.7(CPOX):c.1172+14A>G	CPOX	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 346973	NM_000097.7(CPOX):c.1266T>A (p.Pro422=)	CPOX	Single nucleotide variant (synonymous variant)	Hereditary coproporphyria +1 more	GLikely benign
Select item 346972	NM_000097.7(CPOX):c.*28del	CPOX	Deletion (3 prime UTR variant)	Hereditary coproporphyria	GLikely benign
Select item 346971	NM_000097.7(CPOX):c.*66G>A	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria	GUncertain significance
Select item 346970	NM_000097.7(CPOX):c.*73T>C	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria	GBenign
Select item 346969	NM_000097.7(CPOX):c.*95G>A	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria	GBenign
Select item 346968	NM_000097.7(CPOX):c.*136G>C	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria	GBenign
Select item 346967	NM_000097.7(CPOX):c.*162A>C	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria +1 more	GBenign
Select item 346966	NM_000097.7(CPOX):c.*194G>T	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria	GUncertain significance
Select item 346965	NM_000097.7(CPOX):c.*227G>A	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria	GBenign
Select item 346964	NM_000097.7(CPOX):c.*329G>C	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria	GBenign
Select item 346963	NM_000097.7(CPOX):c.*340A>G	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria	GUncertain significance
Select item 346962	NM_000097.7(CPOX):c.*381C>T	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria	GBenign
Select item 346961	NM_000097.7(CPOX):c.*475T>A	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria	GBenign
Select item 346960	NM_000097.7(CPOX):c.498_499insCA	CPOX	Insertion (3 prime UTR variant)	Hereditary coproporphyria	GUncertain significance
Select item 346959	NM_000097.7(CPOX):c.*506C>T	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria	GUncertain significance
Select item 346958	NM_000097.7(CPOX):c.578_579insTTCTTA	CPOX	Insertion (3 prime UTR variant)	Hereditary coproporphyria	GBenign
Select item 346957	NM_000097.7(CPOX):c.*633A>C	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria	GUncertain significance
Select item 346956	NM_000097.7(CPOX):c.*679G>A	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria	GBenign
Select item 346955	NM_000097.7(CPOX):c.*927G>A	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria	GBenign
Select item 346954	NM_000097.7(CPOX):c.*939A>G	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria	GUncertain significance
Select item 346953	NM_000097.7(CPOX):c.*1072C>T	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria	GBenign
Select item 346952	NM_000097.7(CPOX):c.*1076G>A	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria	GUncertain significance
Select item 346951	NM_000097.7(CPOX):c.*1105A>G	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria	GBenign
Select item 346950	NM_000097.7(CPOX):c.*1153G>C	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria	GUncertain significance
Select item 346949	NM_000097.7(CPOX):c.*1174G>A	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria	GUncertain significance
Select item 235291	NM_005689.4(ABCB6):c.826C>T (p.Arg276Trp)	ABCB6 (R276W +1 more)	Single nucleotide variant (missense variant)	Hereditary coproporphyria +4 more	GBenign
Select item 217872	NM_005689.4(ABCB6):c.574C>T (p.Arg192Trp)	ABCB6 (R192W)	Single nucleotide variant (missense variant +1 more)	Hereditary coproporphyria +4 more	GBenign/Likely benign
Select item 459	NM_000097.7(CPOX):c.1339C>T (p.Arg447Cys)	CPOX (R447C)	Single nucleotide variant (missense variant)	Hereditary coproporphyria +1 more	GConflicting classifications of pathogenicity
Select item 453	NM_000097.7(CPOX):c.1210A>G (p.Lys404Glu)	CPOX (K404E)	Single nucleotide variant (missense variant)	Harderoporphyria +2 more	GPathogenic/Likely pathogenic
Select item 451	NM_000097.7(CPOX):c.991C>T (p.Arg331Trp)	CPOX (R331W)	Single nucleotide variant (missense variant)	Hereditary coproporphyria	GUncertain significance

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Items: 95