ClinVar for MedGen (Select 56452) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3254787	NM_000190.4(HMBS):c.9_33+11del	HMBS	Deletion (5 prime UTR variant +1 more)	Acute intermittent porphyria	GPathogenic
Select item 3068582	NM_000190.4(HMBS):c.772-2A>G	HMBS	Single nucleotide variant (splice acceptor variant)	Acute intermittent porphyria	GPathogenic
Select item 3065410	NM_000190.4(HMBS):c.413C>T (p.Pro138Leu)	HMBS (P120L +4 more)	Single nucleotide variant (missense variant)	Acute intermittent porphyria	GLikely pathogenic
Select item 2664357	NM_000190.4(HMBS):c.605dup (p.Gln204fs)	HMBS (Q187fs +1 more)	Duplication (frameshift variant)	Acute intermittent porphyria	GLikely pathogenic
Select item 2627478	NM_000190.4(HMBS):c.88-27_88-12del	HMBS	Deletion (intron variant)	Acute intermittent porphyria	GUncertain significance
Select item 2585451	NM_000190.4(HMBS):c.277_291del (p.Val93_Leu97del)	HMBS	Deletion (inframe_deletion)	Acute intermittent porphyria	GUncertain significance
Select item 2583183	NM_000190.4(HMBS):c.815del (p.Lys272fs)	HMBS (K215fs +3 more)	Deletion (frameshift variant)	Acute intermittent porphyria	GLikely pathogenic
Select item 2582784	NM_000190.4(HMBS):c.518G>C (p.Arg173Pro)	HMBS (R156P +1 more)	Single nucleotide variant (missense variant)	Acute intermittent porphyria	GPathogenic
Select item 2575055	NM_000190.4(HMBS):c.580C>T (p.Gln194Ter)	HMBS (Q177* +1 more)	Single nucleotide variant (nonsense)	Acute intermittent porphyria	GLikely pathogenic
Select item 1711186	NM_000190.4(HMBS):c.912+1G>C	HMBS	Single nucleotide variant (splice donor variant)	Acute intermittent porphyria	GPathogenic
Select item 1678604	NM_000190.4(HMBS):c.181G>T (p.Asp61Tyr)	HMBS (D44Y +1 more)	Single nucleotide variant (missense variant)	Acute intermittent porphyria	GLikely pathogenic
Select item 1421852	NM_000190.4(HMBS):c.724G>A (p.Glu242Lys)	HMBS (E225K +1 more)	Single nucleotide variant (missense variant +1 more)	Acute intermittent porphyria +1 more	GUncertain significance
Select item 1341755	NM_000190.4(HMBS):c.1063C>T (p.Arg355Trp)	HMBS (R298W +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1333920	NM_000190.4(HMBS):c.64C>T (p.Arg22Cys)	HMBS (R5C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1333909	NM_000190.4(HMBS):c.232A>T (p.Thr78Ser)	HMBS (T61S +1 more)	Single nucleotide variant (missense variant)	Acute intermittent porphyria	GUncertain significance
Select item 1303126	NM_000190.4(HMBS):c.584G>A (p.Arg195His)	HMBS (R178H +1 more)	Single nucleotide variant (missense variant)	Acute intermittent porphyria +1 more	GUncertain significance
Select item 1301997	NM_005689.4(ABCB6):c.2185G>A (p.Gly729Ser)	ABCB6 (G683S +1 more)	Single nucleotide variant (missense variant)	not provided +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)	Hereditary coproporphyria +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)	Variegate porphyria +4 more	GConflicting classifications of pathogenicity
Select item 1227694	NM_005689.4(ABCB6):c.1028G>A (p.Arg343Gln)	ABCB6 (R297Q +1 more)	Single nucleotide variant (missense variant)	Protoporphyria, erythropoietic, 1 +3 more	GBenign
Select item 1164095	NM_000190.4(HMBS):c.211-1G>T	HMBS	Single nucleotide variant (splice acceptor variant)	Acute intermittent porphyria	GPathogenic
Select item 1120222	NM_000190.4(HMBS):c.210+1G>C	HMBS	Single nucleotide variant (splice donor variant)	Acute intermittent porphyria	GPathogenic
Select item 1070048	NM_000190.4(HMBS):c.973C>T (p.Arg325Ter)	HMBS (R268* +3 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1030659	NM_000190.4(HMBS):c.826-2A>T	HMBS	Single nucleotide variant (splice acceptor variant)	HMBS-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 1030657	NM_000190.4(HMBS):c.275T>C (p.Leu92Pro)	HMBS (L75P +1 more)	Single nucleotide variant (missense variant)	Acute intermittent porphyria	GLikely pathogenic
Select item 943821	NM_000190.4(HMBS):c.186G>C (p.Lys62Asn)	HMBS (K45N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 931844	NM_000190.4(HMBS):c.13G>A (p.Gly5Ser)	HMBS (G5S)	Single nucleotide variant (missense variant +1 more)	Acute intermittent porphyria	GUncertain significance
Select item 931455	NM_000190.4(HMBS):c.613-1G>A	HMBS	Single nucleotide variant (splice acceptor variant)	Acute intermittent porphyria	GPathogenic
Select item 915842	NM_000190.4(HMBS):c.364G>C (p.Ala122Pro)	HMBS (A122P +1 more)	Single nucleotide variant (missense variant)	Acute intermittent porphyria	GLikely pathogenic
Select item 880034	NM_000190.4(HMBS):c.925C>T (p.Pro309Ser)	HMBS (P292S +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 880033	NM_000190.4(HMBS):c.889G>T (p.Ala297Ser)	HMBS (A240S +3 more)	Single nucleotide variant (missense variant)	Acute intermittent porphyria	GUncertain significance
Select item 880032	NM_000190.4(HMBS):c.885G>A (p.Met295Ile)	HMBS (M295I +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 880031	NM_000190.4(HMBS):c.798C>T (p.Ala266=)	HMBS	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 880030	NM_000190.4(HMBS):c.768C>A (p.His256Gln)	HMBS (H256Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 879665	NM_000190.4(HMBS):c.723C>G (p.Pro241=)	HMBS	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 879664	NM_000190.4(HMBS):c.654G>A (p.Gly218=)	HMBS	Single nucleotide variant (synonymous variant +1 more)	Acute intermittent porphyria	GUncertain significance
Select item 877235	NM_000190.4(HMBS):c.*153G>A	HMBS	Single nucleotide variant (3 prime UTR variant)	Acute intermittent porphyria	GUncertain significance
Select item 877234	NM_000190.4(HMBS):c.974G>A (p.Arg325Gln)	HMBS (R308Q +3 more)	Single nucleotide variant (missense variant)	Acute intermittent porphyria	GUncertain significance
Select item 851744	NM_000190.4(HMBS):c.992C>T (p.Ala331Val)	HMBS (A314V +3 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 769588	NM_005689.4(ABCB6):c.739C>T (p.Arg247Cys)	ABCB6 (R247C +1 more)	Single nucleotide variant (missense variant)	Acute intermittent porphyria +2 more	GBenign
Select item 715912	NM_000190.4(HMBS):c.134C>T (p.Ser45Leu)	HMBS (S45L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 694280	NM_000190.4(HMBS):c.160+5G>C	HMBS	Single nucleotide variant (intron variant)	Acute intermittent porphyria	GPathogenic
Select item 689731	NM_000190.4(HMBS):c.655G>T (p.Ala219Ser)	HMBS (A219S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 653427	NM_000190.4(HMBS):c.219_220del (p.Ser75fs)	HMBS (S58fs +1 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 652314	NM_000190.4(HMBS):c.612G>T (p.Gln204His)	HMBS (Q187H +1 more)	Single nucleotide variant (missense variant)	Acute intermittent porphyria +1 more	GPathogenic
Select item 652166	NM_000190.4(HMBS):c.874C>T (p.Gln292Ter)	HMBS (Q235* +3 more)	Single nucleotide variant (nonsense)	Acute intermittent porphyria +1 more	GPathogenic/Likely pathogenic
Select item 649348	NM_000190.4(HMBS):c.517C>T (p.Arg173Trp)	HMBS (R173W +1 more)	Single nucleotide variant (missense variant)	Acute intermittent porphyria +1 more	GPathogenic/Likely pathogenic
Select item 645809	NM_000190.4(HMBS):c.347G>A (p.Arg116Gln)	HMBS (R116Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 645443	NM_000190.4(HMBS):c.76C>T (p.Arg26Cys)	HMBS (R26C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 617904	NM_000190.4(HMBS):c.891dup (p.Thr298fs)	HMBS (T241fs +3 more)	Duplication (frameshift variant)	Acute intermittent porphyria	GLikely pathogenic
Select item 549662	NM_000190.4(HMBS):c.1078_*46del (p.Ala360fs)	HMBS (A303fs +3 more)	Deletion (frameshift variant)	Acute intermittent porphyria	GPathogenic
Select item 522578	NM_000190.4(HMBS):c.669_698del (p.Glu223_Leu232del)	HMBS	Deletion (inframe_deletion +1 more)	Acute intermittent porphyria	GPathogenic
Select item 510995	NM_000190.4(HMBS):c.26C>A (p.Ala9Glu)	HMBS (A9E)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 488823	NM_000190.4(HMBS):c.771G>A (p.Leu257=)	HMBS	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 452525	NM_000190.4(HMBS):c.737G>A (p.Arg246His)	HMBS (R229H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 450425	NM_000190.4(HMBS):c.160A>C (p.Ile54Leu)	HMBS (I37L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 449465	NM_000190.4(HMBS):c.104C>T (p.Thr35Met)	HMBS (T18M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 445477	NM_005689.4(ABCB6):c.1562C>G (p.Thr521Ser)	ABCB6 (T521S +1 more)	Single nucleotide variant (missense variant)	Protoporphyria, erythropoietic, 1 +5 more	GBenign/Likely benign
Select item 441069	NM_001122764.3(PPOX):c.590T>C (p.Ile197Thr)	PPOX (I197T +3 more)	Single nucleotide variant (missense variant)	Acute intermittent porphyria	Gnot provided
Select item 374953	NM_000190.4(HMBS):c.815A>C (p.Lys272Thr)	HMBS (K215T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 374084	NM_000190.4(HMBS):c.400del (p.Thr133_Leu134insTer)	HMBS	Deletion (nonsense)	Vomiting +5 more	GPathogenic
Select item 374008	NM_001098.3(ACO2):c.76C>T (p.Leu26=)	ACO2	Single nucleotide variant (synonymous variant)	Acute intermittent porphyria +6 more	GConflicting classifications of pathogenicity
Select item 372379	NM_000190.4(HMBS):c.532G>A (p.Asp178Asn)	HMBS (D161N +1 more)	Single nucleotide variant (missense variant)	Acute intermittent porphyria +1 more	GConflicting classifications of pathogenicity
Select item 368940	NM_001382.4(DPAGT1):c.*159G>A	DPAGT1, HMBS	Single nucleotide variant (3 prime UTR variant)	Acute intermittent porphyria +1 more	GConflicting classifications of pathogenicity
Select item 346979	NM_000097.7(CPOX):c.814A>C (p.Asn272His)	CPOX (N272H)	Single nucleotide variant (missense variant)	Hereditary coproporphyria +1 more	GBenign
Select item 302745	NM_001382.4(DPAGT1):c.*184G>A	DPAGT1, HMBS	Single nucleotide variant (3 prime UTR variant)	DPAGT1-congenital disorder of glycosylation +3 more	GBenign
Select item 302744	NM_001382.4(DPAGT1):c.*265A>G	DPAGT1, HMBS	Single nucleotide variant (3 prime UTR variant)	DPAGT1-congenital disorder of glycosylation +2 more	GConflicting classifications of pathogenicity
Select item 302741	NM_001382.4(DPAGT1):c.*417T>C	DPAGT1, HMBS	Single nucleotide variant (3 prime UTR variant)	Congenital disorder of glycosylation +3 more	GBenign
Select item 302740	NM_001382.4(DPAGT1):c.*427T>G	DPAGT1, HMBS	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 302738	NM_000190.4(HMBS):c.*194A>G	HMBS	Single nucleotide variant (3 prime UTR variant)	Acute intermittent porphyria	GUncertain significance
Select item 302737	NM_000190.4(HMBS):c.*101G>A	HMBS	Single nucleotide variant (3 prime UTR variant)	Acute intermittent porphyria	GUncertain significance
Select item 302736	NM_000190.4(HMBS):c.*94T>C	HMBS	Single nucleotide variant (3 prime UTR variant)	Acute intermittent porphyria	GUncertain significance
Select item 302735	NM_000190.4(HMBS):c.1026G>A (p.Leu342=)	HMBS	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 302734	NM_000190.4(HMBS):c.1020C>T (p.Asn340=)	HMBS	Single nucleotide variant (synonymous variant)	HMBS-related disorder +2 more	GBenign/Likely benign
Select item 302733	NM_000190.4(HMBS):c.723C>T (p.Pro241=)	HMBS	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 302732	NM_000190.4(HMBS):c.717C>T (p.His239=)	HMBS	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 302731	NM_000190.4(HMBS):c.615C>G (p.Ile205Met)	HMBS (I205M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 302730	NM_000190.4(HMBS):c.612+4G>A	HMBS	Single nucleotide variant (intron variant)	Acute intermittent porphyria +1 more	GConflicting classifications of pathogenicity
Select item 302729	NM_000190.4(HMBS):c.345-9C>T	HMBS	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 302728	NM_000190.4(HMBS):c.303C>T (p.Pro101=)	HMBS	Single nucleotide variant (synonymous variant)	Acute intermittent porphyria +1 more	GBenign
Select item 302727	NM_000190.4(HMBS):c.210+5C>A	HMBS	Single nucleotide variant (intron variant)	Acute intermittent porphyria +1 more	GBenign
Select item 302726	NM_000190.4(HMBS):c.135G>A (p.Ser45=)	HMBS	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 302725	NM_000190.4(HMBS):c.105G>C (p.Thr35=)	HMBS	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 302724	NM_000190.4(HMBS):c.-28A>C	HMBS	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 302723	NM_000190.4(HMBS):c.-65C>T	HMBS	Single nucleotide variant (5 prime UTR variant +1 more)	Acute intermittent porphyria	GBenign
Select item 255487	NM_000190.4(HMBS):c.88-14G>A	HMBS	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 255486	NM_000190.4(HMBS):c.613-19C>A	HMBS	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 255485	NM_000190.4(HMBS):c.606G>T (p.Val202=)	DPAGT1, HMBS	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation +3 more	GBenign/Likely benign
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 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 167007	NM_001382.4(DPAGT1):c.994T>G (p.Phe332Val)	DPAGT1, HMBS (F332V)	Single nucleotide variant (missense variant)	DPAGT1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 161253	NM_000190.4(HMBS):c.674G>A (p.Arg225Gln)	HMBS (R208Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 161252	NM_000190.4(HMBS):c.257A>T (p.Glu86Val)	HMBS (E69V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 161251	NM_000190.4(HMBS):c.583C>T (p.Arg195Cys)	HMBS (R178C +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 161250	NM_000190.4(HMBS):c.962G>A (p.Arg321His)	HMBS (R304H +3 more)	Single nucleotide variant (missense variant)	Acute intermittent porphyria +1 more	GConflicting classifications of pathogenicity
Select item 161249	NM_000190.4(HMBS):c.1075G>A (p.Asp359Asn)	HMBS (D342N +3 more)	Single nucleotide variant (missense variant)	Acute intermittent porphyria +1 more	GBenign/Likely benign
Select item 93728	NM_001382.4(DPAGT1):c.1177A>G (p.Ile393Val)	DPAGT1, HMBS (I393V)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +4 more	GBenign
Select item 68473	NM_005689.4(ABCB6):c.575G>A (p.Arg192Gln)	ABCB6 (R192Q)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 1486	NM_000190.4(HMBS):c.445C>T (p.Arg149Ter)	HMBS (R149* +1 more)	Single nucleotide variant (nonsense)	HMBS-related disorder +2 more	GPathogenic
Select item 1483	NM_000190.4(HMBS):c.849G>A (p.Trp283Ter)	HMBS (W283* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic

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