ClinVar for MedGen (Select 1643471) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068479	NM_000140.5(FECH):c.672T>G (p.Ile224Met)	FECH (I152M +2 more)	Single nucleotide variant (missense variant)	Protoporphyria, erythropoietic, 1	GLikely pathogenic
Select item 2574562	NM_000140.5(FECH):c.343C>T (p.Arg115Ter)	FECH (R115* +2 more)	Single nucleotide variant (nonsense)	Protoporphyria, erythropoietic, 1 +1 more	GPathogenic/Likely pathogenic
Select item 1805745	NM_000140.5(FECH):c.40del (p.Ala14fs)	FECH, LOC130062560 (A14fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 1409435	NM_000140.5(FECH):c.1217G>A (p.Cys406Tyr)	FECH (C334Y +4 more)	Single nucleotide variant (missense variant)	Protoporphyria, erythropoietic, 1 +1 more	GPathogenic/Likely pathogenic
Select item 1322894	NM_000140.5(FECH):c.286C>T (p.Arg96Ter)	FECH (R102* +2 more)	Single nucleotide variant (nonsense)	Protoporphyria, erythropoietic, 1 +1 more	GPathogenic
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 1276625	NM_000140.5(FECH):c.314+23A>G	FECH	Single nucleotide variant (intron variant)	Protoporphyria, erythropoietic, 1 +1 more	GBenign
Select item 1227694	NM_005689.4(ABCB6):c.1028G>A (p.Arg343Gln)	ABCB6 (R297Q +1 more)	Single nucleotide variant (missense variant)	ABCB6-related condition +3 more	GBenign
Select item 1184619	NM_000140.5(FECH):c.181C>T (p.Gln61Ter)	FECH (Q61*)	Single nucleotide variant (nonsense +1 more)	Protoporphyria, erythropoietic, 1	GLikely pathogenic
Select item 1069596	NM_000140.5(FECH):c.901_902del (p.Trp301fs)	FECH (W229fs +3 more)	Microsatellite (frameshift variant)	not provided +2 more	GPathogenic
Select item 1029666	NM_000140.5(FECH):c.959A>G (p.Lys320Arg)	FECH (K248R +3 more)	Single nucleotide variant (missense variant)	Protoporphyria, erythropoietic, 1 +1 more	GUncertain significance
Select item 992439	NM_000140.5(FECH):c.229G>A (p.Gly77Arg)	FECH (G5R +2 more)	Single nucleotide variant (missense variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 892152	NM_000140.5(FECH):c.1078-6A>G	FECH	Single nucleotide variant (intron variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 890412	NM_000140.5(FECH):c.464-4A>G	FECH	Single nucleotide variant (intron variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 803501	NM_000140.5(FECH):c.365del (p.Gln122fs)	FECH (Q128fs +2 more)	Deletion (frameshift variant)	Protoporphyria, erythropoietic, 1	GLikely pathogenic
Select item 803500	NM_000140.5(FECH):c.598+1G>T	FECH	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 803499	NM_000140.5(FECH):c.599-3C>T	FECH	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 631803	NM_000140.5(FECH):c.185C>G (p.Pro62Arg)	FECH (P62R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 631802	NM_000140.5(FECH):c.820G>A (p.Asp274Asn)	FECH (D274N +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 623168	NM_000140.5(FECH):c.913G>T (p.Val305Phe)	FECH (V305F +3 more)	Single nucleotide variant (missense variant)	Protoporphyria, erythropoietic, 1 +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)	not specified +5 more	GBenign/Likely benign
Select item 375409	NM_000140.5(FECH):c.1001C>T (p.Pro334Leu)	FECH (P334L +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 327437	NM_000140.5(FECH):c.132C>T (p.Ala44=)	FECH	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 327436	NM_000140.5(FECH):c.139A>G (p.Thr47Ala)	FECH (T47A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 327435	NM_000140.5(FECH):c.202A>G (p.Lys68Glu)	FECH (K68E +1 more)	Single nucleotide variant (missense variant +1 more)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327434	NM_000140.5(FECH):c.287G>A (p.Arg96Gln)	FECH (R96Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 327433	NM_000140.5(FECH):c.362A>G (p.Glu121Gly)	FECH (E121G +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 327432	NM_000140.5(FECH):c.385G>A (p.Gly129Arg)	FECH (G129R +2 more)	Single nucleotide variant (missense variant)	Protoporphyria, erythropoietic, 1	GLikely benign
Select item 327431	NM_000140.5(FECH):c.514G>A (p.Glu172Lys)	FECH (E172K +2 more)	Single nucleotide variant (missense variant)	Protoporphyria, erythropoietic, 1 +1 more	GBenign/Likely benign
Select item 327430	NM_000140.5(FECH):c.598+12T>A	FECH	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 327429	NM_000140.5(FECH):c.819C>T (p.Gly273=)	FECH	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 327428	NM_000140.5(FECH):c.854A>G (p.Gln285Arg)	FECH (Q291R +3 more)	Single nucleotide variant (missense variant)	Protoporphyria, erythropoietic, 1	GPathogenic/Likely pathogenic
Select item 327427	NM_000140.5(FECH):c.912+14A>G	FECH	Single nucleotide variant (intron variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327426	NM_000140.5(FECH):c.913-13A>G	FECH	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 327425	NM_000140.5(FECH):c.913-7C>T	FECH	Single nucleotide variant (intron variant)	FECH-related condition +2 more	GBenign/Likely benign
Select item 327424	NM_000140.5(FECH):c.935G>T (p.Gly312Val)	FECH (G312V +3 more)	Single nucleotide variant (missense variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327423	NM_000140.5(FECH):c.*55C>T	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327422	NM_000140.5(FECH):c.*60T>C	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327421	NM_000140.5(FECH):c.*117C>T	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GBenign
Select item 327420	NM_000140.5(FECH):c.*136G>C	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327419	NM_000140.5(FECH):c.*248C>T	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1 +1 more	GBenign
Select item 327418	NM_000140.5(FECH):c.*347G>A	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GLikely benign
Select item 327417	NM_000140.5(FECH):c.*394C>G	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327416	NM_000140.5(FECH):c.*422T>A	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GBenign
Select item 327415	NM_000140.5(FECH):c.*443A>C	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327414	NM_000140.5(FECH):c.*481A>G	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GBenign
Select item 327413	NM_000140.5(FECH):c.*571G>A	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GLikely benign
Select item 327412	NM_000140.5(FECH):c.*592C>T	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GLikely benign
Select item 327411	NM_000140.5(FECH):c.*696C>T	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GBenign
Select item 327410	NM_000140.5(FECH):c.*825T>C	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327409	NM_000140.5(FECH):c.*892T>C	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GLikely benign
Select item 327408	NM_000140.5(FECH):c.*936C>T	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GLikely benign
Select item 327407	NM_000140.5(FECH):c.*1032G>A	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GLikely benign
Select item 327406	NM_000140.5(FECH):c.*1039G>A	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GLikely benign
Select item 327405	NM_000140.5(FECH):c.*1054T>C	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GLikely benign
Select item 327404	NM_000140.5(FECH):c.*1071C>G	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327403	NM_000140.5(FECH):c.*1170T>A	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327402	NM_000140.5(FECH):c.*1173A>T	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327401	NM_000140.5(FECH):c.*1175G>A	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327400	NM_000140.5(FECH):c.*1176G>A	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327399	NM_000140.5(FECH):c.1170_1176delinsAAATCTTCTATGTTTGTATTACTCTCTGGTAA	FECH	Indel (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327398	NM_000140.5(FECH):c.*1287T>A	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327397	NM_000140.5(FECH):c.1287_1288insTTTA	FECH	Insertion (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327396	NM_000140.5(FECH):c.1287_1288insTA	FECH	Insertion (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GBenign
Select item 327395	NM_000140.5(FECH):c.*1348T>G	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327394	NM_000140.5(FECH):c.*1453T>C	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327393	NM_000140.5(FECH):c.*1479T>C	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GLikely benign
Select item 327392	NM_000140.5(FECH):c.*1508G>A	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GLikely benign
Select item 327391	NM_000140.5(FECH):c.*1567A>G	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GLikely benign
Select item 327390	NM_000140.5(FECH):c.*1622T>C	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GBenign
Select item 327389	NM_000140.5(FECH):c.*1915G>T	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GLikely benign
Select item 327388	NM_000140.5(FECH):c.*1950A>G	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327387	NM_000140.5(FECH):c.*1966G>T	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327386	NM_000140.5(FECH):c.*2060C>T	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327385	NM_000140.5(FECH):c.*2079C>T	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327384	NM_000140.5(FECH):c.*2371T>G	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GBenign
Select item 327383	NM_000140.5(FECH):c.*2441G>T	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327382	NM_000140.5(FECH):c.*2443T>G	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GLikely benign
Select item 327381	NM_000140.5(FECH):c.*2446G>T	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327380	NM_000140.5(FECH):c.*2436GTTTT[2]	FECH	Microsatellite (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327379	NM_000140.5(FECH):c.*2451T>G	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GBenign
Select item 327378	NM_000140.5(FECH):c.2450_2451insG	FECH	Insertion (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327377	NM_000140.5(FECH):c.2451_2452insG	FECH	Insertion (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327376	NM_000140.5(FECH):c.2459_2461dup	FECH	Duplication (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327375	NM_000140.5(FECH):c.*2461dup	FECH	Duplication (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GBenign
Select item 327374	NM_000140.5(FECH):c.*2513G>A	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327373	NM_000140.5(FECH):c.*2526T>C	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GBenign
Select item 327372	NM_000140.5(FECH):c.*2599C>T	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327371	NM_000140.5(FECH):c.*2600G>A	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327370	NM_000140.5(FECH):c.*2644A>G	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GLikely benign
Select item 327369	NM_000140.5(FECH):c.*2739T>C	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GBenign
Select item 327368	NM_000140.5(FECH):c.*2782G>T	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327367	NM_000140.5(FECH):c.*2788G>A	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GLikely benign
Select item 327366	NM_000140.5(FECH):c.*2825A>G	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GBenign
Select item 327365	NM_000140.5(FECH):c.*2840C>T	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GLikely benign
Select item 327364	NM_000140.5(FECH):c.*3129C>T	FECH, LOC129390998	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GLikely benign
Select item 327363	NM_000140.5(FECH):c.*3170T>C	FECH, LOC129390998	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GLikely benign
Select item 327362	NM_000140.5(FECH):c.*3339G>A	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GLikely benign

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