Related gene-specific medical variations for Gene (Select 2235) - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242785	NC_000018.9:g.(?_55217944)_(55226495_?)del	FECH	Deletion	not provided	GPathogenic
Select item 3242784	NC_000018.9:g.(?_55247285)_(55254103_?)del	FECH	Deletion	not provided	GPathogenic
Select item 2972887	NM_000140.5(FECH):c.67+4A>G	FECH, LOC130062560	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2458659	NM_000140.5(FECH):c.37C>A (p.Arg13Ser)	FECH, LOC130062560 (R13S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2211641	NM_000140.5(FECH):c.47G>A (p.Gly16Asp)	FECH, LOC130062560 (G16D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2187456	NM_000140.5(FECH):c.10C>T (p.Leu4Phe)	FECH, LOC130062560 (L4F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2138164	NM_000140.5(FECH):c.67+6T>G	FECH, LOC130062560	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2061175	NM_000140.5(FECH):c.67+20C>T	FECH, LOC130062560	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1985962	NM_000140.5(FECH):c.2T>C (p.Met1Thr)	FECH, LOC130062560 (M1T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 1667999	NM_000140.5(FECH):c.68-20G>A	FECH, LOC130062555	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1615173	NM_000140.5(FECH):c.34C>T (p.Leu12=)	FECH, LOC130062560	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1606577	NM_000140.5(FECH):c.67+8G>T	FECH, LOC130062560	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1510471	NM_000140.5(FECH):c.67+5G>A	FECH, LOC130062560	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1452410	NM_000140.5(FECH):c.63_67delTCCGC (p.Pro22fs)	FECH, LOC130062560 (P22fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1280496	NM_000140.5(FECH):c.67+76C>T	FECH, LOC130062559	Single nucleotide variant (intron variant)	not provided	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 1002019	NM_000140.5(FECH):c.14_15delinsAA (p.Gly5Glu)	FECH, LOC130062560 (G5E)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 930105	NM_000140.5(FECH):c.47del (p.Gly16fs)	FECH, LOC130062560 (G16fs)	Deletion (frameshift variant +1 more)	Autosomal erythropoietic protoporphyria	GLikely pathogenic
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 327325	NM_000140.5(FECH):c.*5090G>A	LOC130062554, FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327324	NM_000140.5(FECH):c.*5139C>T	FECH, LOC130062554	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GLikely benign
Select item 327323	NM_000140.5(FECH):c.*5140G>A	FECH, LOC130062554	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GLikely benign
Select item 327322	NM_000140.5(FECH):c.*5143C>T	FECH, LOC130062554	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GLikely benign
Select item 327321	NM_000140.5(FECH):c.*5170T>C	FECH, LOC130062554	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 242821	NM_000140.5(FECH):c.1224T>A (p.Asn408Lys)	FECH (N408K +4 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 242755	NM_000140.5(FECH):c.1225C>T (p.Pro409Ser)	FECH (P409S +4 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 550	NM_000140.5(FECH):c.68-23C>T	FECH, LOC130062555	Single nucleotide variant (intron variant)	Protoporphyria, erythropoietic, 1 +1 more	GConflicting classifications of pathogenicity

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Items: 29