ClinVar for Gene (Select 2235) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3357028	NM_000140.5(FECH):c.808G>T (p.Val270Phe)	FECH (V198F +3 more)	Single nucleotide variant (missense variant)	FECH-related disorder	GUncertain significance
Select item 3346176	NM_000140.5(FECH):c.1099A>T (p.Arg367Ter)	FECH (R295* +3 more)	Single nucleotide variant (nonsense +1 more)	FECH-related disorder	GPathogenic
Select item 3278466	NM_000140.5(FECH):c.656T>C (p.Met219Thr)	FECH (M225T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3278465	NM_000140.5(FECH):c.652A>G (p.Thr218Ala)	FECH (T146A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3278464	NM_000140.5(FECH):c.134T>C (p.Val45Ala)	FECH (V45A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3255565	NM_000140.5(FECH):c.205dup (p.Thr69fs)	FECH (T69fs +1 more)	Duplication (frameshift variant +1 more)	Protoporphyria, erythropoietic, 1	GPathogenic
Select item 3255133	NM_000140.5(FECH):c.1078-5T>G	FECH	Single nucleotide variant (intron variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
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 3094363	NM_000140.5(FECH):c.951A>T (p.Glu317Asp)	FECH (E284D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3094362	NM_000140.5(FECH):c.874G>C (p.Glu292Gln)	FECH (E220Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3094361	NM_000140.5(FECH):c.259G>A (p.Asp87Asn)	FECH (D93N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3094360	NM_000140.5(FECH):c.200C>T (p.Pro67Leu)	FECH (P67L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3062374	GRCh37/hg19 18q21.2-23(chr18:48766173-78014123)x1	ADNP2, ALPK2 +90 more	Copy number loss	not specified	GPathogenic
Select item 3049947	NM_000140.5(FECH):c.315T>C (p.Asn105=)	FECH	Single nucleotide variant (synonymous variant)	FECH-related disorder	GLikely benign
Select item 3033502	NM_000140.5(FECH):c.315-1G>C	FECH	Single nucleotide variant (splice acceptor variant)	FECH-related disorder	GLikely pathogenic
Select item 3031362	NM_000140.5(FECH):c.1152G>A (p.Leu384=)	FECH	Single nucleotide variant (synonymous variant)	FECH-related disorder	GLikely benign
Select item 3012997	NM_000140.5(FECH):c.195-11A>G	FECH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011736	NM_000140.5(FECH):c.1138-9A>G	FECH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004047	NM_000140.5(FECH):c.194+7G>A	FECH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2999893	NM_000140.5(FECH):c.132C>G (p.Ala44=)	FECH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2981948	NM_000140.5(FECH):c.333C>T (p.Ile111=)	FECH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972887	NM_000140.5(FECH):c.67+4A>G	FECH, LOC130062560	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2961319	NM_000140.5(FECH):c.1077+12C>T	FECH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960520	NM_000140.5(FECH):c.793C>G (p.Leu265Val)	FECH (L193V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2959258	NM_000140.5(FECH):c.1137+16C>A	FECH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2910597	NM_000140.5(FECH):c.949G>A (p.Glu317Lys)	FECH (E317K +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2888184	NM_000140.5(FECH):c.195-4A>G	FECH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2885306	NM_000140.5(FECH):c.117T>C (p.Gly39=)	FECH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2870081	NM_000140.5(FECH):c.885C>A (p.Asn295Lys)	FECH (N223K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2857092	NM_000140.5(FECH):c.140C>G (p.Thr47Arg)	FECH (T47R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2851413	NM_000140.5(FECH):c.598+4A>T	FECH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2818134	NM_000140.5(FECH):c.621C>A (p.Tyr207Ter)	FECH (Y135* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2813211	NM_000140.5(FECH):c.947A>G (p.Asp316Gly)	FECH (D244G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2801827	NM_000140.5(FECH):c.689A>C (p.His230Pro)	FECH (H236P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2800260	NM_000140.5(FECH):c.803C>T (p.Ser268Phe)	FECH (S274F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2791270	NM_000140.5(FECH):c.805-15G>C	FECH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2787784	NM_000140.5(FECH):c.590C>T (p.Ser197Phe)	FECH (S203F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2787097	NM_000140.5(FECH):c.1137+16C>T	FECH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2769666	NM_000140.5(FECH):c.598+7G>A	FECH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2763632	NM_000140.5(FECH):c.1136A>G (p.Lys379Arg)	FECH (K307R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2755802	NM_000140.5(FECH):c.1138-6T>A	FECH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2736739	NM_000140.5(FECH):c.451T>C (p.Ser151Pro)	FECH (S79P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2736738	NM_000140.5(FECH):c.643C>T (p.Arg215Trp)	FECH (R215W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2736737	NM_000140.5(FECH):c.705+1G>A	FECH	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2736735	NM_000140.5(FECH):c.804+5G>A	FECH	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2736734	NM_000140.5(FECH):c.930G>A (p.Trp310Ter)	FECH (W316* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2736733	NM_000140.5(FECH):c.1077G>A (p.Glu359=)	FECH	Single nucleotide variant (synonymous variant)	not provided	GPathogenic
Select item 2736732	NM_000140.5(FECH):c.1078-1G>A	FECH	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GPathogenic
Select item 2736731	NM_000140.5(FECH):c.1137+2T>G	FECH	Single nucleotide variant (splice donor variant +1 more)	not provided	GPathogenic
Select item 2729763	NM_000140.5(FECH):c.1032G>A (p.Thr344=)	FECH	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2727476	NM_000140.5(FECH):c.954dup (p.Ile319fs)	FECH (I247fs +3 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2720064	NM_000140.5(FECH):c.671T>C (p.Ile224Thr)	FECH (I224T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2702299	NM_000140.5(FECH):c.599-2A>C	FECH	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2683631	NM_000140.5(FECH):c.215dup (p.Leu72fs)	FECH (L72fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2683460	NM_000140.5(FECH):c.598+3A>G	FECH	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2683459	NM_000140.5(FECH):c.613G>A (p.Ala205Thr)	FECH (A133T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683458	NM_000140.5(FECH):c.656T>G (p.Met219Arg)	FECH (M147R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2631286	NM_000140.5(FECH):c.835G>A (p.Glu279Lys)	FECH (E207K +3 more)	Single nucleotide variant (missense variant)	Protoporphyria, erythropoietic, 1 +1 more	GConflicting classifications of pathogenicity
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 2527792	NM_000140.5(FECH):c.953C>G (p.Ser318Cys)	FECH (S285C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506541	GRCh37/hg19 18q21.31-21.32(chr18:55020078-56892966)	GRP, MALT1 +10 more	Copy number loss	Cholestasis	GPathogenic
Select item 2503889	NM_000140.5(FECH):c.1264C>T (p.Gln422Ter)	FECH (Q350* +4 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 2500175	NM_000140.5(FECH):c.1049_1052dup (p.Glu351fs)	FECH (E279fs +3 more)	Duplication (frameshift variant)	Autosomal erythropoietic protoporphyria	GPathogenic
Select item 2461890	NM_000140.5(FECH):c.800T>C (p.Met267Thr)	FECH (M195T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2425868	NC_000018.9:g.(?_55217944)_(58040587_?)del	ALPK2, ATP8B1 +14 more	Deletion	Isolated microphthalmia 3	GPathogenic
Select item 2425645	NC_000018.9:g.(?_55217944)_(58039582_?)dup	ALPK2, ATP8B1 +14 more	Duplication	not provided	GUncertain significance
Select item 2422455	NC_000018.9:g.(?_55222057)_(55225777_?)del	FECH	Deletion	not provided	GPathogenic
Select item 2422454	NC_000018.9:g.(?_55225777)_(55226495_?)del	FECH	Deletion	not provided	GPathogenic
Select item 2393226	NM_000140.5(FECH):c.653C>T (p.Thr218Met)	FECH (T224M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352055	NM_000140.5(FECH):c.1037A>G (p.Tyr346Cys)	FECH (Y274C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313642	NM_000140.5(FECH):c.623G>A (p.Arg208Lys)	FECH (R208K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292192	NM_000140.5(FECH):c.115G>A (p.Gly39Ser)	FECH (G39S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2257371	NM_000140.5(FECH):c.161A>G (p.Gln54Arg)	FECH (Q54R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2224498	NM_000140.5(FECH):c.496G>A (p.Val166Ile)	FECH (V166I +2 more)	Single nucleotide variant (missense variant)	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 2181332	NM_000140.5(FECH):c.913-7C>G	FECH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2180010	NM_000140.5(FECH):c.258C>T (p.His86=)	FECH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2165530	NM_000140.5(FECH):c.186G>A (p.Pro62=)	FECH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2138164	NM_000140.5(FECH):c.67+6T>G	FECH, LOC130062560	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2138162	NM_000140.5(FECH):c.479A>G (p.Tyr160Cys)	FECH (Y166C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2138161	NM_000140.5(FECH):c.490C>T (p.Arg164Trp)	FECH (R164W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2138159	NM_000140.5(FECH):c.913-2A>G	FECH	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2138158	NM_000140.5(FECH):c.963del (p.Leu322fs)	FECH (L250fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2135949	NM_000140.5(FECH):c.912+8G>C	FECH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2069985	NM_000140.5(FECH):c.384C>T (p.Gly128=)	FECH	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2061175	NM_000140.5(FECH):c.67+20C>T	FECH, LOC130062560	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2060398	NM_000140.5(FECH):c.104G>A (p.Arg35Lys)	FECH (R35K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2057756	NM_000140.5(FECH):c.1137+18A>T	FECH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2057493	NM_000140.5(FECH):c.586T>C (p.Cys196Arg)	FECH (C196R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2031565	NM_000140.5(FECH):c.314+6A>G	FECH	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2011661	NM_000140.5(FECH):c.1077+1del	FECH	Deletion (splice donor variant)	not provided	GPathogenic
Select item 2006835	NM_000140.5(FECH):c.232G>A (p.Gly78Ser)	FECH (G6S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1984293	NM_000140.5(FECH):c.804+10A>G	FECH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1980910	NM_000140.5(FECH):c.639G>T (p.Val213=)	FECH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1980255	NM_000140.5(FECH):c.315-14G>C	FECH	Single nucleotide variant (intron variant)	not provided	GLikely benign

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