CP[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1965091	NM_000096.4(CP):c.3182-7T>A	CP	Single nucleotide variant (intron variant)	Deficiency of ferroxidase	GLikely benign
Select item 1275086	NM_000096.4(CP):c.3182-132T>C	CP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198081	NM_000096.4(CP):c.3182-251C>A	CP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209317	NM_000096.4(CP):c.3182-311A>G	CP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2884648	NM_000096.4(CP):c.3181+11A>C	CP	Single nucleotide variant (intron variant)	Deficiency of ferroxidase	GLikely benign
Select item 2364399	NM_000096.4(CP):c.3140A>T (p.His1047Leu)	CP (H1047L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 902448	NM_000096.4(CP):c.3130G>A (p.Asp1044Asn)	CP (D1044N)	Single nucleotide variant (missense variant)	Deficiency of ferroxidase	GUncertain significance
Select item 2617156	NM_000096.4(CP):c.3123T>A (p.His1041Gln)	CP (H1041Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2101531	NM_000096.4(CP):c.3118T>C (p.Cys1040Arg)	CP (C1040R)	Single nucleotide variant (missense variant)	Deficiency of ferroxidase	GUncertain significance
Select item 2097087	NM_000096.4(CP):c.3111A>G (p.Leu1037=)	CP	Single nucleotide variant (synonymous variant)	Deficiency of ferroxidase	GLikely benign
Select item 1036154	NM_000096.4(CP):c.3101G>C (p.Gly1034Ala)	CP (G1034A)	Single nucleotide variant (missense variant)	Deficiency of ferroxidase	GUncertain significance
Select item 2730148	NM_000096.4(CP):c.3076C>T (p.Leu1026=)	CP	Single nucleotide variant (synonymous variant)	Deficiency of ferroxidase	GLikely benign
Select item 3347418	NM_000096.4(CP):c.3033T>A (p.Tyr1011Ter)	CP (Y1011*)	Single nucleotide variant (nonsense)	CP-related disorder	GPathogenic
Select item 2585340	NM_000096.4(CP):c.3028G>A (p.Val1010Ile)	CP (V1010I)	Single nucleotide variant (missense variant)	Deficiency of ferroxidase	GUncertain significance
Select item 718063	NM_000096.4(CP):c.3024G>A (p.Arg1008=)	CP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1389287	NM_000096.4(CP):c.3021C>G (p.His1007Gln)	CP (H1007Q)	Single nucleotide variant (missense variant)	Deficiency of ferroxidase +1 more	GUncertain significance
Select item 17559	NM_000096.4(CP):c.3019-1G>A	CP	Single nucleotide variant (splice acceptor variant)	Deficiency of ferroxidase	GPathogenic
Select item 1226403	NM_000096.4(CP):c.3019-158A>C	CP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223721	NM_000096.4(CP):c.3019-165T>A	CP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1257508	NM_000096.4(CP):c.3018+96C>G	CP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1631042	NM_000096.4(CP):c.3018+9_3018+12dup	CP	Duplication (intron variant)	Deficiency of ferroxidase	GLikely benign
Select item 2154811	NM_000096.4(CP):c.3018+8C>T	CP	Single nucleotide variant (intron variant)	Deficiency of ferroxidase	GLikely benign
Select item 1953888	NM_000096.4(CP):c.3018+8C>G	CP	Single nucleotide variant (intron variant)	Deficiency of ferroxidase	GLikely benign
Select item 1198134	NM_000096.4(CP):c.3011A>G (p.Gln1004Arg)	CP (Q1004R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 767104	NM_000096.4(CP):c.3006C>T (p.Ser1002=)	CP	Single nucleotide variant (synonymous variant +1 more)	Deficiency of ferroxidase	GConflicting classifications of pathogenicity
Select item 2622962	NM_000096.4(CP):c.3004A>T (p.Ser1002Cys)	CP (S1002C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3000845	NM_000096.4(CP):c.3003T>C (p.His1001=)	CP	Single nucleotide variant (synonymous variant +1 more)	Deficiency of ferroxidase	GLikely benign
Select item 343750	NM_000096.4(CP):c.2998G>A (p.Gly1000Ser)	CP (G1000S)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase +1 more	GUncertain significance
Select item 766908	NM_000096.4(CP):c.2997C>T (p.His999=)	CP	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 217866	NM_000096.4(CP):c.2991T>G (p.His997Gln)	CP (H997Q)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase	Gnot provided
Select item 3028982	NM_000096.4(CP):c.2987T>C (p.Val996Ala)	CP (V996A)	Single nucleotide variant (missense variant +1 more)	CP-related disorder	GUncertain significance
Select item 2078888	NM_000096.4(CP):c.2978T>C (p.Leu993Ser)	CP (L993S)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase	GUncertain significance
Select item 2198626	NM_000096.4(CP):c.2977T>C (p.Leu993=)	CP	Single nucleotide variant (synonymous variant +1 more)	Deficiency of ferroxidase	GLikely benign
Select item 871316	NM_000096.4(CP):c.2973dup (p.Asp992fs)	CP (D992fs)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 42055	NM_000096.4(CP):c.2962G>A (p.Gly988Ser)	CP (G988S)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase	Gnot provided
Select item 1810521	NM_000096.4(CP):c.2961G>A (p.Met987Ile)	CP (M987I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3076498	NM_000096.4(CP):c.2960T>C (p.Met987Thr)	CP (M987T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 42062	NM_000096.4(CP):c.2953A>G (p.Met985Val)	CP (M985V)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase	GPathogenic
Select item 1554419	NM_000096.4(CP):c.2952G>A (p.Leu984=)	CP	Single nucleotide variant (synonymous variant +1 more)	Deficiency of ferroxidase	GLikely benign
Select item 2188776	NM_000096.4(CP):c.2947T>C (p.Tyr983His)	CP (Y983H)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase	GUncertain significance
Select item 2127583	NM_000096.4(CP):c.2934T>C (p.Asp978=)	CP	Single nucleotide variant (synonymous variant +1 more)	Deficiency of ferroxidase	GLikely benign
Select item 1428841	NM_000096.4(CP):c.2926G>A (p.Val976Met)	CP (V976M)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase	GUncertain significance
Select item 2136946	NM_000096.4(CP):c.2925C>T (p.His975=)	CP	Single nucleotide variant (synonymous variant +1 more)	Deficiency of ferroxidase	GLikely benign
Select item 42156	NM_000096.4(CP):c.2917dup (p.Thr973fs)	CP (T973fs)	Duplication (frameshift variant +1 more)	Deficiency of ferroxidase	GPathogenic
Select item 1423779	NM_000096.4(CP):c.2900G>C (p.Gly967Ala)	CP (G967A)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase +1 more	GUncertain significance
Select item 1994966	NM_000096.4(CP):c.2886T>G (p.Asn962Lys)	CP (N962K)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase	GUncertain significance
Select item 431112	NM_000096.4(CP):c.2879-1G>T	CP	Single nucleotide variant (splice acceptor variant)	Deficiency of ferroxidase	GLikely pathogenic
Select item 42155	NM_000096.4(CP):c.2879-1G>A	CP	Single nucleotide variant (splice acceptor variant)	Deficiency of ferroxidase	GPathogenic
Select item 1322157	NM_000096.4(CP):c.2879-2A>G	CP	Single nucleotide variant (splice acceptor variant)	Deficiency of ferroxidase	GPathogenic
Select item 1241715	NM_000096.4(CP):c.2878+197C>T	CP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242423	NM_000096.4(CP):c.2878+97A>G	CP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1599698	NM_000096.4(CP):c.2878+14T>C	CP	Single nucleotide variant (intron variant)	Deficiency of ferroxidase	GBenign
Select item 903310	NM_000096.4(CP):c.2878+12T>G	CP	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1595832	NM_000096.4(CP):c.2878+9C>T	CP	Single nucleotide variant (intron variant)	Deficiency of ferroxidase	GLikely benign
Select item 707535	NM_000096.4(CP):c.2878+7C>A	CP	Single nucleotide variant (intron variant)	Deficiency of ferroxidase	GLikely benign
Select item 2618956	NM_000096.4(CP):c.2864G>A (p.Ser955Asn)	CP (S955N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2006165	NM_000096.4(CP):c.2860G>A (p.Glu954Lys)	CP (E954K)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase	GUncertain significance
Select item 1336003	NM_000096.4(CP):c.2847T>G (p.Asp949Glu)	CP (D949E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1367329	NM_000096.4(CP):c.2837A>G (p.Asn946Ser)	CP (N946S)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase	GUncertain significance
Select item 1091257	NM_000096.4(CP):c.2835A>G (p.Val945=)	CP	Single nucleotide variant (synonymous variant +1 more)	Deficiency of ferroxidase	GLikely benign
Select item 2061666	NM_000096.4(CP):c.2831A>G (p.Lys944Arg)	CP (K944R)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase	GUncertain significance
Select item 1013751	NM_000096.4(CP):c.2827G>A (p.Glu943Lys)	CP (E943K)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase	GUncertain significance
Select item 863254	NM_000096.4(CP):c.2816C>G (p.Ser939Cys)	CP (S939C)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase	GUncertain significance
Select item 2740936	NM_000096.4(CP):c.2811A>G (p.Thr937=)	CP	Single nucleotide variant (synonymous variant +1 more)	Deficiency of ferroxidase	GLikely benign
Select item 2283326	NM_000096.4(CP):c.2798A>C (p.Asp933Ala)	CP (D933A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 128840	NM_000096.4(CP):c.2793A>G (p.Leu931=)	CP	Single nucleotide variant (synonymous variant +1 more)	Deficiency of ferroxidase +1 more	GConflicting classifications of pathogenicity
Select item 766964	NM_000096.4(CP):c.2790C>T (p.Tyr930=)	CP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1373612	NM_000096.4(CP):c.2782T>A (p.Ser928Thr)	CP (S928T)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase	GUncertain significance
Select item 1034948	NM_000096.4(CP):c.2762T>C (p.Leu921Pro)	CP (L921P)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase	GUncertain significance
Select item 431113	NM_000096.4(CP):c.2756T>C (p.Leu919Pro)	CP (L919P)	Single nucleotide variant (missense variant +1 more)	Neurodegeneration with brain iron accumulation +1 more	GPathogenic/Likely pathogenic
Select item 2192691	NM_000096.4(CP):c.2741T>G (p.Leu914Arg)	CP (L914R)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase	GUncertain significance
Select item 2063174	NM_000096.4(CP):c.2741T>A (p.Leu914Gln)	CP (L914Q)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase	GUncertain significance
Select item 2047694	NM_000096.4(CP):c.2732G>T (p.Arg911Ile)	CP (R911I)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase	GUncertain significance
Select item 3020469	NM_000096.4(CP):c.2712del (p.Tyr904_Leu905insTer)	CP	Deletion (frameshift variant +1 more)	Deficiency of ferroxidase	GPathogenic
Select item 1587541	NM_000096.4(CP):c.2704A>C (p.Arg902=)	CP	Single nucleotide variant (synonymous variant +1 more)	Deficiency of ferroxidase	GLikely benign
Select item 582988	NM_000096.4(CP):c.2702dup (p.Arg902fs)	CP (R902fs)	Duplication (frameshift variant +1 more)	Deficiency of ferroxidase	GPathogenic
Select item 42124	NM_000096.4(CP):c.2701C>T (p.Arg901Ter)	CP (R901*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 2765676	NM_000096.4(CP):c.2698T>C (p.Cys900Arg)	CP (C900R)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase	GUncertain significance
Select item 343751	NM_000096.4(CP):c.2697T>C (p.Val899=)	CP	Single nucleotide variant (synonymous variant +1 more)	Deficiency of ferroxidase	GConflicting classifications of pathogenicity
Select item 42154	NM_000096.4(CP):c.2689_2690del (p.Leu897fs)	CP (L897fs)	Deletion (frameshift variant +1 more)	Deficiency of ferroxidase	GPathogenic
Select item 1405721	NM_000096.4(CP):c.2687C>T (p.Pro896Leu)	CP (P896L)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase	GUncertain significance
Select item 42054	NM_000096.4(CP):c.2684G>C (p.Gly895Ala)	CP (G895A)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase +2 more	GConflicting classifications of pathogenicity
Select item 638933	NM_000096.4(CP):c.2681T>C (p.Ile894Thr)	CP (I894T)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase	GUncertain significance
Select item 1373757	NM_000096.4(CP):c.2677T>G (p.Leu893Val)	CP (L893V)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase	GUncertain significance
Select item 42053	NM_000096.4(CP):c.2675G>A (p.Gly892Glu)	CP (G892E)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase	GPathogenic
Select item 952512	NM_000096.4(CP):c.2670C>G (p.Tyr890Ter)	CP (Y890*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 1495004	NM_000096.4(CP):c.2669A>G (p.Tyr890Cys)	CP (Y890C)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase	GUncertain significance
Select item 1976060	NM_000096.4(CP):c.2662-3C>T	CP	Single nucleotide variant (intron variant)	Deficiency of ferroxidase	GUncertain significance
Select item 194589	NM_000096.4(CP):c.2662-12T>C	CP	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1156861	NM_000096.4(CP):c.2662-13T>C	CP	Single nucleotide variant (intron variant)	Deficiency of ferroxidase	GLikely benign
Select item 343752	NM_000096.4(CP):c.2662-14T>C	CP	Single nucleotide variant (intron variant)	Deficiency of ferroxidase	GConflicting classifications of pathogenicity
Select item 1218958	NM_000096.4(CP):c.2662-123T>C	CP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289079	NM_000096.4(CP):c.2661+133T>G	CP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188078	NM_000096.4(CP):c.2661+44CA[2]	CP	Microsatellite (intron variant)	not provided	GLikely benign
Select item 3076497	NM_000096.4(CP):c.2652T>A (p.Asp884Glu)	CP (D884E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1495240	NM_000096.4(CP):c.2650G>C (p.Asp884His)	CP (D884H)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase	GUncertain significance
Select item 1919025	NM_000096.4(CP):c.2636A>T (p.Tyr879Phe)	CP (Y879F)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase	GUncertain significance
Select item 17562	NM_000096.4(CP):c.2630G>A (p.Trp877Ter)	CP (W877*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2083924	NM_000096.4(CP):c.2626C>T (p.Pro876Ser)	CP (P876S)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase	GUncertain significance
Select item 2023280	NM_000096.4(CP):c.2622T>C (p.Cys874=)	CP	Single nucleotide variant (synonymous variant +1 more)	Deficiency of ferroxidase	GLikely benign

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