ClinVar for MedGen (Select 168057) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 484

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246876	NC_000003.11:g.(?_148888289)_(148904456_?)del	CP, HPS3	Deletion	Deficiency of ferroxidase	GLikely pathogenic
Select item 3246875	NC_000003.11:g.(?_148939414)_(148939579_?)del	CP	Deletion	Deficiency of ferroxidase	GPathogenic
Select item 3246874	NC_000003.11:g.(?_148447967)_(149678891_?)del	AGTR1, ANKUB1 +12 more	Deletion	Deficiency of ferroxidase	GPathogenic
Select item 3061972	NM_000096.4(CP):c.1864+5G>A	CP	Single nucleotide variant (intron variant)	Deficiency of ferroxidase	GPathogenic
Select item 3020469	NM_000096.4(CP):c.2712del (p.Tyr904_Leu905insTer)	CP	Deletion (frameshift variant +1 more)	Deficiency of ferroxidase	GPathogenic
Select item 3017507	NM_000096.4(CP):c.3186C>A (p.Thr1062=)	CP, HPS3	Single nucleotide variant (synonymous variant +1 more)	Deficiency of ferroxidase	GLikely benign
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 2972228	NM_000096.4(CP):c.2316G>A (p.Glu772=)	CP	Single nucleotide variant (synonymous variant +1 more)	Deficiency of ferroxidase	GLikely benign
Select item 2970094	NM_000096.4(CP):c.141T>C (p.Val47=)	CP	Single nucleotide variant (synonymous variant +1 more)	Deficiency of ferroxidase	GLikely benign
Select item 2918511	NM_000096.4(CP):c.2520_2523del (p.Thr841fs)	CP (T841fs)	Deletion (frameshift variant +1 more)	Deficiency of ferroxidase	GPathogenic
Select item 2909769	NM_000096.4(CP):c.2149C>T (p.Gln717Ter)	CP (Q717*)	Single nucleotide variant (nonsense +1 more)	Deficiency of ferroxidase	GPathogenic
Select item 2897644	NM_000096.4(CP):c.1125C>T (p.Tyr375=)	CP	Single nucleotide variant (synonymous variant +1 more)	Deficiency of ferroxidase	GLikely benign
Select item 2896473	NM_000096.4(CP):c.2215G>C (p.Val739Leu)	CP (V739L)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase	GUncertain significance
Select item 2885502	NM_000096.4(CP):c.2555-4T>G	CP	Single nucleotide variant (intron variant)	Deficiency of ferroxidase	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 2862930	NM_000096.4(CP):c.1106del (p.Lys369fs)	CP (K369fs)	Deletion (frameshift variant +1 more)	Deficiency of ferroxidase	GPathogenic
Select item 2849059	NM_000096.4(CP):c.1865-12C>G	CP	Single nucleotide variant (intron variant)	Deficiency of ferroxidase	GLikely benign
Select item 2849001	NM_000096.4(CP):c.306A>G (p.Gly102=)	CP	Single nucleotide variant (synonymous variant +1 more)	Deficiency of ferroxidase	GLikely benign
Select item 2842963	NM_000096.4(CP):c.1079C>A (p.Ser360Tyr)	CP (S360Y)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase	GUncertain significance
Select item 2834328	NM_000096.4(CP):c.2078-75_2241del	CP	Deletion (splice acceptor variant)	Deficiency of ferroxidase	GLikely pathogenic
Select item 2802899	NM_000096.4(CP):c.1081T>C (p.Ser361Pro)	CP (S361P)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase	GUncertain significance
Select item 2795846	NM_000096.4(CP):c.2555-12T>C	CP	Single nucleotide variant (intron variant)	Deficiency of ferroxidase	GLikely benign
Select item 2765677	NM_000096.4(CP):c.2133A>G (p.Gln711=)	CP	Single nucleotide variant (synonymous variant +1 more)	Deficiency of ferroxidase	GLikely benign
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 2761363	NM_000096.4(CP):c.2285+9C>G	CP	Single nucleotide variant (intron variant)	Deficiency of ferroxidase	GLikely benign
Select item 2756425	NM_000096.4(CP):c.1056C>T (p.Phe352=)	CP	Single nucleotide variant (synonymous variant +1 more)	Deficiency of ferroxidase	GLikely benign
Select item 2747855	NM_000096.4(CP):c.607+18T>A	CP	Single nucleotide variant (intron variant)	Deficiency of ferroxidase	GLikely benign
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 2730148	NM_000096.4(CP):c.3076C>T (p.Leu1026=)	CP	Single nucleotide variant (synonymous variant)	Deficiency of ferroxidase	GLikely benign
Select item 2727531	NM_000096.4(CP):c.746A>C (p.Asp249Ala)	CP (D249A)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase	GLikely benign
Select item 2714701	NM_000096.4(CP):c.1320C>T (p.Gly440=)	CP	Single nucleotide variant (synonymous variant +1 more)	Deficiency of ferroxidase	GLikely benign
Select item 2710179	NM_000096.4(CP):c.1218G>A (p.Ala406=)	CP	Single nucleotide variant (synonymous variant +1 more)	Deficiency of ferroxidase	GLikely benign
Select item 2630109	NM_000096.4(CP):c.1991_1992del (p.Thr664fs)	CP (T664fs)	Microsatellite (frameshift variant)	CP-related disorder +1 more	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 2440519	NM_000096.4(CP):c.1169T>C (p.Ile390Thr)	CP (I390T)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase +1 more	GUncertain significance
Select item 2418882	NM_000096.4(CP):c.607+9_607+11del	CP	Microsatellite (intron variant)	Deficiency of ferroxidase	GLikely benign
Select item 2413832	NM_000096.4(CP):c.465T>C (p.Tyr155=)	CP	Single nucleotide variant (synonymous variant +1 more)	Deficiency of ferroxidase	GLikely benign
Select item 2234185	NM_000096.4(CP):c.1333C>T (p.His445Tyr)	CP (H445Y)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase +1 more	GUncertain significance
Select item 2203453	NM_000096.4(CP):c.1306C>T (p.Arg436Ter)	CP (R436*)	Single nucleotide variant (nonsense +1 more)	Deficiency of ferroxidase	GPathogenic
Select item 2202308	NM_000096.4(CP):c.1758T>C (p.Asp586=)	CP	Single nucleotide variant (synonymous variant +1 more)	Deficiency of ferroxidase	GLikely benign
Select item 2201816	NM_000096.4(CP):c.240T>C (p.Phe80=)	CP	Single nucleotide variant (synonymous variant +1 more)	Deficiency of ferroxidase	GLikely benign
Select item 2201413	NM_000096.4(CP):c.438T>A (p.Asp146Glu)	CP (D146E)	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 2197789	NM_000096.4(CP):c.395-14A>T	CP	Single nucleotide variant (intron variant)	Deficiency of ferroxidase	GLikely benign
Select item 2195718	NM_000096.4(CP):c.1864+12A>G	CP	Single nucleotide variant (intron variant)	Deficiency of ferroxidase	GLikely benign
Select item 2194179	NM_000096.4(CP):c.2012G>A (p.Arg671Gln)	CP (R671Q)	Single nucleotide variant (missense variant)	Deficiency of ferroxidase	GUncertain significance
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 2191454	NM_000096.4(CP):c.210C>T (p.Ala70=)	CP	Single nucleotide variant (synonymous variant +1 more)	Deficiency of ferroxidase	GLikely benign
Select item 2190689	NM_000096.4(CP):c.1029T>C (p.His343=)	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 2186165	NM_000096.4(CP):c.2286-18G>C	CP	Single nucleotide variant (intron variant)	Deficiency of ferroxidase	GLikely benign
Select item 2182610	NM_000096.4(CP):c.2227T>G (p.Trp743Gly)	CP (W743G)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase	GUncertain significance
Select item 2170971	NM_000096.4(CP):c.2347G>A (p.Val783Met)	CP (V783M)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase	GUncertain significance
Select item 2160474	NM_000096.4(CP):c.952C>T (p.Pro318Ser)	CP (P318S)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase	GUncertain significance
Select item 2157586	NM_000096.4(CP):c.181G>T (p.Asp61Tyr)	CP (D61Y)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase	GUncertain significance
Select item 2156377	NM_000096.4(CP):c.607+18T>C	CP	Single nucleotide variant (intron variant)	Deficiency of ferroxidase	GLikely benign
Select item 2155789	NM_000096.4(CP):c.277T>A (p.Leu93Ile)	CP (L93I)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase	GUncertain significance
Select item 2154811	NM_000096.4(CP):c.3018+8C>T	CP	Single nucleotide variant (intron variant)	Deficiency of ferroxidase	GLikely benign
Select item 2152841	NM_000096.4(CP):c.117T>A (p.His39Gln)	CP (H39Q)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase +1 more	GUncertain significance
Select item 2152809	NM_000096.4(CP):c.390T>A (p.His130Gln)	CP (H130Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2149123	NM_000096.4(CP):c.250A>G (p.Ile84Val)	CP (I84V)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase	GUncertain significance
Select item 2143021	NM_000096.4(CP):c.608-6C>T	CP	Single nucleotide variant (intron variant)	Deficiency of ferroxidase	GLikely benign
Select item 2142616	NM_000096.4(CP):c.1208+18A>G	CP	Single nucleotide variant (intron variant)	Deficiency of ferroxidase	GLikely benign
Select item 2140865	NM_000096.4(CP):c.2377C>T (p.Arg793Cys)	CP (R793C)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase	GUncertain significance
Select item 2140320	NM_000096.4(CP):c.1959C>T (p.Ala653=)	CP	Single nucleotide variant (synonymous variant)	Deficiency of ferroxidase	GLikely benign
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 2133632	NM_000096.4(CP):c.1036+15C>T	CP	Single nucleotide variant (intron variant)	Deficiency of ferroxidase	GConflicting classifications of pathogenicity
Select item 2131262	NM_000096.4(CP):c.1201C>T (p.Pro401Ser)	CP (P401S)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase	GUncertain significance
Select item 2130664	NM_000096.4(CP):c.1648T>A (p.Phe550Ile)	CP (F550I)	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 2101531	NM_000096.4(CP):c.3118T>C (p.Cys1040Arg)	CP (C1040R)	Single nucleotide variant (missense variant)	Deficiency of ferroxidase	GUncertain significance
Select item 2098298	NM_000096.4(CP):c.1401C>G (p.Asn467Lys)	CP (N467K)	Single nucleotide variant (missense variant +1 more)	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 2088959	NM_000096.4(CP):c.608-4_608-3insT	CP	Insertion (intron variant)	Deficiency of ferroxidase	GLikely benign
Select item 2086238	NM_000096.4(CP):c.2052G>A (p.Thr684=)	CP	Single nucleotide variant (synonymous variant)	Deficiency of ferroxidase	GLikely benign
Select item 2086065	NM_000096.4(CP):c.2342A>C (p.Lys781Thr)	CP (K781T)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase	GUncertain significance
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 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 2076653	NM_000096.4(CP):c.2056C>T (p.His686Tyr)	CP (H686Y)	Single nucleotide variant (missense variant)	Deficiency of ferroxidase	GUncertain significance
Select item 2074452	NM_000096.4(CP):c.147-11T>G	CP	Single nucleotide variant (intron variant)	Deficiency of ferroxidase	GUncertain significance
Select item 2068185	NM_000096.4(CP):c.2407G>C (p.Glu803Gln)	CP (E803Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2066481	NM_000096.4(CP):c.40A>G (p.Ser14Gly)	CP (S14G)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase	GLikely benign
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 2061890	NM_000096.4(CP):c.1958_1963del (p.Ala653_Asp654del)	CP	Deletion (inframe_deletion)	Deficiency of ferroxidase	GUncertain significance
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 2057564	NM_000096.4(CP):c.2554+10G>A	CP	Single nucleotide variant (intron variant)	Deficiency of ferroxidase	GLikely benign
Select item 2056463	NM_000096.4(CP):c.2051C>T (p.Thr684Met)	CP (T684M)	Single nucleotide variant (missense variant)	Deficiency of ferroxidase +1 more	GUncertain significance
Select item 2051927	NM_000096.4(CP):c.909A>G (p.Ala303=)	CP	Single nucleotide variant (synonymous variant +1 more)	Deficiency of ferroxidase	GLikely benign
Select item 2050607	NM_000096.4(CP):c.1551T>C (p.Tyr517=)	CP	Single nucleotide variant (synonymous variant +1 more)	Deficiency of ferroxidase	GLikely benign
Select item 2047902	NM_000096.4(CP):c.694C>T (p.Leu232=)	CP	Single nucleotide variant (synonymous variant +1 more)	Deficiency of ferroxidase	GBenign
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 2046464	NM_000096.4(CP):c.1748C>T (p.Thr583Ile)	CP (T583I)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase +1 more	GUncertain significance
Select item 2041003	NM_000096.4(CP):c.2011C>T (p.Arg671Trp)	CP (R671W)	Single nucleotide variant (missense variant)	Deficiency of ferroxidase	GLikely benign
Select item 2038143	NM_000096.4(CP):c.678A>C (p.Glu226Asp)	CP (E226D)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase	GUncertain significance
Select item 2037130	NM_000096.4(CP):c.2554+19dup	CP	Duplication (intron variant)	Deficiency of ferroxidase	GBenign
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
Select item 2022953	NM_000096.4(CP):c.1467A>G (p.Thr489=)	CP	Single nucleotide variant (synonymous variant +1 more)	Deficiency of ferroxidase	GLikely benign
Select item 2021994	NM_000096.4(CP):c.1254C>T (p.Gly418=)	CP	Single nucleotide variant (synonymous variant +1 more)	Deficiency of ferroxidase	GLikely benign
Select item 2021701	NM_000096.4(CP):c.1019A>G (p.Asn340Ser)	CP (N340S)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase	GUncertain significance
Select item 2021153	NM_000096.4(CP):c.394+6T>C	CP	Single nucleotide variant (intron variant)	Deficiency of ferroxidase	GUncertain significance

<< First< Prev

Page of 5