ClinVar for Gene (Select 1727) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369948	NM_000398.7(CYB5R3):c.403C>G (p.Gln135Glu)	CYB5R3 (Q112E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340198	NM_000398.7(CYB5R3):c.136C>T (p.Arg46Trp)	CYB5R3 (R23W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339212	NM_000398.7(CYB5R3):c.557C>G (p.Pro186Arg)	CYB5R3 (P163R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270464	NM_000398.7(CYB5R3):c.28C>T (p.His10Tyr)	CYB5R3 (H10Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3270463	NM_000398.7(CYB5R3):c.870C>G (p.His290Gln)	CYB5R3 (H267Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3270462	NM_000398.7(CYB5R3):c.102C>G (p.Ile34Met)	CYB5R3 (I67M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3248111	NC_000022.10:g.(?_42564659)_(43089957_?)dup	POLDIP3, A4GALT +6 more	Duplication	not provided	GUncertain significance
Select item 3235003	NM_000398.7(CYB5R3):c.440G>C (p.Gly147Ala)	CYB5R3 (G124A +2 more)	Single nucleotide variant (missense variant)	Deficiency of cytochrome-b5 reductase	GUncertain significance
Select item 3131804	NM_001165877.1(ATP5MGL):c.85G>A (p.Ala29Thr)	ATP5MGL, CYB5R3 (A29T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3131803	NM_001165877.1(ATP5MGL):c.80T>C (p.Leu27Ser)	ATP5MGL, CYB5R3 (L27S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131802	NM_001165877.1(ATP5MGL):c.79T>A (p.Leu27Met)	ATP5MGL, CYB5R3 (L27M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131801	NM_001165877.1(ATP5MGL):c.287G>C (p.Arg96Pro)	ATP5MGL, CYB5R3 (R96P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131800	NM_001165877.1(ATP5MGL):c.287G>A (p.Arg96His)	ATP5MGL, CYB5R3 (R96H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131799	NM_001165877.1(ATP5MGL):c.217G>A (p.Ala73Thr)	ATP5MGL, CYB5R3 (A73T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131798	NM_001165877.1(ATP5MGL):c.208G>A (p.Val70Ile)	ATP5MGL, CYB5R3 (V70I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131797	NM_001165877.1(ATP5MGL):c.139C>T (p.Pro47Ser)	ATP5MGL, CYB5R3 (P47S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131796	NM_001165877.1(ATP5MGL):c.139C>G (p.Pro47Ala)	ATP5MGL, CYB5R3 (P47A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079281	NM_000398.7(CYB5R3):c.862C>G (p.Leu288Val)	CYB5R3 (L321V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079279	NM_000398.7(CYB5R3):c.405G>C (p.Gln135His)	CYB5R3 (Q135H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079278	NM_000398.7(CYB5R3):c.235A>G (p.Ile79Val)	CYB5R3 (I112V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062450	GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	A4GALT, ACO2 +106 more	Copy number gain	not specified	GPathogenic
Select item 3053340	NM_000398.7(CYB5R3):c.333+2_333+3dup	CYB5R3	Duplication (splice donor variant)	CYB5R3-related disorder	GLikely benign
Select item 3024129	NM_000398.7(CYB5R3):c.906A>G (p.Ter302Trp)	CYB5R3	Single nucleotide variant (stop lost)	Hereditary methemoglobinemia	GUncertain significance
Select item 3015019	NM_000398.7(CYB5R3):c.807G>A (p.Pro269=)	CYB5R3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004176	NM_000398.7(CYB5R3):c.527G>A (p.Gly176Asp)	CYB5R3 (G176D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988725	NM_000398.7(CYB5R3):c.547+15C>T	CYB5R3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987143	NM_000398.7(CYB5R3):c.22-20C>T	CYB5R3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978341	NM_000398.7(CYB5R3):c.22-8C>T	CYB5R3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972131	NM_000398.7(CYB5R3):c.633+15C>T	CYB5R3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2969374	NM_000398.7(CYB5R3):c.464-19A>G	CYB5R3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966616	NM_000398.7(CYB5R3):c.153+16C>T	CYB5R3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2920939	NM_000398.7(CYB5R3):c.861C>G (p.Asn287Lys)	CYB5R3 (N320K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2920815	NM_000398.7(CYB5R3):c.21+4921G>C	CYB5R3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2916244	NM_000398.7(CYB5R3):c.846C>T (p.Tyr282=)	CYB5R3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2912788	NM_000398.7(CYB5R3):c.351C>T (p.Thr117=)	CYB5R3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2838054	NM_000398.7(CYB5R3):c.334-13G>C	CYB5R3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2819252	NM_000398.7(CYB5R3):c.159C>T (p.Ile53=)	CYB5R3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2731634	NM_000398.7(CYB5R3):c.775C>T (p.Arg259Trp)	CYB5R3 (R236W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2711933	NM_000398.7(CYB5R3):c.805C>A (p.Pro269Thr)	CYB5R3 (P302T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688907	NM_000398.7(CYB5R3):c.472G>A (p.Ala158Thr)	CYB5R3 (A135T +2 more)	Single nucleotide variant (missense variant)	Deficiency of cytochrome-b5 reductase	GUncertain significance
Select item 2688906	NM_000398.7(CYB5R3):c.694C>T (p.Arg232Cys)	CYB5R3 (R209C +2 more)	Single nucleotide variant (missense variant)	Deficiency of cytochrome-b5 reductase	GUncertain significance
Select item 2688905	NM_000398.7(CYB5R3):c.16A>G (p.Ser6Gly)	CYB5R3, LOC130067609 (S6G)	Single nucleotide variant (missense variant)	Deficiency of cytochrome-b5 reductase	GUncertain significance
Select item 2688904	NM_000398.7(CYB5R3):c.298G>A (p.Asp100Asn)	CYB5R3 (D100N +2 more)	Single nucleotide variant (missense variant)	Deficiency of cytochrome-b5 reductase	GUncertain significance
Select item 2664646	NM_000398.7(CYB5R3):c.508A>G (p.Arg170Gly)	CYB5R3 (R147G +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2653259	NM_001165877.1(ATP5MGL):c.300C>G (p.Gly100=)	ATP5MGL, CYB5R3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2633152	NM_000398.7(CYB5R3):c.394G>C (p.Glu132Gln)	CYB5R3 (E109Q +2 more)	Single nucleotide variant (missense variant)	CYB5R3-related disorder +2 more	GUncertain significance
Select item 2624054	NM_000398.7(CYB5R3):c.503T>G (p.Ile168Ser)	CYB5R3 (I168S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609741	NM_000398.7(CYB5R3):c.164A>G (p.His55Arg)	CYB5R3 (H32R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2585487	NM_000398.7(CYB5R3):c.702G>T (p.Lys234Asn)	CYB5R3 (K234N +2 more)	Single nucleotide variant (missense variant)	Deficiency of cytochrome-b5 reductase	GUncertain significance
Select item 2491603	NM_000398.7(CYB5R3):c.643G>A (p.Asp215Asn)	CYB5R3 (D248N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486529	NM_001165877.1(ATP5MGL):c.103A>G (p.Thr35Ala)	ATP5MGL, CYB5R3 (T35A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2440663	NM_000398.7(CYB5R3):c.796G>C (p.Glu266Gln)	CYB5R3 (E243Q +2 more)	Single nucleotide variant (missense variant)	Deficiency of cytochrome-b5 reductase	GUncertain significance
Select item 2440662	NM_000398.7(CYB5R3):c.182G>A (p.Arg61His)	CYB5R3 (R38H +2 more)	Single nucleotide variant (missense variant)	Deficiency of cytochrome-b5 reductase	GConflicting classifications of pathogenicity
Select item 2440661	NM_000398.7(CYB5R3):c.503T>C (p.Ile168Thr)	CYB5R3 (I145T +2 more)	Single nucleotide variant (missense variant)	Deficiency of cytochrome-b5 reductase	GUncertain significance
Select item 2440660	NM_000398.7(CYB5R3):c.149G>A (p.Arg50Gln)	CYB5R3 (R27Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2440659	NM_000398.7(CYB5R3):c.613C>T (p.His205Tyr)	CYB5R3 (H182Y +2 more)	Single nucleotide variant (missense variant)	Deficiency of cytochrome-b5 reductase	GUncertain significance
Select item 2440658	NM_000398.7(CYB5R3):c.130C>T (p.Pro44Ser)	CYB5R3 (P21S +2 more)	Single nucleotide variant (missense variant)	Deficiency of cytochrome-b5 reductase	GUncertain significance
Select item 2440657	NM_000398.7(CYB5R3):c.1A>G (p.Met1Val)	CYB5R3, LOC130067609 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2430191	NM_000398.7(CYB5R3):c.274C>T (p.Arg92Trp)	CYB5R3 (R125W +2 more)	Single nucleotide variant (missense variant)	Deficiency of cytochrome-b5 reductase	GLikely pathogenic
Select item 2425394	NC_000022.10:g.(?_42456283)_(43089957_?)del	A4GALT, ATP5MGL +11 more	Deletion	not provided	GPathogenic
Select item 2423027	NC_000022.10:g.(?_43015779)_(43024307_?)del	CYB5R3	Deletion	not provided	GPathogenic
Select item 2423026	NC_000022.10:g.(?_43015779)_(43015971_?)del	CYB5R3	Deletion	not provided	GPathogenic
Select item 2421486	NM_000398.7(CYB5R3):c.577G>A (p.Ala193Thr)	CYB5R3 (A170T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2416041	NM_000398.7(CYB5R3):c.463+7C>T	CYB5R3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2390021	NM_000398.7(CYB5R3):c.436A>G (p.Ser146Gly)	CYB5R3 (S123G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358851	NM_000398.7(CYB5R3):c.245C>T (p.Ser82Leu)	CYB5R3 (S115L +2 more)	Single nucleotide variant (missense variant)	Deficiency of cytochrome-b5 reductase +1 more	GUncertain significance
Select item 2290705	NM_000398.7(CYB5R3):c.161G>A (p.Ser54Asn)	CYB5R3 (S87N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285502	NM_000398.7(CYB5R3):c.33G>A (p.Met11Ile)	CYB5R3 (M44I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2268002	NM_000398.7(CYB5R3):c.536C>T (p.Ala179Val)	CYB5R3 (A156V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240963	NM_000398.7(CYB5R3):c.482C>G (p.Pro161Arg)	CYB5R3 (P161R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232028	NM_000398.7(CYB5R3):c.333+5A>G	CYB5R3	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2230028	NM_000398.7(CYB5R3):c.194C>G (p.Pro65Arg)	CYB5R3 (P98R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2191033	NM_000398.7(CYB5R3):c.479G>A (p.Arg160Gln)	CYB5R3 (R193Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2185889	NM_000398.7(CYB5R3):c.63T>A (p.Ser21Arg)	CYB5R3 (S21R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2182150	NM_000398.7(CYB5R3):c.744C>T (p.Tyr248=)	CYB5R3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2175155	NM_000398.7(CYB5R3):c.144C>T (p.Ile48=)	CYB5R3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2173190	NM_000398.7(CYB5R3):c.116C>G (p.Pro39Arg)	CYB5R3 (P16R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2166913	NM_000398.7(CYB5R3):c.870C>T (p.His290=)	CYB5R3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2138455	NM_000398.7(CYB5R3):c.176G>A (p.Arg59His)	CYB5R3 (R92H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2138454	NM_000398.7(CYB5R3):c.433C>T (p.Pro145Ser)	CYB5R3 (P145S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2138453	NM_000398.7(CYB5R3):c.434C>T (p.Pro145Leu)	CYB5R3 (P178L +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2124295	NM_000398.7(CYB5R3):c.463+20C>G	CYB5R3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2110561	NM_000398.7(CYB5R3):c.587A>G (p.Lys196Arg)	CYB5R3 (K173R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2050662	NM_000398.7(CYB5R3):c.367G>A (p.Ala123Thr)	CYB5R3 (A156T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2048306	NM_000398.7(CYB5R3):c.408T>G (p.Ile136Met)	CYB5R3 (I169M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2033007	NM_000398.7(CYB5R3):c.227-14G>A	CYB5R3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2014758	NM_000398.7(CYB5R3):c.435C>T (p.Pro145=)	CYB5R3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1988299	NM_000398.7(CYB5R3):c.334-15G>A	CYB5R3	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1970723	NM_000398.7(CYB5R3):c.10C>T (p.Gln4Ter)	CYB5R3, LOC130067609 (Q4*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1961897	NM_000398.7(CYB5R3):c.634-4G>A	CYB5R3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1959546	NM_000398.7(CYB5R3):c.69C>T (p.Leu23=)	CYB5R3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1951286	NM_000398.7(CYB5R3):c.131C>T (p.Pro44Leu)	CYB5R3 (P44L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1941362	NM_000398.7(CYB5R3):c.548-12G>T	CYB5R3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1939142	NM_000398.7(CYB5R3):c.830C>T (p.Pro277Leu)	CYB5R3 (P310L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1935583	NM_000398.7(CYB5R3):c.634-19C>T	CYB5R3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1929290	NM_000398.7(CYB5R3):c.547+18C>T	CYB5R3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1925831	NM_000398.7(CYB5R3):c.22-7G>A	CYB5R3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1918313	NM_000398.7(CYB5R3):c.633+17A>G	CYB5R3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1916672	NM_000398.7(CYB5R3):c.334-16C>T	CYB5R3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1915912	NM_000398.7(CYB5R3):c.547+12C>A	CYB5R3	Single nucleotide variant (intron variant)	not provided	GLikely benign

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