ClinVar for Gene (Select 4689) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3344660	NM_000631.5(NCF4):c.911C>T (p.Ala304Val)	NCF4 (A304V)	Single nucleotide variant (missense variant +1 more)	NCF4-related disorder	GUncertain significance
Select item 3182201	NM_000631.5(NCF4):c.736G>A (p.Glu246Lys)	NCF4 (E246K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182200	NM_000631.5(NCF4):c.721C>T (p.Arg241Cys)	NCF4 (R241C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182194	NM_000631.5(NCF4):c.682A>C (p.Lys228Gln)	NCF4 (K228Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025116	NM_000631.5(NCF4):c.906C>T (p.Asp302=)	NCF4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3016628	NM_000631.5(NCF4):c.459C>T (p.Arg153=)	NCF4	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 3015840	NM_000631.5(NCF4):c.408G>A (p.Ser136=)	NCF4	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 3013091	NM_000631.5(NCF4):c.627+9A>G	NCF4	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 3010583	NM_000631.5(NCF4):c.529-18C>T	NCF4	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 3009158	NM_000631.5(NCF4):c.32+13G>T	NCF4, NCF4-AS1	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 3006786	NM_000631.5(NCF4):c.369G>A (p.Val123=)	NCF4, NCF4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 3003945	NM_000631.5(NCF4):c.132G>A (p.Glu44=)	NCF4, NCF4-AS1	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 2999594	NM_000631.5(NCF4):c.750C>T (p.Ser250=)	NCF4	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 2998996	NM_000631.5(NCF4):c.471-17del	NCF4	Deletion (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GBenign
Select item 2964404	NM_000631.5(NCF4):c.759-71T>C	NCF4	Single nucleotide variant (synonymous variant +1 more)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 2962225	NM_000631.5(NCF4):c.758+64C>T	NCF4	Single nucleotide variant (synonymous variant +1 more)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 2912207	NM_000631.5(NCF4):c.498C>T (p.Ser166=)	NCF4	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 2910578	NM_000631.5(NCF4):c.529-12G>A	NCF4	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 2899435	NM_000631.5(NCF4):c.758+67A>G	NCF4	Single nucleotide variant (synonymous variant +1 more)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 2877524	NM_000631.5(NCF4):c.118-16C>A	NCF4, NCF4-AS1	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 2871617	NM_000631.5(NCF4):c.549A>C (p.Gly183=)	NCF4	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 2870940	NM_000631.5(NCF4):c.549A>G (p.Gly183=)	NCF4	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 2838902	NM_000631.5(NCF4):c.522A>C (p.Arg174Ser)	NCF4 (R174S)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 2836705	NM_000631.5(NCF4):c.272-19G>C	NCF4, NCF4-AS1	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 2834848	NM_000631.5(NCF4):c.759-24T>G	NCF4 (L327*)	Single nucleotide variant (nonsense +1 more)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GPathogenic
Select item 2828193	NM_000631.5(NCF4):c.456del (p.Arg153fs)	NCF4 (R153fs)	Deletion (frameshift variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GPathogenic
Select item 2824827	NM_000631.5(NCF4):c.272-8C>A	NCF4-AS1, NCF4	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 2810328	NM_000631.5(NCF4):c.222G>T (p.Gly74=)	NCF4, NCF4-AS1	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 2784742	NM_000631.5(NCF4):c.348G>A (p.Leu116=)	NCF4-AS1, NCF4	Single nucleotide variant (non-coding transcript variant +1 more)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 2781535	NM_000631.5(NCF4):c.759-38G>A	NCF4	Single nucleotide variant (synonymous variant +1 more)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 2763327	NM_000631.5(NCF4):c.117+18T>A	NCF4, NCF4-AS1	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 2762518	NM_000631.5(NCF4):c.367del (p.Val123fs)	NCF4, NCF4-AS1 (V123fs)	Deletion (non-coding transcript variant +1 more)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GPathogenic
Select item 2759642	NM_000631.5(NCF4):c.126C>A (p.Val42=)	NCF4, NCF4-AS1	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 2731458	NM_000631.5(NCF4):c.272-12G>T	NCF4, NCF4-AS1	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 2698711	NM_000631.5(NCF4):c.585T>C (p.Asp195=)	NCF4	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 2696736	NM_000631.5(NCF4):c.758+36_758+81del	NCF4 (F265fs)	Deletion (frameshift variant +1 more)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GPathogenic
Select item 2636889	NM_000631.5(NCF4):c.220G>C (p.Gly74Arg)	NCF4, NCF4-AS1 (G74R)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 +1 more	GUncertain significance
Select item 2632976	NM_000631.5(NCF4):c.446_454del (p.Arg149_Arg151del)	NCF4	Deletion (inframe_deletion +1 more)	NCF4-related disorder	GUncertain significance
Select item 2623987	NM_000631.5(NCF4):c.758+33C>T	NCF4 (A264V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2585469	NM_000631.5(NCF4):c.614_615del (p.Lys205fs)	NCF4 (K205fs)	Deletion (frameshift variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely pathogenic
Select item 2536972	NM_000631.5(NCF4):c.497G>T (p.Ser166Ile)	NCF4 (S166I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2504047	NM_000631.5(NCF4):c.471-1G>A	NCF4	Single nucleotide variant (splice acceptor variant)	Chronic granulomatous disease	GLikely pathogenic
Select item 2500063	NM_000631.5(NCF4):c.619T>C (p.Trp207Arg)	NCF4 (W207R)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 2461206	NM_000631.5(NCF4):c.173G>A (p.Arg58His)	NCF4, NCF4-AS1 (R58H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445745	NM_000631.5(NCF4):c.729C>A (p.Tyr243Ter)	NCF4 (Y243*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 2429240	NM_000631.5(NCF4):c.758+99_758+101delinsC	NCF4 (K286fs)	Indel (frameshift variant +1 more)	not specified	GUncertain significance
Select item 2429239	NM_000631.5(NCF4):c.759-40C>T	NCF4 (Q322*)	Single nucleotide variant (nonsense +1 more)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 +1 more	GConflicting classifications of pathogenicity
Select item 2424101	NC_000022.10:g.(?_37154355)_(39148633_?)del	ANKRD54, BAIAP2L2 +50 more	Deletion	Infantile neuroaxonal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	ACO2, ADSL +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2421680	NM_000631.5(NCF4):c.443G>A (p.Arg148His)	NCF4 (R148H)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 2421311	NM_000631.5(NCF4):c.446G>A (p.Arg149Gln)	NCF4 (R149Q)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 2417421	NM_000631.5(NCF4):c.301A>G (p.Ile101Val)	NCF4, NCF4-AS1 (I101V)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 2386708	NM_000631.5(NCF4):c.238A>G (p.Ser80Gly)	NCF4, NCF4-AS1 (S80G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2202042	NM_000631.5(NCF4):c.759-58C>T	NCF4 (H316Y)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2198294	NM_000631.5(NCF4):c.283G>A (p.Val95Met)	NCF4, NCF4-AS1 (V95M)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 2196360	NM_000631.5(NCF4):c.758+57_758+58inv	NCF4 (L272P)	Inversion (missense variant +1 more)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 2195220	NM_000631.5(NCF4):c.758+39T>C	NCF4 (L266P)	Single nucleotide variant (missense variant +1 more)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 2179348	NM_000631.5(NCF4):c.659C>T (p.Pro220Leu)	NCF4 (P220L)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 2171143	NM_000631.5(NCF4):c.118-6_118-4del	NCF4, NCF4-AS1	Microsatellite (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 2168913	NM_000631.5(NCF4):c.767C>T (p.Ala256Val)	NCF4 (R338W +1 more)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 2166608	NM_000631.5(NCF4):c.489G>A (p.Gln163=)	NCF4	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 2164419	NM_000631.5(NCF4):c.566T>C (p.Leu189Pro)	NCF4 (L189P)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 2162545	NM_000631.5(NCF4):c.617A>G (p.Asp206Gly)	NCF4 (D206G)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 2153688	NM_000631.5(NCF4):c.528+18G>A	NCF4	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 2151622	NM_000631.5(NCF4):c.88G>A (p.Glu30Lys)	NCF4, NCF4-AS1 (E30K)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 2147419	NM_000631.5(NCF4):c.526G>C (p.Glu176Gln)	NCF4 (E176Q)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 2146574	NM_000631.5(NCF4):c.758+117A>G	NCF4 (Q292R)	Single nucleotide variant (missense variant +1 more)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 2146434	NM_000631.5(NCF4):c.758+17G>C	NCF4 (G259R)	Single nucleotide variant (missense variant +1 more)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 2143785	NM_000631.5(NCF4):c.117+14C>G	NCF4, NCF4-AS1	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 2139968	NM_000631.5(NCF4):c.258G>A (p.Leu86=)	NCF4, NCF4-AS1	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GBenign
Select item 2139165	NM_000631.5(NCF4):c.669C>T (p.Phe223=)	NCF4	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 2137539	NM_000631.5(NCF4):c.51G>T (p.Pro17=)	NCF4, NCF4-AS1	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 2134104	NM_000631.5(NCF4):c.41A>G (p.Glu14Gly)	NCF4, NCF4-AS1 (E14G)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 2128430	NM_000631.5(NCF4):c.543C>T (p.Phe181=)	NCF4	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 2122875	NM_000631.5(NCF4):c.330C>A (p.Asn110Lys)	NCF4, NCF4-AS1 (N110K)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 2109743	NM_000631.5(NCF4):c.758+48T>C	NCF4 (L269P)	Single nucleotide variant (missense variant +1 more)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 2099410	NM_000631.5(NCF4):c.26C>G (p.Ala9Gly)	NCF4, NCF4-AS1 (A9G)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 2097889	NM_000631.5(NCF4):c.758+110G>A	NCF4 (G290S)	Single nucleotide variant (missense variant +1 more)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 2095049	NM_000631.5(NCF4):c.411C>T (p.Pro137=)	NCF4	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 2090753	NM_000631.5(NCF4):c.343-15G>C	NCF4, NCF4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 2085367	NM_000631.5(NCF4):c.758+28_758+29insA	NCF4 (P263fs)	Insertion (frameshift variant +1 more)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GPathogenic
Select item 2077644	NM_000631.5(NCF4):c.118-23_118-13del	NCF4, NCF4-AS1	Deletion (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 2076918	NM_000631.5(NCF4):c.759-43T>C	NCF4 (F321L)	Single nucleotide variant (missense variant +1 more)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 2068032	NM_000631.5(NCF4):c.758+23G>A	NCF4 (A261T)	Single nucleotide variant (missense variant +1 more)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 2065848	NM_000631.5(NCF4):c.342+12C>T	NCF4, NCF4-AS1	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 2063012	NM_000631.5(NCF4):c.101G>C (p.Gly34Ala)	NCF4, NCF4-AS1 (G34A)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 2057423	NM_000631.5(NCF4):c.759-121C>T	NCF4 (H295Y)	Single nucleotide variant (missense variant +1 more)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 2053906	NM_000631.5(NCF4):c.578C>G (p.Ala193Gly)	NCF4 (A193G)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 2053184	NM_000631.5(NCF4):c.648G>C (p.Thr216=)	NCF4	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 2052720	NM_000631.5(NCF4):c.470+5G>A	NCF4	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 2047959	NM_000631.5(NCF4):c.759-6C>G	NCF4 (P333R)	Single nucleotide variant (missense variant +1 more)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 2043506	NM_000631.5(NCF4):c.923G>A (p.Arg308Gln)	NCF4 (R308Q)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 2042440	NM_000631.5(NCF4):c.793C>T (p.Pro265Ser)	NCF4 (P265S)	Single nucleotide variant (missense variant +1 more)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 2040428	NM_000631.5(NCF4):c.758+16G>A	NCF4	Single nucleotide variant (synonymous variant +1 more)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 2030629	NM_000631.5(NCF4):c.758+106C>T	NCF4	Single nucleotide variant (synonymous variant +1 more)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 2022336	NM_000631.5(NCF4):c.271+9C>T	NCF4, NCF4-AS1	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 2011886	NM_000631.5(NCF4):c.780T>G (p.Asp260Glu)	NCF4 (D260E +1 more)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 2005385	NM_000631.5(NCF4):c.758+34C>T	NCF4	Single nucleotide variant (synonymous variant +1 more)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 2001526	NM_000631.5(NCF4):c.759-20C>G	NCF4	Single nucleotide variant (synonymous variant +1 more)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 1996324	NM_000631.5(NCF4):c.758+84C>G	NCF4 (S281C)	Single nucleotide variant (missense variant +1 more)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance

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