ClinVar for MedGen (Select 383872) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243441	NC_000016.9:g.(?_88709946)_(88713408_?)del	CYBA	Deletion	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely pathogenic
Select item 3243440	NC_000016.9:g.(?_88713143)_(88717421_?)del	CYBA	Deletion	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GPathogenic
Select item 3243439	NC_000016.9:g.(?_88709761)_(88717421_?)del	CYBA	Deletion	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GPathogenic
Select item 3065668	NM_000101.4(CYBA):c.369+1G>T	CYBA	Single nucleotide variant (splice donor variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GPathogenic
Select item 3021802	NM_000101.4(CYBA):c.288-11C>G	CYBA	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 3018379	NM_000101.4(CYBA):c.558C>T (p.Asn186=)	CYBA	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 3016248	NM_000101.4(CYBA):c.287+14C>T	CYBA	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 3014125	NM_000101.4(CYBA):c.159G>A (p.Glu53=)	CYBA	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 3012924	NM_000101.4(CYBA):c.128+12C>T	CYBA	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 3008362	NM_000101.4(CYBA):c.103C>T (p.Gln35Ter)	CYBA (Q35*)	Single nucleotide variant (nonsense)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GPathogenic
Select item 2996723	NM_000101.4(CYBA):c.203+17T>G	CYBA	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2995771	NM_000101.4(CYBA):c.288-12G>T	CYBA	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2990035	NM_000101.4(CYBA):c.370-16del	CYBA	Deletion (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2982344	NM_000101.4(CYBA):c.196G>T (p.Glu66Ter)	CYBA (E66*)	Single nucleotide variant (nonsense)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GPathogenic
Select item 2981856	NM_000101.4(CYBA):c.492C>T (p.Arg164=)	CYBA	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2979963	NM_000101.4(CYBA):c.582C>T (p.Val194=)	CYBA	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2978690	NM_000101.4(CYBA):c.287+14C>A	CYBA	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2978652	NM_000101.4(CYBA):c.59-19G>A	CYBA	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2972817	NM_000101.4(CYBA):c.353G>A (p.Ser118Asn)	CYBA (S118N)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 2968090	NM_000101.4(CYBA):c.467del (p.Pro156fs)	CYBA (P156fs)	Deletion (frameshift variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GPathogenic
Select item 2962341	NM_000101.4(CYBA):c.204-20C>G	CYBA	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2918359	NM_000101.4(CYBA):c.138C>A (p.Gly46=)	CYBA	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2918115	NM_000101.4(CYBA):c.369+15C>G	CYBA	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2911638	NM_000101.4(CYBA):c.288-12G>A	CYBA	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2907500	NM_000101.4(CYBA):c.246_273del (p.Phe83fs)	CYBA (F83fs)	Deletion (frameshift variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GPathogenic
Select item 2907223	NM_000101.4(CYBA):c.203+16C>A	CYBA	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2905596	NM_000101.4(CYBA):c.129-20C>T	CYBA	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2904047	NM_000101.4(CYBA):c.204-18C>A	CYBA	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2897978	NM_000101.4(CYBA):c.58+15G>A	CYBA	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2894881	NM_000101.4(CYBA):c.58+20G>A	CYBA	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2893262	NM_000101.4(CYBA):c.385G>T (p.Glu129Ter)	CYBA (E129*)	Single nucleotide variant (nonsense)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely pathogenic
Select item 2892853	NM_000101.4(CYBA):c.58+19C>T	CYBA	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2889919	NM_000101.4(CYBA):c.287+18A>C	CYBA	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2887065	NM_000101.4(CYBA):c.288-1G>A	CYBA	Single nucleotide variant (splice acceptor variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely pathogenic
Select item 2883767	NM_000101.4(CYBA):c.59-13C>G	CYBA	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2882560	NM_000101.4(CYBA):c.128+17G>T	CYBA	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2876664	NM_000101.4(CYBA):c.288-17C>T	CYBA	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2869699	NM_000101.4(CYBA):c.192C>T (p.Thr64=)	CYBA	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2856052	NM_000101.4(CYBA):c.204-17C>A	CYBA	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2851585	NM_000101.4(CYBA):c.370-19A>C	CYBA	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2848429	NM_000101.4(CYBA):c.261C>T (p.Tyr87=)	CYBA	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2844916	NM_000101.4(CYBA):c.324C>T (p.Ile108=)	CYBA	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2844898	NM_000101.4(CYBA):c.58+20G>C	CYBA	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2838146	NM_000101.4(CYBA):c.402C>A (p.Ile134=)	CYBA	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2836380	NM_000101.4(CYBA):c.73G>C (p.Gly25Arg)	CYBA (G25R)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 2825954	NM_000101.4(CYBA):c.570G>T (p.Val190=)	CYBA	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2822368	NM_000101.4(CYBA):c.287+19C>T	CYBA	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2817163	NM_000101.4(CYBA):c.18G>A (p.Trp6Ter)	CYBA (W6*)	Single nucleotide variant (nonsense)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GPathogenic
Select item 2813650	NM_000101.4(CYBA):c.203+7C>T	CYBA	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2808992	NM_000101.4(CYBA):c.129-18T>C	CYBA	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2800515	NM_000101.4(CYBA):c.288-15C>T	CYBA	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2799774	NM_000101.4(CYBA):c.59-13C>T	CYBA	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2783799	NM_000101.4(CYBA):c.369+19G>A	CYBA	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2779922	NM_000101.4(CYBA):c.370-18C>T	CYBA	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2779507	NM_000101.4(CYBA):c.369+12C>T	CYBA	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2775671	NM_000101.4(CYBA):c.42G>A (p.Ala14=)	CYBA	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2775472	NM_000101.4(CYBA):c.128+17G>A	CYBA	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2771203	NM_000101.4(CYBA):c.369+18A>C	CYBA	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2766317	NM_000101.4(CYBA):c.204-10C>T	CYBA	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2757695	NM_000101.4(CYBA):c.84C>G (p.Ala28=)	CYBA	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2756458	NM_000101.4(CYBA):c.369+7G>A	CYBA	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2755870	NM_000101.4(CYBA):c.109dup (p.Tyr37fs)	CYBA (Y37fs)	Duplication (frameshift variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GPathogenic
Select item 2753354	NM_000101.4(CYBA):c.552G>A (p.Gln184=)	CYBA	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2742258	NM_000101.4(CYBA):c.203+14T>C	CYBA	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2739825	NM_000101.4(CYBA):c.213G>A (p.Lys71=)	CYBA	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2739747	NM_000101.4(CYBA):c.59-14A>C	CYBA	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2739231	NM_000101.4(CYBA):c.287+20C>T	CYBA	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2737828	NM_000101.4(CYBA):c.287+11G>A	CYBA	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2736377	NM_000101.4(CYBA):c.107G>A (p.Trp36Ter)	CYBA (W36*)	Single nucleotide variant (nonsense)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GPathogenic
Select item 2734433	NM_000101.4(CYBA):c.252C>T (p.Thr84=)	CYBA	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2732255	NM_000101.4(CYBA):c.58+10dup	CYBA	Duplication (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2727299	NM_000101.4(CYBA):c.171G>C (p.Gly57=)	CYBA	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2719208	NM_000101.4(CYBA):c.543A>C (p.Gly181=)	CYBA	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2711485	NM_000101.4(CYBA):c.222C>A (p.Thr74=)	CYBA	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2710838	NM_000101.4(CYBA):c.174G>A (p.Lys58=)	CYBA	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2704933	NM_000101.4(CYBA):c.370-13C>T	CYBA	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2702579	NM_000101.4(CYBA):c.58+11G>A	CYBA	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2699238	NM_000101.4(CYBA):c.287+20C>A	CYBA	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2698449	NM_000101.4(CYBA):c.58+2T>C	CYBA	Single nucleotide variant (splice donor variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely pathogenic
Select item 2422362	NC_000016.9:g.(?_87636753)_(90109753_?)dup	DPEP1, DEF8 +45 more	Duplication	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative +2 more	GUncertain significance
Select item 2419751	NM_000101.4(CYBA):c.541G>C (p.Gly181Arg)	CYBA (G181R)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative +1 more	GUncertain significance
Select item 2416781	NM_000101.4(CYBA):c.167G>A (p.Arg56Gln)	CYBA (R56Q)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 2340166	NM_000101.4(CYBA):c.41C>T (p.Ala14Val)	CYBA (A14V)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative +1 more	GUncertain significance
Select item 2201487	NM_000101.4(CYBA):c.204-17C>T	CYBA	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2199384	NM_000101.4(CYBA):c.204-19G>A	CYBA	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2190230	NM_000101.4(CYBA):c.479C>T (p.Pro160Leu)	CYBA (P160L)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 2176232	NM_000101.4(CYBA):c.350C>A (p.Ala117Glu)	CYBA (A117E)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 2173853	NM_000101.4(CYBA):c.184G>A (p.Gly62Ser)	CYBA (G62S)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 2173377	NM_000101.4(CYBA):c.425C>G (p.Pro142Arg)	CYBA (P142R)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 2171073	NM_000101.4(CYBA):c.179A>G (p.Lys60Arg)	CYBA (K60R)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 2169204	NM_000101.4(CYBA):c.235C>T (p.Leu79=)	CYBA	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2166669	NM_000101.4(CYBA):c.34G>A (p.Glu12Lys)	CYBA (E12K)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 2165915	NM_000101.4(CYBA):c.566C>T (p.Pro189Leu)	CYBA (P189L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2162267	NM_000101.4(CYBA):c.370-11G>A	CYBA	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 2161435	NM_000101.4(CYBA):c.355G>A (p.Gly119Ser)	CYBA (G119S)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 2156572	NM_000101.4(CYBA):c.241G>A (p.Gly81Arg)	CYBA (G81R)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 2154786	NM_000101.4(CYBA):c.287+13C>T	CYBA	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2150195	NM_000101.4(CYBA):c.287+16G>A	CYBA	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2149369	NM_000101.4(CYBA):c.488C>A (p.Ala163Asp)	CYBA (A163D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2146318	NM_000101.4(CYBA):c.229G>A (p.Val77Met)	CYBA (V77M)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance

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