CYBA[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059466, LOC130059467 +1738 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	ACD, ACSF3 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC130059153, LOC130059154 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	HSBP1, HSD17B2 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	ACSF3, ADAD2 +1031 more	Copy number gain	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC400553, LOC654780 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	ACSF3, ADAD2 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	LINC01081, LINC01082 +781 more	Copy number gain	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	ACSF3, ADAD2 +719 more	Copy number gain	See cases	GPathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	ACSF3, ADAD2 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	ACSF3, ADAD2 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	ACSF3, ADAD2 +670 more	Copy number gain	See cases	GPathogenic
Select item 58648	GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	LINC00917, LINC01081 +566 more	Copy number gain	See cases	GPathogenic
Select item 148918	GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3	LOC130059799, LOC130059800 +531 more	Copy number gain	See cases	GLikely pathogenic
Select item 146355	GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	ACSF3, ADAD2 +534 more	Copy number gain	See cases	GLikely pathogenic
Select item 150862	GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3	ACSF3, ANKRD11 +420 more	Copy number gain	See cases	GPathogenic
Select item 155557	GRCh38/hg38 16q24.1-24.3(chr16:86950106-89335814)x1	ACSF3, ANKRD11 +210 more	Copy number loss	See cases	GPathogenic
Select item 2503467	Single allele	LOC121587566, LOC121587567 +218 more	Deletion	KBG syndrome	GPathogenic
Select item 59520	GRCh38/hg38 16q24.2-24.3(chr16:87306529-89269079)x1	ACSF3, ANKRD11 +196 more	Copy number loss	See cases	GPathogenic
Select item 149103	GRCh38/hg38 16q24.2-24.3(chr16:87848216-90096995)x3	ACSF3, ANKRD11 +268 more	Copy number gain	See cases	GLikely pathogenic
Select item 58651	GRCh38/hg38 16q24.2-24.3(chr16:87853401-90081985)x3	ACSF3, ANKRD11 +267 more	Copy number gain	See cases	GPathogenic
Select item 59521	GRCh38/hg38 16q24.2-24.3(chr16:88159660-89506042)x1	ACSF3, ANKRD11 +160 more	Copy number loss	See cases	GPathogenic
Select item 2503468	Single allele	LOC130059772, LOC130059773 +138 more	Deletion	KBG syndrome	GPathogenic
Select item 2503469	Single allele	ACSF3, ANKRD11 +116 more	Deletion	KBG syndrome	GPathogenic
Select item 59538	GRCh38/hg38 16q24.2-24.3(chr16:88640116-89530475)x1	LOC130059760, LOC130059761 +129 more	Copy number loss	See cases	GPathogenic
Select item 1172927	NM_000101.4(CYBA):c.*49T>C	CYBA	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GBenign
Select item 1166946	NM_000101.4(CYBA):c.*24G>A	CYBA	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GBenign
Select item 646964	NC_000016.9:g.(?_88709737)_(88718353_?)dup	CYBA, LOC130059739 +1 more	Duplication	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 958752	NM_000101.4(CYBA):c.583G>A (p.Val195Met)	CYBA (V195M)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
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 844416	NM_000101.4(CYBA):c.577G>A (p.Glu193Lys)	CYBA (E193K)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 762637	NM_000101.4(CYBA):c.576C>T (p.Asp192=)	CYBA	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2093579	NM_000101.4(CYBA):c.574G>T (p.Asp192Tyr)	CYBA (D192Y)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 1437452	NM_000101.4(CYBA):c.574G>A (p.Asp192Asn)	CYBA (D192N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 948436	NM_000101.4(CYBA):c.574G>C (p.Asp192His)	CYBA (D192H)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 1552989	NM_000101.4(CYBA):c.573C>T (p.Thr191=)	CYBA	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
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 859385	NM_000101.4(CYBA):c.567G>A (p.Pro189=)	CYBA	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative +1 more	GLikely benign
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 1091456	NM_000101.4(CYBA):c.566C>G (p.Pro189Arg)	CYBA (P189R)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 1142806	NM_000101.4(CYBA):c.564C>A (p.Ile188=)	CYBA	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 1099006	NM_000101.4(CYBA):c.564C>T (p.Ile188=)	CYBA	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1118804	NM_000101.4(CYBA):c.561C>T (p.Pro187=)	CYBA	Single nucleotide variant (synonymous 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 1538217	NM_000101.4(CYBA):c.555C>A (p.Val185=)	CYBA	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 1010892	NM_000101.4(CYBA):c.553G>A (p.Val185Ile)	CYBA (V185I)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
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 534663	NM_000101.4(CYBA):c.549C>G (p.Pro183=)	CYBA	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 1416070	NM_000101.4(CYBA):c.548C>G (p.Pro183Arg)	CYBA (P183R)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
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 2419751	NM_000101.4(CYBA):c.541G>C (p.Gly181Arg)	CYBA (G181R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1983563	NM_000101.4(CYBA):c.539dup (p.Gly182fs)	CYBA (G182fs)	Duplication (frameshift variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 1095032	NM_000101.4(CYBA):c.540G>A (p.Pro180=)	CYBA	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 936950	NM_000101.4(CYBA):c.539C>T (p.Pro180Leu)	CYBA (P180L)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 649833	NM_000101.4(CYBA):c.539C>G (p.Pro180Arg)	CYBA (P180R)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 1629688	NM_000101.4(CYBA):c.537C>T (p.Pro179=)	CYBA	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 989972	NM_000101.4(CYBA):c.531G>A (p.Gly177=)	CYBA	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2607216	NM_000101.4(CYBA):c.530G>C (p.Gly177Ala)	CYBA (G177A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 418151	NM_000101.4(CYBA):c.524CGG[3] (p.Ala176dup)	CYBA	Microsatellite (inframe_insertion)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1664240	NM_000101.4(CYBA):c.528G>C (p.Ala176=)	CYBA	Single nucleotide variant (synonymous variant)	CYBA-related condition +1 more	GLikely benign
Select item 1134192	NM_000101.4(CYBA):c.528G>A (p.Ala176=)	CYBA	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GConflicting classifications of pathogenicity
Select item 642309	NM_000101.4(CYBA):c.527C>T (p.Ala176Val)	CYBA (A176V)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 765224	NM_000101.4(CYBA):c.525G>A (p.Ala175=)	CYBA	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 1494840	NM_000101.4(CYBA):c.524C>T (p.Ala175Val)	CYBA (A175V)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 1562418	NM_000101.4(CYBA):c.522G>A (p.Val174=)	CYBA	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 1125309	NM_000101.4(CYBA):c.521_522inv (p.Val174Ala)	CYBA (V174A)	Inversion (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 2691531	NM_000101.4(CYBA):c.521delinsCGGC (p.Val174delinsAlaAla)	CYBA	Indel (inframe_indel)	not specified	GUncertain significance
Select item 198042	NM_000101.4(CYBA):c.521T>C (p.Val174Ala)	CYBA (V174A)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1129628	NM_000101.4(CYBA):c.519G>A (p.Ala173=)	CYBA	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 989973	NM_000101.4(CYBA):c.516T>G (p.Ala172=)	CYBA	Single nucleotide variant (synonymous variant)	Chronic granulomatous disease	GUncertain significance
Select item 989974	NM_000101.4(CYBA):c.515C>G (p.Ala172Gly)	CYBA (A172G)	Single nucleotide variant (missense variant)	Chronic granulomatous disease	GUncertain significance
Select item 1377389	NM_000101.4(CYBA):c.511G>T (p.Glu171Ter)	CYBA (E171*)	Single nucleotide variant (nonsense)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 851807	NM_000101.4(CYBA):c.505G>A (p.Glu169Lys)	CYBA (E169K)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 2140087	NM_000101.4(CYBA):c.504C>T (p.Ser168=)	CYBA	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 1112778	NM_000101.4(CYBA):c.498G>A (p.Lys166=)	CYBA	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 754807	NM_000101.4(CYBA):c.495G>A (p.Lys165=)	CYBA	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
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 452090	NM_000101.4(CYBA):c.491G>A (p.Arg164His)	CYBA (R164H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2383641	NM_000101.4(CYBA):c.490C>T (p.Arg164Cys)	CYBA (R164C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1466393	NM_000101.4(CYBA):c.478_490del (p.Pro160fs)	CYBA (P160fs)	Deletion (frameshift variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 2149369	NM_000101.4(CYBA):c.488C>A (p.Ala163Asp)	CYBA (A163D)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 858015	NM_000101.4(CYBA):c.486G>C (p.Glu162Asp)	CYBA (E162D)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 1494695	NM_000101.4(CYBA):c.472_484del (p.Pro160fs)	CYBA (P160fs)	Deletion (frameshift variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative +1 more	GConflicting classifications of pathogenicity
Select item 2106647	NM_000101.4(CYBA):c.482_483insGAGGGGGCCCCCGGCGAGGGGGCCCCCGG (p.Glu162fs)	CYBA (E162fs)	Insertion (frameshift variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 765047	NM_000101.4(CYBA):c.483C>T (p.Ala161=)	CYBA	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 284654	NM_000101.4(CYBA):c.480G>A (p.Pro160=)	CYBA	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
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 1507696	NM_000101.4(CYBA):c.467_479del (p.Pro156fs)	CYBA (P156fs)	Deletion (frameshift variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 864020	NM_000101.4(CYBA):c.479C>G (p.Pro160Arg)	CYBA (P160R)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 1045101	NM_000101.4(CYBA):c.476C>T (p.Pro159Leu)	CYBA (P159L)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 638954	NM_000101.4(CYBA):c.475C>T (p.Pro159Ser)	CYBA (P159S)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 1466671	NM_000101.4(CYBA):c.472C>T (p.Arg158Trp)	CYBA (R158W)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 1088479	NM_000101.4(CYBA):c.471G>A (p.Pro157=)	CYBA	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 1977314	NM_000101.4(CYBA):c.467dup (p.Pro157fs)	CYBA (P157fs)	Duplication (frameshift variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 1107015	NM_000101.4(CYBA):c.468G>A (p.Pro156=)	CYBA	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 793211	NM_000101.4(CYBA):c.468G>C (p.Pro156=)	CYBA	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
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 1359256	NM_000101.4(CYBA):c.467C>T (p.Pro156Leu)	CYBA (P156L)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 2260	NM_000101.4(CYBA):c.467C>A (p.Pro156Gln)	CYBA (P156Q)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GPathogenic

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