ClinVar for Gene (Select 79400) - ClinVar

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Links from Gene

Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3201462	NM_024505.4(NOX5):c.865C>T (p.Leu289Phe)	NOX5 (L254F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201461	NM_024505.4(NOX5):c.715C>A (p.Leu239Met)	NOX5 (L211M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201460	NM_024505.4(NOX5):c.553A>G (p.Ile185Val)	NOX5 (I157V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201459	NM_024505.4(NOX5):c.2134C>T (p.Arg712Cys)	NOX5 (R677C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201458	NM_024505.4(NOX5):c.2023T>C (p.Tyr675His)	NOX5 (Y647H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201457	NM_024505.4(NOX5):c.2003G>A (p.Arg668His)	NOX5 (R633H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201456	NM_024505.4(NOX5):c.1649G>T (p.Gly550Val)	NOX5 (G522V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3201455	NM_024505.4(NOX5):c.1396C>A (p.Pro466Thr)	NOX5 (P466T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201454	NM_024505.4(NOX5):c.1325G>C (p.Arg442Pro)	LOC126862164, NOX5 (R407P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201453	NM_024505.4(NOX5):c.1222G>A (p.Val408Met)	LOC126862164, NOX5 (V373M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3201452	NM_024505.4(NOX5):c.1097C>T (p.Ser366Leu)	NOX5 (S338L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168972	NM_145658.4(SPESP1):c.419T>C (p.Ile140Thr)	NOX5, SPESP1 (I140T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168970	NM_145658.4(SPESP1):c.328A>G (p.Ile110Val)	NOX5, SPESP1 (I110V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168969	NM_145658.4(SPESP1):c.189T>G (p.His63Gln)	NOX5, SPESP1 (H63Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2645493	NM_024505.4(NOX5):c.1134C>A (p.Leu378=)	NOX5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2595496	NM_145658.4(SPESP1):c.26C>T (p.Ala9Val)	NOX5, SPESP1 (A9V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2592978	NM_145658.4(SPESP1):c.634G>A (p.Glu212Lys)	NOX5, SPESP1 (E212K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2588751	NM_024505.4(NOX5):c.1324C>T (p.Arg442Cys)	LOC126862164, NOX5 (R414C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560332	NM_024505.4(NOX5):c.1931G>A (p.Arg644Gln)	NOX5 (R616Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547261	NM_024505.4(NOX5):c.786C>G (p.Asp262Glu)	NOX5 (D234E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542316	NM_145658.4(SPESP1):c.734C>A (p.Thr245Asn)	NOX5, SPESP1 (T245N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541488	NM_024505.4(NOX5):c.1753G>T (p.Val585Leu)	NOX5 (V550L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540446	NM_145658.4(SPESP1):c.599C>A (p.Pro200His)	NOX5, SPESP1 (P200H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532019	NM_145658.4(SPESP1):c.354T>G (p.Ser118Arg)	NOX5, SPESP1 (S118R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529432	NM_024505.4(NOX5):c.292C>T (p.Leu98Phe)	NOX5 (L91F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521168	NM_024505.4(NOX5):c.86G>A (p.Arg29Gln)	NOX5 (R22Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2516621	NM_024505.4(NOX5):c.1393C>T (p.Arg465Trp)	NOX5 (R437W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	ISLR2, MESD +209 more	Copy number gain	not provided	GPathogenic
Select item 2471849	NM_024505.4(NOX5):c.2002C>T (p.Arg668Cys)	NOX5 (R633C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471775	NM_145658.4(SPESP1):c.521T>C (p.Val174Ala)	NOX5, SPESP1 (V174A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470756	NM_024505.4(NOX5):c.1322C>T (p.Ser441Phe)	LOC126862164, NOX5 (S413F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461727	NM_145658.4(SPESP1):c.299C>T (p.Thr100Ile)	NOX5, SPESP1 (T100I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457888	NM_145658.4(SPESP1):c.272C>G (p.Thr91Ser)	NOX5, SPESP1 (T91S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402098	NM_024505.4(NOX5):c.221G>A (p.Ser74Asn)	NOX5 (S67N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398356	NM_024505.4(NOX5):c.814G>C (p.Gly272Arg)	NOX5 (G237R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396333	NM_024505.4(NOX5):c.2261A>G (p.Glu754Gly)	NOX5 (E719G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396037	NM_024505.4(NOX5):c.2132C>T (p.Thr711Met)	NOX5 (T683M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393160	NM_024505.4(NOX5):c.2150G>A (p.Arg717Gln)	NOX5 (R717Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380485	NM_024505.4(NOX5):c.767C>T (p.Ala256Val)	NOX5 (A221V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368640	NM_145658.4(SPESP1):c.694G>T (p.Asp232Tyr)	NOX5, SPESP1 (D232Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366592	NM_145658.4(SPESP1):c.188A>G (p.His63Arg)	NOX5, SPESP1 (H63R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362390	NM_024505.4(NOX5):c.1774G>A (p.Gly592Ser)	NOX5 (G557S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361737	NM_024505.4(NOX5):c.281C>T (p.Pro94Leu)	NOX5 (P87L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358776	NM_024505.4(NOX5):c.2185G>A (p.Ala729Thr)	NOX5 (A701T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355165	NM_024505.4(NOX5):c.2135G>A (p.Arg712His)	NOX5 (R677H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351313	NM_024505.4(NOX5):c.437T>C (p.Leu146Pro)	NOX5 (L111P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333346	NM_145658.4(SPESP1):c.653C>T (p.Pro218Leu)	NOX5, SPESP1 (P218L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333023	NM_024505.4(NOX5):c.1141A>G (p.Met381Val)	NOX5 (M381V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332649	NM_024505.4(NOX5):c.1412A>G (p.Tyr471Cys)	NOX5 (Y436C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328372	NM_024505.4(NOX5):c.871C>T (p.Arg291Cys)	NOX5 (R256C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319214	NM_024505.4(NOX5):c.139C>G (p.Leu47Val)	NOX5 (L47V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319086	NM_024505.4(NOX5):c.1699A>G (p.Ile567Val)	NOX5 (I532V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296808	NM_145658.4(SPESP1):c.902A>G (p.Asn301Ser)	NOX5, SPESP1 (N301S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295519	NM_024505.4(NOX5):c.80G>C (p.Trp27Ser)	NOX5 (W27S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293707	NM_024505.4(NOX5):c.442A>G (p.Thr148Ala)	NOX5 (T148A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281315	NM_024505.4(NOX5):c.1487G>A (p.Ser496Asn)	NOX5 (S461N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281314	NM_024505.4(NOX5):c.1325G>A (p.Arg442His)	LOC126862164, NOX5 (R407H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266290	NM_024505.4(NOX5):c.1981G>T (p.Ala661Ser)	NOX5 (A626S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257488	NM_024505.4(NOX5):c.64G>A (p.Glu22Lys)	NOX5 (E15K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238674	NM_145658.4(SPESP1):c.264T>A (p.Asp88Glu)	NOX5, SPESP1 (D88E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227346	NM_145658.4(SPESP1):c.331G>C (p.Gly111Arg)	NOX5, SPESP1 (G111R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226475	NM_024505.4(NOX5):c.214G>A (p.Asp72Asn)	NOX5 (D72N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220272	NM_145658.4(SPESP1):c.598C>G (p.Pro200Ala)	NOX5, SPESP1 (P200A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217160	NM_145658.4(SPESP1):c.161G>A (p.Arg54His)	NOX5, SPESP1 (R54H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205501	NM_024505.4(NOX5):c.1753G>A (p.Val585Met)	NOX5 (V550M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809384	GRCh37/hg19 15q23(chr15:68807665-70981473)x3	ANP32A, CORO2B +8 more	Copy number gain	not provided	GUncertain significance
Select item 1807643	GRCh37/hg19 15q23(chr15:69255715-69347081)x1	NOX5	Copy number loss	not provided	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 791100	NM_024505.4(NOX5):c.290A>T (p.Lys97Ile)	NOX5 (K90I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 786273	NM_024505.4(NOX5):c.896C>T (p.Thr299Met)	NOX5 (T264M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 785499	NM_024505.4(NOX5):c.2275A>G (p.Arg759Gly)	NOX5 (R724G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 785498	NM_024505.4(NOX5):c.899G>A (p.Trp300Ter)	NOX5 (W265* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GBenign
Select item 743298	NM_024505.4(NOX5):c.130G>A (p.Glu44Lys)	NOX5 (E37K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 711523	NM_024505.4(NOX5):c.1899+7A>G	NOX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 685339	GRCh37/hg19 15q22.33-23(chr15:67369118-70481307)x1	AAGAB, ANP32A +19 more	Copy number loss	not provided	GPathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	GPR176, GRAMD2A +568 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	AAGAB, ABHD17C +446 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	SLC24A1, SLC28A1 +310 more	Copy number gain	not provided	GLikely pathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +279 more	Copy number gain	See cases	GPathogenic
Select item 221500	GRCh37/hg19 15q23(chr15:69079813-72040847)x3	THAP10, THSD4 +12 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057816, LOC130057817 +1763 more	Copy number gain	See cases	GPathogenic
Select item 59379	GRCh38/hg38 15q22.33-23(chr15:67194581-69086285)x1	AAGAB, ANP32A +73 more	Copy number loss	See cases	GPathogenic
Select item 57140	GRCh38/hg38 15q23-24.1(chr15:68830574-73823337)x1	ADPGK, ADPGK-AS1 +196 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 86