SPESP1[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 2595496	NM_145658.4(SPESP1):c.26C>T (p.Ala9Val)	SPESP1, NOX5 (A9V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2217160	NM_145658.4(SPESP1):c.161G>A (p.Arg54His)	NOX5, SPESP1 (R54H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2366592	NM_145658.4(SPESP1):c.188A>G (p.His63Arg)	NOX5, SPESP1 (H63R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2238674	NM_145658.4(SPESP1):c.264T>A (p.Asp88Glu)	SPESP1, NOX5 (D88E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2457888	NM_145658.4(SPESP1):c.272C>G (p.Thr91Ser)	NOX5, SPESP1 (T91S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2461727	NM_145658.4(SPESP1):c.299C>T (p.Thr100Ile)	NOX5, SPESP1 (T100I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2227346	NM_145658.4(SPESP1):c.331G>C (p.Gly111Arg)	NOX5, SPESP1 (G111R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2532019	NM_145658.4(SPESP1):c.354T>G (p.Ser118Arg)	NOX5, SPESP1 (S118R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2471775	NM_145658.4(SPESP1):c.521T>C (p.Val174Ala)	NOX5, SPESP1 (V174A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2220272	NM_145658.4(SPESP1):c.598C>G (p.Pro200Ala)	NOX5, SPESP1 (P200A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2540446	NM_145658.4(SPESP1):c.599C>A (p.Pro200His)	NOX5, SPESP1 (P200H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2592978	NM_145658.4(SPESP1):c.634G>A (p.Glu212Lys)	NOX5, SPESP1 (E212K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2333346	NM_145658.4(SPESP1):c.653C>T (p.Pro218Leu)	NOX5, SPESP1 (P218L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2368640	NM_145658.4(SPESP1):c.694G>T (p.Asp232Tyr)	NOX5, SPESP1 (D232Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2542316	NM_145658.4(SPESP1):c.734C>A (p.Thr245Asn)	NOX5, SPESP1 (T245N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2296808	NM_145658.4(SPESP1):c.902A>G (p.Asn301Ser)	NOX5, SPESP1 (N301S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 1809384	GRCh37/hg19 15q23(chr15:68807665-70981473)x3	ANP32A, CORO2B +8 more	Copy number gain	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 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

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Items: 31