Related gene-specific medical variations for Gene (Select 79400) - ClinVar

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Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 1807643	GRCh37/hg19 15q23(chr15:69255715-69347081)x1	NOX5	Copy number loss	not provided	GUncertain significance

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Links from Gene

Items: 25