Related gene-specific medical variations for Gene (Select 57758) - ClinVar

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Links from Gene

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3158792	NM_001367977.2(SCUBE2):c.958A>G (p.Thr320Ala)	NRIP3-DT, SCUBE2 (T320A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158790	NM_001367977.2(SCUBE2):c.762G>T (p.Glu254Asp)	NRIP3-DT, SCUBE2 (E254D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3158783	NM_001367977.2(SCUBE2):c.2819C>T (p.Ala940Val)	NRIP3-DT, SCUBE2 (A719V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158781	NM_001367977.2(SCUBE2):c.1991A>G (p.Glu664Gly)	NRIP3-DT, SCUBE2 (E509G +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3158780	NM_001367977.2(SCUBE2):c.1856G>T (p.Arg619Leu)	NRIP3-DT, SCUBE2 (R590L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158779	NM_001367977.2(SCUBE2):c.1844G>A (p.Arg615His)	NRIP3-DT, SCUBE2 (R460H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158778	NM_001367977.2(SCUBE2):c.1796C>T (p.Ala599Val)	NRIP3-DT, SCUBE2 (A599V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158777	NM_001367977.2(SCUBE2):c.1789G>C (p.Val597Leu)	NRIP3-DT, SCUBE2 (V568L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158776	NM_001367977.2(SCUBE2):c.1724G>A (p.Arg575Gln)	NRIP3-DT, SCUBE2 (R575Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3025436	NM_001367977.2(SCUBE2):c.2505C>T (p.Asn835=)	NRIP3-DT, SCUBE2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2641588	NM_001367977.2(SCUBE2):c.1990G>A (p.Glu664Lys)	NRIP3-DT, SCUBE2 (E509K +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2622817	NM_001367977.2(SCUBE2):c.2384G>A (p.Arg795Gln)	NRIP3-DT, SCUBE2 (R795Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620836	NM_001367977.2(SCUBE2):c.2947A>G (p.Ile983Val)	NRIP3-DT, SCUBE2 (I926V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609120	NM_001367977.2(SCUBE2):c.1655T>C (p.Val552Ala)	NRIP3-DT, SCUBE2 (V523A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602208	NM_001367977.2(SCUBE2):c.697G>A (p.Asp233Asn)	NRIP3-DT, SCUBE2 (D233N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2600355	NM_001367977.2(SCUBE2):c.2758G>A (p.Ala920Thr)	NRIP3-DT, SCUBE2 (A699T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569876	NM_001367977.2(SCUBE2):c.1900C>T (p.Leu634Phe)	NRIP3-DT, SCUBE2 (L605F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514760	NM_001367977.2(SCUBE2):c.1684A>C (p.Thr562Pro)	NRIP3-DT, SCUBE2 (T533P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514709	NM_001367977.2(SCUBE2):c.1685C>A (p.Thr562Lys)	NRIP3-DT, SCUBE2 (T533K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512564	NM_001367977.2(SCUBE2):c.884G>A (p.Arg295His)	NRIP3-DT, SCUBE2 (R295H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494888	NM_001367977.2(SCUBE2):c.1367G>A (p.Arg456His)	NRIP3-DT, SCUBE2 (R456H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2471744	NM_001367977.2(SCUBE2):c.2615C>A (p.Pro872His)	NRIP3-DT, SCUBE2 (P872H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470201	NM_001367977.2(SCUBE2):c.3049C>T (p.Arg1017Cys)	NRIP3-DT, SCUBE2 (R988C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457866	NM_001367977.2(SCUBE2):c.688G>A (p.Asp230Asn)	NRIP3-DT, SCUBE2 (D230N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2457635	NM_001367977.2(SCUBE2):c.1951C>T (p.Arg651Cys)	NRIP3-DT, SCUBE2 (R622C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457047	NM_001367977.2(SCUBE2):c.2623C>T (p.Arg875Cys)	NRIP3-DT, SCUBE2 (R846C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456929	NM_001367977.2(SCUBE2):c.1442C>T (p.Ser481Phe)	NRIP3-DT, SCUBE2 (S481F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410070	NM_001367977.2(SCUBE2):c.1007A>C (p.His336Pro)	NRIP3-DT, SCUBE2 (H336P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385394	NM_001367977.2(SCUBE2):c.1615G>A (p.Glu539Lys)	NRIP3-DT, SCUBE2 (E539K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364378	NM_001367977.2(SCUBE2):c.2369A>C (p.Asn790Thr)	NRIP3-DT, SCUBE2 (N790T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362757	NM_001367977.2(SCUBE2):c.1372T>G (p.Ser458Ala)	NRIP3-DT, SCUBE2 (S458A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347236	NM_001367977.2(SCUBE2):c.2614C>G (p.Pro872Ala)	NRIP3-DT, SCUBE2 (P815A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344721	NM_001367977.2(SCUBE2):c.839G>A (p.Arg280Gln)	NRIP3-DT, SCUBE2 (R280Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340784	NM_001367977.2(SCUBE2):c.1952G>C (p.Arg651Pro)	NRIP3-DT, SCUBE2 (R496P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290374	NM_001367977.2(SCUBE2):c.1688G>A (p.Cys563Tyr)	NRIP3-DT, SCUBE2 (C563Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267269	NM_001367977.2(SCUBE2):c.2944C>T (p.Leu982Phe)	NRIP3-DT, SCUBE2 (L761F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262719	NM_001367977.2(SCUBE2):c.1024G>A (p.Val342Met)	NRIP3-DT, SCUBE2 (V342M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242689	NM_001367977.2(SCUBE2):c.1133G>C (p.Cys378Ser)	NRIP3-DT, SCUBE2 (C378S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241879	NM_001367977.2(SCUBE2):c.1906G>A (p.Gly636Ser)	NRIP3-DT, SCUBE2 (G481S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235949	NM_001367977.2(SCUBE2):c.1802G>A (p.Cys601Tyr)	NRIP3-DT, SCUBE2 (C572Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229161	NM_001367977.2(SCUBE2):c.2587G>A (p.Glu863Lys)	NRIP3-DT, SCUBE2 (E806K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223787	NM_001367977.2(SCUBE2):c.3075A>T (p.Arg1025Ser)	NRIP3-DT, SCUBE2 (R1025S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211984	NM_001367977.2(SCUBE2):c.664G>A (p.Gly222Ser)	NRIP3-DT, SCUBE2 (G222S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210301	NM_001367977.2(SCUBE2):c.1670G>A (p.Arg557His)	NRIP3-DT, SCUBE2 (R557H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 795983	NM_001367977.2(SCUBE2):c.2854+1G>C	NRIP3-DT, SCUBE2	Single nucleotide variant (splice donor variant)	not provided	GLikely benign
Select item 545106	NM_001367977.2(SCUBE2):c.2057G>A (p.Cys686Tyr)	NRIP3-DT, SCUBE2 (C531Y +2 more)	Single nucleotide variant (missense variant +1 more)	Cerebral arteriovenous malformation	GLikely pathogenic

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Links from Gene

Items: 46