ClinVar for Gene (Select 57758) - ClinVar

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Links from Gene

Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242315	GRCh37/hg19 11p15.4(chr11:8548056-10497905)x3	ADM, AKIP1 +18 more	Copy number gain	not provided	GUncertain significance
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 3158789	NM_001367977.2(SCUBE2):c.532A>G (p.Met178Val)	SCUBE2 (M178V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158787	NM_001367977.2(SCUBE2):c.508C>T (p.Arg170Cys)	SCUBE2 (R170C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158786	NM_001367977.2(SCUBE2):c.436G>T (p.Val146Phe)	SCUBE2 (V146F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158785	NM_001367977.2(SCUBE2):c.300T>A (p.His100Gln)	SCUBE2 (H100Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158784	NM_001367977.2(SCUBE2):c.285T>G (p.Asn95Lys)	SCUBE2 (N95K)	Single nucleotide variant (missense variant)	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 3158782	NM_001367977.2(SCUBE2):c.235G>A (p.Gly79Arg)	SCUBE2 (G79R)	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 2641589	NM_001367977.2(SCUBE2):c.285T>C (p.Asn95=)	SCUBE2	Single nucleotide variant (synonymous variant)	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 2617704	NM_001367977.2(SCUBE2):c.367G>A (p.Gly123Ser)	SCUBE2 (G123S)	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 2588843	NM_001367977.2(SCUBE2):c.329G>A (p.Arg110His)	SCUBE2 (R110H)	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 2509434	NM_001367977.2(SCUBE2):c.410G>A (p.Gly137Asp)	SCUBE2 (G137D)	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 2426103	NC_000011.9:g.(?_9091245)_(9225884_?)dup	DENND5A, SCUBE2	Duplication	not provided	GUncertain significance
Select item 2426098	NC_000011.9:g.(?_9091245)_(9286616_?)del	DENND5A, SCUBE2	Deletion	not provided	GPathogenic
Select item 2411083	NM_001367977.2(SCUBE2):c.322A>G (p.Asn108Asp)	SCUBE2 (N108D)	Single nucleotide variant (missense variant)	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 2346783	NM_001367977.2(SCUBE2):c.59T>A (p.Leu20Gln)	SCUBE2 (L20Q)	Single nucleotide variant (missense variant)	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 2303949	NM_001367977.2(SCUBE2):c.26C>T (p.Pro9Leu)	SCUBE2 (P9L)	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 2289780	NM_001367977.2(SCUBE2):c.530G>A (p.Cys177Tyr)	SCUBE2 (C177Y)	Single nucleotide variant (missense variant)	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 2244918	NM_001367977.2(SCUBE2):c.533T>A (p.Met178Lys)	SCUBE2 (M178K)	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 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	ART1, CD81 +308 more	Copy number gain	See cases	GPathogenic
Select item 815409	GRCh37/hg19 11p15.4(chr11:8859352-9226956)x3	ASCL3, AKIP1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CCKBR, OR56A4 +343 more	Copy number gain	not provided	GPathogenic
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 768423	NM_001367977.2(SCUBE2):c.459C>T (p.Cys153=)	SCUBE2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 720319	NM_001367977.2(SCUBE2):c.546C>T (p.His182=)	SCUBE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 685917	GRCh37/hg19 11p15.4(chr11:9030650-9204244)x1	DENND5A, SCUBE2	Copy number loss	not provided	GUncertain significance
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	ADM, AKIP1 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	RASSF10, RASSF7 +258 more	Copy number gain	not provided	GPathogenic
Select item 563880	GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3	OR2AG2, OR2D2 +222 more	Copy number gain	not provided	GPathogenic
Select item 563871	GRCh37/hg19 11p15.4(chr11:6969013-9257231)x3	ZNF214, NLRP10 +28 more	Copy number gain	not provided	GPathogenic
Select item 563868	GRCh37/hg19 11p15.4(chr11:7837338-9295428)x3	TRIM66, STK33 +18 more	Copy number gain	not provided	GUncertain significance
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
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	ABCC8, ADM +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ABCC8, ADM +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	OR2AG2, OR2D2 +364 more	Copy number gain	See cases	GPathogenic
Select item 395012	GRCh37/hg19 11p15.4(chr11:8902282-9200052)x3	NRIP3, AKIP1 +6 more	Copy number gain	See cases	GUncertain significance
Select item 221477	GRCh37/hg19 11p15.4(chr11:9042668-9165735)x3	DENND5A, SCUBE2	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 155423	GRCh38/hg38 11p15.4(chr11:7995676-10437205)x3	ADM, ADM-DT +135 more	Copy number gain	See cases	GUncertain significance
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	LOC130005128, LOC130005129 +723 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	CHID1, CHRNA10 +917 more	Copy number gain	See cases	GPathogenic

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Items: 85