ClinVar for Gene (Select 80274) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3158775	NM_173050.5(SCUBE1):c.931G>A (p.Gly311Ser)	SCUBE1 (G311S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158774	NM_173050.5(SCUBE1):c.772G>A (p.Asp258Asn)	SCUBE1 (D258N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158773	NM_173050.5(SCUBE1):c.716G>A (p.Arg239His)	SCUBE1 (R239H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158772	NM_173050.5(SCUBE1):c.391A>G (p.Ile131Val)	SCUBE1 (I131V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158770	NM_173050.5(SCUBE1):c.2650C>T (p.Arg884Cys)	SCUBE1 (R884C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158769	NM_173050.5(SCUBE1):c.2626G>A (p.Glu876Lys)	SCUBE1 (E876K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158768	NM_173050.5(SCUBE1):c.251A>G (p.Asn84Ser)	SCUBE1 (N84S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158767	NM_173050.5(SCUBE1):c.2459C>A (p.Ala820Asp)	SCUBE1 (A820D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158765	NM_173050.5(SCUBE1):c.2206G>A (p.Asp736Asn)	SCUBE1 (D736N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158764	NM_173050.5(SCUBE1):c.2131G>A (p.Glu711Lys)	SCUBE1 (E711K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158763	NM_173050.5(SCUBE1):c.2033G>A (p.Arg678His)	SCUBE1 (R678H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158762	NM_173050.5(SCUBE1):c.2011G>A (p.Gly671Arg)	SCUBE1 (G671R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158760	NM_173050.5(SCUBE1):c.1741G>A (p.Ala581Thr)	SCUBE1 (A581T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158759	NM_173050.5(SCUBE1):c.1570G>A (p.Val524Met)	SCUBE1 (V524M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158758	NM_173050.5(SCUBE1):c.156C>A (p.Asn52Lys)	SCUBE1 (N52K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158757	NM_173050.5(SCUBE1):c.1424G>A (p.Ser475Asn)	SCUBE1 (S475N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158756	NM_173050.5(SCUBE1):c.1397A>G (p.Asn466Ser)	SCUBE1 (N466S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158755	NM_173050.5(SCUBE1):c.1394G>A (p.Arg465His)	SCUBE1 (R465H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158754	NM_173050.5(SCUBE1):c.1244C>A (p.Pro415His)	SCUBE1 (P415H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158753	NM_173050.5(SCUBE1):c.1229G>A (p.Arg410His)	SCUBE1 (R410H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158752	NM_173050.5(SCUBE1):c.1220G>A (p.Cys407Tyr)	SCUBE1 (C407Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158751	NM_173050.5(SCUBE1):c.1204G>A (p.Val402Met)	SCUBE1 (V402M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158750	NM_173050.5(SCUBE1):c.1178G>A (p.Arg393Gln)	SCUBE1 (R393Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158749	NM_173050.5(SCUBE1):c.1022C>T (p.Pro341Leu)	SCUBE1 (P341L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158748	NM_173050.5(SCUBE1):c.100G>A (p.Val34Met)	SCUBE1 (V34M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062451	GRCh37/hg19 22q13.2-13.33(chr22:43107363-51156692)x1	A4GALT, ADM2 +78 more	Copy number loss	not specified	GPathogenic
Select item 3062450	GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	A4GALT, ACO2 +106 more	Copy number gain	not specified	GPathogenic
Select item 2684938	GRCh37/hg19 22q13.2(chr22:43225115-43777477)x3	ARFGAP3, BIK +6 more	Copy number gain	not provided	GUncertain significance
Select item 2653267	NM_173050.5(SCUBE1):c.1381G>T (p.Ala461Ser)	SCUBE1 (A461S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2624142	NM_173050.5(SCUBE1):c.1439C>G (p.Pro480Arg)	SCUBE1 (P480R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613488	NM_173050.5(SCUBE1):c.1606C>A (p.Arg536Ser)	SCUBE1 (R536S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590610	NM_173050.5(SCUBE1):c.77G>A (p.Ser26Asn)	SCUBE1 (S26N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554452	NM_173050.5(SCUBE1):c.2930G>A (p.Arg977His)	SCUBE1 (R977H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551477	NM_173050.5(SCUBE1):c.2473G>A (p.Val825Ile)	SCUBE1 (V825I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547810	NM_173050.5(SCUBE1):c.1092C>A (p.Asp364Glu)	SCUBE1 (D364E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539174	NM_173050.5(SCUBE1):c.913G>A (p.Glu305Lys)	SCUBE1 (E305K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533169	NM_173050.5(SCUBE1):c.1363C>A (p.Pro455Thr)	SCUBE1 (P455T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508288	NM_173050.5(SCUBE1):c.1465C>T (p.Arg489Cys)	SCUBE1 (R489C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467738	NM_173050.5(SCUBE1):c.1153G>A (p.Glu385Lys)	SCUBE1 (E385K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465175	NM_173050.5(SCUBE1):c.1439C>T (p.Pro480Leu)	SCUBE1 (P480L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405867	NM_173050.5(SCUBE1):c.554T>G (p.Val185Gly)	SCUBE1 (V185G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391845	NM_173050.5(SCUBE1):c.1132G>A (p.Val378Ile)	SCUBE1 (V378I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390941	NM_173050.5(SCUBE1):c.1159G>A (p.Val387Ile)	SCUBE1 (V387I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390529	NM_173050.5(SCUBE1):c.58G>C (p.Gly20Arg)	SCUBE1 (G20R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384888	NM_173050.5(SCUBE1):c.1994C>T (p.Pro665Leu)	SCUBE1 (P665L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376170	NM_173050.5(SCUBE1):c.1228C>T (p.Arg410Cys)	SCUBE1 (R410C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373930	NM_173050.5(SCUBE1):c.736G>A (p.Ala246Thr)	SCUBE1 (A246T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361851	NM_173050.5(SCUBE1):c.2038G>A (p.Val680Met)	SCUBE1 (V680M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361109	NM_173050.5(SCUBE1):c.2092A>G (p.Lys698Glu)	SCUBE1 (K698E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359519	NM_173050.5(SCUBE1):c.2249A>C (p.Asn750Thr)	SCUBE1 (N750T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342216	NM_173050.5(SCUBE1):c.2281G>A (p.Val761Ile)	SCUBE1 (V761I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338288	NM_173050.5(SCUBE1):c.2830A>G (p.Lys944Glu)	SCUBE1 (K944E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330471	NM_173050.5(SCUBE1):c.2392T>G (p.Cys798Gly)	SCUBE1 (C798G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288953	NM_173050.5(SCUBE1):c.487G>A (p.Gly163Ser)	SCUBE1 (G163S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281948	NM_173050.5(SCUBE1):c.1712G>A (p.Arg571Gln)	SCUBE1 (R571Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280006	NM_173050.5(SCUBE1):c.1835C>T (p.Ala612Val)	SCUBE1 (A612V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278783	NM_173050.5(SCUBE1):c.111C>G (p.Cys37Trp)	SCUBE1 (C37W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270164	NM_173050.5(SCUBE1):c.1709T>C (p.Leu570Ser)	SCUBE1 (L570S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254968	NM_173050.5(SCUBE1):c.2482A>G (p.Ile828Val)	SCUBE1 (I828V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253609	NM_173050.5(SCUBE1):c.4G>A (p.Gly2Ser)	SCUBE1 (G2S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251457	NM_173050.5(SCUBE1):c.2164G>A (p.Gly722Arg)	SCUBE1 (G722R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249088	NM_173050.5(SCUBE1):c.559T>G (p.Cys187Gly)	SCUBE1 (C187G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238510	NM_173050.5(SCUBE1):c.2299G>A (p.Glu767Lys)	SCUBE1 (E767K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227641	NM_173050.5(SCUBE1):c.476G>A (p.Arg159His)	SCUBE1 (R159H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226057	NM_173050.5(SCUBE1):c.2894A>G (p.Lys965Arg)	SCUBE1 (K965R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215168	NM_173050.5(SCUBE1):c.949G>A (p.Asp317Asn)	SCUBE1 (D317N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212748	NM_173050.5(SCUBE1):c.1375G>T (p.Gly459Cys)	SCUBE1 (G459C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211733	NM_173050.5(SCUBE1):c.1313C>G (p.Thr438Arg)	SCUBE1 (T438R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1803808	GRCh37/hg19 22q13.2-13.33(chr22:43436847-51188164)x3	MIOX, MPPED1 +76 more	Copy number gain	not provided	GPathogenic
Select item 1526741	GRCh37/hg19 22q13.2(chr22:43648038-43980420)	EFCAB6, MPPED1 +1 more	Copy number gain	not specified	GUncertain significance
Select item 1526739	GRCh37/hg19 22q13.2-13.31(chr22:43451316-46662660)	ARHGAP8, ATXN10 +33 more	Copy number loss	not specified	GPathogenic
Select item 1526738	GRCh37/hg19 22q13.2-13.33(chr22:42972719-51197838)	A4GALT, ACR +82 more	Copy number loss	not specified	GPathogenic
Select item 1341218	GRCh37/hg19 22q13.2(chr22:42955615-43866280)x1	A4GALT, ARFGAP3 +12 more	Copy number loss	not provided	GUncertain significance
Select item 1341047	GRCh37/hg19 22q13.2(chr22:43474124-44159427)x3	BIK, EFCAB6 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1330161	GRCh37/hg19 22q13.2-13.33(chr22:42321321-51244066)x1	A4GALT, ACR +96 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 1077183	Single allele	A4GALT, ARFGAP3 +19 more	Deletion	Developmental delay with variable intellectual impairment and behavioral abnormalities	GPathogenic
Select item 997819	Single allele	BIK, BRD1 +94 more	Deletion	Intellectual disability	GPathogenic
Select item 997811	Single allele	WBP2NL, ARFGAP3 +21 more	Deletion	Intellectual disability	GPathogenic
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 979609	GRCh37/hg19 22q13.2-13.31(chr22:43471921-44241041)x1	BIK, TSPO +7 more	Copy number loss	not provided	GUncertain significance
Select item 976862	NC_000022.11:g.43032129_50739836del	CRELD2, DENND6B +471 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 816565	GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3	A4GALT, ACO2 +126 more	Copy number gain	not provided	GPathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 790780	NM_173050.5(SCUBE1):c.2581+9G>A	SCUBE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 790779	NM_173050.5(SCUBE1):c.2582-5C>T	SCUBE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 784894	NM_173050.5(SCUBE1):c.1578C>G (p.Leu526=)	SCUBE1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 783892	NM_173050.5(SCUBE1):c.1158C>T (p.Cys386=)	SCUBE1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 726365	NM_173050.5(SCUBE1):c.1860C>T (p.Gly620=)	SCUBE1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 711783	NM_173050.5(SCUBE1):c.2018G>A (p.Gly673Asp)	SCUBE1 (G673D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 711047	NM_173050.5(SCUBE1):c.2418C>T (p.Thr806=)	SCUBE1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 685140	GRCh37/hg19 22q13.2(chr22:42724042-43879561)x3	A4GALT, ARFGAP3 +14 more	Copy number gain	not provided	GUncertain significance
Select item 625737	GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759)	A4GALT, ACR +92 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 565054	GRCh37/hg19 22q13.2-13.33(chr22:42955616-51183840)x1	A4GALT, ACR +83 more	Copy number loss	not provided	GPathogenic
Select item 565053	GRCh37/hg19 22q13.2-13.33(chr22:43111156-51183840)x1	A4GALT, ACR +79 more	Copy number loss	not provided	GPathogenic
Select item 565052	GRCh37/hg19 22q13.2-13.33(chr22:43320284-51183840)x1	ACR, ADM2 +77 more	Copy number loss	not provided	GPathogenic
Select item 564990	GRCh37/hg19 22q13.2(chr22:43472147-43723031)x3	TSPO, MCAT +4 more	Copy number gain	not provided	GLikely benign
Select item 443581	GRCh37/hg19 22q13.2-13.33(chr22:43050743-51197838)x1	A4GALT, ACR +79 more	Copy number loss	See cases	GPathogenic
Select item 441707	GRCh37/hg19 22q13.2-13.33(chr22:43381459-51197838)x1	ACR, ADM2 +77 more	Copy number loss	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic

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