ClinVar for Gene (Select 9728) - ClinVar

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Links from Gene

Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234359	NM_001193489.2(SECISBP2L):c.3066A>T (p.Ser1022=)	SECISBP2L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3159434	NM_001193489.2(SECISBP2L):c.748G>T (p.Ala250Ser)	SECISBP2L (A250S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159433	NM_001193489.2(SECISBP2L):c.682G>A (p.Ala228Thr)	SECISBP2L (A228T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159432	NM_001193489.2(SECISBP2L):c.601A>G (p.Asn201Asp)	SECISBP2L (N201D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159430	NM_001193489.2(SECISBP2L):c.449G>A (p.Arg150His)	SECISBP2L (R150H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159429	NM_001193489.2(SECISBP2L):c.3167C>T (p.Pro1056Leu)	SECISBP2L (P1011L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159428	NM_001193489.2(SECISBP2L):c.3131A>G (p.Asn1044Ser)	SECISBP2L (N1044S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159427	NM_001193489.2(SECISBP2L):c.310A>G (p.Thr104Ala)	SECISBP2L (T104A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159426	NM_001193489.2(SECISBP2L):c.2818G>A (p.Ala940Thr)	SECISBP2L (A895T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159425	NM_001193489.2(SECISBP2L):c.2624A>G (p.Glu875Gly)	SECISBP2L (E875G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159424	NM_001193489.2(SECISBP2L):c.2528A>G (p.His843Arg)	SECISBP2L (H798R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159423	NM_001193489.2(SECISBP2L):c.186G>C (p.Gln62His)	SECISBP2L (Q62H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159422	NM_001193489.2(SECISBP2L):c.1630T>G (p.Cys544Gly)	SECISBP2L (C544G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159421	NM_001193489.2(SECISBP2L):c.1570G>A (p.Ala524Thr)	SECISBP2L (A479T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159420	NM_001193489.2(SECISBP2L):c.1540A>C (p.Thr514Pro)	SECISBP2L (T514P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159419	NM_001193489.2(SECISBP2L):c.148A>G (p.Ile50Val)	SECISBP2L (I50V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159418	NM_001193489.2(SECISBP2L):c.1141G>A (p.Asp381Asn)	SECISBP2L (D381N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159417	NM_001193489.2(SECISBP2L):c.1109A>G (p.Lys370Arg)	SECISBP2L (K370R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159415	NM_001193489.2(SECISBP2L):c.1103A>T (p.Asp368Val)	SECISBP2L (D368V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063396	GRCh37/hg19 15q21.1-21.2(chr15:49143050-50410530)x1	ATP8B4, COPS2 +7 more	Copy number loss	not specified	GUncertain significance
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 2624000	NM_001193489.2(SECISBP2L):c.670C>A (p.Pro224Thr)	SECISBP2L (P224T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609042	NM_001193489.2(SECISBP2L):c.940G>A (p.Val314Ile)	SECISBP2L (V314I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604923	NM_001193489.2(SECISBP2L):c.1626G>T (p.Gln542His)	SECISBP2L (Q497H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604085	NM_001193489.2(SECISBP2L):c.889A>G (p.Met297Val)	SECISBP2L (M297V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600483	NM_001193489.2(SECISBP2L):c.2096G>C (p.Ser699Thr)	SECISBP2L (S654T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518624	NM_001193489.2(SECISBP2L):c.581T>G (p.Val194Gly)	SECISBP2L (V194G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514819	NM_001193489.2(SECISBP2L):c.841A>C (p.Asn281His)	SECISBP2L (N281H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512598	NM_001193489.2(SECISBP2L):c.580G>T (p.Val194Leu)	SECISBP2L (V194L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509098	NM_001193489.2(SECISBP2L):c.77C>T (p.Pro26Leu)	SECISBP2L (P26L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507448	NM_001193489.2(SECISBP2L):c.97A>G (p.Met33Val)	SECISBP2L (M33V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463010	NM_001193489.2(SECISBP2L):c.891G>T (p.Met297Ile)	SECISBP2L (M297I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2460560	NM_001193489.2(SECISBP2L):c.98T>A (p.Met33Lys)	SECISBP2L (M33K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457317	NM_001193489.2(SECISBP2L):c.1637C>T (p.Thr546Ile)	SECISBP2L (T501I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455719	NM_001193489.2(SECISBP2L):c.3301A>G (p.Thr1101Ala)	SECISBP2L (T1101A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408717	NM_001193489.2(SECISBP2L):c.1834G>A (p.Asp612Asn)	SECISBP2L (D612N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399536	NM_001193489.2(SECISBP2L):c.379C>G (p.Pro127Ala)	SECISBP2L (P127A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370928	NM_001193489.2(SECISBP2L):c.484A>G (p.Ser162Gly)	SECISBP2L (S162G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370500	NM_001193489.2(SECISBP2L):c.559A>C (p.Lys187Gln)	SECISBP2L (K187Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358706	NM_001193489.2(SECISBP2L):c.3263A>G (p.Asn1088Ser)	SECISBP2L (N1043S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2335535	NM_001193489.2(SECISBP2L):c.2470G>A (p.Ala824Thr)	SECISBP2L (A824T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333968	NM_001193489.2(SECISBP2L):c.1814T>C (p.Met605Thr)	SECISBP2L (M560T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327747	NM_001193489.2(SECISBP2L):c.2906G>A (p.Arg969Gln)	SECISBP2L (R924Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318902	NM_001193489.2(SECISBP2L):c.1885A>G (p.Ser629Gly)	SECISBP2L (S584G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304617	NM_001193489.2(SECISBP2L):c.2989G>A (p.Glu997Lys)	SECISBP2L (E952K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299154	NM_001193489.2(SECISBP2L):c.1925A>G (p.Tyr642Cys)	SECISBP2L (Y597C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294530	NM_001193489.2(SECISBP2L):c.551T>C (p.Ile184Thr)	SECISBP2L (I184T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289084	NM_001193489.2(SECISBP2L):c.1452T>A (p.Asn484Lys)	SECISBP2L (N439K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268976	NM_001193489.2(SECISBP2L):c.79G>C (p.Asp27His)	SECISBP2L (D27H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267440	NM_001193489.2(SECISBP2L):c.500A>G (p.Asn167Ser)	SECISBP2L (N167S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261692	NM_001193489.2(SECISBP2L):c.544C>A (p.Gln182Lys)	SECISBP2L (Q182K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260828	NM_001193489.2(SECISBP2L):c.2797A>G (p.Thr933Ala)	SECISBP2L (T888A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253902	NM_001193489.2(SECISBP2L):c.2205G>C (p.Lys735Asn)	SECISBP2L (K735N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253419	NM_001193489.2(SECISBP2L):c.3143G>A (p.Ser1048Asn)	SECISBP2L (S1003N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220882	NM_001193489.2(SECISBP2L):c.1429T>A (p.Ser477Thr)	SECISBP2L (S432T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215290	NM_001193489.2(SECISBP2L):c.1052G>A (p.Arg351Gln)	SECISBP2L (R351Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204786	NM_001193489.2(SECISBP2L):c.3293C>T (p.Thr1098Met)	SECISBP2L (T1053M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807706	GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3	ADAM10, ALDH1A2 +82 more	Copy number gain	not provided	GPathogenic
Select item 1526455	GRCh37/hg19 15q21.1-21.2(chr15:48940736-51309941)	AP4E1, ATP8B4 +16 more	Copy number loss	not specified	GUncertain significance
Select item 1526453	GRCh37/hg19 15q21.1-21.3(chr15:47635238-56509908)	CEP152, COPS2 +52 more	Copy number loss	not specified	GPathogenic
Select item 1526451	GRCh37/hg19 15q21.1-21.2(chr15:47574384-50369056)	EID1, FAM227B +15 more	Copy number loss	not specified	GPathogenic
Select item 1526447	GRCh37/hg19 15q15.2-21.2(chr15:42850434-49592633)	BLOC1S6, C15orf48 +61 more	Copy number loss	not specified	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ARPIN-AP3S2, COMMD4 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 988929	GRCh37/hg19 15q21.1-21.3(chr15:48744917-53851050)x1	AP4E1, ARPP19 +35 more	Copy number loss	not provided	GPathogenic
Select item 815712	GRCh37/hg19 15q21.1-21.2(chr15:49142668-49514861)x3	COPS2, SHC4 +3 more	Copy number gain	not provided	GUncertain significance
Select item 815710	GRCh37/hg19 15q21.1-21.2(chr15:47192561-50819726)x1	ATP8B4, CEP152 +20 more	Copy number loss	not provided	GPathogenic
Select item 745125	NM_001193489.2(SECISBP2L):c.2541T>A (p.Ser847=)	SECISBP2L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 708329	NM_001193489.2(SECISBP2L):c.2460T>C (p.Asp820=)	SECISBP2L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688584	GRCh37/hg19 15q21.1-21.3(chr15:49031132-56740397)x3	AP4E1, ARPP19 +47 more	Copy number gain	not provided	GPathogenic
Select item 687840	GRCh37/hg19 15q21.1(chr15:49043112-49286126)x3	CEP152, EID1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 685183	GRCh37/hg19 15q21.1-22.2(chr15:48000433-60747551)x3	ADAM10, ALDH1A2 +76 more	Copy number gain	not provided	GPathogenic
Select item 564197	GRCh37/hg19 15q15.3-21.3(chr15:43759773-53252240)x1	AP4E1, ARPP19 +76 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 +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 395389	GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1	ADAL, AFG2B +107 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CSK, CSNK1G1 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	TRPM7, TSPAN3 +444 more	Copy number gain	See cases	GPathogenic
Select item 146334	GRCh38/hg38 15q21.1-21.2(chr15:47460844-52494222)x1	AP4E1, ATP8B4 +190 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 80