"Ambry Genetics"[submitter] AND "SECISBP2L"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 3317187	NM_001193489.2(SECISBP2L):c.3217C>G (p.Gln1073Glu)	SECISBP2L (Q1028E +1 more)	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 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 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 3317190	NM_001193489.2(SECISBP2L):c.3004T>G (p.Tyr1002Asp)	SECISBP2L (Y957D +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 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 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 3317184	NM_001193489.2(SECISBP2L):c.2812T>G (p.Ser938Ala)	SECISBP2L (S893A +1 more)	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 3317186	NM_001193489.2(SECISBP2L):c.2794G>T (p.Ala932Ser)	SECISBP2L (A932S +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 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 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 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 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 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 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 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 3317185	NM_001193489.2(SECISBP2L):c.1765C>T (p.Arg589Cys)	SECISBP2L (R544C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317191	NM_001193489.2(SECISBP2L):c.1720G>A (p.Ala574Thr)	SECISBP2L (A529T +1 more)	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 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 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 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 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 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 3317195	NM_001193489.2(SECISBP2L):c.1279A>G (p.Ile427Val)	SECISBP2L (I382V +1 more)	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 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 2609042	NM_001193489.2(SECISBP2L):c.940G>A (p.Val314Ile)	SECISBP2L (V314I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317189	NM_001193489.2(SECISBP2L):c.915T>G (p.Cys305Trp)	SECISBP2L (C305W)	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 2604085	NM_001193489.2(SECISBP2L):c.889A>G (p.Met297Val)	SECISBP2L (M297V)	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 3317196	NM_001193489.2(SECISBP2L):c.835C>A (p.His279Asn)	SECISBP2L (H279N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2624000	NM_001193489.2(SECISBP2L):c.670C>A (p.Pro224Thr)	SECISBP2L (P224T)	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 2518624	NM_001193489.2(SECISBP2L):c.581T>G (p.Val194Gly)	SECISBP2L (V194G)	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 2370500	NM_001193489.2(SECISBP2L):c.559A>C (p.Lys187Gln)	SECISBP2L (K187Q)	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 2261692	NM_001193489.2(SECISBP2L):c.544C>A (p.Gln182Lys)	SECISBP2L (Q182K)	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 2370928	NM_001193489.2(SECISBP2L):c.484A>G (p.Ser162Gly)	SECISBP2L (S162G)	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 2399536	NM_001193489.2(SECISBP2L):c.379C>G (p.Pro127Ala)	SECISBP2L (P127A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317194	NM_001193489.2(SECISBP2L):c.330G>C (p.Gln110His)	SECISBP2L (Q110H)	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 3317193	NM_001193489.2(SECISBP2L):c.275C>A (p.Ala92Asp)	SECISBP2L (A92D)	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 3159419	NM_001193489.2(SECISBP2L):c.148A>G (p.Ile50Val)	SECISBP2L (I50V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2507448	NM_001193489.2(SECISBP2L):c.97A>G (p.Met33Val)	SECISBP2L (M33V)	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 2509098	NM_001193489.2(SECISBP2L):c.77C>T (p.Pro26Leu)	SECISBP2L (P26L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317192	NM_001193489.2(SECISBP2L):c.52C>G (p.Pro18Ala)	SECISBP2L (P18A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 66