CRYZL2P-SEC16B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 148038	GRCh38/hg38 1q24.2-25.2(chr1:169218236-178075834)x1	ANKRD45, ASTN1 +239 more	Copy number loss	See cases	GPathogenic
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932082, LOC129932083 +561 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	See cases	GPathogenic
Select item 57510	GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1	ABL2, ACBD6 +347 more	Copy number loss	See cases	GPathogenic
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	MIR488, MR1 +456 more	Copy number loss	See cases	GPathogenic
Select item 3317082	NM_033127.4(SEC16B):c.3146G>A (p.Arg1049His)	CRYZL2P-SEC16B, SEC16B (R1050H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221484	NM_033127.4(SEC16B):c.3136C>T (p.Arg1046Trp)	CRYZL2P-SEC16B, SEC16B (R1047W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317073	NM_033127.4(SEC16B):c.3131T>C (p.Leu1044Pro)	CRYZL2P-SEC16B, SEC16B (L1044P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523920	NM_033127.4(SEC16B):c.3103G>C (p.Val1035Leu)	CRYZL2P-SEC16B, SEC16B (V1035L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786475	NM_033127.4(SEC16B):c.3092A>G (p.Asn1031Ser)	CRYZL2P-SEC16B, SEC16B (N1031S +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3317075	NM_033127.4(SEC16B):c.3061C>T (p.Pro1021Ser)	CRYZL2P-SEC16B, SEC16B (P1021S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259153	NM_033127.4(SEC16B):c.3061C>A (p.Pro1021Thr)	CRYZL2P-SEC16B, SEC16B (P1023T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260827	NM_033127.4(SEC16B):c.2996G>T (p.Gly999Val)	CRYZL2P-SEC16B, SEC16B (G1001V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159231	NM_033127.4(SEC16B):c.2986G>C (p.Gly996Arg)	CRYZL2P-SEC16B, SEC16B (G996R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317074	NM_033127.4(SEC16B):c.2956G>A (p.Ala986Thr)	CRYZL2P-SEC16B, SEC16B (A986T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2338355	NM_033127.4(SEC16B):c.2948G>A (p.Arg983Gln)	CRYZL2P-SEC16B, SEC16B (R984Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3317072	NM_033127.4(SEC16B):c.2882C>T (p.Ser961Phe)	CRYZL2P-SEC16B, SEC16B (S961F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557582	NM_033127.4(SEC16B):c.2828C>A (p.Thr943Asn)	CRYZL2P-SEC16B, SEC16B (T945N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720900	NM_033127.4(SEC16B):c.2804C>T (p.Ser935Leu)	CRYZL2P-SEC16B, SEC16B (S935L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3159230	NM_033127.4(SEC16B):c.2798A>G (p.Asp933Gly)	CRYZL2P-SEC16B, SEC16B (D933G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159229	NM_033127.4(SEC16B):c.2795A>G (p.Glu932Gly)	CRYZL2P-SEC16B, SEC16B (E933G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588338	NM_033127.4(SEC16B):c.2759C>T (p.Ser920Leu)	CRYZL2P-SEC16B, SEC16B (S920L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159227	NM_033127.4(SEC16B):c.2687A>G (p.Gln896Arg)	CRYZL2P-SEC16B, SEC16B (Q896R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2391420	NM_033127.4(SEC16B):c.2675G>A (p.Arg892Gln)	CRYZL2P-SEC16B, SEC16B (R893Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3317071	NM_033127.4(SEC16B):c.2657C>G (p.Ala886Gly)	CRYZL2P-SEC16B, SEC16B (A886G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159226	NM_033127.4(SEC16B):c.2654A>C (p.Glu885Ala)	CRYZL2P-SEC16B, SEC16B (E885A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393289	NM_033127.4(SEC16B):c.2614G>A (p.Ala872Thr)	CRYZL2P-SEC16B, SEC16B (A873T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2292972	NM_033127.4(SEC16B):c.2614G>T (p.Ala872Ser)	CRYZL2P-SEC16B, SEC16B (A872S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 732165	NM_033127.4(SEC16B):c.2550A>C (p.Gln850His)	CRYZL2P-SEC16B, SEC16B (Q850H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2336853	NM_033127.4(SEC16B):c.2437G>A (p.Val813Met)	CRYZL2P-SEC16B, SEC16B (V813M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159225	NM_033127.4(SEC16B):c.2414A>G (p.His805Arg)	CRYZL2P-SEC16B, SEC16B (H805R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159224	NM_033127.4(SEC16B):c.2350C>T (p.Pro784Ser)	CRYZL2P-SEC16B, SEC16B (P785S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231506	NM_033127.4(SEC16B):c.2339C>T (p.Pro780Leu)	CRYZL2P-SEC16B, SEC16B (P780L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524341	NM_033127.4(SEC16B):c.2323C>A (p.Pro775Thr)	CRYZL2P-SEC16B, SEC16B (P775T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159223	NM_033127.4(SEC16B):c.2264G>A (p.Arg755His)	CRYZL2P-SEC16B, SEC16B (R755H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317080	NM_033127.4(SEC16B):c.2216A>G (p.Tyr739Cys)	CRYZL2P-SEC16B, SEC16B (Y740C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317078	NM_033127.4(SEC16B):c.2168G>A (p.Arg723His)	CRYZL2P-SEC16B, SEC16B (R723H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3159222	NM_033127.4(SEC16B):c.2105C>T (p.Ala702Val)	CRYZL2P-SEC16B, SEC16B (A702V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2681534	NM_033127.4(SEC16B):c.1989C>A (p.Ser663Arg)	SEC16B, CRYZL2P-SEC16B (S663R +1 more)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2562008	NM_033127.4(SEC16B):c.1946A>G (p.Tyr649Cys)	CRYZL2P-SEC16B, SEC16B (Y649C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485959	NM_033127.4(SEC16B):c.1907G>T (p.Arg636Leu)	CRYZL2P-SEC16B, SEC16B (R636L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342292	NM_033127.4(SEC16B):c.1907G>A (p.Arg636His)	CRYZL2P-SEC16B, SEC16B (R637H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412245	NM_033127.4(SEC16B):c.1906C>T (p.Arg636Cys)	CRYZL2P-SEC16B, SEC16B (R636C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485958	NM_033127.4(SEC16B):c.1897T>C (p.Tyr633His)	CRYZL2P-SEC16B, SEC16B (Y633H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616396	NM_033127.4(SEC16B):c.1859A>T (p.Lys620Ile)	CRYZL2P-SEC16B, SEC16B (K620I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346225	NM_033127.4(SEC16B):c.1853G>C (p.Arg618Pro)	CRYZL2P-SEC16B, SEC16B (R618P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382302	NM_033127.4(SEC16B):c.1852C>T (p.Arg618Cys)	CRYZL2P-SEC16B, SEC16B (R619C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243120	NM_033127.4(SEC16B):c.1838G>C (p.Cys613Ser)	CRYZL2P-SEC16B, SEC16B (C613S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483617	NM_033127.4(SEC16B):c.1831G>C (p.Glu611Gln)	CRYZL2P-SEC16B, SEC16B (E611Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335935	NM_033127.4(SEC16B):c.1828T>C (p.Phe610Leu)	CRYZL2P-SEC16B, SEC16B (F611L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391821	NM_033127.4(SEC16B):c.1705A>G (p.Met569Val)	CRYZL2P-SEC16B, SEC16B (M569V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324498	NM_033127.4(SEC16B):c.1702C>G (p.Leu568Val)	CRYZL2P-SEC16B, SEC16B (L568V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555358	NM_033127.4(SEC16B):c.1699T>C (p.Tyr567His)	CRYZL2P-SEC16B, SEC16B (Y567H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159219	NM_033127.4(SEC16B):c.1696T>C (p.Cys566Arg)	CRYZL2P-SEC16B, SEC16B (C566R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205987	NM_033127.4(SEC16B):c.1676T>C (p.Leu559Pro)	CRYZL2P-SEC16B, SEC16B (L560P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559413	NM_033127.4(SEC16B):c.1672G>A (p.Gly558Arg)	CRYZL2P-SEC16B, SEC16B (G558R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 773416	NM_033127.4(SEC16B):c.1568G>A (p.Gly523Glu)	CRYZL2P-SEC16B, SEC16B (G524E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2379473	NM_033127.4(SEC16B):c.1544C>A (p.Thr515Lys)	CRYZL2P-SEC16B, SEC16B (T516K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159218	NM_033127.4(SEC16B):c.1525A>T (p.Arg509Trp)	CRYZL2P-SEC16B, SEC16B (R510W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516267	NM_033127.4(SEC16B):c.1481C>T (p.Ala494Val)	CRYZL2P-SEC16B, SEC16B (A495V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159216	NM_033127.4(SEC16B):c.1448G>A (p.Ser483Asn)	CRYZL2P-SEC16B, SEC16B (S484N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2221552	NM_033127.4(SEC16B):c.1427A>G (p.Lys476Arg)	CRYZL2P-SEC16B, SEC16B (K477R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159215	NM_033127.4(SEC16B):c.1345C>T (p.Leu449Phe)	CRYZL2P-SEC16B, SEC16B (L450F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358380	NM_033127.4(SEC16B):c.1324G>A (p.Val442Met)	CRYZL2P-SEC16B, SEC16B (V442M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558786	NM_033127.4(SEC16B):c.1321A>G (p.Ile441Val)	CRYZL2P-SEC16B, SEC16B (I441V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159214	NM_033127.4(SEC16B):c.1283C>T (p.Thr428Met)	CRYZL2P-SEC16B, SEC16B (T428M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159213	NM_033127.4(SEC16B):c.1271C>T (p.Pro424Leu)	CRYZL2P-SEC16B, SEC16B (P425L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159212	NM_033127.4(SEC16B):c.1174G>T (p.Asp392Tyr)	CRYZL2P-SEC16B, SEC16B (D393Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269968	NM_033127.4(SEC16B):c.1174G>A (p.Asp392Asn)	CRYZL2P-SEC16B, SEC16B (D393N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159211	NM_033127.4(SEC16B):c.1159G>A (p.Glu387Lys)	CRYZL2P-SEC16B, SEC16B (E388K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401969	NM_033127.4(SEC16B):c.1124G>A (p.Arg375His)	CRYZL2P-SEC16B, SEC16B (R375H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159210	NM_033127.4(SEC16B):c.1094T>C (p.Leu365Pro)	CRYZL2P-SEC16B, SEC16B (L365P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225966	NM_033127.4(SEC16B):c.1076G>A (p.Gly359Glu)	CRYZL2P-SEC16B, SEC16B (G359E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317081	NM_033127.4(SEC16B):c.1028C>G (p.Thr343Arg)	CRYZL2P-SEC16B, SEC16B (T343R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214265	NM_033127.4(SEC16B):c.1005T>G (p.Asp335Glu)	CRYZL2P-SEC16B, SEC16B (D336E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317079	NM_033127.4(SEC16B):c.1001A>G (p.Glu334Gly)	CRYZL2P-SEC16B, SEC16B (E334G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 746400	NM_033127.4(SEC16B):c.984A>G (p.Ser328=)	CRYZL2P-SEC16B, SEC16B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3159236	NM_033127.4(SEC16B):c.841C>T (p.Pro281Ser)	CRYZL2P-SEC16B, SEC16B (P282S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159235	NM_033127.4(SEC16B):c.749A>G (p.Asp250Gly)	CRYZL2P-SEC16B, SEC16B (D250G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530532	NM_033127.4(SEC16B):c.695G>A (p.Ser232Asn)	CRYZL2P-SEC16B, SEC16B (S232N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 789952	NM_033127.4(SEC16B):c.679C>T (p.Arg227Cys)	CRYZL2P-SEC16B, SEC16B (R227C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2204531	NM_033127.4(SEC16B):c.593C>A (p.Pro198Gln)	CRYZL2P-SEC16B, SEC16B (P198Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159234	NM_033127.4(SEC16B):c.581G>A (p.Gly194Glu)	CRYZL2P-SEC16B, SEC16B (G194E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159233	NM_033127.4(SEC16B):c.499A>T (p.Ser167Cys)	CRYZL2P-SEC16B, SEC16B (S167C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159232	NM_033127.4(SEC16B):c.422A>G (p.Gln141Arg)	CRYZL2P-SEC16B, SEC16B (Q141R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255166	NM_033127.4(SEC16B):c.388C>T (p.Pro130Ser)	CRYZL2P-SEC16B, SEC16B (P130S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308134	NM_033127.4(SEC16B):c.383G>T (p.Gly128Val)	CRYZL2P-SEC16B, SEC16B (G128V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394908	NM_033127.4(SEC16B):c.377A>G (p.Tyr126Cys)	CRYZL2P-SEC16B, SEC16B (Y126C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317076	NM_033127.4(SEC16B):c.345G>A (p.Met115Ile)	CRYZL2P-SEC16B, SEC16B (M115I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622994	NM_033127.4(SEC16B):c.340A>G (p.Thr114Ala)	CRYZL2P-SEC16B, SEC16B (T114A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3159228	NM_033127.4(SEC16B):c.272G>A (p.Gly91Asp)	CRYZL2P-SEC16B, SEC16B (G91D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557345	NM_033127.4(SEC16B):c.268G>A (p.Glu90Lys)	CRYZL2P-SEC16B, SEC16B (E90K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159221	NM_033127.4(SEC16B):c.201G>T (p.Gln67His)	CRYZL2P-SEC16B, SEC16B (Q67H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369018	NM_033127.4(SEC16B):c.123C>A (p.His41Gln)	CRYZL2P-SEC16B, SEC16B (H41Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2255167	NM_033127.4(SEC16B):c.82C>T (p.Arg28Trp)	CRYZL2P-SEC16B, SEC16B (R28W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 732634	NM_033127.4(SEC16B):c.52G>A (p.Ala18Thr)	CRYZL2P-SEC16B, SEC16B (A18T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3024863	NM_033127.4(SEC16B):c.38G>A (p.Arg13Gln)	CRYZL2P-SEC16B, SEC16B (R13Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign

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