List of variants in gene NECAP1 studied for neonatal-onset developmental and epileptic encephalopathy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 154

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HGVS	dbSNP	gnomAD frequency
NM_015509.4(NECAP1):c.670G>A (p.Asp224Asn)	rs2231752	0.00491
NM_015509.4(NECAP1):c.251C>T (p.Thr84Met)	rs137964265	0.00027
NM_015509.4(NECAP1):c.791A>G (p.Asn264Ser)	rs145154841	0.00019
NM_015509.4(NECAP1):c.714G>A (p.Thr238=)	rs759118416	0.00014
NM_015509.4(NECAP1):c.196+12G>A	rs371530521	0.00012
NM_015509.4(NECAP1):c.196+19C>T	rs770618397	0.00011
NM_015509.4(NECAP1):c.780-13T>C	rs200758236	0.00011
NM_015509.4(NECAP1):c.252G>A (p.Thr84=)	rs149036367	0.00009
NM_015509.4(NECAP1):c.114A>G (p.Leu38=)	rs141295769	0.00008
NM_015509.4(NECAP1):c.492+19A>G	rs150800929	0.00008
NM_015509.4(NECAP1):c.134G>C (p.Gly45Ala)	rs973563199	0.00006
NM_015509.4(NECAP1):c.489C>T (p.Ile163=)	rs773465096	0.00006
NM_015509.4(NECAP1):c.581A>G (p.Lys194Arg)	rs765855460	0.00006
NM_015509.4(NECAP1):c.301+15A>C	rs779900246	0.00005
NM_015509.4(NECAP1):c.417A>G (p.Glu139=)	rs778506326	0.00005
NM_015509.4(NECAP1):c.492+3G>A	rs368777299	0.00004
NM_015509.4(NECAP1):c.569C>T (p.Pro190Leu)	rs764080699	0.00004
NM_015509.4(NECAP1):c.136C>T (p.Arg46Cys)	rs202044480	0.00003
NM_015509.4(NECAP1):c.161A>C (p.Lys54Thr)	rs755337455	0.00003
NM_015509.4(NECAP1):c.436C>T (p.Arg146Cys)	rs1016693316	0.00003
NM_015509.4(NECAP1):c.492+7A>G	rs1449501710	0.00003
NM_015509.4(NECAP1):c.562C>A (p.Pro188Thr)	rs775614356	0.00003
NM_015509.4(NECAP1):c.804G>A (p.Gln268=)	rs112884329	0.00003
NM_015509.4(NECAP1):c.137G>A (p.Arg46His)	rs751979807	0.00002
NM_015509.4(NECAP1):c.180C>T (p.Leu60=)	rs374460096	0.00002
NM_015509.4(NECAP1):c.196+11C>T	rs375832217	0.00002
NM_015509.4(NECAP1):c.383+10G>C	rs1465757811	0.00002
NM_015509.4(NECAP1):c.437G>A (p.Arg146His)	rs769210779	0.00002
NM_015509.4(NECAP1):c.647C>T (p.Pro216Leu)	rs748757462	0.00002
NM_015509.4(NECAP1):c.723A>G (p.Ala241=)	rs1311591214	0.00002
NM_015509.4(NECAP1):c.142C>T (p.Arg48Ter)	rs587777420	0.00001
NM_015509.4(NECAP1):c.195A>G (p.Ser65=)	rs770774824	0.00001
NM_015509.4(NECAP1):c.197-12C>T	rs753873119	0.00001
NM_015509.4(NECAP1):c.301+14G>A	rs758362815	0.00001
NM_015509.4(NECAP1):c.302-13A>G	rs776765650	0.00001
NM_015509.4(NECAP1):c.305G>A (p.Arg102His)	rs766363501	0.00001
NM_015509.4(NECAP1):c.331A>G (p.Thr111Ala)	rs754771825	0.00001
NM_015509.4(NECAP1):c.352G>A (p.Asp118Asn)	rs755866954	0.00001
NM_015509.4(NECAP1):c.376C>T (p.His126Tyr)	rs775899740	0.00001
NM_015509.4(NECAP1):c.430G>A (p.Asp144Asn)	rs1219581866	0.00001
NM_015509.4(NECAP1):c.487A>G (p.Ile163Val)	rs1477942819	0.00001
NM_015509.4(NECAP1):c.516T>C (p.Gly172=)	rs748624358	0.00001
NM_015509.4(NECAP1):c.518C>T (p.Ala173Val)	rs770195923	0.00001
NM_015509.4(NECAP1):c.546G>A (p.Gly182=)	rs1327798217	0.00001
NM_015509.4(NECAP1):c.595C>T (p.Pro199Ser)	rs1340615210	0.00001
NM_015509.4(NECAP1):c.640C>T (p.Pro214Ser)	rs3203835	0.00001
NM_015509.4(NECAP1):c.648G>A (p.Pro216=)	rs370869772	0.00001
NM_015509.4(NECAP1):c.653C>A (p.Ser218Tyr)	rs371472296	0.00001
NM_015509.4(NECAP1):c.713C>T (p.Thr238Met)	rs763248083	0.00001
NM_015509.4(NECAP1):c.727A>G (p.Thr243Ala)	rs752197558	0.00001
NM_015509.4(NECAP1):c.746A>G (p.Asn249Ser)	rs776221234	0.00001
NM_015509.4(NECAP1):c.758G>A (p.Gly253Glu)	rs765737930	0.00001
NM_015509.4(NECAP1):c.772G>A (p.Ala258Thr)	rs898607958	0.00001
NM_015509.4(NECAP1):c.812A>G (p.Asn271Ser)	rs763046716	0.00001
NC_000012.11:g.(?_8248177)_(8248319_?)del
NM_015509.4(NECAP1):c.100T>A (p.Ser34Thr)	rs2120475831
NM_015509.4(NECAP1):c.117C>T (p.Asp39=)
NM_015509.4(NECAP1):c.126T>C (p.Asp42=)	rs970227105
NM_015509.4(NECAP1):c.131C>A (p.Thr44Asn)	rs2120475973
NM_015509.4(NECAP1):c.178C>T (p.Leu60Phe)	rs1947528448
NM_015509.4(NECAP1):c.196+12G>C	rs371530521
NM_015509.4(NECAP1):c.196+20C>G	rs2120476352
NM_015509.4(NECAP1):c.197-16T>C
NM_015509.4(NECAP1):c.197-19T>C
NM_015509.4(NECAP1):c.197-5G>C
NM_015509.4(NECAP1):c.197-8T>C	rs757344160
NM_015509.4(NECAP1):c.210T>C (p.Ala70=)
NM_015509.4(NECAP1):c.214G>T (p.Ala72Ser)	rs1947530992
NM_015509.4(NECAP1):c.217C>T (p.Pro73Ser)	rs2120476836
NM_015509.4(NECAP1):c.228A>G (p.Gln76=)
NM_015509.4(NECAP1):c.236G>A (p.Gly79Asp)
NM_015509.4(NECAP1):c.241G>T (p.Ala81Ser)
NM_015509.4(NECAP1):c.244G>A (p.Val82Met)	rs1947531325
NM_015509.4(NECAP1):c.258_273del (p.Asp87fs)
NM_015509.4(NECAP1):c.268C>T (p.Arg90Cys)	rs374365372
NM_015509.4(NECAP1):c.301+13G>A
NM_015509.4(NECAP1):c.301+1G>A	rs1947531929
NM_015509.4(NECAP1):c.302-11G>A	rs765403528
NM_015509.4(NECAP1):c.302-11G>T	rs765403528
NM_015509.4(NECAP1):c.302-12C>G
NM_015509.4(NECAP1):c.302-5C>T
NM_015509.4(NECAP1):c.315C>T (p.Phe105=)	rs2120482419
NM_015509.4(NECAP1):c.337C>T (p.Arg113Trp)
NM_015509.4(NECAP1):c.338G>A (p.Arg113Gln)
NM_015509.4(NECAP1):c.346G>T (p.Ala116Ser)	rs2120482566
NM_015509.4(NECAP1):c.351C>T (p.Phe117=)
NM_015509.4(NECAP1):c.372G>A (p.Gln124=)	rs2120482694
NM_015509.4(NECAP1):c.383+11dup	rs2120482806
NM_015509.4(NECAP1):c.383+13T>A
NM_015509.4(NECAP1):c.383+13del
NM_015509.4(NECAP1):c.383+15T>C
NM_015509.4(NECAP1):c.383+3G>T	rs1555169180
NM_015509.4(NECAP1):c.384-12G>A
NM_015509.4(NECAP1):c.384-15G>A
NM_015509.4(NECAP1):c.393G>A (p.Lys131=)
NM_015509.4(NECAP1):c.398A>G (p.Glu133Gly)
NM_015509.4(NECAP1):c.420T>G (p.Ser140=)
NM_015509.4(NECAP1):c.422A>G (p.Gln141Arg)	rs2120485560
NM_015509.4(NECAP1):c.427A>G (p.Met143Val)
NM_015509.4(NECAP1):c.437G>T (p.Arg146Leu)	rs769210779
NM_015509.4(NECAP1):c.442A>G (p.Lys148Glu)	rs368565295
NM_015509.4(NECAP1):c.449A>G (p.Asp150Gly)	rs2120485644
NM_015509.4(NECAP1):c.479A>C (p.Lys160Thr)
NM_015509.4(NECAP1):c.492+15T>C	rs2120485872
NM_015509.4(NECAP1):c.492+15del
NM_015509.4(NECAP1):c.492+18A>T	rs2120485883
NM_015509.4(NECAP1):c.493-6T>C
NM_015509.4(NECAP1):c.515G>A (p.Gly172Asp)
NM_015509.4(NECAP1):c.515G>T (p.Gly172Val)
NM_015509.4(NECAP1):c.531G>A (p.Arg177=)
NM_015509.4(NECAP1):c.539G>A (p.Arg180Lys)	rs934424311
NM_015509.4(NECAP1):c.542G>C (p.Gly181Ala)
NM_015509.4(NECAP1):c.555C>T (p.Ser185=)
NM_015509.4(NECAP1):c.569C>G (p.Pro190Arg)	rs764080699
NM_015509.4(NECAP1):c.570G>A (p.Pro190=)	rs148192941
NM_015509.4(NECAP1):c.570G>T (p.Pro190=)	rs148192941
NM_015509.4(NECAP1):c.573A>G (p.Pro191=)
NM_015509.4(NECAP1):c.579C>A (p.Gly193=)
NM_015509.4(NECAP1):c.581A>T (p.Lys194Ile)	rs765855460
NM_015509.4(NECAP1):c.586A>C (p.Thr196Pro)
NM_015509.4(NECAP1):c.594C>T (p.Pro198=)	rs1947563520
NM_015509.4(NECAP1):c.629T>C (p.Val210Ala)	rs1205804172
NM_015509.4(NECAP1):c.648G>T (p.Pro216=)	rs370869772
NM_015509.4(NECAP1):c.653C>T (p.Ser218Phe)	rs371472296
NM_015509.4(NECAP1):c.664G>A (p.Gly222Ser)
NM_015509.4(NECAP1):c.674C>G (p.Ala225Gly)	rs2120487076
NM_015509.4(NECAP1):c.676+10G>A
NM_015509.4(NECAP1):c.676+15T>C
NM_015509.4(NECAP1):c.676+16C>G
NM_015509.4(NECAP1):c.676+18A>G	rs1947564278
NM_015509.4(NECAP1):c.676+9A>G
NM_015509.4(NECAP1):c.677-12C>T
NM_015509.4(NECAP1):c.677-17del
NM_015509.4(NECAP1):c.681C>A (p.Ile227=)
NM_015509.4(NECAP1):c.700C>T (p.Pro234Ser)
NM_015509.4(NECAP1):c.706C>T (p.Pro236Ser)
NM_015509.4(NECAP1):c.709G>A (p.Val237Ile)
NM_015509.4(NECAP1):c.709G>C (p.Val237Leu)	rs752918460
NM_015509.4(NECAP1):c.715A>T (p.Thr239Ser)	rs1555169422
NM_015509.4(NECAP1):c.734T>C (p.Val245Ala)	rs2120495324
NM_015509.4(NECAP1):c.753G>T (p.Leu251Phe)	rs1947587871
NM_015509.4(NECAP1):c.765C>T (p.Phe255=)
NM_015509.4(NECAP1):c.779+19C>T
NM_015509.4(NECAP1):c.779G>A (p.Ser260Asn)	rs2120495561
NM_015509.4(NECAP1):c.780-12_780-10del
NM_015509.4(NECAP1):c.780-7C>G
NM_015509.4(NECAP1):c.782C>G (p.Ser261Cys)	rs1264229871
NM_015509.4(NECAP1):c.790A>G (p.Asn264Asp)	rs2120496634
NM_015509.4(NECAP1):c.794A>T (p.Gln265Leu)	rs1427000545
NM_015509.4(NECAP1):c.797C>T (p.Ala266Val)	rs1020014973
NM_015509.4(NECAP1):c.810C>T (p.Ser270=)
NM_015509.4(NECAP1):c.818T>C (p.Val273Ala)	rs2120496797
NM_015509.4(NECAP1):c.822G>C (p.Gln274His)
NM_015509.4(NECAP1):c.96-15C>T

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