6323[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	ABCB11, ACVR1 +530 more	Copy number gain	See cases	GPathogenic
Select item 59150	GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3	ACVR1, ACVR1C +275 more	Copy number gain	See cases	GPathogenic
Select item 57318	GRCh38/hg38 2q24.1-24.3(chr2:158382388-166605758)x1	BAZ2B, BAZ2B-AS1 +197 more	Copy number loss	See cases	GPathogenic
Select item 60245	GRCh38/hg38 2q24.3(chr2:163455290-166962322)x1	COBLL1, CSRNP3 +38 more	Copy number loss	See cases	GPathogenic
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	KLHL23, KLHL41 +488 more	Copy number loss	See cases	GPathogenic
Select item 60249	GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1	LOC129935070, LOC129935071 +162 more	Copy number loss	See cases	GPathogenic
Select item 57491	GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1	ABCB11, ATF2 +269 more	Copy number loss	See cases	GPathogenic
Select item 144471	GRCh38/hg38 2q24.3(chr2:164920562-167536439)x3	B3GALT1, CSRNP3 +25 more	Copy number gain	See cases	GPathogenic
Select item 1707403	GRCh38/hg38 2q24.3(chr2:165155128-166062451)x1	CSRNP3, GALNT3 +15 more	Copy number loss	Epilepsy of infancy with migrating focal seizures	GPathogenic
Select item 652948	NC_000002.12:g.(?_165090130)_(166286643_?)del	CSRNP3, GALNT3 +17 more	Deletion	Generalized epilepsy with febrile seizures plus, type 7 +2 more	GPathogenic
Select item 651833	NC_000002.12:g.(?_165090130)_(166311776_?)del	LOC129935046, LOC129935047 +17 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 530654	NC_000002.12:g.(?_165090130)_(166228992_?)del	CSRNP3, GALNT3 +17 more	Deletion	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GPathogenic
Select item 155321	GRCh38/hg38 2q24.3(chr2:165222998-166664612)x1	CSRNP3, GALNT3 +16 more	Copy number loss	See cases	GPathogenic
Select item 153359	GRCh38/hg38 2q24.3(chr2:165238425-166114982)x1	CSRNP3, GALNT3 +14 more	Copy number loss	See cases	GPathogenic
Select item 1707404	GRCh38/hg38 2q24.3(chr2:165383106-167432622)x1	B3GALT1, CSRNP3 +22 more	Copy number loss	West syndrome	GPathogenic
Select item 655230	NC_000002.11:g.(?_166152314)_(167108415_?)dup	LOC100506124, LOC129388938 +14 more	Duplication	Generalized epilepsy with febrile seizures plus, type 7 +2 more	GUncertain significance
Select item 146138	GRCh38/hg38 2q24.3(chr2:165542113-166137050)x3	CSRNP3, GALNT3 +11 more	Copy number gain	See cases	GUncertain significance
Select item 58906	GRCh38/hg38 2q24.3(chr2:165542962-166152073)x3	CSRNP3, GALNT3 +11 more	Copy number gain	See cases	GUncertain significance
Select item 471073	NC_000002.12:g.(?_165874735)_(166311776_?)del	LOC102724058, LOC129935046 +6 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 147966	GRCh38/hg38 2q24.3(chr2:165888312-166185811)x1	LOC102724058, LOC129935047 +4 more	Copy number loss	See cases	GPathogenic
Select item 12899	NC_000002.12:g.(?_165985812)_(166002754_166009718)del	LOC102724058, SCN1A	Deletion	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 154605	GRCh38/hg38 2q24.3(chr2:165986097-166443535)x1	LOC102724058, SCN1A +3 more	Copy number loss	See cases	GPathogenic
Select item 331855	NM_001165963.4(SCN1A):c.*1989C>T	SCN1A, LOC102724058	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +2 more	GUncertain significance
Select item 331856	NM_001165963.4(SCN1A):c.*1961C>T	LOC102724058, SCN1A	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +3 more	GBenign/Likely benign
Select item 331857	NM_001165963.4(SCN1A):c.*1952T>C	LOC102724058, SCN1A	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +3 more	GBenign/Likely benign
Select item 331858	NM_001165963.4(SCN1A):c.*1950G>A	LOC102724058, SCN1A	Single nucleotide variant (3 prime UTR variant +1 more)	Migraine, familial hemiplegic, 3 +2 more	GUncertain significance
Select item 331859	NM_001165963.4(SCN1A):c.*1872del	LOC102724058, SCN1A	Deletion (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 331860	NM_001165963.4(SCN1A):c.*1864T>A	LOC102724058, SCN1A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 331861	NM_001165963.4(SCN1A):c.*1795G>A	LOC102724058, SCN1A	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +2 more	GConflicting classifications of pathogenicity
Select item 893817	NM_001165963.4(SCN1A):c.*1794C>T	LOC102724058, SCN1A	Single nucleotide variant (3 prime UTR variant +1 more)	Migraine, familial hemiplegic, 3 +1 more	GUncertain significance
Select item 1325975	NM_001165963.4(SCN1A):c.*1750T>C	LOC102724058, SCN1A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 331862	NM_001165963.4(SCN1A):c.*1739C>T	LOC102724058, SCN1A	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +3 more	GBenign
Select item 331863	NM_001165963.4(SCN1A):c.*1693A>G	LOC102724058, SCN1A	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +3 more	GBenign/Likely benign
Select item 331864	NM_001165963.4(SCN1A):c.*1653C>T	LOC102724058, SCN1A	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +3 more	GBenign/Likely benign
Select item 331865	NM_001165963.4(SCN1A):c.*1482G>A	LOC102724058, SCN1A	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +2 more	GUncertain significance
Select item 894730	NM_001165963.4(SCN1A):c.*1366A>T	LOC102724058, SCN1A	Single nucleotide variant (3 prime UTR variant +1 more)	Migraine, familial hemiplegic, 3 +1 more	GUncertain significance
Select item 894731	NM_001165963.4(SCN1A):c.*1325G>A	LOC102724058, SCN1A	Single nucleotide variant (3 prime UTR variant +1 more)	Migraine, familial hemiplegic, 3 +1 more	GUncertain significance
Select item 892748	NM_001165963.4(SCN1A):c.*1297G>A	LOC102724058, SCN1A	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +1 more	GUncertain significance
Select item 331866	NM_001165963.4(SCN1A):c.*1224G>A	LOC102724058, SCN1A	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +2 more	GBenign/Likely benign
Select item 892749	NM_001165963.4(SCN1A):c.*1152A>G	LOC102724058, SCN1A	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +1 more	GUncertain significance
Select item 892750	NM_001165963.4(SCN1A):c.*1144G>C	LOC102724058, SCN1A	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +1 more	GUncertain significance
Select item 893545	NM_001165963.4(SCN1A):c.*1125T>G	LOC102724058, SCN1A	Single nucleotide variant (3 prime UTR variant +1 more)	Migraine, familial hemiplegic, 3 +1 more	GUncertain significance
Select item 331867	NM_001165963.4(SCN1A):c.*1121T>C	LOC102724058, SCN1A	Single nucleotide variant (3 prime UTR variant +1 more)	Migraine, familial hemiplegic, 3 +2 more	GUncertain significance
Select item 331868	NM_001165963.4(SCN1A):c.*1031A>T	LOC102724058, SCN1A	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +2 more	GLikely benign
Select item 331869	NM_001165963.4(SCN1A):c.*1025T>C	LOC102724058, SCN1A	Single nucleotide variant (3 prime UTR variant +1 more)	Epilepsy +2 more	GBenign/Likely benign
Select item 331870	NM_001165963.4(SCN1A):c.*977T>C	LOC102724058, SCN1A	Single nucleotide variant (3 prime UTR variant +1 more)	Epilepsy +2 more	GUncertain significance
Select item 893842	NM_001165963.4(SCN1A):c.*926C>T	LOC102724058, SCN1A	Single nucleotide variant (3 prime UTR variant +1 more)	Migraine, familial hemiplegic, 3 +1 more	GUncertain significance
Select item 331871	NM_001165963.4(SCN1A):c.*912T>A	LOC102724058, SCN1A	Single nucleotide variant (3 prime UTR variant +1 more)	Epilepsy +2 more	GUncertain significance
Select item 331872	NM_001165963.4(SCN1A):c.*878dup	LOC102724058, SCN1A	Duplication (3 prime UTR variant +1 more)	Epilepsy +1 more	GUncertain significance
Select item 893843	NM_001165963.4(SCN1A):c.*797T>C	LOC102724058, SCN1A	Single nucleotide variant (3 prime UTR variant +1 more)	Migraine, familial hemiplegic, 3 +1 more	GUncertain significance
Select item 894763	NM_001165963.4(SCN1A):c.*774G>A	LOC102724058, SCN1A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 331873	NM_001165963.4(SCN1A):c.*721A>G	LOC102724058, SCN1A	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +3 more	GBenign
Select item 894764	NM_001165963.4(SCN1A):c.*677G>A	LOC102724058, SCN1A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 331874	NM_001165963.4(SCN1A):c.672_675del	LOC102724058, SCN1A	Deletion (3 prime UTR variant +1 more)	Epilepsy +1 more	GUncertain significance
Select item 331875	NM_001165963.4(SCN1A):c.*588A>G	LOC102724058, SCN1A	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +2 more	GBenign/Likely benign
Select item 892778	NM_001165963.4(SCN1A):c.*553G>A	LOC102724058, SCN1A	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +1 more	GUncertain significance
Select item 892779	NM_001165963.4(SCN1A):c.*515G>T	LOC102724058, SCN1A	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +1 more	GUncertain significance
Select item 331876	NM_001165963.4(SCN1A):c.*460A>C	LOC102724058, SCN1A	Single nucleotide variant (3 prime UTR variant +1 more)	Epilepsy +2 more	GUncertain significance
Select item 892780	NM_001165963.4(SCN1A):c.*458G>A	LOC102724058, SCN1A	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +1 more	GUncertain significance
Select item 893591	NM_001165963.4(SCN1A):c.*374T>C	LOC102724058, SCN1A	Single nucleotide variant (3 prime UTR variant +1 more)	Migraine, familial hemiplegic, 3 +1 more	GUncertain significance
Select item 331877	NM_001165963.4(SCN1A):c.*259T>C	LOC102724058, SCN1A	Single nucleotide variant (3 prime UTR variant +1 more)	Epilepsy +2 more	GUncertain significance
Select item 893592	NM_001165963.4(SCN1A):c.*186G>A	LOC102724058, SCN1A	Single nucleotide variant (3 prime UTR variant +1 more)	Migraine, familial hemiplegic, 3 +1 more	GUncertain significance
Select item 331878	NM_001165963.4(SCN1A):c.*172dup	LOC102724058, SCN1A	Duplication (3 prime UTR variant +1 more)	Familial hemiplegic migraine +2 more	GBenign/Likely benign
Select item 331879	NM_001165963.4(SCN1A):c.*129T>G	LOC102724058, SCN1A	Single nucleotide variant (3 prime UTR variant +1 more)	Epilepsy +2 more	GUncertain significance
Select item 495277	NC_000002.11:g.(?_166847704)_(166930181_?)dup	LOC102724058, SCN1A	Duplication	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 206733	NM_001165963.4(SCN1A):c.*20A>G	LOC102724058, SCN1A	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GBenign
Select item 2435674	NM_001165963.4(SCN1A):c.6027A>G (p.Lys2009=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 697749	NM_001165963.4(SCN1A):c.6024G>A (p.Gly2008=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1306292	NM_001165963.4(SCN1A):c.6021A>T (p.Lys2007Asn)	LOC102724058, SCN1A (K1193N +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1210876	NM_001165963.4(SCN1A):c.6019A>G (p.Lys2007Glu)	LOC102724058, SCN1A (K1193E +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1709553	NM_001165963.4(SCN1A):c.6016G>A (p.Ala2006Thr)	LOC102724058, SCN1A (A1192T +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GUncertain significance
Select item 2057939	NM_001165963.4(SCN1A):c.6015A>G (p.Lys2005=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 524008	NM_001165963.4(SCN1A):c.6009_6013dup (p.Lys2005fs)	LOC102724058, SCN1A (K1191fs +5 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1016118	NM_001165963.4(SCN1A):c.6006_6008del (p.Lys2002_Asp2003delinsAsn)	LOC102724058, SCN1A	Deletion (inframe_indel +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2878913	NM_001165963.4(SCN1A):c.6003C>T (p.Gly2001=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 588859	NM_001165963.4(SCN1A):c.5995C>T (p.Gln1999Ter)	LOC102724058, SCN1A (Q1988* +5 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2845213	NM_001165963.4(SCN1A):c.5994G>A (p.Glu1998=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2053516	NM_001165963.4(SCN1A):c.5992G>A (p.Glu1998Lys)	LOC102724058, SCN1A (E1184K +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 331880	NM_001165963.4(SCN1A):c.5992G>C (p.Glu1998Gln)	LOC102724058, SCN1A (E1998Q +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GUncertain significance
Select item 660951	NM_001165963.4(SCN1A):c.5990A>G (p.His1997Arg)	LOC102724058, SCN1A (H1183R +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 498246	NM_001165963.4(SCN1A):c.5988A>C (p.Lys1996Asn)	LOC102724058, SCN1A (K1985N +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2738544	NM_001165963.4(SCN1A):c.5983G>C (p.Glu1995Gln)	LOC102724058, SCN1A (E1966Q +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2016406	NM_001165963.4(SCN1A):c.5983G>A (p.Glu1995Lys)	LOC102724058, SCN1A (E1967K +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2057373	NM_001165963.4(SCN1A):c.5979T>C (p.Ile1993=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 661300	NM_001165963.4(SCN1A):c.5978T>C (p.Ile1993Thr)	LOC102724058, SCN1A (I1982T +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GUncertain significance
Select item 206887	NM_001165963.4(SCN1A):c.5977A>G (p.Ile1993Val)	LOC102724058, SCN1A (I1982V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2580078	NM_001165963.4(SCN1A):c.5975C>T (p.Pro1992Leu)	LOC102724058, SCN1A (P1178L +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1315180	NM_001165963.4(SCN1A):c.5972del (p.Lys1991fs)	LOC102724058, SCN1A (K1177fs +5 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1483285	NM_001165963.4(SCN1A):c.5971A>G (p.Lys1991Glu)	LOC102724058, SCN1A (K1980E +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 767516	NM_001165963.4(SCN1A):c.5970A>C (p.Thr1990=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 449138	NM_001165963.4(SCN1A):c.5963G>A (p.Arg1988Gln)	LOC102724058, SCN1A (R1977Q +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 654734	NM_001165963.4(SCN1A):c.5962C>T (p.Arg1988Trp)	LOC102724058, SCN1A (R1977W +5 more)	Single nucleotide variant (missense variant +1 more)	See cases +2 more	GConflicting classifications of pathogenicity
Select item 1378639	NM_001165963.4(SCN1A):c.5957A>G (p.Tyr1986Cys)	LOC102724058, SCN1A (Y1958C +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1203028	NM_001165963.4(SCN1A):c.5956T>C (p.Tyr1986His)	LOC102724058, SCN1A (Y1172H +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 93661	NM_001165963.4(SCN1A):c.5951C>A (p.Pro1984His)	LOC102724058, SCN1A (P1973H +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +7 more	GConflicting classifications of pathogenicity
Select item 1750637	NM_001165963.4(SCN1A):c.5944T>C (p.Cys1982Arg)	LOC102724058, SCN1A (C1953R +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2165612	NM_001165963.4(SCN1A):c.5942C>A (p.Ala1981Asp)	LOC102724058, SCN1A (A1970D +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2858967	NM_001165963.4(SCN1A):c.5933C>T (p.Ser1978Phe)	LOC102724058, SCN1A (S1949F +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 530488	NM_001165963.4(SCN1A):c.5932T>A (p.Ser1978Thr)	LOC102724058, SCN1A (S1967T +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1977542	NM_001165963.4(SCN1A):c.5929A>G (p.Met1977Val)	LOC102724058, SCN1A (M1965V +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance

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