ClinVar for MedGen (Select 20693) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242594	NM_001099922.3(ALG13):c.412dup (p.Ser138fs)	ALG13 (S138fs +2 more)	Duplication (frameshift variant +1 more)	Seizure	GLikely pathogenic
Select item 3242593	NM_004974.4(KCNA2):c.694T>C (p.Trp232Arg)	KCNA2 (W232R)	Single nucleotide variant (missense variant)	Seizure	GLikely pathogenic
Select item 3242592	NM_006306.4(SMC1A):c.1511_1517dup (p.Ile507fs)	SMC1A (I485fs +1 more)	Duplication (frameshift variant)	Seizure	GPathogenic
Select item 3242591	NM_004519.4(KCNQ3):c.926G>C (p.Trp309Ser)	KCNQ3 (W189S +1 more)	Single nucleotide variant (missense variant)	Seizure	GLikely pathogenic
Select item 3242530	NM_003042.4(SLC6A1):c.383C>T (p.Ala128Val)	SLC6A1, SLC6A1-AS1 (A128V +1 more)	Single nucleotide variant (missense variant +1 more)	Seizure	GPathogenic
Select item 3237176	NM_006914.4(RORB):c.1224G>A (p.Lys408=)	RORB	Single nucleotide variant (synonymous variant)	Seizure	GLikely pathogenic
Select item 3236687	NM_001184880.2(PCDH19):c.462C>A (p.Tyr154Ter)	PCDH19 (Y154*)	Single nucleotide variant (nonsense)	Seizure	GPathogenic
Select item 3236686	NM_001165963.4(SCN1A):c.1212delinsTG (p.Leu405fs)	SCN1A (L405fs)	Indel (frameshift variant +2 more)	Seizure	GPathogenic
Select item 3236685	NM_001271.4(CHD2):c.4582del (p.Leu1528fs)	CHD2 (L1528fs)	Deletion (frameshift variant)	Seizure	GPathogenic
Select item 3236161	NM_000824.5(GLRB):c.790A>T (p.Arg264Trp)	GLRB (R264W)	Single nucleotide variant (missense variant)	Seizure	GLikely pathogenic
Select item 3235882	NM_001165963.4(SCN1A):c.5614A>G (p.Thr1872Ala)	LOC102724058, SCN1A (T1058A +5 more)	Single nucleotide variant (missense variant +1 more)	Seizure	GLikely pathogenic
Select item 3235879	NM_172107.4(KCNQ2):c.1644C>A (p.Phe548Leu)	KCNQ2 (F517L +3 more)	Single nucleotide variant (missense variant)	Seizure	GLikely pathogenic
Select item 3235103	NM_001165963.4(SCN1A):c.1492A>T (p.Arg498Ter)	SCN1A (R497* +1 more)	Single nucleotide variant (nonsense +2 more)	Seizure	GPathogenic
Select item 3235099	NM_001165963.4(SCN1A):c.4795T>C (p.Tyr1599His)	LOC102724058, SCN1A (Y1570H +5 more)	Single nucleotide variant (missense variant +1 more)	Seizure	GPathogenic
Select item 3235098	NM_001323289.2(CDKL5):c.1772C>G (p.Ser591Cys)	CDKL5 (S591C)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 3235097	NM_001165963.4(SCN1A):c.4519del (p.Tyr1507fs)	LOC102724058, SCN1A (Y1478fs +5 more)	Deletion (frameshift variant +1 more)	Seizure	GPathogenic
Select item 3235092	NM_001371727.1(GABRB2):c.920T>G (p.Met307Arg)	GABRB2 (M307R)	Single nucleotide variant (missense variant)	Seizure	GLikely pathogenic
Select item 3235089	NM_001184880.2(PCDH19):c.898del (p.Val300fs)	PCDH19 (V300fs)	Deletion (frameshift variant)	Seizure	GPathogenic
Select item 3235088	NM_001184880.2(PCDH19):c.1387C>T (p.Gln463Ter)	PCDH19 (Q463*)	Single nucleotide variant (nonsense)	Seizure	GPathogenic
Select item 3235087	NM_006772.3(SYNGAP1):c.1082A>C (p.Gln361Pro)	SYNGAP1, SYNGAP1-AS1 (Q361P)	Single nucleotide variant (missense variant)	Seizure	GLikely pathogenic
Select item 3235086	NM_001184880.2(PCDH19):c.1792delinsTT (p.Gly598fs)	PCDH19 (G598fs)	Indel (frameshift variant)	Seizure	GPathogenic
Select item 3234119	NM_018941.4(CLN8):c.757A>G (p.Lys253Glu)	CLN8 (K253E)	Single nucleotide variant (missense variant)	Seizure	GLikely pathogenic
Select item 3234117	NM_001242896.3(DEPDC5):c.563-2A>C	DEPDC5	Single nucleotide variant (splice acceptor variant)	Seizure	GPathogenic
Select item 2944889	NM_000814.6(GABRB3):c.551A>G (p.Tyr184Cys)	GABRB3 (Y184C +2 more)	Single nucleotide variant (missense variant)	Seizure +2 more	GPathogenic/Likely pathogenic
Select item 2637917	NM_001127222.2(CACNA1A):c.3138dup (p.Thr1047fs)	CACNA1A (T1047fs +2 more)	Duplication (frameshift variant)	Seizure	GLikely pathogenic
Select item 2626766	NM_001111125.3(IQSEC2):c.3554del (p.Pro1185fs)	IQSEC2 (P1185fs)	Deletion (frameshift variant +1 more)	Seizure	GLikely pathogenic
Select item 2626765	NM_172107.4(KCNQ2):c.256G>A (p.Glu86Lys)	KCNQ2 (E86K)	Single nucleotide variant (missense variant)	Seizure	GLikely pathogenic
Select item 2626764	NM_001184880.2(PCDH19):c.139C>T (p.Arg47Ter)	PCDH19 (R47*)	Single nucleotide variant (nonsense)	Seizure	GPathogenic
Select item 2626763	NM_006914.4(RORB):c.1163T>A (p.Ile388Asn)	RORB (I388N +1 more)	Single nucleotide variant (missense variant)	RORB-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2626762	NM_031844.3(HNRNPU):c.728del (p.Lys243fs)	HNRNPU (K224fs +1 more)	Deletion (frameshift variant)	Seizure	GPathogenic
Select item 2626761	NM_004974.4(KCNA2):c.485C>A (p.Ala162Asp)	KCNA2 (A162D)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 32 +1 more	GConflicting classifications of pathogenicity
Select item 2626760	NM_005097.4(LGI1):c.287+3G>C	LGI1	Single nucleotide variant (intron variant)	Seizure	GLikely pathogenic
Select item 2571623	NM_003112.5(SP4):c.90dup (p.Asn31Ter)	SP4 (N14* +1 more)	Duplication (nonsense +2 more)	Attention deficit hyperactivity disorder +5 more	GUncertain significance
Select item 2570695	NM_001039469.3(MARK2):c.1931G>T (p.Arg644Leu)	MARK2 (R610L +3 more)	Single nucleotide variant (missense variant)	Seizure +5 more	GUncertain significance
Select item 2570694	NM_194449.4(PHLPP1):c.2302del (p.Ser768fs)	PHLPP1 (S768fs)	Deletion (frameshift variant)	Focal impaired awareness seizure +2 more	GUncertain significance
Select item 2570682	NM_001367479.1(DNAH14):c.3406A>C (p.Lys1136Gln)	DNAH14 (K1136Q)	Single nucleotide variant (missense variant)	Seizure +4 more	GUncertain significance
Select item 2570681	NM_001367479.1(DNAH14):c.5237T>C (p.Leu1746Ser)	DNAH14 (L1746S)	Single nucleotide variant (missense variant)	Seizure +4 more	GUncertain significance
Select item 2570674	NM_001358.3(DHX15):c.1327A>G (p.Lys443Glu)	DHX15 (K443E)	Single nucleotide variant (missense variant)	Seizure +7 more	GUncertain significance
Select item 2570672	NM_022113.6(KIF13A):c.3364A>G (p.Lys1122Glu)	KIF13A (K1122E +1 more)	Single nucleotide variant (missense variant)	Seizure +4 more	GUncertain significance
Select item 2570671	NM_152221.3(CSNK1E):c.532C>T (p.Arg178Cys)	TPTEP2-CSNK1E, CSNK1E (R178C)	Single nucleotide variant (missense variant)	Intellectual disability, moderate +11 more	GUncertain significance
Select item 2570670	NM_014681.6(DHX34):c.3260A>G (p.Glu1087Gly)	DHX34 (E1087G)	Single nucleotide variant (missense variant)	Seizure +1 more	GUncertain significance
Select item 2570669	NM_014681.6(DHX34):c.3160-23_3169del	DHX34	Deletion (splice acceptor variant)	Seizure +1 more	GUncertain significance
Select item 2570664	NM_172230.3(SYVN1):c.68A>G (p.Tyr23Cys)	SYVN1 (Y23C)	Single nucleotide variant (missense variant)	Seizure +8 more	GUncertain significance
Select item 2570663	NM_172230.3(SYVN1):c.38C>T (p.Ala13Val)	SYVN1 (A13V)	Single nucleotide variant (missense variant)	Seizure +8 more	GUncertain significance
Select item 2570649	NM_005898.5(CAPRIN1):c.274C>T (p.Gln92Ter)	CAPRIN1 (Q92*)	Single nucleotide variant (nonsense)	Seizure +3 more	GLikely pathogenic
Select item 2500344	NM_001042603.3(KDM5A):c.4283G>T (p.Arg1428Leu)	KDM5A (R1428L)	Single nucleotide variant (missense variant)	Seizure +1 more	GLikely pathogenic
Select item 2500343	NM_001042603.3(KDM5A):c.1A>T (p.Met1Leu)	KDM5A (M1L)	Single nucleotide variant (missense variant +1 more)	Seizure +1 more	GLikely pathogenic
Select item 2499616	NM_006283.3(TACC1):c.2186G>A (p.Arg729Gln)	TACC1 (R262Q +19 more)	Single nucleotide variant (missense variant +1 more)	Seizure +1 more	GUncertain significance
Select item 2499559	NM_003400.4(XPO1):c.1952A>T (p.Glu651Val)	XPO1 (E651V)	Single nucleotide variant (missense variant +1 more)	Seizure	GUncertain significance
Select item 2463026	NM_006283.3(TACC1):c.1564G>A (p.Glu522Lys)	TACC1 (E112K +11 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2430193	NM_145166.4(ZBTB47):c.2039A>G (p.Glu680Gly)	ZBTB47 (E680G +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental delay +1 more	GUncertain significance
Select item 2429773	NM_006772.3(SYNGAP1):c.1991T>C (p.Leu664Ser)	SYNGAP1, SYNGAP1-AS1 (L664S)	Single nucleotide variant (missense variant)	Seizure	GLikely benign
Select item 2429772	NM_020137.5(GRIPAP1):c.1669G>A (p.Glu557Lys)	GRIPAP1 (E557K)	Single nucleotide variant (missense variant)	Seizure +1 more	GConflicting classifications of pathogenicity
Select item 2429771	NM_002397.5(MEF2C):c.967T>A (p.Tyr323Asn)	MEF2C (Y173N +7 more)	Single nucleotide variant (missense variant)	Seizure	GLikely benign
Select item 2429474	NM_020759.3(STARD9):c.7008del (p.Pro2336_Leu2337insTer)	STARD9	Deletion (frameshift variant)	Seizure +1 more	GUncertain significance
Select item 2429349	NM_001032221.6(STXBP1):c.808G>A (p.Gly270Ser)	STXBP1 (G256S +2 more)	Single nucleotide variant (missense variant +1 more)	Seizure	GUncertain significance
Select item 2031668	NM_172107.4(KCNQ2):c.1021C>T (p.Gln341Ter)	KCNQ2 (Q341*)	Single nucleotide variant (nonsense)	Seizure +1 more	GPathogenic
Select item 1804039	NM_003571.4(BFSP2):c.449G>A (p.Trp150Ter)	BFSP2 (W150*)	Single nucleotide variant (nonsense)	Intellectual disability +6 more	GPathogenic
Select item 1804036	NM_001256071.3(RNF213):c.114C>G (p.Asn38Lys)	RNF213 (N38K)	Single nucleotide variant (missense variant)	Hemangioma +4 more	GLikely pathogenic
Select item 1804024	NM_001697.3(ATP5PO):c.34C>T (p.Gln12Ter)	ATP5PO, LOC130066573 (Q12*)	Single nucleotide variant (nonsense)	Severe global developmental delay +3 more	GPathogenic
Select item 1804019	NM_001697.3(ATP5PO):c.329-20A>G	ATP5PO	Single nucleotide variant (intron variant)	Severe global developmental delay +3 more	GPathogenic
Select item 1803652	NM_000810.4(GABRA5):c.847C>T (p.Arg283Trp)	GABRA5 (R283W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1802172	NM_000243.3(MEFV):c.[2080A>G];[2177T>C]			Familial Mediterranean fever	GPathogenic
Select item 1710931	NM_001242896.3(DEPDC5):c.2631dup (p.Lys878fs)	DEPDC5 (K800fs +3 more)	Duplication (frameshift variant +1 more)	Seizure	GPathogenic
Select item 1708414	NM_001184880.2(PCDH19):c.1051_1054del (p.Val351fs)	PCDH19 (V351fs)	Microsatellite (frameshift variant)	Seizure	GLikely pathogenic
Select item 1707520	NM_016333.4(SRRM2):c.6777_6778del (p.Arg2260fs)	SRRM2 (R2260fs)	Microsatellite (frameshift variant)	Status epilepticus +2 more	GLikely pathogenic
Select item 1705886	GRCh37/hg19 6q21(chr6:110720327-111091182)x3	SLC22A16, CDK19 +1 more	Copy number gain	Seizure	GUncertain significance
Select item 1705885	GRCh37/hg19 5q33.1(chr5:151264215-151547865)x0	GLRA1	Copy number loss	Seizure	GPathogenic
Select item 1703613	GRCh37/hg19 16p13.11(chr16:14897372-16513267)	ABCC1, ABCC6 +13 more	Copy number loss	Seizure	GPathogenic
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1703539	GRCh37/hg19 11q24.3-25(chr11:130173156-134938470)	ACAD8, ADAMTS15 +17 more	Copy number gain	Seizure	GLikely pathogenic
Select item 1703016	NM_001165963.4(SCN1A):c.2081C>A (p.Ser694Ter)	SCN1A (S665* +4 more)	Single nucleotide variant (nonsense +2 more)	Seizure	GLikely pathogenic
Select item 1701083	NM_006009.4(TUBA1A):c.848A>G (p.His283Arg)	TUBA1A (H248R +1 more)	Single nucleotide variant (missense variant)	Seizure	GLikely pathogenic
Select item 1701082	NM_006593.4(TBR1):c.581C>T (p.Ser194Phe)	TBR1 (S194F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1701080	NM_006922.4(SCN3A):c.4318G>A (p.Glu1440Lys)	SCN3A (E1391K +1 more)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 1701079	NM_006922.4(SCN3A):c.2264T>C (p.Leu755Ser)	SCN3A (L706S +1 more)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 1701077	NM_001165963.4(SCN1A):c.1439C>G (p.Ser480Ter)	SCN1A (S479* +1 more)	Single nucleotide variant (nonsense +2 more)	Seizure	GPathogenic
Select item 1701076	NM_001367721.1(CASK):c.1847A>G (p.Tyr616Cys)	CASK (Y587C +3 more)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 1701075	NM_001165963.4(SCN1A):c.2226del (p.Asn743fs)	SCN1A (N714fs +4 more)	Deletion (frameshift variant +2 more)	Seizure	GPathogenic
Select item 1701074	NM_001165963.4(SCN1A):c.1157dup (p.Asn386fs)	SCN1A (N386fs)	Duplication (frameshift variant +2 more)	Seizure	GPathogenic
Select item 1701073	NM_001165963.4(SCN1A):c.2868G>T (p.Met956Ile)	SCN1A (M142I +5 more)	Single nucleotide variant (missense variant +1 more)	Seizure	GLikely pathogenic
Select item 1701071	NM_005045.4(RELN):c.4067A>C (p.Glu1356Ala)	RELN (E1356A)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 1701069	NM_000944.5(PPP3CA):c.760del (p.Arg254fs)	PPP3CA (R254fs)	Deletion (frameshift variant)	Seizure	GUncertain significance
Select item 1701065	NM_002547.3(OPHN1):c.1045C>T (p.Gln349Ter)	OPHN1 (Q349*)	Single nucleotide variant (nonsense)	Seizure	GPathogenic
Select item 1701063	NM_005654.6(NR2F1):c.278C>T (p.Ser93Leu)	NR2F1, NR2F1-AS1 (S93L)	Single nucleotide variant (missense variant)	Seizure	GLikely pathogenic
Select item 1701062	NM_001144967.3(NEDD4L):c.1402C>T (p.Arg468Trp)	NEDD4L (R327W +6 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1701059	NM_004519.4(KCNQ3):c.509A>G (p.Glu170Gly)	KCNQ3 (E170G +1 more)	Single nucleotide variant (missense variant)	Seizure	GPathogenic
Select item 1701058	NM_172107.4(KCNQ2):c.2363T>C (p.Ile788Thr)	KCNQ2 (I757T +4 more)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 1701057	NM_001112741.2(KCNC1):c.1595T>A (p.Leu532Gln)	KCNC1 (L532Q)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 1701056	NM_021072.4(HCN1):c.1618+2T>A	HCN1	Single nucleotide variant (splice donor variant)	Seizure	GUncertain significance
Select item 1701055	NM_021072.4(HCN1):c.1606T>G (p.Ser536Ala)	HCN1 (S536A)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 1701054	NM_001194.4(HCN2):c.1417C>T (p.Arg473Trp)	HCN2 (R473W)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 1701053	NM_000836.4(GRIN2D):c.655G>C (p.Gly219Arg)	GRIN2D (G219R)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 1701051	NM_198904.4(GABRG2):c.626C>A (p.Ser209Tyr)	GABRG2 (S114Y +5 more)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 1701050	NM_001099922.3(ALG13):c.1730-4A>T	ALG13	Single nucleotide variant (intron variant)	Seizure	GUncertain significance
Select item 1701048	NM_001110556.2(FLNA):c.7775T>G (p.Val2592Gly)	FLNA, LOC107988032 (V2584G +1 more)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 1701047	NM_001958.5(EEF1A2):c.1261C>T (p.Leu421Phe)	EEF1A2 (L421F)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 1701044	NM_001242896.3(DEPDC5):c.3264+1G>C	DEPDC5	Single nucleotide variant (splice donor variant)	Seizure	GLikely pathogenic
Select item 1701042	NM_001282531.3(ADNP):c.1084C>G (p.Gln362Glu)	ADNP (Q362E)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 1701039	NM_001079872.2(CUL4B):c.1121A>G (p.Glu374Gly)	CUL4B (E196G +3 more)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance

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