List of variants reported as uncertain significance for electroclinical syndrome by Baylor Genetics

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 99

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HGVS	dbSNP	gnomAD frequency
NM_021098.3(CACNA1H):c.2626G>A (p.Ala876Thr)	rs58173258	0.00169
NM_021927.3(GUF1):c.1934A>G (p.Lys645Arg)	rs139919081	0.00047
NM_015192.4(PLCB1):c.1526C>T (p.Thr509Met)	rs150686631	0.00034
NM_015192.4(PLCB1):c.2570C>T (p.Thr857Met)	rs184436336	0.00030
NM_021927.3(GUF1):c.1954G>A (p.Val652Ile)	rs201662175	0.00009
NM_001134407.3(GRIN2A):c.4170G>A (p.Ser1390=)	rs1057522803	0.00006
NM_021098.3(CACNA1H):c.1768C>T (p.Arg590Trp)	rs199920661	0.00005
NM_001191061.2(SLC25A22):c.190G>A (p.Gly64Ser)	rs774766308	0.00003
NM_021098.3(CACNA1H):c.2228C>T (p.Thr743Met)	rs574809183	0.00003
NM_005076.5(CNTN2):c.2111G>A (p.Arg704Gln)	rs139732381	0.00002
NM_018100.4(EFHC1):c.1096C>T (p.Arg366Cys)	rs573582894	0.00002
NM_021098.3(CACNA1H):c.2152G>C (p.Glu718Gln)	rs774313309	0.00002
NM_173354.5(SIK1):c.2012C>T (p.Pro671Leu)	rs768025261	0.00002
NM_173354.5(SIK1):c.2034G>T (p.Gln678His)	rs775749558	0.00002
NM_001130438.3(SPTAN1):c.4133T>C (p.Leu1378Pro)	rs776728710	0.00001
NM_001323289.2(CDKL5):c.1676G>A (p.Arg559Gln)	rs1926294168	0.00001
NM_001323289.2(CDKL5):c.743G>A (p.Arg248Gln)	rs1064795857	0.00001
NM_003159.3(CDKL5):c.2809_2810insA (p.Cys937Ter)	rs1158418673	0.00001
NM_004408.4(DNM1):c.2076+4C>T	rs374379668	0.00001
NM_004408.4(DNM1):c.386-8C>T	rs764950748	0.00001
NM_004519.4(KCNQ3):c.477G>A (p.Leu159=)	rs1826947671	0.00001
NM_006279.5(ST3GAL3):c.303-9A>G	rs762536905	0.00001
NM_006279.5(ST3GAL3):c.631G>A (p.Glu211Lys)	rs1448699021	0.00001
NM_015192.4(PLCB1):c.1537G>A (p.Asp513Asn)	rs764250569	0.00001
NM_018100.4(EFHC1):c.1640+19G>C	rs1303813611	0.00001
NM_021098.3(CACNA1H):c.2704C>T (p.Arg902Trp)	rs779011503	0.00001
NM_021098.3(CACNA1H):c.2730G>C (p.Lys910Asn)	rs1330732054	0.00001
NM_021098.3(CACNA1H):c.2789+16C>T	rs59952053	0.00001
NM_021098.3(CACNA1H):c.5798T>C (p.Met1933Thr)	rs1175867441	0.00001
NM_021098.3(CACNA1H):c.6191C>T (p.Pro2064Leu)	rs1199118621	0.00001
NM_021098.3(CACNA1H):c.6965G>A (p.Arg2322Gln)	rs1468102052	0.00001
NM_021098.3(CACNA1H):c.974C>T (p.Pro325Leu)	rs375274586	0.00001
NM_000682.7(ADRA2B):c.274G>A (p.Asp92Asn)	rs1397681630
NM_000682.7(ADRA2B):c.649G>A (p.Glu217Lys)	rs371934652
NM_000682.7(ADRA2B):c.664C>T (p.Arg222Ter)	rs786205528
NM_000814.6(GABRB3):c.679A>C (p.Thr227Pro)	rs1890741727
NM_000834.5(GRIN2B):c.1937A>G (p.Tyr646Cys)	rs1565474582
NM_000834.5(GRIN2B):c.2273_2281del (p.Ala758_Thr760del)	rs1565457062
NM_000834.5(GRIN2B):c.2450A>G (p.Asn817Ser)	rs1555103159
NM_000834.5(GRIN2B):c.3646C>T (p.Arg1216Cys)	rs199834850
NM_000834.5(GRIN2B):c.4307G>C (p.Gly1436Ala)	rs1565452616
NM_001040142.2(SCN2A):c.3849+4A>G	rs1700958754
NM_001130438.3(SPTAN1):c.1972A>C (p.Ser658Arg)
NM_001130438.3(SPTAN1):c.2422G>T (p.Ala808Ser)	rs766491965
NM_001130438.3(SPTAN1):c.3775G>A (p.Asp1259Asn)	rs1855652617
NM_001130438.3(SPTAN1):c.3991C>A (p.Arg1331Ser)	rs1407200590
NM_001130438.3(SPTAN1):c.4350C>A (p.Phe1450Leu)
NM_001130438.3(SPTAN1):c.6661G>A (p.Ala2221Thr)	rs1858943245
NM_001130438.3(SPTAN1):c.7160+5_7160+9del	rs747442396
NM_001134407.3(GRIN2A):c.1087G>T (p.Val363Leu)	rs2043684301
NM_001134407.3(GRIN2A):c.1313A>G (p.Lys438Arg)	rs2042848665
NM_001134407.3(GRIN2A):c.1516G>A (p.Val506Ile)	rs368188808
NM_001134407.3(GRIN2A):c.1913C>T (p.Ala638Val)	rs1567329011
NM_001134407.3(GRIN2A):c.2748C>G (p.Asp916Glu)
NM_001134407.3(GRIN2A):c.288C>G (p.His96Gln)	rs74853460
NM_001134407.3(GRIN2A):c.3064C>A (p.Arg1022Ser)	rs560057284
NM_001134407.3(GRIN2A):c.3230G>C (p.Ser1077Thr)	rs1427368529
NM_001134407.3(GRIN2A):c.3379G>C (p.Gly1127Arg)	rs1360004561
NM_001134407.3(GRIN2A):c.3896C>G (p.Pro1299Arg)	rs1156972587
NM_001134407.3(GRIN2A):c.3979A>G (p.Ser1327Gly)
NM_001134407.3(GRIN2A):c.4234T>A (p.Cys1412Ser)	rs1262702313
NM_001134407.3(GRIN2A):c.67_81del (p.Pro23_Ala27del)	rs775540481
NM_001191061.2(SLC25A22):c.658GAG[1] (p.Glu221del)	rs1307254132
NM_001271.4(CHD2):c.1937G>A (p.Gly646Glu)	rs1567141162
NM_001271.4(CHD2):c.3284C>G (p.Ala1095Gly)	rs2054031451
NM_001271.4(CHD2):c.3423G>A (p.Lys1141=)	rs2054119126
NM_001271.4(CHD2):c.3920G>A (p.Gly1307Glu)	rs2054212404
NM_001271.4(CHD2):c.4637G>A (p.Arg1546Gln)	rs1430565994
NM_001271.4(CHD2):c.4892A>C (p.His1631Pro)	rs2054438338
NM_001271.4(CHD2):c.5443C>A (p.Gln1815Lys)
NM_001323289.2(CDKL5):c.2375C>G (p.Thr792Arg)
NM_001323289.2(CDKL5):c.409A>G (p.Lys137Glu)	rs1569214324
NM_001323289.2(CDKL5):c.818T>C (p.Leu273Pro)	rs1569217205
NM_001330260.2(SCN8A):c.1676A>G (p.His559Arg)
NM_001330260.2(SCN8A):c.4082C>G (p.Ser1361Cys)
NM_001330260.2(SCN8A):c.5307C>A (p.Phe1769Leu)
NM_001330260.2(SCN8A):c.548G>C (p.Cys183Ser)	rs1941432230
NM_004171.4(SLC1A2):c.555T>A (p.Phe185Leu)	rs751782700
NM_004171.4(SLC1A2):c.607G>A (p.Glu203Lys)	rs1400780690
NM_004408.4(DNM1):c.395T>G (p.Leu132Arg)
NM_004519.4(KCNQ3):c.1199G>A (p.Arg400Lys)	rs943073757
NM_004519.4(KCNQ3):c.1941G>A (p.Met647Ile)	rs1227129126
NM_004519.4(KCNQ3):c.2129A>G (p.Tyr710Cys)	rs1060500605
NM_005076.5(CNTN2):c.2431+5G>A	rs1380526589
NM_005076.5(CNTN2):c.2983C>T (p.Pro995Ser)	rs1654685363
NM_015192.4(PLCB1):c.3136G>T (p.Ala1046Ser)	rs778097231
NM_015192.4(PLCB1):c.665G>A (p.Arg222Gln)	rs755135706
NM_018100.4(EFHC1):c.943A>T (p.Ile315Phe)	rs1057521631
NM_021098.3(CACNA1H):c.145T>C (p.Ser49Pro)	rs1397714230
NM_021098.3(CACNA1H):c.3599A>C (p.Asp1200Ala)	rs1555515661
NM_021098.3(CACNA1H):c.3804C>G (p.Ser1268Arg)	rs750607074
NM_021098.3(CACNA1H):c.3929C>T (p.Thr1310Ile)	rs949144433
NM_021098.3(CACNA1H):c.502G>A (p.Gly168Ser)	rs1966875937
NM_021098.3(CACNA1H):c.6131C>A (p.Thr2044Asn)	rs1567558436
NM_139058.3(ARX):c.771C>T (p.Arg257=)	rs1601948418
NM_139058.3(ARX):c.80A>C (p.Tyr27Ser)	rs2048724116
NM_172107.4(KCNQ2):c.601C>T (p.Arg201Cys)	rs796052623
NM_173354.5(SIK1):c.1904C>T (p.Pro635Leu)	rs779904079
NM_173354.5(SIK1):c.468G>A (p.Leu156=)	rs2081056659

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