List of variants reported as uncertain significance for Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart

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

Total variants: 94

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HGVS	dbSNP	gnomAD frequency
NM_001042681.2(RERE):c.697G>A (p.Val233Ile)	rs147116390	0.00048
NM_001042681.2(RERE):c.3094C>T (p.Pro1032Ser)	rs560145297	0.00020
NM_001042681.2(RERE):c.2422C>A (p.Pro808Thr)	rs957128425	0.00004
NM_001042681.2(RERE):c.522+3644C>T	rs894535960	0.00004
NM_001042681.2(RERE):c.1712G>A (p.Ser571Asn)	rs1048848500	0.00003
NM_001042681.2(RERE):c.2507C>T (p.Pro836Leu)	rs1239182312	0.00003
NM_001042681.2(RERE):c.2764C>G (p.Pro922Ala)	rs571471435	0.00002
NM_001042681.2(RERE):c.4354G>A (p.Val1452Ile)	rs751496233	0.00002
NM_001042681.2(RERE):c.116G>A (p.Arg39Gln)	rs199717815	0.00001
NM_001042681.2(RERE):c.1768A>C (p.Lys590Gln)	rs762635516	0.00001
NM_001042681.2(RERE):c.2122A>G (p.Asn708Asp)	rs1641575192	0.00001
NM_001042681.2(RERE):c.2462C>T (p.Ser821Leu)	rs1057518295	0.00001
NM_001042681.2(RERE):c.2557G>A (p.Gly853Ser)	rs1297285666	0.00001
NM_001042681.2(RERE):c.2720T>C (p.Leu907Pro)	rs769674978	0.00001
NM_001042681.2(RERE):c.3265C>G (p.Pro1089Ala)	rs1259871272	0.00001
NM_001042681.2(RERE):c.3292C>G (p.Leu1098Val)	rs1215653376	0.00001
NM_001042681.2(RERE):c.3466G>A (p.Gly1156Arg)	rs766951273	0.00001
NM_001042681.2(RERE):c.3847C>T (p.Pro1283Ser)	rs778692247	0.00001
NM_001042681.2(RERE):c.43C>T (p.Arg15Trp)	rs1244831205	0.00001
NM_001042681.2(RERE):c.1104+1G>C
NM_001042681.2(RERE):c.1190C>T (p.Thr397Ile)	rs1557644694
NM_001042681.2(RERE):c.1198G>A (p.Glu400Lys)
NM_001042681.2(RERE):c.1203+3653A>G	rs2124113169
NM_001042681.2(RERE):c.1276A>C (p.Lys426Gln)	rs2124472392
NM_001042681.2(RERE):c.1343G>A (p.Arg448Gln)	rs2124378791
NM_001042681.2(RERE):c.137G>T (p.Gly46Val)
NM_001042681.2(RERE):c.143A>G (p.Lys48Arg)
NM_001042681.2(RERE):c.14A>G (p.Lys5Arg)	rs1553128615
NM_001042681.2(RERE):c.1681_1684del (p.Glu561fs)	rs1641706044
NM_001042681.2(RERE):c.1735G>A (p.Gly579Ser)
NM_001042681.2(RERE):c.1762C>T (p.Arg588Trp)	rs1641641189
NM_001042681.2(RERE):c.1934_1936del (p.Lys645del)
NM_001042681.2(RERE):c.1937G>C (p.Ser646Thr)
NM_001042681.2(RERE):c.2134T>C (p.Ser712Pro)	rs1570039432
NM_001042681.2(RERE):c.215C>G (p.Thr72Arg)
NM_001042681.2(RERE):c.224A>G (p.Asn75Ser)
NM_001042681.2(RERE):c.2285C>T (p.Pro762Leu)
NM_001042681.2(RERE):c.2300C>T (p.Thr767Met)
NM_001042681.2(RERE):c.2336_2347dup (p.Ser782_Gln783insProThrAlaSer)
NM_001042681.2(RERE):c.238C>T (p.Pro80Ser)
NM_001042681.2(RERE):c.241A>G (p.Lys81Glu)	rs1638277978
NM_001042681.2(RERE):c.2498C>T (p.Ala833Val)
NM_001042681.2(RERE):c.2519C>T (p.Ser840Phe)	rs1031152969
NM_001042681.2(RERE):c.2530C>T (p.Pro844Ser)
NM_001042681.2(RERE):c.2565C>A (p.His855Gln)	rs1641546992
NM_001042681.2(RERE):c.2624C>T (p.Pro875Leu)
NM_001042681.2(RERE):c.2626C>T (p.Pro876Ser)
NM_001042681.2(RERE):c.2629C>A (p.Gln877Lys)
NM_001042681.2(RERE):c.2650C>T (p.Pro884Ser)
NM_001042681.2(RERE):c.2675C>T (p.Ala892Val)
NM_001042681.2(RERE):c.2741G>A (p.Arg914Gln)
NM_001042681.2(RERE):c.2784C>G (p.Ile928Met)
NM_001042681.2(RERE):c.2794C>G (p.Pro932Ala)
NM_001042681.2(RERE):c.2814G>C (p.Gln938His)
NM_001042681.2(RERE):c.2819C>T (p.Pro940Leu)
NM_001042681.2(RERE):c.2963T>A (p.Leu988Gln)
NM_001042681.2(RERE):c.3060C>A (p.His1020Gln)
NM_001042681.2(RERE):c.3065C>T (p.Pro1022Leu)
NM_001042681.2(RERE):c.3095C>A (p.Pro1032His)	rs1479474517
NM_001042681.2(RERE):c.3136C>G (p.Pro1046Ala)	rs977359991
NM_001042681.2(RERE):c.3136C>T (p.Pro1046Ser)
NM_001042681.2(RERE):c.3158C>T (p.Pro1053Leu)	rs1641510834
NM_001042681.2(RERE):c.3221C>A (p.Ala1074Glu)	rs764784467
NM_001042681.2(RERE):c.326-8998C>A	rs1321833811
NM_001042681.2(RERE):c.3346C>A (p.Pro1116Thr)	rs1557585339
NM_001042681.2(RERE):c.3379G>A (p.Ala1127Thr)
NM_001042681.2(RERE):c.33_38del (p.Glu12_Lys13del)
NM_001042681.2(RERE):c.3436C>T (p.Arg1146Trp)	rs1178020687
NM_001042681.2(RERE):c.3466G>T (p.Gly1156Trp)	rs766951273
NM_001042681.2(RERE):c.3479C>T (p.Ala1160Val)	rs1641487262
NM_001042681.2(RERE):c.3481A>G (p.Lys1161Glu)
NM_001042681.2(RERE):c.3531A>C (p.Lys1177Asn)
NM_001042681.2(RERE):c.3535C>T (p.Arg1179Ter)
NM_001042681.2(RERE):c.3587G>A (p.Arg1196Gln)	rs1408948503
NM_001042681.2(RERE):c.3591G>T (p.Glu1197Asp)	rs2124364110
NM_001042681.2(RERE):c.3635C>T (p.Ala1212Val)
NM_001042681.2(RERE):c.3803C>A (p.Thr1268Asn)	rs1641415262
NM_001042681.2(RERE):c.3914G>A (p.Arg1305Gln)
NM_001042681.2(RERE):c.3940A>C (p.Ile1314Leu)
NM_001042681.2(RERE):c.3974C>T (p.Pro1325Leu)
NM_001042681.2(RERE):c.3999G>C (p.Glu1333Asp)	rs868002362
NM_001042681.2(RERE):c.4042G>T (p.Ala1348Ser)	rs1641392810
NM_001042681.2(RERE):c.4220C>G (p.Ala1407Gly)
NM_001042681.2(RERE):c.4331T>G (p.Leu1444Arg)
NM_001042681.2(RERE):c.4399C>G (p.Arg1467Gly)
NM_001042681.2(RERE):c.4412C>T (p.Pro1471Leu)
NM_001042681.2(RERE):c.4457A>G (p.Glu1486Gly)
NM_001042681.2(RERE):c.4571C>T (p.Ser1524Leu)	rs1641253525
NM_001042681.2(RERE):c.635G>A (p.Gly212Glu)	rs1646009052
NM_001042681.2(RERE):c.707A>G (p.Tyr236Cys)	rs1570434132
NM_001042681.2(RERE):c.831-3dup
NM_001042681.2(RERE):c.890C>T (p.Pro297Leu)	rs1645061321
NM_001042681.2(RERE):c.938A>G (p.His313Arg)
NM_001042681.2:c.325+153_326-10741del

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