ClinVar for MedGen (Select 934739) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064772	NM_001042681.2(RERE):c.831-3dup	RERE	Duplication (intron variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 2672199	NM_001042681.2(RERE):c.4457A>G (p.Glu1486Gly)	RERE (E1486G +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 2664059	NM_001042681.2(RERE):c.1937G>C (p.Ser646Thr)	RERE (S646T +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 2585033	NM_001042681.2(RERE):c.2819C>T (p.Pro940Leu)	RERE (P386L +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 2584617	NM_001042681.2:c.325+153_326-10741del	RERE	Deletion	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 2582338	NM_001042681.2(RERE):c.2626C>T (p.Pro876Ser)	RERE (P322S +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 2578551	NM_001042681.2(RERE):c.3060C>A (p.His1020Gln)	RERE (H1020Q +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 2495112	NM_001042681.2(RERE):c.2963T>A (p.Leu988Gln)	RERE (L434Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2442107	NM_001042681.2(RERE):c.4307_4318del (p.Leu1436_His1439del)	RERE	Deletion (inframe_deletion)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GLikely pathogenic
Select item 2441844	NM_001042681.2(RERE):c.137G>T (p.Gly46Val)	RERE (G46V)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 2435417	NM_001042681.2(RERE):c.2675C>T (p.Ala892Val)	RERE (A338V +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 2435416	NM_001042681.2(RERE):c.4399C>G (p.Arg1467Gly)	RERE (R1467G +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 2435415	NM_001042681.2(RERE):c.4331T>G (p.Leu1444Arg)	RERE (L1444R +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 2435414	NM_001042681.2(RERE):c.3481A>G (p.Lys1161Glu)	RERE (K1161E +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 2435413	NM_001042681.2(RERE):c.2530C>T (p.Pro844Ser)	RERE (P290S +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart +1 more	GUncertain significance
Select item 2435412	NM_001042681.2(RERE):c.2741G>A (p.Arg914Gln)	RERE (R360Q +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 2435411	NM_001042681.2(RERE):c.3531A>C (p.Lys1177Asn)	RERE (K1177N +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 2435410	NM_001042681.2(RERE):c.3379G>A (p.Ala1127Thr)	RERE (A1127T +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 2435409	NM_001042681.2(RERE):c.2285C>T (p.Pro762Leu)	RERE (P208L +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 2435408	NM_001042681.2(RERE):c.1934_1936del (p.Lys645del)	RERE (K645del +1 more)	Deletion (inframe_deletion)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart +1 more	GUncertain significance
Select item 2435407	NM_001042681.2(RERE):c.3914G>A (p.Arg1305Gln)	RERE (R1305Q +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 2435406	NM_001042681.2(RERE):c.1735G>A (p.Gly579Ser)	RERE (G25S +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 2435405	NM_001042681.2(RERE):c.2336_2347dup (p.Ser782_Gln783insProThrAlaSer)	RERE	Duplication (inframe_insertion)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 2435404	NM_001042681.2(RERE):c.33_38del (p.Glu12_Lys13del)	RERE	Deletion (inframe_deletion)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 2435403	NM_001042681.2(RERE):c.3940A>C (p.Ile1314Leu)	RERE (I1314L +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 2435402	NM_001042681.2(RERE):c.3136C>T (p.Pro1046Ser)	RERE (P1046S +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 2435401	NM_001042681.2(RERE):c.238C>T (p.Pro80Ser)	RERE (P80S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 2435400	NM_001042681.2(RERE):c.143A>G (p.Lys48Arg)	RERE (K48R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 2435399	NM_001042681.2(RERE):c.4412C>T (p.Pro1471Leu)	RERE (P1471L +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 2435398	NM_001042681.2(RERE):c.224A>G (p.Asn75Ser)	RERE (N75S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 2435397	NM_001042681.2(RERE):c.938A>G (p.His313Arg)	RERE (H313R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 2429919	NM_001042681.2(RERE):c.2638_2644del (p.Gln880fs)	RERE (Q326fs +1 more)	Deletion (frameshift variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GPathogenic
Select item 2369289	NM_001042681.2(RERE):c.2300C>T (p.Thr767Met)	RERE (T213M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2159150	NM_001042681.2(RERE):c.3635C>T (p.Ala1212Val)	RERE (A658V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1806269	NM_001042681.2(RERE):c.2650C>T (p.Pro884Ser)	RERE (P330S +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 1806209	NM_001042681.2(RERE):c.142A>G (p.Lys48Glu)	RERE (K48E)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GLikely benign
Select item 1805160	NM_001042681.2(RERE):c.2814G>C (p.Gln938His)	RERE (Q384H +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 1805117	NM_001042681.2(RERE):c.2629C>A (p.Gln877Lys)	RERE (Q323K +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 1709777	NM_001042681.2(RERE):c.348del (p.Arg117fs)	RERE (R117fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GLikely pathogenic
Select item 1709710	NM_001042681.2(RERE):c.2721_2722delinsAT (p.Gln908Ter)	RERE (Q354* +1 more)	Indel (nonsense)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GLikely pathogenic
Select item 1708557	NM_001042681.2(RERE):c.2794C>G (p.Pro932Ala)	RERE (P378A +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 1705338	NM_001042681.2(RERE):c.3493_3504del (p.Glu1165_Glu1168del)	RERE	Deletion (inframe_deletion)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GLikely pathogenic
Select item 1701640	NM_001042681.2(RERE):c.3591G>T (p.Glu1197Asp)	RERE (E1197D +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 1699384	NM_001042681.2(RERE):c.3136C>G (p.Pro1046Ala)	RERE (P1046A +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 1699314	NM_001042681.2(RERE):c.2565C>A (p.His855Gln)	RERE (H301Q +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 1698815	NM_001042681.2(RERE):c.43C>T (p.Arg15Trp)	RERE (R15W)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 1696688	NM_001042681.2(RERE):c.522+3644C>T	RERE	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 1696298	NM_001042681.2(RERE):c.2557G>A (p.Gly853Ser)	RERE (G299S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1686125	NM_001042681.2(RERE):c.4427C>T (p.Pro1476Leu)	RERE (P1476L +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GPathogenic
Select item 1683525	NM_001042681.2(RERE):c.1343G>A (p.Arg448Gln)	RERE (R448Q)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 1676519	NM_012102.4(RERE):c.70_73dup (p.Lys25fs)	RERE (K25fs)	Microsatellite	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GLikely pathogenic
Select item 1599655	NM_001042681.2(RERE):c.1524C>T (p.Arg508=)	RERE	Single nucleotide variant (synonymous variant +1 more)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart +2 more	GBenign/Likely benign
Select item 1552098	NM_001042681.2(RERE):c.697G>A (p.Val233Ile)	RERE (V233I)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart +3 more	GConflicting classifications of pathogenicity
Select item 1526145	NM_001042681.2(RERE):c.452dup (p.Ala152fs)	RERE (A152fs)	Duplication (frameshift variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart +1 more	GPathogenic/Likely pathogenic
Select item 1343634	NM_001042681.2(RERE):c.1541-1G>T	RERE	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GLikely pathogenic
Select item 1341905	NM_001042681.2(RERE):c.116G>A (p.Arg39Gln)	RERE (R39Q)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 1333758	NM_001042681.2(RERE):c.2122A>G (p.Asn708Asp)	RERE (N154D +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 1330773	NM_001042681.2(RERE):c.1276A>C (p.Lys426Gln)	RERE (K426Q)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 1327947	NM_001042681.2(RERE):c.2364A>G (p.Pro788=)	RERE	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GBenign
Select item 1327946	NM_001042681.2(RERE):c.2475G>A (p.Pro825=)	RERE	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GBenign
Select item 1327945	NM_001042681.2(RERE):c.3945A>G (p.Arg1315=)	RERE	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1327944	NM_001042681.2(RERE):c.3951G>T (p.Arg1317=)	RERE	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1325005	NM_001042681.2(RERE):c.4023_4024insT (p.Asn1342Ter)	RERE (N1342* +1 more)	Insertion (nonsense)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GLikely pathogenic
Select item 1310384	NM_001042681.2(RERE):c.1762C>T (p.Arg588Trp)	RERE (R34W +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart +1 more	GUncertain significance
Select item 1213712	NM_001042681.2(RERE):c.1712G>A (p.Ser571Asn)	RERE (S17N +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 1212133	NM_001042681.2(RERE):c.3436C>T (p.Arg1146Trp)	RERE (R1146W +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart +1 more	GUncertain significance
Select item 1184422	NM_001042681.2(RERE):c.2764C>G (p.Pro922Ala)	RERE (P368A +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 1184388	NM_001042681.2(RERE):c.1203+3653A>G	RERE	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 1184385	NM_001042681.2(RERE):c.1190C>T (p.Thr397Ile)	RERE (T397I)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 1184294	NM_001042681.2(RERE):c.326-8998C>A	RERE	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 1048912	NM_001042681.2(RERE):c.3847C>T (p.Pro1283Ser)	RERE (P1283S +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart +2 more	GConflicting classifications of pathogenicity
Select item 1031740	NM_001042681.2(RERE):c.4571C>T (p.Ser1524Leu)	RERE (S970L +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 1031739	NM_001042681.2(RERE):c.2720T>C (p.Leu907Pro)	RERE (L353P +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 1031185	NM_001042681.2(RERE):c.4042G>T (p.Ala1348Ser)	RERE (A1348S +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 1031184	NM_001042681.2(RERE):c.3999G>C (p.Glu1333Asp)	RERE (E779D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1031183	NM_001042681.2(RERE):c.3803C>A (p.Thr1268Asn)	RERE (T714N +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart +1 more	GUncertain significance
Select item 1031182	NM_001042681.2(RERE):c.3479C>T (p.Ala1160Val)	RERE (A606V +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 1031181	NM_001042681.2(RERE):c.3221C>A (p.Ala1074Glu)	RERE (A520E +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 1031180	NM_001042681.2(RERE):c.3158C>T (p.Pro1053Leu)	RERE (P1053L +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart +1 more	GUncertain significance
Select item 1031179	NM_001042681.2(RERE):c.3095C>A (p.Pro1032His)	RERE (P478H +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 1031178	NM_001042681.2(RERE):c.2519C>T (p.Ser840Phe)	RERE (S286F +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 1031177	NM_001042681.2(RERE):c.1681_1684del (p.Glu561fs)	RERE (E561fs +1 more)	Deletion (frameshift variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GConflicting classifications of pathogenicity
Select item 1027760	NM_001042681.2(RERE):c.890C>T (p.Pro297Leu)	RERE (P297L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 996896	NM_001042681.2(RERE):c.3094C>T (p.Pro1032Ser)	RERE (P1032S +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 986414	NM_001042681.2(RERE):c.3466G>T (p.Gly1156Trp)	RERE (G1156W +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 982578	NM_001042681.2(RERE):c.4354G>A (p.Val1452Ile)	RERE (V1452I +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart +1 more	GUncertain significance
Select item 976254	NM_001042681.2(RERE):c.2861C>T (p.Pro954Leu)	RERE (P400L +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GBenign
Select item 932086	NM_001042681.2(RERE):c.2422C>A (p.Pro808Thr)	RERE (P254T +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 931352	NM_001042681.2(RERE):c.3587G>A (p.Arg1196Gln)	RERE (R642Q +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 930704	NM_001042681.2(RERE):c.635G>A (p.Gly212Glu)	RERE (G212E)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 930549	NM_001042681.2(RERE):c.2507C>T (p.Pro836Leu)	RERE (P836L +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 930458	NM_001042681.2(RERE):c.241A>G (p.Lys81Glu)	RERE (K81E)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 813923	NM_001042681.2(RERE):c.707A>G (p.Tyr236Cys)	RERE (Y236C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 783922	NM_001042681.2(RERE):c.4528C>A (p.Pro1510Thr)	RERE (P1510T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 777879	NM_001042681.2(RERE):c.3556AAGGAG[4] (p.1186KE[4])	RERE	Microsatellite (inframe_insertion)	not provided +2 more	GBenign
Select item 721969	NM_001042681.2(RERE):c.3696C>T (p.Phe1232=)	RERE	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart +2 more	GBenign/Likely benign
Select item 715993	NM_001042681.2(RERE):c.3556AAGGAG[2] (p.1186KE[2])	RERE	Microsatellite (inframe_deletion)	RERE-related condition +2 more	GBenign/Likely benign
Select item 710835	NM_001042681.2(RERE):c.3570GGAGCG[4] (p.1192RE[6])	RERE	Microsatellite (inframe_insertion)	RERE-related condition +2 more	GBenign/Likely benign
Select item 638397	NM_001042681.2(RERE):c.2134T>C (p.Ser712Pro)	RERE (S712P +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 587517	NM_001042681.2(RERE):c.3346C>A (p.Pro1116Thr)	RERE (P1116T +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance

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