ClinVar for MedGen (Select 1737097) - ClinVar

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Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235040	NM_001385012.1(NBEA):c.14A>G (p.Lys5Arg)	NBEA (K5R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 3234850	NM_001385012.1(NBEA):c.3491G>A (p.Ser1164Asn)	NBEA (S1164N)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 3068462	NM_001385012.1(NBEA):c.2086C>T (p.Arg696Ter)	NBEA (R696*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GLikely pathogenic
Select item 3067983	NM_001385012.1(NBEA):c.2070G>T (p.Gln690His)	NBEA (Q690H)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 3066033	NM_001385012.1(NBEA):c.6117dup (p.Lys2040fs)	NBEA (K2037fs +1 more)	Duplication (frameshift variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 3065998	NM_001385012.1(NBEA):c.8596C>T (p.Arg2866Ter)	NBEA (R2845* +3 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GLikely pathogenic
Select item 3065941	NM_001385012.1(NBEA):c.38A>C (p.Glu13Ala)	NBEA (E13A)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 3065309	NM_001385012.1(NBEA):c.7694A>G (p.Gln2565Arg)	NBEA (Q2544R +3 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 3024200	NM_001385012.1(NBEA):c.4715C>A (p.Ser1572Ter)	NBEA (S1569* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GLikely pathogenic
Select item 2920698	NM_001385012.1(NBEA):c.2578G>T (p.Glu860Ter)	NBEA (E860*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GLikely pathogenic
Select item 2692332	NM_001385012.1(NBEA):c.8662-1G>A	NBEA	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 2689540	NM_001385012.1(NBEA):c.1832A>G (p.Lys611Arg)	NBEA (K611R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 2689539	NM_001385012.1(NBEA):c.6118A>G (p.Lys2040Glu)	NBEA (K2037E +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 2689538	NM_001385012.1(NBEA):c.5521+4T>G	NBEA	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 2689537	NM_001385012.1(NBEA):c.3052T>G (p.Tyr1018Asp)	NBEA (Y1018D)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 2689536	NM_001385012.1(NBEA):c.2924A>G (p.Lys975Arg)	NBEA (K975R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 2671918	NM_001385012.1(NBEA):c.2657T>A (p.Leu886Ter)	NBEA (L886*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GPathogenic
Select item 2663954	NM_001385012.1(NBEA):c.6166G>A (p.Ala2056Thr)	NBEA (A2053T +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 2661901	NM_001385012.1(NBEA):c.7541C>T (p.Ala2514Val)	NBEA (A2511V +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 2613090	NM_001385012.1(NBEA):c.3421A>G (p.Asn1141Asp)	NBEA (N1141D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2585622	NM_001385012.1(NBEA):c.2864A>G (p.Lys955Arg)	NBEA (K955R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 2582442	NM_001385012.1(NBEA):c.3911dup (p.Asp1304fs)	NBEA (D1304fs)	Duplication (frameshift variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GPathogenic
Select item 2572437	NM_001385012.1(NBEA):c.8321G>A (p.Trp2774Ter)	NBEA (W2753* +3 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GLikely pathogenic
Select item 2572436	NM_001385012.1(NBEA):c.3001C>T (p.Arg1001Ter)	NBEA (R1001*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GLikely pathogenic
Select item 2571597	NM_001385012.1(NBEA):c.1747G>A (p.Gly583Ser)	NBEA (G583S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GLikely benign
Select item 2506988	NM_001385012.1(NBEA):c.850C>T (p.Arg284Cys)	NBEA (R284C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 2502843	NM_001385012.1(NBEA):c.6707del (p.Thr2235_Ser2236insTer)	NBEA	Deletion (nonsense)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GLikely pathogenic
Select item 2498379	NM_001385012.1(NBEA):c.8011C>T (p.Pro2671Ser)	NBEA (P2650S +3 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 2444422	NM_001385012.1(NBEA):c.8660G>A (p.Arg2887Gln)	NBEA (R2866Q +3 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 2442221	NM_001385012.1(NBEA):c.3047C>A (p.Thr1016Asn)	NBEA (T1016N)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 2442216	NM_001385012.1(NBEA):c.3469A>G (p.Lys1157Glu)	NBEA (K1157E)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 2434064	NM_001385012.1(NBEA):c.3239C>G (p.Thr1080Ser)	NBEA (T1080S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 2434063	NM_001385012.1(NBEA):c.7201A>G (p.Asn2401Asp)	NBEA (N194D +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 2434062	NM_001385012.1(NBEA):c.8711A>G (p.Asn2904Ser)	NBEA (N2883S +3 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 2434061	NM_001385012.1(NBEA):c.3008T>C (p.Ile1003Thr)	NBEA (I1003T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 2434060	NM_001385012.1(NBEA):c.4024C>T (p.Arg1342Trp)	NBEA (R1342W)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 2434059	NM_001385012.1(NBEA):c.3607A>G (p.Ile1203Val)	NBEA (I1203V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2434058	NM_001385012.1(NBEA):c.6248G>A (p.Arg2083His)	NBEA (R2080H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2434057	NM_001385012.1(NBEA):c.4802G>A (p.Arg1601Lys)	NBEA (R1598K +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 2434056	NM_001385012.1(NBEA):c.6841A>G (p.Lys2281Glu)	NBEA (K2278E +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 2434055	NM_001385012.1(NBEA):c.4631A>G (p.Asn1544Ser)	NBEA (N1541S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2434054	NM_001385012.1(NBEA):c.3341G>C (p.Ser1114Thr)	NBEA (S1114T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 2434053	NM_001385012.1(NBEA):c.7252G>A (p.Ala2418Thr)	NBEA (A211T +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 2434052	NM_001385012.1(NBEA):c.8365G>A (p.Asp2789Asn)	NBEA (D2768N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2434050	NM_001385012.1(NBEA):c.2618T>C (p.Ile873Thr)	NBEA (I873T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 2434049	NM_001385012.1(NBEA):c.95_96delinsAT (p.Ser32Asn)	NBEA (S32N)	Indel (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 2434048	NM_001385012.1(NBEA):c.2103T>A (p.Asp701Glu)	NBEA (D701E)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 2434047	NM_001385012.1(NBEA):c.7225C>G (p.His2409Asp)	NBEA (H202D +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 2434046	NM_001385012.1(NBEA):c.16C>T (p.Pro6Ser)	NBEA (P6S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 2434045	NM_001385012.1(NBEA):c.968G>A (p.Arg323His)	NBEA (R323H)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 2434044	NM_001385012.1(NBEA):c.3616A>G (p.Lys1206Glu)	NBEA (K1206E)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 2434043	NM_001385012.1(NBEA):c.8542C>T (p.Arg2848Cys)	NBEA (R2827C +3 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 2432061	NM_001385012.1(NBEA):c.7519C>T (p.Arg2507Ter)	NBEA (R2504* +2 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GLikely pathogenic
Select item 2432056	NM_001385012.1(NBEA):c.3733G>T (p.Glu1245Ter)	NBEA (E1245*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GLikely pathogenic
Select item 2431923	NM_001385012.1(NBEA):c.411G>A (p.Trp137Ter)	NBEA (W137*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GLikely pathogenic
Select item 2431383	NM_001385012.1(NBEA):c.6554A>G (p.Asp2185Gly)	NBEA (D2182G +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 2370824	NM_001385012.1(NBEA):c.3770C>T (p.Ala1257Val)	NBEA (A1257V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2262720	NM_001385012.1(NBEA):c.5008A>G (p.Ile1670Val)	NBEA (I1670V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1805836	NM_001385012.1(NBEA):c.3806del (p.Asp1269fs)	NBEA (D1269fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GPathogenic
Select item 1805371	NM_001385012.1(NBEA):c.8657C>T (p.Thr2886Ile)	NBEA (T2865I +3 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 1805346	NM_001385012.1(NBEA):c.358T>A (p.Cys120Ser)	NBEA (C120S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 1805330	NM_001385012.1(NBEA):c.7568A>T (p.Tyr2523Phe)	NBEA (Y2520F +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 1805208	NM_001385012.1(NBEA):c.4367T>C (p.Ile1456Thr)	NBEA (I1453T +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 1802143	NM_001385012.1(NBEA):c.1092T>A (p.Asp364Glu)	NBEA (D364E)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 1801871	NM_001385012.1(NBEA):c.1808C>T (p.Ala603Val)	NBEA (A603V)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy +1 more	GUncertain significance
Select item 1709633	NM_001385012.1(NBEA):c.2746G>T (p.Val916Phe)	NBEA (V916F)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 1705514	NM_001385012.1(NBEA):c.8467G>A (p.Gly2823Ser)	NBEA (G2802S +3 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 1702981	NM_001385012.1(NBEA):c.3362del (p.Asn1121fs)	NBEA (N1121fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GLikely pathogenic
Select item 1699484	NM_001385012.1(NBEA):c.6304+5G>T	NBEA	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 1699255	NM_001385012.1(NBEA):c.7502T>C (p.Ile2501Thr)	NBEA (I2498T +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 1696535	NM_001385012.1(NBEA):c.7494C>G (p.Ile2498Met)	NBEA (I2495M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1696439	NM_001385012.1(NBEA):c.1615G>T (p.Val539Leu)	NBEA (V539L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 1687393	NM_001385012.1(NBEA):c.8358C>A (p.Asn2786Lys)	NBEA (N2765K +3 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 1685966	NM_001385012.1(NBEA):c.5648+1G>A	NBEA	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GPathogenic
Select item 1683679	NM_001385012.1(NBEA):c.5257G>A (p.Ala1753Thr)	NBEA (A1750T +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 1683678	NM_001385012.1(NBEA):c.1990C>A (p.Pro664Thr)	NBEA (P664T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 1342572	NM_001385012.1(NBEA):c.2743A>C (p.Met915Leu)	NBEA (M915L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 1341947	NM_001385012.1(NBEA):c.3362dup (p.Asn1121fs)	NBEA (N1121fs)	Duplication (frameshift variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GLikely pathogenic
Select item 1299843	NM_001385012.1(NBEA):c.8413G>T (p.Val2805Phe)	NBEA (V2784F +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1297017	NM_001385012.1(NBEA):c.5285C>T (p.Pro1762Leu)	NBEA (P1759L +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 1184364	NM_001385012.1(NBEA):c.4796A>G (p.Asn1599Ser)	NBEA (N1596S +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy +1 more	GUncertain significance
Select item 995847	NM_001385012.1(NBEA):c.8464G>A (p.Glu2822Lys)	NBEA (E2801K +3 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GPathogenic
Select item 995846	NM_001385012.1(NBEA):c.6313G>T (p.Glu2105Ter)	NBEA (E2105* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GPathogenic
Select item 995845	NM_001385012.1(NBEA):c.3994C>T (p.Pro1332Ser)	NBEA (P1332S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GPathogenic
Select item 995844	NM_001385012.1(NBEA):c.6829C>T (p.Arg2277Ter)	NBEA (R2277* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 995843	NM_001385012.1(NBEA):c.1006C>T (p.Arg336Ter)	NBEA (R336*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GPathogenic
Select item 791326	NM_001385012.1(NBEA):c.5081G>A (p.Ser1694Asn)	NBEA (S1694N +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy +1 more	GBenign/Likely benign
Select item 791054	NM_001385012.1(NBEA):c.5985G>A (p.Glu1995=)	NBEA	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy +1 more	GBenign/Likely benign
Select item 771753	NM_001385012.1(NBEA):c.282G>A (p.Thr94=)	NBEA	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 636250	NM_001385012.1(NBEA):c.5899G>A (p.Gly1967Arg)	NBEA (G1967R +1 more)	Single nucleotide variant (missense variant)	NBEA-related developmental delay and generalized epilepsy	GLikely pathogenic

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Items: 90