Related gene-specific medical variations for Gene (Select 26960) - ClinVar

Links from Gene

Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3121821	NM_005584.5(MAB21L1):c.606G>T (p.Glu202Asp)	MAB21L1, NBEA (E202D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3121820	NM_005584.5(MAB21L1):c.17C>T (p.Ala6Val)	MAB21L1, NBEA (A6V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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 3063274	GRCh37/hg19 13q13.3(chr13:35778508-36035542)x1	NBEA	Copy number loss	not specified	GPathogenic
Select item 3045338	NM_005584.5(MAB21L1):c.772A>C (p.Arg258=)	MAB21L1, NBEA	Single nucleotide variant (synonymous variant +1 more)	MAB21L1-related condition	GLikely benign
Select item 3045100	NM_005584.5(MAB21L1):c.820A>G (p.Met274Val)	MAB21L1, NBEA (M274V)	Single nucleotide variant (missense variant +1 more)	MAB21L1-related condition	GLikely benign
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 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 2643760	NM_005584.5(MAB21L1):c.728T>C (p.Met243Thr)	MAB21L1, NBEA (M243T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2608889	NM_005584.5(MAB21L1):c.681C>A (p.Ser227Arg)	MAB21L1, NBEA (S227R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2595239	NM_005584.5(MAB21L1):c.217G>A (p.Glu73Lys)	MAB21L1, NBEA (E73K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 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 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)	Inborn genetic diseases +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 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 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 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 2429964	NM_001385012.1(NBEA):c.1711C>G (p.Leu571Val)	NBEA (L571V)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2429963	NM_001385012.1(NBEA):c.5206dup (p.Ser1736fs)	NBEA (S1733fs +1 more)	Duplication (frameshift variant)	Autism spectrum disorder	GPathogenic
Select item 2293743	NM_005584.5(MAB21L1):c.364T>A (p.Tyr122Asn)	MAB21L1, NBEA (Y122N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2281234	NM_005584.5(MAB21L1):c.46T>C (p.Tyr16His)	MAB21L1, NBEA (Y16H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2175962	NM_005584.5(MAB21L1):c.152G>A (p.Arg51Gln)	MAB21L1, NBEA (R51Q)	Single nucleotide variant (intron variant +1 more)	not provided	GPathogenic
Select item 1879253	NM_005584.5(MAB21L1):c.152G>T (p.Arg51Leu)	MAB21L1, NBEA (R51L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1696722	NM_001385012.1(NBEA):c.6503A>T (p.Lys2168Met)	NBEA (K2165M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1696720	NM_001385012.1(NBEA):c.2002+2530C>T	NBEA	Single nucleotide variant (intron variant)	not provided	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 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 1340370	GRCh37/hg19 13q13.3(chr13:35973337-35996729)x1	NBEA	Copy number loss	not provided	GUncertain significance
Select item 1340087	GRCh37/hg19 13q13.3(chr13:35863322-35911764)x1	NBEA	Copy number loss	not provided	GLikely pathogenic
Select item 1319749	NM_001385012.1(NBEA):c.1727C>A (p.Ser576Tyr)	NBEA (S576Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1213738	NM_001385012.1(NBEA):c.5172A>C (p.Glu1724Asp)	NBEA (E1721D +1 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1213725	NM_001385012.1(NBEA):c.1651T>G (p.Phe551Val)	NBEA (F551V)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1213701	NM_001385012.1(NBEA):c.4739G>A (p.Arg1580His)	NBEA (R1577H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1213695	NM_001385012.1(NBEA):c.1978A>G (p.Ser660Gly)	NBEA (S660G)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1184381	NM_001385012.1(NBEA):c.3484C>T (p.Leu1162Phe)	NBEA (L1162F)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1184310	NM_001385012.1(NBEA):c.8861T>C (p.Ile2954Thr)	NBEA (I2933T +3 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1098580	NM_001385012.1(NBEA):c.6304+1460T>G	NBEA	Single nucleotide variant (intron variant)	See cases	GUncertain significance
Select item 1050630	NM_005584.5(MAB21L1):c.121G>A (p.Val41Ile)	MAB21L1, NBEA (V41I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 996806	NM_001385012.1(NBEA):c.8156G>A (p.Trp2719Ter)	NBEA (W2698* +3 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 992757	NM_001385012.1(NBEA):c.8760T>G (p.Ile2920Met)	NBEA (I2899M +3 more)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 988833	NM_001385012.1(NBEA):c.-161C>T	LOC130009564, NBEA	Single nucleotide variant (5 prime UTR variant)	Abnormal bleeding +1 more	GUncertain significance
Select item 987232	NM_001385012.1(NBEA):c.7771del (p.Cys2591fs)	NBEA (C2570fs +3 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 987202	NM_001385012.1(NBEA):c.3337_3338del (p.Gly1113fs)	NBEA (G1113fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 986825	NM_001385012.1(NBEA):c.5367-2A>T	NBEA	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 983366	NM_001385012.1(NBEA):c.4406G>A (p.Arg1469Gln)	NBEA (R1466Q +1 more)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GUncertain significance
Select item 978134	NM_001385012.1(NBEA):c.3894C>A (p.Asp1298Glu)	NBEA (D1298E)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely pathogenic
Select item 973380	NM_001385012.1(NBEA):c.8659C>T (p.Arg2887Trp)	NBEA (R2866W +3 more)	Single nucleotide variant (missense variant)	typical paroxysmal kinesigenic dyskinesia	GPathogenic
Select item 930741	NM_001385012.1(NBEA):c.8167T>G (p.Phe2723Val)	NBEA (F2702V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 930696	NM_001385012.1(NBEA):c.1946A>G (p.Tyr649Cys)	NBEA (Y649C)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 687666	GRCh37/hg19 13q13.3(chr13:36123288-36218393)x3	NBEA	Copy number gain	not provided	GUncertain significance
Select item 666336	NM_005584.5(MAB21L1):c.737dup (p.Cys246fs)	MAB21L1, NBEA (C246fs)	Duplication (frameshift variant +1 more)	Hypoplasia of scrotum	GLikely pathogenic
Select item 634930	NM_005584.5(MAB21L1):c.698A>C (p.Gln233Pro)	MAB21L1, NBEA (Q233P)	Single nucleotide variant (missense variant +1 more)	Cerebellar, ocular, craniofacial, and genital syndrome	GPathogenic
Select item 634929	NM_005584.5(MAB21L1):c.841del (p.Glu281fs)	MAB21L1, NBEA (E281fs)	Deletion (frameshift variant +1 more)	Cerebellar, ocular, craniofacial, and genital syndrome	GPathogenic
Select item 634928	NM_005584.5(MAB21L1):c.859del (p.Arg287fs)	MAB21L1, NBEA (R287fs)	Deletion (frameshift variant +1 more)	Cerebellar, ocular, craniofacial, and genital syndrome	GPathogenic
Select item 634927	NM_005584.5(MAB21L1):c.840C>G (p.Tyr280Ter)	MAB21L1, NBEA (Y280*)	Single nucleotide variant (nonsense +1 more)	Cerebellar, ocular, craniofacial, and genital syndrome	GPathogenic
Select item 634926	NM_005584.5(MAB21L1):c.735dup (p.Cys246fs)	MAB21L1, NBEA (C246fs)	Duplication (frameshift variant +1 more)	Cerebellar, ocular, craniofacial, and genital syndrome	GPathogenic
Select item 545159	NC_000013.11:g.(?_35011654)_(35113567_?)del	NBEA	Deletion	Autism	GLikely pathogenic

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Items: 81