NBEA[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	LOC130009419, LOC130009420 +567 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC132090185, LOC132090186 +621 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 148858	GRCh38/hg38 13q12.3-13.3(chr13:29073320-36556014)x1	ALOX5AP, B3GLCT +203 more	Copy number loss	See cases	GPathogenic
Select item 154802	GRCh38/hg38 13q12.3-13.3(chr13:29321454-36995348)x3	ALG5, ALOX5AP +211 more	Copy number gain	See cases	GPathogenic
Select item 150360	GRCh38/hg38 13q12.3-13.3(chr13:30313809-39267681)x1	ALG5, ALOX5AP +214 more	Copy number loss	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	LOC130009567, LOC130009568 +1005 more	Copy number gain	See cases	GPathogenic
Select item 57638	GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1	LOC130009620, LOC130009621 +781 more	Copy number loss	See cases	GPathogenic
Select item 149761	GRCh38/hg38 13q12.3-14.2(chr13:31018160-48491204)x1	AKAP11, ALG5 +485 more	Copy number loss	See cases	GPathogenic
Select item 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 33174	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 146536	GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3	LOC130009600, LOC130009601 +735 more	Copy number gain	See cases	GPathogenic
Select item 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	LOC130009611, LOC130009612 +938 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +1557 more	Copy number gain	See cases	GPathogenic
Select item 58253	GRCh38/hg38 13q13.2-13.3(chr13:33754469-36942137)x3	CCDC169, CCDC169-SOHLH2 +53 more	Copy number gain	See cases	GUncertain significance
Select item 153116	GRCh38/hg38 13q13.2-13.3(chr13:34151122-35159055)x1	LINC00457, LINC02343 +12 more	Copy number loss	See cases	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 3339191	NM_001385012.1(NBEA):c.-8G>T	NBEA	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
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 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 3178218	NM_001385012.1(NBEA):c.17C>A (p.Pro6Gln)	NBEA (P6Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1691037	NM_001385012.1(NBEA):c.20G>A (p.Gly7Asp)	NBEA (G7D)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2643737	NM_001385012.1(NBEA):c.25G>T (p.Gly9Cys)	NBEA (G9C)	Single nucleotide variant (missense variant)	not provided	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 3031215	NM_001385012.1(NBEA):c.41C>T (p.Pro14Leu)	NBEA (P14L)	Single nucleotide variant (missense variant)	NBEA-related disorder	GUncertain significance
Select item 3178305	NM_001385012.1(NBEA):c.47C>T (p.Pro16Leu)	NBEA (P16L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 790672	NM_001385012.1(NBEA):c.48C>G (p.Pro16=)	NBEA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3363598	NM_001385012.1(NBEA):c.61G>A (p.Ala21Thr)	NBEA (A21T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1701220	NM_001385012.1(NBEA):c.73G>A (p.Ala25Thr)	NBEA (A25T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2643738	NM_001385012.1(NBEA):c.99_122del (p.Gly34_Gly41del)	NBEA	Deletion (inframe_deletion)	not provided	GLikely benign
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 2643739	NM_001385012.1(NBEA):c.102T>G (p.Gly34=)	NBEA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2663023	NM_001385012.1(NBEA):c.115G>T (p.Gly39Cys)	NBEA (G39C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1691636	NM_001385012.1(NBEA):c.116G>A (p.Gly39Asp)	NBEA (G39D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3061173	NM_001385012.1(NBEA):c.118_119delinsCC (p.Ser40Pro)	NBEA (S40P)	Indel (missense variant)	NBEA-related disorder	GUncertain significance
Select item 2523121	NM_001385012.1(NBEA):c.118A>G (p.Ser40Gly)	NBEA (S40G)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2496466	NM_001385012.1(NBEA):c.118A>C (p.Ser40Arg)	NBEA (S40R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2496467	NM_001385012.1(NBEA):c.119G>C (p.Ser40Thr)	NBEA (S40T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2630674	NM_001385012.1(NBEA):c.122G>C (p.Gly41Ala)	NBEA (G41A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1318524	NM_001385012.1(NBEA):c.122G>A (p.Gly41Glu)	NBEA (G41E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2672539	NM_001385012.1(NBEA):c.136A>C (p.Arg46=)	NBEA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3030118	NM_001385012.1(NBEA):c.141G>C (p.Gly47=)	NBEA	Single nucleotide variant (synonymous variant)	NBEA-related disorder	GLikely benign
Select item 2643740	NM_001385012.1(NBEA):c.142G>A (p.Ala48Thr)	NBEA (A48T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1722972	NM_001385012.1(NBEA):c.154G>T (p.Gly52Cys)	NBEA (G52C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 726664	NM_001385012.1(NBEA):c.168C>T (p.Leu56=)	NBEA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2428846	NM_001385012.1(NBEA):c.172G>A (p.Ala58Thr)	NBEA (A58T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3029096	NM_001385012.1(NBEA):c.195G>C (p.Val65=)	NBEA	Single nucleotide variant (synonymous variant)	NBEA-related disorder	GLikely benign
Select item 3239273	NM_001385012.1(NBEA):c.240C>T (p.Leu80=)	NBEA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3364083	NM_001385012.1(NBEA):c.260G>T (p.Ser87Ile)	NBEA (S87I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3336510	NM_001385012.1(NBEA):c.271A>G (p.Ile91Val)	NBEA (I91V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042500	NM_001385012.1(NBEA):c.276G>T (p.Val92=)	NBEA	Single nucleotide variant (synonymous variant)	NBEA-related disorder	GLikely benign
Select item 771753	NM_001385012.1(NBEA):c.282G>A (p.Thr94=)	NBEA	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy +1 more	GBenign/Likely benign
Select item 545159	NC_000013.11:g.(?_35011654)_(35113567_?)del	NBEA	Deletion	Autism	GLikely pathogenic
Select item 3026896	NM_001385012.1(NBEA):c.308A>T (p.Glu103Val)	NBEA (E103V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315714	NM_001385012.1(NBEA):c.340G>T (p.Asp114Tyr)	NBEA (D114Y)	Single nucleotide variant (missense variant)	not provided	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 3343694	NM_001385012.1(NBEA):c.391A>G (p.Thr131Ala)	NBEA (T131A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 724545	NM_001385012.1(NBEA):c.423A>G (p.Thr141=)	NBEA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1678665	NM_001385012.1(NBEA):c.433C>T (p.Arg145Ter)	NBEA (R145*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1315878	NM_001385012.1(NBEA):c.437A>G (p.Lys146Arg)	NBEA (K146R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3178292	NM_001385012.1(NBEA):c.446G>A (p.Arg149Gln)	NBEA (R149Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3341425	NM_001385012.1(NBEA):c.467A>C (p.Glu156Ala)	NBEA (E156A)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 2308991	NM_001385012.1(NBEA):c.526+3A>G	NBEA	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely pathogenic
Select item 989301	NM_001385012.1(NBEA):c.539A>G (p.Asp180Gly)	NBEA (D180G)	Single nucleotide variant (missense variant)	NBEA-related intellectual disability	GUncertain significance
Select item 3251037	NM_001385012.1(NBEA):c.542T>C (p.Met181Thr)	NBEA (M181T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580479	NM_001385012.1(NBEA):c.556G>A (p.Ala186Thr)	NBEA (A186T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2258369	NM_001385012.1(NBEA):c.569T>A (p.Ile190Asn)	NBEA (I190N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479521	NM_001385012.1(NBEA):c.598A>T (p.Ser200Cys)	NBEA (S200C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2805896	NM_001385012.1(NBEA):c.603G>A (p.Met201Ile)	NBEA (M201I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2268293	NM_001385012.1(NBEA):c.611G>A (p.Gly204Glu)	NBEA (G204E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3237459	NM_001385012.1(NBEA):c.616A>G (p.Ser206Gly)	NBEA (S206G)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GUncertain significance
Select item 2229325	NM_001385012.1(NBEA):c.628-6C>G	NBEA	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2578699	NM_001385012.1(NBEA):c.639del (p.Ala213_Val214insTer)	NBEA	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2634099	NM_001385012.1(NBEA):c.648A>T (p.Leu216Phe)	NBEA (L216F)	Single nucleotide variant (missense variant)	NBEA-related disorder	GUncertain significance
Select item 3025945	NM_001385012.1(NBEA):c.681C>T (p.His227=)	NBEA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2522951	NM_001385012.1(NBEA):c.701A>G (p.Asn234Ser)	NBEA (N234S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3026282	NM_001385012.1(NBEA):c.723+8T>C	NBEA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2570857	NM_001385012.1(NBEA):c.727A>G (p.Ile243Val)	NBEA (I243V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2518477	NM_001385012.1(NBEA):c.742A>G (p.Ile248Val)	NBEA (I248V)	Single nucleotide variant (missense variant)	NBEA-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3364763	NM_001385012.1(NBEA):c.791G>A (p.Arg264His)	NBEA (R264H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369632	NM_001385012.1(NBEA):c.833C>T (p.Pro278Leu)	NBEA (P278L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1696339	NM_001385012.1(NBEA):c.872A>G (p.Tyr291Cys)	NBEA (Y291C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1316971	NM_001385012.1(NBEA):c.880C>T (p.His294Tyr)	NBEA (H294Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1328525	NM_001385012.1(NBEA):c.955G>T (p.Asp319Tyr)	NBEA (D319Y)	Single nucleotide variant (missense variant)	NBEA-related complex neurodevelopmental disorder +1 more	GLikely pathogenic
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 1703353	NM_001385012.1(NBEA):c.997A>G (p.Ile333Val)	NBEA (I333V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1343155	NM_001385012.1(NBEA):c.1035T>G (p.Tyr345Ter)	NBEA (Y345*)	Single nucleotide variant (nonsense)	Intellectual disability	GPathogenic

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