"Ambry Genetics"[submitter] AND "NBEA"[gene] - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2523121	NM_001385012.1(NBEA):c.118A>G (p.Ser40Gly)	NBEA (S40G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 2308991	NM_001385012.1(NBEA):c.526+3A>G	NBEA	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely pathogenic
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 2268293	NM_001385012.1(NBEA):c.611G>A (p.Gly204Glu)	NBEA (G204E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2522951	NM_001385012.1(NBEA):c.701A>G (p.Asn234Ser)	NBEA (N234S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2518477	NM_001385012.1(NBEA):c.742A>G (p.Ile248Val)	NBEA (I248V)	Single nucleotide variant (missense variant)	NBEA-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2552208	NM_001385012.1(NBEA):c.1451T>C (p.Ile484Thr)	NBEA (I484T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290999	NM_001385012.1(NBEA):c.1573G>T (p.Ala525Ser)	NBEA (A525S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302067	NM_001385012.1(NBEA):c.1685C>T (p.Ser562Leu)	NBEA (S562L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312933	NM_001385012.1(NBEA):c.1939T>A (p.Leu647Ile)	NBEA (L647I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1694700	NM_001385012.1(NBEA):c.2209A>C (p.Met737Leu)	NBEA (M737L)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2228859	NM_001385012.1(NBEA):c.2401C>T (p.His801Tyr)	NBEA (H801Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547377	NM_001385012.1(NBEA):c.2573G>C (p.Ser858Thr)	NBEA (S858T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620373	NM_001385012.1(NBEA):c.2702A>G (p.Tyr901Cys)	NBEA (Y901C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297634	NM_001385012.1(NBEA):c.2957G>A (p.Gly986Asp)	NBEA (G986D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298127	NM_001385012.1(NBEA):c.2975C>G (p.Thr992Arg)	NBEA (T992R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404491	NM_001385012.1(NBEA):c.3088T>C (p.Ser1030Pro)	NBEA (S1030P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2496036	NM_001385012.1(NBEA):c.3157C>G (p.His1053Asp)	NBEA (H1053D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400195	NM_001385012.1(NBEA):c.3221T>C (p.Met1074Thr)	NBEA (M1074T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390382	NM_001385012.1(NBEA):c.3275T>C (p.Val1092Ala)	NBEA (V1092A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325335	NM_001385012.1(NBEA):c.3277G>C (p.Glu1093Gln)	NBEA (E1093Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210453	NM_001385012.1(NBEA):c.3279A>T (p.Glu1093Asp)	NBEA (E1093D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985930	NM_001385012.1(NBEA):c.3391A>G (p.Thr1131Ala)	NBEA (T1131A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2411626	NM_001385012.1(NBEA):c.3548A>G (p.Asp1183Gly)	NBEA (D1183G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2527023	NM_001385012.1(NBEA):c.3568A>G (p.Met1190Val)	NBEA (M1190V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494981	NM_001385012.1(NBEA):c.3580G>A (p.Val1194Ile)	NBEA (V1194I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2370824	NM_001385012.1(NBEA):c.3770C>T (p.Ala1257Val)	NBEA (A1257V)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy +2 more	GConflicting classifications of pathogenicity
Select item 2350437	NM_001385012.1(NBEA):c.3824A>G (p.Lys1275Arg)	NBEA (K1275R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2375973	NM_001385012.1(NBEA):c.3831C>G (p.Ile1277Met)	NBEA (I1277M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1675524	NM_001385012.1(NBEA):c.3875G>A (p.Arg1292Gln)	NBEA (R1292Q)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 985801	NM_001385012.1(NBEA):c.3895C>T (p.Arg1299Ter)	NBEA (R1299*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2329684	NM_001385012.1(NBEA):c.3923G>A (p.Arg1308Gln)	NBEA (R1308Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266570	NM_001385012.1(NBEA):c.3934A>G (p.Met1312Val)	NBEA (M1312V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229489	NM_001385012.1(NBEA):c.4183A>G (p.Ile1395Val)	NBEA (I1395V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532559	NM_001385012.1(NBEA):c.4329T>G (p.Asp1443Glu)	NBEA (D1443E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363086	NM_001385012.1(NBEA):c.4333C>A (p.Leu1445Ile)	NBEA (L1442I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2411247	NM_001385012.1(NBEA):c.4448G>C (p.Cys1483Ser)	NBEA (C1480S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283730	NM_001385012.1(NBEA):c.4472G>C (p.Arg1491Thr)	NBEA (R1488T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985884	NM_001385012.1(NBEA):c.4477_4478del (p.Arg1493fs)	NBEA (R1490fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2553309	NM_001385012.1(NBEA):c.4601C>T (p.Pro1534Leu)	NBEA (P1531L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410692	NM_001385012.1(NBEA):c.4842A>G (p.Ile1614Met)	NBEA (I1611M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2336225	NM_001385012.1(NBEA):c.4855C>T (p.His1619Tyr)	NBEA (H1619Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262720	NM_001385012.1(NBEA):c.5008A>G (p.Ile1670Val)	NBEA (I1670V +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy +1 more	GUncertain significance
Select item 2289268	NM_001385012.1(NBEA):c.5093A>G (p.Asp1698Gly)	NBEA (D1695G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1341832	NM_001385012.1(NBEA):c.5279G>A (p.Cys1760Tyr)	NBEA (C1757Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2395005	NM_001385012.1(NBEA):c.5308C>G (p.Pro1770Ala)	NBEA (P1770A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2259472	NM_001385012.1(NBEA):c.5782G>A (p.Val1928Ile)	NBEA (V1928I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208434	NM_001385012.1(NBEA):c.6187C>T (p.His2063Tyr)	NBEA (H2063Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2434058	NM_001385012.1(NBEA):c.6248G>A (p.Arg2083His)	NBEA (R2080H +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy +2 more	GConflicting classifications of pathogenicity
Select item 2324049	NM_001385012.1(NBEA):c.6496G>A (p.Val2166Met)	NBEA (V2163M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 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 2281234	NM_005584.5(MAB21L1):c.46T>C (p.Tyr16His)	NBEA, MAB21L1 (Y16H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2469348	NM_001385012.1(NBEA):c.6715T>C (p.Phe2239Leu)	NBEA (F2236L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342039	NM_001385012.1(NBEA):c.6734C>A (p.Ala2245Glu)	NBEA (A2245E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 983330	NM_001385012.1(NBEA):c.6743A>G (p.Lys2248Arg)	NBEA (K2245R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2287499	NM_001385012.1(NBEA):c.6871A>G (p.Arg2291Gly)	NBEA (R2288G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542091	NM_001385012.1(NBEA):c.6916A>G (p.Ile2306Val)	NBEA (I2306V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603810	NM_001385012.1(NBEA):c.7265G>A (p.Arg2422Lys)	NBEA (R2419K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507616	NM_001385012.1(NBEA):c.7394T>C (p.Val2465Ala)	NBEA (V2465A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2285951	NM_001385012.1(NBEA):c.7803A>C (p.Lys2601Asn)	NBEA (K2580N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463436	NM_001385012.1(NBEA):c.7899C>G (p.Ile2633Met)	NBEA (I2612M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247291	NM_001385012.1(NBEA):c.8113G>T (p.Val2705Leu)	NBEA (V2702L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268916	NM_001385012.1(NBEA):c.8324G>C (p.Ser2775Thr)	NBEA (S2775T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2434052	NM_001385012.1(NBEA):c.8365G>A (p.Asp2789Asn)	NBEA (D2768N +3 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy +1 more	GUncertain significance
Select item 2569224	NM_001385012.1(NBEA):c.8543G>A (p.Arg2848His)	NBEA (R2845H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign

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Items: 72