C5436914[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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

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Items: 32