ClinVar for Gene (Select 84823) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366973	NM_032737.4(LMNB2):c.578_579del (p.Val193fs)	LMNB2 (V193fs)	Deletion (frameshift variant)	Microcephaly 27, primary, autosomal dominant	GPathogenic
Select item 3339887	NM_032737.4(LMNB2):c.855+11C>A	LMNB2, MIR7108	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3338998	NM_032737.4(LMNB2):c.840G>C (p.Gln280His)	LMNB2 (Q280H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290964	NM_032737.4(LMNB2):c.1829C>T (p.Pro610Leu)	LMNB2 (P610L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251401	NM_032737.4(LMNB2):c.1737G>T (p.Lys579Asn)	LMNB2 (K579N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248515	NC_000019.9:g.(?_2430909)_(4171966_?)del	APBA3, ATCAY +42 more	Deletion	RASopathy	GUncertain significance
Select item 3248492	NC_000019.9:g.(?_2430909)_(3121177_?)dup	DIRAS1, GADD45B +13 more	Duplication	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 3119319	NM_032737.4(LMNB2):c.934A>G (p.Met312Val)	LMNB2 (M312V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119318	NM_032737.4(LMNB2):c.856C>T (p.Leu286=)	LMNB2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3119317	NM_032737.4(LMNB2):c.691C>G (p.Arg231Gly)	LMNB2 (R231G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119316	NM_032737.4(LMNB2):c.1581G>T (p.Gln527His)	LMNB2 (Q527H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3066095	NM_032737.4(LMNB2):c.889_891del (p.Asp297del)	LMNB2 (D297del)	Deletion (inframe deletion)	Microcephaly 27, primary, autosomal dominant	GUncertain significance
Select item 3064555	NM_032737.4(LMNB2):c.289G>A (p.Glu97Lys)	LMNB2 (E97K)	Single nucleotide variant (missense variant)	Lipodystrophy, partial, acquired, susceptibility to	GUncertain significance
Select item 3063796	NM_032737.4(LMNB2):c.151C>T (p.Arg51Cys)	LMNB2 (R51C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056931	NM_032737.4(LMNB2):c.1731G>A (p.Val577=)	LMNB2	Single nucleotide variant (synonymous variant)	LMNB2-related disorder	GLikely benign
Select item 3050568	NM_032737.4(LMNB2):c.*2C>A	LMNB2	Single nucleotide variant (3 prime UTR variant)	LMNB2-related disorder	GLikely benign
Select item 3043554	NM_032737.4(LMNB2):c.9_21del	LMNB2	Deletion (3 prime UTR variant)	LMNB2-related disorder	GLikely benign
Select item 3036379	NM_032737.4(LMNB2):c.1203-7C>G	LMNB2	Single nucleotide variant (intron variant)	LMNB2-related disorder	GLikely benign
Select item 2954381	NM_032737.4(LMNB2):c.836A>T (p.Glu279Val)	LMNB2 (E279V)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 2953920	NM_032737.4(LMNB2):c.660C>T (p.Asp220=)	LMNB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 2953380	NM_032737.4(LMNB2):c.1141A>C (p.Lys381Gln)	LMNB2 (K381Q)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 2953329	NM_032737.4(LMNB2):c.1369G>A (p.Gly457Ser)	LMNB2 (G457S)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 2952675	NM_032737.4(LMNB2):c.1603G>A (p.Gly535Ser)	LMNB2 (G535S)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 2950664	NM_032737.4(LMNB2):c.404C>T (p.Ala135Val)	LMNB2 (A135V)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 2949002	NM_032737.4(LMNB2):c.53C>T (p.Ala18Val)	LMNB2, LOC130063066 (A18V)	Single nucleotide variant (missense variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GUncertain significance
Select item 2948361	NM_032737.4(LMNB2):c.1835C>T (p.Thr612Ile)	LMNB2 (T612I)	Single nucleotide variant (missense variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GUncertain significance
Select item 2946924	NM_032737.4(LMNB2):c.1658G>T (p.Ser553Ile)	LMNB2 (S553I)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 2944823	NM_032737.4(LMNB2):c.1711-16G>T	LMNB2	Single nucleotide variant (intron variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GLikely benign
Select item 2943246	NM_032737.4(LMNB2):c.1564A>G (p.Ile522Val)	LMNB2 (I522V)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 2942019	NM_032737.4(LMNB2):c.73C>G (p.Leu25Val)	LMNB2 (L25V)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 2941581	NM_032737.4(LMNB2):c.1392G>A (p.Leu464=)	LMNB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 2939755	NM_032737.4(LMNB2):c.1326G>T (p.Glu442Asp)	LMNB2 (E442D)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 2938801	NM_032737.4(LMNB2):c.272G>A (p.Gly91Asp)	LMNB2 (G91D)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 2937888	NM_032737.4(LMNB2):c.1787C>G (p.Ala596Gly)	LMNB2 (A596G)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 2936550	NM_032737.4(LMNB2):c.1624C>T (p.Pro542Ser)	LMNB2 (P542S)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +2 more	GUncertain significance
Select item 2936448	NM_032737.4(LMNB2):c.1428C>T (p.Ile476=)	LMNB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 2936416	NM_032737.4(LMNB2):c.264+5G>T	LOC130063065, LMNB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 2936375	NM_032737.4(LMNB2):c.949C>T (p.Leu317Phe)	LMNB2 (L317F)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 2936277	NM_032737.4(LMNB2):c.1482+19G>A	LMNB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 2936041	NM_032737.4(LMNB2):c.1623C>A (p.Ser541Arg)	LMNB2 (S541R)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 2936040	NM_032737.4(LMNB2):c.1755G>C (p.Glu585Asp)	LMNB2 (E585D)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 2936011	NM_032737.4(LMNB2):c.1354C>T (p.Leu452=)	LMNB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 2935717	NM_032737.4(LMNB2):c.1229C>T (p.Ser410Leu)	LMNB2 (S410L)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 2935577	NM_032737.4(LMNB2):c.1711-18G>A	LMNB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 2935404	NM_032737.4(LMNB2):c.1356G>A (p.Leu452=)	LMNB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 2935150	NM_032737.4(LMNB2):c.1821+8C>T	LMNB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 2935064	NM_032737.4(LMNB2):c.1711-19C>T	LMNB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 2934347	NM_032737.4(LMNB2):c.1017G>A (p.Glu339=)	LMNB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 2932644	NM_032737.4(LMNB2):c.1821+16C>T	LMNB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 2932002	NM_032737.4(LMNB2):c.489G>A (p.Leu163=)	LMNB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 2931985	NM_032737.4(LMNB2):c.503G>A (p.Ser168Asn)	LMNB2 (S168N)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 2931471	NM_032737.4(LMNB2):c.138G>A (p.Glu46=)	LMNB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 2930445	NM_032737.4(LMNB2):c.568G>A (p.Gly190Ser)	LMNB2 (G190S)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 2930412	NM_032737.4(LMNB2):c.293C>T (p.Ser98Leu)	LMNB2 (S98L)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 2929635	NM_032737.4(LMNB2):c.609G>A (p.Leu203=)	LMNB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 2929269	NM_032737.4(LMNB2):c.982-15C>A	LMNB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 2928899	NM_032737.4(LMNB2):c.684+20T>C	LMNB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 2928854	NM_032737.4(LMNB2):c.395_396delinsTA (p.Asn132Ile)	LMNB2 (N132I)	Indel (missense variant)	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 2928719	NM_032737.4(LMNB2):c.1581G>A (p.Gln527=)	LMNB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 2928648	NM_032737.4(LMNB2):c.40A>G (p.Arg14Gly)	LMNB2, LOC130063066 (R14G)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 2928047	NM_032737.4(LMNB2):c.417G>A (p.Glu139=)	LMNB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 2927678	NM_032737.4(LMNB2):c.1589C>T (p.Thr530Met)	LMNB2 (T530M)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 2927545	NM_032737.4(LMNB2):c.420C>T (p.Gly140=)	LMNB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 2927157	NM_032737.4(LMNB2):c.685-18C>T	LMNB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 2926962	NM_032737.4(LMNB2):c.1214C>T (p.Ser405Phe)	LMNB2 (S405F)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 2926939	NM_032737.4(LMNB2):c.1821+15C>G	LMNB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 2926502	NM_032737.4(LMNB2):c.1554G>A (p.Thr518=)	LMNB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 2926242	NM_032737.4(LMNB2):c.1540G>A (p.Ala514Thr)	LMNB2 (A514T)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 2925479	NM_032737.4(LMNB2):c.719G>A (p.Arg240His)	LMNB2 (R240H)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 2925081	NM_032737.4(LMNB2):c.1116C>T (p.Ala372=)	LMNB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 2924782	NM_032737.4(LMNB2):c.1606G>A (p.Ala536Thr)	LMNB2 (A536T)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 2924653	NM_032737.4(LMNB2):c.1822-10C>G	LMNB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 2924211	NM_032737.4(LMNB2):c.1203-13G>A	LMNB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 2923007	NM_032737.4(LMNB2):c.631C>T (p.Arg211Cys)	LMNB2 (R211C)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 2922820	NM_032737.4(LMNB2):c.1429G>A (p.Glu477Lys)	LMNB2 (E477K)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 2921614	NM_032737.4(LMNB2):c.1743G>A (p.Ser581=)	LMNB2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 2672734	NM_032737.4(LMNB2):c.669G>T (p.Lys223Asn)	LMNB2 (K223N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2672733	NM_032737.4(LMNB2):c.1077G>A (p.Glu359=)	LMNB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648977	NM_032737.4(LMNB2):c.16C>G (p.Pro6Ala)	LMNB2, LOC130063066 (P6A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2648976	NM_032737.4(LMNB2):c.1859T>C (p.Met620Thr)	LMNB2 (M620T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2628719	NM_032737.4(LMNB2):c.1648G>C (p.Gly550Arg)	LMNB2 (G550R)	Single nucleotide variant (missense variant)	LMNB2-related disorder	GUncertain significance
Select item 2627853	NM_032737.4(LMNB2):c.236C>T (p.Ser79Leu)	LMNB2, LOC130063065 (S79L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 2627852	NM_032737.4(LMNB2):c.119G>T (p.Arg40Leu)	LMNB2 (R40L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 2613370	NM_032737.4(LMNB2):c.976A>G (p.Lys326Glu)	LMNB2 (K326E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2582532	NM_032737.4(LMNB2):c.859G>A (p.Asp287Asn)	LMNB2 (D287N)	Single nucleotide variant (missense variant)	Microcephaly 27, primary, autosomal dominant	GUncertain significance
Select item 2578547	NM_032737.4(LMNB2):c.1163T>G (p.Ile388Ser)	LMNB2 (I388S)	Single nucleotide variant (missense variant)	Microcephaly 27, primary, autosomal dominant +1 more	GUncertain significance
Select item 2550996	NM_032737.4(LMNB2):c.902G>T (p.Ser301Ile)	LMNB2 (S301I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510742	NM_032737.4(LMNB2):c.1855G>A (p.Val619Met)	LMNB2 (V619M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445494	NC_000019.9:g.(?_1206913)_(3771740_?)dup	ABHD17A, ADAMTSL5 +80 more	Duplication	not provided	GUncertain significance
Select item 2433488	NM_032737.4(LMNB2):c.1168G>A (p.Ala390Thr)	LMNB2 (A390T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433487	NM_032737.4(LMNB2):c.18_39dup (p.Arg14fs)	LMNB2, LOC130063066 (R14fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2427064	NC_000019.9:g.(?_1456055)_(2456931_?)dup	C19orf25, CSNK1G2 +35 more	Duplication	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	TLE5, TLE6 +151 more	Duplication	not provided	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 2415362	NM_032737.4(LMNB2):c.14G>A (p.Ser5Asn)	LMNB2, LOC130063066 (S5N)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 2415323	NM_032737.4(LMNB2):c.801C>T (p.His267=)	LMNB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 2341129	NM_032737.4(LMNB2):c.532G>A (p.Ala178Thr)	LMNB2 (A178T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336134	NM_032737.4(LMNB2):c.1302T>A (p.Ser434Arg)	LMNB2 (S434R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327587	NM_032737.4(LMNB2):c.218G>C (p.Arg73Pro)	LMNB2, LOC130063065 (R73P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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