ClinVar for MedGen (Select 854363) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GLikely benign
Select item 2939755	NM_032737.4(LMNB2):c.1326G>T (p.Glu442Asp)	LMNB2 (E442D)	Single nucleotide variant (missense variant)	Lipodystrophy, partial, acquired, susceptibility to +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)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GUncertain significance
Select item 2936448	NM_032737.4(LMNB2):c.1428C>T (p.Ile476=)	LMNB2	Single nucleotide variant (synonymous variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GLikely benign
Select item 2936416	NM_032737.4(LMNB2):c.264+5G>T	LMNB2, LOC130063065	Single nucleotide variant (intron variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GUncertain significance
Select item 2936375	NM_032737.4(LMNB2):c.949C>T (p.Leu317Phe)	LMNB2 (L317F)	Single nucleotide variant (missense variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GUncertain significance
Select item 2936277	NM_032737.4(LMNB2):c.1482+19G>A	LMNB2	Single nucleotide variant (intron variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GLikely benign
Select item 2936041	NM_032737.4(LMNB2):c.1623C>A (p.Ser541Arg)	LMNB2 (S541R)	Single nucleotide variant (missense variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GUncertain significance
Select item 2936040	NM_032737.4(LMNB2):c.1755G>C (p.Glu585Asp)	LMNB2 (E585D)	Single nucleotide variant (missense variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GUncertain significance
Select item 2936011	NM_032737.4(LMNB2):c.1354C>T (p.Leu452=)	LMNB2	Single nucleotide variant (synonymous variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GLikely benign
Select item 2935717	NM_032737.4(LMNB2):c.1229C>T (p.Ser410Leu)	LMNB2 (S410L)	Single nucleotide variant (missense variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GUncertain significance
Select item 2935577	NM_032737.4(LMNB2):c.1711-18G>A	LMNB2	Single nucleotide variant (intron variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GLikely benign
Select item 2935404	NM_032737.4(LMNB2):c.1356G>A (p.Leu452=)	LMNB2	Single nucleotide variant (synonymous variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GLikely benign
Select item 2935150	NM_032737.4(LMNB2):c.1821+8C>T	LMNB2	Single nucleotide variant (intron variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GLikely benign
Select item 2935064	NM_032737.4(LMNB2):c.1711-19C>T	LMNB2	Single nucleotide variant (intron variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GLikely benign
Select item 2934347	NM_032737.4(LMNB2):c.1017G>A (p.Glu339=)	LMNB2	Single nucleotide variant (synonymous variant)	Lipodystrophy, partial, acquired, susceptibility to +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)	LMNB2-related condition +2 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)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GUncertain significance
Select item 2925081	NM_032737.4(LMNB2):c.1116C>T (p.Ala372=)	LMNB2	Single nucleotide variant (synonymous variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GLikely benign
Select item 2924782	NM_032737.4(LMNB2):c.1606G>A (p.Ala536Thr)	LMNB2 (A536T)	Single nucleotide variant (missense variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GUncertain significance
Select item 2924653	NM_032737.4(LMNB2):c.1822-10C>G	LMNB2	Single nucleotide variant (intron variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GLikely benign
Select item 2924211	NM_032737.4(LMNB2):c.1203-13G>A	LMNB2	Single nucleotide variant (intron variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GLikely benign
Select item 2923007	NM_032737.4(LMNB2):c.631C>T (p.Arg211Cys)	LMNB2 (R211C)	Single nucleotide variant (missense variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GUncertain significance
Select item 2922820	NM_032737.4(LMNB2):c.1429G>A (p.Glu477Lys)	LMNB2 (E477K)	Single nucleotide variant (missense variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GUncertain significance
Select item 2921614	NM_032737.4(LMNB2):c.1743G>A (p.Ser581=)	LMNB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 9 +2 more	GLikely benign
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 2427064	NC_000019.9:g.(?_1456055)_(2456931_?)dup	CSNK1G2, PEAK3 +35 more	Duplication	Lipodystrophy, partial, acquired, susceptibility to +1 more	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 2202961	NM_032737.4(LMNB2):c.1285G>C (p.Gly429Arg)	LMNB2 (G429R)	Single nucleotide variant (missense variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GUncertain significance
Select item 2202643	NM_032737.4(LMNB2):c.856-12G>A	LMNB2, MIR7108	Single nucleotide variant (non-coding transcript variant +1 more)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GLikely benign
Select item 2197961	NM_032737.4(LMNB2):c.1572C>T (p.Arg524=)	LMNB2	Single nucleotide variant (synonymous variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GLikely benign
Select item 2193966	NM_032737.4(LMNB2):c.684+14C>T	LMNB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 2192391	NM_032737.4(LMNB2):c.559-19G>A	LMNB2	Single nucleotide variant (intron variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GLikely benign
Select item 2185512	NM_032737.4(LMNB2):c.281C>G (p.Ala94Gly)	LMNB2 (A94G)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 2182362	NM_032737.4(LMNB2):c.912C>T (p.Arg304=)	LMNB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 2181410	NM_032737.4(LMNB2):c.716G>A (p.Arg239Gln)	LMNB2 (R239Q)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 2180901	NM_032737.4(LMNB2):c.66C>T (p.Ala22=)	LMNB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 2179146	NM_032737.4(LMNB2):c.1437C>T (p.Ile479=)	LMNB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 2172779	NM_032737.4(LMNB2):c.1446G>A (p.Glu482=)	LMNB2	Single nucleotide variant (synonymous variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GLikely benign
Select item 2170009	NM_032737.4(LMNB2):c.798G>A (p.Gln266=)	LMNB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 2166750	NM_032737.4(LMNB2):c.707G>A (p.Arg236Gln)	LMNB2 (R236Q)	Single nucleotide variant (missense variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GUncertain significance
Select item 2163946	NM_032737.4(LMNB2):c.477C>G (p.Ser159Arg)	LMNB2 (S159R)	Single nucleotide variant (missense variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GUncertain significance
Select item 2163179	NM_032737.4(LMNB2):c.568G>C (p.Gly190Arg)	LMNB2 (G190R)	Single nucleotide variant (missense variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GUncertain significance
Select item 2159618	NM_032737.4(LMNB2):c.1551C>T (p.Phe517=)	LMNB2	Single nucleotide variant (synonymous variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GLikely benign
Select item 2159426	NM_032737.4(LMNB2):c.814C>T (p.Arg272Trp)	LMNB2 (R272W)	Single nucleotide variant (missense variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GUncertain significance
Select item 2159061	NM_032737.4(LMNB2):c.1591-8G>A	LMNB2	Single nucleotide variant (intron variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GLikely benign
Select item 2153842	NM_032737.4(LMNB2):c.1252A>C (p.Thr418Pro)	LMNB2 (T418P)	Single nucleotide variant (missense variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GUncertain significance
Select item 2149575	NM_032737.4(LMNB2):c.260G>A (p.Arg87His)	LMNB2, LOC130063065 (R87H)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 2149190	NM_032737.4(LMNB2):c.1693G>C (p.Val565Leu)	LMNB2 (V565L)	Single nucleotide variant (missense variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GUncertain significance
Select item 2147637	NM_032737.4(LMNB2):c.1822-20TCCT[3]	LMNB2	Microsatellite (intron variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 2147130	NM_032737.4(LMNB2):c.1545C>T (p.Tyr515=)	LMNB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 2146573	NM_032737.4(LMNB2):c.1444G>A (p.Glu482Lys)	LMNB2 (E482K)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 2143129	NM_032737.4(LMNB2):c.1365C>G (p.Gly455=)	LMNB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 9 +2 more	GLikely benign
Select item 2142915	NM_032737.4(LMNB2):c.1337G>A (p.Gly446Asp)	LMNB2 (G446D)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 2142440	NM_032737.4(LMNB2):c.739A>C (p.Ser247Arg)	LMNB2 (S247R)	Single nucleotide variant (missense variant)	LMNB2-related condition +2 more	GUncertain significance
Select item 2141872	NM_032737.4(LMNB2):c.1404C>G (p.Ala468=)	LMNB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 2107882	NM_032737.4(LMNB2):c.1585G>A (p.Val529Ile)	LMNB2 (V529I)	Single nucleotide variant (missense variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GUncertain significance
Select item 2106383	NM_032737.4(LMNB2):c.1729G>A (p.Val577Met)	LMNB2 (V577M)	Single nucleotide variant (missense variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GUncertain significance
Select item 2100666	NM_032737.4(LMNB2):c.1677C>G (p.Ser559Arg)	LMNB2 (S559R)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +1 more	GBenign
Select item 2096500	NM_032737.4(LMNB2):c.437A>G (p.Gln146Arg)	LMNB2 (Q146R)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 2083720	NM_032737.4(LMNB2):c.1037G>A (p.Arg346Gln)	LMNB2 (R346Q)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 2064424	NM_032737.4(LMNB2):c.1744G>A (p.Val582Met)	LMNB2 (V582M)	Single nucleotide variant (missense variant)	Lipodystrophy, partial, acquired, susceptibility to +2 more	GUncertain significance
Select item 2063817	NM_032737.4(LMNB2):c.1361C>G (p.Thr454Arg)	LMNB2 (T454R)	Single nucleotide variant (missense variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GUncertain significance
Select item 2063051	NM_032737.4(LMNB2):c.1377C>T (p.Ser459=)	LMNB2	Single nucleotide variant (synonymous variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GLikely benign
Select item 2061672	NM_032737.4(LMNB2):c.391G>A (p.Val131Ile)	LMNB2 (V131I)	Single nucleotide variant (missense variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GUncertain significance

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