Related gene-specific medical variations for Gene (Select 84823) - ClinVar

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Links from Gene

Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 2648977	NM_032737.4(LMNB2):c.16C>G (p.Pro6Ala)	LMNB2, LOC130063066 (P6A)	Single nucleotide variant (missense variant)	not provided	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 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 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 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 2327587	NM_032737.4(LMNB2):c.218G>C (p.Arg73Pro)	LMNB2, LOC130063065 (R73P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2202643	NM_032737.4(LMNB2):c.856-12G>A	LMNB2, MIR7108	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 2149575	NM_032737.4(LMNB2):c.260G>A (p.Arg87His)	LMNB2, LOC130063065 (R87H)	Single nucleotide variant (missense variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GUncertain significance
Select item 1904637	NM_032737.4(LMNB2):c.27T>C (p.Arg9=)	LMNB2, LOC130063066	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 1807129	NM_032737.4(LMNB2):c.1711-6G>C	LMNB2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1666353	NM_032737.4(LMNB2):c.855+14G>A	LMNB2, MIR7108	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 1650454	NM_032737.4(LMNB2):c.855+16G>A	LMNB2, MIR7108	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 1645834	NM_032737.4(LMNB2):c.856-14C>G	LMNB2, MIR7108	Single nucleotide variant (non-coding transcript variant +1 more)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GBenign
Select item 1630523	NM_032737.4(LMNB2):c.856-17C>T	LMNB2, MIR7108	Single nucleotide variant (non-coding transcript variant +1 more)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GLikely benign
Select item 1627699	NM_032737.4(LMNB2):c.856-10C>T	MIR7108, LMNB2	Single nucleotide variant (non-coding transcript variant +1 more)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GLikely benign
Select item 1594128	NM_032737.4(LMNB2):c.249G>A (p.Glu83=)	LMNB2, LOC130063065	Single nucleotide variant (synonymous variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GLikely benign
Select item 1593764	NM_032737.4(LMNB2):c.264+15T>C	LMNB2, LOC130063065	Single nucleotide variant (intron variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GLikely benign
Select item 1590277	NM_032737.4(LMNB2):c.22C>T (p.Arg8Cys)	LMNB2, LOC130063066 (R8C)	Single nucleotide variant (missense variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GLikely benign
Select item 1568994	NM_032737.4(LMNB2):c.10C>T (p.Pro4Ser)	LMNB2, LOC130063066 (P4S)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 1545778	NM_032737.4(LMNB2):c.264+9del	LMNB2, LOC130063065	Deletion (intron variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 1540427	NM_032737.4(LMNB2):c.222C>T (p.Leu74=)	LMNB2, LOC130063065	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 1489287	NM_032737.4(LMNB2):c.26G>A (p.Arg9His)	LMNB2, LOC130063066 (R9H)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 1479740	NM_032737.4(LMNB2):c.855+15C>T	LMNB2, MIR7108	Single nucleotide variant (non-coding transcript variant +1 more)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GUncertain significance
Select item 1459486	NM_032737.4(LMNB2):c.6C>T (p.Ser2=)	LMNB2, LOC130063066	Single nucleotide variant (synonymous variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GLikely benign
Select item 1439036	NM_032737.4(LMNB2):c.37C>T (p.Arg13Cys)	LMNB2, LOC130063066 (R13C)	Single nucleotide variant (missense variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GUncertain significance
Select item 1427479	NM_032737.4(LMNB2):c.5G>A (p.Ser2Asn)	LOC130063066, LMNB2 (S2N)	Single nucleotide variant (missense variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GLikely benign
Select item 1423028	NM_032737.4(LMNB2):c.23G>A (p.Arg8His)	LMNB2, LOC130063066 (R8H)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 1418135	NM_032737.4(LMNB2):c.29G>C (p.Arg10Pro)	LMNB2, LOC130063066 (R10P)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 1416533	NM_032737.4(LMNB2):c.14G>T (p.Ser5Ile)	LMNB2, LOC130063066 (S5I)	Single nucleotide variant (missense variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GUncertain significance
Select item 1414504	NM_032737.4(LMNB2):c.8C>G (p.Pro3Arg)	LMNB2, LOC130063066 (P3R)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 1411053	NM_032737.4(LMNB2):c.43C>T (p.Pro15Ser)	LMNB2, LOC130063066 (P15S)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 1364602	NM_032737.4(LMNB2):c.29G>T (p.Arg10Leu)	LMNB2, LOC130063066 (R10L)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 1267290	NM_032737.4(LMNB2):c.856-30G>A	LMNB2, MIR7108	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1254069	NM_032737.4(LMNB2):c.264+260G>T	LOC130063064, LMNB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1155298	NM_032737.4(LMNB2):c.51C>T (p.Ala17=)	LMNB2, LOC130063066	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 1147962	NM_032737.4(LMNB2):c.198G>A (p.Ala66=)	LMNB2, LOC130063065	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 1133227	NM_032737.4(LMNB2):c.204G>A (p.Glu68=)	LMNB2, LOC130063065	Single nucleotide variant (synonymous variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GLikely benign
Select item 1130905	NM_032737.4(LMNB2):c.18G>C (p.Pro6=)	LMNB2, LOC130063066	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 1124721	NM_032737.4(LMNB2):c.228C>G (p.Leu76=)	LMNB2, LOC130063065	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 1104013	NM_032737.4(LMNB2):c.252G>C (p.Val84=)	LMNB2, LOC130063065	Single nucleotide variant (synonymous variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GLikely benign
Select item 1077511	NM_032737.4(LMNB2):c.855+9G>T	LMNB2, MIR7108	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 963214	NM_032737.4(LMNB2):c.35A>C (p.Gln12Pro)	LMNB2, LOC130063066 (Q12P)	Single nucleotide variant (missense variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GUncertain significance
Select item 949051	NM_032737.4(LMNB2):c.25C>T (p.Arg9Cys)	LOC130063066, LMNB2 (R9C)	Single nucleotide variant (missense variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GLikely benign
Select item 857706	NM_032737.4(LMNB2):c.49G>T (p.Ala17Ser)	LMNB2, LOC130063066 (A17S)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 797249	NM_032737.4(LMNB2):c.15C>T (p.Ser5=)	LMNB2, LOC130063066	Single nucleotide variant (synonymous variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GLikely benign
Select item 796402	NM_032737.4(LMNB2):c.180C>T (p.Tyr60=)	LMNB2, LOC130063065	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 648011	NM_032737.4(LMNB2):c.16C>T (p.Pro6Ser)	LMNB2, LOC130063066 (P6S)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 578139	NM_032737.4(LMNB2):c.11C>T (p.Pro4Leu)	LMNB2, LOC130063066 (P4L)	Single nucleotide variant (missense variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GBenign
Select item 576541	NM_032737.4(LMNB2):c.177C>A (p.His59Gln)	LMNB2, LOC130063065 (H59Q)	Single nucleotide variant (missense variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GUncertain significance
Select item 542445	NM_032737.4(LMNB2):c.255C>G (p.Thr85=)	LMNB2, LOC130063065	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 542444	NM_032737.4(LMNB2):c.855+8C>T	LMNB2, MIR7108	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GLikely benign
Select item 542443	NM_032737.4(LMNB2):c.264+7G>T	LMNB2, LOC130063065	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 475787	NM_032737.4(LMNB2):c.856-8C>T	LMNB2, MIR7108	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 447703	NM_032737.4(LMNB2):c.55G>A (p.Ala19Thr)	LMNB2, LOC130063066 (A19T)	Single nucleotide variant (missense variant)	Lipodystrophy, partial, acquired, susceptibility to +3 more	GBenign
Select item 208979	LMNB2, TYR232HIS	LMNB2	Single nucleotide variant	Acquired partial lipodystrophy	Grisk factor
Select item 66747	NM_032737.4(LMNB2):c.142G>A (p.Glu48Lys)	LMNB2 (E48K)	Single nucleotide variant (missense variant)	not provided	Gnot provided

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Links from Gene

Items: 62