ClinVar for Gene (Select 4001) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 286

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3374934	NM_005573.4(LMNB1):c.1624A>G (p.Arg542Gly)	LMNB1 (R332G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3366160	NM_005573.4(LMNB1):c.352CTC[1] (p.Leu119del)	LMNB1, LOC129994507 (L119del)	Microsatellite (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3366157	NM_005573.4(LMNB1):c.878T>C (p.Leu293Pro)	LMNB1 (L293P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3363365	NM_005573.4(LMNB1):c.1279A>C (p.Ser427Arg)	LMNB1 (S217R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3363299	NM_005573.4(LMNB1):c.122A>G (p.Asp41Gly)	LMNB1 (D41G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3348193	NM_005573.4(LMNB1):c.877C>G (p.Leu293Val)	LMNB1 (L293V +1 more)	Single nucleotide variant (missense variant +1 more)	LMNB1-related disorder	GUncertain significance
Select item 3343965	NM_005573.4(LMNB1):c.97_99del (p.Lys33del)	LMNB1 (K33del)	Deletion (inframe_deletion +2 more)	not provided	GPathogenic
Select item 3343077	NM_005573.4(LMNB1):c.1491+1G>A	LMNB1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3339063	NM_005573.4(LMNB1):c.495T>C (p.Asp165=)	LMNB1	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 3290963	NM_005573.4(LMNB1):c.1224T>A (p.Ser408Arg)	LMNB1 (S198R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3290962	NM_005573.4(LMNB1):c.173G>A (p.Ser58Asn)	LMNB1 (S58N)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3290961	NM_005573.4(LMNB1):c.1086G>T (p.Gln362His)	LMNB1 (Q152H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3254809	NM_005573.4(LMNB1):c.1283G>C (p.Ser428Thr)	LMNB1 (S218T +1 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 26, primary, autosomal dominant	GUncertain significance
Select item 3251581	NC_000005.9:g.(?_126112827)_(126172713_?)dup	LMNB1	Duplication	LMNB1-related disorder	GPathogenic
Select item 3242297	GRCh37/hg19 5q23.2-31.1(chr5:124864529-134720575)x1	FSTL4, GDF9 +63 more	Copy number loss	not provided	GPathogenic
Select item 3234997	NM_005573.4(LMNB1):c.382C>G (p.Leu128Val)	LMNB1 (L128V)	Single nucleotide variant (5 prime UTR variant +2 more)	Microcephaly 26, primary, autosomal dominant	GUncertain significance
Select item 3119315	NM_005573.4(LMNB1):c.622C>T (p.Arg208Cys)	LMNB1 (R208C)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3119314	NM_005573.4(LMNB1):c.463G>A (p.Asp155Asn)	LMNB1 (D155N)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3119313	NM_005573.4(LMNB1):c.385A>G (p.Asn129Asp)	LMNB1 (N129D)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3119312	NM_005573.4(LMNB1):c.23C>A (p.Pro8Gln)	LMNB1 (P8Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3119311	NM_005573.4(LMNB1):c.206A>G (p.Glu69Gly)	LMNB1 (E69G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3119310	NM_005573.4(LMNB1):c.1716G>C (p.Gln572His)	LMNB1 (Q572H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3119309	NM_005573.4(LMNB1):c.1668G>T (p.Glu556Asp)	LMNB1 (E346D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3119308	NM_005573.4(LMNB1):c.1524C>A (p.Ser508Arg)	LMNB1 (S298R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3119307	NM_005573.4(LMNB1):c.1364G>A (p.Arg455His)	LMNB1 (R245H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3119306	NM_005573.4(LMNB1):c.1295T>A (p.Ile432Asn)	LMNB1 (I432N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3065585	NM_005573.4(LMNB1):c.89T>A (p.Leu30His)	LMNB1 (L30H)	Single nucleotide variant (missense variant +2 more)	Adult-onset autosomal dominant demyelinating leukodystrophy	GUncertain significance
Select item 3062826	GRCh37/hg19 5q23.2-23.3(chr5:125506060-128162785)x3	ALDH7A1, C5orf63 +10 more	Copy number gain	not specified	GPathogenic
Select item 3057796	NM_005573.4(LMNB1):c.1572C>T (p.Gly524=)	LMNB1	Single nucleotide variant (synonymous variant +1 more)	LMNB1-related disorder	GLikely benign
Select item 3033255	NM_005573.4(LMNB1):c.696T>C (p.Ser232=)	LMNB1	Single nucleotide variant (synonymous variant +1 more)	LMNB1-related disorder	GLikely benign
Select item 3025725	NM_005573.4(LMNB1):c.1582A>G (p.Lys528Glu)	LMNB1 (K318E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3025111	NM_005573.4(LMNB1):c.1221T>C (p.Arg407=)	LMNB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3019066	NM_005573.4(LMNB1):c.1223G>A (p.Ser408Asn)	LMNB1 (S198N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2993521	NM_005573.4(LMNB1):c.1513G>A (p.Val505Ile)	LMNB1 (V295I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2990708	NM_005573.4(LMNB1):c.1255G>A (p.Val419Ile)	LMNB1 (V209I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2985484	NM_005573.4(LMNB1):c.1387-8G>A	LMNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978393	NM_005573.4(LMNB1):c.74C>T (p.Thr25Met)	LMNB1 (T25M)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2960970	NM_005573.4(LMNB1):c.675G>A (p.Thr225=)	LMNB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2960650	NM_005573.4(LMNB1):c.18C>T (p.Pro6=)	LMNB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2954710	NM_005573.4(LMNB1):c.359+9T>C	LMNB1, LOC129994507	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2907583	NM_005573.4(LMNB1):c.451A>G (p.Thr151Ala)	LMNB1 (T151A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2816260	NM_005573.4(LMNB1):c.1386+13A>G	LMNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2807592	NM_005573.4(LMNB1):c.1008T>C (p.Arg336=)	LMNB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2722634	NM_005573.4(LMNB1):c.1628G>T (p.Ser543Ile)	LMNB1 (S333I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2704407	NM_005573.4(LMNB1):c.743A>T (p.Glu248Val)	LMNB1 (E248V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2682189	NM_005573.4(LMNB1):c.1160+6G>A	LMNB1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2673023	NM_005573.4(LMNB1):c.1006C>T (p.Arg336Cys)	LMNB1 (R126C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2662091	NM_005573.4(LMNB1):c.1376C>T (p.Thr459Ile)	LMNB1 (T249I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2655668	NM_005573.4(LMNB1):c.1039G>C (p.Ala347Pro)	LMNB1 (A137P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2655667	NM_005573.4(LMNB1):c.882G>A (p.Met294Ile)	LMNB1 (M294I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2655666	NM_005573.4(LMNB1):c.212G>A (p.Arg71His)	LMNB1 (R71H)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2635283	NM_005573.4(LMNB1):c.923C>G (p.Ser308Cys)	LMNB1 (S308C +1 more)	Single nucleotide variant (missense variant +1 more)	LMNB1-related disorder	GUncertain significance
Select item 2631298	NM_005573.4(LMNB1):c.386A>T (p.Asn129Ile)	LMNB1 (N129I)	Single nucleotide variant (5 prime UTR variant +2 more)	LMNB1-related disorder	GUncertain significance
Select item 2608583	NM_005573.4(LMNB1):c.548A>G (p.Gln183Arg)	LMNB1 (Q183R)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2601351	NM_005573.4(LMNB1):c.1079A>G (p.Tyr360Cys)	LMNB1 (Y150C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2599057	NM_005573.4(LMNB1):c.1361T>C (p.Ile454Thr)	LMNB1 (I454T +1 more)	Single nucleotide variant (missense variant +1 more)	LMNB1-related disorder +2 more	GUncertain significance
Select item 2585444	NM_005573.4(LMNB1):c.916C>T (p.Gln306Ter)	LMNB1 (Q306* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Adult-onset autosomal dominant demyelinating leukodystrophy	GUncertain significance
Select item 2582601	NM_005573.4(LMNB1):c.227C>T (p.Thr76Ile)	LMNB1 (T76I)	Single nucleotide variant (missense variant +2 more)	Adult-onset autosomal dominant demyelinating leukodystrophy	GUncertain significance
Select item 2580713	NM_005573.4(LMNB1):c.682del (p.Leu227_Val228insTer)	LMNB1	Deletion (nonsense +1 more)	not provided	GUncertain significance
Select item 2579475	NM_005573.4(LMNB1):c.1251G>T (p.Lys417Asn)	LMNB1 (K207N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2575710	NM_005573.4(LMNB1):c.100GAG[1] (p.Glu35del)	LMNB1 (E35del)	Microsatellite (inframe_deletion +2 more)	not provided	GUncertain significance
Select item 2574911	NM_005573.4(LMNB1):c.778T>C (p.Tyr260His)	LMNB1 (Y260H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2574877	NM_005573.4(LMNB1):c.946G>C (p.Ala316Pro)	LMNB1 (A106P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2554385	NM_005573.4(LMNB1):c.1400G>C (p.Gly467Ala)	LMNB1 (G257A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2539619	NM_005573.4(LMNB1):c.232C>T (p.Leu78Phe)	LMNB1 (L78F)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2535447	NM_005573.4(LMNB1):c.1721G>A (p.Gly574Glu)	LMNB1 (G364E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2510402	NM_005573.4(LMNB1):c.266C>T (p.Ala89Val)	LMNB1 (A89V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2504777	NM_005573.4(LMNB1):c.1491+4A>T	LMNB1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2504018	NM_005573.4(LMNB1):c.43G>A (p.Ala15Thr)	LMNB1 (A15T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2476790	NM_005573.4(LMNB1):c.1216A>C (p.Ser406Arg)	LMNB1 (S196R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2444231	NM_005573.4(LMNB1):c.814-1G>T	LMNB1	Single nucleotide variant (splice acceptor variant)	Microcephaly 26, primary, autosomal dominant	GLikely pathogenic
Select item 2443339	NM_005573.4(LMNB1):c.455C>T (p.Ala152Val)	LMNB1 (A152V)	Single nucleotide variant (5 prime UTR variant +2 more)	Microcephaly 26, primary, autosomal dominant	GLikely benign
Select item 2433486	NM_005573.4(LMNB1):c.251C>T (p.Thr84Ile)	LMNB1 (T84I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2433485	NM_005573.4(LMNB1):c.164C>G (p.Thr55Arg)	LMNB1 (T55R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2433484	NM_005573.4(LMNB1):c.1490C>T (p.Thr497Ile)	LMNB1 (T287I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2421676	NM_005573.4(LMNB1):c.1662G>A (p.Glu554=)	LMNB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2420729	NM_005573.4(LMNB1):c.1528C>T (p.Pro510Ser)	LMNB1 (P300S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2402655	NM_005573.4(LMNB1):c.1343A>G (p.Asp448Gly)	LMNB1 (D238G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2395805	NM_005573.4(LMNB1):c.633G>C (p.Met211Ile)	LMNB1 (M1I +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2387683	NM_005573.4(LMNB1):c.482G>C (p.Gly161Ala)	LMNB1 (G161A)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2381801	NM_005573.4(LMNB1):c.1676A>C (p.Glu559Ala)	LMNB1 (E559A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2328028	NM_005573.4(LMNB1):c.340C>T (p.His114Tyr)	LMNB1 (H114Y)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2315027	NM_005573.4(LMNB1):c.841A>G (p.Met281Val)	LMNB1 (M71V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2307987	NM_005573.4(LMNB1):c.338A>G (p.Glu113Gly)	LMNB1 (E113G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2291599	NM_005573.4(LMNB1):c.1114A>G (p.Met372Val)	LMNB1 (M162V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2276889	NM_005573.4(LMNB1):c.506A>G (p.Gln169Arg)	LMNB1 (Q169R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +1 more	GUncertain significance
Select item 2269026	NM_005573.4(LMNB1):c.348G>C (p.Gln116His)	LMNB1, LOC129994507 (Q116H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2237633	NM_005573.4(LMNB1):c.1398G>A (p.Met466Ile)	LMNB1 (M466I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2234603	NM_005573.4(LMNB1):c.16C>T (p.Pro6Ser)	LMNB1 (P6S)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2219890	NM_005573.4(LMNB1):c.478G>C (p.Glu160Gln)	LMNB1 (E160Q)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2205569	NM_005573.4(LMNB1):c.94_96del (p.Glu32del)	LMNB1 (E32del)	Deletion (inframe_deletion +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2204776	NM_005573.4(LMNB1):c.1504A>T (p.Asn502Tyr)	LMNB1 (N502Y +1 more)	Single nucleotide variant (missense variant +1 more)	LMNB1-related disorder +1 more	GUncertain significance
Select item 2185807	NM_005573.4(LMNB1):c.1498G>T (p.Ala500Ser)	LMNB1 (A290S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2182420	NM_005573.4(LMNB1):c.729G>A (p.Ala243=)	LMNB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2182156	NM_005573.4(LMNB1):c.1161-10T>C	LMNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2179356	NM_005573.4(LMNB1):c.1305C>T (p.Ser435=)	LMNB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2172903	NM_005573.4(LMNB1):c.516+5G>A	LMNB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2168701	NM_005573.4(LMNB1):c.701G>A (p.Arg234His)	LMNB1 (R234H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2141626	NM_005573.4(LMNB1):c.1662GGA[5] (p.Glu559_Ala560insGlu)	LMNB1	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2139721	NM_005573.4(LMNB1):c.814-3T>C	LMNB1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity

<< First< Prev

Page of 3