ClinVar for Gene (Select 10319) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245343	NC_000009.11:g.(?_133540041)_(133884994_?)dup	ABL1, EXOSC2 +4 more	Duplication	not provided	GUncertain significance
Select item 3245340	NC_000009.11:g.(?_133951198)_(133952741_?)del	LAMC3	Deletion	not provided	GPathogenic
Select item 3245338	NC_000009.11:g.(?_133920891)_(133921067_?)del	LAMC3	Deletion	not provided	GPathogenic
Select item 3245337	NC_000009.11:g.(?_133901652)_(133901996_?)del	LAMC3	Deletion	not provided	GPathogenic
Select item 3245294	NC_000009.11:g.(?_131678355)_(140095163_?)dup	SURF1, ABCA2 +147 more	Duplication	not provided	GUncertain significance
Select item 3245116	NC_000009.11:g.(?_131346980)_(135942612_?)dup	ABL1, AIF1L +62 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3117735	NM_006059.4(LAMC3):c.854C>T (p.Ala285Val)	LAMC3 (A285V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117734	NM_006059.4(LAMC3):c.4687A>G (p.Ile1563Val)	LAMC3 (I1563V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117732	NM_006059.4(LAMC3):c.4492C>T (p.His1498Tyr)	LAMC3 (H1498Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117729	NM_006059.4(LAMC3):c.3647C>T (p.Ala1216Val)	LAMC3 (A1216V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117728	NM_006059.4(LAMC3):c.347C>T (p.Thr116Ile)	LAMC3 (T116I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117726	NM_006059.4(LAMC3):c.299G>C (p.Ser100Thr)	LAMC3 (S100T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117724	NM_006059.4(LAMC3):c.2653G>T (p.Gly885Cys)	LAMC3 (G885C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117723	NM_006059.4(LAMC3):c.2641G>A (p.Asp881Asn)	LAMC3 (D881N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117721	NM_006059.4(LAMC3):c.2171G>T (p.Cys724Phe)	LAMC3 (C724F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117718	NM_006059.4(LAMC3):c.1609G>A (p.Glu537Lys)	LAMC3 (E537K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117717	NM_006059.4(LAMC3):c.1253G>A (p.Gly418Glu)	LAMC3 (G418E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3069054	NM_006059.4(LAMC3):c.2981G>A (p.Cys994Tyr)	LAMC3 (C994Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3064937	NM_006059.4(LAMC3):c.1141C>T (p.Gln381Ter)	LAMC3 (Q381*)	Single nucleotide variant (nonsense)	Occipital pachygyria and polymicrogyria	GLikely pathogenic
Select item 3063094	GRCh37/hg19 9q34.11-34.13(chr9:131815597-134209182)x1	ABL1, AIF1L +29 more	Copy number loss	not specified	GPathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 3023807	NM_006059.4(LAMC3):c.4395C>T (p.Ser1465=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019010	NM_006059.4(LAMC3):c.1791C>T (p.Ala597=)	LAMC3, LOC126860777	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3008349	NM_006059.4(LAMC3):c.4031-15C>T	LAMC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008188	NM_006059.4(LAMC3):c.1283+14G>A	LAMC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007470	NM_006059.4(LAMC3):c.1519+18C>T	LAMC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007454	NM_006059.4(LAMC3):c.3567G>A (p.Ala1189=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007390	NM_006059.4(LAMC3):c.4378-11C>G	LAMC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006139	NM_006059.4(LAMC3):c.2190C>T (p.Gly730=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005264	NM_006059.4(LAMC3):c.4158C>T (p.Asn1386=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004776	NM_006059.4(LAMC3):c.3494+8C>T	LAMC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003902	NM_006059.4(LAMC3):c.106del (p.Leu36fs)	LAMC3 (L36fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3003538	NM_006059.4(LAMC3):c.2747+19C>T	LAMC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003367	NM_006059.4(LAMC3):c.2748-9T>C	LAMC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001996	NM_006059.4(LAMC3):c.2076G>A (p.Lys692=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001086	NM_006059.4(LAMC3):c.1630+16G>A	LAMC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000305	NM_006059.4(LAMC3):c.3211+16A>G	LAMC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999163	NM_006059.4(LAMC3):c.1092_1093del (p.Cys364_Glu365delinsTer)	LAMC3	Microsatellite (nonsense)	not provided	GPathogenic
Select item 2991919	NM_006059.4(LAMC3):c.2505G>A (p.Leu835=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991605	NM_006059.4(LAMC3):c.4086A>C (p.Ala1362=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991231	NM_006059.4(LAMC3):c.1824-15C>G	LAMC3, LOC126860777	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990738	NM_006059.4(LAMC3):c.2004C>G (p.Ser668=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988733	NM_006059.4(LAMC3):c.1519+17G>A	LAMC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988590	NM_006059.4(LAMC3):c.1166-18G>A	LAMC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988355	NM_006059.4(LAMC3):c.3532dup (p.Trp1178fs)	LAMC3 (W1178fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2987496	NM_006059.4(LAMC3):c.27G>T (p.Gly9=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985367	NM_006059.4(LAMC3):c.417C>G (p.Thr139=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984770	NM_006059.4(LAMC3):c.3702C>T (p.Ser1234=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984463	NM_006059.4(LAMC3):c.4662C>T (p.Arg1554=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984137	NM_006059.4(LAMC3):c.1823+10C>T	LAMC3, LOC126860777	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982781	NM_006059.4(LAMC3):c.540C>T (p.Arg180=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982740	NM_006059.4(LAMC3):c.3614G>A (p.Arg1205Gln)	LAMC3 (R1205Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978696	NM_006059.4(LAMC3):c.3418-8T>C	LAMC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977957	NM_006059.4(LAMC3):c.2391G>A (p.Pro797=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976838	NM_006059.4(LAMC3):c.264C>T (p.Ala88=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975424	NM_006059.4(LAMC3):c.459C>T (p.Ala153=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973038	NM_006059.4(LAMC3):c.2851C>T (p.Gln951Ter)	LAMC3 (Q951*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2970058	NM_006059.4(LAMC3):c.2348-19G>A	LAMC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969382	NM_006059.4(LAMC3):c.3353T>C (p.Leu1118Pro)	LAMC3 (L1118P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969276	NM_006059.4(LAMC3):c.54C>T (p.Ala18=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968508	NM_006059.4(LAMC3):c.1746G>A (p.Leu582=)	LOC126860777, LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967520	NM_006059.4(LAMC3):c.3629+7C>T	LAMC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967215	NM_006059.4(LAMC3):c.1188T>C (p.Asp396=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966741	NM_006059.4(LAMC3):c.3211+20C>T	LAMC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966355	NM_006059.4(LAMC3):c.4478-7A>C	LAMC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966296	NM_006059.4(LAMC3):c.1401T>C (p.Phe467=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965764	NM_006059.4(LAMC3):c.4266G>A (p.Ala1422=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963645	NM_006059.4(LAMC3):c.3069+11C>T	LAMC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961458	NM_006059.4(LAMC3):c.2244A>G (p.Gln748=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2955022	NM_006059.4(LAMC3):c.4478-11C>G	LAMC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2917004	NM_006059.4(LAMC3):c.1674C>G (p.Leu558=)	LAMC3, LOC126860777	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2915875	NM_006059.4(LAMC3):c.4308G>T (p.Thr1436=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2915722	NM_006059.4(LAMC3):c.1668G>A (p.Gln556=)	LAMC3, LOC126860777	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2911750	NM_006059.4(LAMC3):c.789C>T (p.Ser263=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2909358	NM_006059.4(LAMC3):c.2532G>A (p.Glu844=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906668	NM_006059.4(LAMC3):c.1551G>T (p.Gly517=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906426	NM_006059.4(LAMC3):c.618C>T (p.Ala206=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903115	NM_006059.4(LAMC3):c.1939G>T (p.Gly647Cys)	LAMC3 (G647C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2898828	NM_006059.4(LAMC3):c.977-2A>T	LAMC3	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2898472	NM_006059.4(LAMC3):c.330C>T (p.Phe110=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896751	NM_006059.4(LAMC3):c.4525C>G (p.Gln1509Glu)	LAMC3 (Q1509E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896750	NM_006059.4(LAMC3):c.1310G>C (p.Ser437Thr)	LAMC3 (S437T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895059	NM_006059.4(LAMC3):c.1570C>T (p.Gln524Ter)	LAMC3 (Q524*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2892706	NM_006059.4(LAMC3):c.213G>A (p.Gly71=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892608	NM_006059.4(LAMC3):c.1701G>T (p.Gly567=)	LAMC3, LOC126860777	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888005	NM_006059.4(LAMC3):c.4563C>T (p.Ser1521=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2880834	NM_006059.4(LAMC3):c.645C>T (p.Ser215=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2880524	NM_006059.4(LAMC3):c.351G>A (p.Ser117=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879604	NM_006059.4(LAMC3):c.546C>T (p.Gly182=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878449	NM_006059.4(LAMC3):c.3211+1G>A	LAMC3	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2878096	NM_006059.4(LAMC3):c.3153C>T (p.Asp1051=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2876594	NM_006059.4(LAMC3):c.1095G>A (p.Glu365=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2876394	NM_006059.4(LAMC3):c.4377+5G>A	LAMC3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2876126	NM_006059.4(LAMC3):c.3838G>A (p.Ala1280Thr)	LAMC3 (A1280T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875152	NM_006059.4(LAMC3):c.888C>T (p.Thr296=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874892	NM_006059.4(LAMC3):c.3372C>T (p.Ser1124=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874861	NM_006059.4(LAMC3):c.1674C>T (p.Leu558=)	LAMC3, LOC126860777	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873091	NM_006059.4(LAMC3):c.2928G>A (p.Gln976=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872630	NM_006059.4(LAMC3):c.1413C>T (p.Pro471=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869935	NM_006059.4(LAMC3):c.3417+10G>A	LAMC3	Single nucleotide variant (intron variant)	not provided	GLikely benign

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