6492[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932082, LOC129932083 +561 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	See cases	GPathogenic
Select item 57510	GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1	ABL2, ACBD6 +347 more	Copy number loss	See cases	GPathogenic
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	MIR488, MR1 +456 more	Copy number loss	See cases	GPathogenic
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129932021, LOC129932022 +478 more	Copy number loss	See cases	GPathogenic
Select item 60077	GRCh38/hg38 1q25.3-31.1(chr1:182137726-186931125)x1	APOBEC4, ARPC5 +160 more	Copy number loss	See cases	GPathogenic
Select item 1282385	NM_002293.4(LAMC1):c.-118A>G	LAMC1, LOC129932071	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 2535954	NM_002293.4(LAMC1):c.88G>T (p.Ala30Ser)	LAMC1 (A30S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322732	NM_002293.4(LAMC1):c.95G>C (p.Cys32Ser)	LAMC1 (C32S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233220	NM_002293.4(LAMC1):c.100C>G (p.Gln34Glu)	LAMC1 (Q34E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534227	NM_002293.4(LAMC1):c.139C>G (p.Pro47Ala)	LAMC1 (P47A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277457	NM_002293.4(LAMC1):c.167A>G (p.Asn56Ser)	LAMC1 (N56S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1179935	NM_002293.4(LAMC1):c.174C>T (p.Ala58=)	LAMC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2344649	NM_002293.4(LAMC1):c.179A>G (p.Asn60Ser)	LAMC1 (N60S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265656	NM_002293.4(LAMC1):c.181G>C (p.Val61Leu)	LAMC1 (V61L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117673	NM_002293.4(LAMC1):c.190G>C (p.Val64Leu)	LAMC1 (V64L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117674	NM_002293.4(LAMC1):c.220G>C (p.Glu74Gln)	LAMC1 (E74Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480091	NM_002293.4(LAMC1):c.232G>A (p.Val78Met)	LAMC1 (V78M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117681	NM_002293.4(LAMC1):c.308C>T (p.Ala103Val)	LAMC1 (A103V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117689	NM_002293.4(LAMC1):c.376G>C (p.Gly126Arg)	LAMC1 (G126R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534228	NM_002293.4(LAMC1):c.392G>A (p.Ser131Asn)	LAMC1 (S131N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1268679	NM_002293.4(LAMC1):c.418+89G>T	LAMC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225486	NM_002293.4(LAMC1):c.418+112C>G	LAMC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259725	NM_002293.4(LAMC1):c.418+169T>C	LAMC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2319731	NM_002293.4(LAMC1):c.467G>A (p.Arg156His)	LAMC1 (R156H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048970	NM_002293.4(LAMC1):c.507C>T (p.Asp169=)	LAMC1	Single nucleotide variant (synonymous variant)	LAMC1-related disorder	GLikely benign
Select item 3290053	NM_002293.4(LAMC1):c.552C>A (p.Asn184Lys)	LAMC1 (N184K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117697	NM_002293.4(LAMC1):c.553A>G (p.Thr185Ala)	LAMC1 (T185A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386184	NM_002293.4(LAMC1):c.572G>A (p.Arg191His)	LAMC1 (R191H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617612	NM_002293.4(LAMC1):c.584G>A (p.Arg195Lys)	LAMC1 (R195K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360073	NM_002293.4(LAMC1):c.621T>G (p.Asp207Glu)	LAMC1 (D207E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1229870	NM_002293.4(LAMC1):c.657C>T (p.Asn219=)	LAMC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3117698	NM_002293.4(LAMC1):c.698A>G (p.Asn233Ser)	LAMC1 (N233S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1276723	NM_002293.4(LAMC1):c.723+141T>C	LAMC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266163	NM_002293.4(LAMC1):c.724-115_724-114insG	LAMC1	Insertion (intron variant)	not provided	GBenign
Select item 2397582	NM_002293.4(LAMC1):c.757C>G (p.Leu253Val)	LAMC1 (L253V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117699	NM_002293.4(LAMC1):c.771C>A (p.Asn257Lys)	LAMC1 (N257K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053396	NM_002293.4(LAMC1):c.795C>T (p.Asn265=)	LAMC1	Single nucleotide variant (synonymous variant)	LAMC1-related disorder	GLikely benign
Select item 2555969	NM_002293.4(LAMC1):c.799C>T (p.Pro267Ser)	LAMC1 (P267S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 100838	NM_002293.4(LAMC1):c.814T>C (p.Ser272Pro)	LAMC1 (S272P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1252177	NM_002293.4(LAMC1):c.854+74C>T	LAMC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294806	NM_002293.4(LAMC1):c.854+77C>T	LAMC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178636	NM_002293.4(LAMC1):c.855-211C>T	LAMC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250945	NM_002293.4(LAMC1):c.855-114C>T	LAMC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3035424	NM_002293.4(LAMC1):c.873C>T (p.His291=)	LAMC1	Single nucleotide variant (synonymous variant)	LAMC1-related disorder	GLikely benign
Select item 1259085	NM_002293.4(LAMC1):c.882G>A (p.Glu294=)	LAMC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2302996	NM_002293.4(LAMC1):c.893A>G (p.Asn298Ser)	LAMC1 (N298S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1290361	NM_002293.4(LAMC1):c.894C>T (p.Asn298=)	LAMC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3042145	NM_002293.4(LAMC1):c.923A>G (p.Lys308Arg)	LAMC1 (K308R)	Single nucleotide variant (missense variant)	LAMC1-related disorder	GLikely benign
Select item 741421	NM_002293.4(LAMC1):c.927T>C (p.His309=)	LAMC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1294845	NM_002293.4(LAMC1):c.999G>A (p.Ala333=)	LAMC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1679690	NM_002293.4(LAMC1):c.1021+1G>A	LAMC1	Single nucleotide variant (splice donor variant)	LAMC1-associated syndrome	GUncertain significance
Select item 1263091	NM_002293.4(LAMC1):c.1021+64T>C	LAMC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294847	NM_002293.4(LAMC1):c.1022-118T>C	LAMC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2251203	NM_002293.4(LAMC1):c.1175A>G (p.Asn392Ser)	LAMC1 (N392S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1294801	NM_002293.4(LAMC1):c.1211-48A>G	LAMC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264795	NM_002293.4(LAMC1):c.1211-47C>A	LAMC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291744	NM_002293.4(LAMC1):c.1211-12T>C	LAMC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2284111	NM_002293.4(LAMC1):c.1235G>A (p.Ser412Asn)	LAMC1 (S412N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1279625	NM_002293.4(LAMC1):c.1242C>A (p.Gly414=)	LAMC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2563843	NM_002293.4(LAMC1):c.1294C>T (p.Pro432Ser)	LAMC1 (P432S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117665	NM_002293.4(LAMC1):c.1310T>G (p.Leu437Arg)	LAMC1 (L437R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1237159	NM_002293.4(LAMC1):c.1329-144C>T	LAMC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287150	NM_002293.4(LAMC1):c.1329-88dup	LAMC1	Duplication (intron variant)	not provided	GBenign
Select item 1244913	NM_002293.4(LAMC1):c.1329-89_1329-88dup	LAMC1	Duplication (intron variant)	not provided	GBenign
Select item 1228140	NM_002293.4(LAMC1):c.1329-16A>G	LAMC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3117666	NM_002293.4(LAMC1):c.1345C>G (p.Pro449Ala)	LAMC1 (P449A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1238059	NM_002293.4(LAMC1):c.1372A>G (p.Ile458Val)	LAMC1 (I458V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3117667	NM_002293.4(LAMC1):c.1403A>G (p.Asn468Ser)	LAMC1 (N468S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709713	NM_002293.4(LAMC1):c.1427+8A>G	LAMC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2402611	NM_002293.4(LAMC1):c.1552A>G (p.Thr518Ala)	LAMC1 (T518A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117668	NM_002293.4(LAMC1):c.1559A>C (p.Gln520Pro)	LAMC1 (Q520P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1241130	NM_002293.4(LAMC1):c.1564+152T>C	LAMC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294803	NM_002293.4(LAMC1):c.1564+200G>A	LAMC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3117669	NM_002293.4(LAMC1):c.1579C>T (p.Arg527Cys)	LAMC1 (R527C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047446	NM_002293.4(LAMC1):c.1580G>T (p.Arg527Leu)	LAMC1 (R527L)	Single nucleotide variant (missense variant)	LAMC1-related disorder	GLikely benign
Select item 2525413	NM_002293.4(LAMC1):c.1615G>C (p.Glu539Gln)	LAMC1 (E539Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1696717	NM_002293.4(LAMC1):c.1640T>C (p.Ile547Thr)	LAMC1 (I547T)	Single nucleotide variant (missense variant)	LAMC1-related autism spectrum disorder	GUncertain significance
Select item 2255024	NM_002293.4(LAMC1):c.1642G>A (p.Ala548Thr)	LAMC1 (A548T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719001	NM_002293.4(LAMC1):c.1669C>T (p.Arg557Trp)	LAMC1 (R557W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3290045	NM_002293.4(LAMC1):c.1706A>T (p.Gln569Leu)	LAMC1 (Q569L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313195	NM_002293.4(LAMC1):c.1756C>G (p.Arg586Gly)	LAMC1 (R586G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1242927	NM_002293.4(LAMC1):c.1776A>C (p.Ala592=)	LAMC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3117670	NM_002293.4(LAMC1):c.1813T>C (p.Ser605Pro)	LAMC1 (S605P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117672	NM_002293.4(LAMC1):c.1828G>A (p.Ala610Thr)	LAMC1 (A610T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229203	NM_002293.4(LAMC1):c.1915C>T (p.Leu639Phe)	LAMC1 (L639F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525006	NM_002293.4(LAMC1):c.1970G>A (p.Arg657His)	LAMC1 (R657H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1239319	NM_002293.4(LAMC1):c.1990+204A>T	LAMC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178948	NM_002293.4(LAMC1):c.1990+234A>C	LAMC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259633	NM_002293.4(LAMC1):c.1991-107A>G	LAMC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2489383	NM_002293.4(LAMC1):c.2146G>C (p.Gly716Arg)	LAMC1 (G716R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050450	NM_002293.4(LAMC1):c.2190C>T (p.Ser730=)	LAMC1	Single nucleotide variant (synonymous variant)	LAMC1-related disorder	GLikely benign
Select item 781586	NM_002293.4(LAMC1):c.2191G>A (p.Glu731Lys)	LAMC1 (E731K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1259023	NM_002293.4(LAMC1):c.2213-40T>C	LAMC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180166	NM_002293.4(LAMC1):c.2213-17G>A	LAMC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3034608	NM_002293.4(LAMC1):c.2213-5A>C	LAMC1	Single nucleotide variant (intron variant)	LAMC1-related disorder	GLikely benign
Select item 3057464	NM_002293.4(LAMC1):c.2226C>T (p.Cys742=)	LAMC1	Single nucleotide variant (synonymous variant)	LAMC1-related disorder	GLikely benign
Select item 66053	NM_002293.4(LAMC1):c.2237C>T (p.Thr746Met)	LAMC1 (T746M)	Single nucleotide variant (missense variant)	Variant of unknown significance	GUncertain significance
Select item 2639623	NM_002293.4(LAMC1):c.2292A>G (p.Ala764=)	LAMC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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