LAMC3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	LOC130002527, LOC130002528 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003109, LOC130003110 +1210 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	LOC130002885, LOC130002886 +789 more	Copy number gain	See cases	GPathogenic
Select item 59908	GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	PAEP, PIERCE1 +536 more	Copy number gain	See cases	GPathogenic
Select item 59135	GRCh38/hg38 9q34.11-34.13(chr9:129949815-132342490)x1	LOC130002822, LOC130002823 +160 more	Copy number loss	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	ABCA2, ABL1 +656 more	Copy number gain	See cases	GPathogenic
Select item 1295674	NC_000009.12:g.131008961C>T	LAMC3	Single nucleotide variant	not provided	GBenign
Select item 1201991	NC_000009.12:g.131008962T>G	LAMC3	Single nucleotide variant	not provided	GLikely benign
Select item 390044	NM_006059.3(LAMC3):c.-47C>G	LAMC3	Single nucleotide variant	not specified	GLikely benign
Select item 138070	NM_006059.3(LAMC3):c.-42C>G	LAMC3	Single nucleotide variant	not specified	GBenign
Select item 381809	NM_006059.4(LAMC3):c.-39G>A	LAMC3	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 291084	NM_006059.4(LAMC3):c.-2C>T	LAMC3	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2433395	NM_006059.4(LAMC3):c.5C>T (p.Ala2Val)	LAMC3 (A2V)	Single nucleotide variant (missense variant)	Occipital pachygyria and polymicrogyria	GUncertain significance
Select item 429947	NM_006059.4(LAMC3):c.14C>T (p.Ala5Val)	LAMC3 (A5V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1921404	NM_006059.4(LAMC3):c.31_36dup (p.Leu12_Leu13insAlaLeu)	LAMC3	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2987496	NM_006059.4(LAMC3):c.27G>T (p.Gly9=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1402546	NM_006059.4(LAMC3):c.33_41del (p.Leu12_Ala14del)	LAMC3	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 377211	NM_006059.4(LAMC3):c.42_50dup (p.Pro15_Ala17dup)	LAMC3	Duplication (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2708682	NM_006059.4(LAMC3):c.39G>A (p.Leu13=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2005783	NM_006059.4(LAMC3):c.42A>C (p.Ala14=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1443936	NM_006059.4(LAMC3):c.49G>A (p.Ala17Thr)	LAMC3 (A17T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1510431	NM_006059.4(LAMC3):c.52G>T (p.Ala18Ser)	LAMC3 (A18S)	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 1304792	NM_006059.4(LAMC3):c.58G>T (p.Ala20Ser)	LAMC3 (A20S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2659620	NM_006059.4(LAMC3):c.59C>T (p.Ala20Val)	LAMC3 (A20V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441103	NM_006059.4(LAMC3):c.63del (p.Met22fs)	LAMC3 (M22fs)	Deletion (frameshift variant)	Occipital pachygyria and polymicrogyria	GLikely pathogenic
Select item 1617476	NM_006059.4(LAMC3):c.63C>A (p.Gly21=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2144542	NM_006059.4(LAMC3):c.71C>T (p.Ala24Val)	LAMC3 (A24V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 129472	NM_006059.4(LAMC3):c.75C>T (p.Cys25=)	LAMC3	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2094064	NM_006059.4(LAMC3):c.92_93delinsTT (p.Arg31Leu)	LAMC3 (R31L)	Indel (missense variant)	not provided	GUncertain significance
Select item 129475	NM_006059.4(LAMC3):c.92G>T (p.Arg31Leu)	LAMC3 (R31L)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 2752534	NM_006059.4(LAMC3):c.96G>T (p.Pro32=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2278979	NM_006059.4(LAMC3):c.98A>C (p.Gln33Pro)	LAMC3 (Q33P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3003902	NM_006059.4(LAMC3):c.106del (p.Leu36fs)	LAMC3 (L36fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1604336	NM_006059.4(LAMC3):c.105C>T (p.Cys35=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1426428	NM_006059.4(LAMC3):c.110C>T (p.Pro37Leu)	LAMC3 (P37L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1642482	NM_006059.4(LAMC3):c.111G>C (p.Pro37=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2134796	NM_006059.4(LAMC3):c.120G>C (p.Glu40Asp)	LAMC3 (E40D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1615921	NM_006059.4(LAMC3):c.123C>T (p.Asn41=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1921951	NM_006059.4(LAMC3):c.128C>T (p.Ala43Val)	LAMC3 (A43V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1957631	NM_006059.4(LAMC3):c.141C>T (p.Leu47=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1314436	NM_006059.4(LAMC3):c.142G>T (p.Ala48Ser)	LAMC3 (A48S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2101840	NM_006059.4(LAMC3):c.145C>T (p.Gln49Ter)	LAMC3 (Q49*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 291085	NM_006059.4(LAMC3):c.146A>G (p.Gln49Arg)	LAMC3 (Q49R)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 2060252	NM_006059.4(LAMC3):c.153G>T (p.Ser51=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1915225	NM_006059.4(LAMC3):c.162C>T (p.Cys54=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1477048	NM_006059.4(LAMC3):c.162C>G (p.Cys54Trp)	LAMC3 (C54W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1509435	NM_006059.4(LAMC3):c.169C>T (p.Pro57Ser)	LAMC3 (P57S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1640400	NM_006059.4(LAMC3):c.171G>A (p.Pro57=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869000	NM_006059.4(LAMC3):c.174C>G (p.Pro58=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1930552	NM_006059.4(LAMC3):c.187C>A (p.Pro63Thr)	LAMC3 (P63T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1510011	NM_006059.4(LAMC3):c.190C>A (p.His64Asn)	LAMC3 (H64N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1596507	NM_006059.4(LAMC3):c.201C>T (p.Ala67=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1422646	NM_006059.4(LAMC3):c.206G>T (p.Gly69Val)	LAMC3 (G69V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1399448	NM_006059.4(LAMC3):c.206G>A (p.Gly69Asp)	LAMC3 (G69D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1565687	NM_006059.4(LAMC3):c.207C>G (p.Gly69=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1444306	NM_006059.4(LAMC3):c.207C>T (p.Gly69=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1370465	NM_006059.4(LAMC3):c.208G>T (p.Ala70Ser)	LAMC3 (A70S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2892706	NM_006059.4(LAMC3):c.213G>A (p.Gly71=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1981544	NM_006059.4(LAMC3):c.219T>C (p.His73=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 129455	NM_006059.4(LAMC3):c.219T>G (p.His73Gln)	LAMC3 (H73Q)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1359127	NM_006059.4(LAMC3):c.223C>T (p.Gln75Ter)	LAMC3 (Q75*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1955545	NM_006059.4(LAMC3):c.226C>A (p.Arg76Ser)	LAMC3 (R76S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1326386	NM_006059.4(LAMC3):c.231C>G (p.Cys77Trp)	LAMC3 (C77W)	Single nucleotide variant (missense variant)	LAMC3-related condition +1 more	GUncertain significance
Select item 376996	NM_006059.4(LAMC3):c.236C>T (p.Ala79Val)	LAMC3 (A79V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1468426	NM_006059.4(LAMC3):c.238G>A (p.Ala80Thr)	LAMC3 (A80T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2788210	NM_006059.4(LAMC3):c.247del (p.Gln83fs)	LAMC3 (Q83fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2534229	NM_006059.4(LAMC3):c.247C>G (p.Gln83Glu)	LAMC3 (Q83E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2108967	NM_006059.4(LAMC3):c.256C>G (p.His86Asp)	LAMC3 (H86D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1476719	NM_006059.4(LAMC3):c.262G>A (p.Ala88Thr)	LAMC3 (A88T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976838	NM_006059.4(LAMC3):c.264C>T (p.Ala88=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1422013	NM_006059.4(LAMC3):c.265T>G (p.Ser89Ala)	LAMC3 (S89A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1354553	NM_006059.4(LAMC3):c.271C>G (p.Leu91Val)	LAMC3 (L91V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1954021	NM_006059.4(LAMC3):c.275C>T (p.Thr92Ile)	LAMC3 (T92I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2659621	NM_006059.4(LAMC3):c.276C>T (p.Thr92=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 279830	NM_006059.4(LAMC3):c.290A>G (p.Gln97Arg)	LAMC3 (Q97R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2534230	NM_006059.4(LAMC3):c.297G>C (p.Glu99Asp)	LAMC3 (E99D)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1666949	NM_006059.4(LAMC3):c.297G>A (p.Glu99=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2699197	NM_006059.4(LAMC3):c.301A>T (p.Thr101Ser)	LAMC3 (T101S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1908360	NM_006059.4(LAMC3):c.312G>A (p.Gln104=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1451732	NM_006059.4(LAMC3):c.317dup (p.Ser107fs)	LAMC3 (S107fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2171537	NM_006059.4(LAMC3):c.317C>A (p.Pro106Gln)	LAMC3 (P106Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1905596	NM_006059.4(LAMC3):c.317C>G (p.Pro106Arg)	LAMC3 (P106R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1602884	NM_006059.4(LAMC3):c.318G>T (p.Pro106=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1408839	NM_006059.4(LAMC3):c.325G>C (p.Ala109Pro)	LAMC3 (A109P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1942322	NM_006059.4(LAMC3):c.326C>T (p.Ala109Val)	LAMC3 (A109V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2898472	NM_006059.4(LAMC3):c.330C>T (p.Phe110=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1528662	NM_006059.4(LAMC3):c.330C>A (p.Phe110Leu)	LAMC3 (F110L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1376853	NM_006059.4(LAMC3):c.332dup (p.Val112fs)	LAMC3 (V112fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic

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