ClinVar for Gene (Select 3918) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370436	NM_005562.3(LAMC2):c.1882C>T (p.Gln628Ter)	LAMC2 (Q628*)	Single nucleotide variant (nonsense)	Epidermolysis bullosa, junctional 3A, intermediate	GLikely pathogenic
Select item 3370435	NM_005562.3(LAMC2):c.1857+1G>A	LAMC2	Single nucleotide variant (splice donor variant)	Epidermolysis bullosa, junctional 3A, intermediate	GLikely pathogenic
Select item 3363824	NM_005562.3(LAMC2):c.185G>A (p.Gly62Asp)	LAMC2 (G62D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339705	NM_005562.3(LAMC2):c.2456+6T>G	LAMC2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3336136	NM_005562.3(LAMC2):c.2754+3_2754+4del	LAMC2	Deletion (splice donor variant)	not specified	GUncertain significance
Select item 3290063	NM_005562.3(LAMC2):c.2649C>A (p.Ser883Arg)	LAMC2 (S883R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290062	NM_005562.3(LAMC2):c.3566C>G (p.Ala1189Gly)	LAMC2 (A1189G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290061	NM_005562.3(LAMC2):c.2416G>A (p.Gly806Ser)	LAMC2 (G806S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290059	NM_005562.3(LAMC2):c.1658G>A (p.Cys553Tyr)	LAMC2 (C553Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290058	NM_005562.3(LAMC2):c.1078A>G (p.Ile360Val)	LAMC2 (I360V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290057	NM_005562.3(LAMC2):c.1010G>A (p.Arg337Gln)	LAMC2 (R337Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290056	NM_005562.3(LAMC2):c.820C>T (p.Arg274Cys)	LAMC2 (R274C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290055	NM_005562.3(LAMC2):c.1757G>A (p.Arg586Gln)	LAMC2 (R586Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290054	NM_005562.3(LAMC2):c.3310G>T (p.Gly1104Cys)	LAMC2 (G1104C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3247970	NC_000001.10:g.(?_183155488)_(183177224_?)del	LAMC2	Deletion	not provided	GPathogenic
Select item 3247901	NC_000001.10:g.(?_179520308)_(183559464_?)del	ACBD6, AXDND1 +29 more	Deletion	not provided	GPathogenic
Select item 3242201	NM_005562.3(LAMC2):c.3438A>C (p.Glu1146Asp)	LAMC2 (E1146D)	Single nucleotide variant (missense variant)	Epidermolysis bullosa, junctional 3B, severe	GUncertain significance
Select item 3239676	NM_005562.3(LAMC2):c.1468+1G>A	LAMC2	Single nucleotide variant (splice donor variant)	Epidermolysis bullosa, junctional 3B, severe	GLikely pathogenic
Select item 3117715	NM_005562.3(LAMC2):c.910G>A (p.Gly304Ser)	LAMC2 (G304S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117714	NM_005562.3(LAMC2):c.803G>C (p.Ser268Thr)	LAMC2 (S268T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117712	NM_005562.3(LAMC2):c.460C>T (p.Arg154Cys)	LAMC2 (R154C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117711	NM_005562.3(LAMC2):c.377C>T (p.Ala126Val)	LAMC2 (A126V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117710	NM_005562.3(LAMC2):c.3532G>A (p.Asp1178Asn)	LAMC2 (D1178N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117709	NM_005562.3(LAMC2):c.3169G>A (p.Glu1057Lys)	LAMC2 (E1057K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117708	NM_005562.3(LAMC2):c.2633C>T (p.Ala878Val)	LAMC2 (A878V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117707	NM_005562.3(LAMC2):c.2447T>C (p.Leu816Pro)	LAMC2 (L816P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117706	NM_005562.3(LAMC2):c.19G>A (p.Gly7Ser)	LAMC2, LOC126805948 (G7S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3117704	NM_005562.3(LAMC2):c.1565A>G (p.Asn522Ser)	LAMC2 (N522S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117703	NM_005562.3(LAMC2):c.1378A>G (p.Lys460Glu)	LAMC2 (K460E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117702	NM_005562.3(LAMC2):c.1363G>A (p.Asp455Asn)	LAMC2 (D455N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117701	NM_005562.3(LAMC2):c.1354G>A (p.Asp452Asn)	LAMC2 (D452N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117700	NM_005562.3(LAMC2):c.1259G>A (p.Gly420Glu)	LAMC2 (G420E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3069199	NC_000001.10:g.(183205740_183206486)_(183207557_183208498)del	LAMC2	Deletion	Epidermolysis bullosa, junctional 3B, severe	GPathogenic
Select item 3065397	NM_005562.3(LAMC2):c.3452_3468del (p.Gln1151fs)	LAMC2 (Q1151fs)	Deletion (frameshift variant)	Epidermolysis bullosa, junctional 3B, severe	GLikely pathogenic
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 3062944	GRCh37/hg19 1q25.3(chr1:183173518-183221795)x3	LAMC2, NMNAT2	Copy number gain	not specified	GUncertain significance
Select item 3035407	NM_005562.3(LAMC2):c.1796G>T (p.Gly599Val)	LAMC2 (G599V)	Single nucleotide variant (missense variant)	LAMC2-related disorder	GLikely benign
Select item 3023068	NM_005562.3(LAMC2):c.2602-19G>A	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022372	NM_005562.3(LAMC2):c.1011A>C (p.Arg337=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022139	NM_005562.3(LAMC2):c.763+15A>G	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021418	NM_005562.3(LAMC2):c.1449C>T (p.Asn483=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021062	NM_005562.3(LAMC2):c.1468+13G>T	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020259	NM_005562.3(LAMC2):c.1285+16C>A	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019561	NM_005562.3(LAMC2):c.2220+16G>C	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017167	NM_005562.3(LAMC2):c.953+16A>G	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015158	NM_005562.3(LAMC2):c.269-20C>T	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011934	NM_005562.3(LAMC2):c.764-13C>T	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010620	NM_005562.3(LAMC2):c.3255T>C (p.Asp1085=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010613	NM_005562.3(LAMC2):c.30C>G (p.Leu10=)	LAMC2, LOC126805948	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010308	NM_005562.3(LAMC2):c.456G>C (p.Ala152=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009220	NM_005562.3(LAMC2):c.1067-12T>C	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009087	NM_005562.3(LAMC2):c.2601+1G>C	LAMC2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3006696	NM_005562.3(LAMC2):c.3328+16A>G	LAMC2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3006568	NM_005562.3(LAMC2):c.2301-20T>C	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004665	NM_005562.3(LAMC2):c.813T>C (p.Phe271=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003012	NM_005562.3(LAMC2):c.1715-8_1715-7del	LAMC2	Deletion (intron variant)	not provided	GLikely benign
Select item 3002213	NM_005562.3(LAMC2):c.1320T>C (p.Ile440=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999611	NM_005562.3(LAMC2):c.2865C>T (p.Leu955=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999046	NM_005562.3(LAMC2):c.1468+17G>A	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998333	NM_005562.3(LAMC2):c.1647C>T (p.Tyr549=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996402	NM_005562.3(LAMC2):c.2601+20G>A	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995262	NM_005562.3(LAMC2):c.1290T>C (p.Asp430=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993041	NM_005562.3(LAMC2):c.2754+18C>T	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991280	NM_005562.3(LAMC2):c.504-18T>C	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990307	NM_005562.3(LAMC2):c.2456+14G>C	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990145	NM_005562.3(LAMC2):c.384C>T (p.Cys128=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989909	NM_005562.3(LAMC2):c.1878G>A (p.Gln626=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988171	NM_005562.3(LAMC2):c.573G>C (p.Gly191=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988115	NM_005562.3(LAMC2):c.640+13A>G	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987694	NM_005562.3(LAMC2):c.1468+15C>G	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987370	NM_005562.3(LAMC2):c.2175G>A (p.Gln725=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985001	NM_005562.3(LAMC2):c.2709A>G (p.Lys903=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984638	NM_005562.3(LAMC2):c.2931C>A (p.Ser977=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984609	NM_005562.3(LAMC2):c.1286-19A>G	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984511	NM_005562.3(LAMC2):c.2601+16C>A	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979176	NM_005562.3(LAMC2):c.1286-11C>T	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979064	NM_005562.3(LAMC2):c.764-11_764-10del	LAMC2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2978660	NM_005562.3(LAMC2):c.2870-16C>A	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976817	NM_005562.3(LAMC2):c.953+15C>T	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975036	NM_005562.3(LAMC2):c.1908G>A (p.Lys636=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973913	NM_005562.3(LAMC2):c.1818A>G (p.Ala606=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973262	NM_005562.3(LAMC2):c.1066+17A>G	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972269	NM_005562.3(LAMC2):c.3070-20G>C	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970724	NM_005562.3(LAMC2):c.618_619del (p.Lys206fs)	LAMC2 (K206fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2969649	NM_005562.3(LAMC2):c.2208del (p.Leu737fs)	LAMC2 (L737fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2967721	NM_005562.3(LAMC2):c.1066+12C>G	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967159	NM_005562.3(LAMC2):c.1286-6C>A	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963220	NM_005562.3(LAMC2):c.2869+18C>T	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962267	NM_005562.3(LAMC2):c.1512C>T (p.Pro504=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962201	NM_005562.3(LAMC2):c.2870-17T>C	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956997	NM_005562.3(LAMC2):c.504-17C>A	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2920361	NM_005562.3(LAMC2):c.80-18T>C	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2916851	NM_005562.3(LAMC2):c.1206A>G (p.Arg402=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2915582	NM_005562.3(LAMC2):c.2456+19T>G	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2914959	NM_005562.3(LAMC2):c.2221-19G>T	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2914684	NM_005562.3(LAMC2):c.80-16T>C	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2913867	NM_005562.3(LAMC2):c.3069+13C>T	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2912861	NM_005562.3(LAMC2):c.3069+14G>A	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2912507	NM_005562.3(LAMC2):c.1066+13G>A	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2911249	NM_005562.3(LAMC2):c.1756C>T (p.Arg586Ter)	LAMC2 (R586*)	Single nucleotide variant (nonsense)	not provided	GPathogenic

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