Related gene-specific medical variations for Gene (Select 3918) - ClinVar

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Items: 51

	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 3247970	NC_000001.10:g.(?_183155488)_(183177224_?)del	LAMC2	Deletion	not provided	GPathogenic
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 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 3065397	NM_005562.3(LAMC2):c.3452_3468del (p.Gln1151fs)	LAMC2 (Q1151fs)	Deletion (frameshift variant)	Epidermolysis bullosa, junctional 3B, severe	GLikely pathogenic
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 2893260	NM_005562.3(LAMC2):c.79+15A>G	LAMC2, LOC126805948	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2855930	NM_005562.3(LAMC2):c.21C>G (p.Gly7=)	LAMC2, LOC126805948	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2759595	NM_005562.3(LAMC2):c.42C>G (p.Leu14=)	LAMC2, LOC126805948	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617378	NM_005562.3(LAMC2):c.74G>A (p.Arg25Lys)	LAMC2, LOC126805948 (R25K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2441100	NM_005562.3(LAMC2):c.14G>A (p.Trp5Ter)	LAMC2, LOC126805948 (W5*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2433394	NM_005562.3(LAMC2):c.614A>G (p.His205Arg)	LAMC2 (H205R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433393	NM_005562.3(LAMC2):c.2921_2923del (p.Lys974del)	LAMC2 (K974del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2272815	NM_005562.3(LAMC2):c.58C>T (p.Arg20Trp)	LAMC2, LOC126805948 (R20W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2165850	NM_005562.3(LAMC2):c.39G>T (p.Ser13=)	LAMC2, LOC126805948	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2158221	NM_005562.3(LAMC2):c.36C>T (p.Phe12=)	LAMC2, LOC126805948	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2083302	NM_005562.3(LAMC2):c.79+10C>T	LAMC2, LOC126805948	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2081545	NM_005562.3(LAMC2):c.78A>G (p.Glu26=)	LAMC2, LOC126805948	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2052501	NM_005562.3(LAMC2):c.79+7C>A	LAMC2, LOC126805948	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2041020	NM_005562.3(LAMC2):c.9G>C (p.Ala3=)	LAMC2, LOC126805948	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2034405	NM_005562.3(LAMC2):c.66C>T (p.Thr22=)	LAMC2, LOC126805948	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1954042	NM_005562.3(LAMC2):c.6T>C (p.Pro2=)	LAMC2, LOC126805948	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1672456	NM_005562.3(LAMC2):c.79+8G>T	LAMC2, LOC126805948	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1660580	NM_005562.3(LAMC2):c.79+7C>G	LAMC2, LOC126805948	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1654932	NM_005562.3(LAMC2):c.60G>A (p.Arg20=)	LAMC2, LOC126805948	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1644901	NM_005562.3(LAMC2):c.75G>A (p.Arg25=)	LAMC2, LOC126805948	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1253775	NM_005562.3(LAMC2):c.79+151C>A	LAMC2, LOC126805948	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250223	NM_005562.3(LAMC2):c.79+134C>A	LAMC2, LOC126805948	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249203	NM_005562.3(LAMC2):c.79+212A>C	LAMC2, LOC126805948	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178172	NM_005562.3(LAMC2):c.79+150del	LAMC2, LOC126805948	Deletion (intron variant)	not provided	GBenign
Select item 1144225	NM_005562.3(LAMC2):c.30C>T (p.Leu10=)	LOC126805948, LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1132016	NM_005562.3(LAMC2):c.79+7C>T	LAMC2, LOC126805948	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1128404	NM_005562.3(LAMC2):c.51C>T (p.Pro17=)	LAMC2, LOC126805948	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1103569	NM_005562.3(LAMC2):c.39G>C (p.Ser13=)	LAMC2, LOC126805948	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1103213	NM_005562.3(LAMC2):c.21C>T (p.Gly7=)	LAMC2, LOC126805948	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 876940	NM_005562.3(LAMC2):c.-79G>A	LAMC2, LOC126805948	Single nucleotide variant (5 prime UTR variant)	Junctional epidermolysis bullosa	GUncertain significance
Select item 874155	NM_005562.3(LAMC2):c.48G>T (p.Leu16=)	LAMC2, LOC126805948	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 793338	NM_005562.3(LAMC2):c.48G>C (p.Leu16=)	LAMC2, LOC126805948	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 766341	NM_005562.3(LAMC2):c.72G>A (p.Arg24=)	LAMC2, LOC126805948	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 761252	NM_005562.3(LAMC2):c.9G>T (p.Ala3=)	LAMC2, LOC126805948	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 591129	NM_005562.3(LAMC2):c.2420_2421delinsAT (p.Ser807Asn)	LAMC2 (S807N)	Indel (missense variant)	not provided	GUncertain significance
Select item 550357	NM_005562.3(LAMC2):c.3G>T (p.Met1Ile)	LOC126805948, LAMC2 (M1I)	Single nucleotide variant (missense variant +1 more)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 488888	NM_005562.3(LAMC2):c.2T>C (p.Met1Thr)	LAMC2, LOC126805948 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 293985	NM_005562.3(LAMC2):c.69C>T (p.Ser23=)	LOC126805948, LAMC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 293984	NM_005562.3(LAMC2):c.1A>G (p.Met1Val)	LAMC2, LOC126805948 (M1V)	Single nucleotide variant (missense variant +1 more)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GConflicting classifications of pathogenicity
Select item 293983	NM_005562.3(LAMC2):c.-6C>A	LAMC2, LOC126805948	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GBenign
Select item 293982	NM_005562.3(LAMC2):c.-15C>T	LAMC2, LOC126805948	Single nucleotide variant (5 prime UTR variant)	Junctional epidermolysis bullosa +1 more	GUncertain significance
Select item 293981	NM_005562.3(LAMC2):c.-38C>G	LAMC2, LOC126805948	Single nucleotide variant (5 prime UTR variant)	Junctional epidermolysis bullosa +1 more	GBenign
Select item 293980	NM_005562.3(LAMC2):c.-39C>T	LAMC2, LOC126805948	Single nucleotide variant (5 prime UTR variant)	Junctional epidermolysis bullosa	GUncertain significance
Select item 293979	NM_005562.3(LAMC2):c.-89A>G	LAMC2, LOC126805948	Single nucleotide variant (5 prime UTR variant)	Junctional epidermolysis bullosa +3 more	GBenign

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Items: 51