3918[geneid] - 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	LOC129932075, LOC129932076 +560 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	ANGPTL1, APOBEC4 +455 more	Copy number loss	See cases	GPathogenic
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129388668, LOC129388669 +477 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 293973	NM_005562.2(LAMC2):c.-277G>A	LAMC2, LOC126805948	Single nucleotide variant	Junctional epidermolysis bullosa	GUncertain significance
Select item 293974	NM_005562.2(LAMC2):c.-262T>C	LAMC2, LOC126805948	Single nucleotide variant	Junctional epidermolysis bullosa	GUncertain significance
Select item 293975	NM_005562.2(LAMC2):c.-260C>A	LAMC2, LOC126805948	Single nucleotide variant	Junctional epidermolysis bullosa +1 more	GBenign
Select item 293976	NM_005562.2(LAMC2):c.-256G>C	LAMC2, LOC126805948	Single nucleotide variant	Junctional epidermolysis bullosa	GUncertain significance
Select item 293977	NM_005562.2(LAMC2):c.-183G>A	LAMC2, LOC126805948	Single nucleotide variant	not provided +1 more	GBenign
Select item 293978	NM_005562.2(LAMC2):c.-140T>G	LAMC2, LOC126805948	Single nucleotide variant	Junctional epidermolysis bullosa	GUncertain significance
Select item 293979	NM_005562.3(LAMC2):c.-89A>G	LOC126805948, LAMC2	Single nucleotide variant (5 prime UTR variant)	Junctional epidermolysis bullosa gravis of Herlitz +3 more	GBenign
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 293980	NM_005562.3(LAMC2):c.-39C>T	LAMC2, LOC126805948	Single nucleotide variant (5 prime UTR variant)	Junctional epidermolysis bullosa	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 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 293983	NM_005562.3(LAMC2):c.-6C>A	LAMC2, LOC126805948	Single nucleotide variant (5 prime UTR variant)	Junctional epidermolysis bullosa +3 more	GBenign
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 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 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 1954042	NM_005562.3(LAMC2):c.6T>C (p.Pro2=)	LAMC2, LOC126805948	Single nucleotide variant (synonymous 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 761252	NM_005562.3(LAMC2):c.9G>T (p.Ala3=)	LAMC2, LOC126805948	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2855930	NM_005562.3(LAMC2):c.21C>G (p.Gly7=)	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 3010613	NM_005562.3(LAMC2):c.30C>G (p.Leu10=)	LAMC2, LOC126805948	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1144225	NM_005562.3(LAMC2):c.30C>T (p.Leu10=)	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 2165850	NM_005562.3(LAMC2):c.39G>T (p.Ser13=)	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 2759595	NM_005562.3(LAMC2):c.42C>G (p.Leu14=)	LAMC2, LOC126805948	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 874155	NM_005562.3(LAMC2):c.48G>T (p.Leu16=)	LAMC2, LOC126805948	Single nucleotide variant (synonymous variant)	Junctional epidermolysis bullosa +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 1128404	NM_005562.3(LAMC2):c.51C>T (p.Pro17=)	LAMC2, LOC126805948	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1654932	NM_005562.3(LAMC2):c.60G>A (p.Arg20=)	LOC126805948, LAMC2	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 293985	NM_005562.3(LAMC2):c.69C>T (p.Ser23=)	LAMC2, LOC126805948	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 1644901	NM_005562.3(LAMC2):c.75G>A (p.Arg25=)	LAMC2, LOC126805948	Single nucleotide variant (synonymous 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 1660580	NM_005562.3(LAMC2):c.79+7C>G	LAMC2, LOC126805948	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1132016	NM_005562.3(LAMC2):c.79+7C>T	LOC126805948, LAMC2	Single nucleotide variant (intron 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 2083302	NM_005562.3(LAMC2):c.79+10C>T	LAMC2, LOC126805948	Single nucleotide variant (intron 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 1250223	NM_005562.3(LAMC2):c.79+134C>A	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 1253775	NM_005562.3(LAMC2):c.79+151C>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 1246259	NM_005562.3(LAMC2):c.80-33_80-31dup	LAMC2	Duplication (intron variant)	not provided	GBenign
Select item 1229395	NM_005562.3(LAMC2):c.80-32_80-31dup	LAMC2	Duplication (intron variant)	not provided	GBenign
Select item 1224645	NM_005562.3(LAMC2):c.80-31dup	LAMC2	Duplication (intron variant)	not provided	GBenign
Select item 1283530	NM_005562.3(LAMC2):c.80-31del	LAMC2	Deletion (intron variant)	not provided	GBenign
Select item 2920361	NM_005562.3(LAMC2):c.80-18T>C	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 1549797	NM_005562.3(LAMC2):c.80-9C>T	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2855216	NM_005562.3(LAMC2):c.80-8C>T	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1654099	NM_005562.3(LAMC2):c.80-7T>C	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 293986	NM_005562.3(LAMC2):c.80-6C>T	LAMC2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1944421	NM_005562.3(LAMC2):c.80-5C>T	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1079691	NM_005562.3(LAMC2):c.80-4C>T	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 844928	NM_005562.3(LAMC2):c.80-2A>C	LAMC2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 371173	NM_005562.3(LAMC2):c.80-2A>G	LAMC2	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GLikely pathogenic
Select item 874156	NM_005562.3(LAMC2):c.80T>C (p.Val27Ala)	LAMC2 (V27A)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa	GUncertain significance
Select item 1092271	NM_005562.3(LAMC2):c.81C>A (p.Val27=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1111941	NM_005562.3(LAMC2):c.87T>C (p.Asp29=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2733216	NM_005562.3(LAMC2):c.92A>G (p.Asn31Ser)	LAMC2 (N31S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1084229	NM_005562.3(LAMC2):c.96G>A (p.Gly32=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2123729	NM_005562.3(LAMC2):c.114C>A (p.Ile38=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1115033	NM_005562.3(LAMC2):c.123G>A (p.Arg41=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2813752	NM_005562.3(LAMC2):c.126A>G (p.Glu42=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 370838	NM_005562.3(LAMC2):c.134_137del (p.Arg45fs)	LAMC2 (R45fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GPathogenic/Likely pathogenic
Select item 2372509	NM_005562.3(LAMC2):c.133A>G (p.Arg45Gly)	LAMC2 (R45G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1083012	NM_005562.3(LAMC2):c.135A>G (p.Arg45=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1074699	NM_005562.3(LAMC2):c.136C>T (p.Gln46Ter)	LAMC2 (Q46*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 371541	NM_005562.3(LAMC2):c.146_150dup (p.Phe51fs)	LAMC2 (F51fs)	Duplication (frameshift variant)	LAMC2-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 2693445	NM_005562.3(LAMC2):c.147T>C (p.Asn49=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2315170	NM_005562.3(LAMC2):c.169A>G (p.Asn57Asp)	LAMC2 (N57D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1673292	NM_005562.3(LAMC2):c.171T>C (p.Asn57=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1726932	NM_005562.3(LAMC2):c.176del (p.Asn59fs)	LAMC2 (N59fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 558714	NM_005562.3(LAMC2):c.180dup (p.Asp61Ter)	LAMC2 (D61*)	Duplication (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 1626887	NM_005562.3(LAMC2):c.180T>C (p.Thr60=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2584967	NM_005562.3(LAMC2):c.195C>A (p.Cys65Ter)	LAMC2 (C65*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 195246	NM_005562.3(LAMC2):c.196G>A (p.Glu66Lys)	LAMC2 (E66K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1999237	NM_005562.3(LAMC2):c.201G>A (p.Lys67=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 984224	NM_005562.3(LAMC2):c.219C>A (p.Tyr73Ter)	LAMC2 (Y73*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 1143702	NM_005562.3(LAMC2):c.222G>A (p.Arg74=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1138188	NM_005562.3(LAMC2):c.222G>T (p.Arg74=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2557375	NM_005562.3(LAMC2):c.232A>G (p.Arg78Gly)	LAMC2 (R78G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2839520	NM_005562.3(LAMC2):c.249C>T (p.Pro83=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1726223	NM_005562.3(LAMC2):c.252C>A (p.Cys84Ter)	LAMC2 (C84*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 2245728	NM_005562.3(LAMC2):c.254A>G (p.Asn85Ser)	LAMC2 (N85S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 762684	NM_005562.3(LAMC2):c.255T>C (p.Asn85=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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