LOC126805948[gene] - ClinVar

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Items: 56

	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 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	not provided +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	LAMC2, LOC126805948	Single nucleotide variant (5 prime UTR variant)	Junctional epidermolysis bullosa +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)	not provided +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=)	LOC126805948, LAMC2	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)	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 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=)	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 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 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	LAMC2, LOC126805948	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

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Items: 56