ClinVar for MedGen (Select 1807376) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3239675	NM_198129.4(LAMA3):c.1273+26_1273+41del	LAMA3 (L434fs)	Deletion (frameshift variant +1 more)	Epidermolysis bullosa, junctional 2A, intermediate	GPathogenic
Select item 3234987	NM_198129.4(LAMA3):c.6412del (p.Val2139fs)	LAMA3 (V2083fs +3 more)	Deletion (frameshift variant)	Epidermolysis bullosa, junctional 2A, intermediate	GLikely pathogenic
Select item 3039514	NM_198129.4(LAMA3):c.1273+51C>T	LAMA3 (R442*)	Single nucleotide variant (nonsense +1 more)	Epidermolysis bullosa, junctional 2A, intermediate	GPathogenic
Select item 2441682	NM_198129.4(LAMA3):c.6319-1G>A	LAMA3	Single nucleotide variant (splice acceptor variant)	Laryngo-onycho-cutaneous syndrome +2 more	GLikely pathogenic
Select item 1802262	NM_198129.4(LAMA3):c.5121del (p.Gln1707fs)	LAMA3 (Q1707fs +1 more)	Deletion (frameshift variant)	Laryngo-onycho-cutaneous syndrome +2 more	GPathogenic
Select item 1699950	LAMA3, IVS35, +1, G-A	LAMA3	Single nucleotide variant	Epidermolysis bullosa, junctional 2A, intermediate +1 more	GPathogenic
Select item 1699949	LAMA3, ARG1331CYS	LAMA3	Variation	Epidermolysis bullosa, junctional 2A, intermediate	GPathogenic
Select item 1050319	NM_198129.4(LAMA3):c.2332G>A (p.Gly778Arg)	LAMA3 (G778R)	Single nucleotide variant (missense variant)	Epidermolysis bullosa, junctional 2A, intermediate +3 more	GUncertain significance
Select item 1049399	NM_198129.4(LAMA3):c.4297A>G (p.Thr1433Ala)	LAMA3 (T1433A)	Single nucleotide variant (missense variant)	Epidermolysis bullosa, junctional 2A, intermediate +3 more	GUncertain significance
Select item 952726	NM_198129.4(LAMA3):c.8599C>T (p.Gln2867Ter)	LAMA3 (Q2811* +3 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 892095	NM_198129.4(LAMA3):c.6286A>G (p.Ile2096Val)	LAMA3 (I2040V +3 more)	Single nucleotide variant (missense variant)	Laryngo-onycho-cutaneous syndrome +3 more	GUncertain significance
Select item 890859	NM_198129.4(LAMA3):c.5942G>A (p.Arg1981Gln)	LAMA3 (R372Q +1 more)	Single nucleotide variant (missense variant +1 more)	Junctional epidermolysis bullosa gravis of Herlitz +4 more	GConflicting classifications of pathogenicity
Select item 890474	NM_198129.4(LAMA3):c.8075G>A (p.Arg2692His)	LAMA3 (R2692H +3 more)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa gravis of Herlitz +3 more	GUncertain significance
Select item 553414	NM_198129.4(LAMA3):c.734del (p.Phe245fs)	LAMA3 (F245fs)	Deletion (frameshift variant +2 more)	Junctional epidermolysis bullosa gravis of Herlitz +3 more	GUncertain significance
Select item 553175	NM_198129.4(LAMA3):c.856-2A>G	LAMA3	Single nucleotide variant (splice acceptor variant)	Junctional epidermolysis bullosa gravis of Herlitz +3 more	GUncertain significance
Select item 552993	NM_198129.4(LAMA3):c.5112+1G>A	LAMA3	Single nucleotide variant (splice donor variant)	Epidermolysis bullosa, junctional 2A, intermediate +2 more	GLikely pathogenic
Select item 551372	NM_198129.4(LAMA3):c.4750C>T (p.Arg1584Ter)	LAMA3 (R1584*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz +4 more	GConflicting classifications of pathogenicity
Select item 370161	NM_198129.4(LAMA3):c.7158+1G>A	LAMA3	Single nucleotide variant (splice donor variant)	not provided +4 more	GLikely pathogenic
Select item 326342	NM_198129.4(LAMA3):c.9027-14G>A	LAMA3	Single nucleotide variant (intron variant)	Laryngo-onycho-cutaneous syndrome +4 more	GConflicting classifications of pathogenicity
Select item 8793	NM_198129.4(LAMA3):c.8962C>T (p.Gln2988Ter)	LAMA3 (Q1323* +3 more)	Single nucleotide variant (nonsense)	Epidermolysis bullosa, junctional 2B, severe	GUncertain significance
Select item 8792	NM_198129.4(LAMA3):c.6808C>T (p.Arg2270Ter)	LAMA3 (R2214* +3 more)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz +4 more	GPathogenic

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Items: 21