"Counsyl"[submitter] AND "LOC126862707"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 557106	NM_000227.6(LAMA3):c.1A>T (p.Met1Leu)	LAMA3, LOC126862707 (M1L)	Single nucleotide variant (missense variant +2 more)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 552389	NM_000227.6(LAMA3):c.2T>C (p.Met1Thr)	LAMA3, LOC126862707 (M1T)	Single nucleotide variant (missense variant +2 more)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 555642	NM_000227.6(LAMA3):c.42G>A (p.Trp14Ter)	LAMA3, LOC126862707 (W14*)	Single nucleotide variant (nonsense +1 more)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 370468	NM_000227.6(LAMA3):c.91C>T (p.Gln31Ter)	LAMA3, LOC126862707 (Q31*)	Single nucleotide variant (nonsense +1 more)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 550430	NM_000227.6(LAMA3):c.108del (p.Leu38fs)	LAMA3, LOC126862707 (L38fs)	Deletion (frameshift variant +1 more)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GPathogenic/Likely pathogenic

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