C0268374[trait identifier] AND "Counsyl"[submitter] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 370953	NM_005562.3(LAMC2):c.3385C>T (p.Arg1129Ter)	LAMC2 (R1129*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GPathogenic/Likely pathogenic
Select item 550265	NM_000228.3(LAMB3):c.2962C>T (p.Arg988Trp)	LAMB3 (R988W)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 372403	NM_000228.3(LAMB3):c.2842del (p.Val948fs)	LAMB3 (V948fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa, non-Herlitz type +3 more	GPathogenic
Select item 188764	NM_000228.3(LAMB3):c.1705C>T (p.Arg569Ter)	LAMB3 (R569*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa, non-Herlitz type +2 more	GPathogenic/Likely pathogenic
Select item 189004	NM_000228.3(LAMB3):c.1365_1366del (p.Asn456fs)	LAMB3 (N456fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa, non-Herlitz type +2 more	GPathogenic/Likely pathogenic
Select item 551396	NM_000228.3(LAMB3):c.1288+1G>T	LAMB3	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 371216	NM_000228.3(LAMB3):c.1117C>T (p.Gln373Ter)	LAMB3 (Q373*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa, non-Herlitz type +3 more	GPathogenic/Likely pathogenic
Select item 14549	NM_000228.3(LAMB3):c.628+42G>A	LAMB3	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely benign
Select item 14550	NM_000228.3(LAMB3):c.596G>C (p.Gly199Ala)	LAMB3 (G199A)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 188937	NM_000228.3(LAMB3):c.463dup (p.Ser155fs)	LAMB3 (S155fs)	Duplication (frameshift variant)	Amelogenesis imperfecta type 1A +3 more	GPathogenic/Likely pathogenic
Select item 552889	NM_000213.5(ITGB4):c.5218+2T>C	GALK1, ITGB4	Single nucleotide variant (splice donor variant +1 more)	Junctional epidermolysis bullosa with pyloric atresia +5 more	GConflicting classifications of pathogenicity
Select item 449049	NM_198129.4(LAMA3):c.8941C>T (p.Gln2981Ter)	LAMA3 (Q1372* +3 more)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz +3 more	GPathogenic