C5676875[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1028614	NM_000210.4(ITGA6):c.835G>C (p.Gly279Arg)	ITGA6 (G160R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 894197	NM_000210.4(ITGA6):c.1517C>T (p.Thr506Ile)	ITGA6 (T387I +1 more)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia +3 more	GUncertain significance
Select item 1028613	NM_000210.4(ITGA6):c.2938_2939insT (p.Asp980fs)	ITGA6, PDK1-AS1 (D861fs +2 more)	Insertion (frameshift variant)	Junctional epidermolysis bullosa with pyloric atresia	GLikely pathogenic
Select item 1029850	NM_201384.3(PLEC):c.4889A>G (p.Glu1630Gly)	PLEC (E1634G +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5C, with pyloric atresia +5 more	GUncertain significance
Select item 471590	NM_201384.3(PLEC):c.4499G>A (p.Arg1500Gln)	PLEC (R1478Q +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +6 more	GUncertain significance
Select item 2582375	NM_000213.5(ITGB4):c.179G>A (p.Arg60His)	ITGB4 (R60H)	Single nucleotide variant (missense variant)	Epidermolysis bullosa, junctional 5A, intermediate +1 more	GUncertain significance
Select item 2051287	NM_000213.5(ITGB4):c.4558G>A (p.Asp1520Asn)	ITGB4, GALK1 (D1450N +2 more)	Single nucleotide variant (missense variant +1 more)	Junctional epidermolysis bullosa with pyloric atresia +3 more	GConflicting classifications of pathogenicity
Select item 2582331	NM_000213.5(ITGB4):c.5297C>T (p.Thr1766Ile)	GALK1, ITGB4 (T1696I +2 more)	Single nucleotide variant (missense variant +1 more)	Junctional epidermolysis bullosa with pyloric atresia +1 more	GUncertain significance