"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 325149	NM_000213.5(ITGB4):c.1749C>T (p.Ile583=)	ITGB4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 325167	NM_000213.5(ITGB4):c.2730C>T (p.Ala910=)	ITGB4	Single nucleotide variant (synonymous variant)	Junctional epidermolysis bullosa with pyloric atresia +1 more	GBenign/Likely benign
Select item 325186	NM_000213.5(ITGB4):c.3861C>T (p.Asn1287=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 325188	NM_000213.5(ITGB4):c.4008C>T (p.Asp1336=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant)	Junctional epidermolysis bullosa with pyloric atresia +2 more	GBenign/Likely benign
Select item 719110	NM_000213.5(ITGB4):c.4932A>G (p.Pro1644=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa, junctional 5A, intermediate +3 more	GLikely benign
Select item 786323	NM_000213.5(ITGB4):c.5172C>T (p.Phe1724=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity

ClinVar