"PreventionGenetics, part of Exact Sciences"[submitter] AND "ITGA6"[ge - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 713777	NM_000210.4(ITGA6):c.148A>G (p.Met50Val)	ITGA6 (M50V)	Single nucleotide variant (missense variant +1 more)	ITGA6-related disorder +2 more	GLikely benign
Select item 745028	NM_000210.4(ITGA6):c.201G>A (p.Pro67=)	ITGA6, ITGA6-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 781823	NM_000210.4(ITGA6):c.258C>T (p.Cys86=)	ITGA6, ITGA6-AS1	Single nucleotide variant (synonymous variant +1 more)	Epidermolysis bullosa, junctional 6, with pyloric atresia +2 more	GLikely benign
Select item 2724830	NM_000210.4(ITGA6):c.267C>T (p.Thr89=)	ITGA6, ITGA6-AS1	Single nucleotide variant (synonymous variant +1 more)	ITGA6-related disorder +1 more	GLikely benign
Select item 2711765	NM_000210.4(ITGA6):c.495C>T (p.Asp165=)	ITGA6	Single nucleotide variant (synonymous variant)	ITGA6-related disorder +1 more	GLikely benign
Select item 3048327	NM_001394928.1(ITGA6):c.844C>A (p.Arg282=)	ITGA6	Single nucleotide variant (synonymous variant +1 more)	ITGA6-related disorder	GLikely benign
Select item 3059881	NM_001394928.1(ITGA6):c.892G>A (p.Gly298Ser)	ITGA6 (G140S +1 more)	Single nucleotide variant (missense variant +1 more)	ITGA6-related disorder	GBenign
Select item 2723582	NM_000210.4(ITGA6):c.1452C>T (p.Arg484=)	ITGA6	Single nucleotide variant (synonymous variant)	ITGA6-related disorder +1 more	GLikely benign
Select item 2887545	NM_000210.4(ITGA6):c.1635G>A (p.Glu545=)	ITGA6, PDK1-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3003680	NM_000210.4(ITGA6):c.1932C>T (p.Thr644=)	ITGA6, PDK1-AS1	Single nucleotide variant (synonymous variant)	ITGA6-related disorder +1 more	GLikely benign
Select item 2896405	NM_000210.4(ITGA6):c.2245-3dup	ITGA6, PDK1-AS1	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 332374	NM_000210.4(ITGA6):c.2296G>T (p.Asp766Tyr)	ITGA6, PDK1-AS1 (D766Y +1 more)	Single nucleotide variant (missense variant)	ITGA6-related disorder +2 more	GBenign
Select item 3033432	NM_000210.4(ITGA6):c.2679+6T>G	ITGA6, PDK1-AS1	Single nucleotide variant (intron variant)	ITGA6-related disorder	GLikely benign