"GeneDx"[submitter] AND "PDK1-AS1"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1277655	NM_000210.4(ITGA6):c.1971-30T>G	ITGA6, PDK1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 332369	NM_000210.4(ITGA6):c.2082C>T (p.Asp694=)	ITGA6, PDK1-AS1	Single nucleotide variant (synonymous variant)	Junctional epidermolysis bullosa with pyloric atresia +1 more	GBenign
Select item 332371	NM_000210.4(ITGA6):c.2136A>T (p.Ala712=)	PDK1-AS1, ITGA6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1259016	NM_000210.4(ITGA6):c.2161-16T>C	ITGA6, PDK1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268793	NM_000210.4(ITGA6):c.2244+16A>C	ITGA6, PDK1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 332374	NM_000210.4(ITGA6):c.2296G>T (p.Asp766Tyr)	ITGA6, PDK1-AS1 (D766Y +1 more)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia +1 more	GBenign
Select item 1258072	NM_000210.4(ITGA6):c.2403-30C>T	ITGA6, PDK1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257707	NM_000210.4(ITGA6):c.2505+104G>A	ITGA6, PDK1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257560	NM_000210.4(ITGA6):c.2506-99del	ITGA6, PDK1-AS1	Deletion (intron variant)	not provided	GBenign
Select item 1271593	NM_000210.4(ITGA6):c.2779-42A>C	ITGA6, PDK1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 332379	NM_000210.4(ITGA6):c.2788G>A (p.Val930Met)	ITGA6, PDK1-AS1 (V930M +2 more)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia +1 more	GBenign
Select item 332385	NM_000210.4(ITGA6):c.2862G>C (p.Ser954=)	ITGA6, PDK1-AS1	Single nucleotide variant (synonymous variant)	Junctional epidermolysis bullosa with pyloric atresia +1 more	GBenign
Select item 1263130	NM_000210.4(ITGA6):c.2889+41C>G	ITGA6, PDK1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 332386	NM_000210.4(ITGA6):c.2989-6C>T	ITGA6, PDK1-AS1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1246171	NM_000210.4(ITGA6):c.3114+142G>C	ITGA6, PDK1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248931	NM_000210.4(ITGA6):c.3114+177C>T	ITGA6, PDK1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247902	NM_000210.4(ITGA6):c.*22+240C>T	ITGA6, PDK1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250405	NM_000210.4(ITGA6):c.23-72_23-34del	ITGA6, PDK1-AS1	Deletion (intron variant)	not provided	GBenign
Select item 1321549	NM_000210.4(ITGA6):c.*204A>T	PDK1-AS1, ITGA6	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 332392	NM_000210.4(ITGA6):c.204_205insT	ITGA6, PDK1-AS1	Insertion (3 prime UTR variant)	Junctional epidermolysis bullosa with pyloric atresia +1 more	GBenign/Likely benign
Select item 332395	NM_000210.4(ITGA6):c.*435A>G	ITGA6, PDK1-AS1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign

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Items: 21