"Fulgent Genetics, Fulgent Genetics"[submitter] AND "PDK1-AS1"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 894199	NM_000210.4(ITGA6):c.1850T>C (p.Ile617Thr)	ITGA6, PDK1-AS1 (I498T +1 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa, junctional 6, with pyloric atresia +3 more	GConflicting classifications of pathogenicity
Select item 332367	NM_000210.4(ITGA6):c.1969A>G (p.Ile657Val)	ITGA6, PDK1-AS1 (I657V +1 more)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia +2 more	GUncertain significance
Select item 1589686	NM_000210.4(ITGA6):c.2161-17G>A	ITGA6, PDK1-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 332372	NM_000210.4(ITGA6):c.2245-3del	ITGA6, PDK1-AS1	Deletion (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 722316	NM_000210.4(ITGA6):c.2538C>T (p.Leu846=)	ITGA6, PDK1-AS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 745993	NM_000210.4(ITGA6):c.2679+7C>T	ITGA6, PDK1-AS1	Single nucleotide variant (intron variant)	Epidermolysis bullosa, junctional 6, with pyloric atresia +1 more	GLikely benign
Select item 332377	NM_000210.4(ITGA6):c.2704C>T (p.Arg902Trp)	ITGA6, PDK1-AS1 (R902W +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 332380	NM_000210.4(ITGA6):c.2792A>G (p.Asn931Ser)	ITGA6, PDK1-AS1 (N931S +2 more)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia +3 more	GUncertain significance
Select item 332382	NM_000210.4(ITGA6):c.2820G>A (p.Pro940=)	ITGA6, PDK1-AS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 332384	NM_000210.4(ITGA6):c.2861C>T (p.Ser954Leu)	PDK1-AS1, ITGA6 (S954L +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 332386	NM_000210.4(ITGA6):c.2989-6C>T	ITGA6, PDK1-AS1	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa with pyloric atresia +2 more	GBenign/Likely benign
Select item 332390	NM_000210.4(ITGA6):c.3222G>A (p.Ter1074=)	ITGA6, PDK1-AS1	Single nucleotide variant (synonymous variant +1 more)	Epidermolysis bullosa, junctional 6, with pyloric atresia +2 more	GBenign/Likely benign
Select item 894229	NM_000210.4(ITGA6):c.*58T>C	ITGA6, PDK1-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Epidermolysis bullosa, junctional 6, with pyloric atresia +1 more	GBenign
Select item 225394	NM_000210.4(ITGA6):c.*142dup	ITGA6, PDK1-AS1 (Q1064fs +1 more)	Duplication (3 prime UTR variant +1 more)	Junctional epidermolysis bullosa with pyloric atresia +1 more	GUncertain significance