"GeneDx"[submitter] AND "AP1S1"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	ACHE, ACTL6B +300 more	Copy number gain	See cases	GPathogenic
Select item 60281	GRCh38/hg38 7q22.1(chr7:100419914-102482826)x1	ACHE, ACTL6B +207 more	Copy number loss	See cases	GPathogenic
Select item 1262430	NC_000007.14:g.101154158dup	AP1S1	Duplication	not provided	GBenign
Select item 1266377	NC_000007.14:g.101154351G>A	AP1S1, LOC113687177	Single nucleotide variant	not provided	GBenign
Select item 1243303	NM_001283.5(AP1S1):c.4-302A>G	AP1S1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192403	NM_001283.5(AP1S1):c.182+78T>C	AP1S1, LOC126860125	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1267114	NM_001283.5(AP1S1):c.182+252C>T	AP1S1, LOC126860125	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273930	NM_001283.5(AP1S1):c.183-23G>A	AP1S1, LOC126860125	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 620377	NM_001283.5(AP1S1):c.186T>G (p.Tyr62Ter)	LOC126860125, AP1S1 (Y62*)	Single nucleotide variant (nonsense)	MEDNIK syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1272620	NM_001283.5(AP1S1):c.292-200T>C	AP1S1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250794	NM_001283.5(AP1S1):c.292-24C>T	AP1S1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 503720	NM_001283.5(AP1S1):c.364dup (p.Asp122fs)	AP1S1 (D122fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 804404	NM_001283.5(AP1S1):c.364del (p.Asp122fs)	AP1S1 (D122fs)	Deletion (frameshift variant)	MEDNIK syndrome +1 more	GLikely pathogenic
Select item 1291905	NM_001283.5(AP1S1):c.429+309A>G	AP1S1, MIR4653	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1246618	NM_001283.5(AP1S1):c.430-310C>A	AP1S1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266693	NM_001283.5(AP1S1):c.430-186C>T	AP1S1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237009	NM_001283.5(AP1S1):c.430-111C>T	AP1S1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225622	NM_001283.5(AP1S1):c.430-90C>T	AP1S1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266523	NM_001283.5(AP1S1):c.430-71A>G	AP1S1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235159	NM_001283.5(AP1S1):c.*293C>T	AP1S1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign

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Items: 20