"GeneDx"[submitter] AND "PEX19"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 258820	NM_002857.4(PEX19):c.879T>C (p.Gly293=)	PEX19 (V276A)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GBenign/Likely benign
Select item 1248207	NM_002857.4(PEX19):c.594+257T>C	PEX19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257238	NM_002857.4(PEX19):c.594+155G>T	PEX19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227462	NM_002857.4(PEX19):c.594+37T>C	PEX19	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 293229	NM_002857.4(PEX19):c.433-11G>T	PEX19	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 12A (Zellweger) +1 more	GBenign/Likely benign
Select item 293233	NM_002857.4(PEX19):c.181-15A>G	PEX19	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1259643	NM_002857.4(PEX19):c.181-46T>C	PEX19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 293236	NM_002857.3(PEX19):c.-14T>G	PEX19	Single nucleotide variant (5 prime UTR variant)	Peroxisome biogenesis disorder 12A (Zellweger) +1 more	GBenign
Select item 368836	NM_002857.3(PEX19):c.-41C>T	PEX19	Single nucleotide variant	not provided +1 more	GBenign/Likely benign
Select item 1256890	NC_000001.11:g.160285213G>A	PEX19	Single nucleotide variant	not provided	GBenign
Select item 1206829	NC_000001.11:g.160285324A>G	PEX19	Single nucleotide variant	not provided	GLikely benign