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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57769	GRCh38/hg38 3p22.3-22.2(chr3:32322382-36775606)x1	ARPP21, ARPP21-AS1 +87 more	Copy number loss	See cases	GPathogenic
Select item 1191383	NM_000404.4(GLB1):c.75+90G>T	GLB1, LOC129936434 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 936	NM_000404.4(GLB1):c.75+2dup	GLB1, LOC129936434 +1 more	Duplication (5 prime UTR variant +1 more)	GM1 gangliosidosis +4 more	GPathogenic
Select item 92905	NM_000404.4(GLB1):c.34T>C (p.Leu12=)	GLB1, LOC129936434 +1 more	Single nucleotide variant (synonymous variant +1 more)	not specified +6 more	GBenign
Select item 92904	NM_000404.4(GLB1):c.29C>T (p.Pro10Leu)	GLB1, LOC129936434 +1 more (P10L)	Single nucleotide variant (missense variant +1 more)	Infantile GM1 gangliosidosis +6 more	GBenign
Select item 253599	GRCh37/hg19 3p24.1-22.3(chr3:29689082-34233218)x1	CCR4, CLASP2 +20 more	Copy number loss	See cases	GPathogenic

ClinVar