"Eurofins Ntd Llc (ga)"[submitter] AND "TMPPE"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 92913	NM_000404.4(GLB1):c.75+1G>C	GLB1, LOC129936434 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	GM1 gangliosidosis +1 more	GConflicting classifications of pathogenicity
Select item 92911	NM_000404.4(GLB1):c.51dup (p.Leu18fs)	GLB1, LOC129936434 +1 more (L18fs)	Duplication (frameshift variant +1 more)	GM1 gangliosidosis +2 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)	Mucopolysaccharidosis, MPS-IV-B +6 more	GBenign
Select item 193093	NM_000404.4(GLB1):c.1A>C (p.Met1Leu)	TMPPE, GLB1 +1 more (M1L)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely pathogenic
Select item 344799	NM_001039770.3(TMPPE):c.-512C>G	GLB1, LOC129936434 +1 more	Single nucleotide variant (5 prime UTR variant)	GM1 gangliosidosis +2 more	GBenign

ClinVar