"Illumina Laboratory Services, Illumina"[submitter] AND "TMPPE"[gene] - ClinVar - NCBI

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Items: 9

	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 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 344796	NM_000404.4(GLB1):c.4C>A (p.Pro2Thr)	TMPPE, LOC129936434 +1 more (P2T)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +2 more	GUncertain significance
Select item 900794	NM_001039770.3(TMPPE):c.-492C>T	TMPPE, GLB1 +1 more	Single nucleotide variant (5 prime UTR variant)	Mucopolysaccharidosis, MPS-IV-B +1 more	GUncertain significance
Select item 344797	NM_001039770.3(TMPPE):c.-500C>G	GLB1, LOC129936434 +1 more	Single nucleotide variant (5 prime UTR variant)	Mucopolysaccharidosis, MPS-IV-B +1 more	GUncertain significance
Select item 344798	NM_001039770.3(TMPPE):c.-510T>G	GLB1, LOC129936434 +1 more	Single nucleotide variant (5 prime UTR variant)	GM1 gangliosidosis +1 more	GUncertain significance
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
Select item 902457	NM_001039770.3(TMPPE):c.-523G>C	GLB1, LOC129936434 +1 more	Single nucleotide variant (5 prime UTR variant)	GM1 gangliosidosis +1 more	GConflicting classifications of pathogenicity