"Ambry Genetics"[submitter] AND "TMPPE"[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3327296	NM_001039770.3(TMPPE):c.1358C>G (p.Pro453Arg)	GLB1, TMPPE (P453R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362165	NM_001039770.3(TMPPE):c.1283G>A (p.Gly428Asp)	GLB1, TMPPE (G291D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179823	NM_001039770.3(TMPPE):c.1274T>A (p.Val425Asp)	GLB1, TMPPE (V425D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179821	NM_001039770.3(TMPPE):c.1083C>A (p.Asp361Glu)	GLB1, TMPPE (D361E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3327293	NM_001039770.3(TMPPE):c.1073G>A (p.Cys358Tyr)	GLB1, TMPPE (C358Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460902	NM_001039770.3(TMPPE):c.1066G>C (p.Glu356Gln)	GLB1, TMPPE (E356Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3327298	NM_001039770.3(TMPPE):c.1051C>G (p.Leu351Val)	GLB1, TMPPE (L214V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455270	NM_001039770.3(TMPPE):c.961A>G (p.Ser321Gly)	GLB1, TMPPE (S184G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2296927	NM_001039770.3(TMPPE):c.931C>T (p.Arg311Trp)	GLB1, TMPPE (R311W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522390	NM_001039770.3(TMPPE):c.845C>T (p.Thr282Met)	GLB1, TMPPE (T145M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179830	NM_001039770.3(TMPPE):c.811G>A (p.Ala271Thr)	GLB1, TMPPE (A134T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2559281	NM_001039770.3(TMPPE):c.796C>G (p.His266Asp)	GLB1, TMPPE (H129D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179829	NM_001039770.3(TMPPE):c.745G>A (p.Asp249Asn)	GLB1, TMPPE (D249N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405117	NM_001039770.3(TMPPE):c.722C>T (p.Thr241Met)	GLB1, TMPPE (T104M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335840	NM_001039770.3(TMPPE):c.701A>G (p.Asn234Ser)	GLB1, TMPPE (N97S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3327300	NM_001039770.3(TMPPE):c.628G>T (p.Val210Leu)	GLB1, TMPPE (V210L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280558	NM_001039770.3(TMPPE):c.628G>A (p.Val210Met)	GLB1, TMPPE (V73M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387828	NM_001039770.3(TMPPE):c.617A>G (p.Asn206Ser)	GLB1, TMPPE (N69S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481010	NM_001039770.3(TMPPE):c.614A>G (p.Asn205Ser)	GLB1, TMPPE (N205S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179828	NM_001039770.3(TMPPE):c.554C>T (p.Ala185Val)	GLB1, TMPPE (A185V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179827	NM_001039770.3(TMPPE):c.524T>C (p.Val175Ala)	GLB1, TMPPE (V175A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179826	NM_001039770.3(TMPPE):c.457G>A (p.Val153Met)	GLB1, TMPPE (V153M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179825	NM_001039770.3(TMPPE):c.443G>A (p.Arg148His)	GLB1, TMPPE (R148H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179824	NM_001039770.3(TMPPE):c.364C>A (p.Leu122Met)	GLB1, TMPPE (L122M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540493	NM_001039770.3(TMPPE):c.280G>A (p.Ala94Thr)	GLB1, TMPPE (A94T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470685	NM_001039770.3(TMPPE):c.241T>C (p.Cys81Arg)	GLB1, TMPPE (C81R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483218	NM_001039770.3(TMPPE):c.239C>A (p.Thr80Asn)	GLB1, TMPPE (T80N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368318	NM_001039770.3(TMPPE):c.206G>A (p.Ser69Asn)	TMPPE, GLB1 (S69N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455372	NM_001039770.3(TMPPE):c.173T>C (p.Ile58Thr)	GLB1, TMPPE (I58T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3327297	NM_001039770.3(TMPPE):c.169C>T (p.Leu57Phe)	GLB1, TMPPE (L57F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3327294	NM_001039770.3(TMPPE):c.158A>G (p.Asn53Ser)	GLB1, TMPPE (N53S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224295	NM_001039770.3(TMPPE):c.64G>A (p.Val22Met)	GLB1, TMPPE (V22M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3327299	NM_001039770.3(TMPPE):c.41C>T (p.Thr14Ile)	GLB1, TMPPE (T14I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330322	NM_001039770.3(TMPPE):c.10T>C (p.Phe4Leu)	GLB1, TMPPE (F4L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1109494	NM_000404.4(GLB1):c.61A>G (p.Thr21Ala)	GLB1, LOC129936434 +1 more (T21A)	Single nucleotide variant (missense variant +1 more)	GM1 gangliosidosis +3 more	GConflicting classifications of pathogenicity
Select item 344796	NM_000404.4(GLB1):c.4C>A (p.Pro2Thr)	LOC129936434, TMPPE +1 more (P2T)	Single nucleotide variant (missense variant +1 more)	GM1 gangliosidosis +2 more	GUncertain significance

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Items: 36