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

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2362165	NM_001039770.3(TMPPE):c.1283G>A (p.Gly428Asp)	GLB1, TMPPE (G291D +1 more)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2559281	NM_001039770.3(TMPPE):c.796C>G (p.His266Asp)	GLB1, TMPPE (H129D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2405117	NM_001039770.3(TMPPE):c.722C>T (p.Thr241Met)	TMPPE, GLB1 (T104M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2387828	NM_001039770.3(TMPPE):c.617A>G (p.Asn206Ser)	TMPPE, GLB1 (N69S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2540493	NM_001039770.3(TMPPE):c.280G>A (p.Ala94Thr)	GLB1, TMPPE (A94T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2470685	NM_001039770.3(TMPPE):c.241T>C (p.Cys81Arg)	GLB1, TMPPE (C81R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2483218	NM_001039770.3(TMPPE):c.239C>A (p.Thr80Asn)	GLB1, TMPPE (T80N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2368318	NM_001039770.3(TMPPE):c.206G>A (p.Ser69Asn)	GLB1, TMPPE (S69N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2455372	NM_001039770.3(TMPPE):c.173T>C (p.Ile58Thr)	GLB1, TMPPE (I58T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2224295	NM_001039770.3(TMPPE):c.64G>A (p.Val22Met)	TMPPE, GLB1 (V22M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2330322	NM_001039770.3(TMPPE):c.10T>C (p.Phe4Leu)	TMPPE, GLB1 (F4L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 344796	NM_000404.4(GLB1):c.4C>A (p.Pro2Thr)	GLB1, LOC129936434 +1 more (P2T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance

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Items: 20