Related gene-specific medical variations for Gene (Select 643853) - ClinVar

Links from Gene

Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 2948082	NM_001039770.3(TMPPE):c.-381G>A	GLB1, LOC129936434 +1 more	Single nucleotide variant (intron variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 2946678	NM_001039770.3(TMPPE):c.-385C>T	TMPPE, GLB1 +1 more	Single nucleotide variant (intron variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 2944052	NM_000404.4(GLB1):c.45G>C (p.Leu15=)	GLB1, LOC129936434 +1 more	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 2940661	NM_001039770.3(TMPPE):c.-382G>A	GLB1, LOC129936434 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	GM1 gangliosidosis +1 more	GLikely benign
Select item 2940136	NM_000404.4(GLB1):c.12C>T (p.Phe4=)	GLB1, LOC129936434 +1 more	Single nucleotide variant (synonymous variant +1 more)	GM1 gangliosidosis +1 more	GLikely benign
Select item 2938204	NM_000404.4(GLB1):c.33G>C (p.Leu11=)	GLB1, LOC129936434 +1 more	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 2934776	NM_000404.4(GLB1):c.70T>C (p.Leu24=)	GLB1, LOC129936434 +1 more	Single nucleotide variant (synonymous variant +1 more)	GM1 gangliosidosis +1 more	GLikely benign
Select item 2932642	NM_000404.4(GLB1):c.6G>A (p.Pro2=)	GLB1, LOC129936434 +1 more	Single nucleotide variant (synonymous variant +1 more)	GM1 gangliosidosis +1 more	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2194800	NM_000404.4(GLB1):c.5C>T (p.Pro2Leu)	GLB1, LOC129936434 +1 more (P2L)	Single nucleotide variant (missense variant +1 more)	GM1 gangliosidosis +1 more	GUncertain significance
Select item 2185797	NM_000404.4(GLB1):c.67G>A (p.Gly23Ser)	GLB1, LOC129936434 +1 more (G23S)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +1 more	GUncertain significance
Select item 2084657	NM_000404.4(GLB1):c.68G>A (p.Gly23Asp)	GLB1, LOC129936434 +1 more (G23D)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +1 more	GUncertain significance
Select item 2037639	NM_000404.4(GLB1):c.62C>T (p.Thr21Met)	GLB1, LOC129936434 +1 more (T21M)	Single nucleotide variant (missense variant +1 more)	GM1 gangliosidosis +1 more	GUncertain significance
Select item 2021523	NM_001039770.3(TMPPE):c.-393del	GLB1, LOC129936434 +1 more	Deletion (5 prime UTR variant +1 more)	GM1 gangliosidosis +1 more	GLikely benign
Select item 2017467	NM_000404.4(GLB1):c.37C>T (p.Leu13=)	GLB1, LOC129936434 +1 more	Single nucleotide variant (synonymous variant +1 more)	GM1 gangliosidosis +1 more	GLikely benign
Select item 2000083	NM_000404.4(GLB1):c.69_75+1del	GLB1, LOC129936434 +1 more	Deletion (5 prime UTR variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +1 more	GPathogenic
Select item 1984037	NM_000404.4(GLB1):c.27C>G (p.Leu9=)	GLB1, LOC129936434 +1 more	Single nucleotide variant (synonymous variant +1 more)	GM1 gangliosidosis +1 more	GLikely benign
Select item 1895462	NM_000404.4(GLB1):c.3G>A (p.Met1Ile)	GLB1, LOC129936434 +1 more (M1I)	Single nucleotide variant (missense variant +2 more)	Infantile GM1 gangliosidosis	GLikely pathogenic
Select item 1878428	NM_001039770.3(TMPPE):c.-398_-397del	GLB1, LOC129936434 +1 more	Deletion (5 prime UTR variant +1 more)	Infantile GM1 gangliosidosis	GUncertain significance
Select item 1637447	NM_000404.4(GLB1):c.63G>A (p.Thr21=)	GLB1, LOC129936434 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	GM1 gangliosidosis +1 more	GLikely benign
Select item 1568849	NM_001039770.3(TMPPE):c.-392G>A	GLB1, LOC129936434 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	GM1 gangliosidosis +1 more	GLikely benign
Select item 1558724	NM_000404.4(GLB1):c.9G>A (p.Gly3=)	GLB1, LOC129936434 +1 more	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 1555641	NM_001039770.3(TMPPE):c.-394C>G	GLB1, LOC129936434 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	GM1 gangliosidosis +1 more	GLikely benign
Select item 1552945	NM_000404.4(GLB1):c.15G>T (p.Leu5=)	GLB1, LOC129936434 +1 more	Single nucleotide variant (synonymous variant +1 more)	GM1 gangliosidosis +1 more	GLikely benign
Select item 1500439	NM_000404.4(GLB1):c.4C>G (p.Pro2Ala)	GLB1, LOC129936434 +1 more (P2A)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +1 more	GUncertain significance
Select item 1496444	NM_000404.4(GLB1):c.40G>C (p.Val14Leu)	GLB1, LOC129936434 +1 more (V14L)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +1 more	GUncertain significance
Select item 1414552	NM_000404.4(GLB1):c.69C>A (p.Gly23=)	GLB1, LOC129936434 +1 more	Single nucleotide variant (synonymous variant +1 more)	GM1 gangliosidosis +1 more	GLikely benign
Select item 1363728	NM_000404.4(GLB1):c.20G>C (p.Arg7Pro)	GLB1, LOC129936434 +1 more (R7P)	Single nucleotide variant (missense variant +1 more)	GM1 gangliosidosis +1 more	GUncertain significance
Select item 1332869	NM_001039770.3(TMPPE):c.-397dup	TMPPE, GLB1 +1 more	Duplication (5 prime UTR variant +1 more)	Infantile GM1 gangliosidosis	GPathogenic
Select item 1191383	NM_001039770.3(TMPPE):c.-311G>T	TMPPE, GLB1 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1142155	NM_000404.4(GLB1):c.27C>T (p.Leu9=)	GLB1, LOC129936434 +1 more	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 1124539	NM_000404.4(GLB1):c.66C>T (p.Arg22=)	GLB1, LOC129936434 +1 more	Single nucleotide variant (synonymous variant +1 more)	GM1 gangliosidosis +1 more	GLikely benign
Select item 1119074	NM_000404.4(GLB1):c.31C>T (p.Leu11=)	GLB1, LOC129936434 +1 more	Single nucleotide variant (synonymous variant +1 more)	GM1 gangliosidosis +1 more	GLikely benign
Select item 1110965	NM_001039770.3(TMPPE):c.-391C>T	GLB1, LOC129936434 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	GM1 gangliosidosis +1 more	GLikely benign
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 1105356	NM_000404.4(GLB1):c.42T>C (p.Val14=)	GLB1, LOC129936434 +1 more	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 1077168	NM_000404.4(GLB1):c.75+2T>G	GLB1, LOC129936434 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Mucopolysaccharidosis, MPS-IV-B	GPathogenic
Select item 972610	NM_000404.4(GLB1):c.5C>G (p.Pro2Arg)	GLB1, LOC129936434 +1 more (P2R)	Single nucleotide variant (missense variant +1 more)	GM1 gangliosidosis +1 more	GLikely benign
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
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 795413	NM_000404.4(GLB1):c.69C>G (p.Gly23=)	GLB1, LOC129936434 +1 more	Single nucleotide variant (synonymous variant +1 more)	GM1 gangliosidosis +1 more	GLikely benign
Select item 555329	NM_000404.4(GLB1):c.65_75+1del	TMPPE, LOC129936434 +1 more	Deletion (5 prime UTR variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +5 more	GPathogenic/Likely pathogenic
Select item 427824	NM_000404.3(GLB1):c.[276G>A];[75+5G>C]			Infantile GM1 gangliosidosis	GLikely pathogenic
Select item 425289	NM_000404.4(GLB1):c.31C>G (p.Leu11Val)	GLB1, LOC129936434 +1 more (L11V)	Single nucleotide variant (missense variant +1 more)	Infantile GM1 gangliosidosis +4 more	GConflicting classifications of pathogenicity
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 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 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 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 264674	NM_001039770.3(TMPPE):c.-396G>C	GLB1, LOC129936434 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 235596	NM_001039770.3(TMPPE):c.-398A>G	GLB1, LOC129936434 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +3 more	GUncertain significance
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 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 936	NM_000404.4(GLB1):c.75+2dup	GLB1, LOC129936434 +1 more	Duplication (5 prime UTR variant +1 more)	GM1 gangliosidosis +4 more	GPathogenic

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Items: 82