ClinVar for Gene (Select 643853) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
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 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 2948082	NM_000404.4(GLB1):c.75+20G>A	GLB1, LOC129936434 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 2946678	NM_000404.4(GLB1):c.75+16C>T	GLB1, LOC129936434 +1 more	Single nucleotide variant (5 prime UTR 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)	GM1 gangliosidosis +1 more	GLikely benign
Select item 2940661	NM_000404.4(GLB1):c.75+19G>A	GLB1, LOC129936434 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +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)	GM1 gangliosidosis +1 more	GLikely benign
Select item 2934776	NM_000404.4(GLB1):c.70T>C (p.Leu24=)	TMPPE, GLB1 +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=)	LOC129936434, TMPPE +1 more	Single nucleotide variant (synonymous variant +1 more)	GM1 gangliosidosis +1 more	GLikely benign
Select item 2685913	GRCh37/hg19 3p22.3(chr3:32324460-33982773)x3	CCR4, CLASP2 +13 more	Copy number gain	not provided	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)	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)	GM1 gangliosidosis +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_000404.4(GLB1):c.75+8del	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)	Mucopolysaccharidosis, MPS-IV-B +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)	GM1 gangliosidosis +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_000404.4(GLB1):c.75+3_75+4del	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 (synonymous variant +1 more)	GM1 gangliosidosis +1 more	GLikely benign
Select item 1568849	NM_000404.4(GLB1):c.75+9G>A	GLB1, LOC129936434 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +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_000404.4(GLB1):c.75+7C>G	GLB1, LOC129936434 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +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)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 1527006	GRCh37/hg19 3p22.3(chr3:32699328-35286114)	CCR4, CLASP2 +9 more	Copy number gain	not specified	GUncertain significance
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
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)	GM1 gangliosidosis +2 more	GUncertain significance
Select item 1455527	NC_000003.11:g.(?_16710965)_(41275270_?)del	ACAA1, ACVR2B +93 more	Deletion	not provided	GPathogenic
Select item 1414552	NM_000404.4(GLB1):c.69C>A (p.Gly23=)	GLB1, LOC129936434 +1 more	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +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)	Mucopolysaccharidosis, MPS-IV-B +1 more	GUncertain significance
Select item 1332869	NM_000404.4(GLB1):c.75+4dup	GLB1, LOC129936434 +1 more	Duplication (5 prime UTR variant +1 more)	Infantile GM1 gangliosidosis	GPathogenic
Select item 1191383	NM_000404.4(GLB1):c.75+90G>T	GLB1, LOC129936434 +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)	GM1 gangliosidosis +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)	Mucopolysaccharidosis, MPS-IV-B +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_000404.4(GLB1):c.75+10C>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)	GM1 gangliosidosis +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)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 902457	NM_000404.4(GLB1):c.-48G>C	GLB1, LOC129936434 +1 more	Single nucleotide variant (5 prime UTR variant)	Mucopolysaccharidosis, MPS-IV-B +1 more	GConflicting classifications of pathogenicity
Select item 900794	NM_000404.4(GLB1):c.-17C>T	GLB1, LOC129936434 +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=)	LOC129936434, TMPPE +1 more	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 639876	NC_000003.12:g.(?_33096991)_(33124599_?)del	CRTAP, GLB1 +5 more	Deletion	Osteogenesis imperfecta type 7	GPathogenic
Select item 562760	GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3	ABHD5, ACAA1 +135 more	Copy number gain	not provided	GPathogenic
Select item 555329	NM_000404.4(GLB1):c.65_75+1del	GLB1, LOC129936434 +1 more	Deletion (5 prime UTR variant +1 more)	Infantile GM1 gangliosidosis +5 more	GPathogenic/Likely pathogenic
Select item 443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	ANKRD28, APRG1 +155 more	Copy number gain	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 441705	GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3	TRIM71, TRNT1 +145 more	Copy number gain	See cases	GPathogenic
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)	LOC129936434, TMPPE +1 more (L11V)	Single nucleotide variant (missense variant +1 more)	GM1 gangliosidosis +3 more	GConflicting classifications of pathogenicity
Select item 344799	NM_000404.4(GLB1):c.-37C>G	GLB1, LOC129936434 +1 more	Single nucleotide variant (5 prime UTR variant)	GM1 gangliosidosis +2 more	GBenign
Select item 344798	NM_000404.4(GLB1):c.-35T>G	GLB1, LOC129936434 +1 more	Single nucleotide variant (5 prime UTR variant)	GM1 gangliosidosis +1 more	GUncertain significance
Select item 344797	NM_000404.4(GLB1):c.-25C>G	GLB1, LOC129936434 +1 more	Single nucleotide variant (5 prime UTR variant)	GM1 gangliosidosis +2 more	GUncertain significance
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
Select item 264674	NM_000404.4(GLB1):c.75+5G>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 253599	GRCh37/hg19 3p24.1-22.3(chr3:29689082-34233218)x1	CCR4, CLASP2 +20 more	Copy number loss	See cases	GPathogenic
Select item 235596	NM_000404.4(GLB1):c.75+3A>G	LOC129936434, GLB1 +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 (missense variant +2 more)	not provided	GLikely pathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 92913	NM_000404.4(GLB1):c.75+1G>C	GLB1, LOC129936434 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +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)	not provided +2 more	GPathogenic

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