MCOLN1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 60234	GRCh38/hg38 19p13.2(chr19:7194917-7827432)x3	LOC130063389, LOC130063390 +75 more	Copy number gain	See cases	GUncertain significance
Select item 5132	NM_020533.2(MCOLN1):c.-1015_789del	LOC130063376, MCOLN1	Deletion	Mucolipidosis type IV	GPathogenic
Select item 1878328	NC_000019.10:g.7521739_7528168del	LOC130063376, MCOLN1	Deletion	Mucolipidosis type IV	GPathogenic
Select item 1207393	NC_000019.10:g.7522422C>G	MCOLN1	Single nucleotide variant	not provided	GLikely benign
Select item 1224780	NC_000019.10:g.7522487G>A	MCOLN1	Single nucleotide variant	not provided	GBenign
Select item 893101	NM_020533.3(MCOLN1):c.-102T>G	MCOLN1	Single nucleotide variant (5 prime UTR variant)	Mucolipidosis type IV	GUncertain significance
Select item 330483	NM_020533.3(MCOLN1):c.-88G>T	LOC130063376, MCOLN1	Single nucleotide variant (5 prime UTR variant)	Mucolipidosis type IV	GUncertain significance
Select item 330484	NM_020533.3(MCOLN1):c.-87A>T	MCOLN1, LOC130063376	Single nucleotide variant (5 prime UTR variant)	Mucolipidosis type IV	GUncertain significance
Select item 528767	NC_000019.10:g.(?_7522731)_(7528277_?)del	LOC130063376, MCOLN1	Deletion	Mucolipidosis type IV	GPathogenic
Select item 1093444	NM_020533.3(MCOLN1):c.6A>G (p.Thr2=)	LOC130063376, MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV	GLikely benign
Select item 1726094	NM_020533.3(MCOLN1):c.11dup (p.Ala5fs)	LOC130063376, MCOLN1 (A5fs)	Duplication (frameshift variant)	Mucolipidosis type IV	GLikely pathogenic
Select item 1556057	NM_020533.3(MCOLN1):c.9C>T (p.Ala3=)	LOC130063376, MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV	GLikely benign
Select item 2482761	NM_020533.3(MCOLN1):c.11C>A (p.Pro4Gln)	LOC130063376, MCOLN1 (P4Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2914037	NM_020533.3(MCOLN1):c.15G>C (p.Ala5=)	LOC130063376, MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV	GLikely benign
Select item 330485	NM_020533.3(MCOLN1):c.16G>T (p.Gly6Cys)	LOC130063376, MCOLN1 (G6C)	Single nucleotide variant (missense variant)	Mucolipidosis type IV	GConflicting classifications of pathogenicity
Select item 1307509	NM_020533.3(MCOLN1):c.17G>T (p.Gly6Val)	LOC130063376, MCOLN1 (G6V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1650520	NM_020533.3(MCOLN1):c.18T>G (p.Gly6=)	LOC130063376, MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV	GLikely benign
Select item 1904773	NM_020533.3(MCOLN1):c.21G>T (p.Pro7=)	LOC130063376, MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV	GLikely benign
Select item 2791019	NM_020533.3(MCOLN1):c.24C>A (p.Arg8=)	LOC130063376, MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV	GLikely benign
Select item 893102	NM_020533.3(MCOLN1):c.24C>T (p.Arg8=)	LOC130063376, MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV +1 more	GConflicting classifications of pathogenicity
Select item 2597073	NM_020533.3(MCOLN1):c.29C>T (p.Ser10Leu)	LOC130063376, MCOLN1 (S10L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 370118	NM_020533.3(MCOLN1):c.31+1G>A	LOC130063376, MCOLN1	Single nucleotide variant (splice donor variant)	Mucolipidosis type IV	GLikely pathogenic
Select item 1089824	NM_020533.3(MCOLN1):c.31+4_31+6dup	LOC130063376, MCOLN1	Duplication (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 1615015	NM_020533.3(MCOLN1):c.31+9G>A	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2061828	NM_020533.3(MCOLN1):c.31+10C>T	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2985476	NM_020533.3(MCOLN1):c.31+13_31+32dup	MCOLN1	Duplication (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2704132	NM_020533.3(MCOLN1):c.31+13G>A	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 3022790	NM_020533.3(MCOLN1):c.31+14C>T	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2740299	NM_020533.3(MCOLN1):c.31+19C>T	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2797449	NM_020533.3(MCOLN1):c.31+20C>T	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 1214678	NM_020533.3(MCOLN1):c.31+129G>A	MCOLN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2739303	NM_020533.3(MCOLN1):c.32-17C>A	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2797575	NM_020533.3(MCOLN1):c.32-15C>T	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2847459	NM_020533.3(MCOLN1):c.32-14T>G	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 893103	NM_020533.3(MCOLN1):c.32-12C>A	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GConflicting classifications of pathogenicity
Select item 558938	NM_020533.3(MCOLN1):c.32-10A>G	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GBenign
Select item 2126232	NM_020533.3(MCOLN1):c.32-9T>C	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2701600	NM_020533.3(MCOLN1):c.32-7C>G	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2000101	NM_020533.3(MCOLN1):c.32-7C>T	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2763957	NM_020533.3(MCOLN1):c.32-5C>G	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 555282	NM_020533.3(MCOLN1):c.32-2A>G	MCOLN1	Single nucleotide variant (splice acceptor variant)	Mucolipidosis type IV	GLikely pathogenic
Select item 1469759	NM_020533.3(MCOLN1):c.32-1G>C	MCOLN1	Single nucleotide variant (splice acceptor variant)	Mucolipidosis type IV	GLikely pathogenic
Select item 550237	NM_020533.3(MCOLN1):c.38_41dup (p.Leu15fs)	MCOLN1 (L15fs)	Duplication (frameshift variant)	Mucolipidosis type IV	GPathogenic/Likely pathogenic
Select item 1106482	NM_020533.3(MCOLN1):c.36C>G (p.Thr12=)	MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV	GLikely benign
Select item 743047	NM_020533.3(MCOLN1):c.36C>T (p.Thr12=)	MCOLN1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1410151	NM_020533.3(MCOLN1):c.37G>A (p.Glu13Lys)	MCOLN1 (E13K)	Single nucleotide variant (missense variant)	Mucolipidosis type IV	GUncertain significance
Select item 2902866	NM_020533.3(MCOLN1):c.39G>A (p.Glu13=)	MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV	GLikely benign
Select item 2146858	NM_020533.3(MCOLN1):c.40C>A (p.Arg14=)	MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV	GLikely benign
Select item 1209622	NM_020533.3(MCOLN1):c.41G>A (p.Arg14Gln)	MCOLN1 (R14Q)	Single nucleotide variant (missense variant)	Mucolipidosis type IV	GUncertain significance
Select item 2091565	NM_020533.3(MCOLN1):c.45T>G (p.Leu15=)	MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV	GLikely benign
Select item 2776549	NM_020533.3(MCOLN1):c.46C>T (p.Leu16=)	MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV	GLikely benign
Select item 1658455	NM_020533.3(MCOLN1):c.48G>C (p.Leu16=)	MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV	GLikely benign
Select item 370580	NM_020533.3(MCOLN1):c.54dup (p.Asn19fs)	MCOLN1 (N19fs)	Duplication (frameshift variant)	Mucolipidosis type IV	GPathogenic/Likely pathogenic
Select item 1158196	NM_020533.3(MCOLN1):c.51C>T (p.Thr17=)	MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV	GLikely benign
Select item 1950947	NM_020533.3(MCOLN1):c.54C>T (p.Pro18=)	MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV	GLikely benign
Select item 1144555	NM_020533.3(MCOLN1):c.57C>T (p.Asn19=)	MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV +1 more	GLikely benign
Select item 2162986	NM_020533.3(MCOLN1):c.60C>G (p.Pro20=)	MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV	GLikely benign
Select item 330486	NM_020533.3(MCOLN1):c.60C>T (p.Pro20=)	MCOLN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2085696	NM_020533.3(MCOLN1):c.61G>A (p.Gly21Arg)	MCOLN1 (G21R)	Single nucleotide variant (missense variant)	Mucolipidosis type IV +1 more	GUncertain significance
Select item 1724318	NM_020533.3(MCOLN1):c.63del (p.Tyr22fs)	MCOLN1 (Y22fs)	Deletion (frameshift variant)	Mucolipidosis type IV	GLikely pathogenic
Select item 1209621	NM_020533.3(MCOLN1):c.62G>A (p.Gly21Glu)	MCOLN1 (G21E)	Single nucleotide variant (missense variant)	Mucolipidosis type IV	GUncertain significance
Select item 1673494	NM_020533.3(MCOLN1):c.63G>T (p.Gly21=)	MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV	GLikely benign
Select item 765872	NM_020533.3(MCOLN1):c.63G>A (p.Gly21=)	MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV	GLikely benign
Select item 2153040	NM_020533.3(MCOLN1):c.65A>G (p.Tyr22Cys)	MCOLN1 (Y22C)	Single nucleotide variant (missense variant)	Mucolipidosis type IV	GUncertain significance
Select item 1402137	NM_020533.3(MCOLN1):c.66T>G (p.Tyr22Ter)	MCOLN1 (Y22*)	Single nucleotide variant (nonsense)	Mucolipidosis type IV	GPathogenic
Select item 1125105	NM_020533.3(MCOLN1):c.66T>C (p.Tyr22=)	MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV	GLikely benign
Select item 664616	NM_020533.3(MCOLN1):c.71C>A (p.Thr24Asn)	MCOLN1 (T24N)	Single nucleotide variant (missense variant)	Mucolipidosis type IV +1 more	GConflicting classifications of pathogenicity
Select item 2195500	NM_020533.3(MCOLN1):c.77C>T (p.Ala26Val)	MCOLN1 (A26V)	Single nucleotide variant (missense variant)	Mucolipidosis type IV +1 more	GConflicting classifications of pathogenicity
Select item 1111630	NM_020533.3(MCOLN1):c.78G>T (p.Ala26=)	MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV	GLikely benign
Select item 893104	NM_020533.3(MCOLN1):c.78G>A (p.Ala26=)	MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV +1 more	GConflicting classifications of pathogenicity
Select item 1608647	NM_020533.3(MCOLN1):c.81G>T (p.Gly27=)	MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV	GLikely benign
Select item 796584	NM_020533.3(MCOLN1):c.81G>A (p.Gly27=)	MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV	GLikely benign
Select item 1042404	NM_020533.3(MCOLN1):c.89C>T (p.Pro30Leu)	MCOLN1 (P30L)	Single nucleotide variant (missense variant)	Mucolipidosis type IV +1 more	GUncertain significance
Select item 1417768	NM_020533.3(MCOLN1):c.90G>A (p.Pro30=)	MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV	GLikely benign
Select item 1452230	NM_020533.3(MCOLN1):c.95dup (p.Pro33fs)	MCOLN1 (P33fs)	Duplication (frameshift variant)	Mucolipidosis type IV	GPathogenic
Select item 1539158	NM_020533.3(MCOLN1):c.93C>T (p.Ala31=)	MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV	GLikely benign
Select item 744469	NM_020533.3(MCOLN1):c.93C>A (p.Ala31=)	MCOLN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2412966	NM_020533.3(MCOLN1):c.98C>T (p.Pro33Leu)	MCOLN1 (P33L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1140428	NM_020533.3(MCOLN1):c.99G>A (p.Pro33=)	MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV +1 more	GLikely benign
Select item 2224188	NM_020533.3(MCOLN1):c.100A>C (p.Thr34Pro)	MCOLN1 (T34P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2995842	NM_020533.3(MCOLN1):c.105C>A (p.Pro35=)	MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV	GLikely benign
Select item 765492	NM_020533.3(MCOLN1):c.114G>A (p.Glu38=)	MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV	GLikely benign
Select item 1725999	NM_020533.3(MCOLN1):c.117del (p.Asp40fs)	MCOLN1 (D40fs)	Deletion (frameshift variant)	Mucolipidosis type IV	GLikely pathogenic
Select item 1123308	NM_020533.3(MCOLN1):c.117A>G (p.Glu39=)	MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV	GLikely benign
Select item 1540691	NM_020533.3(MCOLN1):c.120C>T (p.Asp40=)	MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV	GLikely benign
Select item 2701674	NM_020533.3(MCOLN1):c.129T>C (p.Arg43=)	MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV	GLikely benign
Select item 2809826	NM_020533.3(MCOLN1):c.132T>C (p.Arg44=)	MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV	GLikely benign
Select item 1100080	NM_020533.3(MCOLN1):c.135C>G (p.Leu45=)	MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV	GLikely benign
Select item 1425965	NM_020533.3(MCOLN1):c.137A>G (p.Lys46Arg)	MCOLN1 (K46R)	Single nucleotide variant (missense variant)	Mucolipidosis type IV +1 more	GUncertain significance
Select item 1724043	NM_020533.3(MCOLN1):c.141C>G (p.Tyr47Ter)	MCOLN1 (Y47*)	Single nucleotide variant (nonsense)	Mucolipidosis type IV	GLikely pathogenic
Select item 2781861	NM_020533.3(MCOLN1):c.144T>C (p.Phe48=)	MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV	GLikely benign
Select item 2056124	NM_020533.3(MCOLN1):c.154C>G (p.Pro52Ala)	MCOLN1 (P52A)	Single nucleotide variant (missense variant)	Mucolipidosis type IV	GUncertain significance
Select item 1072052	NM_020533.3(MCOLN1):c.159C>A (p.Cys53Ter)	MCOLN1 (C53*)	Single nucleotide variant (nonsense)	Mucolipidosis type IV	GPathogenic
Select item 733362	NM_020533.3(MCOLN1):c.159C>T (p.Cys53=)	MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV	GLikely benign
Select item 2587754	NM_020533.3(MCOLN1):c.160G>A (p.Asp54Asn)	MCOLN1 (D54N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1414260	NM_020533.3(MCOLN1):c.165del (p.Lys55fs)	MCOLN1 (K55fs)	Deletion (frameshift variant)	Mucolipidosis type IV	GPathogenic
Select item 951639	NM_020533.3(MCOLN1):c.166_182del (p.Phe56fs)	MCOLN1 (F56fs)	Deletion (frameshift variant)	Mucolipidosis type IV	GPathogenic
Select item 1072635	NM_020533.3(MCOLN1):c.169C>T (p.Arg57Ter)	MCOLN1 (R57*)	Single nucleotide variant (nonsense)	Mucolipidosis type IV	GPathogenic
Select item 330487	NM_020533.3(MCOLN1):c.177G>A (p.Lys59=)	MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV	GConflicting classifications of pathogenicity

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