ClinVar for MedGen (Select 68663) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3379369	NM_020533.3(MCOLN1):c.877+4A>G	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GUncertain significance
Select item 3248552	NM_020533.3(MCOLN1):c.1363C>T (p.Arg455Cys)	MCOLN1 (R455C)	Single nucleotide variant (missense variant)	Mucolipidosis type IV	GUncertain significance
Select item 3248427	NC_000019.9:g.(?_7586623)_(7593055_?)del	MCOLN1	Deletion	Mucolipidosis type IV	GPathogenic
Select item 3248426	NC_000019.9:g.(?_7586622)_(7593056_?)del	MCOLN1	Deletion	Mucolipidosis type IV	GPathogenic
Select item 3248425	NC_000019.9:g.(?_7586622)_(7593054_?)del	MCOLN1	Deletion	Mucolipidosis type IV	GPathogenic
Select item 3248424	NC_000019.9:g.(?_7598389)_(7598681_?)del	MCOLN1	Deletion	Mucolipidosis type IV	GPathogenic
Select item 3248423	NC_000019.9:g.(?_7504827)_(7712696_?)del	ARHGEF18, CAMSAP3 +9 more	Deletion	Mucolipidosis type IV	GPathogenic
Select item 3239680	NM_020533.3(MCOLN1):c.408C>G (p.Tyr136Ter)	MCOLN1 (Y136*)	Single nucleotide variant (nonsense)	Mucolipidosis type IV	GLikely pathogenic
Select item 3235988	NM_020533.3(MCOLN1):c.416T>C (p.Leu139Ser)	MCOLN1 (L139S)	Single nucleotide variant (missense variant)	Mucolipidosis type IV	GUncertain significance
Select item 3022790	NM_020533.3(MCOLN1):c.31+14C>T	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 3020236	NM_020533.3(MCOLN1):c.1706+10C>T	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 3014473	NM_020533.3(MCOLN1):c.1576-20C>T	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 3014285	NM_020533.3(MCOLN1):c.1135-11C>T	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 3013960	NM_020533.3(MCOLN1):c.680+19A>C	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 3006825	NM_020533.3(MCOLN1):c.1465C>T (p.Leu489=)	MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV	GLikely benign
Select item 3006302	NM_020533.3(MCOLN1):c.1518C>T (p.Ile506=)	MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV	GLikely benign
Select item 3005443	NM_020533.3(MCOLN1):c.984+19G>A	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 3001812	NM_020533.3(MCOLN1):c.572-18C>G	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 3001685	NM_020533.3(MCOLN1):c.438G>A (p.Arg146=)	MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV	GLikely benign
Select item 3000397	NM_020533.3(MCOLN1):c.406-15C>T	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 3000395	NM_020533.3(MCOLN1):c.571+15C>G	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2997746	NM_020533.3(MCOLN1):c.571+12G>C	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2997516	NM_020533.3(MCOLN1):c.1338G>T (p.Val446=)	MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV	GLikely benign
Select item 2997477	NM_020533.3(MCOLN1):c.219C>T (p.Ile73=)	MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV	GLikely benign
Select item 2996329	NM_020533.3(MCOLN1):c.1359+14C>G	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
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 2985990	NM_020533.3(MCOLN1):c.238-16A>G	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2985821	NM_020533.3(MCOLN1):c.405+23_405+58del	MCOLN1	Deletion (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 2984722	NM_020533.3(MCOLN1):c.1707-18C>T	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2979219	NM_020533.3(MCOLN1):c.1236+20C>T	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2975846	NM_020533.3(MCOLN1):c.1263C>G (p.Ala421=)	MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV	GLikely benign
Select item 2975492	NM_020533.3(MCOLN1):c.1713C>A (p.Pro571=)	MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV	GLikely benign
Select item 2975222	NM_020533.3(MCOLN1):c.878-15C>T	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2974711	NM_020533.3(MCOLN1):c.1311G>C (p.Leu437=)	MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV	GLikely benign
Select item 2971878	NM_020533.3(MCOLN1):c.1360-17C>A	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2968941	NM_020533.3(MCOLN1):c.1237-14C>G	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2960238	NM_020533.3(MCOLN1):c.702C>T (p.His234=)	MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV	GLikely benign
Select item 2959912	NM_020533.3(MCOLN1):c.572-11C>G	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2958871	NM_020533.3(MCOLN1):c.777+7C>T	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2958192	NM_020533.3(MCOLN1):c.1359+11C>T	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2920222	NM_020533.3(MCOLN1):c.877+7C>A	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2918992	NM_020533.3(MCOLN1):c.778-16C>T	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2917043	NM_020533.3(MCOLN1):c.1458C>T (p.Arg486=)	MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV	GLikely benign
Select item 2916568	NM_020533.3(MCOLN1):c.1576-13C>T	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2916179	NM_020533.3(MCOLN1):c.1188G>T (p.Leu396=)	MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV	GLikely benign
Select item 2915887	NM_020533.3(MCOLN1):c.236_237insCCATTATGTAAAATCCATTGTCGCATCCACCTTTATTATCAGTCTCTTCCCCACAACAATATTCATGTGCCTAGACCAAGAAGTTATTATCTC (p.Gln79delinsHisHisTyrValLysSerIleValAlaSerThrPheIleIleSerLeuPheProThrThrIlePheMetCysLeuAspGlnGluValIleIleSer)	MCOLN1	Insertion (inframe_indel)	Mucolipidosis type IV	GLikely pathogenic
Select item 2915799	NM_020533.3(MCOLN1):c.1576-15G>C	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2915451	NM_020533.3(MCOLN1):c.571+19G>A	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
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 2911504	NM_020533.3(MCOLN1):c.778-14del	MCOLN1	Deletion (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2911013	NM_020533.3(MCOLN1):c.777+12C>G	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2909929	NM_020533.3(MCOLN1):c.680+17C>T	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2909120	NM_020533.3(MCOLN1):c.984+16C>T	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2905007	NM_020533.3(MCOLN1):c.878-13G>T	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2904241	NM_020533.3(MCOLN1):c.1707-11C>T	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
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 2902696	NM_020533.3(MCOLN1):c.1135-16C>T	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2902292	NM_020533.3(MCOLN1):c.681-12C>A	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2901621	NM_020533.3(MCOLN1):c.985-16C>T	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2901609	NM_020533.3(MCOLN1):c.1135-17G>A	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2900225	NM_020533.3(MCOLN1):c.878-20C>A	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2897090	NM_020533.3(MCOLN1):c.1360-16G>T	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2896788	NM_020533.3(MCOLN1):c.238-12C>A	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2894299	NM_020533.3(MCOLN1):c.680+20G>C	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2891482	NM_020533.3(MCOLN1):c.985-19C>T	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2890884	NM_020533.3(MCOLN1):c.237+15G>A	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2887746	NM_020533.3(MCOLN1):c.1236+13C>T	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2887726	NM_020533.3(MCOLN1):c.1576-20C>G	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2885984	NM_020533.3(MCOLN1):c.1359+10A>G	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2884109	NM_020533.3(MCOLN1):c.1706+14dup	MCOLN1	Duplication (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2883781	NM_020533.3(MCOLN1):c.877+11G>A	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2883189	NM_020533.3(MCOLN1):c.680+18G>A	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2881365	NM_020533.3(MCOLN1):c.1620C>T (p.Tyr540=)	MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV	GLikely benign
Select item 2879982	NM_020533.3(MCOLN1):c.984+11T>G	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2874220	NM_020533.3(MCOLN1):c.406-18C>T	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2872650	NM_020533.3(MCOLN1):c.1576-13C>A	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2872498	NM_020533.3(MCOLN1):c.237+16C>A	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2870318	NM_020533.3(MCOLN1):c.1071G>A (p.Leu357=)	MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV	GLikely benign
Select item 2865667	NM_020533.3(MCOLN1):c.778-5dup	MCOLN1	Duplication (intron variant)	Mucolipidosis type IV	GBenign
Select item 2865192	NM_020533.3(MCOLN1):c.1135-20G>A	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2859594	NM_020533.3(MCOLN1):c.238-5C>T	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2859325	NM_020533.3(MCOLN1):c.405+8_405+9del	MCOLN1	Deletion (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2858788	NM_020533.3(MCOLN1):c.777+7C>G	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2855175	NM_020533.3(MCOLN1):c.1347C>T (p.Pro449=)	MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV	GLikely benign
Select item 2853335	NM_020533.3(MCOLN1):c.984+18T>C	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2852700	NM_020533.3(MCOLN1):c.798A>G (p.Ala266=)	MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV	GLikely benign
Select item 2850449	NM_020533.3(MCOLN1):c.1308C>T (p.Tyr436=)	MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV	GLikely benign
Select item 2847638	NM_020533.3(MCOLN1):c.822C>T (p.Ser274=)	MCOLN1	Single nucleotide variant (synonymous 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 2843353	NM_020533.3(MCOLN1):c.778-10G>A	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2841265	NM_020533.3(MCOLN1):c.940del (p.Leu314fs)	MCOLN1 (L314fs)	Deletion (frameshift variant)	Mucolipidosis type IV	GPathogenic
Select item 2839868	NM_020533.3(MCOLN1):c.1188G>A (p.Leu396=)	MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV	GLikely benign
Select item 2839760	NM_020533.3(MCOLN1):c.1305C>A (p.Ile435=)	MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV	GLikely benign
Select item 2836257	NM_020533.3(MCOLN1):c.1359+12C>A	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2832273	NM_020533.3(MCOLN1):c.778-17C>A	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2830946	NM_020533.3(MCOLN1):c.954C>T (p.Arg318=)	MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV	GLikely benign
Select item 2828386	NM_020533.3(MCOLN1):c.1576-16C>T	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2825531	NM_020533.3(MCOLN1):c.984+11T>C	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 2825439	NM_020533.3(MCOLN1):c.1224C>T (p.Phe408=)	MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV	GLikely benign

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