Related gene-specific medical variations for Gene (Select 57192) - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359738	NM_020533.3(MCOLN1):c.587A>C (p.Asp196Ala)	MCOLN1 (D196A)	Single nucleotide variant (missense variant)	not provided	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 3239680	NM_020533.3(MCOLN1):c.408C>G (p.Tyr136Ter)	MCOLN1 (Y136*)	Single nucleotide variant (nonsense)	Mucolipidosis type IV	GLikely pathogenic
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 2791019	NM_020533.3(MCOLN1):c.24C>A (p.Arg8=)	LOC130063376, MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV	GLikely benign
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 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 2441360	NM_020533.3(MCOLN1):c.1034G>A (p.Trp345Ter)	MCOLN1 (W345*)	Single nucleotide variant (nonsense)	Mucolipidosis type IV	GLikely pathogenic
Select item 2433678	NM_020533.3(MCOLN1):c.1002G>T (p.Met334Ile)	MCOLN1 (M334I)	Single nucleotide variant (missense variant)	Mucolipidosis type IV	GUncertain significance
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 1726094	NM_020533.3(MCOLN1):c.11dup (p.Ala5fs)	LOC130063376, MCOLN1 (A5fs)	Duplication (frameshift variant)	Mucolipidosis type IV	GLikely pathogenic
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 1556057	NM_020533.3(MCOLN1):c.9C>T (p.Ala3=)	LOC130063376, MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV	GLikely benign
Select item 1323272	NM_020533.3(MCOLN1):c.278del (p.Phe93fs)	MCOLN1 (F93fs)	Deletion (frameshift variant)	Mucolipidosis type IV	GPathogenic
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 1093444	NM_020533.3(MCOLN1):c.6A>G (p.Thr2=)	LOC130063376, MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV	GLikely benign
Select item 1089824	NM_020533.3(MCOLN1):c.31+4_31+6dup	LOC130063376, MCOLN1	Duplication (intron variant)	Mucolipidosis type IV	GLikely benign
Select item 991189	NM_020533.3(MCOLN1):c.*8T>C	MCOLN1	Single nucleotide variant (3 prime UTR variant)	Mucolipidosis type IV	GLikely benign
Select item 991187	NM_020533.3(MCOLN1):c.443C>T (p.Ala148Val)	MCOLN1 (A148V)	Single nucleotide variant (missense variant)	Mucolipidosis type IV	GUncertain significance
Select item 991186	NM_020533.3(MCOLN1):c.338C>T (p.Ala113Val)	MCOLN1 (A113V)	Single nucleotide variant (missense 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 370118	NM_020533.3(MCOLN1):c.31+1G>A	LOC130063376, MCOLN1	Single nucleotide variant (splice donor variant)	Mucolipidosis type IV	GLikely pathogenic
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 330484	NM_020533.3(MCOLN1):c.-87A>T	MCOLN1, LOC130063376	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 208020	AF287270:g.511_6943del	MCOLN1	Deletion	Mucolipidosis type IV	GPathogenic
Select item 5138	NM_020533.3:c.236_237ins[NC_012920.1:g.12435_12528]	MCOLN1	Insertion	Mucolipidosis type IV	GPathogenic

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Links from Gene

Items: 30