"Counsyl"[submitter] AND "MCOLN1"[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 5132	NM_020533.2(MCOLN1):c.-1015_789del	LOC130063376, MCOLN1	Deletion	Mucolipidosis type IV	GPathogenic
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 555282	NM_020533.3(MCOLN1):c.32-2A>G	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 370580	NM_020533.3(MCOLN1):c.54dup (p.Asn19fs)	MCOLN1 (N19fs)	Duplication (frameshift variant)	Mucolipidosis type IV	GPathogenic/Likely pathogenic
Select item 5136	NM_020533.3(MCOLN1):c.304C>T (p.Arg102Ter)	MCOLN1 (R102*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 208030	NM_020533.3(MCOLN1):c.514C>T (p.Arg172Ter)	MCOLN1 (R172*)	Single nucleotide variant (nonsense)	Mucolipidosis type IV	GPathogenic/Likely pathogenic
Select item 554026	NM_020533.3(MCOLN1):c.571+2T>C	MCOLN1	Single nucleotide variant (splice donor variant)	Mucolipidosis type IV	GPathogenic/Likely pathogenic
Select item 557604	NM_020533.3(MCOLN1):c.681-19A>C	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV	GConflicting classifications of pathogenicity
Select item 371671	NM_020533.3(MCOLN1):c.681-2A>G	MCOLN1	Single nucleotide variant (splice acceptor variant)	Mucolipidosis type IV	GLikely pathogenic
Select item 550093	NM_020533.3(MCOLN1):c.777+12dup	MCOLN1	Duplication (intron variant)	Mucolipidosis type IV	GBenign/Likely benign
Select item 553659	NM_020533.3(MCOLN1):c.840_845del (p.His280_Ile281del)	MCOLN1	Deletion (inframe_deletion)	Mucolipidosis type IV	GUncertain significance
Select item 371144	NM_020533.3(MCOLN1):c.855_856insA (p.His286fs)	MCOLN1 (H286fs)	Insertion (frameshift variant)	Mucolipidosis type IV	GLikely pathogenic
Select item 208039	NM_020533.3(MCOLN1):c.920del (p.Leu307fs)	MCOLN1 (L307fs)	Deletion (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 5133	NM_020533.3(MCOLN1):c.964C>T (p.Arg322Ter)	MCOLN1 (R322*)	Single nucleotide variant (nonsense)	Mucolipidosis type IV +2 more	GPathogenic/Likely pathogenic
Select item 555937	NM_020533.3(MCOLN1):c.973_984+10del	MCOLN1	Deletion (splice donor variant)	Mucolipidosis type IV	GLikely pathogenic
Select item 371019	NM_020533.3(MCOLN1):c.984+1G>A	MCOLN1	Single nucleotide variant (splice donor variant)	Mucolipidosis type IV	GPathogenic/Likely pathogenic
Select item 370970	NM_020533.3(MCOLN1):c.1047dup (p.Phe350fs)	MCOLN1 (F350fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 5135	NM_020533.3(MCOLN1):c.1084G>T (p.Asp362Tyr)	MCOLN1 (D362Y)	Single nucleotide variant (missense variant)	Mucolipidosis type IV +1 more	GPathogenic/Likely pathogenic
Select item 555566	NM_020533.3(MCOLN1):c.1134+2T>C	MCOLN1	Single nucleotide variant (splice donor variant)	Mucolipidosis type IV	GLikely pathogenic
Select item 371520	NM_020533.3(MCOLN1):c.1135-2A>G	MCOLN1	Single nucleotide variant (splice acceptor variant)	Mucolipidosis type IV	GLikely pathogenic
Select item 371113	NM_020533.3(MCOLN1):c.1135-1G>A	MCOLN1	Single nucleotide variant (splice acceptor variant)	Mucolipidosis type IV	GLikely pathogenic
Select item 370398	NM_020533.3(MCOLN1):c.1135-1G>C	MCOLN1	Single nucleotide variant (splice acceptor variant)	Mucolipidosis type IV	GPathogenic/Likely pathogenic
Select item 370494	NM_020533.3(MCOLN1):c.1447C>T (p.Gln483Ter)	MCOLN1 (Q483*)	Single nucleotide variant (nonsense)	Mucolipidosis type IV	GLikely pathogenic
Select item 556096	NM_020533.3(MCOLN1):c.1476del (p.Phe493fs)	MCOLN1 (F493fs)	Deletion (frameshift variant)	Mucolipidosis type IV	GUncertain significance
Select item 552804	NM_020533.3(MCOLN1):c.1621del (p.Ile541fs)	MCOLN1 (I541fs)	Deletion (frameshift variant)	Mucolipidosis type IV	GUncertain significance
Select item 555226	NM_020533.3(MCOLN1):c.1717GAG[1] (p.Glu574del)	MCOLN1 (E574del)	Microsatellite (inframe_deletion)	Mucolipidosis type IV	GUncertain significance
Select item 553196	NM_020533.3(MCOLN1):c.1735del (p.Leu578_Val579insTer)	MCOLN1	Deletion (nonsense)	Mucolipidosis type IV	GUncertain significance

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Items: 28