C3281200[trait identifier] AND "Laboratory of Neurogenetics and Neuroi - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 929297	NM_001139.3(ALOX12B):c.1275+77_1275+105dup	ALOX12B, SNORD118	Duplication (intron variant)	Leukoencephalopathy with calcifications and cysts	GPathogenic
Select item 929296	NM_001139.3(ALOX12B):c.1275+78G>A	ALOX12B, SNORD118	Single nucleotide variant (intron variant)	Leukoencephalopathy with calcifications and cysts	GPathogenic
Select item 929298	NM_001139.3(ALOX12B):c.1275+30_1275+35del	ALOX12B, SNORD118	Deletion (intron variant)	Leukoencephalopathy with calcifications and cysts	GPathogenic
Select item 929299	NM_183065.4(TMEM107):c.545_826del	LOC130060223, SNORD118 +1 more	Deletion (3 prime UTR variant +1 more)	Leukoencephalopathy with calcifications and cysts	GPathogenic
Select item 929263	NM_183065.4(TMEM107):c.*760G>T	SNORD118, TMEM107	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 265788	NM_183065.4(TMEM107):c.*759C>T	SNORD118, TMEM107	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy with calcifications and cysts +1 more	GPathogenic/Likely pathogenic
Select item 929264	NM_183065.4(TMEM107):c.*755C>G	SNORD118, TMEM107	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy with calcifications and cysts	GPathogenic
Select item 872120	NM_183065.4(TMEM107):c.*751C>T	SNORD118, TMEM107	Single nucleotide variant (3 prime UTR variant +1 more)	TMEM107-related condition +2 more	GConflicting classifications of pathogenicity
Select item 929266	NM_183065.4(TMEM107):c.*745C>A	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	Leukoencephalopathy with calcifications and cysts	GPathogenic
Select item 929265	NM_183065.4(TMEM107):c.*745C>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	Leukoencephalopathy with calcifications and cysts +1 more	GConflicting classifications of pathogenicity
Select item 929267	NM_183065.4(TMEM107):c.*744T>C	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	Leukoencephalopathy with calcifications and cysts	GPathogenic
Select item 929268	NM_183065.4(TMEM107):c.*741C>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	Leukoencephalopathy with calcifications and cysts	GPathogenic
Select item 929269	NM_183065.4(TMEM107):c.*740C>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 929270	NM_183065.4(TMEM107):c.*718G>A	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	Leukoencephalopathy with calcifications and cysts +1 more	GConflicting classifications of pathogenicity
Select item 929271	NM_183065.4(TMEM107):c.*717G>A	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 929272	NM_183065.4(TMEM107):c.*714T>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	Leukoencephalopathy with calcifications and cysts	GPathogenic
Select item 929273	NM_183065.4(TMEM107):c.*696A>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	Leukoencephalopathy with calcifications and cysts	GLikely pathogenic
Select item 929275	NM_183065.4(TMEM107):c.*695G>A	TMEM107, SNORD118	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 929274	NM_183065.4(TMEM107):c.*695G>C	SNORD118, TMEM107	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy with calcifications and cysts	GPathogenic
Select item 929277	NM_183065.4(TMEM107):c.*689A>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 929276	NM_183065.4(TMEM107):c.*689A>C	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 929278	NM_183065.4(TMEM107):c.*688G>A	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 929279	NM_183065.4(TMEM107):c.*687T>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	Leukoencephalopathy with calcifications and cysts	GPathogenic
Select item 929280	NM_183065.4(TMEM107):c.*686A>G	TMEM107, SNORD118	Single nucleotide variant (non-coding transcript variant +1 more)	Leukoencephalopathy with calcifications and cysts +1 more	GPathogenic/Likely pathogenic
Select item 929281	NM_183065.4(TMEM107):c.*678G>A	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 929283	NM_183065.4(TMEM107):c.674_675insT	SNORD118, TMEM107	Insertion (non-coding transcript variant +1 more)	Leukoencephalopathy with calcifications and cysts	GPathogenic
Select item 929282	NM_183065.4(TMEM107):c.*675A>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 929284	NM_183065.4(TMEM107):c.*674G>C	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	Leukoencephalopathy with calcifications and cysts	GPathogenic
Select item 929286	NM_183065.4(TMEM107):c.*672dup	SNORD118, TMEM107	Duplication (non-coding transcript variant +1 more)	Leukoencephalopathy with calcifications and cysts	GPathogenic
Select item 929285	NM_183065.4(TMEM107):c.*673T>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	Leukoencephalopathy with calcifications and cysts	GPathogenic
Select item 265787	NM_183065.4(TMEM107):c.*672A>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 929288	NM_183065.4(TMEM107):c.*670dup	SNORD118, TMEM107	Duplication (non-coding transcript variant +1 more)	Leukoencephalopathy with calcifications and cysts	GPathogenic
Select item 929287	NM_183065.4(TMEM107):c.*671G>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	Leukoencephalopathy with calcifications and cysts	GPathogenic
Select item 265786	NM_183065.4(TMEM107):c.*671G>A	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 929289	NM_183065.4(TMEM107):c.*656G>A	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 929291	NM_183065.4(TMEM107):c.*653G>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	Leukoencephalopathy with calcifications and cysts	GPathogenic
Select item 929290	NM_183065.4(TMEM107):c.*653G>C	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 808225	NM_183065.4(TMEM107):c.*638C>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 522852	NM_183065.4(TMEM107):c.*634C>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	Leukoencephalopathy with calcifications and cysts	GUncertain significance
Select item 929293	NM_183065.4(TMEM107):c.*622G>A	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 929292	NM_183065.4(TMEM107):c.*622G>C	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 929294	NM_183065.4(TMEM107):c.*617C>A	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	Leukoencephalopathy with calcifications and cysts	GPathogenic
Select item 522851	NM_183065.4(TMEM107):c.*617C>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 929295	NM_183065.4(TMEM107):c.*616T>C	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	Leukoencephalopathy with calcifications and cysts	GPathogenic

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Items: 44