"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "SNORD118"[ - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1694828	NM_183065.4(TMEM107):c.*760G>A	SNORD118, TMEM107	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely pathogenic
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 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 2578783	NM_183065.4(TMEM107):c.*748A>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2672688	NM_183065.4(TMEM107):c.*746dup	SNORD118, TMEM107	Duplication (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1599029	NM_183065.4(TMEM107):c.*730C>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign/Likely benign
Select item 808223	NM_183065.4(TMEM107):c.*727C>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1641445	NM_183065.4(TMEM107):c.*724C>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1672119	NM_183065.4(TMEM107):c.*720C>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1588293	NM_183065.4(TMEM107):c.*720C>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign/Likely benign
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 1898519	NM_183065.4(TMEM107):c.*708G>A	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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 1711429	NM_183065.4(TMEM107):c.*682A>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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 624094	NM_183065.4(TMEM107):c.*670T>C	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1165893	NM_183065.4(TMEM107):c.*666A>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign/Likely benign
Select item 1632233	NM_183065.4(TMEM107):c.*665G>A	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1630244	NM_183065.4(TMEM107):c.663_664insC	SNORD118, TMEM107	Insertion (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1580042	NM_183065.4(TMEM107):c.*658C>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign/Likely benign
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 1298692	NM_183065.4(TMEM107):c.652_653insT	SNORD118, TMEM107	Insertion (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1483920	NM_183065.4(TMEM107):c.*651C>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 808224	NM_183065.4(TMEM107):c.*645C>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign/Likely benign
Select item 1667001	NM_183065.4(TMEM107):c.*644C>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1175904	NM_183065.4(TMEM107):c.*639C>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign/Likely benign
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 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 1386565	NM_183065.4(TMEM107):c.*620C>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1361005	NM_183065.4(TMEM107):c.*619T>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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 1701309	NM_183065.4(TMEM107):c.569_570delinsC	LOC130060223, SNORD118 +1 more	Indel (3 prime UTR variant +1 more)	not provided	GUncertain significance

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Items: 34