Related gene-specific medical variations for Gene (Select 113246) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024660	NM_138425.3(C12orf57):c.-258T>C	RNU7-1, C12orf57	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2578675	NM_138425.3(C12orf57):c.-266T>C	C12orf57, RNU7-1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1810412	NR_023317.1(RNU7-1):n.23T>G	C12orf57, RNU7-1	Single nucleotide variant (non-coding transcript variant +1 more)	Aicardi-Goutieres syndrome 9	GUncertain significance
Select item 1711336	NM_138425.3(C12orf57):c.-270T>G	C12orf57, RNU7-1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1711335	NM_138425.3(C12orf57):c.-276G>C	C12orf57, RNU7-1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1328524	NM_138425.3(C12orf57):c.-277A>G	RNU7-1, C12orf57	Single nucleotide variant (non-coding transcript variant +1 more)	Aicardi-Goutieres syndrome 9	GLikely pathogenic
Select item 1328141	NM_138425.3(C12orf57):c.-279C>G	C12orf57, RNU7-1	Single nucleotide variant (non-coding transcript variant +1 more)	Aicardi-Goutieres syndrome 9	GLikely pathogenic
Select item 1301230	NM_138425.3(C12orf57):c.-271C>T	C12orf57, RNU7-1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign/Likely benign
Select item 1301145	NM_138425.3(C12orf57):c.-247C>T	C12orf57, RNU7-1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1301050	NM_138425.3(C12orf57):c.-255C>T	C12orf57, RNU7-1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1234510	NM_138425.3(C12orf57):c.-259T>C	C12orf57, RNU7-1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1202615	NM_138425.3(C12orf57):c.-272G>A	C12orf57, RNU7-1	Single nucleotide variant (non-coding transcript variant +1 more)	Aicardi-Goutieres syndrome 9	GPathogenic
Select item 1202614	NM_138425.3(C12orf57):c.-266T>G	C12orf57, RNU7-1	Single nucleotide variant (non-coding transcript variant +1 more)	Aicardi-Goutieres syndrome 9	GPathogenic
Select item 1202613	NM_138425.3(C12orf57):c.-256C>T	RNU7-1, C12orf57	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign/Likely benign
Select item 1202612	NM_138425.3(C12orf57):c.-267_-260delCTGGCTTT	C12orf57, RNU7-1	Deletion (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 1202611	NR_023317.1(RNU7-1):n.28C>T	C12orf57, RNU7-1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1181108	NM_138425.3(C12orf57):c.-263C>T	C12orf57, RNU7-1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GBenign