"GeneDx"[submitter] AND "LOC130059789"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59521	GRCh38/hg38 16q24.2-24.3(chr16:88159660-89506042)x1	ACSF3, ANKRD11 +160 more	Copy number loss	See cases	GPathogenic
Select item 59538	GRCh38/hg38 16q24.2-24.3(chr16:88640116-89530475)x1	LOC130059760, LOC130059761 +129 more	Copy number loss	See cases	GPathogenic
Select item 59539	GRCh38/hg38 16q24.2-24.3(chr16:88662702-89454555)x1	ACSF3, ANKRD11 +113 more	Copy number loss	See cases	GPathogenic
Select item 1329720	NC_000016.10:g.89093708C>T	ACSF3, LOC130059789	Single nucleotide variant	not provided	GLikely benign
Select item 1703310	NC_000016.10:g.89093730G>A	ACSF3, LOC130059789	Single nucleotide variant	not provided	GLikely benign
Select item 1266611	NC_000016.10:g.89093750G>C	ACSF3, LOC130059789	Single nucleotide variant	not provided	GBenign
Select item 1234159	NC_000016.10:g.89093755G>A	ACSF3, LOC130059789	Single nucleotide variant	not provided	GBenign
Select item 1294308	NC_000016.10:g.89093807C>A	ACSF3, LOC130059789	Single nucleotide variant	not provided	GBenign
Select item 1296438	NM_001243279.3(ACSF3):c.-315C>G	ACSF3, LOC130059789	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1248015	NM_001243279.3(ACSF3):c.-269C>G	ACSF3, LOC130059789	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 516974	NM_001243279.3(ACSF3):c.-194+14G>C	ACSF3, LOC130059789	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 379938	NM_001243279.3(ACSF3):c.-194+20C>G	LOC130059789, ACSF3	Single nucleotide variant (intron variant)	not provided	GLikely benign