LOC129936511[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 145586	GRCh38/hg38 3p22.3-22.1(chr3:33728406-40662451)x3	ACAA1, ACVR2B +176 more	Copy number gain	See cases	GPathogenic
Select item 1189310	NM_017875.4(SLC25A38):c.69+109G>T	LOC129936511, SLC25A38	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193217	NM_017875.4(SLC25A38):c.69+116A>G	LOC129936511, SLC25A38	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219552	NM_017875.4(SLC25A38):c.69+182G>A	LOC129936511, SLC25A38	Single nucleotide variant (intron variant)	not provided	GLikely benign

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