"GeneDx"[submitter] AND "LOC129929541"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58056	GRCh38/hg38 1p36.21-36.13(chr1:13619979-18466172)x3	LOC129929515, LOC129929516 +211 more	Copy number gain	See cases	GPathogenic
Select item 509480	NM_003000.3(SDHB):c.766-19del	LOC129929541, SDHB	Deletion (intron variant)	not specified +3 more	GLikely benign
Select item 385761	NM_003000.3(SDHB):c.766-20T>C	LOC129929541, SDHB	Single nucleotide variant (intron variant)	not specified +3 more	GLikely benign
Select item 676873	NM_003000.3(SDHB):c.766-40C>T	LOC129929541, SDHB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign

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