"GeneDx"[submitter] AND "LOC108663987"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 57811	GRCh38/hg38 14q32.11-32.13(chr14:90255156-95274696)x1	ASB2, ATXN3 +201 more	Copy number loss	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	IGHD5-18, IGHD5-24 +881 more	Copy number gain	See cases	GPathogenic
Select item 1050334	NM_004993.6(ATXN3):c.892CAG[17] (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGln)	ATXN3, LOC108663987	Microsatellite (inframe_insertion +1 more)	not provided	GBenign
Select item 128514	NM_004993.6(ATXN3):c.891A>G (p.Gln297=)	ATXN3, LOC108663987 (T70A +4 more)	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 128513	NM_004993.6(ATXN3):c.883A>C (p.Lys295Gln)	ATXN3, LOC108663987 (K295Q +11 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 128512	NM_004993.6(ATXN3):c.882A>G (p.Gln294=)	ATXN3, LOC108663987 (K67E +4 more)	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign

ClinVar