"GeneDx"[submitter] AND "LOC129935417"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152538	GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1	ABI2, ADAM23 +293 more	Copy number loss	See cases	GPathogenic
Select item 58817	GRCh38/hg38 2q33.1(chr2:201537291-201896769)x1	ALS2, C2CD6 +11 more	Copy number loss	See cases	GPathogenic
Select item 130594	NM_001044385.3(TMEM237):c.9T>G (p.Thr3=)	LOC129935417, TMEM237	Single nucleotide variant (synonymous variant)	Joubert syndrome 14 +2 more	GBenign
Select item 257311	NM_001044385.3(TMEM237):c.-12G>A	TMEM237, LOC129935417	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GBenign
Select item 511680	NM_001044385.3(TMEM237):c.-45G>A	LOC129935417, TMEM237	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1219604	NC_000002.12:g.201643543G>T	LOC129935417, TMEM237	Single nucleotide variant	not provided	GLikely benign
Select item 1245571	NC_000002.12:g.201643603C>T	LOC129935417, TMEM237	Single nucleotide variant	not provided	GBenign

ClinVar