"GeneDx"[submitter] AND "LOC129996483"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	LOC129996415, LOC129996416 +435 more	Copy number loss	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC132089395, LOC132089396 +324 more	Copy number loss	See cases	GPathogenic
Select item 1302136	NM_006245.4(PPP2R5D):c.-37G>T	LOC129996483, PPP2R5D	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1271131	NM_006245.4(PPP2R5D):c.-32G>T	LOC129996483, PPP2R5D	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1302037	NM_006245.4(PPP2R5D):c.-5C>T	LOC129996483, PPP2R5D	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1309172	NM_006245.4(PPP2R5D):c.6C>T (p.Pro2=)	LOC129996483, PPP2R5D	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1208150	NM_006245.4(PPP2R5D):c.8A>T (p.Tyr3Phe)	LOC129996483, PPP2R5D (Y3F)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GConflicting classifications of pathogenicity

ClinVar