"GeneDx"[submitter] AND "MEA1"[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 190286	NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)	MEA1, PPP2R5D (E198K +3 more)	Single nucleotide variant (missense variant)	Neurodevelopmental delay +6 more	GPathogenic
Select item 1810447	NM_006245.4(PPP2R5D):c.1768C>T (p.Arg590Trp)	MEA1, PPP2R5D (R439W +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1232946	NM_006245.4(PPP2R5D):c.1773G>A (p.Ala591=)	MEA1, PPP2R5D	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign/Likely benign
Select item 1280362	NM_006245.4(PPP2R5D):c.*21G>C	MEA1, PPP2R5D	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1193304	NM_006245.4(PPP2R5D):c.*265T>C	MEA1, PPP2R5D	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign

ClinVar