"GeneDx"[submitter] AND "MMEL1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58244	GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1	LOC129929262, LOC129929263 +458 more	Copy number loss	See cases	GPathogenic
Select item 58036	GRCh38/hg38 1p36.33-36.32(chr1:792758-5006311)x3	LINC01786, LINC02593 +338 more	Copy number gain	See cases	GPathogenic
Select item 58315	GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x3	ACAP3, AGRN +246 more	Copy number gain	See cases	GPathogenic
Select item 58318	GRCh38/hg38 1p36.33-36.31(chr1:1181847-5507243)x1	ACAP3, ACTRT2 +273 more	Copy number loss	See cases	GPathogenic
Select item 144793	GRCh38/hg38 1p36.32(chr1:2563698-2689265)x3	LOC100996583, LOC121967050 +7 more	Copy number gain	See cases	GBenign
Select item 1303694	NM_033467.4(MMEL1):c.42C>T (p.Ala14=)	LOC121967050, MMEL1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1303609	NM_033467.4(MMEL1):c.21A>C (p.Pro7=)	LOC121967050, MMEL1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 253626	GRCh37/hg19 1p36.33-36.32(chr1:874455-3177921)x1	ACAP3, ACTRT2 +64 more	Copy number loss	See cases	GPathogenic
Select item 253595	GRCh37/hg19 1p36.33-36.32(chr1:874455-2577794)x1	ACAP3, AGRN +62 more	Copy number loss	See cases	GPathogenic
Select item 253459	GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	CCNL2, CDK11A +188 more	Copy number loss	See cases	GPathogenic