"GeneDx"[submitter] AND "DEGS1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 146036	GRCh38/hg38 1q41-42.12(chr1:223749425-224604271)x1	CAPN2, CNIH3 +40 more	Copy number loss	See cases	GUncertain significance
Select item 1275919	NC_000001.11:g.224183111C>T	DEGS1	Single nucleotide variant	not provided	GBenign
Select item 1167657	NM_003676.4(DEGS1):c.528C>T (p.Phe176=)	DEGS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1279214	NM_003676.4(DEGS1):c.825+211G>T	DEGS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1803481	NM_003676.4(DEGS1):c.890T>C (p.Leu297Pro)	DEGS1 (L261P +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1232112	NM_003676.4(DEGS1):c.*54A>G	DEGS1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1231294	NM_003676.4(DEGS1):c.*144A>G	DEGS1, LOC129932581	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

ClinVar