"GeneDx"[submitter] AND "TEP1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57743	GRCh38/hg38 14q11.2(chr14:19755249-22741281)x1	ABHD4, ANG +312 more	Copy number loss	See cases	GPathogenic
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 59933	GRCh38/hg38 14q11.2(chr14:20127290-21376436)x3	ANG, APEX1 +119 more	Copy number gain	See cases	GPathogenic
Select item 1232563	NM_007110.5(TEP1):c.7458C>G (p.Ile2486Met)	TEP1 (I2378M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1183378	NM_007110.5(TEP1):c.3583T>C (p.Ser1195Pro)	TEP1 (S1087P +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1301444	NM_007110.5(TEP1):c.939T>C (p.Ala313=)	TEP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1232904	NM_007110.5(TEP1):c.921C>A (p.Asn307Lys)	TEP1 (N307K)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 253659	GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	ABHD4, ACIN1 +149 more	Copy number gain	See cases	GPathogenic

ClinVar