"GeneDx"[submitter] AND "SPATA16"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937936, LOC129937937 +631 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 1235819	NM_031955.6(SPATA16):c.1228+275T>C	SPATA16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 344216	NM_031955.6(SPATA16):c.675C>T (p.Ser225=)	SPATA16	Single nucleotide variant (synonymous variant)	Globozoospermia +1 more	GBenign
Select item 344219	NM_031955.6(SPATA16):c.440G>A (p.Gly147Glu)	SPATA16 (G147E)	Single nucleotide variant (missense variant)	Globozoospermia +1 more	GBenign
Select item 344221	NM_031955.6(SPATA16):c.397A>G (p.Met133Val)	SPATA16 (M133V)	Single nucleotide variant (missense variant)	Globozoospermia +1 more	GBenign
Select item 344223	NM_031955.6(SPATA16):c.232G>A (p.Glu78Lys)	SPATA16 (E78K)	Single nucleotide variant (missense variant)	Globozoospermia +1 more	GBenign
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic

ClinVar