"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "MATN4"[ - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 785656	NM_001393530.1(MATN4):c.1725C>A (p.Asn575Lys)	MATN4 (N493K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 714818	NM_001393530.1(MATN4):c.1651C>T (p.Arg551Cys)	MATN4 (R510C +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 708006	NM_001393530.1(MATN4):c.909C>T (p.Gly303=)	MATN4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 777578	NM_001393530.1(MATN4):c.690C>T (p.Cys230=)	MATN4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 716246	NM_001393530.1(MATN4):c.95C>T (p.Pro32Leu)	MATN4 (P32L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3248279	NC_000020.10:g.(?_42223339)_(45362473_?)del	WFDC11, WFDC12 +72 more	Deletion	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 2425559	NC_000020.10:g.(?_42223339)_(44638757_?)del	ACOT8, ADA +60 more	Deletion	Combined immunodeficiency due to STK4 deficiency	GPathogenic

ClinVar