"Eurofins Ntd Llc (ga)"[submitter] AND "WDR35-DT"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 284350	NM_002381.5(MATN3):c.1379C>T (p.Ser460Leu)	MATN3, WDR35-DT (S460L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 283828	NM_002381.5(MATN3):c.1171C>T (p.Arg391Cys)	MATN3, WDR35-DT (R391C)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 198148	NM_002381.5(MATN3):c.1169-10G>A	MATN3, WDR35-DT	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 7542	NM_002381.5(MATN3):c.908C>T (p.Thr303Met)	MATN3, WDR35-DT (T303M)	Single nucleotide variant (missense variant)	Connective tissue disorder +4 more	GBenign
Select item 498048	NM_002381.5(MATN3):c.875_876delinsAT (p.Ser292Asn)	MATN3, WDR35-DT (S292N)	Indel (missense variant)	not provided	GUncertain significance
Select item 499445	NM_002381.5(MATN3):c.832G>A (p.Val278Ile)	MATN3, WDR35-DT (V278I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 196341	NM_002381.5(MATN3):c.792G>A (p.Ala264=)	MATN3, WDR35-DT	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity

ClinVar