"OMIM"[submitter] AND "MATN3"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1299496	NC_000002.12:g.19998776_20009244dup	MATN3, WDR35-DT	Duplication	Multiple epiphyseal dysplasia type 5	GPathogenic
Select item 7544	NM_002381.5(MATN3):c.910T>A (p.Cys304Ser)	MATN3, WDR35-DT (C304S)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, matrilin-3 type	GPathogenic
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 7543	NM_002381.5(MATN3):c.656C>A (p.Ala219Asp)	MATN3 (A219D)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 5	GPathogenic
Select item 7540	NM_002381.5(MATN3):c.581T>A (p.Val194Asp)	MATN3 (V194D)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 5	GPathogenic
Select item 7546	NM_002381.5(MATN3):c.382G>C (p.Ala128Pro)	MATN3 (A128P)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 5	GPathogenic
Select item 7541	NM_002381.5(MATN3):c.361C>T (p.Arg121Trp)	MATN3 (R121W)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 5 +1 more	GPathogenic/Likely pathogenic
Select item 65664	NM_002381.5(MATN3):c.359C>T (p.Thr120Met)	MATN3 (T120M)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 5 +2 more	GPathogenic/Likely pathogenic
Select item 7545	NM_002381.5(MATN3):c.209G>A (p.Arg70His)	MATN3 (R70H)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 5 +1 more	GUncertain significance