"PreventionGenetics, part of Exact Sciences"[submitter] AND "MATN3"[ge - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 258647	NM_002381.5(MATN3):c.1406-4C>T	MATN3, WDR35 +1 more	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 258646	NM_002381.5(MATN3):c.1405+24C>G	MATN3, WDR35-DT	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 760324	NM_002381.5(MATN3):c.1218G>T (p.Val406=)	MATN3, WDR35-DT	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1533556	NM_002381.5(MATN3):c.1096G>T (p.Asp366Tyr)	MATN3, WDR35-DT (D366Y)	Single nucleotide variant (missense variant)	MATN3-related disorder +1 more	GLikely benign
Select item 3055122	NM_002381.5(MATN3):c.1020T>C (p.Asn340=)	MATN3, WDR35-DT	Single nucleotide variant (synonymous variant)	MATN3-related disorder	GLikely benign
Select item 258649	NM_002381.5(MATN3):c.909G>A (p.Thr303=)	MATN3, WDR35-DT	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 7542	NM_002381.5(MATN3):c.908C>T (p.Thr303Met)	MATN3, WDR35-DT (T303M)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 5 +4 more	GBenign
Select item 258648	NM_002381.5(MATN3):c.754G>A (p.Glu252Lys)	MATN3 (E252K)	Single nucleotide variant (missense variant)	Connective tissue disorder +3 more	GBenign
Select item 195170	NM_002381.5(MATN3):c.615G>A (p.Glu205=)	MATN3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 3032554	NM_002381.5(MATN3):c.449del (p.Val150fs)	MATN3 (V150fs)	Deletion (frameshift variant)	MATN3-related disorder	GUncertain significance
Select item 195169	NM_002381.5(MATN3):c.447C>T (p.Ala149=)	MATN3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2633402	NM_002381.5(MATN3):c.425A>G (p.Asp142Gly)	MATN3 (D142G)	Single nucleotide variant (missense variant)	MATN3-related disorder	GUncertain significance
Select item 333427	NM_002381.5(MATN3):c.330C>T (p.Ile110=)	MATN3	Single nucleotide variant (synonymous variant)	MATN3-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 3032470	NM_002381.5(MATN3):c.230G>C (p.Cys77Ser)	MATN3 (C77S)	Single nucleotide variant (missense variant)	MATN3-related disorder	GUncertain significance