ClinVar for MedGen (Select 335542) - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3069182	NM_002381.5(MATN3):c.280G>A (p.Val94Ile)	MATN3 (V94I)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 5	GUncertain significance
Select item 3068089	NM_002381.5(MATN3):c.709C>T (p.Pro237Ser)	MATN3 (P237S)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 5	GUncertain significance
Select item 3065484	NM_002381.5(MATN3):c.572C>A (p.Ala191Asp)	MATN3 (A191D)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 5	GUncertain significance
Select item 2580217	NM_002381.5(MATN3):c.302A>G (p.Lys101Arg)	MATN3 (K101R)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 5	GUncertain significance
Select item 1683458	NM_002381.5(MATN3):c.368C>T (p.Ala123Val)	MATN3 (A123V)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 5	GLikely pathogenic
Select item 1329477	NM_002381.5(MATN3):c.284G>A (p.Arg95Gln)	MATN3 (R95Q)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 5	GUncertain significance
Select item 1299496	NC_000002.12:g.19998776_20009244dup	MATN3, WDR35-DT	Duplication	Multiple epiphyseal dysplasia type 5	GPathogenic
Select item 1228375	NM_002381.5(MATN3):c.477C>T (p.Gly159=)	MATN3	Single nucleotide variant (synonymous variant)	Multiple epiphyseal dysplasia type 5	GUncertain significance
Select item 898677	NM_002381.5(MATN3):c.150C>T (p.Arg50=)	MATN3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 898676	NM_002381.5(MATN3):c.160C>A (p.Pro54Thr)	MATN3 (P54T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 898675	NM_002381.5(MATN3):c.180G>T (p.Ala60=)	MATN3	Single nucleotide variant (synonymous variant)	Multiple epiphyseal dysplasia type 5	GUncertain significance
Select item 898674	NM_002381.5(MATN3):c.185C>T (p.Ala62Val)	MATN3 (A62V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 898673	NM_002381.5(MATN3):c.197G>C (p.Ser66Thr)	MATN3 (S66T)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 5	GUncertain significance
Select item 898414	NM_002381.5(MATN3):c.733G>A (p.Val245Met)	MATN3 (V245M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 898413	NM_002381.5(MATN3):c.762T>G (p.Leu254=)	MATN3	Single nucleotide variant (synonymous variant)	Multiple epiphyseal dysplasia type 5	GUncertain significance
Select item 898329	NM_002381.5(MATN3):c.1406-8C>T	MATN3, WDR35-DT	Single nucleotide variant (intron variant)	Multiple epiphyseal dysplasia type 5	GUncertain significance
Select item 898328	NM_002381.5(MATN3):c.*74G>A	MATN3, WDR35-DT	Single nucleotide variant (3 prime UTR variant)	Multiple epiphyseal dysplasia type 5	GUncertain significance
Select item 898327	NM_002381.5(MATN3):c.*152A>T	MATN3, WDR35-DT	Single nucleotide variant (3 prime UTR variant)	Multiple epiphyseal dysplasia type 5	GUncertain significance
Select item 898326	NM_002381.5(MATN3):c.*211A>C	MATN3, WDR35-DT	Single nucleotide variant (3 prime UTR variant)	Multiple epiphyseal dysplasia type 5	GUncertain significance
Select item 897313	NM_002381.5(MATN3):c.275G>A (p.Arg92His)	MATN3 (R92H)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 5	GLikely benign
Select item 897165	NM_002381.5(MATN3):c.*312T>A	MATN3, WDR35-DT	Single nucleotide variant (3 prime UTR variant)	Multiple epiphyseal dysplasia type 5	GUncertain significance
Select item 897164	NM_002381.5(MATN3):c.*749T>G	MATN3, WDR35-DT	Single nucleotide variant (3 prime UTR variant)	Multiple epiphyseal dysplasia type 5	GUncertain significance
Select item 897163	NM_002381.5(MATN3):c.*759C>T	MATN3, WDR35-DT	Single nucleotide variant (3 prime UTR variant)	Multiple epiphyseal dysplasia type 5	GBenign
Select item 897162	NM_002381.5(MATN3):c.*955G>A	MATN3, WDR35-DT	Single nucleotide variant (3 prime UTR variant)	Multiple epiphyseal dysplasia type 5	GUncertain significance
Select item 897161	NM_002381.5(MATN3):c.*989C>G	MATN3, WDR35-DT	Single nucleotide variant (3 prime UTR variant)	Multiple epiphyseal dysplasia type 5	GUncertain significance
Select item 897160	NM_002381.5(MATN3):c.*996A>G	MATN3, WDR35-DT	Single nucleotide variant (3 prime UTR variant)	Multiple epiphyseal dysplasia type 5	GUncertain significance
Select item 897159	NM_002381.5(MATN3):c.*1044A>C	MATN3, WDR35-DT	Single nucleotide variant (3 prime UTR variant)	Multiple epiphyseal dysplasia type 5	GUncertain significance
Select item 896819	NM_002381.5(MATN3):c.304G>T (p.Val102Leu)	MATN3 (V102L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 896818	NM_002381.5(MATN3):c.477C>G (p.Gly159=)	MATN3	Single nucleotide variant (synonymous variant)	Multiple epiphyseal dysplasia type 5	GUncertain significance
Select item 896817	NM_002381.5(MATN3):c.514G>A (p.Glu172Lys)	MATN3 (E172K)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 5	GUncertain significance
Select item 896761	NM_002381.5(MATN3):c.822G>A (p.Gln274=)	MATN3, WDR35-DT	Single nucleotide variant (synonymous variant)	Multiple epiphyseal dysplasia type 5	GUncertain significance
Select item 896760	NM_002381.5(MATN3):c.906A>G (p.Lys302=)	MATN3, WDR35-DT	Single nucleotide variant (synonymous variant)	Multiple epiphyseal dysplasia type 5	GUncertain significance
Select item 895423	NM_002381.5(MATN3):c.523A>C (p.Thr175Pro)	MATN3 (T175P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 895422	NM_002381.5(MATN3):c.524C>A (p.Thr175Lys)	MATN3 (T175K)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 5	GUncertain significance
Select item 895350	NM_002381.5(MATN3):c.1065T>C (p.Gly355=)	MATN3, WDR35-DT	Single nucleotide variant (synonymous variant)	Multiple epiphyseal dysplasia type 5 +1 more	GConflicting classifications of pathogenicity
Select item 895349	NM_002381.5(MATN3):c.1085T>C (p.Ile362Thr)	MATN3, WDR35-DT (I362T)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 5	GUncertain significance
Select item 895348	NM_002381.5(MATN3):c.1114C>A (p.His372Asn)	MATN3, WDR35-DT (H372N)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 5	GUncertain significance
Select item 801652	NM_002381.5(MATN3):c.659T>C (p.Val220Ala)	MATN3 (V220A)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 5	GUncertain significance
Select item 739482	NM_002381.5(MATN3):c.90C>T (p.Pro30=)	MATN3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 720237	NM_002381.5(MATN3):c.223+8C>A	MATN3	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 709045	NM_002381.5(MATN3):c.945C>T (p.His315=)	MATN3, WDR35-DT	Single nucleotide variant (synonymous variant)	Connective tissue disorder +2 more	GLikely benign
Select item 631839	NM_002381.5(MATN3):c.541C>T (p.Arg181Ter)	MATN3 (R181*)	Single nucleotide variant (nonsense)	Multiple epiphyseal dysplasia type 5	GUncertain significance
Select item 593099	NM_002381.5(MATN3):c.526G>T (p.Val176Leu)	MATN3 (V176L)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, matrilin-3 type +3 more	GUncertain significance
Select item 560181	NM_002381.5(MATN3):c.224-2153_1168+903dup	WDR35-DT, MATN3	Duplication (splice acceptor variant +1 more)	Multiple epiphyseal dysplasia type 5	GLikely pathogenic
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 333428	NM_002381.5(MATN3):c.279C>T (p.Ser93=)	MATN3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 333427	NM_002381.5(MATN3):c.330C>T (p.Ile110=)	MATN3	Single nucleotide variant (synonymous variant)	Connective tissue disorder +3 more	GConflicting classifications of pathogenicity
Select item 333426	NM_002381.5(MATN3):c.349C>T (p.Pro117Ser)	MATN3 (P117S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 333425	NM_002381.5(MATN3):c.354C>T (p.Ala118=)	MATN3	Single nucleotide variant (synonymous variant)	Connective tissue disorder +2 more	GBenign/Likely benign
Select item 333423	NM_002381.5(MATN3):c.664G>A (p.Val222Met)	MATN3 (V222M)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 333422	NM_002381.5(MATN3):c.671G>A (p.Arg224Gln)	MATN3 (R224Q)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 5 +2 more	GUncertain significance
Select item 333411	NM_002381.5(MATN3):c.*44C>G	MATN3, WDR35-DT	Single nucleotide variant (3 prime UTR variant)	Multiple epiphyseal dysplasia type 5	GUncertain significance
Select item 333410	NM_002381.5(MATN3):c.*176C>T	MATN3, WDR35 +1 more	Single nucleotide variant (3 prime UTR variant)	Short rib-polydactyly syndrome +4 more	GBenign
Select item 333409	NM_002381.5(MATN3):c.*660G>A	MATN3, WDR35-DT	Single nucleotide variant (3 prime UTR variant)	Multiple epiphyseal dysplasia type 5	GUncertain significance
Select item 287871	NM_002381.5(MATN3):c.187T>G (p.Ser63Ala)	MATN3 (S63A)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
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 283602	NM_002381.5(MATN3):c.62T>G (p.Leu21Arg)	MATN3 (L21R)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 5 +3 more	GConflicting classifications of pathogenicity
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 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 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 198148	NM_002381.5(MATN3):c.1169-10G>A	MATN3, WDR35-DT	Single nucleotide variant (intron variant)	Connective tissue disorder +3 more	GBenign
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
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 195169	NM_002381.5(MATN3):c.447C>T (p.Ala149=)	MATN3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
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 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 7545	NM_002381.5(MATN3):c.209G>A (p.Arg70His)	MATN3 (R70H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 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 7541	NM_002381.5(MATN3):c.361C>T (p.Arg121Trp)	MATN3 (R121W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
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

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Items: 71