MATN3[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1277469	NM_002381.5(MATN3):c.790+81_790+82insTCTT	MATN3	Insertion (intron variant)	not provided	GBenign
Select item 1668649	NM_002381.5(MATN3):c.790+11C>T	MATN3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015181	NM_002381.5(MATN3):c.790+1G>T	MATN3	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1980948	NM_002381.5(MATN3):c.789_790dup (p.Ala264fs)	MATN3 (A264fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2007858	NM_002381.5(MATN3):c.788G>T (p.Cys263Phe)	MATN3 (C263F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2889608	NM_002381.5(MATN3):c.784T>C (p.Phe262Leu)	MATN3 (F262L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1591841	NM_002381.5(MATN3):c.759A>G (p.Lys253=)	MATN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1347350	NM_002381.5(MATN3):c.757A>G (p.Lys253Glu)	MATN3 (K253E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 258648	NM_002381.5(MATN3):c.754G>A (p.Glu252Lys)	MATN3 (E252K)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 2156741	NM_002381.5(MATN3):c.752T>C (p.Ile251Thr)	MATN3 (I251T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303748	NM_002381.5(MATN3):c.733G>T (p.Val245Leu)	MATN3 (V245L)	Single nucleotide variant (missense variant)	not provided	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 1642858	NM_002381.5(MATN3):c.732C>T (p.Tyr244=)	MATN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2261438	NM_002381.5(MATN3):c.696G>A (p.Met232Ile)	MATN3 (M232I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539371	NM_002381.5(MATN3):c.695T>C (p.Met232Thr)	MATN3 (M232T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2049012	NM_002381.5(MATN3):c.694A>T (p.Met232Leu)	MATN3 (M232L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1675216	NM_002381.5(MATN3):c.693G>C (p.Lys231Asn)	MATN3 (K231N)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia	Gnot provided
Select item 1631599	NM_002381.5(MATN3):c.684G>A (p.Ala228=)	MATN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1565669	NM_002381.5(MATN3):c.683C>T (p.Ala228Val)	MATN3 (A228V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2270468	NM_002381.5(MATN3):c.671G>T (p.Arg224Leu)	MATN3 (R224L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1987941	NM_002381.5(MATN3):c.670C>T (p.Arg224Trp)	MATN3 (R224W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1646072	NM_002381.5(MATN3):c.663C>T (p.Gly221=)	MATN3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
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 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 2032249	NM_002381.5(MATN3):c.654T>C (p.Tyr218=)	MATN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 843499	NM_002381.5(MATN3):c.653A>G (p.Tyr218Cys)	MATN3 (Y218C)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 5 +1 more	GConflicting classifications of pathogenicity
Select item 1675215	NM_002381.5(MATN3):c.652T>A (p.Tyr218Asn)	MATN3 (Y218N)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia	Gnot provided
Select item 2820478	NM_002381.5(MATN3):c.650_651delinsAA (p.Leu217Gln)	MATN3 (L217Q)	Indel (missense variant)	not provided	GUncertain significance
Select item 2650700	NM_002381.5(MATN3):c.651C>T (p.Leu217=)	MATN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2802166	NM_002381.5(MATN3):c.645T>G (p.Ile215Met)	MATN3 (I215M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2019802	NM_002381.5(MATN3):c.643dup (p.Ile215fs)	MATN3 (I215fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2772820	NM_002381.5(MATN3):c.641G>T (p.Gly214Val)	MATN3 (G214V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 747791	NM_002381.5(MATN3):c.636A>G (p.Ala212=)	MATN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1224469	NM_002381.5(MATN3):c.626G>A (p.Arg209Gln)	MATN3 (R209Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1011244	NM_002381.5(MATN3):c.626G>C (p.Arg209Pro)	MATN3 (R209P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2764764	NM_002381.5(MATN3):c.621_624dup (p.Arg209fs)	MATN3 (R209fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2100421	NM_002381.5(MATN3):c.625C>G (p.Arg209Gly)	MATN3 (R209G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1987142	NM_002381.5(MATN3):c.625C>T (p.Arg209Trp)	MATN3 (R209W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1641566	NM_002381.5(MATN3):c.621G>A (p.Ala207=)	MATN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2800822	NM_002381.5(MATN3):c.620C>G (p.Ala207Gly)	MATN3 (A207G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1984059	NM_002381.5(MATN3):c.620C>T (p.Ala207Val)	MATN3 (A207V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 195170	NM_002381.5(MATN3):c.615G>A (p.Glu205=)	MATN3	Single nucleotide variant (synonymous variant)	Multiple epiphyseal dysplasia type 5 +2 more	GBenign
Select item 1675214	NM_002381.5(MATN3):c.584C>A (p.Thr195Lys)	MATN3 (T195K)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia	Gnot provided
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 2089476	NM_002381.5(MATN3):c.578T>C (p.Ile193Thr)	MATN3 (I193T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1675212	NM_002381.5(MATN3):c.575T>A (p.Ile192Asn)	MATN3 (I192N)	Single nucleotide variant (missense variant)	Connective tissue disorder	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 2896081	NM_002381.5(MATN3):c.542G>A (p.Arg181Gln)	MATN3 (R181Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1705083	NM_002381.5(MATN3):c.541C>G (p.Arg181Gly)	MATN3 (R181G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
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 1675211	NM_002381.5(MATN3):c.513_530del (p.Asp171_Val176del)	MATN3	Deletion (inframe_deletion)	Multiple epiphyseal dysplasia	Gnot provided
Select item 3000465	NM_002381.5(MATN3):c.526G>C (p.Val176Leu)	MATN3 (V176L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 593099	NM_002381.5(MATN3):c.526G>T (p.Val176Leu)	MATN3 (V176L)	Single nucleotide variant (missense variant)	not provided +3 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 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 2817963	NM_002381.5(MATN3):c.521T>C (p.Phe174Ser)	MATN3 (F174S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 853179	NM_002381.5(MATN3):c.520T>G (p.Phe174Val)	MATN3 (F174V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2411438	NM_002381.5(MATN3):c.518C>T (p.Ala173Val)	MATN3 (A173V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 195171	NM_002381.5(MATN3):c.518C>A (p.Ala173Asp)	MATN3 (A173D)	Single nucleotide variant (missense variant)	not provided	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 708632	NM_002381.5(MATN3):c.513C>T (p.Asp171=)	MATN3	Single nucleotide variant (synonymous variant)	Connective tissue disorder +1 more	GConflicting classifications of pathogenicity
Select item 1387604	NM_002381.5(MATN3):c.497T>C (p.Ile166Thr)	MATN3 (I166T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1095869	NM_002381.5(MATN3):c.480C>G (p.Thr160=)	MATN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 1675210	NM_002381.5(MATN3):c.437T>G (p.Leu146Arg)	MATN3 (L146R)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia	Gnot provided
Select item 1062861	NM_002381.5(MATN3):c.437T>C (p.Leu146Pro)	MATN3 (L146P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2724111	NM_002381.5(MATN3):c.416C>A (p.Ala139Asp)	MATN3 (A139D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1060234	NM_002381.5(MATN3):c.416C>G (p.Ala139Gly)	MATN3 (A139G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1675209	NM_002381.5(MATN3):c.400G>A (p.Glu134Lys)	MATN3 (E134K)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1964390	NM_002381.5(MATN3):c.399C>T (p.Ile133=)	MATN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987567	NM_002381.5(MATN3):c.384T>C (p.Ala128=)	MATN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 1023438	NM_002381.5(MATN3):c.368C>A (p.Ala123Glu)	MATN3 (A123E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3021186	NM_002381.5(MATN3):c.364G>A (p.Val122Met)	MATN3 (V122M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2963211	NM_002381.5(MATN3):c.360G>A (p.Thr120=)	MATN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 65664	NM_002381.5(MATN3):c.359C>T (p.Thr120Met)	MATN3 (T120M)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, matrilin-3 type +2 more	GPathogenic/Likely pathogenic
Select item 1506836	NM_002381.5(MATN3):c.355G>A (p.Asp119Asn)	MATN3 (D119N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 333425	NM_002381.5(MATN3):c.354C>T (p.Ala118=)	MATN3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 333426	NM_002381.5(MATN3):c.349C>T (p.Pro117Ser)	MATN3 (P117S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1309878	NM_002381.5(MATN3):c.338T>G (p.Leu113Arg)	MATN3 (L113R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1004236	NM_002381.5(MATN3):c.332A>T (p.Asp111Val)	MATN3 (D111V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 333427	NM_002381.5(MATN3):c.330C>T (p.Ile110=)	MATN3	Single nucleotide variant (synonymous variant)	Connective tissue disorder +2 more	GConflicting classifications of pathogenicity
Select item 1695676	NM_002381.5(MATN3):c.326T>A (p.Ile109Lys)	MATN3 (I109K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1019269	NM_002381.5(MATN3):c.323G>C (p.Arg108Pro)	MATN3 (R108P)	Single nucleotide variant (missense variant)	not provided	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 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 2964172	NM_002381.5(MATN3):c.295T>C (p.Phe99Leu)	MATN3 (F99L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984681	NM_002381.5(MATN3):c.294A>G (p.Glu98=)	MATN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3293462	NM_002381.5(MATN3):c.286C>A (p.Pro96Thr)	MATN3 (P96T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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

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