ClinVar for MedGen (Select 78550) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065038	NM_000493.4(COL10A1):c.1845dup (p.Lys616Ter)	COL10A1, NT5DC1 (K616*)	Duplication (nonsense +1 more)	Metaphyseal chondrodysplasia, Schmid type	GLikely pathogenic
Select item 2440195	NM_000493.4(COL10A1):c.1472C>T (p.Pro491Leu)	COL10A1, NT5DC1 (P491L)	Single nucleotide variant (missense variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GUncertain significance
Select item 2440194	NM_000493.4(COL10A1):c.865A>G (p.Ile289Val)	COL10A1, NT5DC1 (I289V)	Single nucleotide variant (missense variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GUncertain significance
Select item 2440193	NM_000493.4(COL10A1):c.1952G>T (p.Trp651Leu)	COL10A1, NT5DC1 (W651L)	Single nucleotide variant (missense variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GUncertain significance
Select item 2068204	NM_000493.4(COL10A1):c.721G>C (p.Gly241Arg)	COL10A1, NT5DC1 (G241R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1723872	NM_000493.4(COL10A1):c.1833G>A (p.Trp611Ter)	COL10A1, NT5DC1 (W611*)	Single nucleotide variant (nonsense +1 more)	Metaphyseal chondrodysplasia, Schmid type	GPathogenic
Select item 1704250	NM_000493.4(COL10A1):c.1900del (p.Asp634fs)	COL10A1, NT5DC1 (D634fs)	Deletion (frameshift variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GPathogenic
Select item 1699391	NM_000493.4(COL10A1):c.1637T>A (p.Val546Glu)	COL10A1, NT5DC1 (V546E)	Single nucleotide variant (missense variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GUncertain significance
Select item 1685266	NM_000493.4(COL10A1):c.1772G>A (p.Cys591Tyr)	COL10A1, NT5DC1 (C591Y)	Single nucleotide variant (missense variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GLikely pathogenic
Select item 1683461	NM_000493.4(COL10A1):c.1772G>T (p.Cys591Phe)	COL10A1, NT5DC1 (C591F)	Single nucleotide variant (missense variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GPathogenic
Select item 1683460	NM_000493.4(COL10A1):c.1853_1866del (p.Gly618fs)	COL10A1, NT5DC1 (G618fs)	Deletion (frameshift variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GPathogenic
Select item 1679893	NM_000493.4(COL10A1):c.1951_1952dup (p.Trp651fs)	COL10A1, NT5DC1 (W651fs)	Microsatellite (frameshift variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GPathogenic
Select item 1679882	NM_000493.4(COL10A1):c.1955T>G (p.Leu652Arg)	COL10A1, NT5DC1 (L652R)	Single nucleotide variant (missense variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GLikely pathogenic
Select item 1427331	NM_000493.4(COL10A1):c.1867_1876del (p.Tyr623fs)	NT5DC1, COL10A1 (Y623fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1333730	NM_000493.4(COL10A1):c.1775dup (p.Ile593fs)	COL10A1, NT5DC1 (I593fs)	Duplication (frameshift variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GLikely pathogenic
Select item 1062777	NM_000493.4(COL10A1):c.1989C>A (p.Tyr663Ter)	COL10A1, NT5DC1 (Y663*)	Single nucleotide variant (nonsense +1 more)	Metaphyseal chondrodysplasia, Schmid type +1 more	GPathogenic
Select item 1047790	NM_000493.4(COL10A1):c.1994_1995del (p.Ser664_Ser665insTer)	COL10A1, NT5DC1	Microsatellite (nonsense +1 more)	not provided	GPathogenic
Select item 997992	NM_000493.4(COL10A1):c.1843T>G (p.Tyr615Asp)	COL10A1, NT5DC1 (Y615D)	Single nucleotide variant (missense variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GLikely pathogenic
Select item 988566	NM_000493.4(COL10A1):c.1952G>A (p.Trp651Ter)	NT5DC1, COL10A1 (W651*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 976106	NM_000493.4(COL10A1):c.1955_1956dup (p.Gln653fs)	COL10A1, NT5DC1 (Q653fs)	Duplication (frameshift variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GLikely pathogenic
Select item 931658	NM_000493.4(COL10A1):c.1705A>G (p.Ile569Val)	COL10A1, NT5DC1 (I569V)	Single nucleotide variant (missense variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GUncertain significance
Select item 907221	NM_000493.4(COL10A1):c.772C>T (p.Arg258Ter)	COL10A1, NT5DC1 (R258*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 907220	NM_000493.4(COL10A1):c.924A>C (p.Gly308=)	COL10A1, NT5DC1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 907161	NM_000493.4(COL10A1):c.*292A>G	COL10A1, NT5DC1	Single nucleotide variant (intron variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GUncertain significance
Select item 907160	NM_000493.4(COL10A1):c.*324A>G	COL10A1, NT5DC1	Single nucleotide variant (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GUncertain significance
Select item 907159	NM_000493.4(COL10A1):c.*428G>A	COL10A1, NT5DC1	Single nucleotide variant (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GUncertain significance
Select item 906277	NM_000493.4(COL10A1):c.60T>C (p.Phe20=)	COL10A1, NT5DC1	Single nucleotide variant (synonymous variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GUncertain significance
Select item 906276	NM_000493.4(COL10A1):c.80T>G (p.Met27Arg)	COL10A1, NT5DC1 (M27R)	Single nucleotide variant (missense variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GUncertain significance
Select item 906224	NM_000493.4(COL10A1):c.1349C>A (p.Thr450Asn)	COL10A1, NT5DC1 (T450N)	Single nucleotide variant (missense variant +1 more)	Metaphyseal chondrodysplasia, Schmid type +1 more	GConflicting classifications of pathogenicity
Select item 906155	NM_000493.4(COL10A1):c.*455T>C	COL10A1, NT5DC1	Single nucleotide variant (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GUncertain significance
Select item 906154	NM_000493.4(COL10A1):c.*572T>C	COL10A1, NT5DC1	Single nucleotide variant (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GUncertain significance
Select item 906153	NM_000493.4(COL10A1):c.*900G>A	COL10A1, NT5DC1	Single nucleotide variant (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GUncertain significance
Select item 905765	NM_000493.4(COL10A1):c.323C>G (p.Pro108Arg)	COL10A1, NT5DC1 (P108R)	Single nucleotide variant (intron variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GUncertain significance
Select item 905764	NM_000493.4(COL10A1):c.357G>C (p.Glu119Asp)	COL10A1, NT5DC1 (E119D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 905710	NM_000493.4(COL10A1):c.1759G>A (p.Gly587Arg)	COL10A1, NT5DC1 (G587R)	Single nucleotide variant (missense variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GLikely benign
Select item 905709	NM_000493.4(COL10A1):c.1875T>C (p.Tyr625=)	COL10A1, NT5DC1	Single nucleotide variant (synonymous variant +1 more)	Metaphyseal chondrodysplasia, Schmid type +1 more	GBenign/Likely benign
Select item 905644	NM_000493.4(COL10A1):c.*1038C>T	COL10A1, NT5DC1	Single nucleotide variant (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GUncertain significance
Select item 905643	NM_000493.4(COL10A1):c.*1085G>A	COL10A1, NT5DC1	Single nucleotide variant (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GUncertain significance
Select item 905642	NM_000493.4(COL10A1):c.*1145A>G	COL10A1, NT5DC1	Single nucleotide variant (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GUncertain significance
Select item 903876	NM_000493.4(COL10A1):c.381A>T (p.Gly127=)	COL10A1, NT5DC1	Single nucleotide variant (synonymous variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GLikely benign
Select item 903875	NM_000493.4(COL10A1):c.567G>A (p.Gly189=)	COL10A1, NT5DC1	Single nucleotide variant (synonymous variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GUncertain significance
Select item 903874	NM_000493.4(COL10A1):c.625G>A (p.Gly209Ser)	COL10A1, NT5DC1 (G209S)	Single nucleotide variant (missense variant +1 more)	COL10A1-related condition +2 more	GBenign
Select item 903806	NM_000493.4(COL10A1):c.*52C>T	COL10A1, NT5DC1	Single nucleotide variant (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GUncertain significance
Select item 903805	NM_000493.4(COL10A1):c.*137C>T	COL10A1, NT5DC1	Single nucleotide variant (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GUncertain significance
Select item 903804	NM_000493.4(COL10A1):c.*151C>A	COL10A1, NT5DC1	Single nucleotide variant (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GBenign
Select item 903803	NM_000493.4(COL10A1):c.*185T>G	COL10A1, NT5DC1	Single nucleotide variant (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GUncertain significance
Select item 843130	NM_000493.4(COL10A1):c.158T>G (p.Ile53Arg)	COL10A1, NT5DC1 (I53R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 802257	NM_000493.4(COL10A1):c.1948_1953del (p.Val650_Trp651del)	COL10A1, NT5DC1	Deletion (inframe_deletion +1 more)	Metaphyseal chondrodysplasia, Schmid type	GLikely pathogenic
Select item 800885	NM_000493.4(COL10A1):c.1771T>G (p.Cys591Gly)	COL10A1, NT5DC1 (C591G)	Single nucleotide variant (missense variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GLikely pathogenic
Select item 745218	NM_000493.4(COL10A1):c.1806C>T (p.His602=)	NT5DC1, COL10A1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 734392	NM_000493.4(COL10A1):c.2040G>C (p.Met680Ile)	COL10A1, NT5DC1 (M680I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 730824	NM_000493.4(COL10A1):c.1144C>T (p.Pro382Ser)	COL10A1, NT5DC1 (P382S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 548529	NM_000493.4(COL10A1):c.1049G>A (p.Gly350Asp)	COL10A1, NT5DC1 (G350D)	Single nucleotide variant (missense variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GUncertain significance
Select item 547009	NM_000493.4(COL10A1):c.1267C>T (p.Pro423Ser)	COL10A1, NT5DC1 (P423S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 355116	NM_000493.4(COL10A1):c.-16+7G>A	COL10A1, NT5DC1	Single nucleotide variant (intron variant)	Metaphyseal chondrodysplasia, Schmid type	GUncertain significance
Select item 355115	NM_000493.4(COL10A1):c.43T>G (p.Leu15Val)	COL10A1, NT5DC1 (L15V)	Single nucleotide variant (missense variant +1 more)	Metaphyseal chondrodysplasia, Schmid type +1 more	GBenign/Likely benign
Select item 355114	NM_000493.4(COL10A1):c.71G>A (p.Arg24Gln)	NT5DC1, COL10A1 (R24Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 355113	NM_000493.4(COL10A1):c.150T>A (p.Ser50Arg)	COL10A1, NT5DC1 (S50R)	Single nucleotide variant (missense variant +1 more)	COL10A1-related condition +3 more	GBenign/Likely benign
Select item 355112	NM_000493.4(COL10A1):c.154+13G>C	COL10A1, NT5DC1	Single nucleotide variant (intron variant)	Metaphyseal chondrodysplasia, Schmid type +1 more	GBenign
Select item 355110	NM_000493.4(COL10A1):c.212G>A (p.Arg71Gln)	COL10A1, NT5DC1 (R71Q)	Single nucleotide variant (missense variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GUncertain significance
Select item 355109	NM_000493.4(COL10A1):c.256G>A (p.Gly86Arg)	COL10A1, NT5DC1 (G86R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 355108	NM_000493.4(COL10A1):c.273A>G (p.Gln91=)	COL10A1, NT5DC1	Single nucleotide variant (synonymous variant +1 more)	Metaphyseal chondrodysplasia, Schmid type +1 more	GBenign
Select item 355107	NM_000493.4(COL10A1):c.382G>A (p.Asp128Asn)	COL10A1, NT5DC1 (D128N)	Single nucleotide variant (missense variant +1 more)	COL10A1-related condition +2 more	GBenign
Select item 355106	NM_000493.4(COL10A1):c.430C>T (p.Pro144Ser)	COL10A1, NT5DC1 (P144S)	Single nucleotide variant (missense variant +1 more)	Metaphyseal chondrodysplasia, Schmid type +2 more	GUncertain significance
Select item 355105	NM_000493.4(COL10A1):c.456T>C (p.Ile152=)	COL10A1, NT5DC1	Single nucleotide variant (synonymous variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GLikely benign
Select item 355104	NM_000493.4(COL10A1):c.460G>A (p.Val154Met)	COL10A1, NT5DC1 (V154M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 355103	NM_000493.4(COL10A1):c.593G>A (p.Arg198His)	COL10A1, NT5DC1 (R198H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 355102	NM_000493.4(COL10A1):c.633A>G (p.Thr211=)	COL10A1, NT5DC1	Single nucleotide variant (synonymous variant +1 more)	Metaphyseal chondrodysplasia, Schmid type +1 more	GConflicting classifications of pathogenicity
Select item 355101	NM_000493.4(COL10A1):c.773G>A (p.Arg258Gln)	COL10A1, NT5DC1 (R258Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 355100	NM_000493.4(COL10A1):c.982G>A (p.Ala328Thr)	COL10A1, NT5DC1 (A328T)	Single nucleotide variant (missense variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GUncertain significance
Select item 355099	NM_000493.4(COL10A1):c.1073C>T (p.Pro358Leu)	NT5DC1, COL10A1 (P358L)	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GUncertain significance
Select item 355098	NM_000493.4(COL10A1):c.1147G>A (p.Gly383Arg)	COL10A1, NT5DC1 (G383R)	Single nucleotide variant (missense variant +1 more)	Metaphyseal chondrodysplasia, Schmid type +1 more	GBenign
Select item 355097	NM_000493.4(COL10A1):c.1181C>G (p.Pro394Arg)	NT5DC1, COL10A1 (P394R)	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GBenign
Select item 355096	NM_000493.4(COL10A1):c.1255G>A (p.Gly419Ser)	COL10A1, NT5DC1 (G419S)	Single nucleotide variant (missense variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GUncertain significance
Select item 355095	NM_000493.4(COL10A1):c.1328G>A (p.Gly443Asp)	COL10A1, NT5DC1 (G443D)	Single nucleotide variant (missense variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GUncertain significance
Select item 355094	NM_000493.4(COL10A1):c.1350T>C (p.Thr450=)	COL10A1, NT5DC1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 355093	NM_000493.4(COL10A1):c.1420C>T (p.Pro474Ser)	COL10A1, NT5DC1 (P474S)	Single nucleotide variant (missense variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GUncertain significance
Select item 355092	NM_000493.4(COL10A1):c.1611C>T (p.Thr537=)	COL10A1, NT5DC1	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GLikely benign
Select item 355091	NM_000493.4(COL10A1):c.1851T>C (p.Asn617=)	COL10A1, NT5DC1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 355090	NM_000493.4(COL10A1):c.2038A>G (p.Met680Val)	COL10A1, NT5DC1 (M680V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 355087	NM_000493.4(COL10A1):c.*157A>G	COL10A1, NT5DC1	Single nucleotide variant (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GBenign
Select item 355086	NM_000493.4(COL10A1):c.*196T>C	COL10A1, NT5DC1	Single nucleotide variant (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GBenign
Select item 355085	NM_000493.4(COL10A1):c.*246T>C	COL10A1, NT5DC1	Single nucleotide variant (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia, Schmid type +1 more	GBenign/Likely benign
Select item 355084	NM_000493.4(COL10A1):c.*291C>T	COL10A1, NT5DC1	Single nucleotide variant (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GLikely benign
Select item 355083	NM_000493.4(COL10A1):c.*315A>T	COL10A1, NT5DC1	Single nucleotide variant (intron variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GBenign
Select item 355081	NM_000493.4(COL10A1):c.*317T>A	COL10A1, NT5DC1	Single nucleotide variant (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GBenign
Select item 355080	NM_000493.4(COL10A1):c.*318A>T	COL10A1, NT5DC1	Single nucleotide variant (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GUncertain significance
Select item 355077	NM_000493.4(COL10A1):c.*416G>A	COL10A1, NT5DC1	Single nucleotide variant (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GBenign
Select item 355076	NM_000493.4(COL10A1):c.*511T>C	COL10A1, NT5DC1	Single nucleotide variant (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GUncertain significance
Select item 355074	NM_000493.4(COL10A1):c.*653T>C	COL10A1, NT5DC1	Single nucleotide variant (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GBenign
Select item 355073	NM_000493.4(COL10A1):c.*674A>G	COL10A1, NT5DC1	Single nucleotide variant (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GUncertain significance
Select item 355072	NM_000493.4(COL10A1):c.*790T>G	COL10A1, NT5DC1	Single nucleotide variant (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GBenign
Select item 355070	NM_000493.4(COL10A1):c.*1025C>T	COL10A1, NT5DC1	Single nucleotide variant (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GBenign
Select item 355069	NM_000493.4(COL10A1):c.*1026G>A	COL10A1, NT5DC1	Single nucleotide variant (intron variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GBenign
Select item 355068	NM_000493.4(COL10A1):c.*1042A>G	COL10A1, NT5DC1	Single nucleotide variant (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GBenign
Select item 355067	NM_000493.4(COL10A1):c.*1106G>A	COL10A1, NT5DC1	Single nucleotide variant (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GBenign
Select item 281436	NM_000493.4(COL10A1):c.1016C>T (p.Pro339Leu)	COL10A1, NT5DC1 (P339L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 256262	NM_000493.4(COL10A1):c.80T>C (p.Met27Thr)	NT5DC1, COL10A1 (M27T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 256261	NM_000493.4(COL10A1):c.1809G>C (p.Val603=)	NT5DC1, COL10A1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 256260	NM_000493.4(COL10A1):c.1633G>C (p.Gly545Arg)	COL10A1, NT5DC1 (G545R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign

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