ClinVar for MedGen (Select 335850) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068616	NM_012120.3(CD2AP):c.1704A>C (p.Glu568Asp)	CD2AP (E568D)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 3066210	NM_012120.3(CD2AP):c.1108+1G>T	CD2AP	Single nucleotide variant (splice donor variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GLikely pathogenic
Select item 3065595	NM_012120.3(CD2AP):c.30T>G (p.Tyr10Ter)	CD2AP (Y10*)	Single nucleotide variant (nonsense)	Focal segmental glomerulosclerosis 3, susceptibility to	GLikely pathogenic
Select item 3065370	NM_012120.3(CD2AP):c.1022C>T (p.Pro341Leu)	CD2AP (P341L)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 2439815	NM_012120.3(CD2AP):c.721C>A (p.Pro241Thr)	CD2AP (P241T)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 1638570	NM_012120.3(CD2AP):c.5-20G>A	CD2AP	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 3, susceptibility to +1 more	GLikely benign
Select item 1539439	NM_012120.3(CD2AP):c.1633-8G>A	CD2AP	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1529235	NM_012120.3(CD2AP):c.1275-11dup	CD2AP	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1514673	NM_012120.3(CD2AP):c.1812C>T (p.His604=)	CD2AP	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 3, susceptibility to +1 more	GLikely benign
Select item 1472885	NM_012120.3(CD2AP):c.311T>A (p.Ile104Asn)	CD2AP (I104N)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 3, susceptibility to +1 more	GUncertain significance
Select item 1422021	NM_012120.3(CD2AP):c.551T>C (p.Leu184Ser)	CD2AP (L184S)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 3, susceptibility to +2 more	GUncertain significance
Select item 1352391	NM_012120.3(CD2AP):c.1756C>T (p.Leu586Phe)	CD2AP (L586F)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 3, susceptibility to +1 more	GUncertain significance
Select item 1179195	NM_012120.3(CD2AP):c.1742dup (p.Asn581fs)	CD2AP (N581fs)	Duplication (frameshift variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GPathogenic
Select item 1179189	NM_012120.3(CD2AP):c.250C>T (p.Arg84Ter)	CD2AP (R84*)	Single nucleotide variant (nonsense)	Focal segmental glomerulosclerosis 3, susceptibility to	GPathogenic
Select item 1170021	NM_012120.3(CD2AP):c.636A>T (p.Arg212=)	CD2AP	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 3, susceptibility to +1 more	GBenign/Likely benign
Select item 1164376	NM_012120.3(CD2AP):c.447C>T (p.Thr149=)	CD2AP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1027764	NM_012120.3(CD2AP):c.180_181del (p.Glu60fs)	CD2AP (E60fs)	Microsatellite (frameshift variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 1018891	NM_012120.3(CD2AP):c.1488G>A (p.Met496Ile)	CD2AP (M496I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1017628	NM_012120.3(CD2AP):c.521A>C (p.His174Pro)	CD2AP (H174P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 999719	NM_012120.3(CD2AP):c.26A>G (p.Asp9Gly)	CD2AP (D9G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 931125	NM_012120.3(CD2AP):c.764dup (p.Ser256fs)	CD2AP (S256fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 911666	NM_012120.3(CD2AP):c.*2117C>G	CD2AP	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 911665	NM_012120.3(CD2AP):c.*1918A>C	CD2AP	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GBenign
Select item 911607	NM_012120.3(CD2AP):c.*1G>A	CD2AP	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 911606	NM_012120.3(CD2AP):c.1594C>T (p.Pro532Ser)	CD2AP (P532S)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 911544	NM_012120.3(CD2AP):c.452A>G (p.Asn151Ser)	CD2AP (N151S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 911543	NM_012120.3(CD2AP):c.221G>T (p.Arg74Met)	CD2AP (R74M)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 911542	NM_012120.3(CD2AP):c.182C>T (p.Thr61Met)	CD2AP (T61M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 911541	NM_012120.3(CD2AP):c.165+13A>G	CD2AP	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 910449	NM_012120.3(CD2AP):c.*1017T>A	CD2AP	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GBenign
Select item 910448	NM_012120.3(CD2AP):c.*762A>G	CD2AP	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 910447	NM_012120.3(CD2AP):c.*706A>G	CD2AP	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 910394	NM_012120.3(CD2AP):c.1530+12T>G	CD2AP	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 3, susceptibility to +1 more	GBenign
Select item 910393	NM_012120.3(CD2AP):c.1164A>C (p.Pro388=)	CD2AP	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 910329	NM_012120.3(CD2AP):c.-69C>A	CD2AP	Single nucleotide variant (5 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 910328	NM_012120.3(CD2AP):c.-166A>G	CD2AP	Single nucleotide variant (5 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 909571	NM_012120.3(CD2AP):c.*2548G>A	CD2AP	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 909570	NM_012120.3(CD2AP):c.*2470C>A	CD2AP	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 909510	NM_012120.3(CD2AP):c.*549T>C	CD2AP	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 909509	NM_012120.3(CD2AP):c.*504A>G	CD2AP	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 909446	NM_012120.3(CD2AP):c.1148C>A (p.Ala383Glu)	CD2AP (A383E)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 909445	NM_012120.3(CD2AP):c.846T>C (p.Gly282=)	CD2AP	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 909444	NM_012120.3(CD2AP):c.757A>G (p.Lys253Glu)	CD2AP (K253E)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 908717	NM_012120.3(CD2AP):c.*2394A>G	CD2AP	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 908716	NM_012120.3(CD2AP):c.*2321C>G	CD2AP	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 908715	NM_012120.3(CD2AP):c.*2309T>G	CD2AP	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 908655	NM_012120.3(CD2AP):c.*326T>A	CD2AP	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 908654	NM_012120.3(CD2AP):c.*297T>A	CD2AP	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 908653	NM_012120.3(CD2AP):c.*166A>G	CD2AP	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 908652	NM_012120.3(CD2AP):c.*160A>G	CD2AP	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GBenign
Select item 908589	NM_012120.3(CD2AP):c.730-7A>G	CD2AP	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 908588	NM_012120.3(CD2AP):c.675G>A (p.Val225=)	CD2AP	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 908587	NM_012120.3(CD2AP):c.542-11T>C	CD2AP	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 847282	NM_012120.3(CD2AP):c.730C>T (p.Pro244Ser)	CD2AP (P244S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 830024	NM_012120.3(CD2AP):c.670T>C (p.Ser224Pro)	CD2AP (S224P)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 792041	NM_012120.3(CD2AP):c.1035T>A (p.Ala345=)	CD2AP	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 3, susceptibility to +1 more	GBenign/Likely benign
Select item 792040	NM_012120.3(CD2AP):c.42T>C (p.His14=)	CD2AP	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 3, susceptibility to +1 more	GBenign/Likely benign
Select item 738635	NM_012120.3(CD2AP):c.1641G>A (p.Val547=)	CD2AP	Single nucleotide variant (synonymous variant)	CD2AP-related condition +2 more	GLikely benign
Select item 738377	NM_012120.3(CD2AP):c.1696C>T (p.Pro566Ser)	CD2AP (P566S)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 3, susceptibility to +1 more	GLikely benign
Select item 726649	NM_012120.3(CD2AP):c.1014A>G (p.Pro338=)	CD2AP	Single nucleotide variant (synonymous variant)	CD2AP-related condition +2 more	GBenign/Likely benign
Select item 635481	NM_012120.3(CD2AP):c.1516A>G (p.Asn506Asp)	CD2AP (N506D)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 632488	NM_012120.3(CD2AP):c.1379del (p.Asp460fs)	CD2AP (D460fs)	Deletion (frameshift variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 522522	NM_012120.3(CD2AP):c.1045+1G>A	CD2AP	Single nucleotide variant (splice donor variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GPathogenic
Select item 402519	NM_012120.3(CD2AP):c.902A>T (p.Lys301Met)	CD2AP (K301M)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 3, susceptibility to +2 more	GUncertain significance
Select item 357234	NM_012120.3(CD2AP):c.*2759G>A	CD2AP	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GBenign
Select item 357233	NM_012120.3(CD2AP):c.*2705A>G	CD2AP	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 357232	NM_012120.3(CD2AP):c.*2449C>A	CD2AP	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 357231	NM_012120.3(CD2AP):c.*2445C>T	CD2AP	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 357230	NM_012120.3(CD2AP):c.*2369G>A	CD2AP	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 357229	NM_012120.3(CD2AP):c.*2355G>A	CD2AP	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GBenign
Select item 357228	NM_012120.3(CD2AP):c.*2339T>C	CD2AP	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GBenign
Select item 357227	NM_012120.3(CD2AP):c.*2241A>T	CD2AP	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GBenign
Select item 357226	NM_012120.3(CD2AP):c.*2232C>T	CD2AP	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 357224	NM_012120.3(CD2AP):c.*2118T>A	CD2AP	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 357222	NM_012120.3(CD2AP):c.*2039T>C	CD2AP	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GBenign
Select item 357221	NM_012120.3(CD2AP):c.*2037C>G	CD2AP	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 357220	NM_012120.3(CD2AP):c.*1927T>G	CD2AP	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 357219	NM_012120.3(CD2AP):c.*1606G>A	CD2AP	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 357216	NM_012120.3(CD2AP):c.*1208C>A	CD2AP	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GBenign
Select item 357215	NM_012120.3(CD2AP):c.*866C>T	CD2AP	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 357214	NM_012120.3(CD2AP):c.*828G>C	CD2AP	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GBenign
Select item 357213	NM_012120.3(CD2AP):c.*707G>A	CD2AP	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 357212	NM_012120.3(CD2AP):c.*652A>G	CD2AP	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 357211	NM_012120.3(CD2AP):c.*502A>G	CD2AP	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GBenign
Select item 357210	NM_012120.3(CD2AP):c.*500A>G	CD2AP	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GBenign
Select item 357209	NM_012120.3(CD2AP):c.*498A>G	CD2AP	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 357208	NM_012120.3(CD2AP):c.*496A>G	CD2AP	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 357198	NM_012120.3(CD2AP):c.*494G>A	CD2AP	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 357195	NM_012120.3(CD2AP):c.*492G>A	CD2AP	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 357189	NM_012120.3(CD2AP):c.*452C>G	CD2AP	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 357182	NM_012120.3(CD2AP):c.*319A>C	CD2AP	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 357181	NM_012120.3(CD2AP):c.*186A>T	CD2AP	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GBenign
Select item 357180	NM_012120.3(CD2AP):c.*20C>G	CD2AP	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GBenign
Select item 357179	NM_012120.3(CD2AP):c.1673C>T (p.Ala558Val)	CD2AP (A558V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 357178	NM_012120.3(CD2AP):c.1651A>G (p.Thr551Ala)	CD2AP (T551A)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GLikely benign
Select item 357177	NM_012120.3(CD2AP):c.1633-6T>A	CD2AP	Single nucleotide variant (intron variant)	CD2AP-related condition +2 more	GUncertain significance
Select item 357176	NM_012120.3(CD2AP):c.1569AGA[2] (p.Glu525del)	CD2AP (E525del)	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 357175	NM_012120.3(CD2AP):c.1531-15T>A	CD2AP	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 3, susceptibility to +1 more	GBenign
Select item 357174	NM_012120.3(CD2AP):c.1404C>T (p.Thr468=)	CD2AP	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GLikely benign
Select item 357173	NM_012120.3(CD2AP):c.1188C>G (p.Thr396=)	CD2AP	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign

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