C1842982[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

Search results

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 357150	NM_012120.3(CD2AP):c.-441C>G	CD2AP, CD2AP-DT +1 more	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 357149	NM_012120.3(CD2AP):c.-441C>A	CD2AP, CD2AP-DT +1 more	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 357151	NM_012120.3(CD2AP):c.-438C>T	CD2AP, CD2AP-DT +1 more	Single nucleotide variant (5 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 357152	NM_012120.3(CD2AP):c.-329C>T	CD2AP, CD2AP-DT +1 more	Single nucleotide variant (5 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 357153	NM_012120.3(CD2AP):c.-324G>C	CD2AP, CD2AP-DT +1 more	Single nucleotide variant (5 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 357154	NM_012120.3(CD2AP):c.-297G>C	CD2AP, CD2AP-DT +1 more	Single nucleotide variant (5 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GBenign
Select item 357155	NM_012120.3(CD2AP):c.-267G>A	CD2AP, CD2AP-DT +1 more	Single nucleotide variant (5 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GBenign
Select item 357156	NM_012120.3(CD2AP):c.-197C>T	CD2AP, CD2AP-DT +1 more	Single nucleotide variant (5 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 357157	NM_012120.3(CD2AP):c.-192A>C	CD2AP, CD2AP-DT +1 more	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 357158	NM_012120.3(CD2AP):c.-191G>A	CD2AP, CD2AP-DT +1 more	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 357160	NM_012120.3(CD2AP):c.-130C>G	CD2AP	Single nucleotide variant (5 prime UTR 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 357162	NM_012120.3(CD2AP):c.-54T>A	CD2AP	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
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 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 260189	NM_012120.3(CD2AP):c.219A>G (p.Glu73=)	CD2AP	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
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 357164	NM_012120.3(CD2AP):c.326A>G (p.Lys109Arg)	CD2AP (K109R)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 357165	NM_012120.3(CD2AP):c.400A>G (p.Ile134Val)	CD2AP (I134V)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 357166	NM_012120.3(CD2AP):c.401T>A (p.Ile134Asn)	CD2AP (I134N)	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)	Focal segmental glomerulosclerosis 3, susceptibility to +1 more	GConflicting classifications of pathogenicity
Select item 357167	NM_012120.3(CD2AP):c.530A>G (p.Gln177Arg)	CD2AP (Q177R)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 357168	NM_012120.3(CD2AP):c.541+14T>A	CD2AP	Single nucleotide variant (intron 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 357169	NM_012120.3(CD2AP):c.553G>T (p.Ala185Ser)	CD2AP (A185S)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 3, susceptibility to +1 more	GConflicting classifications of pathogenicity
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 357170	NM_012120.3(CD2AP):c.682C>T (p.Arg228Trp)	CD2AP (R228W)	Single nucleotide variant (missense variant)	CD2AP-related condition +2 more	GConflicting classifications of pathogenicity
Select item 260191	NM_012120.3(CD2AP):c.696C>T (p.Ser232=)	CD2AP	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
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 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 260192	NM_012120.3(CD2AP):c.792C>T (p.Thr264=)	CD2AP	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 260193	NM_012120.3(CD2AP):c.809-11C>A	CD2AP	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
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 357171	NM_012120.3(CD2AP):c.992T>A (p.Leu331His)	CD2AP (L331H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 260180	NM_012120.3(CD2AP):c.1120A>G (p.Thr374Ala)	CD2AP (T374A)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
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 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 357172	NM_012120.3(CD2AP):c.1181C>A (p.Pro394Gln)	CD2AP (P394Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely 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
Select item 260181	NM_012120.3(CD2AP):c.1204C>T (p.Leu402=)	CD2AP	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
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 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 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 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 357176	NM_012120.3(CD2AP):c.1569AGA[2] (p.Glu525del)	CD2AP (E525del)	Microsatellite (inframe_deletion)	not provided +1 more	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 260186	NM_012120.3(CD2AP):c.1632+8G>T	CD2AP	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely 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 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 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 260188	NM_012120.3(CD2AP):c.1898A>G (p.Lys633Arg)	CD2AP (K633R)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 357234	NM_012120.3(CD2AP):c.*2759G>A	CD2AP	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GBenign

ClinVar

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Items: 99