"GeneDx"[submitter] AND "CD2AP"[gene] - ClinVar

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Items: 68

	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 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 357162	NM_012120.3(CD2AP):c.-54T>A	CD2AP	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 1273719	NM_012120.3(CD2AP):c.4+262T>G	CD2AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 792040	NM_012120.3(CD2AP):c.42T>C (p.His14=)	CD2AP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 260189	NM_012120.3(CD2AP):c.219A>G (p.Glu73=)	CD2AP	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 3, susceptibility to +3 more	GBenign/Likely benign
Select item 1318434	NM_012120.3(CD2AP):c.319+79T>C	CD2AP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1683791	NM_012120.3(CD2AP):c.319+156A>G	CD2AP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1246051	NM_012120.3(CD2AP):c.320-113C>T	CD2AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247339	NM_012120.3(CD2AP):c.420+148C>T	CD2AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289128	NM_012120.3(CD2AP):c.421-25G>A	CD2AP	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1317957	NM_012120.3(CD2AP):c.541+149G>A	CD2AP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1683792	NM_012120.3(CD2AP):c.541+173del	CD2AP	Deletion (intron variant)	not provided	GLikely benign
Select item 1230552	NM_012120.3(CD2AP):c.542-303T>G	CD2AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 260191	NM_012120.3(CD2AP):c.696C>T (p.Ser232=)	CD2AP	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 3, susceptibility to +3 more	GBenign/Likely benign
Select item 1316586	NM_012120.3(CD2AP):c.730-202A>G	CD2AP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1683794	NM_012120.3(CD2AP):c.730-66A>G	CD2AP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1707334	NM_012120.3(CD2AP):c.809-180_809-177del	CD2AP	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1317664	NM_012120.3(CD2AP):c.903+161G>A	CD2AP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1278163	NM_012120.3(CD2AP):c.903+219C>T	CD2AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317181	NM_012120.3(CD2AP):c.904-203T>C	CD2AP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318029	NM_012120.3(CD2AP):c.904-40_904-37dup	CD2AP	Duplication (intron variant)	not provided	GLikely benign
Select item 1279143	NM_012120.3(CD2AP):c.904-39_904-37dup	CD2AP	Duplication (intron variant)	not specified +1 more	GBenign
Select item 1236888	NM_012120.3(CD2AP):c.904-37dup	CD2AP	Duplication (intron variant)	not provided	GBenign
Select item 1236281	NM_012120.3(CD2AP):c.904-38_904-37dup	CD2AP	Duplication (intron variant)	not specified +1 more	GBenign
Select item 1317696	NM_012120.3(CD2AP):c.1008+274T>C	CD2AP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317255	NM_012120.3(CD2AP):c.1009-300T>G	CD2AP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265604	NM_012120.3(CD2AP):c.1009-277T>C	CD2AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 792041	NM_012120.3(CD2AP):c.1035T>A (p.Ala345=)	CD2AP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1244190	NM_012120.3(CD2AP):c.1045+36C>A	CD2AP	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1317543	NM_012120.3(CD2AP):c.1045+285A>T	CD2AP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239987	NM_012120.3(CD2AP):c.1045+309G>T	CD2AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181309	NM_012120.3(CD2AP):c.1046-244C>T	CD2AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249605	NM_012120.3(CD2AP):c.1046-153A>T	CD2AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282480	NM_012120.3(CD2AP):c.1046-110A>G	CD2AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230729	NM_012120.3(CD2AP):c.1108+82T>C	CD2AP	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 260180	NM_012120.3(CD2AP):c.1120A>G (p.Thr374Ala)	CD2AP (T374A)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 260181	NM_012120.3(CD2AP):c.1204C>T (p.Leu402=)	CD2AP	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 3, susceptibility to +2 more	GBenign
Select item 1318337	NM_012120.3(CD2AP):c.1274+36T>G	CD2AP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316396	NM_012120.3(CD2AP):c.1275-61C>T	CD2AP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 260183	NM_012120.3(CD2AP):c.1275-20G>A	CD2AP	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1288464	NM_012120.3(CD2AP):c.1417+259C>G	CD2AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317714	NM_012120.3(CD2AP):c.1418-322dup	CD2AP	Duplication (intron variant)	not provided	GLikely benign
Select item 1248512	NM_012120.3(CD2AP):c.1418-222C>T	CD2AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225053	NM_012120.3(CD2AP):c.1418-178del	CD2AP	Deletion (intron variant)	not provided	GBenign
Select item 1259490	NM_012120.3(CD2AP):c.1530+219T>A	CD2AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244389	NM_012120.3(CD2AP):c.1531-331T>C	CD2AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257225	NM_012120.3(CD2AP):c.1531-266G>A	CD2AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233866	NM_012120.3(CD2AP):c.1531-33A>G	CD2AP	Single nucleotide variant (intron variant)	not provided	GBenign
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 1317735	NM_012120.3(CD2AP):c.1632+89G>T	CD2AP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317291	NM_012120.3(CD2AP):c.1632+111A>G	CD2AP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318213	NM_012120.3(CD2AP):c.1633-27T>C	CD2AP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 260187	NM_012120.3(CD2AP):c.1743T>A (p.Asn581Lys)	CD2AP (N581K)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1255010	NM_012120.3(CD2AP):c.1814+24G>A	CD2AP	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1316257	NM_012120.3(CD2AP):c.1814+89G>A	CD2AP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1302837	NM_012120.3(CD2AP):c.1814+225_1814+227dup	CD2AP	Duplication (intron variant)	not provided	GBenign
Select item 1252571	NM_012120.3(CD2AP):c.1814+227dup	CD2AP	Duplication (intron variant)	not provided	GBenign
Select item 1270110	NM_012120.3(CD2AP):c.1814+225_1814+227del	CD2AP	Deletion (intron variant)	not provided	GBenign
Select item 1262676	NM_012120.3(CD2AP):c.1814+227del	CD2AP	Deletion (intron variant)	not provided	GBenign
Select item 1317642	NM_012120.3(CD2AP):c.1814+228_1814+229del	CD2AP	Deletion (intron variant)	not provided	GLikely benign
Select item 1262089	NM_012120.3(CD2AP):c.1814+231A>G	CD2AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316256	NM_012120.3(CD2AP):c.1815-267A>C	CD2AP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317292	NM_012120.3(CD2AP):c.1878+77G>A	CD2AP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317253	NM_012120.3(CD2AP):c.1878+272G>A	CD2AP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1246022	NM_012120.3(CD2AP):c.1879-66T>C	CD2AP	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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

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Items: 68