"Fulgent Genetics, Fulgent Genetics"[submitter] AND "CD2AP"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 999719	NM_012120.3(CD2AP):c.26A>G (p.Asp9Gly)	CD2AP (D9G)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 3, susceptibility to +1 more	GUncertain significance
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 911542	NM_012120.3(CD2AP):c.182C>T (p.Thr61Met)	CD2AP (T61M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
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 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 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 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 1017628	NM_012120.3(CD2AP):c.521A>C (p.His174Pro)	CD2AP (H174P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1422021	NM_012120.3(CD2AP):c.551T>C (p.Leu184Ser)	CD2AP (L184S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1170021	NM_012120.3(CD2AP):c.636A>T (p.Arg212=)	CD2AP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 908589	NM_012120.3(CD2AP):c.730-7A>G	CD2AP	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 3, susceptibility to +1 more	GLikely benign
Select item 5703	NM_012120.3(CD2AP):c.730-1_730delinsCT	CD2AP	Indel (splice acceptor variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GPathogenic
Select item 847282	NM_012120.3(CD2AP):c.730C>T (p.Pro244Ser)	CD2AP (P244S)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 3, susceptibility to +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 260192	NM_012120.3(CD2AP):c.792C>T (p.Thr264=)	CD2AP	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
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 1529235	NM_012120.3(CD2AP):c.1275-11dup	CD2AP	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 260184	NM_012120.3(CD2AP):c.1417+19C>T	CD2AP	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 3, susceptibility to +2 more	GBenign/Likely benign
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 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 260185	NM_012120.3(CD2AP):c.1530+20G>A	CD2AP	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 3, susceptibility to +2 more	GBenign/Likely benign
Select item 1539439	NM_012120.3(CD2AP):c.1633-8G>A	CD2AP	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 738635	NM_012120.3(CD2AP):c.1641G>A (p.Val547=)	CD2AP	Single nucleotide variant (synonymous variant)	not provided +1 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 1179195	NM_012120.3(CD2AP):c.1742dup (p.Asn581fs)	CD2AP (N581fs)	Duplication (frameshift variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GPathogenic
Select item 1352391	NM_012120.3(CD2AP):c.1756C>T (p.Leu586Phe)	CD2AP (L586F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1514673	NM_012120.3(CD2AP):c.1812C>T (p.His604=)	CD2AP	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 5704	NM_012120.3(CD2AP):c.1834C>T (p.Arg612Ter)	CD2AP (R612*)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance

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Items: 29