Related gene-specific medical variations for Gene (Select 23607) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246214	NC_000006.11:g.(?_47564630)_(47567630_?)del	CD2AP	Deletion	not provided	GPathogenic
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 2575992	NM_012120.3(CD2AP):c.1546G>A (p.Glu516Lys)	CD2AP (E516K)	Single nucleotide variant (missense variant)	not provided	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 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 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 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 357156	NM_012120.3(CD2AP):c.-197C>T	CD2AP, CD2AP-DT +1 more	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
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 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 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 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 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 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 260182	NM_012120.3(CD2AP):c.1275-18G>A	CD2AP	Single nucleotide variant (intron variant)	not specified	GLikely benign