CD2AP-DT[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146275	GRCh38/hg38 6p21.1-12.3(chr6:44985760-47986838)x3	ADGRF1, ADGRF2 +78 more	Copy number gain	See cases	GLikely pathogenic
Select item 149301	GRCh38/hg38 6p21.1-12.1(chr6:45681671-54212044)x1	GSTA3, GSTA4 +228 more	Copy number loss	See cases	GPathogenic
Select item 153225	GRCh38/hg38 6p12.3(chr6:47191779-51427306)x1	ADGRF2, ADGRF4 +64 more	Copy number loss	See cases	GLikely pathogenic
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