"GeneDx"[submitter] AND "DAB1"[gene] - ClinVar

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Search results

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic
Select item 59968	GRCh38/hg38 1p32.3-31.3(chr1:53738212-61439648)x1	ACOT11, BSND +205 more	Copy number loss	See cases	GPathogenic
Select item 1266639	NM_001365792.1(DAB1):c.1445-89C>G	DAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271668	NM_001365792.1(DAB1):c.1445-205C>T	DAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235828	NM_001365792.1(DAB1):c.1444+132G>C	DAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180157	NM_001365792.1(DAB1):c.896-180A>G	DAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269191	NM_001365792.1(DAB1):c.895+67A>G	DAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242726	NM_001365792.1(DAB1):c.787-194C>T	DAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276143	NM_001365792.1(DAB1):c.787-217T>G	DAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234719	NM_001365792.1(DAB1):c.723+34G>A	DAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287025	NM_001365792.1(DAB1):c.664-156T>C	DAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257976	NM_001365792.1(DAB1):c.598-100G>T	DAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228789	NM_001365792.1(DAB1):c.597+114A>G	DAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248660	NM_001365792.1(DAB1):c.559-207T>C	DAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243415	NM_001365792.1(DAB1):c.558+133C>T	DAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224981	NM_001365792.1(DAB1):c.438+224A>G	DAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258944	NM_001365792.1(DAB1):c.438+202dup	DAB1	Duplication (intron variant)	not provided	GBenign
Select item 1294634	NM_001365792.1(DAB1):c.438+217_438+218del	DAB1	Deletion (intron variant)	not provided	GBenign
Select item 1264034	NM_001365792.1(DAB1):c.438+218del	DAB1	Deletion (intron variant)	not provided	GBenign
Select item 1281200	NM_001365792.1(DAB1):c.438+201G>C	DAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286261	NM_001365792.1(DAB1):c.438+188T>C	DAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1311659	NM_001365792.1(DAB1):c.292G>A (p.Asp98Asn)	DAB1 (D98N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1285755	NM_001365792.1(DAB1):c.208-20C>T	DAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267117	NM_001365792.1(DAB1):c.208-69A>G	DAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239544	NM_001365792.1(DAB1):c.68-74C>G	DAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181441	NM_001365792.1(DAB1):c.68-93A>G	DAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181328	NM_001365792.1(DAB1):c.68-228T>C	DAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249285	NM_001365792.1(DAB1):c.-136-142A>C	DAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244685	NM_001365792.1(DAB1):c.-136-179T>A	DAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180235	NM_001365792.1(DAB1):c.-136-203T>G	DAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 59970	GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1	LOC111501769, LOC112590812 +339 more	Copy number loss	See cases	GPathogenic
Select item 1287065	NM_145243.5(OMA1):c.632T>G (p.Phe211Cys)	DAB1, OMA1 (F211C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign

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Items: 32