"DENND5A-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3039777	NM_015213.4(DENND5A):c.*2C>A	DENND5A	Single nucleotide variant (3 prime UTR variant +1 more)	DENND5A-related disorder	GLikely benign
Select item 1896753	NM_015213.4(DENND5A):c.3837G>A (p.Thr1279=)	DENND5A	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GLikely benign
Select item 2082579	NM_015213.4(DENND5A):c.3013T>C (p.Leu1005=)	DENND5A	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 3061326	NM_015213.4(DENND5A):c.2614C>T (p.Gln872Ter)	DENND5A (Q776* +2 more)	Single nucleotide variant (nonsense +1 more)	DENND5A-related disorder	GLikely pathogenic
Select item 2158234	NM_015213.4(DENND5A):c.2607G>A (p.Arg869=)	DENND5A	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 375552	NM_015213.4(DENND5A):c.2314C>T (p.Arg772Ter)	DENND5A (R772* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1590581	NM_015213.4(DENND5A):c.1947T>C (p.Thr649=)	DENND5A	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 806618	NM_015213.4(DENND5A):c.1672-7C>T	DENND5A	Single nucleotide variant (intron variant)	DENND5A-related disorder +1 more	GBenign/Likely benign
Select item 872300	NM_015213.4(DENND5A):c.1611A>G (p.Gln537=)	DENND5A	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2073065	NM_015213.4(DENND5A):c.1465C>T (p.Arg489Cys)	DENND5A (R393C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 780949	NM_015213.4(DENND5A):c.1458G>A (p.Leu486=)	DENND5A	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 715632	NM_015213.4(DENND5A):c.81G>T (p.Glu27Asp)	DENND5A, LOC130005268 (E27D)	Single nucleotide variant (missense variant +2 more)	DENND5A-related disorder +1 more	GBenign/Likely benign
Select item 1921459	NM_015213.4(DENND5A):c.75C>T (p.Asp25=)	DENND5A, LOC130005268	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 1529145	NM_015213.4(DENND5A):c.36C>T (p.Pro12=)	DENND5A, LOC130005268	Single nucleotide variant (synonymous variant +2 more)	Developmental and epileptic encephalopathy, 49 +2 more	GBenign/Likely benign