"Baylor Genetics"[submitter] AND "DENND5A"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1031884	NM_015213.4(DENND5A):c.3068A>T (p.Lys1023Ile)	DENND5A (K927I +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 49	GUncertain significance
Select item 1027954	NM_015213.4(DENND5A):c.2908A>C (p.Met970Leu)	DENND5A (M970L +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 49	GUncertain significance
Select item 1031883	NM_015213.4(DENND5A):c.2189T>C (p.Ile730Thr)	DENND5A (I730T +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 49	GUncertain significance
Select item 1031882	NM_015213.4(DENND5A):c.1940A>G (p.Asp647Gly)	DENND5A (D623G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 450134	NM_015213.4(DENND5A):c.1453A>G (p.Lys485Glu)	DENND5A (K485E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	ADM, AKIP1 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic

ClinVar