"Baylor Genetics"[submitter] AND "DLL1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2441870	NM_005618.4(DLL1):c.788G>A (p.Cys263Tyr)	DLL1 (C263Y)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GUncertain significance
Select item 2582420	NM_005618.4(DLL1):c.541G>A (p.Glu181Lys)	DLL1 (E181K)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GUncertain significance
Select item 2442177	NM_005618.4(DLL1):c.413-3T>G	DLL1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GUncertain significance
Select item 1028921	NM_005618.4(DLL1):c.134G>A (p.Cys45Tyr)	DLL1 (C45Y)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GUncertain significance
Select item 625666	GRCh37/hg19 6q27(chr6:168311806-170881789)	AFDN, C6orf120 +13 more	Copy number loss	not provided	GPathogenic
Select item 625656	GRCh37/hg19 6q27(chr6:166517762-170919470)	AFDN, C6orf120 +26 more	Copy number loss	not provided	GPathogenic

ClinVar