"PreventionGenetics, part of Exact Sciences"[submitter] AND "NEIL1"[ge - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3037264	NM_024608.4(NEIL1):c.435-819_435-818dup	NEIL1	Duplication (intron variant)	NEIL1-related disorder	GBenign
Select item 3044045	NM_024608.4(NEIL1):c.619-22CCTGCC[3]	NEIL1	Microsatellite (intron variant)	NEIL1-related disorder	GLikely benign
Select item 3053256	NM_024608.4(NEIL1):c.733G>A (p.Gly245Arg)	NEIL1 (G143R +2 more)	Single nucleotide variant (missense variant +1 more)	NEIL1-related disorder	GLikely benign
Select item 3040483	NM_024608.4(NEIL1):c.753G>A (p.Glu251=)	NEIL1	Single nucleotide variant (synonymous variant +1 more)	NEIL1-related disorder	GLikely benign
Select item 3040299	NM_024608.4(NEIL1):c.921T>G (p.Pro307=)	NEIL1	Single nucleotide variant (synonymous variant +1 more)	NEIL1-related disorder	GLikely benign
Select item 3038947	NM_024608.4(NEIL1):c.967A>G (p.Arg323Gly)	NEIL1 (R221G +2 more)	Single nucleotide variant (missense variant +1 more)	NEIL1-related disorder	GLikely benign
Select item 3053096	NM_024608.4(NEIL1):c.990C>T (p.Asp330=)	NEIL1	Single nucleotide variant (synonymous variant +1 more)	NEIL1-related disorder	GLikely benign
Select item 2634552	NM_006715.4(MAN2C1):c.2584G>A (p.Gly862Ser)	MAN2C1, NEIL1 (G763S +2 more)	Single nucleotide variant (missense variant +2 more)	MAN2C1-related disorder	GUncertain significance

ClinVar