"GeneDx"[submitter] AND "NEIL1"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1268945	NM_024608.4(NEIL1):c.-23+263G>A	NEIL1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1316934	NM_024608.4(NEIL1):c.-23+315G>A	NEIL1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1280215	NM_024608.4(NEIL1):c.-23+609C>T	LOC130057604, NEIL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236664	NM_024608.4(NEIL1):c.-22-656A>G	NEIL1, LOC130057604	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317467	NM_024608.4(NEIL1):c.-22-639C>T	LOC130057604, NEIL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 771476	NM_024608.4(NEIL1):c.146C>G (p.Ala49Gly)	NEIL1 (A135G +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GBenign/Likely benign
Select item 790285	NM_024608.4(NEIL1):c.434+2T>C	NEIL1	Single nucleotide variant (splice donor variant)	not provided	GBenign/Likely benign
Select item 1316935	NM_024608.4(NEIL1):c.434+34G>A	NEIL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1281887	NM_024608.4(NEIL1):c.719-114_719-113del	MIR631, NEIL1	Deletion (non-coding transcript variant +1 more)	not provided	GBenign
Select item 779899	NM_024608.4(NEIL1):c.754G>A (p.Asp252Asn)	NEIL1 (D338N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 254015	GRCh37/hg19 15q24.1-24.3(chr15:74368270-78122737)x3	ARID3B, C15orf39 +49 more	Copy number gain	See cases	GUncertain significance
Select item 253861	GRCh37/hg19 15q24.2(chr15:75562397-76030552)x3	COMMD4, SNUPN +10 more	Copy number gain	See cases	GUncertain significance
Select item 253605	GRCh37/hg19 15q24.1-24.2(chr15:72998989-76069787)x3	ADPGK, ARID3B +47 more	Copy number gain	See cases	GPathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic