"Illumina Laboratory Services, Illumina"[submitter] AND "LOC126806830" - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 343592	NM_001184.4(ATR):c.6221+3G>A	ATR, LOC126806830	Single nucleotide variant (intron variant)	ATR-related condition +2 more	GConflicting classifications of pathogenicity
Select item 899877	NM_001184.4(ATR):c.6198G>C (p.Arg2066=)	ATR, LOC126806830	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 343593	NM_001184.4(ATR):c.6197G>A (p.Arg2066Gln)	LOC126806830, ATR (R2066Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 343594	NM_001184.4(ATR):c.6090G>A (p.Ala2030=)	ATR, LOC126806830	Single nucleotide variant (synonymous variant)	Seckel syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 899878	NM_001184.4(ATR):c.6079-6T>A	ATR, LOC126806830	Single nucleotide variant (intron variant)	Seckel syndrome 1	GUncertain significance
Select item 343595	NM_001184.4(ATR):c.6079-14G>A	ATR, LOC126806830	Single nucleotide variant (intron variant)	Seckel syndrome 1	GUncertain significance

ClinVar