"Genome-Nilou Lab"[submitter] AND "LOC126806830"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 343593	NM_001184.4(ATR):c.6197G>A (p.Arg2066Gln)	ATR, LOC126806830 (R2066Q +1 more)	Single nucleotide variant (missense variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +2 more	GUncertain significance
Select item 1026211	NM_001184.4(ATR):c.6196C>T (p.Arg2066Trp)	ATR, LOC126806830 (R2002W +1 more)	Single nucleotide variant (missense variant)	Seckel syndrome 1 +3 more	GUncertain significance
Select item 1103292	NM_001184.4(ATR):c.6183A>G (p.Gln2061=)	ATR, LOC126806830	Single nucleotide variant (synonymous variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GLikely benign
Select item 1102957	NM_001184.4(ATR):c.6153C>T (p.Pro2051=)	ATR, LOC126806830	Single nucleotide variant (synonymous variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GLikely benign
Select item 700413	NM_001184.4(ATR):c.6126T>C (p.Leu2042=)	ATR, LOC126806830	Single nucleotide variant (synonymous variant)	Seckel syndrome 1 +4 more	GLikely benign
Select item 1098629	NM_001184.4(ATR):c.6089C>T (p.Ala2030Val)	ATR, LOC126806830 (A1966V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance

ClinVar