"Eurofins Ntd Llc (ga)"[submitter] AND "ATR"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 93669	NM_001184.4(ATR):c.7875G>A (p.Gln2625=)	ATR	Single nucleotide variant (synonymous variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GBenign/Likely benign
Select item 196886	NM_001184.4(ATR):c.5739-7_5739-6del	ATR	Deletion (intron variant)	Seckel syndrome 1 +3 more	GBenign
Select item 196887	NM_001184.4(ATR):c.5739-14_5739-9del	ATR	Deletion (intron variant)	Seckel syndrome 1 +3 more	GBenign
Select item 93667	NM_001184.4(ATR):c.4509A>T (p.Arg1503=)	ATR	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 195738	NM_001184.4(ATR):c.4153-21dup	ATR	Duplication (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 157966	NM_001184.4(ATR):c.1815T>C (p.Asp605=)	ATR	Single nucleotide variant (synonymous variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GBenign
Select item 157965	NM_001184.4(ATR):c.1776T>A (p.Gly592=)	ATR	Single nucleotide variant (synonymous variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GBenign/Likely benign
Select item 291086	NM_001184.4(ATR):c.1358_1359del (p.His453fs)	ATR (H453fs)	Deletion (frameshift variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 93668	NM_001184.4(ATR):c.632T>C (p.Met211Thr)	ATR (M211T)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 197188	NM_001184.4(ATR):c.305G>T (p.Trp102Leu)	ATR (W102L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance