C3281203[trait identifier] AND "KCCC/NGS Laboratory, Kuwait Cancer Con - ClinVar

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Items: 30

	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 158003	NM_001184.4(ATR):c.7300C>G (p.Pro2434Ala)	ATR (P2434A +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 136470	NM_001184.4(ATR):c.7274G>A (p.Arg2425Gln)	ATR (R2425Q +1 more)	Single nucleotide variant (missense variant)	Seckel syndrome 1 +3 more	GBenign
Select item 157999	NM_001184.4(ATR):c.6339A>G (p.Val2113=)	ATR	Single nucleotide variant (synonymous variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +2 more	GBenign/Likely benign
Select item 157997	NM_001184.4(ATR):c.5898+25T>G	ATR	Single nucleotide variant (intron variant)	Seckel syndrome 1 +2 more	GBenign/Likely benign
Select item 157996	NM_001184.4(ATR):c.5868C>T (p.Tyr1956=)	ATR	Single nucleotide variant (synonymous variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GBenign
Select item 136471	NM_001184.4(ATR):c.5460T>C (p.Tyr1820=)	ATR	Single nucleotide variant (synonymous variant)	Seckel syndrome 1 +3 more	GBenign/Likely benign
Select item 157992	NM_001184.4(ATR):c.5208T>C (p.Tyr1736=)	ATR	Single nucleotide variant (synonymous variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GBenign/Likely benign
Select item 157989	NM_001184.4(ATR):c.4835A>G (p.Asn1612Ser)	ATR (N1612S +1 more)	Single nucleotide variant (missense variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GBenign
Select item 157986	NM_001184.4(ATR):c.4383-47A>G	ATR	Single nucleotide variant (intron variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +1 more	GBenign/Likely benign
Select item 157982	NM_001184.4(ATR):c.4200A>T (p.Leu1400=)	ATR	Single nucleotide variant (synonymous variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +4 more	GBenign/Likely benign
Select item 157981	NM_001184.4(ATR):c.4002G>A (p.Gln1334=)	ATR	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 157979	NM_001184.4(ATR):c.3726-47A>G	ATR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 157978	NM_001184.4(ATR):c.3725+18A>G	ATR	Single nucleotide variant (intron variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +2 more	GBenign/Likely benign
Select item 157976	NM_001184.4(ATR):c.3172-26T>A	ATR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 157975	NM_001184.4(ATR):c.3120G>A (p.Leu1040=)	ATR	Single nucleotide variant (synonymous variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GBenign
Select item 157974	NM_001184.4(ATR):c.2875G>A (p.Val959Met)	ATR (V959M +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 157973	NM_001184.4(ATR):c.2844A>C (p.Ala948=)	ATR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 434451	NM_001184.4(ATR):c.2637C>T (p.Ala879=)	ATR	Single nucleotide variant (synonymous variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +4 more	GBenign/Likely benign
Select item 157971	NM_001184.4(ATR):c.2442A>G (p.Glu814=)	ATR	Single nucleotide variant (synonymous variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GBenign
Select item 157968	NM_001184.4(ATR):c.1950G>A (p.Glu650=)	ATR	Single nucleotide variant (synonymous variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GBenign
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 157963	NM_001184.4(ATR):c.1328G>C (p.Arg443Thr)	ATR (R443T)	Single nucleotide variant (missense variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +4 more	GBenign/Likely benign
Select item 157962	NM_001184.4(ATR):c.1326A>G (p.Lys442=)	ATR	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 158006	NM_001184.4(ATR):c.946G>A (p.Val316Ile)	ATR (V316I)	Single nucleotide variant (missense variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GBenign
Select item 158005	NM_001184.4(ATR):c.891G>C (p.Lys297Asn)	ATR (K297N)	Single nucleotide variant (missense variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +4 more	GBenign/Likely benign
Select item 93668	NM_001184.4(ATR):c.632T>C (p.Met211Thr)	ATR (M211T)	Single nucleotide variant (missense variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GBenign/Likely benign
Select item 157990	NM_001184.4(ATR):c.483A>G (p.Arg161=)	ATR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 210487	NM_001184.4(ATR):c.195C>T (p.Ser65=)	ATR	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign

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Items: 30