"Genome-Nilou Lab"[submitter] AND "ATR"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 668234	NM_001184.4(ATR):c.7902C>T (p.Cys2634=)	ATR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 1154900	NM_001184.4(ATR):c.7899A>G (p.Leu2633=)	ATR	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
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 899824	NM_001184.4(ATR):c.7864T>C (p.Tyr2622His)	ATR (Y2558H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1116460	NM_001184.4(ATR):c.7863T>C (p.His2621=)	ATR	Single nucleotide variant (synonymous variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GLikely benign
Select item 1128141	NM_001184.4(ATR):c.7839G>A (p.Pro2613=)	ATR	Single nucleotide variant (synonymous variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GLikely benign
Select item 899825	NM_001184.4(ATR):c.7817G>A (p.Arg2606Gln)	ATR (R2542Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 698643	NM_001184.4(ATR):c.7800A>G (p.Gln2600=)	ATR	Single nucleotide variant (synonymous variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GLikely benign
Select item 1555959	NM_001184.4(ATR):c.7791G>A (p.Gln2597=)	ATR	Single nucleotide variant (synonymous variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GLikely benign
Select item 1468066	NM_001184.4(ATR):c.7780G>C (p.Asp2594His)	ATR (D2594H +1 more)	Single nucleotide variant (missense variant)	Seckel syndrome 1 +3 more	GUncertain significance
Select item 1633716	NM_001184.4(ATR):c.7770C>T (p.Thr2590=)	ATR	Single nucleotide variant (synonymous variant)	Seckel syndrome 1 +3 more	GLikely benign
Select item 1044549	NM_001184.4(ATR):c.7732A>T (p.Asn2578Tyr)	ATR (N2514Y +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1587124	NM_001184.4(ATR):c.7728A>T (p.Pro2576=)	ATR	Single nucleotide variant (synonymous variant)	Seckel syndrome 1 +3 more	GLikely benign
Select item 1113589	NM_001184.4(ATR):c.7662A>G (p.Leu2554=)	ATR	Single nucleotide variant (synonymous variant)	Seckel syndrome 1 +3 more	GLikely benign
Select item 962990	NM_001184.4(ATR):c.7658T>A (p.Val2553Asp)	ATR (V2489D +1 more)	Single nucleotide variant (missense variant)	Seckel syndrome 1 +3 more	GUncertain significance
Select item 696340	NM_001184.4(ATR):c.7632T>A (p.Arg2544=)	ATR	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1081497	NM_001184.4(ATR):c.7621A>C (p.Arg2541=)	ATR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 1598468	NM_001184.4(ATR):c.7617A>G (p.Thr2539=)	ATR	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1330643	NM_001184.4(ATR):c.7504-16A>G	ATR	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 695422	NM_001184.4(ATR):c.7488T>C (p.Asn2496=)	ATR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 1448387	NM_001184.4(ATR):c.7487A>G (p.Asn2496Ser)	ATR (N2496S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1587974	NM_001184.4(ATR):c.7482T>C (p.Asp2494=)	ATR	Single nucleotide variant (synonymous variant)	Seckel syndrome 1 +3 more	GLikely benign
Select item 1034820	NM_001184.4(ATR):c.7427G>A (p.Arg2476His)	ATR (R2412H +1 more)	Single nucleotide variant (missense variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GUncertain significance
Select item 956492	NM_001184.4(ATR):c.7426C>A (p.Arg2476Ser)	ATR (R2476S +1 more)	Single nucleotide variant (missense variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GUncertain significance
Select item 1585500	NM_001184.4(ATR):c.7425C>T (p.Asp2475=)	ATR	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 700205	NM_001184.4(ATR):c.7411C>T (p.Leu2471=)	ATR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GLikely benign
Select item 697055	NM_001184.4(ATR):c.7407T>C (p.Tyr2469=)	ATR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 931877	NM_001184.4(ATR):c.7399G>A (p.Val2467Ile)	ATR (V2467I +1 more)	Single nucleotide variant (missense variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +2 more	GUncertain significance
Select item 343583	NM_001184.4(ATR):c.7356TAG[3] (p.Ser2453dup)	ATR	Microsatellite (inframe_insertion)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GUncertain significance
Select item 1584537	NM_001184.4(ATR):c.7311T>C (p.His2437=)	ATR	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely 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 1518332	NM_001184.4(ATR):c.7297C>T (p.Pro2433Ser)	ATR (P2433S +1 more)	Single nucleotide variant (missense variant)	Seckel syndrome 1 +3 more	GUncertain significance
Select item 1569127	NM_001184.4(ATR):c.7284C>T (p.Leu2428=)	ATR	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
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 967499	NM_001184.4(ATR):c.7250T>C (p.Leu2417Ser)	ATR (L2417S +1 more)	Single nucleotide variant (missense variant)	Seckel syndrome 1 +3 more	GUncertain significance
Select item 224560	NM_001184.4(ATR):c.7220G>A (p.Arg2407His)	ATR (R2407H +1 more)	Single nucleotide variant (missense variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GUncertain significance
Select item 1657877	NM_001184.4(ATR):c.7192+19A>G	ATR	Single nucleotide variant (intron variant)	Seckel syndrome 1 +2 more	GBenign/Likely benign
Select item 517691	NM_001184.4(ATR):c.7192+18T>C	ATR	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1112754	NM_001184.4(ATR):c.7179A>G (p.Leu2393=)	ATR	Single nucleotide variant (synonymous variant)	Seckel syndrome 1 +3 more	GLikely benign
Select item 1657863	NM_001184.4(ATR):c.7077A>G (p.Glu2359=)	ATR	Single nucleotide variant (synonymous variant)	Seckel syndrome 1 +3 more	GLikely benign
Select item 158002	NM_001184.4(ATR):c.7041+4G>C	ATR	Single nucleotide variant (intron variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +2 more	GUncertain significance
Select item 1556981	NM_001184.4(ATR):c.7005T>C (p.Asp2335=)	ATR	Single nucleotide variant (synonymous variant)	Seckel syndrome 1 +3 more	GLikely benign
Select item 1398745	NM_001184.4(ATR):c.6976T>C (p.Cys2326Arg)	ATR (C2262R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 158001	NM_001184.4(ATR):c.6961T>C (p.Phe2321Leu)	ATR (F2321L +1 more)	Single nucleotide variant (missense variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +2 more	GUncertain significance
Select item 722011	NM_001184.4(ATR):c.6903A>G (p.Glu2301=)	ATR	Single nucleotide variant (synonymous variant)	Seckel syndrome 1 +3 more	GLikely benign
Select item 1363867	NM_001184.4(ATR):c.6880G>T (p.Ala2294Ser)	ATR (A2294S +1 more)	Single nucleotide variant (missense variant)	Seckel syndrome 1 +3 more	GUncertain significance
Select item 1008084	NM_001184.4(ATR):c.6877A>G (p.Ile2293Val)	ATR (I2229V +1 more)	Single nucleotide variant (missense variant)	Seckel syndrome 1 +3 more	GUncertain significance
Select item 1080169	NM_001184.4(ATR):c.6855A>G (p.Pro2285=)	ATR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 1368179	NM_001184.4(ATR):c.6829C>T (p.His2277Tyr)	ATR (H2277Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 509587	NM_001184.4(ATR):c.6813A>G (p.Pro2271=)	ATR	Single nucleotide variant (synonymous variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GLikely benign
Select item 1034823	NM_001184.4(ATR):c.6800T>C (p.Ile2267Thr)	ATR (I2203T +1 more)	Single nucleotide variant (missense variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1077200	NM_001184.4(ATR):c.6786A>G (p.Leu2262=)	ATR	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1304526	NM_001184.4(ATR):c.6775C>G (p.Leu2259Val)	ATR (L2195V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 697963	NM_001184.4(ATR):c.6726T>C (p.His2242=)	ATR	Single nucleotide variant (synonymous variant)	Seckel syndrome 1 +4 more	GBenign/Likely benign
Select item 989275	NM_001184.4(ATR):c.6675G>T (p.Leu2225Phe)	ATR (L2161F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1442333	NM_001184.4(ATR):c.6635T>C (p.Val2212Ala)	ATR (V2148A +1 more)	Single nucleotide variant (missense variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GUncertain significance
Select item 1097609	NM_001184.4(ATR):c.6459C>T (p.His2153=)	ATR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 1593687	NM_001184.4(ATR):c.6438C>T (p.Ile2146=)	ATR	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1134975	NM_001184.4(ATR):c.6433T>C (p.Leu2145=)	ATR	Single nucleotide variant (synonymous variant)	Seckel syndrome 1 +3 more	GLikely benign
Select item 158000	NM_001184.4(ATR):c.6394T>G (p.Tyr2132Asp)	ATR (Y2132D +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 1063193	NM_001184.4(ATR):c.6376A>G (p.Ile2126Val)	ATR (I2062V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1450081	NM_001184.4(ATR):c.6341A>G (p.Gln2114Arg)	ATR (Q2050R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
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 1372343	NM_001184.4(ATR):c.6335G>A (p.Arg2112His)	ATR (R2048H +1 more)	Single nucleotide variant (missense variant)	Seckel syndrome 1 +3 more	GUncertain significance
Select item 1089371	NM_001184.4(ATR):c.6327C>T (p.Arg2109=)	ATR	Single nucleotide variant (synonymous variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GLikely benign
Select item 1124837	NM_001184.4(ATR):c.6279A>G (p.Leu2093=)	ATR	Single nucleotide variant (synonymous variant)	Seckel syndrome 1 +3 more	GLikely benign
Select item 343586	NM_001184.4(ATR):c.6259A>G (p.Met2087Val)	ATR (M2087V +1 more)	Single nucleotide variant (missense variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +1 more	GUncertain significance
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
Select item 970150	NM_001184.4(ATR):c.6023G>T (p.Arg2008Leu)	ATR (R2008L +1 more)	Single nucleotide variant (missense variant)	Seckel syndrome 1 +3 more	GUncertain significance
Select item 901057	NM_001184.4(ATR):c.6023G>A (p.Arg2008Gln)	ATR (R1944Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1520769	NM_001184.4(ATR):c.5996A>G (p.His1999Arg)	ATR (H1999R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 343597	NM_001184.4(ATR):c.5987T>C (p.Met1996Thr)	ATR (M1996T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1518871	NM_001184.4(ATR):c.5947T>C (p.Cys1983Arg)	ATR (C1983R +1 more)	Single nucleotide variant (missense variant)	Seckel syndrome 1 +3 more	GUncertain significance
Select item 382221	NM_001184.4(ATR):c.5931A>G (p.Gln1977=)	ATR	Single nucleotide variant (synonymous variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +4 more	GLikely benign
Select item 392269	NM_001184.4(ATR):c.5900G>A (p.Gly1967Asp)	ATR (G1967D +1 more)	Single nucleotide variant (missense variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GUncertain significance
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 1330447	NM_001184.4(ATR):c.5889C>T (p.Leu1963=)	ATR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 859656	NM_001184.4(ATR):c.5869G>A (p.Val1957Met)	ATR (V1893M +1 more)	Single nucleotide variant (missense variant)	Seckel syndrome 1 +3 more	GUncertain significance
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 1386301	NM_001184.4(ATR):c.5857G>A (p.Ala1953Thr)	ATR (A1953T +1 more)	Single nucleotide variant (missense variant)	Seckel syndrome 1 +3 more	GUncertain significance
Select item 1625709	NM_001184.4(ATR):c.5856C>T (p.Leu1952=)	ATR	Single nucleotide variant (synonymous variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GLikely benign
Select item 1422937	NM_001184.4(ATR):c.5852G>A (p.Arg1951Gln)	ATR (R1887Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1569402	NM_001184.4(ATR):c.5851C>A (p.Arg1951=)	ATR	Single nucleotide variant (synonymous variant)	Seckel syndrome 1 +3 more	GLikely 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 157995	NM_001184.4(ATR):c.5739-14G>T	ATR	Single nucleotide variant (intron variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +2 more	GUncertain significance
Select item 1426370	NM_001184.4(ATR):c.5733C>A (p.Asn1911Lys)	ATR (N1847K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 901059	NM_001184.4(ATR):c.5642T>C (p.Leu1881Pro)	ATR (L1817P +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 507508	NM_001184.4(ATR):c.5601T>C (p.Leu1867=)	ATR	Single nucleotide variant (synonymous variant)	Seckel syndrome 1 +4 more	GLikely benign
Select item 343600	NM_001184.4(ATR):c.5572T>C (p.Cys1858Arg)	ATR (C1858R +1 more)	Single nucleotide variant (missense variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +2 more	GUncertain significance
Select item 1154267	NM_001184.4(ATR):c.5562G>A (p.Leu1854=)	ATR	Single nucleotide variant (synonymous variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GLikely benign
Select item 1128437	NM_001184.4(ATR):c.5484A>G (p.Ala1828=)	ATR	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
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 1109505	NM_001184.4(ATR):c.5421A>G (p.Leu1807=)	ATR	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1594753	NM_001184.4(ATR):c.5316G>A (p.Thr1772=)	ATR	Single nucleotide variant (synonymous variant)	Seckel syndrome 1 +3 more	GLikely benign

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