ClinVar for MedGen (Select 1637056) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3629927	NM_001184.4(ATR):c.3725+2T>C	ATR	Single nucleotide variant (splice donor variant)	Seckel syndrome 1	GLikely pathogenic
Select item 3588641	NM_001184.4(ATR):c.7G>T (p.Glu3Ter)	ATR (E3*)	Single nucleotide variant (nonsense)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +1 more	GUncertain significance
Select item 3588640	NM_001184.4(ATR):c.152-13C>A	ATR	Single nucleotide variant (intron variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +1 more	GUncertain significance
Select item 3588639	NM_001184.4(ATR):c.799A>G (p.Ser267Gly)	ATR (S267G)	Single nucleotide variant (missense variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +1 more	GUncertain significance
Select item 3588638	NM_001184.4(ATR):c.841G>T (p.Val281Leu)	ATR (V281L)	Single nucleotide variant (missense variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +1 more	GUncertain significance
Select item 3588637	NM_001184.4(ATR):c.943C>T (p.Pro315Ser)	ATR (P315S)	Single nucleotide variant (missense variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +1 more	GUncertain significance
Select item 3588636	NM_001184.4(ATR):c.1399A>T (p.Lys467Ter)	ATR (K467*)	Single nucleotide variant (nonsense +1 more)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +1 more	GLikely pathogenic
Select item 3588634	NM_001184.4(ATR):c.1508G>A (p.Cys503Tyr)	ATR (C503Y)	Single nucleotide variant (missense variant +1 more)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +1 more	GUncertain significance
Select item 3588633	NM_001184.4(ATR):c.1846A>C (p.Asn616His)	ATR (N616H +1 more)	Single nucleotide variant (missense variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +1 more	GUncertain significance
Select item 3588632	NM_001184.4(ATR):c.2853_2856delinsAACA (p.Asn951Lys)	ATR (N887K +1 more)	Indel (missense variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +1 more	GUncertain significance
Select item 3588631	NM_001184.4(ATR):c.2872G>C (p.Asp958His)	ATR (D894H +1 more)	Single nucleotide variant (missense variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +1 more	GUncertain significance
Select item 3588628	NM_001184.4(ATR):c.4579_4581delinsCAA (p.Tyr1527Gln)	ATR (Y1527Q +1 more)	Indel (missense variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +1 more	GUncertain significance
Select item 3588627	NM_001184.4(ATR):c.4742T>C (p.Val1581Ala)	ATR (V1581A +1 more)	Single nucleotide variant (missense variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +1 more	GUncertain significance
Select item 3588626	NM_001184.4(ATR):c.4789C>G (p.Gln1597Glu)	ATR (Q1533E +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3588625	NM_001184.4(ATR):c.5692G>A (p.Glu1898Lys)	ATR (E1834K +1 more)	Single nucleotide variant (missense variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +1 more	GUncertain significance
Select item 3588624	NM_001184.4(ATR):c.6206TTC[1] (p.Leu2070del)	ATR, LOC126806830 (L2006del +1 more)	Microsatellite	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +1 more	GUncertain significance
Select item 3588621	NM_001184.4(ATR):c.7458G>C (p.Leu2486Phe)	ATR (L2422F +1 more)	Single nucleotide variant (missense variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +1 more	GUncertain significance
Select item 3382387	NM_001184.4(ATR):c.6787C>T (p.Gln2263Ter)	ATR (Q2199* +1 more)	Single nucleotide variant (nonsense)	Seckel syndrome 1	GLikely pathogenic
Select item 3331806	NM_001184.4(ATR):c.1222A>G (p.Ile408Val)	ATR (I408V)	Single nucleotide variant (missense variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +2 more	GUncertain significance
Select item 3331282	NM_001184.4(ATR):c.6494C>G (p.Ala2165Gly)	ATR (A2101G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3250417	NM_001184.4(ATR):c.457T>C (p.Phe153Leu)	ATR (F153L)	Single nucleotide variant (missense variant)	Seckel syndrome 1	GUncertain significance
Select item 2712677	NM_001184.4(ATR):c.7042-1G>A	ATR	Single nucleotide variant (splice acceptor variant)	Seckel syndrome 1 +1 more	GLikely pathogenic
Select item 2614266	NM_001184.4(ATR):c.424T>G (p.Phe142Val)	ATR (F142V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2587549	NM_001184.4(ATR):c.1513G>C (p.Val505Leu)	ATR (V505L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2562504	NM_001184.4(ATR):c.4441A>T (p.Ser1481Cys)	ATR (S1417C +1 more)	Single nucleotide variant (missense variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GUncertain significance
Select item 2179875	NM_001184.4(ATR):c.1170+3A>G	ATR	Single nucleotide variant (intron variant)	Seckel syndrome 1 +2 more	GUncertain significance
Select item 2139772	NM_001184.4(ATR):c.2705C>G (p.Ser902Cys)	ATR (S902C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1916786	NM_001184.4(ATR):c.5975A>G (p.Glu1992Gly)	ATR (E1992G +1 more)	Single nucleotide variant (missense variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +2 more	GUncertain significance
Select item 1758124	NM_001184.4(ATR):c.7295A>G (p.His2432Arg)	ATR (H2432R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1723224	NM_001184.4(ATR):c.7597C>T (p.Arg2533Ter)	ATR (R2469* +1 more)	Single nucleotide variant (nonsense)	Seckel syndrome 1	GLikely pathogenic
Select item 1675936	NM_001184.4(ATR):c.5078G>A (p.Ser1693Asn)	ATR (S1629N +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 1657863	NM_001184.4(ATR):c.7077A>G (p.Glu2359=)	ATR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 1656957	NM_001184.4(ATR):c.1503T>A (p.Ala501=)	ATR	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GLikely benign
Select item 1656617	NM_001184.4(ATR):c.3183A>G (p.Glu1061=)	ATR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 1652298	NM_001184.4(ATR):c.24G>A (p.Leu8=)	ATR, LOC129937703	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 1639152	NM_001184.4(ATR):c.1998A>G (p.Val666=)	ATR	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1633716	NM_001184.4(ATR):c.7770C>T (p.Thr2590=)	ATR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 1630641	NM_001184.4(ATR):c.4950A>G (p.Ala1650=)	ATR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 1630399	NM_001184.4(ATR):c.2892G>A (p.Val964=)	ATR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 1627861	NM_001184.4(ATR):c.3567T>C (p.Pro1189=)	ATR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 1625709	NM_001184.4(ATR):c.5856C>T (p.Leu1952=)	ATR	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1611936	NM_001184.4(ATR):c.2487G>A (p.Lys829=)	ATR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 1607152	NM_001184.4(ATR):c.3513G>A (p.Arg1171=)	ATR	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1603580	NM_001184.4(ATR):c.2073T>A (p.Ile691=)	ATR	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1598468	NM_001184.4(ATR):c.7617A>G (p.Thr2539=)	ATR	Single nucleotide variant (synonymous variant)	Seckel syndrome 1 +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
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 1593243	NM_001184.4(ATR):c.4314A>G (p.Pro1438=)	ATR	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1593172	NM_001184.4(ATR):c.1791A>G (p.Pro597=)	ATR	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1593102	NM_001184.4(ATR):c.4806G>A (p.Glu1602=)	ATR	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1590008	NM_001184.4(ATR):c.4746C>T (p.Phe1582=)	ATR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 1588618	NM_001184.4(ATR):c.177T>C (p.Thr59=)	ATR	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1587974	NM_001184.4(ATR):c.7482T>C (p.Asp2494=)	ATR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 1587124	NM_001184.4(ATR):c.7728A>T (p.Pro2576=)	ATR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 1585500	NM_001184.4(ATR):c.7425C>T (p.Asp2475=)	ATR	Single nucleotide variant (synonymous variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GLikely benign
Select item 1584537	NM_001184.4(ATR):c.7311T>C (p.His2437=)	ATR	Single nucleotide variant (synonymous variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GLikely benign
Select item 1582578	NM_001184.4(ATR):c.4809A>G (p.Lys1603=)	ATR	Single nucleotide variant (synonymous variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GLikely benign
Select item 1580009	NM_001184.4(ATR):c.2874C>T (p.Asp958=)	ATR	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1573785	NM_001184.4(ATR):c.3330G>A (p.Pro1110=)	ATR	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1569402	NM_001184.4(ATR):c.5851C>A (p.Arg1951=)	ATR	Single nucleotide variant (synonymous variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GLikely benign
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 1563626	NM_001184.4(ATR):c.4447T>C (p.Leu1483=)	ATR	Single nucleotide variant (synonymous variant)	Seckel syndrome 1 +3 more	GLikely benign
Select item 1559666	NM_001184.4(ATR):c.3705C>T (p.His1235=)	ATR	Single nucleotide variant (synonymous variant)	Seckel syndrome 1 +3 more	GLikely benign
Select item 1556981	NM_001184.4(ATR):c.7005T>C (p.Asp2335=)	ATR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 1555959	NM_001184.4(ATR):c.7791G>A (p.Gln2597=)	ATR	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1547754	NM_001184.4(ATR):c.1488C>T (p.Val496=)	ATR	Single nucleotide variant (synonymous variant +1 more)	Seckel syndrome 1 +3 more	GLikely benign
Select item 1543051	NM_001184.4(ATR):c.3765A>G (p.Leu1255=)	ATR	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1532098	NM_001184.4(ATR):c.2094T>C (p.Asp698=)	ATR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 1525384	NM_001184.4(ATR):c.5145G>A (p.Leu1715=)	ATR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 1520769	NM_001184.4(ATR):c.5996A>G (p.His1999Arg)	ATR (H1999R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1520337	NM_001184.4(ATR):c.3245G>A (p.Arg1082His)	ATR (R1018H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1518871	NM_001184.4(ATR):c.5947T>C (p.Cys1983Arg)	ATR (C1983R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1518332	NM_001184.4(ATR):c.7297C>T (p.Pro2433Ser)	ATR (P2433S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1512759	NM_001184.4(ATR):c.1966T>C (p.Tyr656His)	ATR (Y592H +1 more)	Single nucleotide variant (missense variant)	Seckel syndrome 1 +3 more	GUncertain significance
Select item 1511234	NM_001184.4(ATR):c.3586T>G (p.Trp1196Gly)	ATR (W1132G +1 more)	Single nucleotide variant (missense variant)	Seckel syndrome 1 +3 more	GUncertain significance
Select item 1508999	NM_001184.4(ATR):c.2130A>G (p.Ile710Met)	ATR (I710M +1 more)	Single nucleotide variant (missense variant)	Seckel syndrome 1 +3 more	GUncertain significance
Select item 1506924	NM_001184.4(ATR):c.31A>G (p.Met11Val)	ATR, LOC129937703 (M11V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1506845	NM_001184.4(ATR):c.3925G>A (p.Glu1309Lys)	ATR (E1245K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1503402	NM_001184.4(ATR):c.390A>T (p.Leu130Phe)	ATR (L130F)	Single nucleotide variant (missense variant)	Seckel syndrome 1 +3 more	GUncertain significance
Select item 1503191	NM_001184.4(ATR):c.2220C>G (p.Leu740=)	ATR	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1500065	NM_001184.4(ATR):c.1972T>C (p.Trp658Arg)	ATR (W594R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1496462	NM_001184.4(ATR):c.3340A>G (p.Ile1114Val)	ATR (I1050V +1 more)	Single nucleotide variant (missense variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GUncertain significance
Select item 1494994	NM_001184.4(ATR):c.4639G>A (p.Glu1547Lys)	ATR (E1483K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1486140	NM_001184.4(ATR):c.10C>T (p.His4Tyr)	ATR (H4Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1482221	NM_001184.4(ATR):c.590T>C (p.Met197Thr)	ATR (M197T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1481843	NM_001184.4(ATR):c.139G>C (p.Asp47His)	ATR (D47H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1481818	NM_001184.4(ATR):c.3275A>G (p.Asn1092Ser)	ATR (N1092S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1476314	NM_001184.4(ATR):c.2158G>A (p.Gly720Ser)	ATR (G720S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1476105	NM_001184.4(ATR):c.943C>G (p.Pro315Ala)	ATR (P315A)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1475779	NM_001184.4(ATR):c.847A>C (p.Met283Leu)	ATR (M283L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1468066	NM_001184.4(ATR):c.7780G>C (p.Asp2594His)	ATR (D2594H +1 more)	Single nucleotide variant (missense variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GUncertain significance
Select item 1465093	NM_001184.4(ATR):c.2360A>G (p.His787Arg)	ATR (H723R +1 more)	Single nucleotide variant (missense variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GUncertain significance
Select item 1463547	NM_001184.4(ATR):c.671G>A (p.Arg224Lys)	ATR (R224K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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)	Seckel syndrome 1 +3 more	GUncertain significance
Select item 1449880	NM_001184.4(ATR):c.4348G>A (p.Val1450Ile)	ATR (V1386I +1 more)	Single nucleotide variant (missense variant)	Seckel syndrome 1 +3 more	GUncertain significance
Select item 1449067	NM_001184.4(ATR):c.4855T>C (p.Ser1619Pro)	ATR (S1619P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1448387	NM_001184.4(ATR):c.7487A>G (p.Asn2496Ser)	ATR (N2496S +1 more)	Single nucleotide variant (missense variant)	Seckel syndrome 1 +3 more	GUncertain significance
Select item 1448129	NM_001184.4(ATR):c.3955A>G (p.Ile1319Val)	ATR (I1255V +1 more)	Single nucleotide variant (missense variant)	Seckel syndrome 1 +3 more	GUncertain significance
Select item 1447751	NM_001184.4(ATR):c.647T>C (p.Ile216Thr)	ATR (I216T)	Single nucleotide variant (missense variant)	Seckel syndrome 1 +3 more	GUncertain significance

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