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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1296984	NM_004958.4(MTOR):c.7447+27C>A	MTOR	Single nucleotide variant (intron variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GLikely benign FDA Recognized database
Select item 417723	NM_004958.4(MTOR):c.7280T>C (p.Leu2427Pro)	MTOR (L2427P)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GPathogenic FDA Recognized database
Select item 858694	NM_004958.4(MTOR):c.6752G>A (p.Arg2251Gln)	MTOR (R2251Q)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GUncertain significance FDA Recognized database
Select item 376129	NM_004958.4(MTOR):c.6644C>A (p.Ser2215Tyr)	MTOR (S2215Y)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GPathogenic FDA Recognized database
Select item 156703	NM_004958.4(MTOR):c.6644C>T (p.Ser2215Phe)	MTOR (S2215F)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GPathogenic FDA Recognized database
Select item 1296985	NM_004958.4(MTOR):c.6440A>C (p.Asn2147Thr)	MTOR (N1731T +1 more)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GLikely benign FDA Recognized database
Select item 833713	NM_004958.4(MTOR):c.5978A>G (p.Lys1993Arg)	MTOR (K1993R)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GUncertain significance FDA Recognized database
Select item 1296989	NM_004958.4(MTOR):c.5930C>G (p.Thr1977Arg)	MTOR (T1561R +1 more)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GPathogenic FDA Recognized database
Select item 156702	NM_004958.4(MTOR):c.5930C>A (p.Thr1977Lys)	MTOR (T1977K)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GPathogenic FDA Recognized database
Select item 695823	NM_004958.4(MTOR):c.5501C>T (p.Thr1834Met)	MTOR (T1834M)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GLikely benign FDA Recognized database
Select item 664963	NM_004958.4(MTOR):c.5432G>T (p.Arg1811Leu)	MTOR (R1811L)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GUncertain significance FDA Recognized database
Select item 1296997	NM_004958.4(MTOR):c.5005G>T (p.Ala1669Ser)	MTOR (A1253S +1 more)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GLikely pathogenic FDA Recognized database
Select item 1296993	NM_004958.4(MTOR):c.4468T>C (p.Trp1490Arg)	MTOR (W1074R +1 more)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GLikely pathogenic FDA Recognized database
Select item 376453	NM_004958.4(MTOR):c.4448G>A (p.Cys1483Tyr)	MTOR (C1483Y)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GPathogenic FDA Recognized database
Select item 374796	NM_004958.4(MTOR):c.4447T>C (p.Cys1483Arg)	MTOR (C1483R)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GPathogenic FDA Recognized database
Select item 659938	NM_004958.4(MTOR):c.4382T>C (p.Val1461Ala)	MTOR (V1461A)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GUncertain significance FDA Recognized database
Select item 376130	NM_004958.4(MTOR):c.4379T>C (p.Leu1460Pro)	MTOR (L1460P)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GPathogenic FDA Recognized database
Select item 1296994	NM_004958.4(MTOR):c.4375G>T (p.Ala1459Ser)	MTOR (A1043S +1 more)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GUncertain significance FDA Recognized database
Select item 645465	NM_004958.4(MTOR):c.3646A>G (p.Ile1216Val)	MTOR (I1216V)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GLikely benign FDA Recognized database
Select item 1276811	NM_004958.4(MTOR):c.3117+34G>A	MTOR	Single nucleotide variant (intron variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GBenign FDA Recognized database
Select item 1296995	NM_004958.4(MTOR):c.3004C>T (p.Arg1002Ter)	MTOR (R1002* +1 more)	Single nucleotide variant (nonsense)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GUncertain significance FDA Recognized database
Select item 1296996	NM_004958.4(MTOR):c.1249A>G (p.Met417Val)	MTOR (M1V +1 more)	Single nucleotide variant (missense variant +1 more)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GUncertain significance FDA Recognized database
Select item 1296991	NM_004958.4(MTOR):c.997C>T (p.Leu333=)	MTOR	Single nucleotide variant (synonymous variant +1 more)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GUncertain significance FDA Recognized database
Select item 1296986	NM_004958.4(MTOR):c.706-18C>A	MTOR	Single nucleotide variant (intron variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GLikely benign FDA Recognized database
Select item 3520	NM_005957.5(MTHFR):c.665C>T (p.Ala222Val)	MTHFR (A222V +1 more)	Single nucleotide variant (missense variant)	methotrexate response - Toxicity	Gdrug response
Select item 227469	NM_004700.4(KCNQ4):c.720C>G (p.Thr240=)	KCNQ4	Single nucleotide variant (synonymous variant)	Nonsyndromic genetic hearing loss	GLikely benign FDA Recognized database
Select item 208366	NM_004700.4(KCNQ4):c.803CCT[1] (p.Ser269del)	KCNQ4 (S269del)	Microsatellite (inframe_deletion)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 505302	NM_004700.4(KCNQ4):c.825G>C (p.Trp275Cys)	KCNQ4 (W275C)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic FDA Recognized database
Select item 6241	NM_004700.4(KCNQ4):c.853G>A (p.Gly285Ser)	KCNQ4 (G285S)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 870342	NM_000329.3(RPE65):c.1597T>A (p.Ser533Thr)	RPE65 (S533T)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GUncertain significance FDA Recognized database
Select item 13120	NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp)	RPE65 (R515W)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 98848	NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp)	RPE65 (G484D)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GLikely pathogenic FDA Recognized database
Select item 98846	NM_000329.3(RPE65):c.1418T>A (p.Val473Asp)	RPE65 (V473D)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GLikely pathogenic FDA Recognized database
Select item 1069898	NM_000329.3(RPE65):c.1399C>G (p.Pro467Ala)	RPE65 (P467A)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 870343	NM_000329.3(RPE65):c.1380G>A (p.Trp460Ter)	RPE65 (W460*)	Single nucleotide variant (nonsense)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 427864	NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser)	RPE65 (R446S)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 3024118	NM_000329.3(RPE65):c.1336dup (p.Arg446fs)	RPE65 (R410fs +2 more)	Duplication (frameshift variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 870344	NM_000329.3(RPE65):c.1328T>C (p.Val443Ala)	RPE65 (V443A)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GLikely pathogenic FDA Recognized database
Select item 467825	NM_000329.3(RPE65):c.1302G>A (p.Ala434=)	RPE65	Single nucleotide variant (synonymous variant)	RPE65-related recessive retinopathy	GBenign FDA Recognized database
Select item 98836	NM_000329.3(RPE65):c.1301C>T (p.Ala434Val)	RPE65 (A434V)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GBenign FDA Recognized database
Select item 29873	NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys)	RPE65 (Y431C)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GLikely pathogenic FDA Recognized database
Select item 98835	NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln)	RPE65 (E417Q)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GLikely pathogenic FDA Recognized database
Select item 421620	NM_000329.3(RPE65):c.1244C>T (p.Ala415Val)	RPE65 (A415V)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GLikely pathogenic FDA Recognized database
Select item 772770	NM_000329.3(RPE65):c.1244-5C>T	RPE65	Single nucleotide variant (intron variant)	RPE65-related recessive retinopathy	GLikely benign FDA Recognized database
Select item 3024114	NM_000329.3(RPE65):c.1205_1206insCCTG (p.Trp402fs)	RPE65 (W366fs +2 more)	Insertion (frameshift variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 660359	NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter)	RPE65 (W402*)	Single nucleotide variant (nonsense)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 98828	NM_000329.3(RPE65):c.1155G>A (p.Thr385=)	RPE65	Single nucleotide variant (synonymous variant)	RPE65-related recessive retinopathy	GBenign FDA Recognized database
Select item 875116	NM_000329.3(RPE65):c.1129-5C>T	RPE65	Single nucleotide variant (intron variant)	RPE65-related recessive retinopathy	GUncertain significance FDA Recognized database
Select item 3024116	NM_000329.3(RPE65):c.1115del (p.Pro371_Leu372insTer)	RPE65	Deletion (nonsense)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 98826	NM_000329.3(RPE65):c.1103A>G (p.Tyr368Cys)	RPE65 (Y368C)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GLikely pathogenic FDA Recognized database
Select item 29870	NM_000329.3(RPE65):c.1102T>C (p.Tyr368His)	RPE65 (Y368H)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 13117	NM_000329.3(RPE65):c.1087C>A (p.Pro363Thr)	RPE65 (P363T)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 596673	NM_000329.3(RPE65):c.1067dup (p.Asn356fs)	RPE65 (N356fs)	Duplication (frameshift variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 98820	NM_000329.3(RPE65):c.1056G>A (p.Glu352=)	RPE65	Single nucleotide variant (synonymous variant)	RPE65-related recessive retinopathy	GBenign FDA Recognized database
Select item 13118	NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser)	RPE65 (L341S)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 1468758	NM_000329.3(RPE65):c.998+1G>A	RPE65	Single nucleotide variant (splice donor variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 658837	NM_000329.3(RPE65):c.991_993dup (p.Trp331dup)	RPE65	Duplication (inframe_insertion)	RPE65-related recessive retinopathy	GLikely pathogenic FDA Recognized database
Select item 298021	NM_000329.3(RPE65):c.975T>G (p.Ile325Met)	RPE65 (I325M)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GUncertain significance FDA Recognized database
Select item 92860	NM_000329.3(RPE65):c.963T>G (p.Asn321Lys)	RPE65 (N321K)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GBenign FDA Recognized database
Select item 29872	NM_000329.3(RPE65):c.907A>T (p.Lys303Ter)	RPE65 (K303*)	Single nucleotide variant (nonsense)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 3024115	NM_000329.3(RPE65):c.903T>C (p.Asn301=)	RPE65	Single nucleotide variant (synonymous variant)	RPE65-related recessive retinopathy	GLikely benign FDA Recognized database
Select item 874234	NM_000329.3(RPE65):c.902A>G (p.Asn301Ser)	RPE65 (N301S)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GUncertain significance FDA Recognized database
Select item 372493	NM_000329.3(RPE65):c.893del (p.Lys298fs)	RPE65 (K298fs)	Deletion (frameshift variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 1070755	NM_000329.3(RPE65):c.886dup (p.Arg296fs)	RPE65 (R296fs)	Duplication (frameshift variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 92859	NM_000329.3(RPE65):c.881A>C (p.Lys294Thr)	RPE65 (K294T)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GLikely benign FDA Recognized database
Select item 1213917	NM_000329.3(RPE65):c.859del	RPE65	Deletion (splice acceptor variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 3024120	NM_000329.3(RPE65):c.825C>A (p.Tyr275Ter)	RPE65 (Y275* +2 more)	Single nucleotide variant (nonsense)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 98889	NM_000329.3(RPE65):c.715T>G (p.Tyr239Asp)	RPE65 (Y239D)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 13114	NM_000329.3(RPE65):c.700C>T (p.Arg234Ter)	RPE65 (R234*)	Single nucleotide variant (nonsense)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 744318	NM_000329.3(RPE65):c.675C>A (p.Ile225=)	RPE65	Single nucleotide variant (synonymous variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 198416	NM_000329.3(RPE65):c.675C>G (p.Ile225Met)	RPE65 (I225M)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GLikely benign FDA Recognized database
Select item 98880	NM_000329.3(RPE65):c.615_616del (p.Ile206fs)	RPE65 (I206fs)	Deletion (frameshift variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 3024119	NM_000329.3(RPE65):c.596dup (p.Asn199fs)	RPE65 (N199fs +2 more)	Duplication (frameshift variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 767598	NM_000329.3(RPE65):c.585C>T (p.Cys195=)	RPE65	Single nucleotide variant (synonymous variant)	RPE65-related recessive retinopathy	GLikely benign FDA Recognized database
Select item 876133	NM_000329.3(RPE65):c.565G>A (p.Val189Ile)	RPE65 (V189I)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GUncertain significance FDA Recognized database
Select item 801497	NM_000329.3(RPE65):c.560G>A (p.Gly187Glu)	RPE65 (G187E)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 964193	NM_000329.3(RPE65):c.536C>T (p.Ala179Val)	RPE65 (A179V)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GLikely pathogenic FDA Recognized database
Select item 1067786	NM_000329.3(RPE65):c.496-1G>A	RPE65	Single nucleotide variant (splice acceptor variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 767213	NM_000329.3(RPE65):c.496-4G>A	RPE65	Single nucleotide variant (intron variant)	RPE65-related recessive retinopathy	GLikely benign FDA Recognized database
Select item 98872	NM_000329.3(RPE65):c.495+1dup	RPE65 (V166fs)	Duplication (frameshift variant +1 more)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 3024117	NM_000329.3(RPE65):c.434C>A (p.Ala145Asp)	RPE65 (A53D +2 more)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GLikely pathogenic FDA Recognized database
Select item 560497	NM_000329.3(RPE65):c.433G>C (p.Ala145Pro)	RPE65 (A145P)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GLikely pathogenic FDA Recognized database
Select item 467827	NM_000329.3(RPE65):c.419G>A (p.Gly140Glu)	RPE65 (G140E)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GLikely pathogenic FDA Recognized database
Select item 13119	NM_000329.3(RPE65):c.394G>A (p.Ala132Thr)	RPE65 (A132T)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GBenign FDA Recognized database
Select item 98866	NM_000329.3(RPE65):c.370C>T (p.Arg124Ter)	RPE65 (R124*)	Single nucleotide variant (nonsense)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 559521	NM_000329.3(RPE65):c.361dup (p.Ser121fs)	RPE65 (S121fs)	Duplication (frameshift variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 1117757	NM_000329.3(RPE65):c.353+7G>A	RPE65	Single nucleotide variant (intron variant)	RPE65-related recessive retinopathy	GUncertain significance FDA Recognized database
Select item 866507	NM_000329.3(RPE65):c.331C>A (p.Pro111Thr)	RPE65 (P111T)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GLikely pathogenic FDA Recognized database
Select item 281715	NM_000329.3(RPE65):c.331C>T (p.Pro111Ser)	RPE65 (P111S)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 962032	NM_000329.3(RPE65):c.314C>A (p.Thr105Asn)	RPE65 (T105N)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GUncertain significance FDA Recognized database
Select item 98860	NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs)	RPE65 (I98fs)	Deletion (frameshift variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 98863	NM_000329.3(RPE65):c.304G>T (p.Glu102Ter)	RPE65 (E102*)	Single nucleotide variant (nonsense)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 98857	NM_000329.3(RPE65):c.272G>A (p.Arg91Gln)	RPE65 (R91Q)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 1026379	NM_000329.3(RPE65):c.257C>A (p.Thr86Asn)	RPE65 (T86N)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GUncertain significance FDA Recognized database
Select item 973955	NM_000329.3(RPE65):c.246-11A>G	RPE65	Single nucleotide variant (intron variant)	RPE65-related recessive retinopathy	GLikely pathogenic FDA Recognized database
Select item 1068757	NM_000329.3(RPE65):c.200T>G (p.Leu67Arg)	RPE65 (L67R)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 1213912	NM_000329.3(RPE65):c.143G>A (p.Gly48Glu)	RPE65 (G48E)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GLikely pathogenic FDA Recognized database
Select item 374497	NM_000329.3(RPE65):c.130C>T (p.Arg44Ter)	RPE65 (R44*)	Single nucleotide variant (nonsense)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 1146046	NM_000329.3(RPE65):c.126C>T (p.Leu42=)	RPE65	Single nucleotide variant (synonymous variant)	RPE65-related recessive retinopathy	GLikely benign FDA Recognized database
Select item 98899	NM_000329.3(RPE65):c.95-2A>T	RPE65	Single nucleotide variant (splice acceptor variant +1 more)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database

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