ClinVar for Gene (Select 9739) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3372957	NM_014712.3(SETD1A):c.1364_1365inv (p.Glu455Val)	SETD1A (E455V)	Inversion (missense variant)	not provided	GUncertain significance
Select item 3372660	NM_014712.3(SETD1A):c.2954A>G (p.Glu985Gly)	SETD1A (E985G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372226	NM_014712.3(SETD1A):c.1310C>T (p.Pro437Leu)	SETD1A (P437L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371249	NM_014712.3(SETD1A):c.4228C>T (p.Pro1410Ser)	SETD1A (P1410S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371220	NM_014712.3(SETD1A):c.2272C>G (p.Pro758Ala)	SETD1A (P758A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371181	NM_014712.3(SETD1A):c.4024G>A (p.Val1342Met)	SETD1A (V1342M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371061	NM_014712.3(SETD1A):c.1312C>T (p.Pro438Ser)	SETD1A (P438S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370618	NM_014712.3(SETD1A):c.3572T>G (p.Phe1191Cys)	SETD1A (F1191C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370273	NM_014712.3(SETD1A):c.1197_1208del (p.Asn400_Glu403del)	SETD1A	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3369790	NM_014712.3(SETD1A):c.4625G>A (p.Arg1542Gln)	SETD1A (R1542Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369770	NM_014712.3(SETD1A):c.4429A>C (p.Lys1477Gln)	SETD1A (K1477Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369625	NM_014712.3(SETD1A):c.167C>T (p.Pro56Leu)	SETD1A (P56L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369597	NM_014712.3(SETD1A):c.3056T>C (p.Leu1019Pro)	SETD1A (L1019P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368608	NM_014712.3(SETD1A):c.4094GGGAGGAAGAGG[3] (p.Glu1372_Glu1373insGlyGluGluGlu)	SETD1A	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 3368596	NM_014712.3(SETD1A):c.1609G>T (p.Gly537Trp)	SETD1A (G537W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368358	NM_014712.3(SETD1A):c.1041_1049del (p.Ser355_Ser357del)	SETD1A	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3368203	NM_014712.3(SETD1A):c.38C>T (p.Pro13Leu)	SETD1A (P13L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367555	NM_014712.3(SETD1A):c.2933A>T (p.Glu978Val)	SETD1A (E978V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367123	NM_014712.3(SETD1A):c.3451C>G (p.Pro1151Ala)	SETD1A (P1151A)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with speech impairment and dysmorphic facies	GUncertain significance
Select item 3367055	NM_014712.3(SETD1A):c.4721G>A (p.Arg1574Gln)	SETD1A (R1574Q)	Single nucleotide variant (missense variant)	Epilepsy, early-onset, with or without developmental delay	GUncertain significance
Select item 3366132	NM_014712.3(SETD1A):c.4967A>G (p.Lys1656Arg)	SETD1A (K1656R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364451	NM_014712.3(SETD1A):c.4301G>T (p.Gly1434Val)	SETD1A (G1434V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363666	NM_014712.3(SETD1A):c.1376C>G (p.Ser459Cys)	SETD1A (S459C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363241	NM_014712.3(SETD1A):c.2909A>G (p.Gln970Arg)	SETD1A (Q970R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362719	NM_014712.3(SETD1A):c.3506C>A (p.Ser1169Tyr)	SETD1A (S1169Y)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with speech impairment and dysmorphic facies	GUncertain significance
Select item 3361999	NM_014712.3(SETD1A):c.587G>T (p.Gly196Val)	SETD1A (G196V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361406	NM_014712.3(SETD1A):c.3113C>T (p.Ser1038Phe)	SETD1A (S1038F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361033	NM_014712.3(SETD1A):c.1736C>T (p.Ser579Phe)	SETD1A (S579F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360908	NM_014712.3(SETD1A):c.3220C>G (p.Leu1074Val)	SETD1A (L1074V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360382	NM_014712.3(SETD1A):c.4836G>C (p.Lys1612Asn)	SETD1A (K1612N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360326	NM_014712.3(SETD1A):c.800C>T (p.Ser267Phe)	SETD1A (S267F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3356075	NM_014712.3(SETD1A):c.3509_3511del (p.Phe1170del)	SETD1A (F1170del)	Deletion (inframe_deletion)	SETD1A-related disorder	GUncertain significance
Select item 3352507	NM_014712.3(SETD1A):c.2889C>T (p.Ser963=)	SETD1A	Single nucleotide variant (synonymous variant)	SETD1A-related disorder	GBenign
Select item 3350127	NM_014712.3(SETD1A):c.4198C>A (p.Arg1400Ser)	SETD1A (R1400S)	Single nucleotide variant (missense variant)	SETD1A-related disorder	GUncertain significance
Select item 3350104	NM_014712.3(SETD1A):c.1802C>G (p.Pro601Arg)	SETD1A (P601R)	Single nucleotide variant (missense variant)	SETD1A-related disorder	GUncertain significance
Select item 3345193	NM_014712.3(SETD1A):c.3410C>T (p.Pro1137Leu)	SETD1A (P1137L)	Single nucleotide variant (missense variant)	SETD1A-related disorder	GUncertain significance
Select item 3342979	NM_014712.3(SETD1A):c.4336A>C (p.Thr1446Pro)	SETD1A (T1446P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342435	NM_014712.3(SETD1A):c.4484G>A (p.Arg1495His)	SETD1A (R1495H)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3342014	NM_014712.3(SETD1A):c.970T>C (p.Ser324Pro)	SETD1A (S324P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341867	NM_014712.3(SETD1A):c.2151G>A (p.Pro717=)	SETD1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3341864	NM_014712.3(SETD1A):c.3327C>T (p.Pro1109=)	SETD1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3341779	NM_014712.3(SETD1A):c.3237G>A (p.Pro1079=)	SETD1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3341718	NM_014712.3(SETD1A):c.3197A>T (p.Glu1066Val)	SETD1A (E1066V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3341566	NM_014712.3(SETD1A):c.3846A>G (p.Thr1282=)	SETD1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3339807	NM_014712.3(SETD1A):c.4163C>A (p.Ala1388Asp)	SETD1A (A1388D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339526	NM_014712.3(SETD1A):c.694A>G (p.Thr232Ala)	SETD1A (T232A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336428	NM_014712.3(SETD1A):c.4186T>C (p.Ser1396Pro)	SETD1A (S1396P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3336414	NM_014712.3(SETD1A):c.4209_4236del (p.Pro1404fs)	SETD1A (P1404fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with speech impairment and dysmorphic facies	GPathogenic
Select item 3317707	NM_014712.3(SETD1A):c.2254A>G (p.Met752Val)	SETD1A (M752V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3317706	NM_014712.3(SETD1A):c.1726C>T (p.Pro576Ser)	SETD1A (P576S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3317705	NM_014712.3(SETD1A):c.271A>G (p.Ile91Val)	SETD1A (I91V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3317704	NM_014712.3(SETD1A):c.4370C>A (p.Ala1457Asp)	SETD1A (A1457D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3317702	NM_014712.3(SETD1A):c.4369G>A (p.Ala1457Thr)	SETD1A (A1457T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3317701	NM_014712.3(SETD1A):c.731C>T (p.Ser244Phe)	SETD1A (S244F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3317700	NM_014712.3(SETD1A):c.3171del (p.Ser1058fs)	SETD1A (S1058fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 3317699	NM_014712.3(SETD1A):c.3358+1G>C	SETD1A	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GUncertain significance
Select item 3317698	NM_014712.3(SETD1A):c.4225C>G (p.Pro1409Ala)	SETD1A (P1409A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3317697	NM_014712.3(SETD1A):c.3541C>A (p.Pro1181Thr)	SETD1A (P1181T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3317696	NM_014712.3(SETD1A):c.2789A>C (p.Glu930Ala)	SETD1A (E930A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3317695	NM_014712.3(SETD1A):c.767C>T (p.Thr256Ile)	SETD1A (T256I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3317693	NM_014712.3(SETD1A):c.2866C>T (p.Arg956Cys)	SETD1A (R956C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3317692	NM_014712.3(SETD1A):c.4150G>A (p.Asp1384Asn)	SETD1A (D1384N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3317691	NM_014712.3(SETD1A):c.2714A>G (p.Glu905Gly)	SETD1A (E905G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3317690	NM_014712.3(SETD1A):c.3614G>A (p.Arg1205Gln)	SETD1A (R1205Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3317689	NM_014712.3(SETD1A):c.2150C>T (p.Pro717Leu)	SETD1A (P717L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3317688	NM_014712.3(SETD1A):c.4544C>T (p.Pro1515Leu)	SETD1A (P1515L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3317687	NM_014712.3(SETD1A):c.3707G>A (p.Arg1236Gln)	SETD1A (R1236Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3317686	NM_014712.3(SETD1A):c.4037C>T (p.Ala1346Val)	SETD1A (A1346V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3256908	NM_014712.3(SETD1A):c.4711C>T (p.Arg1571Ter)	SETD1A (R1571*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with speech impairment and dysmorphic facies	GLikely pathogenic
Select item 3251783	NM_014712.3(SETD1A):c.3848C>T (p.Ser1283Leu)	SETD1A (S1283L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251763	NM_014712.3(SETD1A):c.632C>T (p.Thr211Ile)	SETD1A (T211I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251709	NM_014712.3(SETD1A):c.2519C>T (p.Ala840Val)	SETD1A (A840V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250825	NM_014712.3(SETD1A):c.1201A>G (p.Thr401Ala)	SETD1A (T401A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3250813	NM_014712.3(SETD1A):c.2769C>T (p.Asp923=)	SETD1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3250735	NM_014712.3(SETD1A):c.1656A>G (p.Ala552=)	SETD1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3250715	NM_014712.3(SETD1A):c.3915C>T (p.Ala1305=)	SETD1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3243573	NC_000016.9:g.(?_28889993)_(31202759_?)del	ALDOA, ASPHD1 +76 more	Deletion	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 3239447	NM_014712.3(SETD1A):c.722C>T (p.Thr241Ile)	SETD1A (T241I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3239019	NM_014712.3(SETD1A):c.1263C>T (p.Thr421=)	SETD1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3237527	NM_014712.3(SETD1A):c.1025C>G (p.Ser342Cys)	SETD1A (S342C)	Single nucleotide variant (missense variant)	Epilepsy, early-onset, with or without developmental delay	GUncertain significance
Select item 3236444	NM_014712.3(SETD1A):c.1369C>G (p.Arg457Gly)	SETD1A (R457G)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with speech impairment and dysmorphic facies	GUncertain significance
Select item 3234454	NM_014712.3(SETD1A):c.1173A>C (p.Glu391Asp)	SETD1A (E391D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3234213	NM_014712.3(SETD1A):c.2682+8_2682+9del	SETD1A	Deletion (intron variant)	not provided	GLikely benign
Select item 3233972	NM_014712.3(SETD1A):c.2353C>T (p.Leu785Phe)	SETD1A (L785F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160601	NM_014712.3(SETD1A):c.811A>G (p.Thr271Ala)	SETD1A (T271A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3160600	NM_014712.3(SETD1A):c.695C>T (p.Thr232Ile)	SETD1A (T232I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160599	NM_014712.3(SETD1A):c.671C>A (p.Thr224Lys)	SETD1A (T224K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160598	NM_014712.3(SETD1A):c.645A>C (p.Glu215Asp)	SETD1A (E215D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160597	NM_014712.3(SETD1A):c.644A>C (p.Glu215Ala)	SETD1A (E215A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160596	NM_014712.3(SETD1A):c.4968G>C (p.Lys1656Asn)	SETD1A (K1656N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160595	NM_014712.3(SETD1A):c.4651G>A (p.Ala1551Thr)	SETD1A (A1551T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160594	NM_014712.3(SETD1A):c.4165C>G (p.Leu1389Val)	SETD1A (L1389V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3160593	NM_014712.3(SETD1A):c.3961G>A (p.Val1321Met)	SETD1A (V1321M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160591	NM_014712.3(SETD1A):c.3519C>G (p.Ile1173Met)	SETD1A (I1173M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160590	NM_014712.3(SETD1A):c.34G>A (p.Ala12Thr)	SETD1A (A12T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160589	NM_014712.3(SETD1A):c.3449G>A (p.Arg1150His)	SETD1A (R1150H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160588	NM_014712.3(SETD1A):c.3406C>G (p.Pro1136Ala)	SETD1A (P1136A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160587	NM_014712.3(SETD1A):c.3372G>T (p.Glu1124Asp)	SETD1A (E1124D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160585	NM_014712.3(SETD1A):c.3083A>G (p.Asp1028Gly)	SETD1A (D1028G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160584	NM_014712.3(SETD1A):c.3014A>G (p.Asp1005Gly)	SETD1A (D1005G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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