"PreventionGenetics, part of Exact Sciences"[submitter] AND "EP300"[ge - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3055114	NM_001429.4(EP300):c.-9G>T	EP300	Single nucleotide variant (5 prime UTR variant)	EP300-related disorder	GLikely benign
Select item 719791	NM_001429.4(EP300):c.12T>C (p.Asn4=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related disorder +1 more	GLikely benign
Select item 3038262	NM_001429.4(EP300):c.29C>G (p.Pro10Arg)	EP300 (P10R)	Single nucleotide variant (missense variant)	EP300-related disorder	GLikely benign
Select item 2195143	NM_001429.4(EP300):c.31C>T (p.Pro11Ser)	EP300 (P11S)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +1 more	GConflicting classifications of pathogenicity
Select item 1254642	NM_001429.4(EP300):c.45G>A (p.Arg15=)	EP300, LOC130067530	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +2 more	GBenign/Likely benign
Select item 2629224	NM_001429.4(EP300):c.88G>A (p.Gly30Ser)	EP300, LOC130067530 (G30S)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +1 more	GUncertain significance
Select item 3033504	NM_001429.4(EP300):c.94+9C>T	LOC130067530, EP300	Single nucleotide variant (intron variant)	EP300-related disorder	GLikely benign
Select item 258098	NM_001429.4(EP300):c.95-16T>C	EP300	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 341774	NM_001429.4(EP300):c.157T>C (p.Leu53=)	EP300	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +1 more	GLikely benign
Select item 1925934	NM_001429.4(EP300):c.170A>G (p.Asn57Ser)	EP300 (N57S)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +1 more	GUncertain significance
Select item 1298318	NM_001429.4(EP300):c.214C>A (p.Gln72Lys)	EP300 (Q72K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1961256	NM_001429.4(EP300):c.231A>G (p.Lys77=)	EP300	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2632647	NM_001429.4(EP300):c.238C>G (p.Gln80Glu)	EP300 (Q80E)	Single nucleotide variant (missense variant)	EP300-related disorder	GUncertain significance
Select item 1388681	NM_001429.4(EP300):c.271C>T (p.Pro91Ser)	EP300 (P91S)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +1 more	GConflicting classifications of pathogenicity
Select item 2634758	NM_001429.4(EP300):c.311T>C (p.Met104Thr)	EP300 (M104T)	Single nucleotide variant (missense variant)	EP300-related disorder	GUncertain significance
Select item 134041	NM_001429.4(EP300):c.316A>G (p.Ser106Gly)	EP300 (S106G)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +2 more	GBenign/Likely benign
Select item 341775	NM_001429.4(EP300):c.324C>T (p.Ala108=)	EP300	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +3 more	GBenign/Likely benign
Select item 2636583	NM_001429.4(EP300):c.362T>C (p.Met121Thr)	EP300 (M121T)	Single nucleotide variant (missense variant)	EP300-related disorder	GUncertain significance
Select item 134042	NM_001429.4(EP300):c.376A>G (p.Met126Val)	EP300 (M126V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2637083	NM_001429.4(EP300):c.383A>T (p.Gln128Leu)	EP300 (Q128L)	Single nucleotide variant (missense variant)	EP300-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3035831	NM_001429.4(EP300):c.394A>T (p.Thr132Ser)	EP300 (T132S)	Single nucleotide variant (missense variant)	EP300-related disorder	GUncertain significance
Select item 3048265	NM_001429.4(EP300):c.444G>C (p.Thr148=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related disorder	GLikely benign
Select item 341776	NM_001429.4(EP300):c.444G>A (p.Thr148=)	EP300	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +2 more	GLikely benign
Select item 1591621	NM_001429.4(EP300):c.448T>C (p.Ser150Pro)	EP300 (S150P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1350847	NM_001429.4(EP300):c.454G>A (p.Gly152Ser)	EP300 (G152S)	Single nucleotide variant (missense variant)	EP300-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 2632645	NM_001429.4(EP300):c.478C>T (p.Gln160Ter)	EP300 (Q160*)	Single nucleotide variant (nonsense)	EP300-related disorder	GPathogenic
Select item 2301336	NM_001429.4(EP300):c.494T>C (p.Met165Thr)	EP300 (M165T)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +2 more	GUncertain significance
Select item 341778	NM_001429.4(EP300):c.513G>A (p.Ala171=)	EP300	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1282561	NM_001429.4(EP300):c.579C>T (p.Asn193=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related disorder +2 more	GBenign/Likely benign
Select item 158567	NM_001429.4(EP300):c.586A>G (p.Ile196Val)	EP300 (I196V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 134043	NM_001429.4(EP300):c.631G>A (p.Gly211Ser)	EP300 (G211S)	Single nucleotide variant (missense variant)	Menke-Hennekam syndrome 2 +6 more	GBenign
Select item 975546	NM_001429.4(EP300):c.650A>G (p.Asn217Ser)	EP300 (N217S)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +2 more	GLikely benign
Select item 2716494	NM_001429.4(EP300):c.667C>G (p.Leu223Val)	EP300 (L223V)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +1 more	GConflicting classifications of pathogenicity
Select item 341781	NM_001429.4(EP300):c.678C>G (p.Gly226=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related disorder +2 more	GBenign/Likely benign
Select item 1049476	NM_001429.4(EP300):c.695G>C (p.Gly232Ala)	EP300 (G232A)	Single nucleotide variant (missense variant)	Menke-Hennekam syndrome 2 +4 more	GConflicting classifications of pathogenicity
Select item 2062549	NM_001429.4(EP300):c.713G>A (p.Gly238Asp)	EP300 (G238D)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +1 more	GConflicting classifications of pathogenicity
Select item 2634564	NM_001429.4(EP300):c.721C>T (p.Pro241Ser)	EP300 (P241S)	Single nucleotide variant (missense variant)	EP300-related disorder +1 more	GUncertain significance
Select item 3044274	NM_001429.4(EP300):c.726T>C (p.Leu242=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related disorder	GLikely benign
Select item 93745	NM_001429.4(EP300):c.730-18_730-9del	EP300	Deletion (intron variant)	not specified +3 more	GBenign
Select item 1598241	NM_001429.4(EP300):c.730-7_730-2del	EP300	Deletion (splice acceptor variant)	EP300-related disorder +1 more	GLikely benign
Select item 2152832	NM_001429.4(EP300):c.730-5C>T	EP300	Single nucleotide variant (intron variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +1 more	GLikely benign
Select item 3061584	NM_001429.4(EP300):c.735A>C (p.Gly245=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related disorder	GLikely benign
Select item 281866	NM_001429.4(EP300):c.739A>G (p.Met247Val)	EP300 (M247V)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +2 more	GConflicting classifications of pathogenicity
Select item 134045	NM_001429.4(EP300):c.752A>G (p.Asn251Ser)	EP300 (N251S)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +2 more	GBenign/Likely benign
Select item 2393470	NM_001429.4(EP300):c.772A>G (p.Thr258Ala)	EP300 (T258A)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +2 more	GLikely benign
Select item 341784	NM_001429.4(EP300):c.781C>T (p.Pro261Ser)	EP300 (P261S)	Single nucleotide variant (missense variant)	EP300-related disorder +2 more	GLikely benign
Select item 2632110	NM_001429.4(EP300):c.795T>G (p.Ile265Met)	EP300 (I265M)	Single nucleotide variant (missense variant)	EP300-related disorder	GUncertain significance
Select item 2140246	NM_001429.4(EP300):c.853T>C (p.Ser285Pro)	EP300 (S285P)	Single nucleotide variant (missense variant)	EP300-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 134046	NM_001429.4(EP300):c.865A>G (p.Met289Val)	EP300 (M289V)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 2632377	NM_001429.4(EP300):c.901A>G (p.Asn301Asp)	EP300 (N301D)	Single nucleotide variant (missense variant)	EP300-related disorder +1 more	GUncertain significance
Select item 774371	NM_001429.4(EP300):c.907-10T>C	EP300	Single nucleotide variant (intron variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +2 more	GBenign/Likely benign
Select item 3030374	NM_001429.4(EP300):c.907-9A>G	EP300	Single nucleotide variant (intron variant)	EP300-related disorder	GLikely benign
Select item 134062	NM_001429.4(EP300):c.923C>T (p.Pro308Leu)	EP300 (P308L)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +1 more	GBenign/Likely benign
Select item 218590	NM_001429.4(EP300):c.952C>G (p.Pro318Ala)	EP300 (P318A)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 987872	NM_001429.4(EP300):c.1094A>G (p.Asn365Ser)	EP300 (N365S)	Single nucleotide variant (missense variant)	EP300-related disorder +1 more	GUncertain significance
Select item 712720	NM_001429.4(EP300):c.1104C>T (p.His368=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related disorder +2 more	GBenign/Likely benign
Select item 134063	NM_001429.4(EP300):c.1150T>G (p.Ser384Ala)	EP300 (S384A)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +1 more	GConflicting classifications of pathogenicity
Select item 3058027	NM_001429.4(EP300):c.1168+10C>T	EP300	Single nucleotide variant (intron variant)	EP300-related disorder	GLikely benign
Select item 258094	NM_001429.4(EP300):c.1168+18G>A	EP300	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 3042622	NM_001429.4(EP300):c.1285A>G (p.Ile429Val)	EP300 (I429V)	Single nucleotide variant (missense variant)	EP300-related disorder	GLikely benign
Select item 2637407	NM_001429.4(EP300):c.1287T>G (p.Ile429Met)	EP300 (I429M)	Single nucleotide variant (missense variant)	EP300-related disorder	GUncertain significance
Select item 2629951	NM_001429.4(EP300):c.1334T>A (p.Val445Glu)	EP300 (V445E)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +1 more	GConflicting classifications of pathogenicity
Select item 2175143	NM_001429.4(EP300):c.1449A>C (p.Gln483His)	EP300 (Q483H)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +1 more	GConflicting classifications of pathogenicity
Select item 594691	NM_001429.4(EP300):c.1453C>A (p.Gln485Lys)	EP300 (Q485K)	Single nucleotide variant (missense variant)	EP300-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2631309	NM_001429.4(EP300):c.1467G>T (p.Lys489Asn)	EP300 (K489N)	Single nucleotide variant (missense variant)	EP300-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 134065	NM_001429.4(EP300):c.1519A>G (p.Ser507Gly)	EP300 (S507G)	Single nucleotide variant (missense variant)	Menke-Hennekam syndrome 2 +5 more	GBenign/Likely benign
Select item 2636898	NM_001429.4(EP300):c.1529-4T>G	EP300	Single nucleotide variant (intron variant)	EP300-related disorder	GUncertain significance
Select item 1110218	NM_001429.4(EP300):c.1539T>C (p.Pro513=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related disorder +1 more	GLikely benign
Select item 341788	NM_001429.4(EP300):c.1540A>G (p.Met514Val)	EP300 (M514V)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +1 more	GConflicting classifications of pathogenicity
Select item 502213	NM_001429.4(EP300):c.1572G>A (p.Thr524=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3034952	NM_001429.4(EP300):c.1594A>G (p.Met532Val)	EP300 (M532V)	Single nucleotide variant (missense variant)	EP300-related disorder	GLikely benign
Select item 1195104	NM_001429.4(EP300):c.1608C>A (p.Ala536=)	EP300	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3031195	NM_001429.4(EP300):c.1638A>G (p.Glu546=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related disorder	GLikely benign
Select item 778975	NM_001429.4(EP300):c.1686A>C (p.Pro562=)	EP300	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +2 more	GBenign/Likely benign
Select item 2635798	NM_001429.4(EP300):c.1709A>G (p.Gln570Arg)	EP300 (Q570R)	Single nucleotide variant (missense variant)	EP300-related disorder	GUncertain significance
Select item 977155	NM_001429.4(EP300):c.1781C>T (p.Thr594Met)	EP300 (T594M)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +5 more	GConflicting classifications of pathogenicity
Select item 158557	NM_001429.4(EP300):c.1782G>C (p.Thr594=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related disorder +3 more	GBenign/Likely benign
Select item 3061305	NM_001429.4(EP300):c.1931T>G (p.Leu644Arg)	EP300 (L644R)	Single nucleotide variant (missense variant)	EP300-related disorder	GUncertain significance
Select item 2467748	NM_001429.4(EP300):c.1972C>A (p.Leu658Ile)	EP300 (L658I)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +2 more	GConflicting classifications of pathogenicity
Select item 2707947	NM_001429.4(EP300):c.1983T>C (p.Ala661=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related disorder +1 more	GBenign/Likely benign
Select item 732746	NM_001429.4(EP300):c.1998A>G (p.Pro666=)	EP300	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 158558	NM_001429.4(EP300):c.2019T>C (p.Pro673=)	EP300	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +2 more	GConflicting classifications of pathogenicity
Select item 2634810	NM_001429.4(EP300):c.2020A>G (p.Asn674Asp)	EP300 (N674D)	Single nucleotide variant (missense variant)	EP300-related disorder	GUncertain significance
Select item 2653197	NM_001429.4(EP300):c.2034G>A (p.Pro678=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related disorder +2 more	GLikely benign
Select item 2895293	NM_001429.4(EP300):c.2053+8_2053+11del	EP300	Deletion (intron variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +1 more	GLikely benign
Select item 93732	NM_001429.4(EP300):c.2053+8G>T	EP300	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 193844	NM_001429.4(EP300):c.2064A>G (p.Leu688=)	EP300	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 2040538	NM_001429.4(EP300):c.2077A>G (p.Met693Val)	EP300 (M693V)	Single nucleotide variant (missense variant +1 more)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +2 more	GConflicting classifications of pathogenicity
Select item 2628544	NM_001429.4(EP300):c.2083C>T (p.Arg695Cys)	EP300 (R695C)	Single nucleotide variant (missense variant +1 more)	EP300-related disorder	GUncertain significance
Select item 2914380	NM_001429.4(EP300):c.2104A>G (p.Met702Val)	EP300 (M702V)	Single nucleotide variant (missense variant +1 more)	EP300-related disorder +1 more	GUncertain significance
Select item 1290618	NM_001429.4(EP300):c.2110C>T (p.Pro704Ser)	EP300 (P704S)	Single nucleotide variant (missense variant +1 more)	EP300-related disorder +2 more	GBenign/Likely benign
Select item 93733	NM_001429.4(EP300):c.2131+18T>A	EP300	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 3048369	NM_001429.4(EP300):c.2132-9T>C	EP300	Single nucleotide variant (intron variant)	EP300-related disorder	GLikely benign
Select item 726581	NM_001429.4(EP300):c.2145T>C (p.Phe715=)	EP300	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +1 more	GLikely benign
Select item 2728758	NM_001429.4(EP300):c.2181C>T (p.Pro727=)	EP300	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +1 more	GBenign/Likely benign
Select item 2155421	NM_001429.4(EP300):c.2183G>A (p.Arg728Gln)	EP300 (R702Q +1 more)	Single nucleotide variant (missense variant)	EP300-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2080051	NM_001429.4(EP300):c.2184G>T (p.Arg728=)	EP300	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +1 more	GLikely benign
Select item 985497	NM_001429.4(EP300):c.2213A>G (p.Gln738Arg)	EP300 (Q712R +1 more)	Single nucleotide variant (missense variant)	EP300-related disorder +1 more	GUncertain significance
Select item 2636476	NM_001429.4(EP300):c.2224C>T (p.Pro742Ser)	EP300 (P716S +1 more)	Single nucleotide variant (missense variant)	EP300-related disorder	GUncertain significance
Select item 2653199	NM_001429.4(EP300):c.2232T>G (p.Ala744=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related disorder +1 more	GLikely benign

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