ClinVar for MedGen (Select 462291) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 1000

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377311	NM_001429.4(EP300):c.4617+5G>A	EP300	Single nucleotide variant (intron variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 3377305	NM_001429.4(EP300):c.1192C>T (p.Gln398Ter)	EP300 (Q398*)	Single nucleotide variant (nonsense)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GPathogenic
Select item 3366946	NM_001429.4(EP300):c.5366GCT[1] (p.Cys1790del)	EP300 (C1764del +1 more)	Microsatellite (inframe_deletion)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +1 more	GLikely pathogenic
Select item 3362786	NM_001429.4(EP300):c.1921C>A (p.Gln641Lys)	EP300 (Q641K)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely pathogenic
Select item 3362718	NM_001429.4(EP300):c.2659A>G (p.Thr887Ala)	EP300 (T861A +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 3362359	NM_001429.4(EP300):c.5586del (p.Gln1862fs)	EP300 (Q1836fs +1 more)	Deletion (frameshift variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 3338098	NM_001429.4(EP300):c.1155_1156del (p.Lys386fs)	EP300 (K386fs)	Deletion (frameshift variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely pathogenic
Select item 3255220	NM_001429.4(EP300):c.4408dup (p.Met1470fs)	EP300 (M1444fs +1 more)	Duplication (frameshift variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GPathogenic
Select item 3251937	NM_001429.4(EP300):c.369_370dup (p.Ser124fs)	EP300 (S124fs)	Duplication (frameshift variant)	Menke-Hennekam syndrome 2 +1 more	GLikely pathogenic
Select item 3247973	NC_000022.10:g.(?_41566450)_(41572658_?)del	EP300	Deletion	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely pathogenic
Select item 3247962	NC_000022.10:g.(?_41531797)_(41566595_?)dup	EP300	Duplication	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely pathogenic
Select item 3247951	NC_000022.10:g.(?_39306081)_(41904073_?)dup	ACO2, ADSL +42 more	Duplication	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 3247940	NC_000022.10:g.(?_41564433)_(41566595_?)del	EP300	Deletion	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GPathogenic
Select item 3236763	NM_001429.4(EP300):c.3935G>A (p.Arg1312Gln)	EP300 (R1286Q +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 3236129	NM_001429.4(EP300):c.4507T>C (p.Tyr1503His)	EP300 (Y1477H +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 3235954	NM_001429.4(EP300):c.6833_6842dup (p.Gln2281fs)	EP300 (Q2255fs +1 more)	Duplication (frameshift variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 3235079	NM_001429.4(EP300):c.1225C>T (p.His409Tyr)	EP300 (H409Y)	Single nucleotide variant (missense variant)	Menke-Hennekam syndrome 2 +1 more	GUncertain significance
Select item 3065058	NM_001429.4(EP300):c.3644dup (p.Leu1215fs)	EP300 (L1189fs +1 more)	Duplication (frameshift variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 3064989	NM_001429.4(EP300):c.6160C>A (p.Leu2054Ile)	EP300 (L2028I +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 3064981	NM_001429.4(EP300):c.3644del (p.Leu1215fs)	EP300 (L1189fs +1 more)	Deletion (frameshift variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 3062160	NM_001429.4(EP300):c.1528+3_1528+10del	EP300	Deletion (splice donor variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 3062060	NM_001429.4(EP300):c.5688_5689del (p.Ser1897fs)	EP300 (S1871fs +1 more)	Microsatellite (frameshift variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GPathogenic
Select item 3022979	NM_001429.4(EP300):c.2534C>T (p.Thr845Ile)	EP300 (T845I +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 3022759	NM_001429.4(EP300):c.4149T>C (p.Ser1383=)	EP300	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 3021297	NM_001429.4(EP300):c.898C>T (p.Pro300Ser)	EP300 (P300S)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 3016518	NM_001429.4(EP300):c.770A>G (p.Tyr257Cys)	EP300 (Y257C)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 3015716	NM_001429.4(EP300):c.94+10G>A	EP300, LOC130067530	Single nucleotide variant (intron variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 3015549	NM_001429.4(EP300):c.4668C>T (p.Thr1556=)	EP300	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 3014655	NM_001429.4(EP300):c.4221A>G (p.Lys1407=)	EP300	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 3014095	NM_001429.4(EP300):c.1465A>G (p.Lys489Glu)	EP300 (K489E)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 3012175	NM_001429.4(EP300):c.4740C>T (p.Leu1580=)	EP300	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 3011970	NM_001429.4(EP300):c.730-10T>A	EP300	Single nucleotide variant (intron variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 3010714	NM_001429.4(EP300):c.1671A>G (p.Pro557=)	EP300	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 3010204	NM_001429.4(EP300):c.4512C>T (p.Phe1504=)	EP300	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 3010094	NM_001429.4(EP300):c.1761-10C>G	EP300	Single nucleotide variant (intron variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 3010062	NM_001429.4(EP300):c.3636C>T (p.Ser1212=)	EP300	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GBenign
Select item 3008052	NM_001429.4(EP300):c.189G>C (p.Gln63His)	EP300 (Q63H)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 3004685	NM_001429.4(EP300):c.2730C>T (p.Pro910=)	EP300	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 3001536	NM_001429.4(EP300):c.7121C>T (p.Ser2374Phe)	EP300 (S2348F +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 2998945	NM_001429.4(EP300):c.1635T>A (p.Ser545Arg)	EP300 (S545R)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2998446	NM_001429.4(EP300):c.6975C>T (p.Ser2325=)	EP300	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2998275	NM_001429.4(EP300):c.1585T>C (p.Ser529Pro)	EP300 (S529P)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2996648	NM_001429.4(EP300):c.5288G>A (p.Arg1763Gln)	EP300 (R1737Q +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 2995899	NM_001429.4(EP300):c.5713G>A (p.Val1905Met)	EP300 (V1879M +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 2994765	NM_001429.4(EP300):c.3729-6T>C	EP300	Single nucleotide variant (intron variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2992935	NM_001429.4(EP300):c.3142+17A>T	EP300, LOC126863158	Single nucleotide variant (intron variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2991315	NM_001429.4(EP300):c.2191C>T (p.Pro731Ser)	EP300 (P705S +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 2988935	NM_001429.4(EP300):c.2690T>C (p.Val897Ala)	EP300 (V871A +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2988219	NM_001429.4(EP300):c.2802G>T (p.Pro934=)	EP300	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2988124	NM_001429.4(EP300):c.6195G>A (p.Leu2065=)	EP300	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2987831	NM_001429.4(EP300):c.1152A>G (p.Ser384=)	EP300	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GBenign
Select item 2987053	NM_001429.4(EP300):c.1622+10A>T	EP300	Single nucleotide variant (intron variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2985545	NM_001429.4(EP300):c.4828C>T (p.Pro1610Ser)	EP300 (P1584S +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2984880	NM_001429.4(EP300):c.6667C>A (p.Gln2223Lys)	EP300 (Q2223K +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 2983472	NM_001429.4(EP300):c.4617+13A>G	EP300	Single nucleotide variant (intron variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2982708	NM_001429.4(EP300):c.3728+13C>T	EP300	Single nucleotide variant (intron variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2982224	NM_001429.4(EP300):c.3464C>T (p.Pro1155Leu)	EP300 (P1155L +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 2979688	NM_001429.4(EP300):c.2917T>G (p.Ser973Ala)	EP300, LOC126863158 (S947A +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2979664	NM_001429.4(EP300):c.4287-20C>G	EP300	Single nucleotide variant (intron variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2978296	NM_001429.4(EP300):c.6787C>T (p.Arg2263Ter)	EP300 (R2263* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2973028	NM_001429.4(EP300):c.1282+1G>A	EP300	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2971660	NM_001429.4(EP300):c.5331C>G (p.Gly1777=)	EP300	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2970907	NM_001429.4(EP300):c.6546C>A (p.Ile2182=)	EP300	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2969261	NM_001429.4(EP300):c.3143-15C>A	EP300	Single nucleotide variant (intron variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2965940	NM_001429.4(EP300):c.1673C>G (p.Thr558Arg)	EP300 (T558R)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 2965660	NM_001429.4(EP300):c.729+8C>T	EP300	Single nucleotide variant (intron variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2963571	NM_001429.4(EP300):c.2636A>C (p.His879Pro)	EP300 (H853P +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2962947	NM_001429.4(EP300):c.3123A>G (p.Pro1041=)	EP300, LOC126863158	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2962027	NM_001429.4(EP300):c.5957C>A (p.Pro1986Gln)	EP300 (P1960Q +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2959593	NM_001429.4(EP300):c.3261+14G>A	EP300	Single nucleotide variant (intron variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2959527	NM_001429.4(EP300):c.7054G>A (p.Val2352Ile)	EP300 (V2352I +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 2958826	NM_001429.4(EP300):c.6240G>A (p.Leu2080=)	EP300	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GBenign
Select item 2954651	NM_001429.4(EP300):c.3675A>G (p.Thr1225=)	EP300	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2920039	NM_001429.4(EP300):c.2974A>G (p.Thr992Ala)	EP300, LOC126863158 (T966A +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2919298	NM_001429.4(EP300):c.5062-18C>T	EP300	Single nucleotide variant (intron variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2918540	NM_001429.4(EP300):c.5076T>C (p.Cys1692=)	EP300	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2918450	NM_001429.4(EP300):c.5388C>T (p.Cys1796=)	EP300	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2917964	NM_001429.4(EP300):c.4829C>T (p.Pro1610Leu)	EP300 (P1610L +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 2917310	NM_001429.4(EP300):c.5866A>G (p.Met1956Val)	EP300 (M1956V +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 2916813	NM_001429.4(EP300):c.3357T>C (p.Asp1119=)	EP300	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2916066	NM_001429.4(EP300):c.63G>C (p.Pro21=)	EP300, LOC130067530	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GBenign
Select item 2915708	NM_001429.4(EP300):c.907-14G>A	EP300	Single nucleotide variant (intron variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2915176	NM_001429.4(EP300):c.3728+8C>T	EP300	Single nucleotide variant (intron variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2914380	NM_001429.4(EP300):c.2104A>G (p.Met702Val)	EP300 (M702V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2914181	NM_001429.4(EP300):c.2891C>A (p.Ser964Tyr)	EP300, LOC126863158 (S938Y +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 2914089	NM_001429.4(EP300):c.955G>A (p.Val319Ile)	EP300 (V319I)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GBenign
Select item 2913478	NM_001429.4(EP300):c.6193C>T (p.Leu2065=)	EP300	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2912961	NM_001429.4(EP300):c.4025+12T>A	EP300	Single nucleotide variant (intron variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2912571	NM_001429.4(EP300):c.3827T>C (p.Leu1276Ser)	EP300 (L1276S +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 2911995	NM_001429.4(EP300):c.4026-12T>G	EP300	Single nucleotide variant (intron variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2911920	NM_001429.4(EP300):c.6642C>G (p.Pro2214=)	EP300	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2910186	NM_001429.4(EP300):c.1666A>G (p.Met556Val)	EP300 (M556V)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2909236	NM_001429.4(EP300):c.1113A>G (p.Thr371=)	EP300	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GBenign
Select item 2908644	NM_001429.4(EP300):c.1761C>T (p.Leu587=)	EP300	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 2908051	NM_001429.4(EP300):c.730-20C>T	EP300	Single nucleotide variant (intron variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2907851	NM_001429.4(EP300):c.524C>T (p.Pro175Leu)	EP300 (P175L)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GBenign
Select item 2906442	NM_001429.4(EP300):c.4971G>A (p.Glu1657=)	EP300	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2904872	NM_001429.4(EP300):c.1760+11T>C	EP300	Single nucleotide variant (intron variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2904078	NM_001429.4(EP300):c.729+19T>C	EP300	Single nucleotide variant (intron variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2903073	NM_001429.4(EP300):c.3143-6_3143-4dup	EP300	Duplication (intron variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GBenign

<< First< Prev

Page of 10