ClinVar for MedGen (Select 1676668) - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664799	NM_001429.4(EP300):c.3098C>T (p.Ser1033Leu)	EP300, LOC126863158 (S1007L +1 more)	Single nucleotide variant (missense variant)	Menke-Hennekam syndrome 2 +1 more	GUncertain significance
Select item 2580919	NM_001429.4(EP300):c.4898T>G (p.Leu1633Arg)	EP300 (L1607R +1 more)	Single nucleotide variant (missense variant)	Menke-Hennekam syndrome 2	GLikely pathogenic
Select item 2505570	NM_001429.4(EP300):c.5745G>C (p.Gln1915His)	EP300 (Q1889H +1 more)	Single nucleotide variant (missense variant)	Menke-Hennekam syndrome 2	GLikely benign
Select item 2503425	NM_001429.4(EP300):c.3139_3140del (p.Lys1047fs)	EP300, LOC126863158 (K1021fs +1 more)	Deletion (frameshift variant)	Menke-Hennekam syndrome 2	GLikely pathogenic
Select item 2431613	NM_001429.4(EP300):c.4021G>A (p.Ala1341Thr)	EP300 (A1315T +1 more)	Single nucleotide variant (missense variant)	Menke-Hennekam syndrome 2	GUncertain significance
Select item 2080651	NM_001429.4(EP300):c.6775G>A (p.Ala2259Thr)	EP300 (A2259T +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 1709924	NM_001429.4(EP300):c.5192G>A (p.Arg1731His)	EP300 (R1705H +1 more)	Single nucleotide variant (missense variant)	Menke-Hennekam syndrome 2	GUncertain significance
Select item 1699491	NM_001429.4(EP300):c.1985C>A (p.Ala662Glu)	EP300 (A662E)	Single nucleotide variant (missense variant)	Menke-Hennekam syndrome 2	GUncertain significance
Select item 1350847	NM_001429.4(EP300):c.454G>A (p.Gly152Ser)	EP300 (G152S)	Single nucleotide variant (missense variant)	EP300-related condition +5 more	GConflicting classifications of pathogenicity
Select item 1343262	NM_001429.4(EP300):c.4372C>T (p.Pro1458Ser)	EP300 (P1432S +1 more)	Single nucleotide variant (missense variant)	Menke-Hennekam syndrome 2	GUncertain significance
Select item 1341708	NM_001429.4(EP300):c.2960C>T (p.Pro987Leu)	LOC126863158, EP300 (P961L +1 more)	Single nucleotide variant (missense variant)	Menke-Hennekam syndrome 2 +1 more	GUncertain significance
Select item 1255385	NM_001429.4(EP300):c.4453-23T>C	EP300	Single nucleotide variant (intron variant)	Menke-Hennekam syndrome 2 +2 more	GBenign
Select item 1236178	NM_001429.4(EP300):c.1303G>A (p.Val435Ile)	EP300 (V435I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1221123	NM_001429.4(EP300):c.2380-18T>C	EP300	Single nucleotide variant (intron variant)	not provided +4 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 1030398	NM_001429.4(EP300):c.6786G>C (p.Gln2262His)	EP300 (Q2236H +1 more)	Single nucleotide variant (missense variant)	Menke-Hennekam syndrome 2 +1 more	GUncertain significance
Select item 977155	NM_001429.4(EP300):c.1781C>T (p.Thr594Met)	EP300 (T594M)	Single nucleotide variant (missense variant)	EP300-related condition +5 more	GConflicting classifications of pathogenicity
Select item 973766	NM_001429.4(EP300):c.7111T>A (p.Ser2371Thr)	EP300 (S2345T +1 more)	Single nucleotide variant (missense variant)	Menke-Hennekam syndrome 2	GLikely pathogenic
Select item 931680	NM_001429.4(EP300):c.7G>A (p.Glu3Lys)	EP300 (E3K)	Single nucleotide variant (missense variant)	Menke-Hennekam syndrome 2	GUncertain significance
Select item 931160	NM_001429.4(EP300):c.1760+20C>T	EP300	Single nucleotide variant (intron variant)	Menke-Hennekam syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 930851	NM_001429.4(EP300):c.5061+4G>A	EP300	Single nucleotide variant (intron variant)	Menke-Hennekam syndrome 2	GUncertain significance
Select item 619096	NM_001429.4(EP300):c.5489GGA[1] (p.Arg1831del)	EP300 (R1831del +1 more)	Microsatellite (inframe_deletion)	Menke-Hennekam syndrome 2	GPathogenic
Select item 619095	NM_001429.4(EP300):c.5471A>C (p.Gln1824Pro)	EP300 (Q1824P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 595659	NM_001429.4(EP300):c.5683C>T (p.Pro1895Ser)	EP300 (P1895S +1 more)	Single nucleotide variant (missense variant)	Menke-Hennekam syndrome 2 +4 more	GConflicting classifications of pathogenicity
Select item 374087	NM_001429.4(EP300):c.2053+4A>T	EP300	Single nucleotide variant (intron variant)	Menke-Hennekam syndrome 2 +7 more	GUncertain significance
Select item 341828	NM_001429.4(EP300):c.6951G>A (p.Arg2317=)	EP300	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 137620	NM_001429.4(EP300):c.104_107del (p.Ser35fs)	EP300 (S35fs)	Microsatellite (frameshift variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +5 more	GPathogenic/Likely pathogenic
Select item 134065	NM_001429.4(EP300):c.1519A>G (p.Ser507Gly)	EP300 (S507G)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +5 more	GBenign/Likely benign
Select item 134049	NM_001429.4(EP300):c.6481A>G (p.Met2161Val)	EP300 (M2161V +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +6 more	GBenign/Likely benign
Select item 134043	NM_001429.4(EP300):c.631G>A (p.Gly211Ser)	EP300 (G211S)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +6 more	GBenign
Select item 134039	NM_001429.4(EP300):c.2773C>A (p.Pro925Thr)	EP300 (P925T +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +5 more	GBenign/Likely benign
Select item 93741	NM_001429.4(EP300):c.4452+20C>T	EP300	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 93738	NM_001429.4(EP300):c.3183T>A (p.Thr1061=)	EP300	Single nucleotide variant (synonymous variant)	Menke-Hennekam syndrome 2 +3 more	GBenign
Select item 93736	NM_001429.4(EP300):c.2989A>G (p.Ile997Val)	EP300, LOC126863158 (I997V +1 more)	Single nucleotide variant (missense variant)	Menke-Hennekam syndrome 2 +3 more	GBenign
Select item 93735	NM_001429.4(EP300):c.2499G>A (p.Ser833=)	EP300	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 93732	NM_001429.4(EP300):c.2053+8G>T	EP300	Single nucleotide variant (intron variant)	not provided +3 more	GBenign

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Items: 36