Related gene-specific medical variations for Gene (Select 57634) - ClinVar

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Links from Gene

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3353902	NM_015409.5(EP400):c.3241G>T (p.Glu1081Ter)	EP400, LOC126861695 (E1081*)	Single nucleotide variant (nonsense)	EP400-related disorder	GUncertain significance
Select item 3275616	NM_015409.5(EP400):c.5287C>T (p.Pro1763Ser)	EP400, LOC124849291 (P1763S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089317	NM_015409.5(EP400):c.5369A>G (p.Asp1790Gly)	EP400, LOC124849291 (D1790G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089308	NM_015409.5(EP400):c.3229A>G (p.Ile1077Val)	EP400, LOC126861695 (I1077V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089306	NM_015409.5(EP400):c.3089C>G (p.Ala1030Gly)	EP400, LOC126861695 (A1030G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089305	NM_015409.5(EP400):c.3040G>A (p.Gly1014Arg)	EP400, LOC126861695 (G1014R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089304	NM_015409.5(EP400):c.3001A>C (p.Ile1001Leu)	EP400, LOC126861695 (I1001L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042464	NM_015409.5(EP400):c.5110-9T>G	EP400, LOC124849291	Single nucleotide variant (intron variant)	EP400-related disorder	GLikely benign
Select item 3039269	NM_015409.5(EP400):c.5324G>T (p.Ser1775Ile)	EP400, LOC124849291 (S1775I)	Single nucleotide variant (missense variant)	EP400-related disorder	GBenign
Select item 2643622	NM_015409.5(EP400):c.5178T>C (p.Ser1726=)	EP400, LOC124849291	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2591652	NM_015409.5(EP400):c.5339C>T (p.Thr1780Met)	EP400, LOC124849291 (T1780M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546235	NM_015409.5(EP400):c.5238G>T (p.Arg1746Ser)	EP400, LOC124849291 (R1746S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533535	NM_015409.5(EP400):c.5188G>A (p.Val1730Ile)	EP400, LOC124849291 (V1730I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513320	NM_015409.5(EP400):c.2995C>G (p.Leu999Val)	EP400, LOC126861695 (L999V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510467	NM_015409.5(EP400):c.3007G>C (p.Asp1003His)	EP400, LOC126861695 (D1003H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324926	NM_015409.5(EP400):c.5368G>A (p.Asp1790Asn)	EP400, LOC124849291 (D1790N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307334	NM_015409.5(EP400):c.5267G>A (p.Arg1756His)	EP400, LOC124849291 (R1756H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2259420	NM_015409.5(EP400):c.3271A>G (p.Ile1091Val)	EP400, LOC126861695 (I1091V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256867	NM_015409.5(EP400):c.2938G>A (p.Ala980Thr)	EP400, LOC126861695 (A980T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250289	NM_015409.5(EP400):c.3052G>A (p.Ala1018Thr)	EP400, LOC126861695 (A1018T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2232364	NM_015409.5(EP400):c.3289C>G (p.Leu1097Val)	EP400, LOC126861695 (L1097V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214435	NM_015409.5(EP400):c.5270G>A (p.Arg1757His)	EP400, LOC124849291 (R1757H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1676543	NM_015409.5(EP400):c.6026C>T (p.Ala2009Val)	EP400 (A2009V)	Single nucleotide variant	not provided	GUncertain significance
Select item 779617	NM_015409.5(EP400):c.5208A>G (p.Leu1736=)	EP400, LOC124849291	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778690	NM_015409.5(EP400):c.3039C>T (p.Ile1013=)	EP400, LOC126861695	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 750004	NM_015409.5(EP400):c.3126+8G>A	EP400, LOC126861695	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 747137	NM_015409.5(EP400):c.5292G>A (p.Ala1764=)	EP400, LOC124849291	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 746842	NM_015409.5(EP400):c.5140C>T (p.Leu1714=)	EP400, LOC124849291	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 686902	GRCh37/hg19 12q24.33(chr12:132518782-132546222)x1	EP400	Copy number loss	not provided	GUncertain significance

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Links from Gene

Items: 29