"Ambry Genetics"[submitter] AND "LOC126861695"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2513320	NM_015409.5(EP400):c.2995C>G (p.Leu999Val)	EP400, LOC126861695 (L999V)	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 2510467	NM_015409.5(EP400):c.3007G>C (p.Asp1003His)	EP400, LOC126861695 (D1003H)	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 2250289	NM_015409.5(EP400):c.3052G>A (p.Ala1018Thr)	EP400, LOC126861695 (A1018T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3089308	NM_015409.5(EP400):c.3229A>G (p.Ile1077Val)	EP400, LOC126861695 (I1077V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2232364	NM_015409.5(EP400):c.3289C>G (p.Leu1097Val)	EP400, LOC126861695 (L1097V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance