EP300-AS1[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 145111	GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	LOC130067596, LOC130067597 +687 more	Copy number gain	See cases	GPathogenic
Select item 145112	GRCh38/hg38 22q13.2(chr22:40769910-41360090)x3	CHADL, DNAJB7 +32 more	Copy number gain	See cases	GUncertain significance
Select item 57233	GRCh38/hg38 22q13.2(chr22:40860894-41306006)x3	CHADL, DNAJB7 +28 more	Copy number gain	See cases	GUncertain significance
Select item 471411	NC_000022.10:g.(?_41264983)_(41729217_?)dup	RANGAP1, RBX1 +27 more	Duplication	Nephronophthisis-like nephropathy 1	GUncertain significance
Select item 1809810	NM_001429.4(EP300):c.5894dup (p.Met1965fs)	EP300, EP300-AS1 (M1939fs +1 more)	Duplication (frameshift variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +1 more	GLikely pathogenic

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