SNORD12B[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 150781	GRCh38/hg38 20q13.13(chr20:48756586-49532355)x3	ARFGEF2, CSE1L +44 more	Copy number gain	See cases	GUncertain significance
Select item 146041	GRCh38/hg38 20q13.13(chr20:49098782-49465707)x3	DDX27, KCNB1 +15 more	Copy number gain	See cases	GUncertain significance
Select item 1184395	NC_000020.11:g.49212886_49410642dup	DDX27, KCNB1 +12 more	Duplication	Developmental and epileptic encephalopathy, 26	GUncertain significance

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