RYBP[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	HTD2, HTR1F +482 more	Copy number loss	See cases	GPathogenic
Select item 57772	GRCh38/hg38 3p14.1-12.3(chr3:64761248-78410098)x1	ADAMTS9-AS2, ARL6IP5 +234 more	Copy number loss	See cases	GPathogenic
Select item 144339	GRCh38/hg38 3p14.1-13(chr3:67391006-73414001)x1	ARL6IP5, EBLN2 +142 more	Copy number loss	See cases	GPathogenic
Select item 151504	GRCh38/hg38 3p14.1-12.3(chr3:68328980-76764319)x3	ARL6IP5, CNTN3 +175 more	Copy number gain	See cases	GLikely pathogenic
Select item 57773	GRCh38/hg38 3p13-12.3(chr3:70296167-74865078)x1	LOC129937044, LOC129937045 +110 more	Copy number loss	See cases	GPathogenic
Select item 154582	GRCh38/hg38 3p13-12.3(chr3:71317346-74324671)x1	LOC115995512, LOC121009679 +94 more	Copy number loss	See cases	GPathogenic
Select item 3062672	GRCh37/hg19 3p13(chr3:70583776-72793789)x1	EIF4E3, FOXP1 +4 more	Copy number loss	not specified	GPathogenic
Select item 1676304	GRCh37/hg19 3p13-q12.1(chr3:72488757-99614758)x3	ARL13B, ARL6 +47 more	Copy number gain	not provided	GLikely pathogenic
Select item 1064533	Single allele	EIF4E3, EOGT +12 more	Deletion	See cases	GPathogenic
Select item 980499	GRCh37/hg19 3p13-12.3(chr3:70938608-74660846)x3	CNTN3, EBLN2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 562781	GRCh37/hg19 3p14.1-12.3(chr3:66133719-75076440)x1	ARL6IP5, CNTN3 +22 more	Copy number loss	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 441945	GRCh37/hg19 3p13-12.3(chr3:70433832-77012164)x1	RYBP, SHQ1 +13 more	Copy number loss	See cases	GPathogenic
Select item 394175	GRCh37/hg19 3p13-12.3(chr3:70127345-74508912)x3	CNTN3, EBLN2 +10 more	Copy number gain	See cases	GUncertain significance