ClinVar for Gene (Select 92359) - ClinVar - NCBI

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Links from Gene

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3077289	NM_139161.5(CRB3):c.*314C>G	CRB3 (D112E)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3077288	NM_139161.5(CRB3):c.280C>T (p.Arg94Trp)	CRB3 (R94W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077287	NM_139161.5(CRB3):c.163G>A (p.Glu55Lys)	CRB3 (E55K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	UBXN6, UHRF1 +202 more	Copy number gain	not provided	GPathogenic
Select item 2588239	NM_139161.5(CRB3):c.266C>T (p.Thr89Met)	CRB3 (T89M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525121	NM_139161.5(CRB3):c.182T>A (p.Ile61Asn)	CRB3 (I61N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485811	NM_139161.5(CRB3):c.*304C>T	CRB3 (A109V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2426564	NC_000019.9:g.(?_6361586)_(8212364_?)del	ARHGEF18, C3 +51 more	Deletion	Mucolipidosis type IV	GPathogenic
Select item 1526654	GRCh37/hg19 19p13.3(chr19:6394117-6469834)	SLC25A41, CRB3 +3 more	Copy number loss	not specified	GUncertain significance
Select item 980754	GRCh37/hg19 19p13.3(chr19:6096399-6699729)x3	ACER1, ACSBG2 +16 more	Copy number gain	not provided	GUncertain significance
Select item 816063	GRCh37/hg19 19p13.3(chr19:6246138-6823741)x3	TNFSF14, SH2D3A +18 more	Copy number gain	not provided	GUncertain significance
Select item 816062	GRCh37/hg19 19p13.3(chr19:5949772-6699729)x3	MLLT1, ACER1 +17 more	Copy number gain	not provided	GUncertain significance
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	See cases	GPathogenic
Select item 150491	GRCh38/hg38 19p13.3-13.2(chr19:5905175-6916287)x3	ACER1, ACSBG2 +113 more	Copy number gain	See cases	GUncertain significance
Select item 59085	GRCh38/hg38 19p13.3(chr19:4934885-6501642)x3	LOC130063249, LOC130063250 +124 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063246, LOC130063247 +810 more	Copy number gain	See cases	GPathogenic