RETN[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 60234	GRCh38/hg38 19p13.2(chr19:7194917-7827432)x3	LOC130063389, LOC130063390 +75 more	Copy number gain	See cases	GUncertain significance
Select item 3053127	NM_020415.4(RETN):c.-9G>T	RETN	Single nucleotide variant (5 prime UTR variant +1 more)	RETN-related disorder	GLikely benign
Select item 3338183	NM_020415.4(RETN):c.12_13del (p.Cys5fs)	RETN (C5fs)	Microsatellite (frameshift variant)	Autism	GUncertain significance
Select item 3153127	NM_020415.4(RETN):c.90G>C (p.Glu30Asp)	RETN (E30D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274361	NM_020415.4(RETN):c.127G>A (p.Ala43Thr)	RETN (A43T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 4884	NM_020415.4(RETN):c.*62G>A	RETN	Single nucleotide variant (3 prime UTR variant)	Diabetes mellitus type 2, susceptibility to +1 more	Grisk factor
Select item 3242628	NC_000019.9:g.(?_5691310)_(8008536_?)dup	ACER1, ACSBG2 +65 more	Duplication	not provided	GUncertain significance
Select item 2426564	NC_000019.9:g.(?_6361586)_(8212364_?)del	CRB3, CTXN1 +51 more	Deletion	Mucolipidosis type IV	GPathogenic
Select item 2426563	NC_000019.9:g.(?_7586521)_(8670595_?)dup	ADAMTS10, ANGPTL4 +35 more	Duplication	Mucolipidosis type IV	GUncertain significance
Select item 831037	NC_000019.9:g.(?_7587617)_(8373194_?)dup	PCP2, PET100 +24 more	Duplication	Familial hemophagocytic lymphohistiocytosis 5	GUncertain significance
Select item 816064	GRCh37/hg19 19p13.2(chr19:7657490-8569762)x3	ANGPTL4, CAMSAP3 +30 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)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic