CTXN1[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 2549890	NM_206833.4(CTXN1):c.180G>A (p.Met60Ile)	CTXN1 (M60I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078900	NM_206833.4(CTXN1):c.167C>T (p.Pro56Leu)	CTXN1 (P56L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325697	NM_206833.4(CTXN1):c.125T>C (p.Leu42Pro)	CTXN1 (L42P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496408	NM_206833.4(CTXN1):c.77C>T (p.Ala26Val)	CTXN1, LOC130063400 (A26V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286432	NM_206833.4(CTXN1):c.67G>A (p.Gly23Ser)	CTXN1, LOC130063400 (G23S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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
Select item 394421	GRCh37/hg19 19p13.2(chr19:7989408-7990287)x3	CTXN1	Copy number gain	See cases	Gconflicting data from submitters