CLEC17A[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59112	GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3	LOC129391074, LOC130063625 +351 more	Copy number gain	See cases	GPathogenic
Select item 146686	GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1	ADGRE2, ADGRE3 +318 more	Copy number loss	See cases	GPathogenic
Select item 147284	GRCh38/hg38 19p13.13-13.12(chr19:13533925-15371089)x1	ADGRE2, ADGRE3 +180 more	Copy number loss	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 144765	GRCh38/hg38 19p13.12-13.11(chr19:14154962-16914313)x1	ADGRE2, ADGRE3 +237 more	Copy number loss	See cases	GPathogenic
Select item 147745	GRCh38/hg38 19p13.12(chr19:14406909-15410770)x1	LOC130063788, LOC130063789 +77 more	Copy number loss	See cases	GUncertain significance
Select item 144311	GRCh38/hg38 19p13.12(chr19:14477761-15133653)x3	ADGRE2, ADGRE3 +41 more	Copy number gain	See cases	GUncertain significance
Select item 2349517	NM_001204118.2(CLEC17A):c.7A>G (p.Asn3Asp)	CLEC17A (N3D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145606	NM_001204118.2(CLEC17A):c.38C>T (p.Pro13Leu)	CLEC17A (P13L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2487594	NM_001204118.2(CLEC17A):c.129G>T (p.Met43Ile)	CLEC17A (M43I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337705	NM_001204118.2(CLEC17A):c.129G>A (p.Met43Ile)	CLEC17A (M43I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145603	NM_001204118.2(CLEC17A):c.184C>A (p.Leu62Ile)	CLEC17A (L62I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212215	NM_001204118.2(CLEC17A):c.184C>T (p.Leu62Phe)	CLEC17A (L62F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145604	NM_001204118.2(CLEC17A):c.220G>A (p.Glu74Lys)	CLEC17A (E74K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383315	NM_001204118.2(CLEC17A):c.222G>T (p.Glu74Asp)	CLEC17A (E74D)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2456201	NM_001204118.2(CLEC17A):c.233A>G (p.Tyr78Cys)	CLEC17A (Y78C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293099	NM_001204118.2(CLEC17A):c.235G>A (p.Glu79Lys)	CLEC17A (E79K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145605	NM_001204118.2(CLEC17A):c.250C>G (p.Pro84Ala)	CLEC17A (P84A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459220	NM_001204118.2(CLEC17A):c.341G>T (p.Cys114Phe)	CLEC17A (C114F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470025	NM_001204118.2(CLEC17A):c.346C>A (p.Pro116Thr)	CLEC17A (P116T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521481	NM_001204118.2(CLEC17A):c.411T>A (p.Asn137Lys)	CLEC17A (N137K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388162	NM_001204118.2(CLEC17A):c.439C>G (p.Leu147Val)	CLEC17A (L147V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608091	NM_001204118.2(CLEC17A):c.508A>T (p.Met170Leu)	CLEC17A (M170L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404307	NM_001204118.2(CLEC17A):c.598G>C (p.Glu200Gln)	CLEC17A (E200Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145608	NM_001204118.2(CLEC17A):c.748C>T (p.Arg250Cys)	CLEC17A (R250C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266439	NM_001204118.2(CLEC17A):c.749G>A (p.Arg250His)	CLEC17A (R250H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225549	NM_001204118.2(CLEC17A):c.749G>C (p.Arg250Pro)	CLEC17A (R250P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310209	NM_001204118.2(CLEC17A):c.770G>C (p.Gly257Ala)	CLEC17A (G257A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145609	NM_001204118.2(CLEC17A):c.773G>C (p.Trp258Ser)	CLEC17A (W258S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235114	NM_001204118.2(CLEC17A):c.786G>C (p.Glu262Asp)	CLEC17A (E262D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601014	NM_001204118.2(CLEC17A):c.835C>T (p.Arg279Trp)	ADGRE3, CLEC17A (R279W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208682	NM_001204118.2(CLEC17A):c.952A>G (p.Arg318Gly)	ADGRE3, CLEC17A (R318G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2622602	NM_001204118.2(CLEC17A):c.955G>A (p.Ala319Thr)	ADGRE3, CLEC17A (A319T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2231052	NM_001204118.2(CLEC17A):c.1103C>T (p.Thr368Met)	ADGRE3, CLEC17A (T368M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 1526656	GRCh37/hg19 19p13.12-13.11(chr19:14124666-16431349)	ADGRE2, ADGRE3 +55 more	Copy number loss	not specified	GPathogenic
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 816068	GRCh37/hg19 19p13.12(chr19:14368330-15712368)x1	ADGRE2, ADGRE3 +30 more	Copy number loss	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 443137	GRCh37/hg19 19p13.2-13.12(chr19:12574343-14726197)x1	ADGRE5, ADGRL1 +64 more	Copy number loss	See cases	GPathogenic
Select item 442731	GRCh37/hg19 19p13.2-13.12(chr19:13592592-14717528)x1	ADGRE5, ADGRL1 +30 more	Copy number loss	See cases	GLikely pathogenic
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic
Select item 395074	GRCh37/hg19 19p13.12(chr19:14674870-14693947)x3	CLEC17A, NDUFB7 +1 more	Copy number gain	See cases	GLikely benign

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Items: 45