ADGRE3[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59112	GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3	LOC130063796, LOC130063797 +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	LOC130063908, LOC130063909 +695 more	Copy number gain	See cases	GPathogenic
Select item 144765	GRCh38/hg38 19p13.12-13.11(chr19:14154962-16914313)x1	ADGRL1, ADGRL1-AS1 +237 more	Copy number loss	See cases	GPathogenic
Select item 147745	GRCh38/hg38 19p13.12(chr19:14406909-15410770)x1	ADGRE2, ADGRE3 +77 more	Copy number loss	See cases	GUncertain significance
Select item 144311	GRCh38/hg38 19p13.12(chr19:14477761-15133653)x3	LOC126862869, LOC126862870 +41 more	Copy number gain	See cases	GUncertain significance
Select item 2601014	NM_001204118.2(CLEC17A):c.835C>T (p.Arg279Trp)	ADGRE3, CLEC17A (R279W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2208682	NM_001204118.2(CLEC17A):c.952A>G (p.Arg318Gly)	CLEC17A, ADGRE3 (R318G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2622602	NM_001204118.2(CLEC17A):c.955G>A (p.Ala319Thr)	ADGRE3, CLEC17A (A319T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2231052	NM_001204118.2(CLEC17A):c.1103C>T (p.Thr368Met)	CLEC17A, ADGRE3 (T368M)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2291154	NM_032571.5(ADGRE3):c.1836G>T (p.Trp612Cys)	ADGRE3 (W612C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289170	NM_032571.5(ADGRE3):c.1831A>G (p.Lys611Glu)	ADGRE3 (K611E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456138	NM_032571.5(ADGRE3):c.1772G>C (p.Gly591Ala)	ADGRE3 (G465A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349417	NM_032571.5(ADGRE3):c.1764C>A (p.Ser588Arg)	ADGRE3 (S462R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256440	NM_032571.5(ADGRE3):c.1618G>A (p.Glu540Lys)	ADGRE3 (E414K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217533	NM_032571.5(ADGRE3):c.1464C>G (p.His488Gln)	ADGRE3 (H436Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493757	NM_032571.5(ADGRE3):c.1458G>C (p.Trp486Cys)	ADGRE3 (W360C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292629	NM_032571.5(ADGRE3):c.1304C>G (p.Thr435Ser)	ADGRE3 (T383S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294772	NM_032571.5(ADGRE3):c.1244C>A (p.Pro415His)	ADGRE3 (P289H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294771	NM_032571.5(ADGRE3):c.1241A>G (p.Glu414Gly)	ADGRE3 (E288G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287046	NM_032571.5(ADGRE3):c.1192T>C (p.Cys398Arg)	ADGRE3 (C272R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301324	NM_032571.5(ADGRE3):c.1139T>C (p.Leu380Pro)	ADGRE3 (L254P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469118	NM_032571.5(ADGRE3):c.1096G>A (p.Val366Ile)	ADGRE3 (V314I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220599	NM_032571.5(ADGRE3):c.1057G>T (p.Asp353Tyr)	ADGRE3 (D227Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220598	NM_032571.5(ADGRE3):c.1056G>C (p.Glu352Asp)	ADGRE3 (E300D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236220	NM_032571.5(ADGRE3):c.1033A>T (p.Met345Leu)	ADGRE3 (M345L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209198	NM_032571.5(ADGRE3):c.877G>A (p.Val293Met)	ADGRE3 (V167M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244186	NM_032571.5(ADGRE3):c.842C>G (p.Ser281Cys)	ADGRE3 (S229C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355431	NM_032571.5(ADGRE3):c.787G>A (p.Val263Met)	ADGRE3 (V263M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611402	NM_032571.5(ADGRE3):c.710T>C (p.Ile237Thr)	ADGRE3 (I111T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242125	NM_032571.5(ADGRE3):c.685G>A (p.Gly229Arg)	ADGRE3 (G229R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383017	NM_032571.5(ADGRE3):c.632A>G (p.Asn211Ser)	ADGRE3 (N159S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2319944	NM_032571.5(ADGRE3):c.607T>C (p.Cys203Arg)	ADGRE3 (C203R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613941	NM_032571.5(ADGRE3):c.593C>T (p.Ala198Val)	ADGRE3 (A198V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2249648	NM_032571.5(ADGRE3):c.402G>T (p.Lys134Asn)	ADGRE3 (K134N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2617460	NM_032571.5(ADGRE3):c.207T>G (p.Asn69Lys)	ADGRE3 (N69K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2460488	NM_032571.5(ADGRE3):c.178T>C (p.Phe60Leu)	ADGRE3 (F60L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	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 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	PRKCSH, PTGER1 +153 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 46