ADGRE3[gene] - ClinVar

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Items: 56

	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 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)	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)	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 2291154	NM_032571.5(ADGRE3):c.1836G>T (p.Trp612Cys)	ADGRE3 (W612C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289170	NM_032571.5(ADGRE3):c.1831A>G (p.Lys611Glu)	ADGRE3 (K611E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084882	NM_032571.5(ADGRE3):c.1809G>T (p.Gln603His)	ADGRE3 (Q603H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456138	NM_032571.5(ADGRE3):c.1772G>C (p.Gly591Ala)	ADGRE3 (G465A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349417	NM_032571.5(ADGRE3):c.1764C>A (p.Ser588Arg)	ADGRE3 (S462R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084869	NM_032571.5(ADGRE3):c.1703G>A (p.Gly568Asp)	ADGRE3 (G442D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256440	NM_032571.5(ADGRE3):c.1618G>A (p.Glu540Lys)	ADGRE3 (E414K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084856	NM_032571.5(ADGRE3):c.1544T>C (p.Ile515Thr)	ADGRE3 (I389T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217533	NM_032571.5(ADGRE3):c.1464C>G (p.His488Gln)	ADGRE3 (H436Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493757	NM_032571.5(ADGRE3):c.1458G>C (p.Trp486Cys)	ADGRE3 (W360C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292629	NM_032571.5(ADGRE3):c.1304C>G (p.Thr435Ser)	ADGRE3 (T383S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294772	NM_032571.5(ADGRE3):c.1244C>A (p.Pro415His)	ADGRE3 (P289H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294771	NM_032571.5(ADGRE3):c.1241A>G (p.Glu414Gly)	ADGRE3 (E288G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287046	NM_032571.5(ADGRE3):c.1192T>C (p.Cys398Arg)	ADGRE3 (C272R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084833	NM_032571.5(ADGRE3):c.1187C>T (p.Ser396Leu)	ADGRE3 (S344L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301324	NM_032571.5(ADGRE3):c.1139T>C (p.Leu380Pro)	ADGRE3 (L254P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469118	NM_032571.5(ADGRE3):c.1096G>A (p.Val366Ile)	ADGRE3 (V314I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220599	NM_032571.5(ADGRE3):c.1057G>T (p.Asp353Tyr)	ADGRE3 (D227Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220598	NM_032571.5(ADGRE3):c.1056G>C (p.Glu352Asp)	ADGRE3 (E300D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236220	NM_032571.5(ADGRE3):c.1033A>T (p.Met345Leu)	ADGRE3 (M345L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084936	NM_032571.5(ADGRE3):c.917A>C (p.Tyr306Ser)	ADGRE3 (Y254S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209198	NM_032571.5(ADGRE3):c.877G>A (p.Val293Met)	ADGRE3 (V167M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244186	NM_032571.5(ADGRE3):c.842C>G (p.Ser281Cys)	ADGRE3 (S229C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084923	NM_032571.5(ADGRE3):c.824G>C (p.Gly275Ala)	ADGRE3 (G149A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355431	NM_032571.5(ADGRE3):c.787G>A (p.Val263Met)	ADGRE3 (V263M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611402	NM_032571.5(ADGRE3):c.710T>C (p.Ile237Thr)	ADGRE3 (I111T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242125	NM_032571.5(ADGRE3):c.685G>A (p.Gly229Arg)	ADGRE3 (G229R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084912	NM_032571.5(ADGRE3):c.671G>A (p.Ser224Asn)	ADGRE3 (S172N +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2383017	NM_032571.5(ADGRE3):c.632A>G (p.Asn211Ser)	ADGRE3 (N159S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2319944	NM_032571.5(ADGRE3):c.607T>C (p.Cys203Arg)	ADGRE3 (C203R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613941	NM_032571.5(ADGRE3):c.593C>T (p.Ala198Val)	ADGRE3 (A198V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3084901	NM_032571.5(ADGRE3):c.413A>G (p.Lys138Arg)	ADGRE3 (K86R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249648	NM_032571.5(ADGRE3):c.402G>T (p.Lys134Asn)	ADGRE3 (K134N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084897	NM_032571.5(ADGRE3):c.261T>A (p.Asn87Lys)	ADGRE3 (N87K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617460	NM_032571.5(ADGRE3):c.207T>G (p.Asn69Lys)	ADGRE3 (N69K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460488	NM_032571.5(ADGRE3):c.178T>C (p.Phe60Leu)	ADGRE3 (F60L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084865	NM_032571.5(ADGRE3):c.166A>G (p.Lys56Glu)	ADGRE3 (K56E)	Single nucleotide variant (missense variant)	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)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic

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Items: 56