"Mendelics"[submitter] AND "ADGRE2"[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1686479	NM_013447.4(ADGRE2):c.2376G>A (p.Trp792Ter)	ADGRE2 (W734* +1 more)	Single nucleotide variant (nonsense)	not specified	GBenign
Select item 1686518	NM_013447.4(ADGRE2):c.2266G>T (p.Ala756Ser)	ADGRE2 (A698S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1686568	NM_013447.4(ADGRE2):c.2235G>A (p.Trp745Ter)	ADGRE2 (W687* +1 more)	Single nucleotide variant (nonsense)	not specified	GBenign
Select item 1684681	NM_013447.4(ADGRE2):c.2184-17_2184-3del	ADGRE2	Deletion (intron variant)	not specified	GBenign
Select item 1684734	NM_013447.4(ADGRE2):c.2174G>A (p.Arg725Gln)	ADGRE2 (R667Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1684795	NM_013447.4(ADGRE2):c.2138G>T (p.Arg713Ile)	ADGRE2 (R655I +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1684863	NM_013447.4(ADGRE2):c.2095_2096insGCCACCGCGCCCGGCCA (p.Asn699fs)	ADGRE2 (N641fs +1 more)	Insertion (frameshift variant)	not specified	GBenign
Select item 1684917	NM_013447.4(ADGRE2):c.2094_2095insCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC (p.Asn699delinsLeuGlyLeuGlnAlaTer)	ADGRE2	Insertion (nonsense)	not specified	GBenign
Select item 1684977	NM_013447.4(ADGRE2):c.2092_2093insCG (p.Val698fs)	ADGRE2 (V640fs +1 more)	Insertion (frameshift variant)	not specified	GBenign
Select item 1685024	NM_013447.4(ADGRE2):c.1876C>T (p.Leu626Phe)	ADGRE2 (L568F +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1685074	NM_013447.4(ADGRE2):c.1849A>T (p.Met617Leu)	ADGRE2 (M559L +1 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 1685140	NM_013447.4(ADGRE2):c.1820del (p.His607fs)	ADGRE2 (H549fs +1 more)	Deletion (frameshift variant)	not specified	GBenign
Select item 1685200	NM_013447.4(ADGRE2):c.1805_1806insGATGCTGTGCTCCATCAT (p.Ile601_Ile602insMetMetLeuCysSerIle)	ADGRE2	Microsatellite (inframe_insertion)	not specified	GBenign
Select item 1685261	NM_013447.4(ADGRE2):c.1805T>C (p.Ile602Thr)	ADGRE2 (I544T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1685339	NM_013447.4(ADGRE2):c.1780G>T (p.Gly594Ter)	ADGRE2 (G536* +1 more)	Single nucleotide variant (nonsense)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1685414	NM_013447.4(ADGRE2):c.1629del (p.Gly543_Leu544insTer)	ADGRE2	Deletion (frameshift variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1685488	NM_013447.4(ADGRE2):c.1541G>T (p.Cys514Phe)	ADGRE2 (C514F)	Single nucleotide variant (missense variant +1 more)	not specified	GBenign
Select item 1685541	NM_013447.4(ADGRE2):c.1531A>G (p.Ile511Val)	ADGRE2 (I511V)	Single nucleotide variant (missense variant +1 more)	not specified	GBenign
Select item 1685595	NM_013447.4(ADGRE2):c.1492del (p.Thr498fs)	ADGRE2 (T498fs)	Deletion (frameshift variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 222005	NM_013447.4(ADGRE2):c.1475G>A (p.Cys492Tyr)	ADGRE2 (C492Y)	Single nucleotide variant (missense variant +1 more)	Vibratory urticaria	GPathogenic
Select item 1685645	NM_013447.4(ADGRE2):c.1454G>A (p.Trp485Ter)	ADGRE2 (W485*)	Single nucleotide variant (nonsense +1 more)	not specified	GBenign
Select item 1685698	NM_013447.4(ADGRE2):c.1230G>A (p.Met410Ile)	ADGRE2 (M410I)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1685766	NM_013447.4(ADGRE2):c.1201G>A (p.Val401Met)	ADGRE2 (V401M)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 1685820	NM_013447.4(ADGRE2):c.745G>A (p.Gly249Arg)	ADGRE2 (G249R)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 1685850	NM_013447.4(ADGRE2):c.731G>C (p.Trp244Ser)	ADGRE2 (W244S)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 1685893	NM_013447.4(ADGRE2):c.715C>T (p.Arg239Cys)	ADGRE2 (R239C)	Single nucleotide variant (missense variant)	not specified	GConflicting classifications of pathogenicity
Select item 1685941	NM_013447.4(ADGRE2):c.697G>A (p.Val233Met)	ADGRE2 (V233M)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 1685962	NM_013447.4(ADGRE2):c.635-2A>C	ADGRE2	Single nucleotide variant (splice acceptor variant)	not specified	GBenign
Select item 1685991	NM_013447.4(ADGRE2):c.584G>A (p.Trp195Ter)	ADGRE2 (W195*)	Single nucleotide variant (nonsense)	not specified	GBenign
Select item 1686051	NM_013447.4(ADGRE2):c.524A>C (p.His175Pro)	ADGRE2 (H175P)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 1686110	NM_013447.4(ADGRE2):c.498A>C (p.Glu166Asp)	ADGRE2 (E166D)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 1686167	NM_013447.4(ADGRE2):c.440G>T (p.Cys147Phe)	ADGRE2 (C147F)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 1686227	NM_013447.4(ADGRE2):c.437A>C (p.Gln146Pro)	ADGRE2 (Q146P)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 1686284	NM_013447.4(ADGRE2):c.364G>A (p.Glu122Lys)	ADGRE2 (E122K)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 1686315	NM_013447.4(ADGRE2):c.355G>C (p.Asp119His)	ADGRE2 (D119H)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1686319	NM_013447.4(ADGRE2):c.313G>A (p.Gly105Arg)	ADGRE2 (G105R)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 1686326	NM_013447.4(ADGRE2):c.248C>T (p.Ser83Leu)	ADGRE2 (S83L)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1686333	NM_013447.4(ADGRE2):c.208G>A (p.Glu70Lys)	ADGRE2 (E70K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1686342	NM_013447.4(ADGRE2):c.199+49T>C	ADGRE2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1686348	NM_013447.4(ADGRE2):c.138C>A (p.Arg46=)	ADGRE2	Single nucleotide variant (synonymous variant)	ADGRE2-related condition +2 more	GBenign/Likely benign
Select item 1686352	NM_013447.4(ADGRE2):c.137G>A (p.Arg46His)	ADGRE2 (R46H)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1686356	NM_013447.4(ADGRE2):c.73G>A (p.Asp25Asn)	ADGRE2 (D25N)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 1686364	NM_013447.4(ADGRE2):c.52_53del (p.Leu18fs)	ADGRE2 (L18fs)	Microsatellite (frameshift variant)	not specified	GBenign
Select item 1686374	NM_013447.4(ADGRE2):c.5G>A (p.Gly2Glu)	ADGRE2 (G2E)	Single nucleotide variant (missense variant)	not specified	GBenign

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Items: 44