ClinVar for MedGen (Select 510413) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2978511	NM_013447.4(ADGRE2):c.1243G>A (p.Ala415Thr)	ADGRE2 (A415T +2 more)	Single nucleotide variant (missense variant)	Vibratory urticaria +2 more	GConflicting classifications of pathogenicity
Select item 2168798	NM_013447.4(ADGRE2):c.920C>T (p.Ala307Val)	ADGRE2 (A214V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2126077	NM_013447.4(ADGRE2):c.1842G>C (p.Leu614Phe)	ADGRE2 (L556F +3 more)	Single nucleotide variant (missense variant)	Vibratory urticaria +1 more	GBenign
Select item 2074623	NM_013447.4(ADGRE2):c.56C>T (p.Pro19Leu)	ADGRE2 (P19L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2068876	NM_013447.4(ADGRE2):c.1919A>G (p.Asn640Ser)	ADGRE2 (N582S +3 more)	Single nucleotide variant (missense variant)	ADGRE2-related disorder +2 more	GBenign/Likely benign
Select item 1301602	NM_013447.4(ADGRE2):c.461A>T (p.Lys154Ile)	ADGRE2 (K154I)	Single nucleotide variant (missense variant)	Vibratory urticaria	GUncertain significance
Select item 1301601	NM_013447.4(ADGRE2):c.457C>T (p.Leu153Phe)	ADGRE2 (L153F)	Single nucleotide variant (missense variant)	Vibratory urticaria	GUncertain significance
Select item 708623	NM_013447.4(ADGRE2):c.1693_1709del (p.Gln565fs)	ADGRE2 (Q507fs +1 more)	Deletion (frameshift variant)	Vibratory urticaria +1 more	GLikely benign
Select item 222005	NM_013447.4(ADGRE2):c.1475G>A (p.Cys492Tyr)	ADGRE2 (C492Y)	Single nucleotide variant (missense variant +1 more)	Vibratory urticaria	GPathogenic