"PreventionGenetics, part of Exact Sciences"[submitter] AND "ADGRE2"[g - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2043923	NM_013447.4(ADGRE2):c.2464-17AT[7]	ADGRE2	Microsatellite (intron variant)	ADGRE2-related disorder +1 more	GLikely benign
Select item 2077274	NM_013447.4(ADGRE2):c.2202G>A (p.Ala734=)	ADGRE2	Single nucleotide variant (synonymous variant)	ADGRE2-related disorder +1 more	GLikely benign
Select item 2126075	NM_013447.4(ADGRE2):c.2160A>C (p.Glu720Asp)	ADGRE2 (E662D +3 more)	Single nucleotide variant (missense variant)	ADGRE2-related disorder +1 more	GBenign
Select item 2043690	NM_013447.4(ADGRE2):c.2113G>C (p.Val705Leu)	ADGRE2 (V612L +3 more)	Single nucleotide variant (missense variant)	ADGRE2-related disorder +1 more	GBenign/Likely benign
Select item 2052343	NM_013447.4(ADGRE2):c.1940T>A (p.Met647Lys)	ADGRE2 (M554K +3 more)	Single nucleotide variant (missense variant)	ADGRE2-related disorder +1 more	GBenign/Likely benign
Select item 2068876	NM_013447.4(ADGRE2):c.1919A>G (p.Asn640Ser)	ADGRE2 (N582S +3 more)	Single nucleotide variant (missense variant)	ADGRE2-related disorder +1 more	GBenign/Likely benign
Select item 714763	NM_013447.4(ADGRE2):c.1624A>G (p.Met542Val)	ADGRE2 (M484V +1 more)	Single nucleotide variant (missense variant)	ADGRE2-related disorder +1 more	GBenign
Select item 723713	NM_013447.4(ADGRE2):c.1580A>C (p.Tyr527Ser)	ADGRE2 (Y527S)	Single nucleotide variant (missense variant +1 more)	ADGRE2-related disorder +1 more	GBenign/Likely benign
Select item 2153350	NM_013447.4(ADGRE2):c.1416+3G>C	ADGRE2	Single nucleotide variant (intron variant)	ADGRE2-related disorder +1 more	GLikely benign
Select item 2126078	NM_013447.4(ADGRE2):c.1193-9G>A	ADGRE2	Single nucleotide variant (intron variant)	ADGRE2-related disorder +1 more	GBenign
Select item 787483	NM_013447.4(ADGRE2):c.843C>A (p.Phe281Leu)	ADGRE2 (F281L)	Single nucleotide variant (missense variant)	ADGRE2-related disorder +1 more	GBenign
Select item 3042606	NM_013447.4(ADGRE2):c.807G>A (p.Pro269=)	ADGRE2	Single nucleotide variant (synonymous variant)	ADGRE2-related disorder	GLikely benign
Select item 3029902	NM_013447.4(ADGRE2):c.782-5T>C	ADGRE2	Single nucleotide variant (intron variant)	ADGRE2-related disorder	GLikely benign
Select item 3029409	NM_013447.4(ADGRE2):c.782-8C>G	ADGRE2	Single nucleotide variant (intron variant)	ADGRE2-related disorder	GLikely benign
Select item 3035633	NM_013447.4(ADGRE2):c.654C>T (p.Ser218=)	ADGRE2	Single nucleotide variant (synonymous variant)	ADGRE2-related disorder	GLikely benign
Select item 712244	NM_013447.4(ADGRE2):c.564G>C (p.Gln188His)	ADGRE2 (Q188H)	Single nucleotide variant (missense variant)	ADGRE2-related disorder +1 more	GBenign
Select item 3052714	NM_013447.4(ADGRE2):c.563A>G (p.Gln188Arg)	ADGRE2 (Q188R)	Single nucleotide variant (missense variant +1 more)	ADGRE2-related disorder	GBenign
Select item 786349	NM_013447.4(ADGRE2):c.533C>A (p.Thr178Asn)	ADGRE2 (T178N)	Single nucleotide variant (missense variant)	ADGRE2-related disorder +1 more	GBenign
Select item 3050177	NM_013447.4(ADGRE2):c.519A>G (p.Pro173=)	ADGRE2	Single nucleotide variant (synonymous variant +1 more)	ADGRE2-related disorder	GLikely benign
Select item 3044484	NM_013447.4(ADGRE2):c.499T>C (p.Cys167Arg)	ADGRE2 (C167R)	Single nucleotide variant (missense variant +1 more)	ADGRE2-related disorder	GBenign
Select item 713234	NM_013447.4(ADGRE2):c.488-7T>C	ADGRE2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3060872	NM_013447.4(ADGRE2):c.432G>C (p.Thr144=)	ADGRE2	Single nucleotide variant (synonymous variant +1 more)	ADGRE2-related disorder	GBenign
Select item 3059959	NM_013447.4(ADGRE2):c.429C>T (p.Tyr143=)	ADGRE2	Single nucleotide variant (synonymous variant +1 more)	ADGRE2-related disorder	GBenign
Select item 3060873	NM_013447.4(ADGRE2):c.420C>T (p.Leu140=)	ADGRE2	Single nucleotide variant (synonymous variant +1 more)	ADGRE2-related disorder	GBenign
Select item 2048422	NM_013447.4(ADGRE2):c.183C>G (p.Pro61=)	ADGRE2	Single nucleotide variant (synonymous variant)	ADGRE2-related disorder +1 more	GLikely benign
Select item 1686348	NM_013447.4(ADGRE2):c.138C>A (p.Arg46=)	ADGRE2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 2046282	NM_013447.4(ADGRE2):c.106G>A (p.Asp36Asn)	ADGRE2 (D36N)	Single nucleotide variant (missense variant)	ADGRE2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3049533	NM_013447.4(ADGRE2):c.-10A>T	ADGRE2	Single nucleotide variant (5 prime UTR variant)	ADGRE2-related disorder	GLikely benign

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Items: 28