3337[HGNC] - ClinVar - NCBI

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	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 2043923	NM_013447.4(ADGRE2):c.2464-17AT[7]	ADGRE2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2185142	NM_013447.4(ADGRE2):c.2464-17AT[5]	ADGRE2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2872048	NM_013447.4(ADGRE2):c.2463+19C>T	ADGRE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1908527	NM_013447.4(ADGRE2):c.2463+11G>A	ADGRE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2079167	NM_013447.4(ADGRE2):c.2463+1G>A	ADGRE2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2905783	NM_013447.4(ADGRE2):c.2463G>T (p.Thr821=)	ADGRE2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2042980	NM_013447.4(ADGRE2):c.2462C>T (p.Thr821Met)	ADGRE2 (T772M +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2179074	NM_013447.4(ADGRE2):c.2457del (p.Ser820fs)	ADGRE2 (S820fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3271033	NM_013447.4(ADGRE2):c.2456C>G (p.Pro819Arg)	ADGRE2 (P761R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 739831	NM_013447.4(ADGRE2):c.2445C>T (p.Asp815=)	ADGRE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1905126	NM_013447.4(ADGRE2):c.2437A>T (p.Lys813Ter)	ADGRE2 (K720* +3 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2129522	NM_013447.4(ADGRE2):c.2434G>A (p.Ala812Thr)	ADGRE2 (A754T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2962860	NM_013447.4(ADGRE2):c.2431A>G (p.Ser811Gly)	ADGRE2 (S718G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2330247	NM_013447.4(ADGRE2):c.2417A>G (p.His806Arg)	ADGRE2 (H713R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2723526	NM_013447.4(ADGRE2):c.2407T>A (p.Ser803Thr)	ADGRE2 (S754T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3084778	NM_013447.4(ADGRE2):c.2389A>G (p.Arg797Gly)	ADGRE2 (R739G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2715039	NM_013447.4(ADGRE2):c.2384_2385dup (p.Ile796fs)	ADGRE2 (I796fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
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 2032313	NM_013447.4(ADGRE2):c.2364A>G (p.Gln788=)	ADGRE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2038299	NM_013447.4(ADGRE2):c.2357G>A (p.Arg786Gln)	ADGRE2 (R693Q +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2085648	NM_013447.4(ADGRE2):c.2356C>T (p.Arg786Trp)	ADGRE2 (R728W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875764	NM_013447.4(ADGRE2):c.2353-7T>C	ADGRE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1987020	NM_013447.4(ADGRE2):c.2353-16C>T	ADGRE2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2974178	NM_013447.4(ADGRE2):c.2352+9G>T	ADGRE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2716173	NM_013447.4(ADGRE2):c.2352+2T>A	ADGRE2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1985847	NM_013447.4(ADGRE2):c.2343C>T (p.Leu781=)	ADGRE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2864102	NM_013447.4(ADGRE2):c.2341C>A (p.Leu781Ile)	ADGRE2 (L732I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2738238	NM_013447.4(ADGRE2):c.2314G>A (p.Val772Ile)	ADGRE2 (V772I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2314289	NM_013447.4(ADGRE2):c.2287T>G (p.Phe763Val)	ADGRE2 (F763V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3016964	NM_013447.4(ADGRE2):c.2270G>A (p.Arg757Gln)	ADGRE2 (R757Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2387771	NM_013447.4(ADGRE2):c.2269C>T (p.Arg757Trp)	ADGRE2 (R664W +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2817371	NM_013447.4(ADGRE2):c.2268C>A (p.Ala756=)	ADGRE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3021722	NM_013447.4(ADGRE2):c.2262G>A (p.Pro754=)	ADGRE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2185371	NM_013447.4(ADGRE2):c.2261C>T (p.Pro754Leu)	ADGRE2 (P661L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1914156	NM_013447.4(ADGRE2):c.2244C>T (p.Gly748=)	ADGRE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1994953	NM_013447.4(ADGRE2):c.2231C>G (p.Thr744Arg)	ADGRE2 (T686R +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1898759	NM_013447.4(ADGRE2):c.2231C>T (p.Thr744Met)	ADGRE2 (T695M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3270991	NM_013447.4(ADGRE2):c.2228G>T (p.Cys743Phe)	ADGRE2 (C650F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2762574	NM_013447.4(ADGRE2):c.2224G>A (p.Gly742Ser)	ADGRE2 (G693S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993700	NM_013447.4(ADGRE2):c.2218A>G (p.Ile740Val)	ADGRE2 (I647V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1909956	NM_013447.4(ADGRE2):c.2212C>T (p.Leu738=)	ADGRE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999363	NM_013447.4(ADGRE2):c.2210A>T (p.Gln737Leu)	ADGRE2 (Q737L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2031474	NM_013447.4(ADGRE2):c.2208T>G (p.Ala736=)	ADGRE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2077274	NM_013447.4(ADGRE2):c.2202G>A (p.Ala734=)	ADGRE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2421863	NM_013447.4(ADGRE2):c.2201C>T (p.Ala734Val)	ADGRE2 (A641V +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2053912	NM_013447.4(ADGRE2):c.2192C>T (p.Ala731Val)	ADGRE2 (A682V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2763736	NM_013447.4(ADGRE2):c.2187G>T (p.Met729Ile)	ADGRE2 (M636I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1684681	NM_013447.4(ADGRE2):c.2184-17_2184-3del	ADGRE2	Deletion (intron variant)	not specified	GBenign
Select item 3005827	NM_013447.4(ADGRE2):c.2183+18G>A	ADGRE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2852145	NM_013447.4(ADGRE2):c.2183+15G>C	ADGRE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992177	NM_013447.4(ADGRE2):c.2183+11G>A	ADGRE2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1927450	NM_013447.4(ADGRE2):c.2183+10_2183+11insT	ADGRE2	Insertion (intron variant)	not provided	GLikely benign
Select item 2419467	NM_013447.4(ADGRE2):c.2183+10A>C	ADGRE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2729211	NM_013447.4(ADGRE2):c.2173C>T (p.Arg725Trp)	ADGRE2 (R676W +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2899620	NM_013447.4(ADGRE2):c.2172C>A (p.Leu724=)	ADGRE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2037485	NM_013447.4(ADGRE2):c.2172C>T (p.Leu724=)	ADGRE2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1970119	NM_013447.4(ADGRE2):c.2164T>A (p.Ser722Thr)	ADGRE2 (S664T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2570055	NM_013447.4(ADGRE2):c.2162T>C (p.Val721Ala)	ADGRE2 (V721A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2126075	NM_013447.4(ADGRE2):c.2160A>C (p.Glu720Asp)	ADGRE2 (E662D +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2020037	NM_013447.4(ADGRE2):c.2153A>G (p.Asn718Ser)	ADGRE2 (N660S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2085868	NM_013447.4(ADGRE2):c.2138G>C (p.Arg713Thr)	ADGRE2 (R620T +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1684795	NM_013447.4(ADGRE2):c.2138G>T (p.Arg713Ile)	ADGRE2 (R655I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3084763	NM_013447.4(ADGRE2):c.2135A>G (p.Asn712Ser)	ADGRE2 (N619S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2756735	NM_013447.4(ADGRE2):c.2125A>G (p.Ile709Val)	ADGRE2 (I651V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2061293	NM_013447.4(ADGRE2):c.2124G>A (p.Trp708Ter)	ADGRE2 (W615* +3 more)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 2776515	NM_013447.4(ADGRE2):c.2121_2122del (p.Trp708fs)	ADGRE2 (W615fs +3 more)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2762189	NM_013447.4(ADGRE2):c.2122T>C (p.Trp708Arg)	ADGRE2 (W659R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2043690	NM_013447.4(ADGRE2):c.2113G>C (p.Val705Leu)	ADGRE2 (V612L +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2093946	NM_013447.4(ADGRE2):c.2111_2112insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAATTTAGTTCTCTTTCT (p.Leu704_Val705insPhePhePhePhePhePheXaaXaaXaaXaaLeuValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer)	ADGRE2	Insertion (nonsense +2 more)	not provided	GUncertain significance
Select item 2018087	NM_013447.4(ADGRE2):c.2112G>A (p.Leu704=)	ADGRE2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2054103	NM_013447.4(ADGRE2):c.2104C>A (p.Leu702Ile)	ADGRE2 (L609I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1903134	NM_013447.4(ADGRE2):c.2092-17_2092-15del	ADGRE2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2986011	NM_013447.4(ADGRE2):c.2080G>A (p.Ala694Thr)	ADGRE2 (A636T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1906303	NM_013447.4(ADGRE2):c.2079C>A (p.Cys693Ter)	ADGRE2 (C693* +3 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 782624	NM_013447.4(ADGRE2):c.2079C>T (p.Cys693=)	ADGRE2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2147493	NM_013447.4(ADGRE2):c.2072C>G (p.Pro691Arg)	ADGRE2 (P642R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3022634	NM_013447.4(ADGRE2):c.2063del (p.Phe688fs)	ADGRE2 (F595fs +3 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2155793	NM_013447.4(ADGRE2):c.2061C>A (p.Gly687=)	ADGRE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2044847	NM_013447.4(ADGRE2):c.2049_2059del (p.Phe684fs)	ADGRE2 (F626fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1928239	NM_013447.4(ADGRE2):c.2057G>A (p.Trp686Ter)	ADGRE2 (W686* +3 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2706609	NM_013447.4(ADGRE2):c.2054T>C (p.Ile685Thr)	ADGRE2 (I685T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892577	NM_013447.4(ADGRE2):c.2048G>A (p.Gly683Glu)	ADGRE2 (G625E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1921437	NM_013447.4(ADGRE2):c.2037A>T (p.Gln679His)	ADGRE2 (Q586H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2720688	NM_013447.4(ADGRE2):c.2032C>T (p.Leu678Phe)	ADGRE2 (L629F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008421	NM_013447.4(ADGRE2):c.2027G>T (p.Cys676Phe)	ADGRE2 (C627F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2075543	NM_013447.4(ADGRE2):c.2024+1G>A	ADGRE2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance

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