ADGRA2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	LOC130000032, LOC130000033 +1105 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	DPYSL2, DUSP26 +1020 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	LOC130000106, LOC130000107 +937 more	Copy number gain	See cases	GPathogenic
Select item 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	LOC130000241, LOC130000242 +934 more	Copy number gain	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC129999967, LOC129999968 +870 more	Copy number gain	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	KAT6A-AS1, KCNU1 +929 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC130000074, LOC130000075 +929 more	Copy number gain	See cases	GPathogenic
Select item 59763	GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3	TNFRSF10A, TNFRSF10A-DT +705 more	Copy number gain	See cases	GPathogenic
Select item 34276	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	ADAM18, ADAM2 +870 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	LOC124153144, LOC124153145 +818 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC113788268, LOC113788269 +929 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC130000303, LOC130000304 +922 more	Copy number gain	See cases	GPathogenic
Select item 147303	GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	LOC113788272, LOC113788273 +807 more	Copy number gain	See cases	GPathogenic
Select item 57410	GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3	LOC130000012, LOC130000013 +857 more	Copy number gain	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 150985	GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	LOC130000050, LOC130000051 +791 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	LOC130000309, LOC130000310 +900 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 57237	GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3	LOC130000135, LOC130000136 +593 more	Copy number gain	See cases	GPathogenic
Select item 147723	GRCh38/hg38 8p12-11.21(chr8:29362097-40231708)x1	ADAM18, ADAM2 +288 more	Copy number loss	See cases	GPathogenic
Select item 57312	GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3	ADAM18, ADAM2 +419 more	Copy number gain	See cases	GPathogenic
Select item 57114	GRCh38/hg38 8p12-11.21(chr8:34312250-43158901)x1	ADAM18, ADAM2 +276 more	Copy number loss	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	ADAM18, ADAM2 +543 more	Copy number gain	See cases	GPathogenic
Select item 3270257	NM_032777.10(ADGRA2):c.32C>A (p.Ala11Glu)	ADGRA2 (A11E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301828	NM_032777.10(ADGRA2):c.40C>A (p.Arg14Ser)	ADGRA2 (R14S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270281	NM_032777.10(ADGRA2):c.86C>T (p.Pro29Leu)	ADGRA2 (P29L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387655	NM_032777.10(ADGRA2):c.88G>A (p.Glu30Lys)	ADGRA2 (E30K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377125	NM_032777.10(ADGRA2):c.100G>T (p.Ala34Ser)	ADGRA2 (A34S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2235750	NM_032777.10(ADGRA2):c.169G>C (p.Gly57Arg)	ADGRA2, LOC130000206 (G57R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367413	NM_032777.10(ADGRA2):c.178G>A (p.Gly60Ser)	ADGRA2, LOC130000206 (G60S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539227	NM_032777.10(ADGRA2):c.244C>A (p.Leu82Met)	ADGRA2 (L82M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270298	NM_032777.10(ADGRA2):c.260T>C (p.Val87Ala)	ADGRA2 (V87A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579179	GRCh38/hg38 8p11.23-11.22(chr8:37814644-38528889)x1	ADGRA2, ADRB3 +53 more	Copy number loss	Hypogonadotropic hypogonadism 2 with or without anosmia	GPathogenic
Select item 2491405	NM_032777.10(ADGRA2):c.289A>G (p.Thr97Ala)	ADGRA2 (T97A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290965	NM_032777.10(ADGRA2):c.304G>A (p.Gly102Ser)	ADGRA2 (G102S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225386	NM_032777.10(ADGRA2):c.347G>C (p.Arg116Thr)	ADGRA2 (R116T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083511	NM_032777.10(ADGRA2):c.427C>T (p.Arg143Trp)	ADGRA2 (R143W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215458	NM_032777.10(ADGRA2):c.448G>A (p.Glu150Lys)	ADGRA2 (E150K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324831	NM_032777.10(ADGRA2):c.469A>G (p.Arg157Gly)	ADGRA2 (R157G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375622	NM_032777.10(ADGRA2):c.479G>A (p.Arg160Gln)	ADGRA2 (R160Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250906	NM_032777.10(ADGRA2):c.578C>T (p.Thr193Ile)	ADGRA2 (T193I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253521	NM_032777.10(ADGRA2):c.656C>T (p.Ala219Val)	ADGRA2 (A219V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237606	NM_032777.10(ADGRA2):c.702G>T (p.Glu234Asp)	ADGRA2 (E234D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251527	NM_032777.10(ADGRA2):c.755C>A (p.Pro252Gln)	ADGRA2 (P252Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083516	NM_032777.10(ADGRA2):c.784G>A (p.Asp262Asn)	ADGRA2 (D262N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315157	NM_032777.10(ADGRA2):c.841T>C (p.Trp281Arg)	ADGRA2 (W281R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482666	NM_032777.10(ADGRA2):c.843G>T (p.Trp281Cys)	ADGRA2 (W281C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609624	NM_032777.10(ADGRA2):c.878A>G (p.Gln293Arg)	ADGRA2 (Q293R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083521	NM_032777.10(ADGRA2):c.881C>G (p.Ala294Gly)	ADGRA2 (A294G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352549	NM_032777.10(ADGRA2):c.958G>T (p.Val320Leu)	ADGRA2 (V320L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294176	NM_032777.10(ADGRA2):c.1009G>A (p.Ala337Thr)	ADGRA2 (A337T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225669	NM_032777.10(ADGRA2):c.1181C>A (p.Ala394Asp)	ADGRA2 (A394D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326399	NM_032777.10(ADGRA2):c.1183C>T (p.Pro395Ser)	ADGRA2 (P395S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330678	NM_032777.10(ADGRA2):c.1193G>A (p.Arg398Gln)	ADGRA2 (R398Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517169	NM_032777.10(ADGRA2):c.1202G>A (p.Arg401His)	ADGRA2 (R401H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455781	NM_032777.10(ADGRA2):c.1204C>T (p.Arg402Trp)	ADGRA2 (R402W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083377	NM_032777.10(ADGRA2):c.1222C>T (p.Arg408Cys)	ADGRA2 (R408C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242856	NM_032777.10(ADGRA2):c.1223G>A (p.Arg408His)	ADGRA2 (R408H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270287	NM_032777.10(ADGRA2):c.1235G>A (p.Gly412Glu)	ADGRA2 (G412E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 487806	NM_032777.10(ADGRA2):c.1316_1334del (p.Asn439fs)	ADGRA2 (N439fs)	Deletion (frameshift variant)	Ependymoma	GUncertain significance
Select item 3270237	NM_032777.10(ADGRA2):c.1343G>A (p.Arg448His)	ADGRA2 (R448H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246100	NM_032777.10(ADGRA2):c.1349A>T (p.Tyr450Phe)	ADGRA2 (Y450F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454448	NM_032777.10(ADGRA2):c.1520G>A (p.Arg507His)	ADGRA2 (R507H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402743	NM_032777.10(ADGRA2):c.1541G>A (p.Arg514His)	ADGRA2 (R514H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600901	NM_032777.10(ADGRA2):c.1546G>A (p.Val516Met)	ADGRA2 (V516M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358274	NM_032777.10(ADGRA2):c.1565T>C (p.Ile522Thr)	ADGRA2 (I522T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559948	NM_032777.10(ADGRA2):c.1607T>G (p.Val536Gly)	ADGRA2 (V536G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716089	NM_032777.10(ADGRA2):c.1608+5T>C	ADGRA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2263317	NM_032777.10(ADGRA2):c.1613C>T (p.Ala538Val)	ADGRA2 (A538V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279861	NM_032777.10(ADGRA2):c.1640T>A (p.Leu547His)	ADGRA2 (L547H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354177	NM_032777.10(ADGRA2):c.1706C>T (p.Pro569Leu)	ADGRA2 (P569L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270228	NM_032777.10(ADGRA2):c.1742C>A (p.Pro581Gln)	ADGRA2 (P581Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290418	NM_032777.10(ADGRA2):c.1742C>T (p.Pro581Leu)	ADGRA2 (P581L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203829	NM_032777.10(ADGRA2):c.1747G>A (p.Glu583Lys)	ADGRA2 (E583K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251233	NM_032777.10(ADGRA2):c.1777C>T (p.Arg593Cys)	ADGRA2 (R593C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520490	NM_032777.10(ADGRA2):c.1795G>A (p.Gly599Arg)	ADGRA2 (G599R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456101	NM_032777.10(ADGRA2):c.1799G>A (p.Arg600Lys)	ADGRA2 (R600K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619322	NM_032777.10(ADGRA2):c.1880C>T (p.Ser627Leu)	ADGRA2 (S627L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356578	NM_032777.10(ADGRA2):c.1954C>T (p.Arg652Cys)	ADGRA2 (R652C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343293	NM_032777.10(ADGRA2):c.1984C>T (p.Arg662Cys)	ADGRA2 (R662C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083412	NM_032777.10(ADGRA2):c.2012G>A (p.Arg671Lys)	ADGRA2 (R671K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775264	NM_032777.10(ADGRA2):c.2013G>A (p.Arg671=)	ADGRA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776318	NM_032777.10(ADGRA2):c.2041G>A (p.Ala681Thr)	ADGRA2 (A681T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2553007	NM_032777.10(ADGRA2):c.2066G>A (p.Gly689Glu)	ADGRA2 (G689E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299321	NM_032777.10(ADGRA2):c.2098C>T (p.Arg700Trp)	ADGRA2 (R700W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359756	NM_032777.10(ADGRA2):c.2104T>C (p.Trp702Arg)	ADGRA2 (W702R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410941	NM_032777.10(ADGRA2):c.2119G>A (p.Glu707Lys)	ADGRA2 (E707K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270268	NM_032777.10(ADGRA2):c.2164G>A (p.Gly722Arg)	ADGRA2 (G722R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083421	NM_032777.10(ADGRA2):c.2165G>A (p.Gly722Glu)	ADGRA2 (G722E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083424	NM_032777.10(ADGRA2):c.2177C>T (p.Ser726Leu)	ADGRA2 (S726L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270277	NM_032777.10(ADGRA2):c.2226C>G (p.His742Gln)	ADGRA2 (H742Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465913	NM_032777.10(ADGRA2):c.2254C>T (p.Leu752Phe)	ADGRA2 (L752F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598721	NM_032777.10(ADGRA2):c.2269G>A (p.Ala757Thr)	ADGRA2 (A757T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367310	NM_032777.10(ADGRA2):c.2330C>T (p.Thr777Met)	ADGRA2 (T777M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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