ClinVar for Gene (Select 25960) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3135041	NM_018310.4(BRF2):c.992A>T (p.Gln331Leu)	ADGRA2, BRF2 (Q331L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3135038	NM_018310.4(BRF2):c.1210A>G (p.Arg404Gly)	ADGRA2, BRF2 (R404G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3135037	NM_018310.4(BRF2):c.1186C>T (p.Pro396Ser)	ADGRA2, BRF2 (P396S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3135035	NM_018310.4(BRF2):c.1001G>A (p.Gly334Glu)	ADGRA2, BRF2 (G334E)	Single nucleotide variant (3 prime UTR variant +1 more)	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 3083516	NM_032777.10(ADGRA2):c.784G>A (p.Asp262Asn)	ADGRA2 (D262N)	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 3083506	NM_032777.10(ADGRA2):c.3913G>A (p.Ala1305Thr)	ADGRA2 (A1305T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083501	NM_032777.10(ADGRA2):c.3797C>T (p.Ala1266Val)	ADGRA2 (A1266V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083495	NM_032777.10(ADGRA2):c.3625G>A (p.Ala1209Thr)	ADGRA2 (A1209T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083492	NM_032777.10(ADGRA2):c.3485C>G (p.Ala1162Gly)	ADGRA2 (A1162G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083488	NM_032777.10(ADGRA2):c.3280G>T (p.Ala1094Ser)	ADGRA2 (A1094S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083453	NM_032777.10(ADGRA2):c.2671G>T (p.Ala891Ser)	ADGRA2 (A891S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083445	NM_032777.10(ADGRA2):c.2608C>A (p.Pro870Thr)	ADGRA2 (P870T)	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 3083421	NM_032777.10(ADGRA2):c.2165G>A (p.Gly722Glu)	ADGRA2 (G722E)	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 3083377	NM_032777.10(ADGRA2):c.1222C>T (p.Arg408Cys)	ADGRA2 (R408C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063038	GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	ADAM18, ADAM2 +150 more	Copy number gain	not specified	GPathogenic
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	DEFB134, DEFB135 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	ADAM18, ADAM2 +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2684528	GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	ADAM28, ADAM7 +145 more	Copy number gain	not provided	GPathogenic
Select item 2684526	GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3	ADAM28, ADAM7 +140 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	ADAM18, ADAM2 +225 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2658538	NM_032777.10(ADGRA2):c.3437T>C (p.Val1146Ala)	ADGRA2 (V1146A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2622478	NM_032777.10(ADGRA2):c.2758G>A (p.Val920Met)	ADGRA2 (V920M)	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 2609624	NM_032777.10(ADGRA2):c.878A>G (p.Gln293Arg)	ADGRA2 (Q293R)	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 2598721	NM_032777.10(ADGRA2):c.2269G>A (p.Ala757Thr)	ADGRA2 (A757T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594714	NM_018310.4(BRF2):c.1181G>A (p.Arg394His)	ADGRA2, BRF2 (R394H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2580355	GRCh37/hg19 8p11.23-q11.21(chr8:36763176-50929707)x3	NKX6-3, PPDPFL +64 more	Copy number gain	See cases	GPathogenic
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 2559948	NM_032777.10(ADGRA2):c.1607T>G (p.Val536Gly)	ADGRA2 (V536G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2551223	NM_032777.10(ADGRA2):c.2495A>G (p.Gln832Arg)	ADGRA2 (Q832R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545195	NM_018310.4(BRF2):c.919C>G (p.Leu307Val)	ADGRA2, BRF2 (L307V)	Single nucleotide variant (3 prime UTR variant +1 more)	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 2520490	NM_032777.10(ADGRA2):c.1795G>A (p.Gly599Arg)	ADGRA2 (G599R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519825	NM_032777.10(ADGRA2):c.3575C>A (p.Ala1192Glu)	ADGRA2 (A1192E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519537	NM_032777.10(ADGRA2):c.3731T>C (p.Leu1244Pro)	ADGRA2 (L1244P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519091	NM_032777.10(ADGRA2):c.2996G>A (p.Arg999Gln)	ADGRA2 (R999Q)	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 2495060	NM_032777.10(ADGRA2):c.3857T>C (p.Leu1286Pro)	ADGRA2 (L1286P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2489938	NM_032777.10(ADGRA2):c.3044C>T (p.Pro1015Leu)	ADGRA2 (P1015L)	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 2477661	NM_032777.10(ADGRA2):c.3367G>C (p.Gly1123Arg)	ADGRA2 (G1123R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475295	NM_032777.10(ADGRA2):c.3848G>C (p.Gly1283Ala)	ADGRA2 (G1283A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474392	NM_032777.10(ADGRA2):c.2743C>G (p.Pro915Ala)	ADGRA2 (P915A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469781	NM_032777.10(ADGRA2):c.2570C>T (p.Ala857Val)	ADGRA2 (A857V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466640	NM_032777.10(ADGRA2):c.3323C>T (p.Pro1108Leu)	ADGRA2 (P1108L)	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 2465208	NM_032777.10(ADGRA2):c.3793G>A (p.Glu1265Lys)	ADGRA2 (E1265K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460904	NM_018310.4(BRF2):c.937C>T (p.Arg313Trp)	ADGRA2, BRF2 (R313W)	Single nucleotide variant (3 prime UTR variant +1 more)	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 2455781	NM_032777.10(ADGRA2):c.1204C>T (p.Arg402Trp)	ADGRA2 (R402W)	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 2425692	NC_000008.10:g.(?_37595441)_(38961219_?)dup	ADAM9, ADGRA2 +21 more	Duplication	Hereditary spastic paraplegia 54 +3 more	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 2410376	NM_018310.4(BRF2):c.1103G>A (p.Arg368Gln)	ADGRA2, BRF2 (R368Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2409833	NM_018310.4(BRF2):c.1229A>G (p.Gln410Arg)	ADGRA2, BRF2 (Q410R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2405267	NM_032777.10(ADGRA2):c.3127C>T (p.Arg1043Cys)	ADGRA2 (R1043C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404083	NM_018310.4(BRF2):c.1136C>T (p.Thr379Ile)	ADGRA2, BRF2 (T379I)	Single nucleotide variant (3 prime UTR variant +1 more)	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 2402740	NM_018310.4(BRF2):c.980C>T (p.Pro327Leu)	ADGRA2, BRF2 (P327L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2398304	NM_018310.4(BRF2):c.1102C>T (p.Arg368Trp)	ADGRA2, BRF2 (R368W)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2394864	NM_032777.10(ADGRA2):c.3028G>A (p.Asp1010Asn)	ADGRA2 (D1010N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387919	NM_032777.10(ADGRA2):c.3071C>G (p.Thr1024Ser)	ADGRA2 (T1024S)	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 2375622	NM_032777.10(ADGRA2):c.479G>A (p.Arg160Gln)	ADGRA2 (R160Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374971	NM_018310.4(BRF2):c.1013T>G (p.Val338Gly)	ADGRA2, BRF2 (V338G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2368602	NM_018310.4(BRF2):c.1238C>T (p.Thr413Met)	ADGRA2, BRF2 (T413M)	Single nucleotide variant (3 prime UTR variant +1 more)	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 2367310	NM_032777.10(ADGRA2):c.2330C>T (p.Thr777Met)	ADGRA2 (T777M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363266	NM_018310.4(BRF2):c.1130C>T (p.Thr377Ile)	ADGRA2, BRF2 (T377I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2360965	NM_032777.10(ADGRA2):c.3826A>G (p.Ser1276Gly)	ADGRA2 (S1276G)	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 2358274	NM_032777.10(ADGRA2):c.1565T>C (p.Ile522Thr)	ADGRA2 (I522T)	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 2354177	NM_032777.10(ADGRA2):c.1706C>T (p.Pro569Leu)	ADGRA2 (P569L)	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 2343293	NM_032777.10(ADGRA2):c.1984C>T (p.Arg662Cys)	ADGRA2 (R662C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340707	NM_032777.10(ADGRA2):c.3244G>T (p.Ala1082Ser)	ADGRA2 (A1082S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336063	NM_032777.10(ADGRA2):c.3989G>A (p.Gly1330Glu)	ADGRA2 (G1330E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334704	NM_018310.4(BRF2):c.1112C>G (p.Pro371Arg)	ADGRA2, BRF2 (P371R)	Single nucleotide variant (3 prime UTR variant +1 more)	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 2326399	NM_032777.10(ADGRA2):c.1183C>T (p.Pro395Ser)	ADGRA2 (P395S)	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 2315157	NM_032777.10(ADGRA2):c.841T>C (p.Trp281Arg)	ADGRA2 (W281R)	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 2299321	NM_032777.10(ADGRA2):c.2098C>T (p.Arg700Trp)	ADGRA2 (R700W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294266	NM_032777.10(ADGRA2):c.2451G>A (p.Met817Ile)	ADGRA2 (M817I)	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 2290965	NM_032777.10(ADGRA2):c.304G>A (p.Gly102Ser)	ADGRA2 (G102S)	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

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