ADGRF3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933186, LOC129933187 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 153817	GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1	TRY-GTA2-1, UBXN2A +321 more	Copy number loss	See cases	GPathogenic
Select item 147963	GRCh38/hg38 2p23.3(chr2:25064306-27154398)x1	ABHD1, ADGRF3 +142 more	Copy number loss	See cases	GUncertain significance
Select item 58840	GRCh38/hg38 2p23.3(chr2:25759602-27297636)x3	ABHD1, ADGRF3 +99 more	Copy number gain	See cases	GUncertain significance
Select item 3085586	NM_001321971.2(ADGRF3):c.2930T>C (p.Ile977Thr)	ADGRF3 (I977T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296824	NM_001321971.2(ADGRF3):c.2906G>A (p.Arg969His)	ADGRF3 (R1037H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2395146	NM_001321971.2(ADGRF3):c.2890C>T (p.Arg964Cys)	ADGRF3 (R964C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271348	NM_001321971.2(ADGRF3):c.2806A>G (p.Ile936Val)	ADGRF3 (I935V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311939	NM_001321971.2(ADGRF3):c.2794G>C (p.Val932Leu)	ADGRF3 (V1000L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085572	NM_001321971.2(ADGRF3):c.2707G>A (p.Val903Met)	ADGRF3 (V902M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085564	NM_001321971.2(ADGRF3):c.2674C>G (p.Pro892Ala)	ADGRF3 (P563A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271386	NM_001321971.2(ADGRF3):c.2635G>A (p.Ala879Thr)	ADGRF3 (A550T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085560	NM_001321971.2(ADGRF3):c.2611G>A (p.Val871Met)	ADGRF3 (V870M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253697	NM_001321971.2(ADGRF3):c.2587G>C (p.Gly863Arg)	ADGRF3 (G534R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085555	NM_001321971.2(ADGRF3):c.2536G>A (p.Glu846Lys)	ADGRF3 (E715K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361575	NM_001321971.2(ADGRF3):c.2506C>G (p.Leu836Val)	ADGRF3 (L904V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2650742	NM_001321971.2(ADGRF3):c.2494G>A (p.Val832Ile)	ADGRF3 (V503I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2387187	NM_001321971.2(ADGRF3):c.2438G>A (p.Arg813Gln)	ADGRF3 (R682Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468069	NM_001321971.2(ADGRF3):c.2407C>T (p.Leu803Phe)	ADGRF3 (L474F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384447	NM_001321971.2(ADGRF3):c.2330C>A (p.Ala777Asp)	ADGRF3 (A845D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2650743	NM_001321971.2(ADGRF3):c.2305C>T (p.Arg769Ter)	ADGRF3 (R440* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GBenign
Select item 2324628	NM_001321971.2(ADGRF3):c.2195T>C (p.Val732Ala)	ADGRF3 (V403A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085539	NM_001321971.2(ADGRF3):c.2191G>A (p.Val731Met)	ADGRF3 (V402M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085532	NM_001321971.2(ADGRF3):c.2179G>T (p.Val727Leu)	ADGRF3 (V726L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326400	NM_001321971.2(ADGRF3):c.2175G>C (p.Trp725Cys)	ADGRF3 (W725C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513806	NM_001321971.2(ADGRF3):c.2132G>A (p.Gly711Glu)	ADGRF3 (G779E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085519	NM_001321971.2(ADGRF3):c.2099C>T (p.Pro700Leu)	ADGRF3 (P569L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533696	NM_001321971.2(ADGRF3):c.2078C>T (p.Pro693Leu)	ADGRF3 (P562L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607742	NM_001321971.2(ADGRF3):c.1974G>T (p.Arg658Ser)	ADGRF3 (R527S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467488	NM_001321971.2(ADGRF3):c.1909G>C (p.Asp637His)	ADGRF3 (D308H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543251	NM_001321971.2(ADGRF3):c.1906A>G (p.Met636Val)	ADGRF3 (M635V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282768	NM_001321971.2(ADGRF3):c.1817T>G (p.Leu606Arg)	ADGRF3 (L605R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085502	NM_001321971.2(ADGRF3):c.1736G>A (p.Arg579His)	ADGRF3 (R578H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3271337	NM_001321971.2(ADGRF3):c.1699G>T (p.Ala567Ser)	ADGRF3 (A436S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271425	NM_001321971.2(ADGRF3):c.1695G>T (p.Leu565=)	ADGRF3	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3085500	NM_001321971.2(ADGRF3):c.1655C>T (p.Pro552Leu)	ADGRF3 (P223L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464630	NM_001321971.2(ADGRF3):c.1649C>T (p.Thr550Met)	ADGRF3 (T549M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386223	NM_001321971.2(ADGRF3):c.1616A>G (p.Asn539Ser)	ADGRF3 (N539S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2496544	NM_001321971.2(ADGRF3):c.1600G>A (p.Ala534Thr)	ADGRF3 (A403T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2491406	NM_001321971.2(ADGRF3):c.1505C>T (p.Thr502Ile)	ADGRF3 (T173I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2650744	NM_001321971.2(ADGRF3):c.1494G>A (p.Arg498=)	ADGRF3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2525976	NM_001321971.2(ADGRF3):c.1494G>T (p.Arg498Ser)	ADGRF3 (R498S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2488292	NM_001321971.2(ADGRF3):c.1459A>T (p.Ile487Phe)	ADGRF3 (I158F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260705	NM_001321971.2(ADGRF3):c.1408G>A (p.Val470Met)	ADGRF3 (V339M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085470	NM_001321971.2(ADGRF3):c.1342G>A (p.Ala448Thr)	ADGRF3 (A119T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246611	NM_001321971.2(ADGRF3):c.1306G>C (p.Val436Leu)	ADGRF3 (V436L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271396	NM_001321971.2(ADGRF3):c.1278G>C (p.Gln426His)	ADGRF3 (Q295H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528215	NM_001321971.2(ADGRF3):c.1129G>C (p.Ala377Pro)	ADGRF3 (A376P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278234	NM_001321971.2(ADGRF3):c.1117A>C (p.Asn373His)	ADGRF3 (N372H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405377	NM_001321971.2(ADGRF3):c.1103C>T (p.Ser368Leu)	ADGRF3 (S39L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478189	NM_001321971.2(ADGRF3):c.1099G>A (p.Ala367Thr)	ADGRF3 (A367T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3085445	NM_001321971.2(ADGRF3):c.1085C>A (p.Thr362Asn)	ADGRF3 (T33N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359743	NM_001321971.2(ADGRF3):c.1071G>C (p.Gln357His)	ADGRF3 (Q28H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478516	NM_001321971.2(ADGRF3):c.1060A>G (p.Thr354Ala)	ADGRF3 (T223A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543313	NM_001321971.2(ADGRF3):c.986C>T (p.Pro329Leu)	ADGRF3 (P397L +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2316606	NM_001321971.2(ADGRF3):c.983G>C (p.Cys328Ser)	ADGRF3 (C197S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3085430	NM_001321971.2(ADGRF3):c.943G>C (p.Glu315Gln)	ADGRF3 (E184Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2383043	NM_001321971.2(ADGRF3):c.874C>A (p.Pro292Thr)	ADGRF3 (P291T +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3085424	NM_001321971.2(ADGRF3):c.830T>C (p.Ile277Thr)	ADGRF3 (I345T +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3271418	NM_001321971.2(ADGRF3):c.809G>A (p.Arg270Gln)	ADGRF3 (R270Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3271406	NM_001321971.2(ADGRF3):c.772G>A (p.Val258Met)	ADGRF3 (V257M +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2600849	NM_001321971.2(ADGRF3):c.746A>G (p.Gln249Arg)	ADGRF3 (Q248R +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3271376	NM_001321971.2(ADGRF3):c.692T>C (p.Val231Ala)	ADGRF3 (V230A +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3085610	NM_001321971.2(ADGRF3):c.691G>A (p.Val231Ile)	ADGRF3 (V230I +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
Select item 2489682	NM_001321971.2(ADGRF3):c.680C>T (p.Ala227Val)	ADGRF3 (A226V +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2253801	NM_001321971.2(ADGRF3):c.674G>A (p.Gly225Asp)	ADGRF3 (G225D +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2549479	NM_001321971.2(ADGRF3):c.671A>G (p.His224Arg)	ADGRF3 (H224R +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3085600	NM_001321971.2(ADGRF3):c.620C>T (p.Pro207Leu)	ADGRF3 (P206L +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3085599	NM_001321971.2(ADGRF3):c.545A>C (p.Asp182Ala)	ADGRF3 (D250A +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2234833	NM_001321971.2(ADGRF3):c.524C>T (p.Ser175Phe)	ADGRF3 (S243F +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2516991	NM_001321971.2(ADGRF3):c.500-4G>A	ADGRF3 (A165T +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2606468	NM_001321971.2(ADGRF3):c.430A>G (p.Asn144Asp)	ADGRF3 (N134D +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2605417	NM_001321971.2(ADGRF3):c.395T>A (p.Ile132Asn)	ADGRF3 (I122N +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2262729	NM_001321971.2(ADGRF3):c.352T>G (p.Phe118Val)	ADGRF3 (F108V +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3271366	NM_001321971.2(ADGRF3):c.332A>G (p.Asn111Ser)	ADGRF3 (N101S +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2406737	NM_001321971.2(ADGRF3):c.263T>G (p.Leu88Arg)	ADGRF3 (L147R +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2477162	NM_001321971.2(ADGRF3):c.143G>T (p.Gly48Val)	ADGRF3 (G107V +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2598732	NM_001321971.2(ADGRF3):c.115-484C>A	ADGRF3 (Q86K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516860	NM_001321971.2(ADGRF3):c.115-541C>T	ADGRF3 (P67S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342923	NM_001321971.2(ADGRF3):c.115-556C>A	ADGRF3 (P62T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225301	NM_001321971.2(ADGRF3):c.115-1349C>A	ADGRF3 (P47T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271356	NM_001321971.2(ADGRF3):c.115-1360G>A	ADGRF3 (R43Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283527	NM_001321971.2(ADGRF3):c.115-1477C>T	ADGRF3 (S4L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 60106	GRCh38/hg38 2p23.3(chr2:26332971-26439657)x1	ADGRF3, DRC1 +4 more	Copy number loss	See cases	GPathogenic
Select item 3247339	NC_000002.11:g.(?_26486228)_(26781439_?)del	ADGRF3, DRC1 +3 more	Deletion	Mitochondrial trifunctional protein deficiency	GPathogenic
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3062643	GRCh37/hg19 2p23.3(chr2:25929370-26572068)x1	ADGRF3, ASXL2 +6 more	Copy number loss	not specified	GUncertain significance
Select item 2427621	NC_000002.11:g.(?_26414119)_(26712628_?)dup	ADGRF3, DRC1 +4 more	Duplication	not provided	GUncertain significance
Select item 2427541	NC_000002.11:g.(?_24443763)_(29022169_?)dup	ABHD1, ADCY3 +65 more	Duplication	not provided	GUncertain significance
Select item 2425074	NC_000002.11:g.(?_24443763)_(30143525_?)dup	ADGRF3, AGBL5 +72 more	Duplication	not provided	GUncertain significance
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1220534	GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3	OTOF, OXER1 +131 more	Copy number gain	See cases	GPathogenic
Select item 1176757	GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3	DNAJC27, DNAJC5G +131 more	Copy number gain	not provided	GLikely pathogenic

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