ClinVar for Gene (Select 91010) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3310383	NM_001031698.3(PRPF40B):c.1846G>A (p.Ala616Thr)	FMNL3, PRPF40B (A497T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310378	NM_001031698.3(PRPF40B):c.1430T>C (p.Met477Thr)	FMNL3, PRPF40B (M477T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310377	NM_001031698.3(PRPF40B):c.2227G>C (p.Glu743Gln)	FMNL3, PRPF40B (E624Q +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310370	NM_001031698.3(PRPF40B):c.1429A>G (p.Met477Val)	FMNL3, PRPF40B (M358V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310369	NM_001031698.3(PRPF40B):c.1924A>G (p.Lys642Glu)	FMNL3, PRPF40B (K523E +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3279344	NM_175736.5(FMNL3):c.320C>T (p.Thr107Ile)	FMNL3 (T107I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279343	NM_175736.5(FMNL3):c.3009G>C (p.Gln1003His)	FMNL3 (Q1003H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3279342	NM_175736.5(FMNL3):c.831T>G (p.Cys277Trp)	FMNL3 (C226W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279341	NM_175736.5(FMNL3):c.2375G>A (p.Ser792Asn)	FMNL3 (S792N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279340	NM_175736.5(FMNL3):c.2348G>C (p.Gly783Ala)	FMNL3 (G783A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279339	NM_175736.5(FMNL3):c.2519C>G (p.Ser840Cys)	FMNL3 (S789C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279338	NM_175736.5(FMNL3):c.2578C>T (p.Arg860Cys)	FMNL3 (R860C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279337	NM_175736.5(FMNL3):c.725A>G (p.Asn242Ser)	FMNL3 (N242S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279336	NM_175736.5(FMNL3):c.2623A>G (p.Ser875Gly)	FMNL3 (S824G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279335	NM_175736.5(FMNL3):c.2048G>A (p.Arg683His)	FMNL3 (R632H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279334	NM_175736.5(FMNL3):c.1437G>C (p.Glu479Asp)	FMNL3 (E428D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279333	NM_175736.5(FMNL3):c.528G>C (p.Glu176Asp)	FMNL3 (E176D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3234356	NM_001031698.3(PRPF40B):c.1986T>A (p.Ala662=)	FMNL3, PRPF40B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3219196	NM_001031698.3(PRPF40B):c.2647A>G (p.Thr883Ala)	FMNL3, PRPF40B (T764A +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219195	NM_001031698.3(PRPF40B):c.2645G>A (p.Arg882Gln)	FMNL3, PRPF40B (R818Q +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219194	NM_001031698.3(PRPF40B):c.2641C>T (p.Arg881Trp)	FMNL3, PRPF40B (R881W +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219193	NM_001031698.3(PRPF40B):c.2638C>T (p.Arg880Trp)	FMNL3, PRPF40B (R817W +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219192	NM_001031698.3(PRPF40B):c.2436C>G (p.His812Gln)	FMNL3, PRPF40B (H748Q +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219190	NM_001031698.3(PRPF40B):c.2336C>T (p.Ala779Val)	FMNL3, PRPF40B (A745V +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219189	NM_001031698.3(PRPF40B):c.2313T>G (p.Asp771Glu)	FMNL3, PRPF40B (D708E +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219188	NM_001031698.3(PRPF40B):c.2255C>G (p.Pro752Arg)	FMNL3, PRPF40B (P688R +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219187	NM_001031698.3(PRPF40B):c.2186A>G (p.Lys729Arg)	FMNL3, PRPF40B (K610R +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219186	NM_001031698.3(PRPF40B):c.2075C>T (p.Ser692Leu)	FMNL3, PRPF40B (S573L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219185	NM_001031698.3(PRPF40B):c.2027G>A (p.Arg676His)	FMNL3, PRPF40B (R557H +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219184	NM_001031698.3(PRPF40B):c.1946G>A (p.Arg649Gln)	FMNL3, PRPF40B (R530Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219182	NM_001031698.3(PRPF40B):c.1906C>T (p.Arg636Trp)	FMNL3, PRPF40B (R601W +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219181	NM_001031698.3(PRPF40B):c.1897G>T (p.Ala633Ser)	FMNL3, PRPF40B (A623S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219180	NM_001031698.3(PRPF40B):c.1816C>T (p.His606Tyr)	FMNL3, PRPF40B (H542Y +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219179	NM_001031698.3(PRPF40B):c.1799C>T (p.Ala600Val)	FMNL3, PRPF40B (A481V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219178	NM_001031698.3(PRPF40B):c.1753A>C (p.Lys585Gln)	FMNL3, PRPF40B (K521Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219177	NM_001031698.3(PRPF40B):c.1703T>A (p.Phe568Tyr)	FMNL3, PRPF40B (F449Y +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219175	NM_001031698.3(PRPF40B):c.1502G>A (p.Arg501Gln)	FMNL3, PRPF40B (R382Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095872	NM_175736.5(FMNL3):c.988G>A (p.Val330Met)	FMNL3 (V330M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095871	NM_175736.5(FMNL3):c.608A>C (p.Tyr203Ser)	FMNL3 (Y152S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095870	NM_175736.5(FMNL3):c.581G>A (p.Arg194His)	FMNL3 (R194H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095869	NM_175736.5(FMNL3):c.551T>C (p.Leu184Pro)	FMNL3 (L184P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095868	NM_175736.5(FMNL3):c.44C>A (p.Pro15His)	FMNL3, LOC130007857 (P15H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095867	NM_175736.5(FMNL3):c.2579G>T (p.Arg860Leu)	FMNL3 (R809L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095866	NM_175736.5(FMNL3):c.24G>C (p.Glu8Asp)	FMNL3, LOC130007857 (E8D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095865	NM_175736.5(FMNL3):c.2473A>G (p.Asn825Asp)	FMNL3 (N774D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095864	NM_175736.5(FMNL3):c.2258C>T (p.Ala753Val)	FMNL3 (A702V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095863	NM_175736.5(FMNL3):c.2095C>T (p.Arg699Trp)	FMNL3 (R648W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095862	NM_175736.5(FMNL3):c.1645T>G (p.Ser549Ala)	FMNL3 (S549A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095861	NM_175736.5(FMNL3):c.1547T>C (p.Leu516Pro)	FMNL3 (L465P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095860	NM_175736.5(FMNL3):c.1504G>A (p.Asp502Asn)	FMNL3 (D502N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3095859	NM_175736.5(FMNL3):c.1246G>C (p.Glu416Gln)	FMNL3 (E365Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616884	NM_001031698.3(PRPF40B):c.2260C>T (p.Arg754Trp)	FMNL3, PRPF40B (R691W +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591795	NM_175736.5(FMNL3):c.179A>G (p.Asn60Ser)	FMNL3 (N60S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556534	NM_175736.5(FMNL3):c.2275T>G (p.Ser759Ala)	FMNL3 (S759A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548333	NM_175736.5(FMNL3):c.13G>A (p.Glu5Lys)	FMNL3, LOC130007857 (E5K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547655	NM_175736.5(FMNL3):c.3047C>G (p.Pro1016Arg)	FMNL3 (P1016R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2546088	NM_001031698.3(PRPF40B):c.1919G>A (p.Arg640Gln)	FMNL3, PRPF40B (R521Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529742	NM_175736.5(FMNL3):c.2767C>T (p.Arg923Cys)	FMNL3 (R923C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529504	NM_175736.5(FMNL3):c.992T>C (p.Val331Ala)	FMNL3 (V280A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523147	NM_175736.5(FMNL3):c.2263G>A (p.Ala755Thr)	FMNL3 (A704T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516053	NM_175736.5(FMNL3):c.1388A>C (p.Glu463Ala)	FMNL3 (E463A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514883	NM_175736.5(FMNL3):c.2885G>A (p.Arg962Gln)	FMNL3 (R911Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496232	NM_175736.5(FMNL3):c.3009G>T (p.Gln1003His)	FMNL3 (Q952H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2472117	NM_175736.5(FMNL3):c.1661T>C (p.Val554Ala)	FMNL3 (V503A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467912	NM_175736.5(FMNL3):c.2630A>G (p.Asn877Ser)	FMNL3 (N826S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467315	NM_175736.5(FMNL3):c.2702A>T (p.Tyr901Phe)	FMNL3 (Y850F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466380	NM_175736.5(FMNL3):c.2927G>A (p.Arg976Gln)	FMNL3 (R976Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411916	NM_175736.5(FMNL3):c.2611C>T (p.Arg871Trp)	FMNL3 (R820W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410768	NM_001031698.3(PRPF40B):c.2315C>T (p.Ser772Leu)	FMNL3, PRPF40B (S736L +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409432	NM_001031698.3(PRPF40B):c.1949G>A (p.Arg650His)	FMNL3, PRPF40B (R615H +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401143	NM_175736.5(FMNL3):c.646C>T (p.Arg216Cys)	FMNL3 (R216C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399403	NM_175736.5(FMNL3):c.1542G>C (p.Glu514Asp)	FMNL3 (E514D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389251	NM_175736.5(FMNL3):c.2680G>A (p.Ala894Thr)	FMNL3 (A843T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386091	NM_001031698.3(PRPF40B):c.1519C>T (p.Arg507Trp)	FMNL3, PRPF40B (R443W +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385450	NM_175736.5(FMNL3):c.2291A>G (p.Lys764Arg)	FMNL3 (K764R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383779	NM_001031698.3(PRPF40B):c.1783G>C (p.Val595Leu)	FMNL3, PRPF40B (V558L +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2378786	NM_175736.5(FMNL3):c.3064C>T (p.Arg1022Trp)	FMNL3 (R971W +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2378536	NM_175736.5(FMNL3):c.2545A>C (p.Lys849Gln)	FMNL3 (K849Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372239	NM_175736.5(FMNL3):c.910G>C (p.Glu304Gln)	FMNL3 (E253Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370291	NM_175736.5(FMNL3):c.2804G>A (p.Arg935His)	FMNL3 (R935H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352701	NM_175736.5(FMNL3):c.2483A>C (p.His828Pro)	FMNL3 (H777P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344573	NM_175736.5(FMNL3):c.3014T>C (p.Met1005Thr)	FMNL3 (M1005T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2334522	NM_175736.5(FMNL3):c.625C>T (p.Arg209Cys)	FMNL3 (R158C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307126	NM_175736.5(FMNL3):c.412G>T (p.Val138Leu)	FMNL3 (V138L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295853	NM_175736.5(FMNL3):c.665A>T (p.Asp222Val)	FMNL3 (D222V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295156	NM_175736.5(FMNL3):c.2251A>C (p.Ile751Leu)	FMNL3 (I751L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287544	NM_175736.5(FMNL3):c.2310A>G (p.Ile770Met)	FMNL3 (I719M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286017	NM_175736.5(FMNL3):c.3065G>A (p.Arg1022Gln)	FMNL3 (R971Q +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2274107	NM_175736.5(FMNL3):c.1580C>T (p.Pro527Leu)	FMNL3 (P476L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258912	NM_175736.5(FMNL3):c.275C>T (p.Pro92Leu)	FMNL3 (P92L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254819	NM_175736.5(FMNL3):c.1211A>G (p.His404Arg)	FMNL3 (H353R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254700	NM_001031698.3(PRPF40B):c.1646T>C (p.Val549Ala)	FMNL3, PRPF40B (V512A +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250931	NM_175736.5(FMNL3):c.1494G>T (p.Met498Ile)	FMNL3 (M447I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244142	NM_175736.5(FMNL3):c.2228T>A (p.Leu743His)	FMNL3 (L692H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240090	NM_175736.5(FMNL3):c.3025C>T (p.His1009Tyr)	FMNL3 (H1009Y +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2239351	NM_175736.5(FMNL3):c.1861C>T (p.Leu621Phe)	FMNL3 (L570F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223894	NM_001031698.3(PRPF40B):c.1645G>A (p.Val549Ile)	FMNL3, PRPF40B (V485I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208581	NM_175736.5(FMNL3):c.484G>A (p.Asp162Asn)	FMNL3 (D162N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208472	NM_001031698.3(PRPF40B):c.1923G>C (p.Glu641Asp)	FMNL3, PRPF40B (E614D +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1527709	GRCh37/hg19 12q13.12(chr12:49976064-50147736)	FAM186B, FMNL3 +2 more	Copy number loss	not specified	GUncertain significance

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