ClinVar for Gene (Select 55691) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3337128	NM_018027.5(FRMD4A):c.1195G>A (p.Glu399Lys)	FRMD4A (E399K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3336315	NM_018027.5(FRMD4A):c.2067-17G>A	FRMD4A	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3336077	NM_018027.5(FRMD4A):c.1117+21_1117+22insT	FRMD4A	Insertion (intron variant)	not specified	GBenign
Select item 3279869	NM_018027.5(FRMD4A):c.652G>A (p.Val218Ile)	FRMD4A (V218I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279868	NM_018027.5(FRMD4A):c.1309A>T (p.Ile437Phe)	FRMD4A (I437F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279867	NM_018027.5(FRMD4A):c.1933G>A (p.Ala645Thr)	FRMD4A (A336T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279866	NM_018027.5(FRMD4A):c.2071G>A (p.Val691Met)	FRMD4A (V724M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279865	NM_018027.5(FRMD4A):c.1309A>G (p.Ile437Val)	FRMD4A (I128V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220924	NM_018027.5(FRMD4A):c.3078delinsCATTCT (p.Asp1027fs)	FRMD4A, PRPF18 (D1027fs +3 more)	Indel (frameshift variant)	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome	GLikely pathogenic
Select item 3096917	NM_018027.5(FRMD4A):c.871G>A (p.Gly291Ser)	FRMD4A (G291S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096916	NM_018027.5(FRMD4A):c.803A>G (p.Lys268Arg)	FRMD4A (K284R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096915	NM_018027.5(FRMD4A):c.62G>A (p.Arg21Gln)	FRMD4A (R21Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096914	NM_018027.5(FRMD4A):c.2999T>C (p.Ile1000Thr)	FRMD4A, PRPF18 (I1016T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096913	NM_018027.5(FRMD4A):c.2956G>A (p.Ala986Thr)	FRMD4A, PRPF18 (A1002T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096912	NM_018027.5(FRMD4A):c.2862C>A (p.Asp954Glu)	FRMD4A (D970E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096911	NM_018027.5(FRMD4A):c.2860G>C (p.Asp954His)	FRMD4A (D970H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096910	NM_018027.5(FRMD4A):c.2699G>A (p.Arg900Gln)	FRMD4A (R916Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096909	NM_018027.5(FRMD4A):c.2693C>T (p.Pro898Leu)	FRMD4A (P914L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096908	NM_018027.5(FRMD4A):c.2684G>A (p.Arg895His)	FRMD4A (R586H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096907	NM_018027.5(FRMD4A):c.2676C>G (p.Asp892Glu)	FRMD4A (D583E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096906	NM_018027.5(FRMD4A):c.2675A>T (p.Asp892Val)	FRMD4A (D583V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096905	NM_018027.5(FRMD4A):c.2646C>G (p.Ser882Arg)	FRMD4A (S882R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096904	NM_018027.5(FRMD4A):c.2643G>C (p.Glu881Asp)	FRMD4A (E572D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096903	NM_018027.5(FRMD4A):c.2627G>A (p.Gly876Asp)	FRMD4A (G567D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096901	NM_018027.5(FRMD4A):c.2434G>A (p.Gly812Ser)	FRMD4A (G503S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096900	NM_018027.5(FRMD4A):c.2369C>T (p.Ala790Val)	FRMD4A (A823V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096899	NM_018027.5(FRMD4A):c.2180G>T (p.Ser727Ile)	FRMD4A (S418I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096898	NM_018027.5(FRMD4A):c.2032C>G (p.Arg678Gly)	FRMD4A (R678G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096897	NM_018027.5(FRMD4A):c.1979G>T (p.Arg660Leu)	FRMD4A (R351L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096896	NM_018027.5(FRMD4A):c.1880C>T (p.Ser627Phe)	FRMD4A (S318F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096894	NM_018027.5(FRMD4A):c.1597A>G (p.Ile533Val)	FRMD4A (I549V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096893	NM_018027.5(FRMD4A):c.1327G>A (p.Gly443Arg)	FRMD4A (G459R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096892	NM_018027.5(FRMD4A):c.1244G>A (p.Arg415Gln)	FRMD4A (R415Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096891	NM_018027.5(FRMD4A):c.1037C>T (p.Thr346Met)	FRMD4A (T379M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065717	NM_018027.5(FRMD4A):c.110A>G (p.Gln37Arg)	FRMD4A (Q37R +2 more)	Single nucleotide variant (missense variant)	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome	GLikely pathogenic
Select item 3063130	GRCh37/hg19 10p13(chr10:13354180-14394498)x1	BEND7, FRMD4A +2 more	Copy number loss	not specified	GUncertain significance
Select item 3058066	NM_018027.5(FRMD4A):c.46-149138G>A	FRMD4A	Single nucleotide variant (intron variant)	FRMD4A-related disorder	GLikely benign
Select item 3057982	NM_018027.5(FRMD4A):c.1590G>A (p.Ser530=)	FRMD4A	Single nucleotide variant (synonymous variant)	FRMD4A-related disorder	GLikely benign
Select item 3057736	NM_018027.5(FRMD4A):c.*2+6G>A	FRMD4A, PRPF18	Single nucleotide variant (intron variant)	FRMD4A-related disorder	GLikely benign
Select item 3053224	NM_018027.5(FRMD4A):c.976-4C>G	FRMD4A	Single nucleotide variant (intron variant)	FRMD4A-related disorder	GLikely benign
Select item 3051971	NM_018027.5(FRMD4A):c.442-10dup	FRMD4A	Duplication (intron variant)	FRMD4A-related disorder	GLikely benign
Select item 3048052	NM_018027.5(FRMD4A):c.1689C>T (p.Ser563=)	FRMD4A	Single nucleotide variant (synonymous variant)	FRMD4A-related disorder	GLikely benign
Select item 3039928	NM_018027.5(FRMD4A):c.1284C>T (p.Pro428=)	FRMD4A	Single nucleotide variant (synonymous variant)	FRMD4A-related disorder	GLikely benign
Select item 3039216	NM_018027.5(FRMD4A):c.2436C>T (p.Gly812=)	FRMD4A	Single nucleotide variant (synonymous variant)	FRMD4A-related disorder	GLikely benign
Select item 3038740	NM_018027.5(FRMD4A):c.1986C>T (p.Leu662=)	FRMD4A	Single nucleotide variant (synonymous variant)	FRMD4A-related disorder	GLikely benign
Select item 2640322	NM_018027.5(FRMD4A):c.37C>T (p.Leu13=)	FRMD4A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2640321	NM_018027.5(FRMD4A):c.45+3177del	FRMD4A	Deletion (intron variant)	not provided	GLikely benign
Select item 2640320	NM_018027.5(FRMD4A):c.174G>A (p.Lys58=)	FRMD4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640319	NM_018027.5(FRMD4A):c.1428G>A (p.Thr476=)	FRMD4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640318	NM_018027.5(FRMD4A):c.2723C>T (p.Ser908Leu)	FRMD4A (S599L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2618716	NM_018027.5(FRMD4A):c.2882C>T (p.Thr961Ile)	FRMD4A (T994I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597646	NM_018027.5(FRMD4A):c.1553G>A (p.Arg518His)	FRMD4A (R209H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592682	NM_018027.5(FRMD4A):c.1000C>A (p.Leu334Met)	FRMD4A (L25M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591661	NM_018027.5(FRMD4A):c.1186G>A (p.Glu396Lys)	FRMD4A (E396K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2577127	NC_000010.10:g.(?_13685705)_(13696513_13698635)dup	FRMD4A	Duplication	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2557020	NM_018027.5(FRMD4A):c.2054T>G (p.Val685Gly)	FRMD4A (V376G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556158	NM_018027.5(FRMD4A):c.2984C>T (p.Thr995Ile)	FRMD4A, PRPF18 (T1011I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551038	NM_018027.5(FRMD4A):c.1441C>T (p.Arg481Cys)	FRMD4A (R497C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546337	NM_018027.5(FRMD4A):c.926C>T (p.Ala309Val)	FRMD4A (A325V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543401	NM_018027.5(FRMD4A):c.1808A>C (p.Lys603Thr)	FRMD4A (K619T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532286	NM_018027.5(FRMD4A):c.1325T>C (p.Ile442Thr)	FRMD4A (I458T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516327	NM_018027.5(FRMD4A):c.1723C>T (p.Arg575Trp)	FRMD4A (R266W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495020	NM_018027.5(FRMD4A):c.2801G>T (p.Arg934Leu)	FRMD4A (R625L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485527	NM_018027.5(FRMD4A):c.2948C>T (p.Thr983Met)	FRMD4A (T674M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470630	NM_018027.5(FRMD4A):c.2750A>T (p.Lys917Met)	FRMD4A (K933M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469092	NM_018027.5(FRMD4A):c.1651C>T (p.Leu551Phe)	FRMD4A (L242F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467531	NM_018027.5(FRMD4A):c.3013C>T (p.Pro1005Ser)	FRMD4A, PRPF18 (P1005S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460493	NM_018027.5(FRMD4A):c.2683C>T (p.Arg895Cys)	FRMD4A (R928C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460356	NM_018027.5(FRMD4A):c.2444G>A (p.Gly815Asp)	FRMD4A (G831D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459843	NM_018027.5(FRMD4A):c.1438C>T (p.Arg480Cys)	FRMD4A (R513C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399717	NM_018027.5(FRMD4A):c.2336C>A (p.Ala779Glu)	FRMD4A (A779E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375044	NM_018027.5(FRMD4A):c.2879G>A (p.Ser960Asn)	FRMD4A (S651N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374455	NM_018027.5(FRMD4A):c.2537C>T (p.Thr846Met)	FRMD4A (T862M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357833	NM_018027.5(FRMD4A):c.2015C>T (p.Pro672Leu)	FRMD4A (P363L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348788	NM_018027.5(FRMD4A):c.1715T>G (p.Leu572Arg)	FRMD4A (L572R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347854	NM_018027.5(FRMD4A):c.2662G>A (p.Gly888Ser)	FRMD4A (G888S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339137	NM_018027.5(FRMD4A):c.1965G>C (p.Gln655His)	FRMD4A (Q346H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329590	NM_018027.5(FRMD4A):c.1730C>A (p.Pro577Gln)	FRMD4A (P268Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322140	NM_018027.5(FRMD4A):c.1544A>G (p.Asn515Ser)	FRMD4A (N515S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316385	NM_018027.5(FRMD4A):c.2875T>G (p.Tyr959Asp)	FRMD4A (Y959D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314294	NM_018027.5(FRMD4A):c.2870C>T (p.Ser957Leu)	FRMD4A (S648L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310483	NM_018027.5(FRMD4A):c.1721C>T (p.Pro574Leu)	FRMD4A (P607L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292441	NM_018027.5(FRMD4A):c.2681G>T (p.Gly894Val)	FRMD4A (G910V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282981	NM_018027.5(FRMD4A):c.88A>T (p.Arg30Trp)	FRMD4A (R30W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280354	NM_018027.5(FRMD4A):c.1208G>A (p.Arg403His)	FRMD4A (R403H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280046	NM_018027.5(FRMD4A):c.2671G>A (p.Gly891Ser)	FRMD4A (G891S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264671	NM_018027.5(FRMD4A):c.2039G>T (p.Arg680Leu)	FRMD4A (R696L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254020	NM_018027.5(FRMD4A):c.2170G>A (p.Asp724Asn)	FRMD4A (D415N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252252	NM_018027.5(FRMD4A):c.1331C>T (p.Thr444Ile)	FRMD4A (T460I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247540	NM_018027.5(FRMD4A):c.2422G>A (p.Gly808Arg)	FRMD4A (G841R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217025	NM_018027.5(FRMD4A):c.1992C>G (p.His664Gln)	FRMD4A (H355Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209554	NM_018027.5(FRMD4A):c.228G>C (p.Gln76His)	FRMD4A (Q109H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527577	GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521)	ABI1, ACBD5 +111 more	Copy number gain	not specified	GPathogenic
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ARL5B, LARP4B +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 1285283	NM_018027.5(FRMD4A):c.207-16T>C	FRMD4A	Single nucleotide variant (intron variant)	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome	GBenign
Select item 1175135	NM_018027.5(FRMD4A):c.*2+5C>T	FRMD4A, PRPF18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1174844	NM_018027.5(FRMD4A):c.1391G>A (p.Arg464His)	FRMD4A (R155H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1047870	GRCh37/hg19 10p14-13(chr10:9137489-17227168)	ACBD7, BEND7 +36 more	Copy number loss	Neurodevelopmental delay	GPathogenic

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