FRMD4A[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	PROSER2-AS1, PRPF18 +680 more	Copy number loss	See cases	GPathogenic
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 150048	GRCh38/hg38 10p15.3-13(chr10:70478-13736564)x1	LOC130003277, LOC130003278 +520 more	Copy number loss	See cases	GPathogenic
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	AGAP4, AGAP9 +1221 more	Copy number gain	See cases	GBenign
Select item 58717	GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1	LOC130003217, LOC130003218 +482 more	Copy number loss	See cases	GPathogenic
Select item 148232	GRCh38/hg38 10p14-12.31(chr10:7428770-21587752)x1	ACBD7, ACBD7-DCLRE1CP1 +388 more	Copy number loss	See cases	GPathogenic
Select item 144993	GRCh38/hg38 10p13(chr10:12333253-13948472)x1	BEND7, BEND7-DT +69 more	Copy number loss	See cases	GLikely pathogenic
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 1175135	NM_018027.5(FRMD4A):c.*2+5C>T	FRMD4A, PRPF18	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 785306	NM_018027.5(FRMD4A):c.3065A>T (p.Asn1022Ile)	FRMD4A, PRPF18 (N1022I +3 more)	Single nucleotide variant (missense variant)	FRMD4A-related disorder +1 more	GBenign
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 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 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 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 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 728534	NM_018027.5(FRMD4A):c.2886C>T (p.Ser962=)	FRMD4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 930827	NM_018027.5(FRMD4A):c.2837C>T (p.Ser946Leu)	FRMD4A (S979L +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	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 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 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 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 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 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 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 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 779931	NM_018027.5(FRMD4A):c.2651GCG[6] (p.Gly888dup)	FRMD4A	Microsatellite (inframe_insertion)	FRMD4A-related disorder +2 more	GBenign/Likely benign
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 731653	NM_018027.5(FRMD4A):c.2661C>T (p.Gly887=)	FRMD4A	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 774892	NM_018027.5(FRMD4A):c.2429CGGGGGGCG[2] (p.810AGG[2])	FRMD4A	Microsatellite (inframe_deletion)	not provided	GBenign
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 3039216	NM_018027.5(FRMD4A):c.2436C>T (p.Gly812=)	FRMD4A	Single nucleotide variant (synonymous variant)	FRMD4A-related disorder	GLikely benign
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 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 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 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 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 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 735148	NM_018027.5(FRMD4A):c.2151G>A (p.Lys717=)	FRMD4A	Single nucleotide variant (synonymous variant)	FRMD4A-related disorder +1 more	GLikely benign
Select item 222035	NM_018027.5(FRMD4A):c.2134_2146dup (p.Gly716fs)	FRMD4A (G749fs +3 more)	Duplication (frameshift variant)	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia 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 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 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 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 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 3038740	NM_018027.5(FRMD4A):c.1986C>T (p.Leu662=)	FRMD4A	Single nucleotide variant (synonymous variant)	FRMD4A-related disorder	GLikely benign
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 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 711129	NM_018027.5(FRMD4A):c.1935G>A (p.Ala645=)	FRMD4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 727331	NM_018027.5(FRMD4A):c.1898+9C>T	FRMD4A, LOC130003382	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 787898	NM_018027.5(FRMD4A):c.1779G>A (p.Gln593=)	FRMD4A	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 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 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 813684	NM_018027.5(FRMD4A):c.1714C>T (p.Leu572Phe)	FRMD4A (L263F +3 more)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 709945	NM_018027.5(FRMD4A):c.1693C>T (p.Leu565=)	FRMD4A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 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 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 3057982	NM_018027.5(FRMD4A):c.1590G>A (p.Ser530=)	FRMD4A	Single nucleotide variant (synonymous variant)	FRMD4A-related disorder	GLikely benign
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 740950	NM_018027.5(FRMD4A):c.1552C>T (p.Arg518Cys)	FRMD4A (R209C +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 709946	NM_018027.5(FRMD4A):c.1528A>G (p.Ile510Val)	FRMD4A (I201V +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 2640319	NM_018027.5(FRMD4A):c.1428G>A (p.Thr476=)	FRMD4A	Single nucleotide variant (synonymous 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 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 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 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 813691	NM_018027.5(FRMD4A):c.1316G>A (p.Arg439Gln)	FRMD4A (R455Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 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 798005	NM_018027.5(FRMD4A):c.1134T>C (p.Asp378=)	FRMD4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 729172	NM_018027.5(FRMD4A):c.1089C>T (p.Ser363=)	FRMD4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 742442	NM_018027.5(FRMD4A):c.1080G>A (p.Lys360=)	FRMD4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 744816	NM_018027.5(FRMD4A):c.1038G>A (p.Thr346=)	FRMD4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 746283	NM_018027.5(FRMD4A):c.1026C>T (p.Thr342=)	FRMD4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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

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