"GeneDx"[submitter] AND "FAT4"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 145990	GRCh38/hg38 4q28.1-28.3(chr4:125118620-132773079)x1	ABHD18, C4orf33 +113 more	Copy number loss	See cases	GPathogenic
Select item 669952	NM_001291303.3(FAT4):c.-13+109A>G	FAT4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1006605	NM_001291303.3(FAT4):c.44C>G (p.Pro15Arg)	FAT4 (P15R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315396	NM_001291303.3(FAT4):c.115T>C (p.Trp39Arg)	FAT4 (W39R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 221921	NM_001291303.3(FAT4):c.131A>C (p.Glu44Ala)	FAT4 (E44A)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1706128	NM_001291303.3(FAT4):c.151G>C (p.Val51Leu)	FAT4 (V51L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 679813	NM_001291303.3(FAT4):c.185G>C (p.Gly62Ala)	FAT4 (G62A)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1421199	NM_001291303.3(FAT4):c.188C>T (p.Thr63Ile)	FAT4 (T63I)	Single nucleotide variant (missense variant)	FAT4-related disorder +1 more	GUncertain significance
Select item 3365693	NM_001291303.3(FAT4):c.271T>C (p.Tyr91His)	FAT4 (Y91H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1207797	NM_001291303.3(FAT4):c.283A>T (p.Thr95Ser)	FAT4 (T95S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1326019	NM_001291303.3(FAT4):c.286A>G (p.Ile96Val)	FAT4 (I96V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662011	NM_001291303.3(FAT4):c.367G>C (p.Val123Leu)	FAT4 (V123L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 380815	NM_001291303.3(FAT4):c.405C>T (p.Phe135=)	FAT4	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1037201	NM_001291303.3(FAT4):c.418A>G (p.Ile140Val)	FAT4 (I140V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575693	NM_001291303.3(FAT4):c.502G>C (p.Gly168Arg)	FAT4 (G168R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 391893	NM_001291303.3(FAT4):c.524G>T (p.Arg175Leu)	FAT4 (R175L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1304262	NM_001291303.3(FAT4):c.556C>T (p.Arg186Cys)	FAT4 (R186C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2574332	NM_001291303.3(FAT4):c.659T>C (p.Val220Ala)	FAT4 (V220A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 809679	NM_001291303.3(FAT4):c.739C>T (p.Pro247Ser)	FAT4 (P247S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 380918	NM_001291303.3(FAT4):c.739C>A (p.Pro247Thr)	FAT4 (P247T)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 1105289	NM_001291303.3(FAT4):c.829G>A (p.Ala277Thr)	FAT4 (A277T)	Single nucleotide variant (missense variant)	FAT4-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 516667	NM_001291303.3(FAT4):c.831G>A (p.Ala277=)	FAT4	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1199864	NM_001291303.3(FAT4):c.842C>T (p.Thr281Ile)	FAT4 (T281I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 1473540	NM_001291303.3(FAT4):c.929C>A (p.Pro310His)	FAT4 (P310H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 391002	NM_001291303.3(FAT4):c.960G>A (p.Ser320=)	FAT4	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3370946	NM_001291303.3(FAT4):c.965C>A (p.Thr322Lys)	FAT4 (T322K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371057	NM_001291303.3(FAT4):c.982A>G (p.Arg328Gly)	FAT4 (R328G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 993351	NM_001291303.3(FAT4):c.1099G>A (p.Val367Ile)	FAT4 (V367I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 384624	NM_001291303.3(FAT4):c.1101A>G (p.Val367=)	FAT4	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 388300	NM_001291303.3(FAT4):c.1128G>A (p.Val376=)	FAT4	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 373339	NM_001291303.3(FAT4):c.1163C>T (p.Pro388Leu)	FAT4 (P388L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 451794	NM_001291303.3(FAT4):c.1237A>G (p.Lys413Glu)	FAT4 (K413E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1215545	NM_001291303.3(FAT4):c.1289G>A (p.Arg430His)	FAT4 (R430H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 390595	NM_001291303.3(FAT4):c.1296T>C (p.Pro432=)	FAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 669336	NM_001291303.3(FAT4):c.1299C>G (p.Ser433=)	FAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 380812	NM_001291303.3(FAT4):c.1358A>T (p.Gln453Leu)	FAT4 (Q453L)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 2 +3 more	GBenign
Select item 2200978	NM_001291303.3(FAT4):c.1378A>G (p.Ser460Gly)	FAT4 (S460G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1802118	NM_001291303.3(FAT4):c.1462G>A (p.Ala488Thr)	FAT4 (A488T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1307666	NM_001291303.3(FAT4):c.1525A>C (p.Asn509His)	FAT4 (N509H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 391916	NM_001291303.3(FAT4):c.1698C>T (p.Ala566=)	FAT4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1878791	NM_001291303.3(FAT4):c.1796G>A (p.Gly599Glu)	FAT4 (G599E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1005373	NM_001291303.3(FAT4):c.1827C>A (p.Asp609Glu)	FAT4 (D609E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 708713	NM_001291303.3(FAT4):c.1855C>T (p.Arg619Cys)	FAT4 (R619C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1803437	NM_001291303.3(FAT4):c.1903G>A (p.Asp635Asn)	FAT4 (D635N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1518031	NM_001291303.3(FAT4):c.1903G>T (p.Asp635Tyr)	FAT4 (D635Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 515429	NM_001291303.3(FAT4):c.1959C>T (p.Ala653=)	FAT4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1198187	NM_001291303.3(FAT4):c.2057G>A (p.Ser686Asn)	FAT4 (S686N)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1212808	NM_001291303.3(FAT4):c.2158A>G (p.Thr720Ala)	FAT4 (T720A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1200220	NM_001291303.3(FAT4):c.2216A>T (p.Asn739Ile)	FAT4 (N739I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1165991	NM_001291303.3(FAT4):c.2216A>G (p.Asn739Ser)	FAT4 (N739S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1214983	NM_001291303.3(FAT4):c.2273C>T (p.Ala758Val)	FAT4 (A758V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1394938	NM_001291303.3(FAT4):c.2287A>G (p.Ile763Val)	FAT4 (I763V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 506698	NM_001291303.3(FAT4):c.2316A>G (p.Gln772=)	FAT4	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 680457	NM_001291303.3(FAT4):c.2322C>T (p.Pro774=)	FAT4	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1712536	NM_001291303.3(FAT4):c.2338A>T (p.Thr780Ser)	FAT4 (T780S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 380329	NM_001291303.3(FAT4):c.2420C>T (p.Ala807Val)	FAT4 (A807V)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 419544	NM_001291303.3(FAT4):c.2527C>T (p.Gln843Ter)	FAT4 (Q843*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 419204	NM_001291303.3(FAT4):c.2705TGG[1] (p.Val903del)	FAT4 (V903del)	Microsatellite (inframe_deletion)	not provided	GConflicting classifications of pathogenicity
Select item 388443	NM_001291303.3(FAT4):c.2811G>T (p.Lys937Asn)	FAT4 (K937N)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2430559	NM_001291303.3(FAT4):c.2827A>C (p.Asn943His)	FAT4 (N943H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 432238	NM_001291303.3(FAT4):c.2896A>G (p.Ile966Val)	FAT4 (I966V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1189677	NM_001291303.3(FAT4):c.2903C>T (p.Ala968Val)	FAT4 (A968V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 945556	NM_001291303.3(FAT4):c.2917G>A (p.Val973Ile)	FAT4 (V973I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 670933	NM_001291303.3(FAT4):c.2919C>T (p.Val973=)	FAT4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 380793	NM_001291303.3(FAT4):c.2944T>C (p.Leu982=)	FAT4	Single nucleotide variant (synonymous variant)	Hennekam lymphangiectasia-lymphedema syndrome 2 +3 more	GBenign
Select item 2502087	NM_001291303.3(FAT4):c.2989G>C (p.Asp997His)	FAT4 (D997H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313475	NM_001291303.3(FAT4):c.3041G>A (p.Arg1014Gln)	FAT4 (R1014Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1446536	NM_001291303.3(FAT4):c.3059C>T (p.Ala1020Val)	FAT4 (A1020V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 450113	NM_001291303.3(FAT4):c.3065A>G (p.Asp1022Gly)	FAT4 (D1022G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 385897	NM_001291303.3(FAT4):c.3096A>G (p.Ala1032=)	FAT4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 708812	NM_001291303.3(FAT4):c.3192C>T (p.Asp1064=)	FAT4	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 509829	NM_001291303.3(FAT4):c.3294T>A (p.Pro1098=)	FAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 373650	NM_001291303.3(FAT4):c.3328G>A (p.Glu1110Lys)	FAT4 (E1110K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 514585	NM_001291303.3(FAT4):c.3351G>A (p.Ser1117=)	FAT4	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 385548	NM_001291303.3(FAT4):c.3402A>T (p.Glu1134Asp)	FAT4 (E1134D)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 386167	NM_001291303.3(FAT4):c.3417T>C (p.Phe1139=)	FAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 449266	NM_001291303.3(FAT4):c.3424G>A (p.Val1142Met)	FAT4 (V1142M)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1636314	NM_001291303.3(FAT4):c.3515C>T (p.Thr1172Ile)	FAT4 (T1172I)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3252909	NM_001291303.3(FAT4):c.3544A>G (p.Thr1182Ala)	FAT4 (T1182A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 748114	NM_001291303.3(FAT4):c.3658T>A (p.Ser1220Thr)	FAT4 (S1220T)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 373174	NM_001291303.3(FAT4):c.3682C>G (p.Gln1228Glu)	FAT4 (Q1228E)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 380818	NM_001291303.3(FAT4):c.3687G>C (p.Val1229=)	FAT4	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 384880	NM_001291303.3(FAT4):c.3768A>G (p.Arg1256=)	FAT4	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 380882	NM_001291303.3(FAT4):c.3769C>G (p.Gln1257Glu)	FAT4 (Q1257E)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 2504507	NM_001291303.3(FAT4):c.3859G>A (p.Ala1287Thr)	FAT4 (A1287T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304650	NM_001291303.3(FAT4):c.3937C>T (p.Pro1313Ser)	FAT4 (P1313S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1496370	NM_001291303.3(FAT4):c.4081G>A (p.Gly1361Arg)	FAT4 (G1361R)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 2 +3 more	GUncertain significance
Select item 2446090	NM_001291303.3(FAT4):c.4114A>G (p.Ile1372Val)	FAT4 (I1372V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 384625	NM_001291303.3(FAT4):c.4154T>C (p.Leu1385Ser)	FAT4 (L1385S)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 1009702	NM_001291303.3(FAT4):c.4169T>C (p.Ile1390Thr)	FAT4 (I1390T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314680	NM_001291303.3(FAT4):c.4199G>A (p.Arg1400His)	FAT4 (R1400H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 386758	NM_001291303.3(FAT4):c.4219G>A (p.Val1407Ile)	FAT4 (V1407I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1307026	NM_001291303.3(FAT4):c.4228G>A (p.Val1410Met)	FAT4 (V1410M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 424436	NM_001291303.3(FAT4):c.4250C>A (p.Pro1417His)	FAT4 (P1417H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 452815	NM_001291303.3(FAT4):c.4257C>G (p.Ser1419Arg)	FAT4 (S1419R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307473	NM_001291303.3(FAT4):c.4273A>G (p.Ile1425Val)	FAT4 (I1425V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 377854	NM_001291303.3(FAT4):c.4303A>G (p.Ile1435Val)	FAT4 (I1435V)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 377855	NM_001291303.3(FAT4):c.4305C>T (p.Ile1435=)	FAT4	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1312817	NM_001291303.3(FAT4):c.4417G>A (p.Glu1473Lys)	FAT4 (E1473K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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