ClinVar for MedGen (Select 462055) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064036	GRCh37/hg19 14q12(chr14:28688830-30017377)x1	FOXG1	Copy number loss	Rett syndrome, congenital variant	Gnot provided
Select item 3024521	NM_005249.5(FOXG1):c.643T>A (p.Phe215Ile)	FOXG1 (F196I +1 more)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GLikely pathogenic
Select item 3024268	NM_005249.5(FOXG1):c.765G>C (p.Trp255Cys)	FOXG1 (W236C +1 more)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GPathogenic
Select item 3022706	NM_005249.5(FOXG1):c.1065C>T (p.Ser355=)	FOXG1	Single nucleotide variant (synonymous variant)	Rett syndrome, congenital variant	GLikely benign
Select item 3020514	NM_005249.5(FOXG1):c.1143C>T (p.Ala381=)	FOXG1	Single nucleotide variant (synonymous variant)	Rett syndrome, congenital variant	GLikely benign
Select item 3015741	NM_005249.5(FOXG1):c.454G>T (p.Gly152Trp)	FOXG1 (G152W +1 more)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GBenign
Select item 3015649	NM_005249.5(FOXG1):c.415C>T (p.Pro139Ser)	FOXG1 (P121S +1 more)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GUncertain significance
Select item 3010906	NM_005249.5(FOXG1):c.128A>G (p.His43Arg)	FOXG1 (H43R)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GUncertain significance
Select item 3009887	NM_005249.5(FOXG1):c.1443G>A (p.Gly481=)	FOXG1	Single nucleotide variant (synonymous variant)	Rett syndrome, congenital variant	GUncertain significance
Select item 3005063	NM_005249.5(FOXG1):c.1081G>A (p.Gly361Ser)	FOXG1 (G340R +1 more)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GLikely benign
Select item 3003467	NM_005249.5(FOXG1):c.209AGC[6] (p.Gln73_Pro74insGlnGln)	FOXG1	Microsatellite (inframe_indel +1 more)	Rett syndrome, congenital variant	GLikely benign
Select item 2996342	NM_005249.5(FOXG1):c.1374C>T (p.Pro458=)	FOXG1	Single nucleotide variant (synonymous variant)	Rett syndrome, congenital variant	GLikely benign
Select item 2983342	NM_005249.5(FOXG1):c.354G>C (p.Gly118=)	FOXG1	Single nucleotide variant (synonymous variant)	Rett syndrome, congenital variant	GLikely benign
Select item 2982882	NM_005249.5(FOXG1):c.27G>A (p.Glu9=)	FOXG1	Single nucleotide variant (synonymous variant)	Rett syndrome, congenital variant	GUncertain significance
Select item 2971785	NM_005249.5(FOXG1):c.209_226del (p.Gln70_Pro75del)	FOXG1	Deletion (inframe_indel +1 more)	Rett syndrome, congenital variant	GLikely benign
Select item 2963929	NM_005249.5(FOXG1):c.173C>A (p.Pro58Gln)	FOXG1 (P58Q)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GUncertain significance
Select item 2958050	NM_005249.5(FOXG1):c.1297T>A (p.Ser433Thr)	FOXG1 (S412T +1 more)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GUncertain significance
Select item 2954649	NM_005249.5(FOXG1):c.21G>A (p.Arg7=)	FOXG1	Single nucleotide variant (synonymous variant)	Rett syndrome, congenital variant	GUncertain significance
Select item 2914161	NM_005249.5(FOXG1):c.907G>T (p.Ala303Ser)	FOXG1 (A303S)	Single nucleotide variant (synonymous variant +1 more)	Rett syndrome, congenital variant	GUncertain significance
Select item 2908880	NM_005249.5(FOXG1):c.543G>A (p.Lys181=)	FOXG1	Single nucleotide variant (synonymous variant)	Rett syndrome, congenital variant	GLikely benign
Select item 2898950	NM_005249.5(FOXG1):c.411G>A (p.Leu137=)	FOXG1 (C120Y)	Single nucleotide variant (missense variant +1 more)	Rett syndrome, congenital variant	GLikely benign
Select item 2898329	NM_005249.5(FOXG1):c.1332G>T (p.Ser444=)	FOXG1	Single nucleotide variant (synonymous variant)	Rett syndrome, congenital variant	GLikely benign
Select item 2890393	NM_005249.5(FOXG1):c.783C>T (p.Ser261=)	FOXG1	Single nucleotide variant (synonymous variant)	Rett syndrome, congenital variant	GLikely benign
Select item 2889679	NM_005249.5(FOXG1):c.1084C>T (p.Leu362=)	FOXG1	Single nucleotide variant (synonymous variant)	Rett syndrome, congenital variant	GLikely benign
Select item 2879362	NM_005249.5(FOXG1):c.183_203dup (p.Pro68_Pro69insAlaProGlnProProProPro)	FOXG1	Duplication (inframe_indel +1 more)	Rett syndrome, congenital variant	GUncertain significance
Select item 2878727	NM_005249.5(FOXG1):c.350A>G (p.Asp117Gly)	FOXG1 (D117G)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GUncertain significance
Select item 2876479	NM_005249.5(FOXG1):c.239del (p.Pro80fs)	FOXG1 (P80fs)	Deletion (frameshift variant)	Rett syndrome, congenital variant	GPathogenic
Select item 2869841	NM_005249.5(FOXG1):c.717C>T (p.Phe239=)	FOXG1	Single nucleotide variant (synonymous variant)	Rett syndrome, congenital variant	GLikely benign
Select item 2861051	NM_005249.5(FOXG1):c.673T>G (p.Trp225Gly)	FOXG1 (W206G +1 more)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GLikely pathogenic
Select item 2855581	NM_005249.5(FOXG1):c.1221C>T (p.Val407=)	FOXG1	Single nucleotide variant (synonymous variant)	Rett syndrome, congenital variant	GBenign
Select item 2837204	NM_005249.5(FOXG1):c.1414T>A (p.Ser472Thr)	FOXG1 (S472T +1 more)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GUncertain significance
Select item 2835062	NM_005249.5(FOXG1):c.597G>A (p.Glu199=)	FOXG1	Single nucleotide variant (synonymous variant)	Rett syndrome, congenital variant	GUncertain significance
Select item 2834592	NM_005249.5(FOXG1):c.329C>A (p.Pro110Gln)	FOXG1 (P110Q)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GBenign
Select item 2832871	NM_005249.5(FOXG1):c.995del (p.Ser332fs)	FOXG1 (S332fs)	Deletion (frameshift variant)	Rett syndrome, congenital variant	GPathogenic
Select item 2831557	NM_005249.5(FOXG1):c.1351C>T (p.Leu451=)	FOXG1	Single nucleotide variant (synonymous variant)	Rett syndrome, congenital variant	GUncertain significance
Select item 2828791	NM_005249.5(FOXG1):c.310C>G (p.Leu104Val)	FOXG1 (L104V)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GBenign
Select item 2828503	NM_005249.5(FOXG1):c.594del (p.Glu199fs)	FOXG1 (E199fs)	Deletion (frameshift variant)	Rett syndrome, congenital variant	GPathogenic
Select item 2818773	NM_005249.5(FOXG1):c.799GGC[1] (p.Gly268del)	FOXG1 (G268del +1 more)	Microsatellite (inframe_indel +1 more)	Rett syndrome, congenital variant	GUncertain significance
Select item 2818420	NM_005249.5(FOXG1):c.230del (p.Pro77fs)	FOXG1 (P77fs)	Deletion (frameshift variant)	Rett syndrome, congenital variant	GPathogenic
Select item 2816954	NM_005249.5(FOXG1):c.433_435del (p.Lys145del)	FOXG1 (K127del +1 more)	Deletion (inframe_indel +1 more)	Rett syndrome, congenital variant	GLikely benign
Select item 2810751	NM_005249.5(FOXG1):c.1244_1245del (p.Ser415fs)	FOXG1 (S415fs)	Deletion (frameshift variant)	Rett syndrome, congenital variant	GPathogenic
Select item 2808238	NM_005249.5(FOXG1):c.1037del (p.Thr346fs)	FOXG1 (T346fs)	Deletion (frameshift variant)	Rett syndrome, congenital variant	GPathogenic
Select item 2805773	NM_005249.5(FOXG1):c.498G>A (p.Gly166=)	FOXG1	Single nucleotide variant (synonymous variant)	Rett syndrome, congenital variant	GUncertain significance
Select item 2793976	NM_005249.5(FOXG1):c.606C>T (p.Leu202=)	FOXG1	Single nucleotide variant (synonymous variant)	Rett syndrome, congenital variant	GUncertain significance
Select item 2793942	NM_005249.5(FOXG1):c.46T>C (p.Ser16Pro)	FOXG1 (S16P)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GUncertain significance
Select item 2793562	NM_005249.5(FOXG1):c.1288A>G (p.Ser430Gly)	FOXG1 (S430G +1 more)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GUncertain significance
Select item 2792127	NM_005249.5(FOXG1):c.283G>A (p.Asp95Asn)	FOXG1 (D95N)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GUncertain significance
Select item 2783691	NM_005249.5(FOXG1):c.153C>T (p.His51=)	FOXG1	Single nucleotide variant (synonymous variant)	Rett syndrome, congenital variant	GLikely benign
Select item 2777943	NM_005249.5(FOXG1):c.681C>T (p.Asn227=)	FOXG1	Single nucleotide variant (synonymous variant)	Rett syndrome, congenital variant	GUncertain significance
Select item 2777710	NM_005249.5(FOXG1):c.885C>T (p.Thr295=)	FOXG1	Single nucleotide variant (synonymous variant)	Rett syndrome, congenital variant	GLikely benign
Select item 2766374	NM_005249.5(FOXG1):c.876C>G (p.Leu292=)	FOXG1	Single nucleotide variant (synonymous variant)	Rett syndrome, congenital variant	GUncertain significance
Select item 2766002	NM_005249.5(FOXG1):c.24_26del (p.Glu9del)	FOXG1 (E9del)	Deletion (inframe_indel +1 more)	Rett syndrome, congenital variant	GUncertain significance
Select item 2764418	NM_005249.5(FOXG1):c.459_460del (p.Glu154fs)	FOXG1 (E154fs)	Deletion (frameshift variant)	Rett syndrome, congenital variant	GPathogenic
Select item 2757467	NM_005249.5(FOXG1):c.977G>C (p.Ser326Thr)	FOXG1 (S326T +1 more)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GUncertain significance
Select item 2757001	NM_005249.5(FOXG1):c.424C>G (p.Pro142Ala)	FOXG1 (P124A +1 more)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GUncertain significance
Select item 2756325	NM_005249.5(FOXG1):c.1458T>G (p.Pro486=)	FOXG1	Single nucleotide variant (synonymous variant)	Rett syndrome, congenital variant	GUncertain significance
Select item 2756302	NM_005249.5(FOXG1):c.1412_1427del (p.Leu471fs)	FOXG1 (L471fs)	Deletion (frameshift variant)	Rett syndrome, congenital variant	GPathogenic
Select item 2749292	NM_005249.5(FOXG1):c.1359_1360del (p.Cys453_Glu454delinsTer)	FOXG1	Microsatellite (frameshift variant +1 more)	Rett syndrome, congenital variant	GPathogenic
Select item 2748916	NM_005249.5(FOXG1):c.204G>T (p.Pro68=)	FOXG1	Single nucleotide variant (synonymous variant)	Rett syndrome, congenital variant	GUncertain significance
Select item 2747867	NM_005249.5(FOXG1):c.413del (p.Ala138fs)	FOXG1 (A138fs)	Deletion (frameshift variant)	Rett syndrome, congenital variant	GPathogenic
Select item 2746923	NM_005249.5(FOXG1):c.1434A>G (p.Gln478=)	FOXG1	Single nucleotide variant (synonymous variant)	Rett syndrome, congenital variant	GUncertain significance
Select item 2746593	NM_005249.5(FOXG1):c.197C>T (p.Pro66Leu)	FOXG1 (P66L)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GUncertain significance
Select item 2745482	NM_005249.5(FOXG1):c.480C>T (p.Gly160=)	FOXG1	Single nucleotide variant (synonymous variant)	Rett syndrome, congenital variant	GUncertain significance
Select item 2743873	NM_005249.5(FOXG1):c.869C>T (p.Ala290Val)	FOXG1 (A290V +1 more)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GUncertain significance
Select item 2737756	NM_005249.5(FOXG1):c.263G>C (p.Arg88Pro)	FOXG1 (R88P)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GBenign
Select item 2737007	NM_005249.5(FOXG1):c.1255_1274dup (p.Met426fs)	FOXG1 (M426fs)	Duplication (frameshift variant)	Rett syndrome, congenital variant	GPathogenic
Select item 2736363	NM_005249.5(FOXG1):c.453C>G (p.Ala151=)	FOXG1	Single nucleotide variant (synonymous variant)	Rett syndrome, congenital variant	GBenign
Select item 2736105	NM_005249.5(FOXG1):c.981C>A (p.Tyr327Ter)	FOXG1 (Y306* +1 more)	Single nucleotide variant (nonsense)	Rett syndrome, congenital variant	GPathogenic
Select item 2735881	NM_005249.5(FOXG1):c.1098G>T (p.Arg366=)	FOXG1	Single nucleotide variant (synonymous variant)	Rett syndrome, congenital variant	GLikely benign
Select item 2732426	NM_005249.5(FOXG1):c.991A>G (p.Thr331Ala)	FOXG1 (T310A +1 more)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GBenign
Select item 2719583	NM_005249.5(FOXG1):c.1223A>G (p.Asn408Ser)	FOXG1 (N408S +1 more)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GUncertain significance
Select item 2718082	NM_005249.5(FOXG1):c.328_336dup (p.Pro112_Ala113insProProPro)	FOXG1	Duplication (inframe_insertion)	Rett syndrome, congenital variant	GLikely benign
Select item 2713048	NM_005249.5(FOXG1):c.352G>A (p.Gly118Arg)	FOXG1 (G118R)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GUncertain significance
Select item 2707589	NM_005249.5(FOXG1):c.864C>A (p.Arg288=)	FOXG1	Single nucleotide variant (synonymous variant)	Rett syndrome, congenital variant	GUncertain significance
Select item 2704746	NM_005249.5(FOXG1):c.1074del (p.Ala359fs)	FOXG1 (A359fs)	Deletion (frameshift variant)	Rett syndrome, congenital variant	GPathogenic
Select item 2700665	NM_005249.5(FOXG1):c.412G>A (p.Ala138Thr)	FOXG1 (A138T)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GUncertain significance
Select item 2691891	NM_005249.5(FOXG1):c.683C>G (p.Ser228Cys)	FOXG1 (S209C +1 more)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GLikely pathogenic
Select item 2627984	NM_005249.5(FOXG1):c.803del (p.Gly268fs)	FOXG1 (G268fs)	Deletion (frameshift variant)	Rett syndrome, congenital variant	GLikely pathogenic
Select item 2627466	NM_005249.5(FOXG1):c.847A>T (p.Lys283Ter)	FOXG1 (K263* +1 more)	Single nucleotide variant (nonsense)	Rett syndrome, congenital variant	GLikely pathogenic
Select item 2626916	NM_005249.5(FOXG1):c.676C>G (p.Gln226Glu)	FOXG1 (Q207E +1 more)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GPathogenic
Select item 2618847	NM_005249.5(FOXG1):c.1337A>T (p.Gln446Leu)	FOXG1 (Q446L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2584993	NM_005249.5(FOXG1):c.142C>T (p.His48Tyr)	FOXG1 (H48Y)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GUncertain significance
Select item 2584379	NM_005249.5(FOXG1):c.800G>A (p.Gly267Asp)	FOXG1 (G248D +1 more)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GLikely pathogenic
Select item 2583120	NM_005249.5(FOXG1):c.314_335del (p.Pro105fs)	FOXG1 (P105fs)	Deletion (frameshift variant)	Rett syndrome, congenital variant	GPathogenic
Select item 2582594	NM_005249.5(FOXG1):c.500_501insC (p.Glu167fs)	FOXG1 (E167fs)	Insertion (frameshift variant)	Rett syndrome, congenital variant	GPathogenic
Select item 2579199	GRCh38/hg38 14q12(chr14:28766690-29666306)x1	FOXG1, LINC01551 +12 more	Copy number loss	Rett syndrome, congenital variant	GPathogenic
Select item 2492678	NM_005249.5(FOXG1):c.310C>T (p.Leu104Phe)	FOXG1 (L104F)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant +1 more	GUncertain significance
Select item 2446398	NM_005249.5(FOXG1):c.339del (p.Ala114fs)	FOXG1 (A114fs)	Deletion (frameshift variant)	Rett syndrome, congenital variant	GLikely pathogenic
Select item 2446393	NM_005249.5(FOXG1):c.609_613dup (p.Asn205fs)	FOXG1 (N205fs)	Duplication (frameshift variant)	Rett syndrome, congenital variant	GLikely pathogenic
Select item 2443586	NM_005249.5(FOXG1):c.748G>A (p.Gly250Ser)	FOXG1 (G231S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2441542	NM_005249.5(FOXG1):c.502G>A (p.Gly168Arg)	FOXG1 (G149R +1 more)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GUncertain significance
Select item 2436252	NM_005249.5(FOXG1):c.725_731dup (p.His245fs)	FOXG1 (H245fs)	Duplication (frameshift variant)	Rett syndrome, congenital variant	GPathogenic
Select item 2429880	NM_005249.5(FOXG1):c.578C>T (p.Ala193Val)	FOXG1 (A174V +1 more)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GLikely pathogenic
Select item 2418381	NM_005249.5(FOXG1):c.849G>A (p.Lys283=)	FOXG1	Single nucleotide variant (synonymous variant)	Rett syndrome, congenital variant	GLikely benign
Select item 2418090	NM_005249.5(FOXG1):c.192_218del (p.Gln70_Pro78del)	FOXG1	Deletion (inframe_indel +1 more)	Rett syndrome, congenital variant	GLikely benign
Select item 2415065	NM_005249.5(FOXG1):c.230C>T (p.Pro77Leu)	FOXG1 (P77L)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant +1 more	GUncertain significance
Select item 2413593	NM_005249.5(FOXG1):c.443G>C (p.Gly148Ala)	FOXG1 (G148A)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GBenign
Select item 2412734	NM_005249.5(FOXG1):c.814_821del (p.Lys272fs)	FOXG1 (K272fs)	Deletion (frameshift variant)	Rett syndrome, congenital variant	GPathogenic
Select item 2412733	NM_005249.5(FOXG1):c.637A>T (p.Lys213Ter)	FOXG1 (K213* +1 more)	Single nucleotide variant (nonsense)	Rett syndrome, congenital variant	GPathogenic
Select item 2248642	NM_005249.5(FOXG1):c.680A>T (p.Asn227Ile)	FOXG1 (N208I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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