"GeneDx"[submitter] AND "FOXG1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 1229264	NM_005249.5(FOXG1):c.-338_-337insA	FOXG1	Insertion (5 prime UTR variant)	not provided	GBenign
Select item 1207223	NM_005249.5(FOXG1):c.-329dup	FOXG1	Duplication (5 prime UTR variant)	not provided	GLikely benign
Select item 673246	NM_005249.5(FOXG1):c.-269G>C	FOXG1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1211390	NM_005249.5(FOXG1):c.-210dup	FOXG1	Duplication (5 prime UTR variant)	not provided	GLikely benign
Select item 1188300	NM_005249.5(FOXG1):c.-210del	FOXG1	Deletion (5 prime UTR variant)	not provided	GLikely benign
Select item 386955	NM_005249.5(FOXG1):c.-26C>G	FOXG1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 389424	NM_005249.5(FOXG1):c.-18C>T	FOXG1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 392858	NM_005249.5(FOXG1):c.9C>T (p.Asp3=)	FOXG1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3365267	NM_005249.5(FOXG1):c.10A>G (p.Met4Val)	FOXG1 (M4V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 511954	NM_005249.5(FOXG1):c.57C>T (p.Ser19=)	FOXG1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1300685	NM_005249.5(FOXG1):c.91G>A (p.Asp31Asn)	FOXG1 (D31N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1699618	NM_005249.5(FOXG1):c.103G>A (p.Ala35Thr)	FOXG1 (A35T)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant +1 more	GUncertain significance
Select item 1187038	NM_005249.5(FOXG1):c.105G>A (p.Ala35=)	FOXG1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 506291	NM_005249.5(FOXG1):c.105G>T (p.Ala35=)	FOXG1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 858044	NM_005249.5(FOXG1):c.115CAC[1] (p.His40del)	FOXG1 (H40del)	Microsatellite (inframe_deletion)	Inborn genetic diseases +2 more	GLikely benign
Select item 3365021	NM_005249.5(FOXG1):c.118C>A (p.His40Asn)	FOXG1 (H40N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1329688	NM_005249.5(FOXG1):c.134_148del (p.Pro45_His49del)	FOXG1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 449126	NM_005249.5(FOXG1):c.131A>C (p.His44Pro)	FOXG1 (H44P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 205496	NM_005249.5(FOXG1):c.136dup (p.Gln46fs)	FOXG1 (Q46fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 205461	NM_005249.5(FOXG1):c.132C>A (p.His44Gln)	FOXG1 (H44Q)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 189610	NM_005249.5(FOXG1):c.136C>T (p.Gln46Ter)	FOXG1 (Q46*)	Single nucleotide variant (nonsense)	Rett syndrome, congenital variant +2 more	GPathogenic
Select item 1162244	NM_005249.5(FOXG1):c.141CCA[10] (p.His55_His57dup)	FOXG1	Microsatellite (inframe_insertion)	FOXG1 disorder	GUncertain significance FDA Recognized database
Select item 189606	NM_005249.5(FOXG1):c.141CCA[8] (p.His57dup)	FOXG1	Microsatellite (inframe_insertion)	FOXG1 disorder +2 more	GLikely benign
Select item 205462	NM_005249.5(FOXG1):c.141CCA[4] (p.His55_His57del)	FOXG1	Microsatellite (inframe_deletion)	FOXG1 disorder	GBenign FDA Recognized database
Select item 1090652	NM_005249.5(FOXG1):c.150C>T (p.His50=)	FOXG1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 487208	NM_005249.5(FOXG1):c.159C>T (p.His53=)	FOXG1	Single nucleotide variant (synonymous variant)	Rett syndrome, congenital variant +2 more	GLikely benign
Select item 205463	NM_005249.5(FOXG1):c.162T>C (p.His54=)	FOXG1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 205464	NM_005249.5(FOXG1):c.165C>T (p.His55=)	FOXG1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 451937	NM_005249.5(FOXG1):c.177_186dup (p.Pro63fs)	FOXG1 (P63fs)	Duplication (frameshift variant)	FOXG1 disorder	GPathogenic FDA Recognized database
Select item 385108	NM_005249.5(FOXG1):c.171C>A (p.His57Gln)	FOXG1 (H57Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 817446	NM_005249.5(FOXG1):c.178_280del (p.Pro60fs)	FOXG1 (P60fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 205466	NM_005249.5(FOXG1):c.182_208del (p.Pro61_Pro69del)	FOXG1	Deletion (inframe_deletion)	not specified +1 more	GLikely benign
Select item 158590	NM_005249.5(FOXG1):c.183_206del (p.Ala62_Pro69del)	FOXG1	Deletion (inframe_deletion)	not specified +1 more	GLikely benign
Select item 205465	NM_005249.5(FOXG1):c.181C>T (p.Pro61Ser)	FOXG1 (P61S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 205504	NM_005249.5(FOXG1):c.188C>G (p.Pro63Arg)	FOXG1 (P63R)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant +1 more	GLikely benign
Select item 205467	NM_005249.5(FOXG1):c.189G>T (p.Pro63=)	FOXG1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 421833	NM_005249.5(FOXG1):c.209_235dup (p.Gln70_Pro78dup)	FOXG1	Duplication (inframe_insertion)	FOXG1 disorder	GBenign FDA Recognized database
Select item 193305	NM_005249.5(FOXG1):c.194CGC[6] (p.Pro69dup)	FOXG1	Microsatellite (inframe_insertion)	FOXG1 disorder	GBenign FDA Recognized database
Select item 419867	NM_005249.5(FOXG1):c.207_236del (p.Gln70_Pro79del)	FOXG1	Deletion (inframe_deletion)	Rett syndrome, congenital variant +1 more	GLikely benign
Select item 158592	NM_005249.5(FOXG1):c.209_235del (p.Gln70_Pro78del)	FOXG1	Deletion (inframe_deletion)	FOXG1 disorder	GBenign FDA Recognized database
Select item 193308	NM_005249.5(FOXG1):c.209_232del (p.Gln70_Pro77del)	FOXG1	Deletion (inframe_deletion)	FOXG1 disorder	GBenign FDA Recognized database
Select item 517669	NM_005249.5(FOXG1):c.209_229del (p.Gln70_Pro76del)	FOXG1	Deletion (inframe_deletion)	FOXG1 disorder	GBenign FDA Recognized database
Select item 137388	NM_005249.5(FOXG1):c.201G>T (p.Pro67=)	FOXG1	Single nucleotide variant (synonymous variant)	FOXG1 disorder	GBenign FDA Recognized database
Select item 205505	NM_005249.5(FOXG1):c.202C>T (p.Pro68Ser)	FOXG1 (P68S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 419643	NM_005249.5(FOXG1):c.206_214dup (p.Pro69_Gln71dup)	FOXG1	Duplication (inframe_insertion)	not specified	GLikely benign
Select item 1304019	NM_005249.5(FOXG1):c.206C>T (p.Pro69Leu)	FOXG1 (P69L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 167089	NM_005249.5(FOXG1):c.206C>A (p.Pro69Gln)	FOXG1 (P69Q)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 95265	NM_005249.5(FOXG1):c.209AGC[5] (p.Gln73dup)	FOXG1	Microsatellite (inframe_insertion)	FOXG1 disorder	GBenign FDA Recognized database
Select item 158591	NM_005249.5(FOXG1):c.209A>C (p.Gln70Pro)	FOXG1 (Q70P)	Single nucleotide variant (missense variant)	FOXG1 disorder	GBenign FDA Recognized database
Select item 379243	NM_005249.5(FOXG1):c.213G>A (p.Gln71=)	FOXG1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 205480	NM_005249.5(FOXG1):c.217C>T (p.Gln73Ter)	FOXG1 (Q73*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 487321	NM_005249.5(FOXG1):c.219GCC[8] (p.Pro79_Pro80dup)	FOXG1	Microsatellite (inframe_insertion)	Rett syndrome, congenital variant +2 more	GConflicting classifications of pathogenicity
Select item 193306	NM_005249.5(FOXG1):c.218A>C (p.Gln73Pro)	FOXG1 (Q73P)	Single nucleotide variant (missense variant)	FOXG1 disorder	GBenign FDA Recognized database
Select item 167090	NM_005249.5(FOXG1):c.219GCC[7] (p.Pro80dup)	FOXG1	Microsatellite (inframe_insertion)	FOXG1 disorder	GLikely benign FDA Recognized database
Select item 1300752	NM_005249.5(FOXG1):c.221C>T (p.Pro74Leu)	FOXG1 (P74L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 818039	NM_005249.5(FOXG1):c.221_228delinsAGCCGCCCCC (p.Pro74fs)	FOXG1 (P74fs)	Indel (frameshift variant)	not provided	GPathogenic
Select item 205468	NM_005249.5(FOXG1):c.221C>A (p.Pro74Gln)	FOXG1 (P74Q)	Single nucleotide variant (missense variant)	FOXG1 disorder	GBenign FDA Recognized database
Select item 205511	NM_005249.5(FOXG1):c.225_226delinsACCG (p.Pro77fs)	FOXG1 (P77fs)	Indel (frameshift variant)	not provided	GPathogenic
Select item 1021635	NM_005249.5(FOXG1):c.227C>T (p.Pro76Leu)	FOXG1 (P76L)	Single nucleotide variant (missense variant)	FOXG1 disorder	GLikely benign FDA Recognized database
Select item 516086	NM_005249.5(FOXG1):c.233_247del (p.Pro78_Pro82del)	FOXG1	Deletion (inframe_deletion)	not provided +2 more	GLikely benign
Select item 1207491	NM_005249.5(FOXG1):c.234_235insGCC (p.Pro78_Pro79insAla)	FOXG1	Insertion (inframe_insertion)	not provided	GLikely benign
Select item 205500	NM_005249.5(FOXG1):c.239dup (p.Ala81fs)	FOXG1 (A81fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 1188213	NM_005249.5(FOXG1):c.240G>C (p.Pro80=)	FOXG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 381765	NM_005249.5(FOXG1):c.240G>A (p.Pro80=)	FOXG1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 205469	NM_005249.5(FOXG1):c.245C>A (p.Pro82Gln)	FOXG1 (P82Q)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 189613	NM_005249.5(FOXG1):c.256dup (p.Gln86fs)	FOXG1 (Q86fs)	Duplication (frameshift variant)	Abnormality of the nervous system +3 more	GPathogenic
Select item 189612	NM_005249.5(FOXG1):c.256del (p.Gln86fs)	FOXG1 (Q86fs)	Deletion (frameshift variant)	FOXG1 disorder	GPathogenic FDA Recognized database
Select item 380242	NM_005249.5(FOXG1):c.251C>A (p.Pro84His)	FOXG1 (P84H)	Single nucleotide variant (missense variant)	FOXG1 disorder	GBenign FDA Recognized database
Select item 387087	NM_005249.5(FOXG1):c.256C>G (p.Gln86Glu)	FOXG1 (Q86E)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 189611	NM_005249.5(FOXG1):c.256C>T (p.Gln86Ter)	FOXG1 (Q86*)	Single nucleotide variant (nonsense)	Rett syndrome, congenital variant +2 more	GPathogenic/Likely pathogenic
Select item 817337	NM_005249.5(FOXG1):c.265_266dup (p.Ala92fs)	FOXG1 (A92fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 506632	NM_005249.5(FOXG1):c.263G>A (p.Arg88Gln)	FOXG1 (R88Q)	Single nucleotide variant (missense variant)	FOXG1 disorder	GLikely benign FDA Recognized database
Select item 390253	NM_005249.5(FOXG1):c.268G>T (p.Ala90Ser)	FOXG1 (A90S)	Single nucleotide variant (missense variant)	FOXG1 disorder	GBenign FDA Recognized database
Select item 158594	NM_005249.5(FOXG1):c.298del (p.Gln100fs)	FOXG1 (Q100fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 3338733	NM_005249.5(FOXG1):c.299A>T (p.Gln100Leu)	FOXG1 (Q100L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1205461	NM_005249.5(FOXG1):c.300G>A (p.Gln100=)	FOXG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 834510	NM_005249.5(FOXG1):c.301C>T (p.Gln101Ter)	FOXG1 (Q101*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1095659	NM_005249.5(FOXG1):c.304C>T (p.Leu102=)	FOXG1	Single nucleotide variant (synonymous variant)	Rett syndrome, congenital variant +1 more	GLikely benign
Select item 1195165	NM_005249.5(FOXG1):c.305T>C (p.Leu102Pro)	FOXG1 (L102P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2492678	NM_005249.5(FOXG1):c.310C>T (p.Leu104Phe)	FOXG1 (L104F)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant +2 more	GUncertain significance
Select item 1305522	NM_005249.5(FOXG1):c.315GCC[5] (p.Pro111_Pro112dup)	FOXG1	Microsatellite (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1109435	NM_005249.5(FOXG1):c.313_314insAGCCGC (p.Leu104_Pro105insGlnPro)	FOXG1	Insertion (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1809916	NM_005249.5(FOXG1):c.317C>T (p.Pro106Leu)	FOXG1 (P106L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1133709	NM_005249.5(FOXG1):c.318G>A (p.Pro106=)	FOXG1	Single nucleotide variant (synonymous variant)	Rett syndrome, congenital variant +1 more	GLikely benign
Select item 205501	NM_005249.5(FOXG1):c.321GCCACC[3] (p.Pro111_Pro112dup)	FOXG1	Microsatellite (inframe_insertion)	not specified +1 more	GUncertain significance
Select item 95267	NM_005249.5(FOXG1):c.326C>T (p.Pro109Leu)	FOXG1 (P109L)	Single nucleotide variant (missense variant)	FOXG1 disorder	GLikely benign FDA Recognized database
Select item 1215981	NM_005249.5(FOXG1):c.329C>G (p.Pro110Arg)	FOXG1 (P110R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 516265	NM_005249.5(FOXG1):c.335C>T (p.Pro112Leu)	FOXG1 (P112L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2503397	NM_005249.5(FOXG1):c.340G>A (p.Ala114Thr)	FOXG1 (A114T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 205470	NM_005249.5(FOXG1):c.344C>T (p.Ala115Val)	FOXG1 (A115V)	Single nucleotide variant (missense variant)	FOXG1 disorder	GBenign FDA Recognized database
Select item 2497868	NM_005249.5(FOXG1):c.347T>G (p.Leu116Arg)	FOXG1 (L116R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 205481	NM_005249.5(FOXG1):c.355G>T (p.Ala119Ser)	FOXG1 (A119S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1201505	NM_005249.5(FOXG1):c.367G>C (p.Gly123Arg)	FOXG1 (G123R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 205471	NM_005249.5(FOXG1):c.376G>A (p.Gly126Ser)	FOXG1 (G126S)	Single nucleotide variant (missense variant)	FOXG1 disorder	GBenign FDA Recognized database
Select item 205502	NM_005249.5(FOXG1):c.383dup (p.Glu129fs)	FOXG1 (E129fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 205472	NM_005249.5(FOXG1):c.386_397dup (p.Glu129_Gly132dup)	FOXG1	Duplication (inframe_insertion)	Rett syndrome, congenital variant +1 more	GConflicting classifications of pathogenicity
Select item 673188	NM_005249.5(FOXG1):c.382G>T (p.Gly128Cys)	FOXG1 (G128C)	Single nucleotide variant (missense variant)	FOXG1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 452952	NM_005249.5(FOXG1):c.385G>T (p.Glu129Ter)	FOXG1 (E129*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 205503	NM_005249.5(FOXG1):c.399del (p.Pro134fs)	FOXG1 (P134fs)	Deletion (frameshift variant)	not provided	GPathogenic

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