2290[geneid] - 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 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	MIR4503, MIR624 +399 more	Copy number loss	See cases	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 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 149801	GRCh38/hg38 14q12(chr14:28767072-28768032)x3	FOXG1	Copy number gain	See cases	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 471463	NC_000014.8:g.(?_29236466)_(29237975_?)dup	FOXG1	Duplication	Rett syndrome, congenital variant	GUncertain significance
Select item 389424	NM_005249.5(FOXG1):c.-18C>T	FOXG1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1355692	NM_005249.5(FOXG1):c.1A>T (p.Met1Leu)	FOXG1 (M1L)	Single nucleotide variant (missense variant +1 more)	Rett syndrome, congenital variant	GUncertain significance
Select item 3362608	NM_005249.5(FOXG1):c.6_7insAACGAG (p.Leu2_Asp3insAsnGlu)	FOXG1	Insertion	Rett syndrome, congenital variant	GUncertain significance
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 2954649	NM_005249.5(FOXG1):c.21G>A (p.Arg7=)	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_deletion)	Rett syndrome, congenital variant	GUncertain significance
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 751607	NM_005249.5(FOXG1):c.39C>T (p.Ile13=)	FOXG1	Single nucleotide variant (synonymous variant)	Rett syndrome, congenital variant	GLikely benign
Select item 2094758	NM_005249.5(FOXG1):c.40C>T (p.Pro14Ser)	FOXG1 (P14S)	Single nucleotide variant (missense 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 511954	NM_005249.5(FOXG1):c.57C>T (p.Ser19=)	FOXG1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1588114	NM_005249.5(FOXG1):c.78G>A (p.Glu26=)	FOXG1	Single nucleotide variant (synonymous variant)	Rett syndrome, congenital variant	GLikely benign
Select item 1672061	NM_005249.5(FOXG1):c.81G>A (p.Ala27=)	FOXG1	Single nucleotide variant (synonymous variant)	Rett syndrome, congenital variant	GLikely benign
Select item 803012	NM_005249.5(FOXG1):c.85del (p.Gln29fs)	FOXG1 (Q29fs)	Deletion (frameshift variant)	Rett syndrome, congenital variant	GPathogenic
Select item 1711369	NM_005249.5(FOXG1):c.85C>T (p.Gln29Ter)	FOXG1 (Q29*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 764338	NM_005249.5(FOXG1):c.90C>T (p.Asn30=)	FOXG1	Single nucleotide variant (synonymous variant)	Rett syndrome, congenital variant	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 1144732	NM_005249.5(FOXG1):c.95A>G (p.Asn32Ser)	FOXG1 (N32S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 1052302	NM_005249.5(FOXG1):c.107G>A (p.Ser36Asn)	FOXG1 (S36N)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GBenign
Select item 1093515	NM_005249.5(FOXG1):c.111C>T (p.His37=)	FOXG1	Single nucleotide variant (synonymous variant)	Rett syndrome, congenital variant	GLikely 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 2015274	NM_005249.5(FOXG1):c.115C>T (p.His39Tyr)	FOXG1 (H39Y)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GBenign
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 2099777	NM_005249.5(FOXG1):c.119A>G (p.His40Arg)	FOXG1 (H40R)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GUncertain significance
Select item 2024911	NM_005249.5(FOXG1):c.123C>T (p.Asn41=)	FOXG1	Single nucleotide variant (synonymous variant)	Rett syndrome, congenital variant	GUncertain significance
Select item 1503444	NM_005249.5(FOXG1):c.125G>C (p.Ser42Thr)	FOXG1 (S42T)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GUncertain significance
Select item 2028645	NM_005249.5(FOXG1):c.134_160del (p.Pro45_His53del)	FOXG1	Deletion (inframe_deletion)	Rett syndrome, congenital variant	GLikely benign
Select item 1329688	NM_005249.5(FOXG1):c.134_148del (p.Pro45_His49del)	FOXG1	Deletion (inframe_deletion)	not provided	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 1132676	NM_005249.5(FOXG1):c.131A>G (p.His44Arg)	FOXG1 (H44R)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GLikely benign
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 158587	NM_005249.5(FOXG1):c.135_136dup (p.Gln46fs)	FOXG1 (Q46fs)	Duplication (frameshift variant)	Rett syndrome, congenital variant	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 3237338	NM_005249.5(FOXG1):c.133_469delinsACCCACCGCCCC (p.Pro45fs)	FOXG1 (P45fs)	Indel (frameshift variant)	FOXG1 disorder	GLikely pathogenic
Select item 1442905	NM_005249.5(FOXG1):c.134C>A (p.Pro45His)	FOXG1 (P45H)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GUncertain significance
Select item 1060352	NM_005249.5(FOXG1):c.134C>T (p.Pro45Leu)	FOXG1 (P45L)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GUncertain significance
Select item 2644145	NM_005249.5(FOXG1):c.135C>T (p.Pro45=)	FOXG1	Single nucleotide variant (synonymous variant)	not provided	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 2295769	NM_005249.5(FOXG1):c.138G>C (p.Gln46His)	FOXG1 (Q46H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1771514	NM_005249.5(FOXG1):c.138G>A (p.Gln46=)	FOXG1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
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 1085933	NM_005249.5(FOXG1):c.141CCA[9] (p.His56_His57dup)	FOXG1	Microsatellite (inframe_insertion)	Rett syndrome, congenital variant	GLikely benign
Select item 189606	NM_005249.5(FOXG1):c.141CCA[8] (p.His57dup)	FOXG1	Microsatellite (inframe_insertion)	FOXG1 disorder +2 more	GLikely benign
Select item 1773994	NM_005249.5(FOXG1):c.141CCA[3] (p.His54_His57del)	FOXG1	Microsatellite (inframe_deletion)	Rett syndrome, congenital variant +1 more	GLikely benign
Select item 569855	NM_005249.5(FOXG1):c.141CCA[5] (p.His56_His57del)	FOXG1	Microsatellite (inframe_deletion)	Rett syndrome, congenital variant +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 158588	NM_005249.5(FOXG1):c.141CCA[6] (p.His57del)	FOXG1 (H57del)	Microsatellite (inframe_deletion)	Rett syndrome, congenital variant +2 more	GBenign/Likely benign
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 650891	NM_005249.5(FOXG1):c.158_172del (p.His53_His57del)	FOXG1	Deletion (inframe_deletion)	Rett syndrome, congenital variant	GUncertain significance
Select item 843681	NM_005249.5(FOXG1):c.149A>G (p.His50Arg)	FOXG1 (H50R)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GUncertain significance
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 2783691	NM_005249.5(FOXG1):c.153C>T (p.His51=)	FOXG1	Single nucleotide variant (synonymous variant)	Rett syndrome, congenital variant	GLikely benign
Select item 873437	NM_005249.5(FOXG1):c.156_160del (p.His52fs)	FOXG1 (H52fs)	Deletion (frameshift variant)	Rett syndrome, congenital variant	GLikely pathogenic
Select item 2149776	NM_005249.5(FOXG1):c.162_167del (p.His56_His57del)	FOXG1	Deletion (inframe_deletion)	Rett syndrome, congenital variant	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 1609893	NM_005249.5(FOXG1):c.164ACC[5] (p.His56_His57dup)	FOXG1	Microsatellite (inframe_insertion)	Rett syndrome, congenital variant	GLikely benign
Select item 487209	NM_005249.5(FOXG1):c.164ACC[4] (p.His57dup)	FOXG1	Microsatellite (inframe_insertion)	not provided +1 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 2102874	NM_005249.5(FOXG1):c.164ACC[1] (p.His56_His57del)	FOXG1	Microsatellite (inframe_deletion)	Rett syndrome, congenital variant	GLikely 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 3279589	NM_005249.5(FOXG1):c.166C>T (p.His56Tyr)	FOXG1 (H56Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1548347	NM_005249.5(FOXG1):c.168C>T (p.His56=)	FOXG1	Single nucleotide variant (synonymous variant)	Rett syndrome, congenital variant	GLikely benign
Select item 158589	NM_005249.5(FOXG1):c.170_179del (p.His57fs)	FOXG1 (H57fs)	Deletion (frameshift variant)	Rett syndrome, congenital variant	GPathogenic
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 2879362	NM_005249.5(FOXG1):c.183_203dup (p.Pro68_Pro69insAlaProGlnProProProPro)	FOXG1	Duplication (inframe_insertion)	Rett syndrome, congenital variant	GUncertain significance
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 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 1087940	NM_005249.5(FOXG1):c.173C>T (p.Pro58Leu)	FOXG1 (P58L)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GLikely benign
Select item 963507	NM_005249.5(FOXG1):c.176C>T (p.Pro59Leu)	FOXG1 (P59L)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GUncertain significance
Select item 471464	NM_005249.5(FOXG1):c.180G>C (p.Pro60=)	FOXG1	Single nucleotide variant (synonymous variant)	Rett syndrome, congenital variant	GLikely benign
Select item 205465	NM_005249.5(FOXG1):c.181C>T (p.Pro61Ser)	FOXG1 (P61S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1125850	NM_005249.5(FOXG1):c.186C>T (p.Ala62=)	FOXG1	Single nucleotide variant (synonymous variant)	Rett syndrome, congenital variant	GLikely benign
Select item 1170379	NM_005249.5(FOXG1):c.187C>T (p.Pro63Ser)	FOXG1 (P63S)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GBenign
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 2418090	NM_005249.5(FOXG1):c.192_218del (p.Gln70_Pro78del)	FOXG1	Deletion (inframe_deletion)	Rett syndrome, congenital variant	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

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