"PreventionGenetics, part of Exact Sciences"[submitter] AND "FOXG1"[ge - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 189606	NM_005249.5(FOXG1):c.141CCA[8] (p.His57dup)	FOXG1	Microsatellite (inframe_insertion)	Rett syndrome, congenital variant +2 more	GLikely benign
Select item 3042410	NM_005249.5(FOXG1):c.194CGC[4] (p.Pro69del)	FOXG1 (P69del)	Microsatellite (inframe_indel +1 more)	FOXG1-related disorder	GLikely benign
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 137388	NM_005249.5(FOXG1):c.201G>T (p.Pro67=)	FOXG1	Single nucleotide variant (synonymous variant)	FOXG1 disorder	GBenign FDA Recognized database
Select item 167089	NM_005249.5(FOXG1):c.206C>A (p.Pro69Gln)	FOXG1 (P69Q)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant +4 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 167090	NM_005249.5(FOXG1):c.219GCC[7] (p.Pro80dup)	FOXG1	Microsatellite (inframe_insertion)	FOXG1 disorder	GLikely benign FDA Recognized database
Select item 704508	NM_005249.5(FOXG1):c.219GCC[5] (p.Pro80del)	FOXG1 (P80del)	Microsatellite (inframe_deletion)	Inborn genetic diseases +2 more	GLikely benign
Select item 2415065	NM_005249.5(FOXG1):c.230C>T (p.Pro77Leu)	FOXG1 (P77L)	Single nucleotide variant (missense variant)	FOXG1-related disorder +1 more	GUncertain significance
Select item 2632729	NM_005249.5(FOXG1):c.231del (p.Pro78fs)	FOXG1 (P78fs)	Deletion (frameshift variant)	FOXG1-related disorder	GLikely pathogenic
Select item 1188213	NM_005249.5(FOXG1):c.240G>C (p.Pro80=)	FOXG1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1549988	NM_005249.5(FOXG1):c.315_323del (p.Pro110_Pro112del)	FOXG1	Deletion (inframe_deletion)	Rett syndrome, congenital variant +1 more	GLikely benign
Select item 205470	NM_005249.5(FOXG1):c.344C>T (p.Ala115Val)	FOXG1 (A115V)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 794638	NM_005249.5(FOXG1):c.378C>T (p.Gly126=)	FOXG1	Single nucleotide variant (synonymous variant)	Rett syndrome, congenital variant +1 more	GBenign/Likely benign
Select item 673188	NM_005249.5(FOXG1):c.382G>T (p.Gly128Cys)	FOXG1 (G128C)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant +2 more	GConflicting classifications of pathogenicity
Select item 137389	NM_005249.5(FOXG1):c.447C>T (p.Ala149=)	FOXG1	Single nucleotide variant (synonymous variant)	FOXG1 disorder	GBenign FDA Recognized database
Select item 95268	NM_005249.5(FOXG1):c.460dup (p.Glu154fs)	FOXG1 (E154fs)	Duplication (frameshift variant)	FOXG1 disorder	GPathogenic FDA Recognized database
Select item 158595	NM_005249.5(FOXG1):c.456G>T (p.Gly152=)	FOXG1	Single nucleotide variant (synonymous variant)	FOXG1 disorder	GBenign FDA Recognized database
Select item 379912	NM_005249.5(FOXG1):c.460G>T (p.Glu154Ter)	FOXG1 (E154*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1911932	NM_005249.5(FOXG1):c.475G>A (p.Ala159Thr)	FOXG1 (A140T +1 more)	Single nucleotide variant (missense variant)	FOXG1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2632593	NM_005249.5(FOXG1):c.487G>A (p.Gly163Ser)	FOXG1 (G144S +1 more)	Single nucleotide variant (missense variant)	FOXG1-related disorder	GUncertain significance
Select item 137390	NM_005249.5(FOXG1):c.489C>T (p.Gly163=)	FOXG1	Single nucleotide variant (synonymous variant)	FOXG1 disorder	GBenign FDA Recognized database
Select item 205474	NM_005249.5(FOXG1):c.503G>C (p.Gly168Ala)	FOXG1 (G168A)	Single nucleotide variant (missense variant)	FOXG1 disorder	GBenign FDA Recognized database
Select item 377893	NM_005249.5(FOXG1):c.852G>A (p.Leu284=)	FOXG1	Single nucleotide variant (synonymous variant)	Rett syndrome, congenital variant +3 more	GLikely benign
Select item 2631782	NM_005249.5(FOXG1):c.886G>A (p.Gly296Ser)	FOXG1 (G276S +1 more)	Single nucleotide variant (missense variant)	FOXG1-related disorder	GUncertain significance
Select item 738840	NM_005249.5(FOXG1):c.933G>T (p.Ser311=)	FOXG1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 2630318	NM_005249.5(FOXG1):c.1032_1033del (p.Leu345fs)	FOXG1 (L345fs)	Microsatellite (frameshift variant)	FOXG1-related disorder	GLikely pathogenic
Select item 377894	NM_005249.5(FOXG1):c.1200C>T (p.Tyr400=)	FOXG1	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 2633751	NM_005249.5(FOXG1):c.1247A>C (p.Tyr416Ser)	FOXG1 (Y395S +1 more)	Single nucleotide variant (missense variant)	FOXG1-related disorder	GUncertain significance
Select item 3042599	NM_005249.5(FOXG1):c.1337A>G (p.Gln446Arg)	FOXG1 (Q446R)	Single nucleotide variant (synonymous variant +1 more)	FOXG1-related disorder	GUncertain significance
Select item 2629385	NM_005249.5(FOXG1):c.1372C>A (p.Pro458Thr)	FOXG1 (P438T +1 more)	Single nucleotide variant (missense variant)	FOXG1-related disorder	GUncertain significance
Select item 95263	NM_005249.5(FOXG1):c.*13C>A	FOXG1	Single nucleotide variant (3 prime UTR variant)	not specified	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 32