"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 189610	NM_005249.5(FOXG1):c.136C>T (p.Gln46Ter)	FOXG1 (Q46*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
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 487210	NM_005249.5(FOXG1):c.214C>T (p.Gln72Ter)	FOXG1 (Q72*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1325744	NM_005249.5(FOXG1):c.222_223dup (p.Pro75fs)	FOXG1 (P75fs)	Duplication (frameshift variant)	Rett syndrome, congenital variant	GPathogenic
Select item 189613	NM_005249.5(FOXG1):c.256dup (p.Gln86fs)	FOXG1 (Q86fs)	Duplication (frameshift variant)	not provided +2 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 189611	NM_005249.5(FOXG1):c.256C>T (p.Gln86Ter)	FOXG1 (Q86*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 158593	NM_005249.5(FOXG1):c.263_278del (p.Arg88fs)	FOXG1 (R88fs)	Deletion (frameshift variant)	Rett syndrome, congenital variant	GPathogenic
Select item 158594	NM_005249.5(FOXG1):c.298del (p.Gln100fs)	FOXG1 (Q100fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1325746	NM_005249.5(FOXG1):c.385del (p.Glu129fs)	FOXG1 (E129fs)	Deletion (frameshift variant)	Rett syndrome, congenital variant	GPathogenic
Select item 379607	NM_005249.5(FOXG1):c.406G>T (p.Glu136Ter)	FOXG1 (E136*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1325747	NM_005249.5(FOXG1):c.430G>T (p.Glu144Ter)	FOXG1 (E144*)	Single nucleotide variant (nonsense)	Rett syndrome, congenital variant	GPathogenic
Select item 95268	NM_005249.5(FOXG1):c.460dup (p.Glu154fs)	FOXG1 (E154fs)	Duplication (frameshift variant)	FOXG1 disorder	GPathogenic FDA Recognized database
Select item 372563	NM_005249.5(FOXG1):c.460del (p.Glu154fs)	FOXG1 (E154fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 503690	NM_005249.5(FOXG1):c.506dup (p.Lys170fs)	FOXG1 (K170fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 471470	NM_005249.5(FOXG1):c.506del (p.Gly169fs)	FOXG1 (G169fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 189614	NM_005249.5(FOXG1):c.505_506delinsT (p.Gly169fs)	FOXG1 (G169fs)	Indel (frameshift variant)	Rett syndrome, congenital variant	GPathogenic
Select item 1325839	NM_005249.5(FOXG1):c.515dup (p.Glu173fs)	FOXG1 (E173fs)	Duplication (frameshift variant)	Rett syndrome, congenital variant	GLikely pathogenic
Select item 1325749	NM_005249.5(FOXG1):c.515_577del (p.Gly172_Met192del)	FOXG1	Deletion (inframe_deletion)	Rett syndrome, congenital variant	GLikely pathogenic
Select item 1325750	NM_005249.5(FOXG1):c.517G>T (p.Glu173Ter)	FOXG1 (E173*)	Single nucleotide variant (nonsense)	Rett syndrome, congenital variant	GPathogenic
Select item 452598	NM_005249.5(FOXG1):c.537C>G (p.Tyr179Ter)	FOXG1 (Y179*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1325751	NM_005249.5(FOXG1):c.543G>C (p.Lys181Asn)	FOXG1 (K181N)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GPathogenic
Select item 1325752	NM_005249.5(FOXG1):c.545C>A (p.Pro182Gln)	FOXG1 (P182Q)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GPathogenic
Select item 189615	NM_005249.5(FOXG1):c.552dup (p.Ser185fs)	FOXG1 (S185fs)	Duplication (frameshift variant)	Rett syndrome, congenital variant	GPathogenic
Select item 252986	NM_005249.5(FOXG1):c.553A>T (p.Ser185Cys)	FOXG1 (S185C)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GLikely pathogenic
Select item 1320045	NM_005249.5(FOXG1):c.559A>G (p.Asn187Asp)	FOXG1 (N187D)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GPathogenic
Select item 205485	NM_005249.5(FOXG1):c.561C>A (p.Asn187Lys)	FOXG1 (N187K)	Single nucleotide variant (missense variant)	FOXG1 disorder	GPathogenic FDA Recognized database
Select item 1325754	NM_005249.5(FOXG1):c.565C>T (p.Leu189Phe)	FOXG1 (L189F)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1325755	NM_005249.5(FOXG1):c.572T>G (p.Met191Arg)	FOXG1 (M191R)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GLikely pathogenic
Select item 189616	NM_005249.5(FOXG1):c.577G>A (p.Ala193Thr)	FOXG1 (A193T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 1325756	NM_005249.5(FOXG1):c.581T>G (p.Ile194Ser)	FOXG1 (I194S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 205486	NM_005249.5(FOXG1):c.586C>T (p.Gln196Ter)	FOXG1 (Q196*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 976112	NM_005249.5(FOXG1):c.590G>T (p.Ser197Ile)	FOXG1 (S197I)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1325757	NM_005249.5(FOXG1):c.592_594del (p.Pro198del)	FOXG1 (P198del)	Deletion (inframe_deletion)	Rett syndrome, congenital variant	GPathogenic
Select item 1804124	NM_005249.5(FOXG1):c.604C>T (p.Leu202Phe)	FOXG1 (L183F +1 more)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GPathogenic
Select item 1325758	NM_005249.5(FOXG1):c.611_618del (p.Leu204fs)	FOXG1 (L204fs)	Deletion (frameshift variant)	Rett syndrome, congenital variant	GPathogenic
Select item 13869	NM_005249.5(FOXG1):c.624C>G (p.Tyr208Ter)	FOXG1 (Y208*)	Single nucleotide variant (nonsense)	Rett syndrome, congenital variant +2 more	GPathogenic
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 13870	NM_005249.5(FOXG1):c.643T>C (p.Phe215Leu)	FOXG1 (F215L)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GLikely pathogenic
Select item 205487	NM_005249.5(FOXG1):c.651C>G (p.Tyr217Ter)	FOXG1 (Y217*)	Single nucleotide variant (nonsense)	Rett syndrome, congenital variant +1 more	GPathogenic
Select item 1707548	NM_005249.5(FOXG1):c.680A>G (p.Asn227Ser)	FOXG1 (N208S +1 more)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GLikely pathogenic
Select item 189623	NM_005249.5(FOXG1):c.681C>G (p.Asn227Lys)	FOXG1 (N227K)	Single nucleotide variant (missense variant)	FOXG1 disorder	GUncertain significance FDA Recognized database
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 189619	NM_005249.5(FOXG1):c.700T>C (p.Ser234Pro)	FOXG1 (S234P)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GPathogenic
Select item 189620	NM_005249.5(FOXG1):c.730C>T (p.Arg244Cys)	FOXG1 (R244C)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GPathogenic
Select item 520758	NM_005249.5(FOXG1):c.732_741del (p.His245fs)	FOXG1 (H245fs)	Deletion (frameshift variant)	Rett syndrome, congenital variant +1 more	GPathogenic
Select item 1325759	NM_005249.5(FOXG1):c.735del (p.Tyr246fs)	FOXG1 (Y246fs)	Deletion (frameshift variant)	Rett syndrome, congenital variant	GPathogenic
Select item 1325760	NM_005249.5(FOXG1):c.755G>A (p.Gly252Asp)	FOXG1 (G252D)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GLikely pathogenic
Select item 158598	NM_005249.5(FOXG1):c.755G>T (p.Gly252Val)	FOXG1 (G252V)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant +1 more	GLikely pathogenic
Select item 158599	NM_005249.5(FOXG1):c.757A>G (p.Asn253Asp)	FOXG1 (N253D)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GPathogenic/Likely pathogenic
Select item 158600	NM_005249.5(FOXG1):c.762C>G (p.Tyr254Ter)	FOXG1 (Y254*)	Single nucleotide variant (nonsense)	Rett syndrome, congenital variant	GPathogenic
Select item 13867	NM_005249.5(FOXG1):c.765G>A (p.Trp255Ter)	FOXG1 (W255*)	Single nucleotide variant (nonsense)	Rett syndrome, congenital variant	GPathogenic
Select item 1325762	NM_005249.5(FOXG1):c.921C>G (p.Tyr307Ter)	FOXG1 (Y307*)	Single nucleotide variant (nonsense)	Rett syndrome, congenital variant	GPathogenic
Select item 13871	NM_005249.5(FOXG1):c.924G>A (p.Trp308Ter)	FOXG1 (W308*)	Single nucleotide variant (nonsense)	Rett syndrome, congenital variant	GPathogenic
Select item 189622	NM_005249.5(FOXG1):c.969del (p.Ser323fs)	FOXG1 (S323fs)	Deletion (frameshift variant)	Rett syndrome, congenital variant	GPathogenic
Select item 1325763	NM_005249.5(FOXG1):c.974dup (p.Leu325fs)	FOXG1 (L325fs)	Duplication (frameshift variant)	Rett syndrome, congenital variant	GPathogenic
Select item 520665	NM_005249.5(FOXG1):c.1082dup (p.Leu362fs)	FOXG1 (L362fs)	Duplication (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 1325764	NM_005249.5(FOXG1):c.1141del (p.Ala381fs)	FOXG1 (A381fs)	Deletion (frameshift variant)	Rett syndrome, congenital variant	GPathogenic
Select item 13872	NM_005249.5(FOXG1):c.1200C>G (p.Tyr400Ter)	FOXG1 (Y400*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 189609	NM_005249.5(FOXG1):c.1248C>G (p.Tyr416Ter)	FOXG1 (Y416*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 997966	GRCh37/hg19 14q12(chr14:27450705-31529481)x3	AP4S1, COCH +5 more	Copy number gain	Epilepsy +1 more	GPathogenic

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Items: 61