"Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia"[submitter] - ClinVar - NCBI

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

Search results

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2503467	Single allele	LOC121587566, LOC121587567 +218 more	Deletion	KBG syndrome	GPathogenic
Select item 2503468	Single allele	LOC130059772, LOC130059773 +138 more	Deletion	KBG syndrome	GPathogenic
Select item 2503469	Single allele	ACSF3, ANKRD11 +116 more	Deletion	KBG syndrome	GPathogenic
Select item 1679412	NM_013275.6(ANKRD11):c.7470+1G>C	ANKRD11	Single nucleotide variant (splice donor variant)	KBG syndrome	GPathogenic
Select item 2503460	NM_013275.6(ANKRD11):c.7048C>T (p.Gln2350Ter)	ANKRD11 (Q2350*)	Single nucleotide variant (nonsense)	KBG syndrome	GPathogenic
Select item 2503459	NM_013275.6(ANKRD11):c.6982C>T (p.Arg2328Ter)	ANKRD11 (R2328*)	Single nucleotide variant (nonsense)	KBG syndrome	GPathogenic/Likely pathogenic
Select item 2503458	NM_013275.6(ANKRD11):c.5813_5817del (p.Pro1938fs)	ANKRD11 (P1938fs)	Deletion (frameshift variant)	KBG syndrome	GPathogenic
Select item 2503457	NM_013275.6(ANKRD11):c.4964_4965del (p.Lys1655fs)	ANKRD11 (K1655fs)	Deletion (frameshift variant)	KBG syndrome	GPathogenic
Select item 2503466	NM_013275.6(ANKRD11):c.4117A>T (p.Lys1373Ter)	ANKRD11 (K1373*)	Single nucleotide variant (nonsense)	KBG syndrome	GPathogenic
Select item 2503465	NM_013275.6(ANKRD11):c.3835dup (p.Ser1279fs)	ANKRD11 (S1279fs)	Duplication (frameshift variant)	KBG syndrome	GPathogenic
Select item 1679349	NM_013275.6(ANKRD11):c.3787_3788del (p.Glu1263fs)	ANKRD11 (E1263fs)	Deletion (frameshift variant)	KBG syndrome	GPathogenic/Likely pathogenic
Select item 2503464	NM_013275.6(ANKRD11):c.3779C>A (p.Ser1260Ter)	ANKRD11 (S1260*)	Single nucleotide variant (nonsense)	KBG syndrome	GPathogenic
Select item 1679373	NM_013275.6(ANKRD11):c.3693_3697del (p.Asp1231fs)	ANKRD11 (D1231fs)	Deletion (frameshift variant)	KBG syndrome	GPathogenic
Select item 2503463	NM_013275.6(ANKRD11):c.3509_3512del (p.Lys1170fs)	ANKRD11 (K1170fs)	Deletion (frameshift variant)	KBG syndrome	GPathogenic
Select item 2503462	NM_013275.6(ANKRD11):c.3024_3025dup (p.Lys1009fs)	ANKRD11 (K1009fs)	Microsatellite (frameshift variant)	KBG syndrome	GPathogenic
Select item 2503461	NM_013275.6(ANKRD11):c.1583dup (p.Ser528fs)	ANKRD11 (S528fs)	Duplication (frameshift variant)	KBG syndrome	GPathogenic
Select item 2503456	NM_013275.6(ANKRD11):c.505G>T (p.Glu169Ter)	ANKRD11 (E169*)	Single nucleotide variant (nonsense +1 more)	KBG syndrome	GPathogenic
Select item 2503470	Single allele	ANKRD11, LOC101927817 +23 more	Deletion	KBG syndrome	GLikely pathogenic
Select item 2503471	Single allele	ANKRD11, LOC101927817 +23 more	Deletion	KBG syndrome	GLikely pathogenic