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

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 421178	NM_001375380.1(EBF3):c.1429_1441del (p.Thr477fs)	EBF3 (T468fs +1 more)	Deletion (frameshift variant +1 more)	Hypotonia, ataxia, and delayed development syndrome +2 more	GPathogenic
Select item 1172640	NM_001375380.1(EBF3):c.1408C>T (p.Arg470Ter)	EBF3 (R461* +1 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability +2 more	GConflicting classifications of pathogenicity
Select item 1285489	NM_001375380.1(EBF3):c.491G>C (p.Cys164Ser)	EBF3 (C164S)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GLikely pathogenic
Select item 828142	NM_001375380.1(EBF3):c.428G>A (p.Gly143Asp)	EBF3 (G143D)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GLikely pathogenic
Select item 375497	NM_001375380.1(EBF3):c.422A>G (p.Tyr141Cys)	EBF3 (Y141C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1297046	NM_001375380.1(EBF3):c.326A>C (p.His109Pro)	EBF3 (H109P)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GLikely pathogenic
Select item 1285453	NM_001375380.1(EBF3):c.187C>T (p.Arg63Trp)	EBF3 (R63W)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GLikely pathogenic
Select item 2580338	GRCh37/hg19 10q26.13-26.3(chr10:124895517-135440296)x1	ABRAXAS2, ADAM12 +62 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic