"Institute for Human Genetics, University Hospital Essen"[submitter] A - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 995789	NM_015557.3(CHD5):c.5141A>G (p.Glu1714Gly)	CHD5 (E1714G)	Single nucleotide variant (missense variant)	Intellectual disability +2 more	GLikely pathogenic
Select item 995788	NM_015557.3(CHD5):c.4463A>T (p.Asp1488Val)	CHD5 (D1488V)	Single nucleotide variant (missense variant)	Intellectual disability +2 more	GLikely pathogenic
Select item 995787	NM_015557.3(CHD5):c.4257C>G (p.Ile1419Met)	CHD5 (I1419M)	Single nucleotide variant (missense variant)	Intellectual disability +2 more	GLikely pathogenic
Select item 995786	NM_015557.3(CHD5):c.4171+1G>C	CHD5	Single nucleotide variant (splice donor variant)	Intellectual disability +1 more	GLikely pathogenic
Select item 995785	NM_015557.3(CHD5):c.4079-3C>G	CHD5	Single nucleotide variant (intron variant)	Intellectual disability +3 more	GConflicting classifications of pathogenicity
Select item 995784	NM_015557.3(CHD5):c.3419A>T (p.Asn1140Ile)	CHD5 (N1140I)	Single nucleotide variant (missense variant)	Seizure	GLikely pathogenic
Select item 995783	NM_015557.3(CHD5):c.3407G>A (p.Arg1136His)	CHD5 (R1136H)	Single nucleotide variant (missense variant)	Seizure +1 more	GLikely pathogenic
Select item 995782	NM_015557.3(CHD5):c.3371C>T (p.Pro1124Leu)	CHD5 (P1124L)	Single nucleotide variant (missense variant)	Intellectual disability +3 more	GPathogenic/Likely pathogenic
Select item 995781	NM_015557.3(CHD5):c.3250G>A (p.Asp1084Asn)	CHD5 (D1084N)	Single nucleotide variant (missense variant)	Seizure	GLikely pathogenic
Select item 995780	NM_015557.3(CHD5):c.2735C>T (p.Ser912Phe)	CHD5 (S912F)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 995779	NM_015557.3(CHD5):c.1786C>T (p.Arg596Ter)	CHD5 (R596*)	Single nucleotide variant (nonsense)	Global developmental delay	GLikely pathogenic
Select item 995778	NM_015557.3(CHD5):c.1279G>A (p.Glu427Lys)	CHD5 (E427K)	Single nucleotide variant (missense variant)	Global developmental delay	GLikely pathogenic
Select item 995777	NM_015557.3(CHD5):c.940G>T (p.Glu314Ter)	CHD5 (E314*)	Single nucleotide variant (nonsense)	Seizure +1 more	GLikely pathogenic
Select item 995790	NM_015557.3(CHD5):c.815C>T (p.Ala272Val)	CHD5 (A272V)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GUncertain significance
Select item 995776	NM_015557.3(CHD5):c.612dup (p.Ser205fs)	CHD5 (S205fs)	Duplication (frameshift variant)	Seizure +1 more	GLikely pathogenic
Select item 995775	NM_015557.3(CHD5):c.578G>A (p.Arg193Gln)	CHD5 (R193Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 995774	NM_015557.3(CHD5):c.577C>T (p.Arg193Trp)	CHD5 (R193W)	Single nucleotide variant (missense variant)	Global developmental delay	GLikely pathogenic