C0036572[trait identifier] AND "Institute for Human Genetics, Universi - ClinVar - NCBI

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Items: 14

	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)	Seizure +2 more	GLikely pathogenic
Select item 995788	NM_015557.3(CHD5):c.4463A>T (p.Asp1488Val)	CHD5 (D1488V)	Single nucleotide variant (missense variant)	Seizure +2 more	GLikely pathogenic
Select item 995787	NM_015557.3(CHD5):c.4257C>G (p.Ile1419Met)	CHD5 (I1419M)	Single nucleotide variant (missense variant)	Seizure +2 more	GLikely pathogenic
Select item 995785	NM_015557.3(CHD5):c.4079-3C>G	CHD5	Single nucleotide variant (intron variant)	not provided +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)	not provided +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 995777	NM_015557.3(CHD5):c.940G>T (p.Glu314Ter)	CHD5 (E314*)	Single nucleotide variant (nonsense)	Seizure	GLikely pathogenic
Select item 995776	NM_015557.3(CHD5):c.612dup (p.Ser205fs)	CHD5 (S205fs)	Duplication (frameshift variant)	Seizure +1 more	GLikely pathogenic
Select item 933146	NM_021614.4(KCNN2):c.1720G>A (p.Gly574Ser)	KCNN2, LOC101927078 (G640S +2 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay +4 more	GPathogenic/Likely pathogenic
Select item 933148	NM_021614.4(KCNN2):c.1890+2T>C	KCNN2, LOC101927078	Single nucleotide variant (splice donor variant)	Autistic behavior +4 more	GLikely pathogenic
Select item 279678	NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs)	ANKRD11 (K635fs)	Microsatellite (frameshift variant)	not provided +11 more	GPathogenic/Likely pathogenic
Select item 933135	NM_006950.3(SYN1):c.1447C>T (p.Gln483Ter)	SYN1 (Q483*)	Single nucleotide variant (nonsense)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders +1 more	GPathogenic