C3714756[trait identifier] AND "CHU Sainte-Justine Research Center, Un - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 430804	NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg)	ACTL6B (G343R)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with severe speech and ambulation defects +4 more	GPathogenic/Likely pathogenic
Select item 694386	NM_018002.3(OXR1):c.[1100C>G;2082+1G>T]	OXR1 (S360* +2 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability +2 more	GLikely pathogenic
Select item 694387	NM_001198533.2(OXR1):c.1324del (p.Ser442fs)	OXR1 (S435fs +2 more)	Deletion (frameshift variant)	Intellectual disability +3 more	GPathogenic/Likely pathogenic
Select item 694388	NM_001198533.2(OXR1):c.2317-1G>C	OXR1	Single nucleotide variant (splice acceptor variant)	Congenital cerebellar hypoplasia	GLikely pathogenic
Select item 549728	NM_001005273.3(CHD3):c.1369G>T (p.Glu457Ter)	CHD3 (E457* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability	GLikely pathogenic
Select item 549729	NM_001005273.3(CHD3):c.2657A>G (p.His886Arg)	CHD3 (H886R +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome	GLikely pathogenic
Select item 549730	NM_001005273.3(CHD3):c.2745G>T (p.Leu915Phe)	CHD3 (L915F +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome	GPathogenic
Select item 549731	NM_001005273.3(CHD3):c.2761G>A (p.Glu921Lys)	CHD3 (E921K +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome	GLikely pathogenic
Select item 549732	NM_001005273.3(CHD3):c.2882G>A (p.Gly961Glu)	CHD3 (G961E +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome	GLikely pathogenic
Select item 520977	NM_001005273.3(CHD3):c.2953C>T (p.Arg985Trp)	CHD3 (R1044W +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome +1 more	GPathogenic/Likely pathogenic
Select item 549733	NM_001005273.3(CHD3):c.2954G>A (p.Arg985Gln)	CHD3 (R985Q +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome +1 more	GPathogenic
Select item 549734	NM_001005273.3(CHD3):c.3322GGT[1] (p.Gly1109del)	CHD3 (G1109del +1 more)	Microsatellite (inframe_deletion)	Snijders Blok-Campeau syndrome	GUncertain significance
Select item 549735	NM_001005273.3(CHD3):c.3357_3358delinsTC (p.Asp1120His)	CHD3 (D1120H +1 more)	Indel (missense variant)	Snijders Blok-Campeau syndrome	GLikely pathogenic
Select item 549736	NM_001005273.3(CHD3):c.3362G>C (p.Arg1121Pro)	CHD3 (R1121P +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome +1 more	GPathogenic/Likely pathogenic
Select item 549737	NM_001005273.3(CHD3):c.3407C>T (p.Thr1136Ile)	CHD3 (T1136I +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome	GLikely pathogenic
Select item 549738	NM_001005273.3(CHD3):c.3472T>C (p.Trp1158Arg)	CHD3 (W1158R +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome	GPathogenic
Select item 549739	NM_001005273.3(CHD3):c.3477C>A (p.Asn1159Lys)	CHD3 (N1159K +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome +2 more	GPathogenic/Likely pathogenic
Select item 549740	NM_001005273.3(CHD3):c.3482A>G (p.His1161Arg)	CHD3 (H1161R +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome	GLikely pathogenic
Select item 549741	NM_001005273.3(CHD3):c.3505C>T (p.Arg1169Trp)	CHD3 (R1169W +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome +2 more	GPathogenic
Select item 549742	NM_001005273.3(CHD3):c.3512A>G (p.His1171Arg)	CHD3 (H1171R +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome	GLikely pathogenic
Select item 549743	NM_001005273.3(CHD3):c.3515G>A (p.Arg1172Gln)	CHD3 (R1172Q +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome +1 more	GPathogenic/Likely pathogenic
Select item 549744	NM_001005273.3(CHD3):c.3560G>C (p.Arg1187Pro)	CHD3 (R1187P +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome	GConflicting classifications of pathogenicity
Select item 549745	NM_001005273.3(CHD3):c.3707T>C (p.Leu1236Pro)	CHD3 (L1236P +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome	GLikely pathogenic
Select item 549746	NM_001005273.3(CHD3):c.4025G>A (p.Arg1342Gln)	CHD3 (R1342Q +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome +2 more	GLikely pathogenic
Select item 549747	NM_001005273.3(CHD3):c.4073-2A>G	CHD3	Single nucleotide variant (splice acceptor variant)	Intellectual disability	GLikely pathogenic
Select item 549748	NM_001005273.3(CHD3):c.5642G>T (p.Arg1881Leu)	CHD3 (R1881L +2 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome	GLikely pathogenic
Select item 549749	NM_001005273.3(CHD3):c.5802_5803insGAAC (p.Phe1935fs)	CHD3 (F1994fs +2 more)	Insertion (frameshift variant)	Intellectual disability	GLikely pathogenic

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Items: 27