"CHAMP1-related syndrome"[Disease/phenotype] AND "GenomeConnect - Simo - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 217909	NM_032436.4(CHAMP1):c.542_543del (p.Ser181fs)	CHAMP1 (S181fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 827777	NM_032436.4(CHAMP1):c.661dup (p.Thr221fs)	CHAMP1 (T221fs)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 40	GLikely pathogenic
Select item 503867	NM_032436.4(CHAMP1):c.730delinsGC (p.Ser244fs)	CHAMP1 (S244fs)	Indel (frameshift variant)	not provided	GPathogenic
Select item 210049	NM_032436.4(CHAMP1):c.1002G>A (p.Trp334Ter)	CHAMP1 (W334*)	Single nucleotide variant (nonsense)	CHAMP1-related syndrome +1 more	GPathogenic
Select item 210050	NM_032436.4(CHAMP1):c.1489C>T (p.Arg497Ter)	CHAMP1, LINC01054 (R497*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic
Select item 217907	NM_032436.4(CHAMP1):c.1544G>A (p.Trp515Ter)	CHAMP1 (W515*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 984804	NM_032436.4(CHAMP1):c.1657G>T (p.Glu553Ter)	CHAMP1 (E553*)	Single nucleotide variant (nonsense)	CHAMP1-related syndrome	GPathogenic
Select item 807058	NM_032436.4(CHAMP1):c.1680_1683dup (p.Glu562delinsProTer)	CHAMP1	Duplication (nonsense)	not provided	GLikely pathogenic
Select item 280855	NM_032436.4(CHAMP1):c.1850dup (p.Lys618fs)	CHAMP1 (K618fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 217916	NM_032436.4(CHAMP1):c.1969C>T (p.Gln657Ter)	CHAMP1 (Q657*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 523879	NM_032436.4(CHAMP1):c.2127T>G (p.Tyr709Ter)	CHAMP1 (Y709*)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 984847	NM_032436.4(CHAMP1):c.2279A>G (p.His760Arg)	CHAMP1 (H760R)	Single nucleotide variant (missense variant)	CHAMP1-related disorder +1 more	GUncertain significance
Select item 984753	GRCh37/hg19 13q34(chr13:114893728-115093115)x1	CDC16, CHAMP1 +2 more	Copy number loss	CHAMP1-related syndrome	GPathogenic