"GeneDx"[submitter] AND "CANT1"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 379568	NM_001159773.2(CANT1):c.1172G>A (p.Gly391Glu)	CANT1 (G391E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 325696	NM_001159773.2(CANT1):c.1056C>T (p.Asn352=)	CANT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1 +1 more	GBenign
Select item 31013	NM_001159773.2(CANT1):c.902_906dup (p.Ser303fs)	CANT1 (S303fs)	Microsatellite (frameshift variant)	Desbuquois dysplasia 1 +1 more	GPathogenic/Likely pathogenic
Select item 1282197	NM_001159773.2(CANT1):c.836-202C>G	CANT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 452497	NM_001159773.2(CANT1):c.734C>T (p.Pro245Leu)	CANT1 (P245L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 31018	NM_001159773.2(CANT1):c.676G>A (p.Val226Met)	CANT1 (V226M)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1 +1 more	GPathogenic/Likely pathogenic
Select item 1237752	NM_001159773.2(CANT1):c.632-121G>T	CANT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 31015	NM_001159773.2(CANT1):c.277_278del (p.Leu93fs)	CANT1 (L93fs)	Deletion (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 31014	NM_001159773.2(CANT1):c.228dup (p.Trp77fs)	CANT1 (W77fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 195398	NM_001159773.2(CANT1):c.159T>C (p.Ala53=)	CANT1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 279729	NM_001159773.2(CANT1):c.56G>A (p.Arg19Gln)	CANT1 (R19Q)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1 +1 more	GConflicting classifications of pathogenicity
Select item 325712	NM_001159773.2(CANT1):c.-23+25G>A	CANT1	Single nucleotide variant (5 prime UTR variant +1 more)	Desbuquois dysplasia 1 +1 more	GBenign
Select item 1181681	NM_001159773.2(CANT1):c.-147+53A>G	CANT1, LOC130061867	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 325721	NM_001159773.2(CANT1):c.-239A>G	CANT1, LOC130061867	Single nucleotide variant (5 prime UTR variant)	Desbuquois dysplasia 1 +1 more	GBenign
Select item 1289521	NC_000017.11:g.79009890dup	CANT1	Duplication	not provided	GBenign
Select item 1179247	NC_000017.11:g.79009891G>T	CANT1	Single nucleotide variant	not provided	GBenign
Select item 1254688	NC_000017.11:g.79009897T>G	CANT1	Single nucleotide variant	not provided	GBenign