Related gene-specific medical variations for Gene (Select 124583) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2439717	NM_001159773.2(CANT1):c.505G>A (p.Asp169Asn)	CANT1 (D169N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439716	NM_001159773.2(CANT1):c.799_801del (p.Asn267del)	CANT1 (N267del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2438796	NM_001159773.2(CANT1):c.675C>A (p.Tyr225Ter)	CANT1 (Y225*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
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 325720	NM_001159773.2(CANT1):c.-233C>T	CANT1, LOC130061867	Single nucleotide variant (5 prime UTR variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 325719	NM_001159773.2(CANT1):c.-202A>C	CANT1, LOC130061867	Single nucleotide variant (5 prime UTR variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 325718	NM_001159773.2(CANT1):c.-164G>A	CANT1, LOC130061867	Single nucleotide variant (5 prime UTR variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 325717	NM_001159773.2(CANT1):c.-153G>T	CANT1, LOC130061867	Single nucleotide variant (5 prime UTR variant)	Desbuquois dysplasia 1	GBenign
Select item 41426	NM_001159773.2(CANT1):c.-147+1G>A	LOC130061867, CANT1	Single nucleotide variant (splice donor variant)	Desbuquois dysplasia 1	GPathogenic