Related gene-specific medical variations for Gene (Select 78987) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361931	NM_001077415.3(CRELD1):c.460+1G>A	CRELD1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3360571	NM_001077415.3(CRELD1):c.196dup (p.Asp66fs)	CRELD1 (D66fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 3360139	NM_001077415.3(CRELD1):c.82T>G (p.Trp28Gly)	CRELD1 (W28G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2440560	NM_001077415.3(CRELD1):c.430C>G (p.Pro144Ala)	CRELD1 (P144A)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect, susceptibility to, 2	GUncertain significance
Select item 2440559	NM_001077415.3(CRELD1):c.874T>C (p.Cys292Arg)	CRELD1 (C264R +1 more)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect, susceptibility to, 2	GUncertain significance
Select item 2440558	NM_001077415.3(CRELD1):c.913G>A (p.Asp305Asn)	CRELD1 (D277N +1 more)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect, susceptibility to, 2	GUncertain significance
Select item 1279512	NM_001077415.3(CRELD1):c.-19-244T>C	CRELD1, LOC129936145	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1259816	NM_001077415.3(CRELD1):c.-52C>T	CRELD1, LOC129936145	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 546927	NM_001077415.3(CRELD1):c.959dup (p.Cys321fs)	CRELD1 (C321fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic