ClinVar for MedGen (Select 19522) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362514	NM_000574.5(CD55):c.148G>A (p.Glu50Lys)	CD55 (E50K)	Single nucleotide variant (missense variant +1 more)	Protein-losing enteropathy	GUncertain significance
Select item 3338382	NM_000574.5(CD55):c.98G>A (p.Trp33Ter)	CD55 (W33*)	Single nucleotide variant (nonsense +1 more)	Protein-losing enteropathy	GPathogenic
Select item 3064847	NM_000574.5(CD55):c.148G>T (p.Glu50Ter)	CD55 (E50*)	Single nucleotide variant (nonsense +1 more)	Protein-losing enteropathy	GPathogenic/Likely pathogenic
Select item 2500014	NM_000574.5(CD55):c.717A>G (p.Glu239=)	CD55	Single nucleotide variant (synonymous variant +1 more)	Cromer blood group system +1 more	GLikely benign
Select item 1346393	NM_000574.5(CD55):c.1081+1G>C	CD55	Single nucleotide variant (splice donor variant)	not provided +2 more	GUncertain significance
Select item 1066401	NM_000574.5(CD55):c.286+2T>G	CD55	Single nucleotide variant (splice donor variant)	not provided +2 more	GLikely pathogenic
Select item 787220	NM_000574.5(CD55):c.155G>T (p.Arg52Leu)	CD55 (R52L)	Single nucleotide variant (missense variant +1 more)	Protein-losing enteropathy +2 more	GBenign/Likely benign
Select item 598996	NM_000379.4(XDH):c.1172C>T (p.Pro391Leu)	XDH (P391L)	Single nucleotide variant (missense variant)	Protein-losing enteropathy +9 more	GUncertain significance
Select item 431763	NM_000574.5(CD55):c.287-1G>A	CD55	Single nucleotide variant (splice acceptor variant)	Protein-losing enteropathy	GPathogenic
Select item 431762	NM_000574.5(CD55):c.800G>C (p.Cys267Ser)	CD55 (C267S)	Single nucleotide variant (missense variant +1 more)	Protein-losing enteropathy	GPathogenic
Select item 431761	NM_000574.5(CD55):c.149_150delinsCCTT (p.Glu50fs)	CD55 (E50fs)	Indel (frameshift variant +1 more)	Protein-losing enteropathy	GPathogenic
Select item 431760	NM_000574.5(CD55):c.110del (p.Gly37fs)	CD55 (G37fs)	Deletion (frameshift variant +1 more)	Protein-losing enteropathy	GPathogenic
Select item 427983	NM_000574.5(CD55):c.43del (p.Leu15fs)	CD55 (L15fs)	Deletion (frameshift variant +1 more)	Protein-losing enteropathy	GPathogenic
Select item 335760	NM_000379.4(XDH):c.3647C>A (p.Pro1216His)	XDH (P1216H)	Single nucleotide variant (missense variant)	Cataract +12 more	GConflicting classifications of pathogenicity