"Fulgent Genetics, Fulgent Genetics"[submitter] AND "CD151"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1223149	NM_004357.5(CD151):c.-7-20C>T	CD151	Single nucleotide variant (intron variant)	Epidermolysis bullosa simplex 7, with nephropathy and deafness +2 more	GLikely benign
Select item 1408948	NM_004357.5(CD151):c.16G>A (p.Glu6Lys)	CD151 (E6K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1428000	NM_004357.5(CD151):c.241G>A (p.Ala81Thr)	CD151 (A81T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1640785	NM_004357.5(CD151):c.276+11C>T	CD151	Single nucleotide variant (intron variant)	Epidermolysis bullosa simplex 7, with nephropathy and deafness +2 more	GLikely benign
Select item 1431457	NM_004357.5(CD151):c.295A>C (p.Ile99Leu)	CD151 (I99L)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 7, with nephropathy and deafness +3 more	GUncertain significance
Select item 1355643	NM_004357.5(CD151):c.328C>G (p.Leu110Val)	CD151 (L110V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1547196	NM_004357.5(CD151):c.456+9G>A	CD151	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1600788	NM_004357.5(CD151):c.457-16C>T	CD151	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1639641	NM_004357.5(CD151):c.616-17C>G	CD151	Single nucleotide variant (intron variant)	Epidermolysis bullosa simplex 7, with nephropathy and deafness +2 more	GLikely benign
Select item 1247770	NM_004357.5(CD151):c.703-18A>G	CD151	Single nucleotide variant (intron variant)	Epidermolysis bullosa simplex 7, with nephropathy and deafness +2 more	GBenign/Likely benign
Select item 1663558	NM_004357.5(CD151):c.703-15C>T	CD151	Single nucleotide variant (intron variant)	RAPH BLOOD GROUP SYSTEM +2 more	GLikely benign