"Ambry Genetics"[submitter] AND "CD63"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2314626	NM_002905.5(RDH5):c.592A>G (p.Ile198Val)	BLOC1S1-RDH5, CD63 +1 more (I198V)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 1020654	NM_002905.5(RDH5):c.596G>A (p.Arg199Gln)	BLOC1S1-RDH5, CD63 +1 more (R199Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 2308807	NM_002905.5(RDH5):c.664C>G (p.Leu222Val)	BLOC1S1-RDH5, CD63 +1 more (L222V)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2256293	NM_002905.5(RDH5):c.715G>A (p.Gly239Arg)	BLOC1S1-RDH5, CD63 +1 more (G239R)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 962002	NM_002905.5(RDH5):c.776C>A (p.Pro259Gln)	RDH5, BLOC1S1-RDH5 +1 more (P259Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 3140645	NM_001780.6(CD63):c.565G>A (p.Glu189Lys)	CD63 (E178K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264863	NM_001780.6(CD63):c.491G>A (p.Arg164Gln)	CD63 (R164Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140644	NM_001780.6(CD63):c.388A>C (p.Asn130His)	CD63 (N48H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250444	NM_001780.6(CD63):c.366G>C (p.Gln122His)	CD63 (Q111H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383455	NM_001780.6(CD63):c.335T>C (p.Met112Thr)	CD63 (M30T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140642	NM_001780.6(CD63):c.145C>T (p.Pro49Ser)	CD63 (P26S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140641	NM_001780.6(CD63):c.109C>G (p.Leu37Val)	CD63 (L26V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance