"Ambry Genetics"[submitter] AND "C3orf52"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2377667	NM_024616.3(C3orf52):c.*96T>C	C3orf52 (L166S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2205935	NM_024616.3(C3orf52):c.*147G>A	C3orf52 (R183Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2377668	NM_024616.3(C3orf52):c.*188A>G	C3orf52 (S197G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2403946	NM_024616.3(C3orf52):c.*219A>G	C3orf52 (K207R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2361096	NM_152785.5(GCSAM):c.493C>T (p.Arg165Cys)	GCSAM, C3orf52 (R165C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606779	NM_152785.5(GCSAM):c.238T>G (p.Tyr80Asp)	C3orf52, GCSAM (Y82D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381938	NM_152785.5(GCSAM):c.211C>A (p.Pro71Thr)	C3orf52, GCSAM (P56T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621891	NM_152785.5(GCSAM):c.150A>T (p.Lys50Asn)	GCSAM, C3orf52 (K52N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600747	NM_152785.5(GCSAM):c.118G>A (p.Ala40Thr)	C3orf52, GCSAM (A40T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance