"Ambry Genetics"[submitter] AND "CHURC1"[gene] - ClinVar - NCBI

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

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2277559	NM_145165.3(CHURC1):c.28G>A (p.Glu10Lys)	CHURC1, CHURC1-FNTB (E10K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286630	NM_145165.3(CHURC1):c.35C>T (p.Ser12Leu)	CHURC1, CHURC1-FNTB (S12L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267298	NM_001386928.1(CHURC1):c.250T>C (p.Tyr84His)	CHURC1, CHURC1-FNTB (Y84H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291162	NM_001386928.1(CHURC1):c.258G>A (p.Met86Ile)	CHURC1, CHURC1-FNTB (A63T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403674	NM_001386928.1(CHURC1):c.274G>A (p.Gly92Ser)	CHURC1, CHURC1-FNTB (G92S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540953	NM_001386928.1(CHURC1):c.283G>A (p.Glu95Lys)	CHURC1, CHURC1-FNTB (E96K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360986	NM_001386928.1(CHURC1):c.295A>G (p.Ser99Gly)	CHURC1, CHURC1-FNTB (S99G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144862	NM_001386928.1(CHURC1):c.296G>C (p.Ser99Thr)	CHURC1, CHURC1-FNTB (Q75H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510954	NM_001386928.1(CHURC1):c.317G>A (p.Arg106Gln)	CHURC1, CHURC1-FNTB (R106Q +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance