"Ambry Genetics"[submitter] AND "CSDE1"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 721068	NM_001007553.3(CSDE1):c.2350-5C>A	CSDE1	Single nucleotide variant (intron variant)	CSDE1-related condition +2 more	GBenign/Likely benign
Select item 2307499	NM_001007553.3(CSDE1):c.2350-6C>A	CSDE1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2242244	NM_001007553.3(CSDE1):c.1988C>T (p.Ala663Val)	CSDE1 (A632V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472248	NM_001007553.3(CSDE1):c.1922A>G (p.Asn641Ser)	CSDE1 (N641S +3 more)	Single nucleotide variant (missense variant)	CSDE1-related condition +1 more	GUncertain significance
Select item 2312713	NM_001007553.3(CSDE1):c.1909G>A (p.Val637Ile)	CSDE1 (V683I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515366	NM_001007553.3(CSDE1):c.1705G>A (p.Gly569Ser)	CSDE1 (G569S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253402	NM_001007553.3(CSDE1):c.1525C>G (p.Leu509Val)	CSDE1 (L478V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258131	NM_001007553.3(CSDE1):c.1483G>A (p.Asp495Asn)	CSDE1 (D495N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371492	NM_001007553.3(CSDE1):c.1319A>G (p.Asn440Ser)	CSDE1 (N440S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316945	NM_001007553.3(CSDE1):c.1245G>T (p.Lys415Asn)	CSDE1 (K384N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455331	NM_001007553.3(CSDE1):c.944A>C (p.His315Pro)	CSDE1 (H330P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2404457	NM_001007553.3(CSDE1):c.944A>G (p.His315Arg)	CSDE1 (H330R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534155	NM_001007553.3(CSDE1):c.529A>G (p.Met177Val)	CSDE1 (M177V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2618350	NM_001007553.3(CSDE1):c.359C>T (p.Pro120Leu)	CSDE1 (P166L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2295089	NM_001007553.3(CSDE1):c.319G>A (p.Ala107Thr)	CSDE1 (A107T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2605158	NM_001007553.3(CSDE1):c.304G>A (p.Gly102Arg)	CSDE1 (G102R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329101	NM_001007553.3(CSDE1):c.192A>C (p.Lys64Asn)	CSDE1 (K110N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318131	NM_001007553.3(CSDE1):c.32A>G (p.Asn11Ser)	CSDE1 (N11S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229894	NM_001007553.3(CSDE1):c.1-1661G>C	CSDE1 (K38N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance