"Ambry Genetics"[submitter] AND "CSAD"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2594073	NM_001244705.2(CSAD):c.1463G>A (p.Arg488Gln)	CSAD (R515Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256126	NM_001244705.2(CSAD):c.1447C>T (p.Leu483Phe)	CSAD (L250F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382058	NM_001244705.2(CSAD):c.1444C>T (p.Leu482Phe)	CSAD (L509F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509440	NM_001244705.2(CSAD):c.1441T>A (p.Phe481Ile)	CSAD (F508I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240023	NM_001244705.2(CSAD):c.1405G>C (p.Val469Leu)	CSAD (V496L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314379	NM_001244705.2(CSAD):c.1345G>A (p.Gly449Ser)	CSAD (G476S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512090	NM_001244705.2(CSAD):c.1325A>G (p.Lys442Arg)	CSAD (K469R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385668	NM_001244705.2(CSAD):c.1319T>G (p.Val440Gly)	CSAD (V467G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299292	NM_001244705.2(CSAD):c.1306A>G (p.Lys436Glu)	CSAD (K436E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341003	NM_001244705.2(CSAD):c.1256C>G (p.Pro419Arg)	CSAD (P446R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276505	NM_001244705.2(CSAD):c.1255C>A (p.Pro419Thr)	CSAD (P446T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399238	NM_001244705.2(CSAD):c.1252C>T (p.Pro418Ser)	CSAD (P185S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317145	NM_001244705.2(CSAD):c.1250T>A (p.Val417Glu)	CSAD (V417E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604867	NM_001244705.2(CSAD):c.1139G>A (p.Arg380His)	CSAD (R147H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281021	NM_001244705.2(CSAD):c.986A>G (p.His329Arg)	CSAD (H329R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225800	NM_001244705.2(CSAD):c.980G>A (p.Arg327His)	CSAD (R327H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227977	NM_001244705.2(CSAD):c.965C>T (p.Ser322Leu)	CSAD (S349L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296338	NM_001244705.2(CSAD):c.907C>A (p.Pro303Thr)	CSAD (P303T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409890	NM_001244705.2(CSAD):c.691G>A (p.Ala231Thr)	CSAD (A231T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400789	NM_001244705.2(CSAD):c.406C>T (p.Arg136Trp)	CSAD (R136W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280481	NM_001244705.2(CSAD):c.334A>G (p.Asn112Asp)	CSAD (N139D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317803	NM_001244705.2(CSAD):c.254G>A (p.Gly85Asp)	CSAD (G112D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365433	NM_001244705.2(CSAD):c.-90-660A>G	CSAD (I3V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 23