"Ambry Genetics"[submitter] AND "ASZ1"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2411577	NM_130768.3(ASZ1):c.1288C>T (p.Arg430Trp)	ASZ1 (R222W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2412373	NM_130768.3(ASZ1):c.1148T>G (p.Val383Gly)	ASZ1 (V175G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211561	NM_130768.3(ASZ1):c.1091A>G (p.Asn364Ser)	ASZ1 (N156S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611406	NM_130768.3(ASZ1):c.1056T>C (p.Ser352=)	ASZ1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2339722	NM_130768.3(ASZ1):c.1048G>A (p.Glu350Lys)	ASZ1 (E142K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286967	NM_130768.3(ASZ1):c.922A>G (p.Met308Val)	ASZ1 (M100V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557402	NM_130768.3(ASZ1):c.754G>A (p.Asp252Asn)	ASZ1 (D252N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268996	NM_130768.3(ASZ1):c.727G>C (p.Gly243Arg)	ASZ1 (G243R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363120	NM_130768.3(ASZ1):c.662T>C (p.Ile221Thr)	ASZ1 (I13T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391849	NM_130768.3(ASZ1):c.460A>G (p.Met154Val)	ASZ1 (M154V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2515331	NM_130768.3(ASZ1):c.457A>G (p.Ile153Val)	ASZ1 (I153V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2535609	NM_130768.3(ASZ1):c.410C>T (p.Ser137Leu)	ASZ1 (S137L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2261584	NM_130768.3(ASZ1):c.301A>G (p.Arg101Gly)	ASZ1 (R101G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2380629	NM_130768.3(ASZ1):c.272A>G (p.Asn91Ser)	ASZ1 (N91S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2479290	NM_130768.3(ASZ1):c.266T>C (p.Val89Ala)	ASZ1 (V89A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2301272	NM_130768.3(ASZ1):c.189G>C (p.Gln63His)	ASZ1 (Q63H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2340122	NM_130768.3(ASZ1):c.64G>C (p.Asp22His)	ASZ1 (D22H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2212329	NM_130768.3(ASZ1):c.64G>T (p.Asp22Tyr)	ASZ1 (D22Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2618166	NM_130768.3(ASZ1):c.55G>C (p.Glu19Gln)	ASZ1 (E19Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2560568	NM_130768.3(ASZ1):c.16C>G (p.Leu6Val)	ASZ1 (L6V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2242472	NM_130768.3(ASZ1):c.14C>G (p.Ala5Gly)	ASZ1 (A5G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2398345	NM_130768.3(ASZ1):c.8C>G (p.Ala3Gly)	ASZ1 (A3G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 22