"GeneDx"[submitter] AND "CA5A"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 379955	NM_001739.2(CA5A):c.807A>T (p.Ala269=)	CA5A	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign
Select item 962096	NM_001739.2(CA5A):c.767_774+13del	CA5A	Deletion (splice donor variant)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency +2 more	GConflicting classifications of pathogenicity
Select item 559305	NM_001739.2(CA5A):c.749A>G (p.Glu250Gly)	CA5A (E250G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 388645	NM_001739.2(CA5A):c.721G>A (p.Glu241Lys)	CA5A (E241K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 679537	NM_001739.2(CA5A):c.720C>A (p.Thr240=)	CA5A	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 127087	NM_001739.2(CA5A):c.697T>C (p.Ser233Pro)	CA5A (S233P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3372166	NM_001739.2(CA5A):c.692C>G (p.Ala231Gly)	CA5A (A231G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3370909	NM_001739.2(CA5A):c.686C>T (p.Thr229Ile)	CA5A (T229I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 382589	NM_001739.2(CA5A):c.645C>T (p.Phe215=)	CA5A	Single nucleotide variant (synonymous variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency +2 more	GBenign
Select item 1041319	NM_001739.2(CA5A):c.575C>T (p.Thr192Met)	CA5A (T192M)	Single nucleotide variant (missense variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency +1 more	GUncertain significance
Select item 127088	NM_001739.2(CA5A):c.555G>A (p.Lys185=)	CA5A	Single nucleotide variant (synonymous variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1494683	NM_001739.2(CA5A):c.544G>A (p.Val182Met)	CA5A (V182M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 946825	NM_001739.2(CA5A):c.473A>C (p.His158Pro)	CA5A (H158P)	Single nucleotide variant (missense variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency +1 more	GUncertain significance
Select item 379954	NM_001739.2(CA5A):c.453C>T (p.Pro151=)	CA5A	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 517031	NM_001739.2(CA5A):c.340+20C>G	CA5A	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1203736	NM_001739.2(CA5A):c.287G>C (p.Trp96Ser)	CA5A (W96S)	Single nucleotide variant (missense variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency +2 more	GUncertain significance
Select item 515104	NM_001739.2(CA5A):c.219C>T (p.Asp73=)	CA5A	Single nucleotide variant (synonymous variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency +1 more	GLikely benign
Select item 379947	NM_001739.2(CA5A):c.143-9T>A	CA5A	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 380536	NM_001739.2(CA5A):c.138C>A (p.Asn46Lys)	CA5A (N46K)	Single nucleotide variant (missense variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency +2 more	GBenign
Select item 380517	NM_001739.2(CA5A):c.135T>A (p.Asn45Lys)	CA5A (N45K)	Single nucleotide variant (missense variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency +2 more	GBenign
Select item 253753	GRCh37/hg19 16q24.2-24.3(chr16:87687199-89304429)x3	ACSF3, APRT +23 more	Copy number gain	See cases	GUncertain significance
Select item 253554	GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3	ACSF3, ADAD2 +127 more	Copy number gain	See cases	GPathogenic

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Items: 22