ClinVar for Gene (Select 763) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3336515	NC_000016.9:g.(?_87921618)_(87938511_87960353)del	CA5A	Deletion	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GPathogenic
Select item 3262588	NM_001739.2(CA5A):c.607A>G (p.Ile203Val)	CA5A (I203V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3262587	NM_001739.2(CA5A):c.774+4A>G	CA5A	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3262586	NM_001739.2(CA5A):c.419G>C (p.Gly140Ala)	CA5A (G140A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3262585	NM_001739.2(CA5A):c.776T>C (p.Leu259Pro)	CA5A (L259P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3243615	NC_000016.9:g.(?_87636753)_(88808850_?)del	BANP, CA5A +13 more	Deletion	not provided	GUncertain significance
Select item 3243528	NC_000016.9:g.(?_87677844)_(87970056_?)dup	CA5A, JPH3 +2 more	Duplication	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GUncertain significance
Select item 3243526	NC_000016.9:g.(?_87969895)_(87970056_?)del	CA5A	Deletion	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GPathogenic
Select item 3243328	NC_000016.9:g.(?_87921735)_(89484776_?)del	ACSF3, ANKRD11 +21 more	Deletion	KBG syndrome	GPathogenic
Select item 3242307	GRCh37/hg19 16q23.3-24.3(chr16:82865402-90163542)x3	ACSF3, ADAD2 +87 more	Copy number gain	not provided	GPathogenic
Select item 3136135	NM_001739.2(CA5A):c.725C>T (p.Ser242Leu)	CA5A (S242L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3136134	NM_001739.2(CA5A):c.638G>A (p.Arg213His)	CA5A (R213H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3136133	NM_001739.2(CA5A):c.45G>T (p.Leu15Phe)	CA5A (L15F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3136132	NM_001739.2(CA5A):c.275G>A (p.Cys92Tyr)	CA5A (C92Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3136131	NM_001739.2(CA5A):c.158C>T (p.Thr53Met)	CA5A (T53M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3042135	NM_001739.2(CA5A):c.618+7T>G	CA5A	Single nucleotide variant (intron variant)	CA5A-related disorder	GLikely benign
Select item 3033707	NM_001739.2(CA5A):c.*10G>A	CA5A	Single nucleotide variant (3 prime UTR variant +2 more)	CA5A-related disorder	GLikely benign
Select item 3024606	GRCh37/hg19 16q24.2-24.3(chr16:87866576-89424113)x1	ACSF3, ANKRD11 +22 more	Copy number loss	not provided	GPathogenic
Select item 3021799	NM_001739.2(CA5A):c.159G>A (p.Thr53=)	CA5A	Single nucleotide variant (synonymous variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GLikely benign
Select item 2992435	NM_001739.2(CA5A):c.775-10T>A	CA5A	Single nucleotide variant (intron variant)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GLikely benign
Select item 2918254	NM_001739.2(CA5A):c.868C>T (p.Arg290Trp)	CA5A (R290W)	Single nucleotide variant (missense variant +2 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GUncertain significance
Select item 2887354	NM_001739.2(CA5A):c.143-16G>A	CA5A	Single nucleotide variant (intron variant)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GLikely benign
Select item 2878343	NM_001739.2(CA5A):c.555+19G>A	CA5A	Single nucleotide variant (intron variant)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GLikely benign
Select item 2855898	NM_001739.2(CA5A):c.603G>A (p.Pro201=)	CA5A	Single nucleotide variant (synonymous variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GLikely benign
Select item 2836075	NM_001739.2(CA5A):c.555+16G>T	CA5A	Single nucleotide variant (intron variant)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GLikely benign
Select item 2817977	NM_001739.2(CA5A):c.618+16G>C	CA5A	Single nucleotide variant (intron variant)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GLikely benign
Select item 2733739	NM_001739.2(CA5A):c.81G>A (p.Ser27=)	CA5A	Single nucleotide variant (synonymous variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GLikely benign
Select item 2727794	NM_001739.2(CA5A):c.279G>A (p.Leu93=)	CA5A	Single nucleotide variant (synonymous variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GLikely benign
Select item 2727633	NM_001739.2(CA5A):c.447G>A (p.Ala149=)	CA5A	Single nucleotide variant (synonymous variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GLikely benign
Select item 2713658	NM_001739.2(CA5A):c.734G>A (p.Trp245Ter)	CA5A (W245*)	Single nucleotide variant (nonsense +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GUncertain significance
Select item 2708180	NM_001739.2(CA5A):c.249C>G (p.Leu83=)	CA5A	Single nucleotide variant (synonymous variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GLikely benign
Select item 2671781	NM_001367225.1(CA5A):c.899A>G (p.His300Arg)	CA5A (H300R)	Single nucleotide variant (missense variant)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GUncertain significance
Select item 2631113	NM_001739.2(CA5A):c.475T>C (p.Trp159Arg)	CA5A (W159R)	Single nucleotide variant (missense variant +1 more)	CA5A-related disorder	GUncertain significance
Select item 2623516	NM_001739.2(CA5A):c.130A>G (p.Ser44Gly)	CA5A (S44G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2620842	NM_001739.2(CA5A):c.640C>G (p.Pro214Ala)	CA5A (P214A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2550852	NM_001739.2(CA5A):c.691G>A (p.Ala231Thr)	CA5A (A231T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2503796	NM_001739.2(CA5A):c.618+1G>T	CA5A	Single nucleotide variant (splice donor variant)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GLikely pathogenic
Select item 2503467	Single allele	LOC121587566, LOC121587567 +218 more	Deletion	KBG syndrome	GPathogenic
Select item 2498685	GRCh37/hg19 16q24.1-24.2(chr16:86544176-88110267)x1	BANP, C16orf95 +12 more	Copy number loss	not provided	GPathogenic
Select item 2481161	NM_001739.2(CA5A):c.775C>G (p.Leu259Val)	CA5A (L259V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2457925	NM_001739.2(CA5A):c.109C>T (p.Arg37Cys)	CA5A (R37C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2439622	NM_001739.2(CA5A):c.83T>A (p.Met28Lys)	CA5A (M28K)	Single nucleotide variant (missense variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GUncertain significance
Select item 2424226	NC_000016.9:g.(?_87935498)_(87938530_?)dup	CA5A	Duplication	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GLikely pathogenic
Select item 2424225	NC_000016.9:g.(?_87960334)_(87960571_?)del	CA5A	Deletion	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GUncertain significance
Select item 2423762	NC_000016.9:g.(?_87677844)_(88505740_?)dup	BANP, CA5A +4 more	Duplication	not provided	GUncertain significance
Select item 2422362	NC_000016.9:g.(?_87636753)_(90109753_?)dup	DPEP1, DEF8 +45 more	Duplication	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative +2 more	GUncertain significance
Select item 2420400	NM_001739.2(CA5A):c.514G>A (p.Val172Met)	CA5A (V172M)	Single nucleotide variant (missense variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GUncertain significance
Select item 2387742	NM_001739.2(CA5A):c.881C>T (p.Ala294Val)	CA5A (A294V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2364546	NM_001739.2(CA5A):c.616A>G (p.Lys206Glu)	CA5A (K206E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2355447	NM_001739.2(CA5A):c.41T>C (p.Phe14Ser)	CA5A (F14S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2303242	NM_001739.2(CA5A):c.613C>G (p.His205Asp)	CA5A (H205D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2264825	NM_001739.2(CA5A):c.57G>A (p.Met19Ile)	CA5A (M19I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2261586	NM_001739.2(CA5A):c.710C>G (p.Pro237Arg)	CA5A (P237R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2249884	NM_001739.2(CA5A):c.181G>A (p.Gly61Ser)	CA5A (G61S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2233706	NM_001739.2(CA5A):c.181G>T (p.Gly61Cys)	CA5A (G61C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2233512	NM_001739.2(CA5A):c.196C>T (p.Pro66Ser)	CA5A (P66S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2220708	NM_001739.2(CA5A):c.844C>T (p.Arg282Cys)	CA5A (R282C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2214808	NM_001739.2(CA5A):c.253G>A (p.Val85Ile)	CA5A (V85I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2201239	NM_001739.2(CA5A):c.283A>G (p.Ile95Val)	CA5A (I95V)	Single nucleotide variant (missense variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GUncertain significance
Select item 2191783	NM_001739.2(CA5A):c.720C>T (p.Thr240=)	CA5A	Single nucleotide variant (synonymous variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GLikely benign
Select item 2185268	NM_001739.2(CA5A):c.711G>A (p.Pro237=)	CA5A	Single nucleotide variant (synonymous variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GLikely benign
Select item 2177425	NM_001739.2(CA5A):c.322G>A (p.Asp108Asn)	CA5A (D108N)	Single nucleotide variant (non-coding transcript variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GUncertain significance
Select item 2173909	NM_001739.2(CA5A):c.917A>G (p.Ter306Trp)	CA5A	Single nucleotide variant (stop lost +2 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GUncertain significance
Select item 2173224	NM_001739.2(CA5A):c.523A>G (p.Asn175Asp)	CA5A (N175D)	Single nucleotide variant (missense variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GUncertain significance
Select item 2168334	NM_001739.2(CA5A):c.732C>G (p.Thr244=)	CA5A	Single nucleotide variant (synonymous variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GLikely benign
Select item 2166231	NM_001739.2(CA5A):c.558C>T (p.Leu186=)	CA5A	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 2161429	NM_001739.2(CA5A):c.647A>C (p.Asp216Ala)	CA5A (D216A)	Single nucleotide variant (missense variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GUncertain significance
Select item 2156381	NM_001739.2(CA5A):c.699G>A (p.Ser233=)	CA5A	Single nucleotide variant (synonymous variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GLikely benign
Select item 2156176	NM_001739.2(CA5A):c.787C>T (p.Arg263Cys)	CA5A (R263C)	Single nucleotide variant (missense variant +2 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GUncertain significance
Select item 2152272	NM_001739.2(CA5A):c.165G>A (p.Pro55=)	CA5A	Single nucleotide variant (synonymous variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GLikely benign
Select item 2147842	NM_001739.2(CA5A):c.710C>T (p.Pro237Leu)	CA5A (P237L)	Single nucleotide variant (missense variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GUncertain significance
Select item 2139845	NM_001739.2(CA5A):c.643T>A (p.Phe215Ile)	CA5A (F215I)	Single nucleotide variant (missense variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency +1 more	GUncertain significance
Select item 2139493	NM_001739.2(CA5A):c.178G>C (p.Gly60Arg)	CA5A (G60R)	Single nucleotide variant (missense variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GLikely benign
Select item 2088957	NM_001739.2(CA5A):c.601C>A (p.Pro201Thr)	CA5A (P201T)	Single nucleotide variant (missense variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GUncertain significance
Select item 2083497	NM_001739.2(CA5A):c.867C>T (p.Asn289=)	CA5A	Single nucleotide variant (synonymous variant +2 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GLikely benign
Select item 2079656	NM_001739.2(CA5A):c.774+13C>T	CA5A	Single nucleotide variant (intron variant)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GLikely benign
Select item 2067736	NM_001739.2(CA5A):c.618+10A>G	CA5A	Single nucleotide variant (intron variant)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GLikely benign
Select item 2067315	NM_001739.2(CA5A):c.77G>A (p.Arg26His)	CA5A (R26H)	Single nucleotide variant (missense variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency +1 more	GUncertain significance
Select item 2063660	NM_001739.2(CA5A):c.636G>A (p.Met212Ile)	CA5A (M212I)	Single nucleotide variant (missense variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GUncertain significance
Select item 2059153	NM_001739.2(CA5A):c.429C>T (p.His143=)	CA5A	Single nucleotide variant (synonymous variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency +1 more	GLikely benign
Select item 2057696	NM_001739.2(CA5A):c.459+11G>A	CA5A	Single nucleotide variant (intron variant)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GLikely benign
Select item 2057694	NM_001739.2(CA5A):c.664C>T (p.Pro222Ser)	CA5A (P222S)	Single nucleotide variant (missense variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GUncertain significance
Select item 2053778	NM_001739.2(CA5A):c.497A>G (p.Asn166Ser)	CA5A (N166S)	Single nucleotide variant (missense variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2053672	NM_001739.2(CA5A):c.510T>A (p.Ala170=)	CA5A	Single nucleotide variant (synonymous variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GLikely benign
Select item 2041789	NM_001739.2(CA5A):c.460-14C>A	CA5A	Single nucleotide variant (intron variant)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GBenign
Select item 2040418	NM_001739.2(CA5A):c.459+7A>T	CA5A	Single nucleotide variant (intron variant)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GLikely benign
Select item 1991556	NM_001739.2(CA5A):c.852T>G (p.Leu284=)	CA5A	Single nucleotide variant (synonymous variant +2 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GLikely benign
Select item 1981637	NM_001739.2(CA5A):c.513C>T (p.Val171=)	CA5A	Single nucleotide variant (synonymous variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GLikely benign
Select item 1979581	NM_001739.2(CA5A):c.885C>T (p.Ser295=)	CA5A	Single nucleotide variant (non-coding transcript variant +2 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GLikely benign
Select item 1964306	NM_001739.2(CA5A):c.185C>T (p.Thr62Ile)	CA5A (T62I)	Single nucleotide variant (missense variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GUncertain significance
Select item 1956686	NM_001739.2(CA5A):c.683G>A (p.Trp228Ter)	CA5A (W228*)	Single nucleotide variant (nonsense +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GPathogenic
Select item 1950628	NM_001739.2(CA5A):c.255C>G (p.Val85=)	CA5A	Single nucleotide variant (synonymous variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GLikely benign
Select item 1950108	NM_001739.2(CA5A):c.387T>G (p.Phe129Leu)	CA5A (F129L)	Single nucleotide variant (missense variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GUncertain significance
Select item 1948663	NM_001739.2(CA5A):c.149C>A (p.Pro50Gln)	CA5A (P50Q)	Single nucleotide variant (missense variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency +1 more	GUncertain significance
Select item 1940348	NM_001739.2(CA5A):c.774G>C (p.Gln258His)	CA5A (Q258H)	Single nucleotide variant (non-coding transcript variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GUncertain significance
Select item 1932943	NM_001739.2(CA5A):c.187C>T (p.Arg63Trp)	CA5A (R63W)	Single nucleotide variant (missense variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GUncertain significance
Select item 1929769	NM_001739.2(CA5A):c.508G>T (p.Ala170Ser)	CA5A (A170S)	Single nucleotide variant (missense variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GUncertain significance
Select item 1919855	NM_001739.2(CA5A):c.782C>T (p.Ala261Val)	CA5A (A261V)	Single nucleotide variant (missense variant +2 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency +1 more	GUncertain significance
Select item 1879345	NM_001739.2(CA5A):c.340+2435T>C	CA5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1807570	GRCh37/hg19 16q24.2(chr16:87782799-88150144)x1	KLHDC4, CA5A +2 more	Copy number loss	not provided	GUncertain significance

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