ClinVar for MedGen (Select 816734) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25037961.	NM_001739.2(CA5A):c.618+1G>T GRCh37: Chr16:87935517 GRCh38: Chr16:87901911	CA5A		Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Likely pathogenic	criteria provided, single submitter
Select item 24396222.	NM_001739.2(CA5A):c.83T>A (p.Met28Lys) GRCh37: Chr16:87969974 GRCh38: Chr16:87936368	CA5A	M28K	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Uncertain significance (May 30, 2022)	criteria provided, single submitter
Select item 24242263.	NC_000016.9:g.(?_87935498)_(87938530_?)dup GRCh37: Chr16:87935498-87938530	CA5A		Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Likely pathogenic (Jul 21, 2022)	criteria provided, single submitter
Select item 24242254.	NC_000016.9:g.(?_87960334)_(87960571_?)del GRCh37: Chr16:87960334-87960571	CA5A		Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 24204005.	NM_001739.2(CA5A):c.514G>A (p.Val172Met) GRCh37: Chr16:87936072 GRCh38: Chr16:87902466	CA5A	V172M	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 22012396.	NM_001739.2(CA5A):c.283A>G (p.Ile95Val) GRCh37: Chr16:87960411 GRCh38: Chr16:87926805	CA5A	I95V	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 21917837.	NM_001739.2(CA5A):c.720C>T (p.Thr240=) GRCh37: Chr16:87925459 GRCh38: Chr16:87891853	CA5A		Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Likely benign (Jan 5, 2022)	criteria provided, single submitter
Select item 21852688.	NM_001739.2(CA5A):c.711G>A (p.Pro237=) GRCh37: Chr16:87925468 GRCh38: Chr16:87891862	CA5A		Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 21774259.	NM_001739.2(CA5A):c.322G>A (p.Asp108Asn) GRCh37: Chr16:87960372 GRCh38: Chr16:87926766	CA5A	D108N	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Uncertain significance (Dec 20, 2021)	criteria provided, single submitter
Select item 217390910.	NM_001739.2(CA5A):c.917A>G (p.Ter306Trp) GRCh37: Chr16:87921736 GRCh38: Chr16:87888130	CA5A		Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 217322411.	NM_001739.2(CA5A):c.523A>G (p.Asn175Asp) GRCh37: Chr16:87936063 GRCh38: Chr16:87902457	CA5A	N175D	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Uncertain significance (May 9, 2022)	criteria provided, single submitter
Select item 216833412.	NM_001739.2(CA5A):c.732C>G (p.Thr244=) GRCh37: Chr16:87925447 GRCh38: Chr16:87891841	CA5A		Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 216623113.	NM_001739.2(CA5A):c.558C>T (p.Leu186=) GRCh37: Chr16:87935578 GRCh38: Chr16:87901972	CA5A		Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency, not provided	Likely benign (Oct 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 216142914.	NM_001739.2(CA5A):c.647A>C (p.Asp216Ala) GRCh37: Chr16:87925532 GRCh38: Chr16:87891926	CA5A	D216A	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 215638115.	NM_001739.2(CA5A):c.699G>A (p.Ser233=) GRCh37: Chr16:87925480 GRCh38: Chr16:87891874	CA5A		Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Likely benign (Jun 24, 2022)	criteria provided, single submitter
Select item 215617616.	NM_001739.2(CA5A):c.787C>T (p.Arg263Cys) GRCh37: Chr16:87921866 GRCh38: Chr16:87888260	CA5A	R263C	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Uncertain significance (Jun 9, 2022)	criteria provided, single submitter
Select item 215227217.	NM_001739.2(CA5A):c.165G>A (p.Pro55=) GRCh37: Chr16:87960529 GRCh38: Chr16:87926923	CA5A		Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Likely benign (Sep 17, 2022)	criteria provided, single submitter
Select item 214784218.	NM_001739.2(CA5A):c.710C>T (p.Pro237Leu) GRCh37: Chr16:87925469 GRCh38: Chr16:87891863	CA5A	P237L	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Uncertain significance (Apr 7, 2022)	criteria provided, single submitter
Select item 213984519.	NM_001739.2(CA5A):c.643T>A (p.Phe215Ile) GRCh37: Chr16:87925536 GRCh38: Chr16:87891930	CA5A	F215I	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency, Inborn genetic diseases	Uncertain significance (Apr 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 213949320.	NM_001739.2(CA5A):c.178G>C (p.Gly60Arg) GRCh37: Chr16:87960516 GRCh38: Chr16:87926910	CA5A	G60R	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Likely benign (Aug 13, 2022)	criteria provided, single submitter
Select item 208895721.	NM_001739.2(CA5A):c.601C>A (p.Pro201Thr) GRCh37: Chr16:87935535 GRCh38: Chr16:87901929	CA5A	P201T	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 208349722.	NM_001739.2(CA5A):c.867C>T (p.Asn289=) GRCh37: Chr16:87921786 GRCh38: Chr16:87888180	CA5A		Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Likely benign (Mar 23, 2022)	criteria provided, single submitter
Select item 207965623.	NM_001739.2(CA5A):c.774+13C>T GRCh37: Chr16:87925392 GRCh38: Chr16:87891786	CA5A		Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Likely benign (Sep 20, 2022)	criteria provided, single submitter
Select item 206773624.	NM_001739.2(CA5A):c.618+10A>G GRCh37: Chr16:87935508 GRCh38: Chr16:87901902	CA5A		Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 206731525.	NM_001739.2(CA5A):c.77G>A (p.Arg26His) GRCh37: Chr16:87969980 GRCh38: Chr16:87936374	CA5A	R26H	CA5A-related condition, Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Uncertain significance (Mar 6, 2023)	criteria provided, multiple submitters, no conflicts
Select item 206366026.	NM_001739.2(CA5A):c.636G>A (p.Met212Ile) GRCh37: Chr16:87925543 GRCh38: Chr16:87891937	CA5A	M212I	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 205915327.	NM_001739.2(CA5A):c.429C>T (p.His143=) GRCh37: Chr16:87938422 GRCh38: Chr16:87904816	CA5A		Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Likely benign (Apr 2, 2022)	criteria provided, single submitter
Select item 205769628.	NM_001739.2(CA5A):c.459+11G>A GRCh37: Chr16:87938381 GRCh38: Chr16:87904775	CA5A		Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 205769429.	NM_001739.2(CA5A):c.664C>T (p.Pro222Ser) GRCh37: Chr16:87925515 GRCh38: Chr16:87891909	CA5A	P222S	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Uncertain significance (Jul 28, 2022)	criteria provided, single submitter
Select item 205377830.	NM_001739.2(CA5A):c.497A>G (p.Asn166Ser) GRCh37: Chr16:87936089 GRCh38: Chr16:87902483	CA5A	N166S	Inborn genetic diseases, Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Conflicting interpretations of pathogenicity (Dec 5, 2022)	criteria provided, conflicting interpretations
Select item 205367231.	NM_001739.2(CA5A):c.510T>A (p.Ala170=) GRCh37: Chr16:87936076 GRCh38: Chr16:87902470	CA5A		Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Likely benign (Dec 22, 2021)	criteria provided, single submitter
Select item 204178932.	NM_001739.2(CA5A):c.460-14C>A GRCh37: Chr16:87936140 GRCh38: Chr16:87902534	CA5A		Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Benign (Jul 6, 2022)	criteria provided, single submitter
Select item 204041833.	NM_001739.2(CA5A):c.459+7A>T GRCh37: Chr16:87938385 GRCh38: Chr16:87904779	CA5A		Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 199155634.	NM_001739.2(CA5A):c.852T>G (p.Leu284=) GRCh37: Chr16:87921801 GRCh38: Chr16:87888195	CA5A		Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 198163735.	NM_001739.2(CA5A):c.513C>T (p.Val171=) GRCh37: Chr16:87936073 GRCh38: Chr16:87902467	CA5A		Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Likely benign (Jul 22, 2022)	criteria provided, single submitter
Select item 197958136.	NM_001739.2(CA5A):c.885C>T (p.Ser295=) GRCh37: Chr16:87921768 GRCh38: Chr16:87888162	CA5A		Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Likely benign (Nov 23, 2021)	criteria provided, single submitter
Select item 196430637.	NM_001739.2(CA5A):c.185C>T (p.Thr62Ile) GRCh37: Chr16:87960509 GRCh38: Chr16:87926903	CA5A	T62I	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Uncertain significance (Dec 8, 2021)	criteria provided, single submitter
Select item 195668638.	NM_001739.2(CA5A):c.683G>A (p.Trp228Ter) GRCh37: Chr16:87925496 GRCh38: Chr16:87891890	CA5A	W228*	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Pathogenic (Oct 14, 2022)	criteria provided, single submitter
Select item 195062839.	NM_001739.2(CA5A):c.255C>G (p.Val85=) GRCh37: Chr16:87960439 GRCh38: Chr16:87926833	CA5A		Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Likely benign (Jul 18, 2022)	criteria provided, single submitter
Select item 195010840.	NM_001739.2(CA5A):c.387T>G (p.Phe129Leu) GRCh37: Chr16:87938464 GRCh38: Chr16:87904858	CA5A	F129L	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 194866341.	NM_001739.2(CA5A):c.149C>A (p.Pro50Gln) GRCh37: Chr16:87960545 GRCh38: Chr16:87926939	CA5A	P50Q	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency, not specified	Uncertain significance (Aug 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 194034842.	NM_001739.2(CA5A):c.774G>C (p.Gln258His) GRCh37: Chr16:87925405 GRCh38: Chr16:87891799	CA5A	Q258H	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 193294343.	NM_001739.2(CA5A):c.187C>T (p.Arg63Trp) GRCh37: Chr16:87960507 GRCh38: Chr16:87926901	CA5A	R63W	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 192976944.	NM_001739.2(CA5A):c.508G>T (p.Ala170Ser) GRCh37: Chr16:87936078 GRCh38: Chr16:87902472	CA5A	A170S	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Uncertain significance (Dec 28, 2021)	criteria provided, single submitter
Select item 191985545.	NM_001739.2(CA5A):c.782C>T (p.Ala261Val) GRCh37: Chr16:87921871 GRCh38: Chr16:87888265	CA5A	A261V	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 172226046.	NM_001739.2(CA5A):c.404C>T (p.Ala135Val) GRCh37: Chr16:87938447 GRCh38: Chr16:87904841	CA5A	A135V	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Uncertain significance (Oct 31, 2022)	criteria provided, single submitter
Select item 170523347.	NC_000016.9:g.(87925561_87935517)_(87970113_?)del GRCh37: Chr16:87925561-87970113	CA5A		Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Likely pathogenic (Aug 29, 2022)	criteria provided, single submitter
Select item 165858748.	NM_001739.2(CA5A):c.630G>A (p.Ala210=) GRCh37: Chr16:87925549 GRCh38: Chr16:87891943	CA5A		Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Likely benign (Jan 18, 2022)	criteria provided, single submitter
Select item 165261449.	NM_001739.2(CA5A):c.788G>A (p.Arg263His) GRCh37: Chr16:87921865 GRCh38: Chr16:87888259	CA5A	R263H	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Conflicting interpretations of pathogenicity (Sep 27, 2022)	criteria provided, conflicting interpretations
Select item 162626050.	NM_001739.2(CA5A):c.588G>C (p.Leu196=) GRCh37: Chr16:87935548 GRCh38: Chr16:87901942	CA5A		Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Likely benign (Jan 8, 2021)	criteria provided, single submitter
Select item 161208251.	NM_001739.2(CA5A):c.753C>T (p.Pro251=) GRCh37: Chr16:87925426 GRCh38: Chr16:87891820	CA5A		Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 159963952.	NM_001739.2(CA5A):c.555+12C>G GRCh37: Chr16:87936019 GRCh38: Chr16:87902413	CA5A		Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Benign (Sep 1, 2022)	criteria provided, single submitter
Select item 159160753.	NM_001739.2(CA5A):c.438C>T (p.Asp146=) GRCh37: Chr16:87938413 GRCh38: Chr16:87904807	CA5A		Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 158625754.	NM_001739.2(CA5A):c.459+10C>T GRCh37: Chr16:87938382 GRCh38: Chr16:87904776	CA5A		Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Likely benign (Oct 27, 2022)	criteria provided, single submitter
Select item 158620255.	NM_001739.2(CA5A):c.340+16G>A GRCh37: Chr16:87960338 GRCh38: Chr16:87926732	CA5A		Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Likely benign (Aug 6, 2021)	criteria provided, single submitter
Select item 158310556.	NM_001739.2(CA5A):c.777C>G (p.Leu259=) GRCh37: Chr16:87921876 GRCh38: Chr16:87888270	CA5A		Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Likely benign (Sep 21, 2022)	criteria provided, single submitter
Select item 158069557.	NM_001739.2(CA5A):c.340+7G>A GRCh37: Chr16:87960347 GRCh38: Chr16:87926741	CA5A		Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Likely benign (Aug 6, 2021)	criteria provided, single submitter
Select item 157844658.	NM_001739.2(CA5A):c.619-7C>T GRCh37: Chr16:87925567 GRCh38: Chr16:87891961	CA5A		Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 155631659.	NM_001739.2(CA5A):c.846C>T (p.Arg282=) GRCh37: Chr16:87921807 GRCh38: Chr16:87888201	CA5A		Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 154783660.	NM_001739.2(CA5A):c.726G>A (p.Ser242=) GRCh37: Chr16:87925453 GRCh38: Chr16:87891847	CA5A		Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Likely benign (May 12, 2021)	criteria provided, single submitter
Select item 152382461.	NM_001739.2(CA5A):c.18T>C (p.Thr6=) GRCh37: Chr16:87970039 GRCh38: Chr16:87936433	CA5A		Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Likely benign (Jun 20, 2022)	criteria provided, single submitter
Select item 152054962.	NM_001739.2(CA5A):c.253G>T (p.Val85Phe) GRCh37: Chr16:87960441 GRCh38: Chr16:87926835	CA5A	V85F	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 151521963.	NM_001739.2(CA5A):c.556C>G (p.Leu186Val) GRCh37: Chr16:87935580 GRCh38: Chr16:87901974	CA5A	L186V	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 151074164.	NM_001739.2(CA5A):c.38C>T (p.Ser13Phe) GRCh37: Chr16:87970019 GRCh38: Chr16:87936413	CA5A	S13F	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 150403765.	NM_001739.2(CA5A):c.433G>A (p.Val145Met) GRCh37: Chr16:87938418 GRCh38: Chr16:87904812	CA5A	V145M	Inborn genetic diseases, Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Uncertain significance (Aug 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 149500066.	NM_001739.2(CA5A):c.514G>T (p.Val172Leu) GRCh37: Chr16:87936072 GRCh38: Chr16:87902466	CA5A	V172L	Inborn genetic diseases, Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Conflicting interpretations of pathogenicity (Mar 2, 2023)	criteria provided, conflicting interpretations
Select item 149468367.	NM_001739.2(CA5A):c.544G>A (p.Val182Met) GRCh37: Chr16:87936042 GRCh38: Chr16:87902436	CA5A	V182M	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Uncertain significance (Oct 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 149361768.	NM_001739.2(CA5A):c.376C>G (p.Leu126Val) GRCh37: Chr16:87938475 GRCh38: Chr16:87904869	CA5A	L126V	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 149051969.	NM_001739.2(CA5A):c.744G>T (p.Gln248His) GRCh37: Chr16:87925435 GRCh38: Chr16:87891829	CA5A	Q248H	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 148894770.	NM_001739.2(CA5A):c.623C>T (p.Ala208Val) GRCh37: Chr16:87925556 GRCh38: Chr16:87891950	CA5A	A208V	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 146979971.	NM_001739.2(CA5A):c.164C>T (p.Pro55Leu) GRCh37: Chr16:87960530 GRCh38: Chr16:87926924	CA5A	P55L	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 146113972.	NM_001739.2(CA5A):c.444C>T (p.His148=) GRCh37: Chr16:87938407 GRCh38: Chr16:87904801	CA5A		Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 145796573.	NC_000016.9:g.(?_87960334)_(87970056_?)del GRCh37: Chr16:87960334-87970056	CA5A		Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Pathogenic (Aug 23, 2022)	criteria provided, single submitter
Select item 144732574.	NM_001739.2(CA5A):c.123G>T (p.Trp41Cys) GRCh37: Chr16:87969934 GRCh38: Chr16:87936328	CA5A	W41C	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 142778175.	NM_001739.2(CA5A):c.626G>A (p.Arg209Gln) GRCh37: Chr16:87925553 GRCh38: Chr16:87891947	CA5A	R209Q	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Uncertain significance (Nov 8, 2021)	criteria provided, single submitter
Select item 142341276.	NM_001739.2(CA5A):c.615T>A (p.His205Gln) GRCh37: Chr16:87935521 GRCh38: Chr16:87901915	CA5A	H205Q	Inborn genetic diseases, Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Uncertain significance (Mar 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 142178477.	NM_001739.2(CA5A):c.412G>A (p.Glu138Lys) GRCh37: Chr16:87938439 GRCh38: Chr16:87904833	CA5A	E138K	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Uncertain significance (Dec 12, 2021)	criteria provided, single submitter
Select item 141873478.	NM_001739.2(CA5A):c.668C>A (p.Thr223Asn) GRCh37: Chr16:87925511 GRCh38: Chr16:87891905	CA5A	T223N	Inborn genetic diseases, Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Uncertain significance (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 141659779.	NM_001739.2(CA5A):c.445G>A (p.Ala149Thr) GRCh37: Chr16:87938406 GRCh38: Chr16:87904800	CA5A	A149T	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency, Inborn genetic diseases	Uncertain significance (Jul 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 141655480.	NM_001739.2(CA5A):c.847_848delinsGA (p.Pro283Glu) GRCh37: Chr16:87921805-87921806 GRCh38: Chr16:87888199-87888200	CA5A	P283E	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Uncertain significance (Sep 16, 2021)	criteria provided, single submitter
Select item 141466481.	NM_001739.2(CA5A):c.446C>T (p.Ala149Val) GRCh37: Chr16:87938405 GRCh38: Chr16:87904799	CA5A	A149V	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Uncertain significance (Sep 6, 2021)	criteria provided, single submitter
Select item 140347882.	NM_001739.2(CA5A):c.763G>A (p.Ala255Thr) GRCh37: Chr16:87925416 GRCh38: Chr16:87891810	CA5A	A255T	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 138196483.	NM_001739.2(CA5A):c.298T>A (p.Tyr100Asn) GRCh37: Chr16:87960396 GRCh38: Chr16:87926790	CA5A	Y100N	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Uncertain significance (Sep 18, 2021)	criteria provided, single submitter
Select item 137929784.	NM_001739.2(CA5A):c.235C>G (p.Gln79Glu) GRCh37: Chr16:87960459 GRCh38: Chr16:87926853	CA5A	Q79E	Inborn genetic diseases, Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Uncertain significance (May 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 137472585.	NM_001739.2(CA5A):c.89C>G (p.Pro30Arg) GRCh37: Chr16:87969968 GRCh38: Chr16:87936362	CA5A	P30R	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 120373686.	NM_001739.2(CA5A):c.287G>C (p.Trp96Ser) GRCh37: Chr16:87960407 GRCh38: Chr16:87926801	CA5A	W96S	not provided, Inborn genetic diseases, Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Uncertain significance (Mar 2, 2023)	criteria provided, multiple submitters, no conflicts
Select item 111782087.	NM_001739.2(CA5A):c.819G>A (p.Glu273=) GRCh37: Chr16:87921834 GRCh38: Chr16:87888228	CA5A		Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Likely benign (May 18, 2019)	criteria provided, single submitter
Select item 110342388.	NM_001739.2(CA5A):c.143-15TC[5] GRCh37: Chr16:87960558-87960559 GRCh38: Chr16:87926952-87926953	CA5A		Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Likely benign (Aug 26, 2019)	criteria provided, single submitter
Select item 109745089.	NM_001739.2(CA5A):c.849A>G (p.Pro283=) GRCh37: Chr16:87921804 GRCh38: Chr16:87888198	CA5A		Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Likely benign (Oct 14, 2020)	criteria provided, single submitter
Select item 108813590.	NM_001739.2(CA5A):c.690C>T (p.Tyr230=) GRCh37: Chr16:87925489 GRCh38: Chr16:87891883	CA5A		Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 106984291.	NC_000016.9:g.(?_87938372)_(87960571_?)del GRCh37: Chr16:87938372-87960571	CA5A		Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Pathogenic (Mar 5, 2020)	criteria provided, single submitter
Select item 106984192.	NC_000016.9:g.(?_87636753)_(88505740_?)del GRCh37: Chr16:87636753-88505740	BANP, CA5A, JPH3, KLHDC4, SLC7A5, ZNF469		Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Pathogenic (Oct 10, 2020)	criteria provided, single submitter
Select item 105488393.	NM_001739.2(CA5A):c.512T>C (p.Val171Ala) GRCh37: Chr16:87936074 GRCh38: Chr16:87902468	CA5A	V171A	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 104131994.	NM_001739.2(CA5A):c.575C>T (p.Thr192Met) GRCh37: Chr16:87935561 GRCh38: Chr16:87901955	CA5A	T192M	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Uncertain significance (Oct 25, 2021)	criteria provided, single submitter
Select item 104093095.	NM_001739.2(CA5A):c.427C>G (p.His143Asp) GRCh37: Chr16:87938424 GRCh38: Chr16:87904818	CA5A	H143D	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 103486296.	NM_001739.2(CA5A):c.629C>T (p.Ala210Val) GRCh37: Chr16:87925550 GRCh38: Chr16:87891944	CA5A	A210V	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 97355497.	NM_001739.2(CA5A):c.580C>T (p.Gln194Ter) GRCh37: Chr16:87935556 GRCh38: Chr16:87901950	CA5A	Q194*	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Likely pathogenic	criteria provided, single submitter
Select item 96209698.	NM_001739.2(CA5A):c.767_774+13del GRCh37: Chr16:87925392-87925412 GRCh38: Chr16:87891786-87891806	CA5A		not provided, Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency, not specified	Conflicting interpretations of pathogenicity (Apr 14, 2023)	criteria provided, conflicting interpretations
Select item 94682599.	NM_001739.2(CA5A):c.473A>C (p.His158Pro) GRCh37: Chr16:87936113 GRCh38: Chr16:87902507	CA5A	H158P	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency, not provided	Uncertain significance (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 863557100.	NM_001739.2(CA5A):c.271T>C (p.Ser91Pro) GRCh37: Chr16:87960423 GRCh38: Chr16:87926817	CA5A	S91P	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter

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