ClinVar for MedGen (Select 816734) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency +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 1722260	NM_001739.2(CA5A):c.404C>T (p.Ala135Val)	CA5A (A135V)	Single nucleotide variant (missense variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GUncertain significance
Select item 1705233	NC_000016.9:g.(87925561_87935517)_(87970113_?)del	CA5A	Deletion	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GLikely pathogenic
Select item 1658587	NM_001739.2(CA5A):c.630G>A (p.Ala210=)	CA5A	Single nucleotide variant (synonymous variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GLikely benign
Select item 1652614	NM_001739.2(CA5A):c.788G>A (p.Arg263His)	CA5A (R263H)	Single nucleotide variant (missense variant +2 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GConflicting classifications of pathogenicity
Select item 1626260	NM_001739.2(CA5A):c.588G>C (p.Leu196=)	CA5A	Single nucleotide variant (synonymous variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GLikely benign
Select item 1612082	NM_001739.2(CA5A):c.753C>T (p.Pro251=)	CA5A	Single nucleotide variant (synonymous variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GLikely benign
Select item 1599639	NM_001739.2(CA5A):c.555+12C>G	CA5A	Single nucleotide variant (intron variant)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GBenign
Select item 1591607	NM_001739.2(CA5A):c.438C>T (p.Asp146=)	CA5A	Single nucleotide variant (synonymous variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency +1 more	GLikely benign
Select item 1586257	NM_001739.2(CA5A):c.459+10C>T	CA5A	Single nucleotide variant (intron variant)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency +1 more	GLikely benign
Select item 1586202	NM_001739.2(CA5A):c.340+16G>A	CA5A	Single nucleotide variant (intron variant)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GLikely benign
Select item 1583105	NM_001739.2(CA5A):c.777C>G (p.Leu259=)	CA5A	Single nucleotide variant (non-coding transcript variant +2 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GLikely benign
Select item 1580695	NM_001739.2(CA5A):c.340+7G>A	CA5A	Single nucleotide variant (intron variant)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GLikely benign
Select item 1578446	NM_001739.2(CA5A):c.619-7C>T	CA5A	Single nucleotide variant (intron variant)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency +1 more	GLikely benign
Select item 1556316	NM_001739.2(CA5A):c.846C>T (p.Arg282=)	CA5A	Single nucleotide variant (synonymous variant +2 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GLikely benign
Select item 1547836	NM_001739.2(CA5A):c.726G>A (p.Ser242=)	CA5A	Single nucleotide variant (synonymous variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GLikely benign
Select item 1523824	NM_001739.2(CA5A):c.18T>C (p.Thr6=)	CA5A	Single nucleotide variant (synonymous variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GLikely benign
Select item 1520549	NM_001739.2(CA5A):c.253G>T (p.Val85Phe)	CA5A (V85F)	Single nucleotide variant (missense variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GUncertain significance
Select item 1515219	NM_001739.2(CA5A):c.556C>G (p.Leu186Val)	CA5A (L186V)	Single nucleotide variant (non-coding transcript variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GUncertain significance
Select item 1510741	NM_001739.2(CA5A):c.38C>T (p.Ser13Phe)	CA5A (S13F)	Single nucleotide variant (missense variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GUncertain significance
Select item 1504037	NM_001739.2(CA5A):c.433G>A (p.Val145Met)	CA5A (V145M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1495000	NM_001739.2(CA5A):c.514G>T (p.Val172Leu)	CA5A (V172L)	Single nucleotide variant (missense 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)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GUncertain significance
Select item 1493617	NM_001739.2(CA5A):c.376C>G (p.Leu126Val)	CA5A (L126V)	Single nucleotide variant (missense variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GUncertain significance
Select item 1490519	NM_001739.2(CA5A):c.744G>T (p.Gln248His)	CA5A (Q248H)	Single nucleotide variant (non-coding transcript variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GUncertain significance
Select item 1488947	NM_001739.2(CA5A):c.623C>T (p.Ala208Val)	CA5A (A208V)	Single nucleotide variant (missense variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency +1 more	GUncertain significance
Select item 1469799	NM_001739.2(CA5A):c.164C>T (p.Pro55Leu)	CA5A (P55L)	Single nucleotide variant (missense variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GUncertain significance
Select item 1461139	NM_001739.2(CA5A):c.444C>T (p.His148=)	CA5A	Single nucleotide variant (synonymous variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GLikely benign
Select item 1457965	NC_000016.9:g.(?_87960334)_(87970056_?)del	CA5A	Deletion	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GPathogenic
Select item 1447325	NM_001739.2(CA5A):c.123G>T (p.Trp41Cys)	CA5A (W41C)	Single nucleotide variant (missense variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GUncertain significance
Select item 1427781	NM_001739.2(CA5A):c.626G>A (p.Arg209Gln)	CA5A (R209Q)	Single nucleotide variant (missense variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GUncertain significance
Select item 1423412	NM_001739.2(CA5A):c.615T>A (p.His205Gln)	CA5A (H205Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1421784	NM_001739.2(CA5A):c.412G>A (p.Glu138Lys)	CA5A (E138K)	Single nucleotide variant (missense variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GUncertain significance
Select item 1418734	NM_001739.2(CA5A):c.668C>A (p.Thr223Asn)	CA5A (T223N)	Single nucleotide variant (missense variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency +1 more	GUncertain significance
Select item 1416597	NM_001739.2(CA5A):c.445G>A (p.Ala149Thr)	CA5A (A149T)	Single nucleotide variant (missense variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency +1 more	GUncertain significance
Select item 1416554	NM_001739.2(CA5A):c.847_848delinsGA (p.Pro283Glu)	CA5A (P283E)	Indel (missense variant +2 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GUncertain significance
Select item 1414664	NM_001739.2(CA5A):c.446C>T (p.Ala149Val)	CA5A (A149V)	Single nucleotide variant (missense variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GUncertain significance
Select item 1403478	NM_001739.2(CA5A):c.763G>A (p.Ala255Thr)	CA5A (A255T)	Single nucleotide variant (missense variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GUncertain significance
Select item 1381964	NM_001739.2(CA5A):c.298T>A (p.Tyr100Asn)	CA5A (Y100N)	Single nucleotide variant (missense variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GUncertain significance
Select item 1379297	NM_001739.2(CA5A):c.235C>G (p.Gln79Glu)	CA5A (Q79E)	Single nucleotide variant (missense variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency +1 more	GUncertain significance
Select item 1374725	NM_001739.2(CA5A):c.89C>G (p.Pro30Arg)	CA5A (P30R)	Single nucleotide variant (missense variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GUncertain significance
Select item 1203736	NM_001739.2(CA5A):c.287G>C (p.Trp96Ser)	CA5A (W96S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance

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