763[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059149, LOC130059150 +1738 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059618, LOC130059619 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	AARS1, ACD +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	HSBP1, HSD17B2 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	LOC126862439, LOC126862440 +1031 more	Copy number gain	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	ACSF3, ADAD2 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC130059708, LOC130059709 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	LINC01081, LINC01082 +781 more	Copy number gain	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	ACSF3, ADAD2 +719 more	Copy number gain	See cases	GPathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	ACSF3, ADAD2 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	ACSF3, ADAD2 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	ACSF3, ADAD2 +670 more	Copy number gain	See cases	GPathogenic
Select item 58648	GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	LOC130059691, LOC130059692 +566 more	Copy number gain	See cases	GPathogenic
Select item 148918	GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3	ACSF3, ADAD2 +531 more	Copy number gain	See cases	GLikely pathogenic
Select item 146355	GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	ACSF3, ADAD2 +534 more	Copy number gain	See cases	GLikely pathogenic
Select item 150862	GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3	ACSF3, ANKRD11 +420 more	Copy number gain	See cases	GPathogenic
Select item 155557	GRCh38/hg38 16q24.1-24.3(chr16:86950106-89335814)x1	ACSF3, ANKRD11 +210 more	Copy number loss	See cases	GPathogenic
Select item 2503467	Single allele	LOC121587566, LOC121587567 +218 more	Deletion	KBG syndrome	GPathogenic
Select item 59520	GRCh38/hg38 16q24.2-24.3(chr16:87306529-89269079)x1	ACSF3, ANKRD11 +196 more	Copy number loss	See cases	GPathogenic
Select item 154521	GRCh38/hg38 16q24.2(chr16:87766820-88391819)x3	BANP, CA5A +35 more	Copy number gain	See cases	GUncertain significance
Select item 149103	GRCh38/hg38 16q24.2-24.3(chr16:87848216-90096995)x3	ACSF3, ANKRD11 +268 more	Copy number gain	See cases	GLikely pathogenic
Select item 58651	GRCh38/hg38 16q24.2-24.3(chr16:87853401-90081985)x3	ACSF3, ANKRD11 +267 more	Copy number gain	See cases	GPathogenic
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 3033707	NM_001739.2(CA5A):c.*10G>A	CA5A	Single nucleotide variant (3 prime UTR variant +2 more)	CA5A-related condition	GLikely benign
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 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 791684	NM_001739.2(CA5A):c.882G>A (p.Ala294=)	CA5A	Single nucleotide variant (synonymous variant +2 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GBenign
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 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 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 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 1097450	NM_001739.2(CA5A):c.849A>G (p.Pro283=)	CA5A	Single nucleotide variant (synonymous variant +2 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GLikely benign
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 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 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 1117820	NM_001739.2(CA5A):c.819G>A (p.Glu273=)	CA5A	Single nucleotide variant (synonymous variant +2 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GLikely benign
Select item 379955	NM_001739.2(CA5A):c.807A>T (p.Ala269=)	CA5A	Single nucleotide variant (synonymous variant +2 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency +1 more	GBenign
Select item 493196	NM_001739.2(CA5A):c.799T>C (p.Phe267Leu)	CA5A (F267L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 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 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 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 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 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 127089	NM_001739.2(CA5A):c.619-3421_774+502del	CA5A	Deletion (splice acceptor variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GPathogenic
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 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 757289	NM_001739.2(CA5A):c.774+7C>T	CA5A	Single nucleotide variant (intron variant)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GLikely benign
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 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 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 559305	NM_001739.2(CA5A):c.749A>G (p.Glu250Gly)	CA5A (E250G)	Single nucleotide variant (missense variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency +2 more	GLikely benign
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 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 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 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 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 388645	NM_001739.2(CA5A):c.721G>A (p.Glu241Lys)	CA5A (E241K)	Single nucleotide variant (missense variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency +1 more	GPathogenic/Likely pathogenic
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 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 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 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 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 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 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 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 1088135	NM_001739.2(CA5A):c.690C>T (p.Tyr230=)	CA5A	Single nucleotide variant (synonymous variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GLikely benign
Select item 744985	NM_001739.2(CA5A):c.687C>T (p.Thr229=)	CA5A	Single nucleotide variant (synonymous variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GLikely benign
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 835721	NM_001739.2(CA5A):c.676G>A (p.Asp226Asn)	CA5A (D226N)	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 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 741579	NM_001739.2(CA5A):c.661C>T (p.Leu221=)	CA5A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 727736	NM_001739.2(CA5A):c.657T>C (p.Thr219=)	CA5A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 791685	NM_001739.2(CA5A):c.655A>G (p.Thr219Ala)	CA5A (T219A)	Single nucleotide variant (missense variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency +1 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 858013	NM_001739.2(CA5A):c.646G>A (p.Asp216Asn)	CA5A (D216N)	Single nucleotide variant (missense variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GUncertain significance
Select item 382589	NM_001739.2(CA5A):c.645C>T (p.Phe215=)	CA5A	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
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 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 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 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 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 1034862	NM_001739.2(CA5A):c.629C>T (p.Ala210Val)	CA5A (A210V)	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 738226	NM_001739.2(CA5A):c.624G>A (p.Ala208=)	CA5A	Single nucleotide variant (synonymous variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency +1 more	GLikely benign
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 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 1694804	NM_001739.2(CA5A):c.618+1769A>G	CA5A	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 3042135	NM_001739.2(CA5A):c.618+7T>G	CA5A	Single nucleotide variant (intron variant)	CA5A-related condition	GLikely benign
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 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 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 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 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 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 857738	NM_001739.2(CA5A):c.595A>T (p.Ile199Phe)	CA5A (I199F)	Single nucleotide variant (missense variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GUncertain significance

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