162417[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC130060795, LOC130060796 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	AARSD1, ACBD4 +633 more	Copy number gain	See cases	GPathogenic
Select item 59586	GRCh38/hg38 17q21.31(chr17:43570878-44762377)x1	ADAM11, ASB16 +104 more	Copy number loss	See cases	GPathogenic
Select item 2499654	GRCh38/hg38 17q21.31(chr17:43603558-44033313)	CD300LG, CFAP97D1 +29 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 145615	GRCh38/hg38 17q21.31(chr17:43934167-44854025)x1	ADAM11, ASB16 +86 more	Copy number loss	See cases	GPathogenic
Select item 1184141	NM_004160.6(PYY):c.-463+2825G>A	NAGS, PYY	Single nucleotide variant (intron variant)	Hyperammonemia, type III	GLikely pathogenic
Select item 1177297	NM_004160.6(PYY):c.-463+2792T>A	NAGS, PYY	Single nucleotide variant (intron variant)	Hyperammonemia, type III	GLikely pathogenic
Select item 2192016	NM_004160.6(PYY):c.-463+2753G>A	NAGS, PYY	Single nucleotide variant (intron variant)	Hyperammonemia, type III	GUncertain significance
Select item 1217659	NC_000017.11:g.44004502T>C	NAGS	Single nucleotide variant	not provided	GLikely benign
Select item 508526	NM_153006.3(NAGS):c.-18C>T	NAGS	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 594233	NM_153006.3(NAGS):c.-6GTC[1]	NAGS	Microsatellite (5 prime UTR variant)	not provided	GUncertain significance
Select item 2174340	NM_153006.3(NAGS):c.2T>C (p.Met1Thr)	NAGS (M1T)	Single nucleotide variant (missense variant +1 more)	Hyperammonemia, type III	GUncertain significance
Select item 1618845	NM_153006.3(NAGS):c.6G>A (p.Ala2=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 990474	NM_153006.3(NAGS):c.8C>G (p.Thr3Arg)	NAGS (T3R)	Single nucleotide variant (missense variant)	Hyperammonemia, type III	GUncertain significance
Select item 890598	NM_153006.3(NAGS):c.8C>T (p.Thr3Met)	NAGS (T3M)	Single nucleotide variant (missense variant)	Hyperammonemia, type III	GUncertain significance
Select item 2798022	NM_153006.3(NAGS):c.9G>T (p.Thr3=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 1898556	NM_153006.3(NAGS):c.9G>A (p.Thr3=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 1672495	NM_153006.3(NAGS):c.15G>A (p.Leu5=)	NAGS	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2714366	NM_153006.3(NAGS):c.24G>C (p.Val8=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 990475	NM_153006.3(NAGS):c.25G>A (p.Val9Ile)	NAGS (V9I)	Single nucleotide variant (missense variant)	Hyperammonemia, type III	GUncertain significance
Select item 1113795	NM_153006.3(NAGS):c.30G>C (p.Leu10=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2879221	NM_153006.3(NAGS):c.32G>A (p.Arg11Gln)	NAGS (R11Q)	Single nucleotide variant (missense variant)	Hyperammonemia, type III	GUncertain significance
Select item 851292	NM_153006.3(NAGS):c.34del (p.Ala12fs)	NAGS (A12fs)	Deletion (frameshift variant)	Hyperammonemia, type III	GPathogenic
Select item 1410404	NM_153006.3(NAGS):c.34G>A (p.Ala12Thr)	NAGS (A12T)	Single nucleotide variant (missense variant)	Hyperammonemia, type III	GUncertain significance
Select item 426209	NM_153006.3(NAGS):c.34G>C (p.Ala12Pro)	NAGS (A12P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1128985	NM_153006.3(NAGS):c.42T>C (p.Ala14=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2962278	NM_153006.3(NAGS):c.45A>C (p.Val15=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 1445775	NM_153006.3(NAGS):c.46del (p.Ala16fs)	NAGS (A16fs)	Deletion (frameshift variant)	Hyperammonemia, type III	GPathogenic
Select item 1562810	NM_153006.3(NAGS):c.51G>A (p.Pro17=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2782341	NM_153006.3(NAGS):c.54G>A (p.Arg18=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 1297474	NM_153006.3(NAGS):c.56T>C (p.Leu19Pro)	NAGS (L19P)	Single nucleotide variant (missense variant)	Hyperammonemia, type III	GUncertain significance
Select item 2983530	NM_153006.3(NAGS):c.63C>A (p.Gly21=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 1557046	NM_153006.3(NAGS):c.63C>G (p.Gly21=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 1381157	NM_153006.3(NAGS):c.64C>T (p.Arg22Trp)	NAGS (R22W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2144051	NM_153006.3(NAGS):c.65G>C (p.Arg22Pro)	NAGS (R22P)	Single nucleotide variant (missense variant)	Hyperammonemia, type III	GUncertain significance
Select item 1070802	NM_153006.3(NAGS):c.69_78del (p.Gly24fs)	NAGS (G24fs)	Deletion (frameshift variant)	Hyperammonemia, type III	GPathogenic
Select item 2113031	NM_153006.3(NAGS):c.71G>A (p.Gly24Asp)	NAGS (G24D)	Single nucleotide variant (missense variant)	Hyperammonemia, type III	GUncertain significance
Select item 2171838	NM_153006.3(NAGS):c.72C>T (p.Gly24=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2756106	NM_153006.3(NAGS):c.75T>G (p.Thr25=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 1570890	NM_153006.3(NAGS):c.78G>T (p.Gly26=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 1402672	NM_153006.3(NAGS):c.80G>A (p.Gly27Asp)	NAGS (G27D)	Single nucleotide variant (missense variant)	Hyperammonemia, type III	GUncertain significance
Select item 1607533	NM_153006.3(NAGS):c.81C>T (p.Gly27=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 1133356	NM_153006.3(NAGS):c.81C>A (p.Gly27=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2417957	NM_153006.3(NAGS):c.83C>T (p.Ala28Val)	NAGS (A28V)	Single nucleotide variant (missense variant)	Hyperammonemia, type III	GUncertain significance
Select item 2861616	NM_153006.3(NAGS):c.92_119del (p.Leu31fs)	NAGS (L31fs)	Deletion (frameshift variant)	Hyperammonemia, type III	GPathogenic
Select item 2156927	NM_153006.3(NAGS):c.89G>A (p.Arg30Lys)	NAGS (R30K)	Single nucleotide variant (missense variant)	Hyperammonemia, type III	GUncertain significance
Select item 1086938	NM_153006.3(NAGS):c.90G>A (p.Arg30=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 1457560	NM_153006.3(NAGS):c.106_107del (p.Arg36fs)	NAGS (R36fs)	Microsatellite (frameshift variant)	Hyperammonemia, type III	GPathogenic
Select item 1124371	NM_153006.3(NAGS):c.102C>A (p.Gly34=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 590819	NM_153006.3(NAGS):c.102_103insAGATCGGAAGA (p.Ala35fs)	NAGS (A35fs)	Insertion (frameshift variant)	Hyperammonemia, type III	GLikely pathogenic
Select item 1155191	NM_153006.3(NAGS):c.105G>A (p.Ala35=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 1069451	NM_153006.3(NAGS):c.111_120del (p.Arg38fs)	NAGS (R38fs)	Deletion (frameshift variant)	Hyperammonemia, type III	GPathogenic
Select item 2676921	NM_153006.3(NAGS):c.114_120dup (p.Arg41fs)	NAGS (R41fs)	Microsatellite (frameshift variant)	Hyperammonemia, type III	GLikely pathogenic
Select item 1930500	NM_153006.3(NAGS):c.110G>A (p.Arg37Gln)	NAGS (R37Q)	Single nucleotide variant (missense variant)	Hyperammonemia, type III	GUncertain significance
Select item 2131999	NM_153006.3(NAGS):c.116_122dup (p.Arg41fs)	NAGS (R41fs)	Duplication (frameshift variant)	Hyperammonemia, type III	GPathogenic
Select item 1984826	NM_153006.3(NAGS):c.114G>A (p.Arg38=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2078418	NM_153006.3(NAGS):c.115G>A (p.Ala39Thr)	NAGS (A39T)	Single nucleotide variant (missense variant)	Hyperammonemia, type III	GUncertain significance
Select item 323443	NM_153006.3(NAGS):c.116C>T (p.Ala39Val)	NAGS (A39V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1118721	NM_153006.3(NAGS):c.117G>A (p.Ala39=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 388753	NM_153006.3(NAGS):c.117G>C (p.Ala39=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III +1 more	GLikely benign
Select item 2111878	NM_153006.3(NAGS):c.120G>A (p.Ala40=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 1613371	NM_153006.3(NAGS):c.123G>A (p.Arg41=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2155685	NM_153006.3(NAGS):c.125G>T (p.Gly42Val)	NAGS (G42V)	Single nucleotide variant (missense variant)	Hyperammonemia, type III	GUncertain significance
Select item 2119764	NM_153006.3(NAGS):c.134del (p.Pro45fs)	NAGS (P45fs)	Deletion (frameshift variant)	Hyperammonemia, type III	GPathogenic
Select item 1370381	NM_153006.3(NAGS):c.138del (p.Arg47fs)	NAGS (R47fs)	Deletion (frameshift variant)	Hyperammonemia, type III	GPathogenic
Select item 1160430	NM_153006.3(NAGS):c.135G>A (p.Pro45=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2177360	NM_153006.3(NAGS):c.138G>A (p.Gly46=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2827068	NM_153006.3(NAGS):c.141C>G (p.Arg47=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2758009	NM_153006.3(NAGS):c.141C>A (p.Arg47=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2106606	NM_153006.3(NAGS):c.147C>A (p.Leu49=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 1109319	NM_153006.3(NAGS):c.153C>T (p.Thr51=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 1416131	NM_153006.3(NAGS):c.154G>T (p.Ala52Ser)	NAGS (A52S)	Single nucleotide variant (missense variant)	Hyperammonemia, type III	GUncertain significance
Select item 1136738	NM_153006.3(NAGS):c.156C>T (p.Ala52=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 1536641	NM_153006.3(NAGS):c.162G>A (p.Ser54=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 796580	NM_153006.3(NAGS):c.168C>T (p.Pro56=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2905352	NM_153006.3(NAGS):c.174C>T (p.Pro58=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 1956902	NM_153006.3(NAGS):c.177G>A (p.Pro59=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 1106021	NM_153006.3(NAGS):c.180C>A (p.Pro60=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2037298	NM_153006.3(NAGS):c.181G>C (p.Glu61Gln)	NAGS (E61Q)	Single nucleotide variant (missense variant)	Hyperammonemia, type III	GUncertain significance
Select item 203864	NM_153006.3(NAGS):c.182A>G (p.Glu61Gly)	NAGS (E61G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 514926	NM_153006.3(NAGS):c.189C>T (p.Tyr63=)	NAGS	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 890599	NM_153006.3(NAGS):c.190G>A (p.Ala64Thr)	NAGS (A64T)	Single nucleotide variant (missense variant)	Hyperammonemia, type III +1 more	GUncertain significance
Select item 2071163	NM_153006.3(NAGS):c.193G>A (p.Gly65Ser)	NAGS (G65S)	Single nucleotide variant (missense variant)	Hyperammonemia, type III	GUncertain significance
Select item 2911643	NM_153006.3(NAGS):c.198G>A (p.Ala66=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2108582	NM_153006.3(NAGS):c.198G>T (p.Ala66=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2519653	NM_153006.3(NAGS):c.199G>A (p.Asp67Asn)	NAGS (D67N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 754664	NM_153006.3(NAGS):c.201C>T (p.Asp67=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2771726	NM_153006.3(NAGS):c.204C>T (p.Asp68=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2035668	NM_153006.3(NAGS):c.205G>C (p.Val69Leu)	NAGS (V69L)	Single nucleotide variant (missense variant)	Hyperammonemia, type III	GUncertain significance
Select item 1644947	NM_153006.3(NAGS):c.210C>T (p.Ser70=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 793633	NM_153006.3(NAGS):c.210C>G (p.Ser70=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 1896583	NM_153006.3(NAGS):c.216G>A (p.Ser72=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 1660085	NM_153006.3(NAGS):c.216G>C (p.Ser72=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 508522	NM_153006.3(NAGS):c.216G>T (p.Ser72=)	NAGS	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1150234	NM_153006.3(NAGS):c.219C>T (p.Pro73=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2956987	NM_153006.3(NAGS):c.225C>T (p.Ala75=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 1639824	NM_153006.3(NAGS):c.225C>G (p.Ala75=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2072275	NM_153006.3(NAGS):c.234G>A (p.Pro78=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 1997916	NM_153006.3(NAGS):c.234G>T (p.Pro78=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign

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