Related gene-specific medical variations for Gene (Select 162417) - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3239826	NM_153006.3(NAGS):c.916-2A>G	NAGS	Single nucleotide variant (splice acceptor variant)	Hyperammonemia, type III	GPathogenic
Select item 3239825	NM_153006.3(NAGS):c.186del (p.Glu62fs)	NAGS (E62fs)	Deletion (frameshift variant)	Hyperammonemia, type III	GLikely pathogenic
Select item 3239824	NM_153006.3:c.460_1021del	NAGS	Deletion	Hyperammonemia, type III	GLikely pathogenic
Select item 3239823	NM_153006.3(NAGS):c.1494G>A (p.Trp498Ter)	NAGS (W498*)	Single nucleotide variant (nonsense)	Hyperammonemia, type III	GLikely pathogenic
Select item 3239822	NM_153006.3(NAGS):c.1217_1230del (p.Asp406fs)	NAGS (D406fs)	Deletion (frameshift variant)	Hyperammonemia, type III	GLikely pathogenic
Select item 3239821	NM_153006.3(NAGS):c.278del (p.Pro93fs)	NAGS (P93fs)	Deletion (frameshift variant)	Hyperammonemia, type III	GPathogenic
Select item 2676928	NM_153006.3(NAGS):c.1465_1466del (p.His488_Ser489insTer)	NAGS	Deletion (nonsense)	Hyperammonemia, type III	GLikely pathogenic
Select item 2676927	NM_153006.3(NAGS):c.701+2dup	NAGS	Duplication (splice donor variant)	Hyperammonemia, type III	GLikely pathogenic
Select item 2676926	NM_153006.3(NAGS):c.1257C>A (p.Tyr419Ter)	NAGS (Y419*)	Single nucleotide variant (nonsense)	Hyperammonemia, type III	GLikely pathogenic
Select item 2676925	NM_153006.3(NAGS):c.645_649del (p.Pro216fs)	NAGS (P216fs)	Deletion (frameshift variant)	Hyperammonemia, type III	GLikely pathogenic
Select item 2676923	NM_153006.3(NAGS):c.915+2T>G	NAGS	Single nucleotide variant (splice donor variant)	Hyperammonemia, type III	GLikely pathogenic
Select item 2676922	NM_153006.3(NAGS):c.1451G>A (p.Trp484Ter)	NAGS (W484*)	Single nucleotide variant (nonsense)	Hyperammonemia, type III	GLikely pathogenic
Select item 2676921	NM_153006.3(NAGS):c.114_120dup (p.Arg41fs)	NAGS (R41fs)	Microsatellite (frameshift variant)	Hyperammonemia, type III	GLikely pathogenic
Select item 2676920	NM_153006.3(NAGS):c.823del (p.Leu275fs)	NAGS (L275fs)	Deletion (frameshift variant)	Hyperammonemia, type III	GLikely pathogenic
Select item 2676919	NM_153006.3(NAGS):c.719C>A (p.Ser240Ter)	NAGS (S240*)	Single nucleotide variant (nonsense)	Hyperammonemia, type III	GLikely pathogenic
Select item 2676918	NM_153006.3(NAGS):c.1096+2_1096+7del	NAGS	Deletion (splice donor variant)	Hyperammonemia, type III	GLikely pathogenic
Select item 2676916	NM_153006.3(NAGS):c.382C>T (p.Gln128Ter)	NAGS (Q128*)	Single nucleotide variant (nonsense)	Hyperammonemia, type III	GLikely pathogenic
Select item 2676915	NM_153006.3(NAGS):c.1489C>T (p.Gln497Ter)	NAGS (Q497*)	Single nucleotide variant (nonsense)	Hyperammonemia, type III	GLikely pathogenic
Select item 2676914	NM_153006.3(NAGS):c.1505G>A (p.Trp502Ter)	NAGS (W502*)	Single nucleotide variant (nonsense)	Hyperammonemia, type III	GLikely pathogenic
Select item 2676913	NM_153006.3(NAGS):c.1269-1G>A	NAGS	Single nucleotide variant (splice acceptor variant)	Hyperammonemia, type III	GLikely pathogenic
Select item 2676912	NM_153006.3(NAGS):c.1096+1G>A	NAGS	Single nucleotide variant (splice donor variant)	Hyperammonemia, type III	GLikely pathogenic
Select item 2676911	NM_153006.3(NAGS):c.334C>T (p.Gln112Ter)	NAGS (Q112*)	Single nucleotide variant (nonsense)	Hyperammonemia, type III	GLikely pathogenic
Select item 2676910	NM_153006.3(NAGS):c.499A>G (p.Met167Val)	NAGS (M167V)	Single nucleotide variant (missense variant)	Hyperammonemia, type III	GLikely pathogenic
Select item 2676909	NM_153006.3(NAGS):c.1452G>A (p.Trp484Ter)	NAGS (W484*)	Single nucleotide variant (nonsense)	Hyperammonemia, type III	GLikely pathogenic
Select item 2676908	NM_153006.3(NAGS):c.1097-1G>A	NAGS	Single nucleotide variant (splice acceptor variant)	Hyperammonemia, type III	GLikely pathogenic
Select item 2676907	NM_153006.3(NAGS):c.842del (p.Leu281fs)	NAGS (L281fs)	Deletion (frameshift variant)	Hyperammonemia, type III	GLikely pathogenic
Select item 2432040	NM_153006.3(NAGS):c.458del (p.Gly153fs)	NAGS (G153fs)	Deletion (frameshift variant)	Hyperammonemia, type III	GLikely pathogenic
Select item 2432032	NM_153006.3(NAGS):c.702-1G>C	NAGS	Single nucleotide variant (splice acceptor variant)	Hyperammonemia, type III	GLikely pathogenic
Select item 990476	NM_153006.3(NAGS):c.719C>T (p.Ser240Leu)	NAGS (S240L)	Single nucleotide variant (missense variant)	Hyperammonemia, type III	GUncertain significance
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 990474	NM_153006.3(NAGS):c.8C>G (p.Thr3Arg)	NAGS (T3R)	Single nucleotide variant (missense variant)	Hyperammonemia, type III	GUncertain significance
Select item 931446	NM_153006.3(NAGS):c.1096+2T>G	NAGS	Single nucleotide variant (splice donor variant)	Hyperammonemia, type III	GPathogenic
Select item 691450	NM_153006.3(NAGS):c.1378C>G (p.Leu460Val)	NAGS (L460V)	Single nucleotide variant (missense variant)	Esophageal atresia +1 more	GUncertain significance

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Links from Gene

Items: 33