Related gene-specific medical variations for Gene (Select 445) - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362551	NM_054012.4(ASS1):c.381del (p.Phe128fs)	ASS1 (F128fs)	Deletion (frameshift variant)	Citrullinemia type I	GLikely pathogenic
Select item 3245095	NC_000009.11:g.(?_133346201)_(133376408_?)del	ASS1	Deletion	Citrullinemia	GPathogenic
Select item 3245094	NC_000009.11:g.(?_133339478)_(133346922_?)del	ASS1	Deletion	Citrullinemia	GPathogenic
Select item 3245093	NC_000009.11:g.(?_133327616)_(133333996_?)del	ASS1	Deletion	Citrullinemia	GPathogenic
Select item 3245091	NC_000009.11:g.(?_133355083)_(133355856_?)del	ASS1	Deletion	Citrullinemia	GPathogenic
Select item 3245090	NC_000009.11:g.(?_133342092)_(133342206_?)del	ASS1	Deletion	Citrullinemia	GPathogenic
Select item 3245089	NC_000009.11:g.(?_133327616)_(133327740_?)del	ASS1	Deletion	Citrullinemia	GPathogenic
Select item 3245088	NC_000009.11:g.(?_133327601)_(133376418_?)del	ASS1	Deletion	Citrullinemia	GPathogenic
Select item 3240656	NM_054012.4(ASS1):c.1194-2A>G	ASS1	Single nucleotide variant (splice acceptor variant)	Citrullinemia type I	GPathogenic
Select item 3240653	NM_054012.4(ASS1):c.726del (p.Thr243fs)	ASS1 (T243fs)	Deletion (frameshift variant)	Citrullinemia type I	GLikely pathogenic
Select item 3240610	NM_054012.4(ASS1):c.413del (p.Gln138fs)	ASS1 (Q138fs)	Deletion (frameshift variant)	Citrullinemia type I	GLikely pathogenic
Select item 3062249	NM_054012.4(ASS1):c.175-2A>G	ASS1	Single nucleotide variant (splice acceptor variant)	Citrullinemia type I	GLikely pathogenic
Select item 2907930	NM_054012.4(ASS1):c.689-13C>T	ASS1, LOC110121061	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 2822859	NM_054012.4(ASS1):c.689-9C>G	ASS1, LOC110121061	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 2795758	NM_054012.4(ASS1):c.689-10C>T	ASS1, LOC110121061	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 2679104	NM_054012.4(ASS1):c.119A>T (p.Gln40Leu)	ASS1 (Q40L)	Single nucleotide variant (missense variant)	Citrullinemia type I	GLikely pathogenic
Select item 2679093	NM_054012.4(ASS1):c.391_398del (p.Ser131fs)	ASS1 (S131fs)	Deletion (frameshift variant)	Citrullinemia type I	GLikely pathogenic
Select item 2679090	NM_054012.4(ASS1):c.174+1G>C	ASS1	Single nucleotide variant (splice donor variant)	Citrullinemia type I	GLikely pathogenic
Select item 2679080	NM_054012.4(ASS1):c.1047del (p.Gln350fs)	ASS1 (Q350fs)	Deletion (frameshift variant)	Citrullinemia type I	GLikely pathogenic
Select item 2679072	NM_054012.4(ASS1):c.299del (p.Arg100fs)	ASS1 (R100fs)	Deletion (frameshift variant)	Citrullinemia type I	GPathogenic
Select item 2679053	NM_054012.4(ASS1):c.992_997delinsA (p.Cys331fs)	ASS1 (C331fs)	Indel (frameshift variant)	Citrullinemia type I	GLikely pathogenic
Select item 2679051	NM_054012.4(ASS1):c.269G>A (p.Gly90Asp)	ASS1 (G90D)	Single nucleotide variant (missense variant)	Citrullinemia type I	GLikely pathogenic
Select item 2679049	NM_054012.4(ASS1):c.815G>T (p.Arg272Leu)	ASS1 (R272L)	Single nucleotide variant (missense variant)	Citrullinemia type I	GLikely pathogenic
Select item 2679034	NM_054012.4(ASS1):c.774-2del	ASS1	Deletion (splice acceptor variant)	Citrullinemia type I	GLikely pathogenic
Select item 2679031	NM_054012.4(ASS1):c.839-1G>A	ASS1	Single nucleotide variant (splice acceptor variant)	Citrullinemia type I	GLikely pathogenic
Select item 2679029	NM_054012.4(ASS1):c.848del (p.Glu283fs)	ASS1 (E283fs)	Deletion (frameshift variant)	Citrullinemia type I	GPathogenic
Select item 2679025	NM_054012.4(ASS1):c.401C>A (p.Ser134Ter)	ASS1 (S134*)	Single nucleotide variant (nonsense)	Citrullinemia type I	GLikely pathogenic
Select item 2679022	NM_054012.4(ASS1):c.285del (p.Arg95fs)	ASS1 (R95fs)	Deletion (frameshift variant)	Citrullinemia type I	GLikely pathogenic
Select item 2679013	NM_054012.4(ASS1):c.364-2A>C	ASS1	Single nucleotide variant (splice acceptor variant)	Citrullinemia type I	GPathogenic
Select item 2679009	NM_054012.4(ASS1):c.69G>A (p.Trp23Ter)	ASS1 (W23*)	Single nucleotide variant (nonsense)	Citrullinemia type I	GLikely pathogenic
Select item 2679002	NM_054012.4(ASS1):c.1193+1G>T	ASS1	Single nucleotide variant (splice donor variant)	Citrullinemia type I	GLikely pathogenic
Select item 2678996	NM_054012.4(ASS1):c.246del (p.Tyr83fs)	ASS1 (Y83fs)	Deletion (frameshift variant)	Citrullinemia type I	GLikely pathogenic
Select item 2678957	NM_054012.4(ASS1):c.907del (p.Asp303fs)	ASS1 (D303fs)	Deletion (frameshift variant)	Citrullinemia type I	GLikely pathogenic
Select item 2580904	NM_054012.4(ASS1):c.931C>G (p.Gln311Glu)	ASS1 (Q311E)	Single nucleotide variant (missense variant)	Citrullinemia type I	GUncertain significance
Select item 2439268	NM_054012.4(ASS1):c.590A>G (p.Asn197Ser)	ASS1 (N197S)	Single nucleotide variant (missense variant)	Citrullinemia type I	GUncertain significance
Select item 1323948	NM_054012.4(ASS1):c.571G>T (p.Glu191Ter)	ASS1 (E191*)	Single nucleotide variant (nonsense)	Citrullinemia type I	GLikely pathogenic
Select item 1207249	NM_054012.4(ASS1):c.-5-215G>A	ASS1, LOC124310668	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204545	NM_054012.4(ASS1):c.-5-300G>A	ASS1, LOC124310668	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 995616	NM_054012.4(ASS1):c.838+38=	ASS1	Variation (intron variant)	Citrullinemia type I	GBenign
Select item 995615	NM_054012.4(ASS1):c.597+18=	ASS1	Variation (intron variant)	Citrullinemia type I	GBenign
Select item 991334	NM_054012.4(ASS1):c.969C>T (p.Thr323=)	ASS1	Single nucleotide variant (synonymous variant)	Citrullinemia type I	GUncertain significance
Select item 913080	NM_054012.3(ASS1):c.-175G>A	ASS1, LOC130002809	Single nucleotide variant (5 prime UTR variant)	Citrullinemia type I	GLikely benign
Select item 912712	NM_054012.3(ASS1):c.-217G>T	ASS1, LOC130002809	Single nucleotide variant (5 prime UTR variant)	Citrullinemia type I	GUncertain significance
Select item 365248	NM_054012.3(ASS1):c.-146_-145dup	ASS1, LOC130002809	Duplication (5 prime UTR variant)	Citrullinemia type I	GUncertain significance
Select item 365247	NM_054012.3(ASS1):c.-171G>A	ASS1, LOC130002809	Single nucleotide variant (5 prime UTR variant)	Citrullinemia type I	GUncertain significance
Select item 365246	NM_054012.3(ASS1):c.-172C>T	LOC130002809, ASS1	Single nucleotide variant (5 prime UTR variant)	Citrullinemia type I	GBenign
Select item 365245	NM_054012.3(ASS1):c.-185A>G	ASS1, LOC130002809	Single nucleotide variant (5 prime UTR variant)	Citrullinemia type I	GUncertain significance
Select item 365244	NM_054012.3(ASS1):c.-203C>G	LOC130002809, ASS1	Single nucleotide variant (5 prime UTR variant)	Citrullinemia type I	GUncertain significance
Select item 365243	NM_054012.3(ASS1):c.-233G>T	ASS1, LOC130002809	Single nucleotide variant (5 prime UTR variant)	Citrullinemia type I	GUncertain significance
Select item 365242	NM_054012.3(ASS1):c.-233G>C	ASS1, LOC130002809	Single nucleotide variant (5 prime UTR variant)	Citrullinemia type I	GUncertain significance
Select item 6322	NG_011542.1:g.(18884_24404)_(24462_27018)del	ASS1	Deletion	Citrullinemia type I	GPathogenic
Select item 6321	NM_000050.4:c.(174+1_175-1)_(363+1_364-1)del	ASS1	Deletion	Citrullinemia type I	GPathogenic

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Links from Gene

Items: 52