ClinVar for PubMed (Select 19006241) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from PubMed

Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2871350	NM_054012.4(ASS1):c.363+1G>A	ASS1	Single nucleotide variant (splice donor variant)	Citrullinemia	GLikely pathogenic
Select item 2860934	NM_054012.4(ASS1):c.631C>T (p.Gln211Ter)	ASS1 (Q211*)	Single nucleotide variant (nonsense)	Citrullinemia	GPathogenic
Select item 2821653	NM_054012.4(ASS1):c.199G>T (p.Glu67Ter)	ASS1 (E67*)	Single nucleotide variant (nonsense)	Citrullinemia	GPathogenic
Select item 2803980	NM_054012.4(ASS1):c.773+1G>T	ASS1	Single nucleotide variant (splice donor variant)	Citrullinemia	GPathogenic
Select item 2764597	NM_054012.4(ASS1):c.601C>T (p.Gln201Ter)	ASS1 (Q201*)	Single nucleotide variant (nonsense)	Citrullinemia	GPathogenic
Select item 2760926	NM_054012.4(ASS1):c.1090del (p.Glu364fs)	ASS1 (E364fs)	Deletion (frameshift variant)	Citrullinemia	GPathogenic
Select item 2744961	NM_054012.4(ASS1):c.57C>A (p.Cys19Ter)	ASS1 (C19*)	Single nucleotide variant (nonsense)	Citrullinemia	GPathogenic
Select item 2699253	NM_054012.4(ASS1):c.241_242del (p.Ala81fs)	ASS1 (A81fs)	Microsatellite (frameshift variant)	Citrullinemia	GPathogenic
Select item 2697716	NM_054012.4(ASS1):c.688+1G>C	ASS1	Single nucleotide variant (splice donor variant)	Citrullinemia	GLikely pathogenic
Select item 2694685	NM_054012.4(ASS1):c.222G>A (p.Trp74Ter)	ASS1 (W74*)	Single nucleotide variant (nonsense)	Citrullinemia	GPathogenic
Select item 2691577	NM_054012.4(ASS1):c.1022C>T (p.Ser341Phe)	ASS1 (S341F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422209	NC_000009.11:g.(?_133340833)_(133342151_?)del	ASS1	Deletion	Citrullinemia	GLikely pathogenic
Select item 2422207	NC_000009.11:g.(?_133319094)_(133377661_?)del	ASS1	Deletion	Citrullinemia	GPathogenic
Select item 2139638	NM_054012.4(ASS1):c.138_139del (p.Glu46fs)	ASS1 (E46fs)	Deletion (frameshift variant)	Citrullinemia	GPathogenic
Select item 2134004	NM_054012.4(ASS1):c.537G>A (p.Trp179Ter)	ASS1 (W179*)	Single nucleotide variant (nonsense)	Citrullinemia	GPathogenic
Select item 2087609	NM_054012.4(ASS1):c.1060del (p.Leu354fs)	ASS1 (L354fs)	Deletion (frameshift variant)	Citrullinemia	GPathogenic
Select item 2061871	NM_054012.4(ASS1):c.463A>T (p.Lys155Ter)	ASS1 (K155*)	Single nucleotide variant (nonsense)	Citrullinemia	GPathogenic
Select item 2034705	NM_054012.4(ASS1):c.687dup (p.Gly230fs)	ASS1 (G230fs)	Duplication (frameshift variant)	Citrullinemia	GPathogenic
Select item 2034356	NM_054012.4(ASS1):c.95_105+4del	ASS1	Deletion (splice donor variant)	Citrullinemia	GLikely pathogenic
Select item 2016666	NM_054012.4(ASS1):c.827_838+25del	ASS1	Deletion (splice donor variant)	Citrullinemia	GPathogenic
Select item 2006582	NM_054012.4(ASS1):c.983_984insGGTGAATTTG (p.Ser328fs)	ASS1 (S328fs)	Insertion (frameshift variant)	Citrullinemia	GPathogenic
Select item 2003009	NM_054012.4(ASS1):c.188_189del (p.Asp63fs)	ASS1 (D63fs)	Deletion (frameshift variant)	Citrullinemia	GPathogenic
Select item 1508960	NM_054012.4(ASS1):c.1075T>C (p.Tyr359His)	ASS1 (Y359H)	Single nucleotide variant (missense variant)	Citrullinemia	GLikely pathogenic
Select item 1497621	NM_054012.4(ASS1):c.688+2T>C	ASS1	Single nucleotide variant (splice donor variant)	Citrullinemia	GLikely pathogenic
Select item 1460356	NM_054012.4(ASS1):c.373C>T (p.Gln125Ter)	ASS1 (Q125*)	Single nucleotide variant (nonsense)	Citrullinemia	GPathogenic
Select item 1458486	NC_000009.11:g.(?_133355093)_(133355236_?)del	ASS1	Deletion	Citrullinemia	GPathogenic
Select item 1457339	NM_054012.4(ASS1):c.489C>G (p.Tyr163Ter)	ASS1 (Y163*)	Single nucleotide variant (nonsense)	Citrullinemia	GPathogenic
Select item 1456047	NC_000009.11:g.(?_133352248)_(133355846_?)del	ASS1	Deletion	Citrullinemia	GPathogenic
Select item 1454396	NC_000009.11:g.(?_133352248)_(133352358_?)del	ASS1	Deletion	Citrullinemia	GPathogenic
Select item 1434677	NM_054012.4(ASS1):c.621C>A (p.Tyr207Ter)	ASS1 (Y207*)	Single nucleotide variant (nonsense)	Citrullinemia	GPathogenic
Select item 1425929	NM_054012.4(ASS1):c.536G>A (p.Trp179Ter)	ASS1 (W179*)	Single nucleotide variant (nonsense)	Citrullinemia	GPathogenic
Select item 1424757	NM_054012.4(ASS1):c.1117G>T (p.Glu373Ter)	ASS1 (E373*)	Single nucleotide variant (nonsense)	Citrullinemia	GPathogenic
Select item 1400634	NM_054012.4(ASS1):c.611del (p.Pro204fs)	ASS1 (P204fs)	Deletion (frameshift variant)	Citrullinemia	GPathogenic
Select item 1355373	NM_054012.4(ASS1):c.944T>A (p.Leu315Ter)	ASS1 (L315*)	Single nucleotide variant (nonsense)	Citrullinemia	GPathogenic
Select item 1352022	NM_054012.4(ASS1):c.1010_1011delinsAA (p.Cys337Ter)	ASS1 (C337*)	Indel (nonsense)	Citrullinemia	GPathogenic
Select item 1345093	NC_000009.11:g.(?_133346862)_(133346912_?)dup	ASS1	Duplication	Citrullinemia	GLikely pathogenic
Select item 1072613	NM_054012.4(ASS1):c.1107_1108del (p.Tyr370fs)	ASS1 (Y370fs)	Microsatellite (frameshift variant)	Citrullinemia	GPathogenic
Select item 1071462	NC_000009.12:g.130479718dup	ASS1	Duplication	Citrullinemia	GPathogenic
Select item 1071097	NM_054012.4(ASS1):c.1048C>T (p.Gln350Ter)	ASS1 (Q350*)	Single nucleotide variant (nonsense)	Citrullinemia +1 more	GPathogenic
Select item 1071055	NM_054012.4(ASS1):c.489C>A (p.Tyr163Ter)	ASS1 (Y163*)	Single nucleotide variant (nonsense)	Citrullinemia	GPathogenic
Select item 1068237	NM_054012.4(ASS1):c.839-2A>T	ASS1	Single nucleotide variant (splice acceptor variant)	Citrullinemia	GLikely pathogenic
Select item 1067867	NM_054012.4(ASS1):c.495+2T>C	ASS1	Single nucleotide variant (splice donor variant)	Citrullinemia	GLikely pathogenic
Select item 1066521	NM_054012.4(ASS1):c.688+2del	ASS1	Deletion (splice donor variant)	Citrullinemia	GLikely pathogenic
Select item 1034022	NM_054012.4(ASS1):c.812dup (p.Asn271fs)	ASS1 (N271fs)	Duplication (frameshift variant)	Citrullinemia type I +1 more	GPathogenic/Likely pathogenic
Select item 993037	NM_054012.4(ASS1):c.479T>C (p.Leu160Pro)	ASS1 (L160P)	Single nucleotide variant (missense variant)	Citrullinemia	GLikely pathogenic
Select item 965231	NM_054012.4(ASS1):c.1157_1158del (p.Thr386fs)	ASS1 (T386fs)	Deletion (frameshift variant)	Citrullinemia	GLikely pathogenic
Select item 963993	NM_054012.4(ASS1):c.495+1G>C	ASS1	Single nucleotide variant (splice donor variant)	Citrullinemia	GLikely pathogenic
Select item 950355	NM_054012.4(ASS1):c.364-2A>T	ASS1	Single nucleotide variant (splice acceptor variant)	Citrullinemia type I +1 more	GLikely pathogenic
Select item 946916	NM_054012.4(ASS1):c.495+1G>T	ASS1	Single nucleotide variant (splice donor variant)	Citrullinemia	GLikely pathogenic
Select item 945859	NM_054012.4(ASS1):c.339T>G (p.Tyr113Ter)	ASS1 (Y113*)	Single nucleotide variant (nonsense)	Citrullinemia	GPathogenic
Select item 845376	NM_054012.4(ASS1):c.832del (p.Ser278fs)	ASS1 (S278fs)	Deletion (frameshift variant)	Citrullinemia	GPathogenic
Select item 840768	NM_054012.4(ASS1):c.846C>A (p.Tyr282Ter)	ASS1 (Y282*)	Single nucleotide variant (nonsense)	Citrullinemia type I +1 more	GPathogenic/Likely pathogenic
Select item 830468	NC_000009.12:g.(?_130479706)_(130480459_?)del	ASS1	Deletion	Citrullinemia type I	GLikely pathogenic
Select item 813462	NM_054012.4(ASS1):c.774-2A>G	ASS1	Single nucleotide variant (splice acceptor variant)	Citrullinemia type I +2 more	GPathogenic/Likely pathogenic
Select item 813460	NM_054012.4(ASS1):c.689-2A>C	ASS1	Single nucleotide variant (splice acceptor variant)	Citrullinemia type I +1 more	GPathogenic/Likely pathogenic
Select item 813409	NM_054012.4(ASS1):c.484dup (p.Glu162fs)	ASS1 (E162fs)	Duplication (frameshift variant)	Citrullinemia type I +1 more	GPathogenic
Select item 633047	NM_054012.4(ASS1):c.460_467del (p.Phe154fs)	ASS1 (F154fs)	Deletion (frameshift variant)	Citrullinemia type I +1 more	GPathogenic/Likely pathogenic
Select item 623334	NM_054012.4(ASS1):c.380G>A (p.Arg127Gln)	ASS1 (R127Q)	Single nucleotide variant (missense variant)	Citrullinemia type I +2 more	GPathogenic
Select item 623124	NM_054012.4(ASS1):c.174+1G>T	ASS1	Single nucleotide variant (splice donor variant)	Citrullinemia type I +1 more	GPathogenic/Likely pathogenic
Select item 573823	NM_054012.4(ASS1):c.319del (p.Gln107fs)	ASS1 (Q107fs)	Deletion (frameshift variant)	Citrullinemia +1 more	GPathogenic/Likely pathogenic
Select item 569667	NM_054012.4(ASS1):c.1075T>G (p.Tyr359Asp)	ASS1 (Y359D)	Single nucleotide variant (missense variant)	Citrullinemia	GPathogenic
Select item 558680	NM_054012.4(ASS1):c.951del (p.Phe317fs)	ASS1 (F317fs)	Deletion (frameshift variant)	Citrullinemia type I +1 more	GPathogenic/Likely pathogenic
Select item 555072	NM_054012.4(ASS1):c.838+1G>T	ASS1	Single nucleotide variant (splice donor variant)	Citrullinemia +1 more	GPathogenic/Likely pathogenic
Select item 553417	NM_054012.4(ASS1):c.379C>T (p.Arg127Trp)	ASS1 (R127W)	Single nucleotide variant (missense variant)	Citrullinemia type I	GConflicting classifications of pathogenicity
Select item 552773	NM_054012.4(ASS1):c.931C>T (p.Gln311Ter)	ASS1 (Q311*)	Single nucleotide variant (nonsense)	Citrullinemia type I +1 more	GPathogenic/Likely pathogenic
Select item 550398	NM_054012.4(ASS1):c.412dup (p.Gln138fs)	ASS1 (Q138fs)	Duplication (frameshift variant)	Citrullinemia +1 more	GPathogenic/Likely pathogenic
Select item 528374	NM_054012.4(ASS1):c.120del (p.Lys41fs)	ASS1 (K41fs)	Deletion (frameshift variant)	Citrullinemia	GPathogenic
Select item 528373	NM_054012.4(ASS1):c.1069C>T (p.Gln357Ter)	ASS1 (Q357*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 371254	NM_054012.4(ASS1):c.773+1G>A	ASS1	Single nucleotide variant (splice donor variant)	Citrullinemia type I +1 more	GPathogenic/Likely pathogenic
Select item 370508	NM_000050.4(ASS1):c.366delG	ASS1	Deletion (splice acceptor variant)	Citrullinemia type I +1 more	GPathogenic/Likely pathogenic
Select item 370237	NM_054012.4(ASS1):c.412C>T (p.Gln138Ter)	ASS1 (Q138*)	Single nucleotide variant (nonsense)	Citrullinemia type I +1 more	GPathogenic/Likely pathogenic
Select item 370236	NM_054012.4(ASS1):c.978del (p.Trp326fs)	ASS1 (W326fs)	Deletion (frameshift variant)	Citrullinemia +1 more	GPathogenic/Likely pathogenic
Select item 265961	NM_054012.4(ASS1):c.851C>T (p.Thr284Ile)	ASS1 (T284I)	Single nucleotide variant (missense variant)	Citrullinemia +1 more	GLikely pathogenic
Select item 208153	NM_054012.4(ASS1):c.571G>A (p.Glu191Lys)	ASS1 (E191K)	Single nucleotide variant (missense variant)	Citrullinemia type I +1 more	GPathogenic/Likely pathogenic
Select item 203632	NM_054012.4(ASS1):c.-4C>T	ASS1	Single nucleotide variant (5 prime UTR variant)	Citrullinemia +3 more	GConflicting classifications of pathogenicity
Select item 198386	NM_054012.4(ASS1):c.421-2A>G	ASS1	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic
Select item 189044	NM_054012.4(ASS1):c.450_451del (p.Phe150fs)	ASS1 (F150fs)	Deletion (frameshift variant)	Citrullinemia +1 more	GPathogenic/Likely pathogenic
Select item 188885	NM_054012.4(ASS1):c.1030C>T (p.Arg344Ter)	ASS1 (R344*)	Single nucleotide variant (nonsense)	Citrullinemia type I +1 more	GPathogenic/Likely pathogenic
Select item 188832	NM_054012.4(ASS1):c.892del (p.Glu298fs)	ASS1 (E298fs)	Deletion (frameshift variant)	Citrullinemia type I +2 more	GPathogenic/Likely pathogenic
Select item 188776	NM_054012.4(ASS1):c.1138C>T (p.Gln380Ter)	ASS1 (Q380*)	Single nucleotide variant (nonsense)	Citrullinemia +1 more	GPathogenic/Likely pathogenic
Select item 6333	NM_054012.4(ASS1):c.835C>T (p.Arg279Ter)	ASS1 (R279*)	Single nucleotide variant (nonsense)	Citrullinemia type I +1 more	GPathogenic/Likely pathogenic
Select item 6329	NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg)	ASS1 (G390R)	Single nucleotide variant (missense variant)	Citrullinemia type I +3 more	GPathogenic/Likely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from PubMed

Items: 82