C4721769[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 528372	NM_054012.4(ASS1):c.-5-10C>G	ASS1	Single nucleotide variant (intron variant)	Citrullinemia type I +2 more	GUncertain significance
Select item 550341	NM_054012.4(ASS1):c.1A>G (p.Met1Val)	ASS1 (M1V)	Single nucleotide variant (missense variant +1 more)	Citrullinemia type I	GLikely pathogenic
Select item 371044	NM_054012.4(ASS1):c.3G>A (p.Met1Ile)	ASS1 (M1I)	Single nucleotide variant (missense variant +1 more)	Citrullinemia type I	GLikely pathogenic
Select item 6331	NM_054012.4(ASS1):c.53C>T (p.Ser18Leu)	ASS1 (S18L)	Single nucleotide variant (missense variant)	Citrullinemia type I +1 more	GPathogenic/Likely pathogenic
Select item 553393	NM_054012.4(ASS1):c.173dup (p.Val59fs)	ASS1 (V59fs)	Duplication (frameshift variant)	Citrullinemia type I	GLikely pathogenic
Select item 518136	NM_054012.4(ASS1):c.175-16G>T	ASS1	Single nucleotide variant (intron variant)	Citrullinemia +2 more	GConflicting classifications of pathogenicity
Select item 554797	NM_054012.4(ASS1):c.175-1G>A	ASS1	Single nucleotide variant (splice acceptor variant)	Citrullinemia type I	GLikely pathogenic
Select item 554322	NM_054012.4(ASS1):c.190G>A (p.Val64Ile)	ASS1 (V64I)	Single nucleotide variant (missense variant)	Citrullinemia +1 more	GUncertain significance
Select item 551465	NM_054012.4(ASS1):c.216C>G (p.Phe72Leu)	ASS1 (F72L)	Single nucleotide variant (missense variant)	Citrullinemia +1 more	GConflicting classifications of pathogenicity
Select item 370638	NM_054012.4(ASS1):c.226del (p.Ala76fs)	ASS1 (A76fs)	Deletion (frameshift variant)	Citrullinemia type I	GLikely pathogenic
Select item 6332	NM_054012.4(ASS1):c.256C>T (p.Arg86Cys)	ASS1 (R86C)	Single nucleotide variant (missense variant)	Citrullinemia +2 more	GPathogenic
Select item 426661	NM_054012.4(ASS1):c.262C>A (p.Leu88Ile)	ASS1 (L88I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 555071	NM_054012.4(ASS1):c.291C>A (p.Cys97Ter)	ASS1 (C97*)	Single nucleotide variant (nonsense)	Citrullinemia type I	GLikely pathogenic
Select item 553910	NM_054012.4(ASS1):c.298C>T (p.Arg100Cys)	ASS1 (R100C)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 439417	NM_054012.4(ASS1):c.299G>A (p.Arg100His)	ASS1 (R100H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 6334	NM_054012.4(ASS1):c.323G>T (p.Arg108Leu)	ASS1 (R108L)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 556029	NM_054012.4(ASS1):c.349G>A (p.Gly117Ser)	ASS1 (G117S)	Single nucleotide variant (missense 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 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 550586	NM_054012.4(ASS1):c.380G>T (p.Arg127Leu)	ASS1 (R127L)	Single nucleotide variant (missense variant)	Citrullinemia type I +1 more	GPathogenic/Likely pathogenic
Select item 558140	NM_054012.4(ASS1):c.406_414del (p.Ala136_Gln138del)	ASS1	Deletion (inframe_deletion)	Citrullinemia +1 more	GUncertain significance
Select item 550398	NM_054012.4(ASS1):c.412dup (p.Gln138fs)	ASS1 (Q138fs)	Duplication (frameshift 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 +1 more	GPathogenic/Likely pathogenic
Select item 555985	NM_054012.4(ASS1):c.420+1G>A	ASS1	Single nucleotide variant (splice donor variant)	Citrullinemia type I	GLikely pathogenic
Select item 189044	NM_054012.4(ASS1):c.450_451del (p.Phe150fs)	ASS1 (F150fs)	Deletion (frameshift variant)	Citrullinemia type I +1 more	GPathogenic/Likely pathogenic
Select item 6325	NM_054012.4(ASS1):c.470G>A (p.Arg157His)	ASS1 (R157H)	Single nucleotide variant (missense variant)	Citrullinemia +1 more	GPathogenic
Select item 92368	NM_054012.4(ASS1):c.496-2A>G	ASS1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 6335	NM_054012.4(ASS1):c.535T>C (p.Trp179Arg)	ASS1 (W179R)	Single nucleotide variant (missense variant)	Citrullinemia +2 more	GPathogenic
Select item 553214	NM_054012.4(ASS1):c.559_566+13del	ASS1	Deletion (splice donor variant)	Citrullinemia type I	GLikely pathogenic
Select item 365257	NM_054012.4(ASS1):c.566+11C>T	ASS1	Single nucleotide variant (intron variant)	Citrullinemia +1 more	GConflicting classifications of pathogenicity
Select item 371423	NM_054012.4(ASS1):c.567-1G>T	ASS1	Single nucleotide variant (splice acceptor variant)	Citrullinemia type I	GLikely pathogenic
Select item 208153	NM_054012.4(ASS1):c.571G>A (p.Glu191Lys)	ASS1 (E191K)	Single nucleotide variant (missense variant)	Citrullinemia +1 more	GPathogenic/Likely pathogenic
Select item 552351	NM_054012.4(ASS1):c.598-2_599dup	ASS1	Duplication (splice acceptor variant)	Citrullinemia type I	GUncertain significance
Select item 552805	NM_054012.4(ASS1):c.688+1_688+5del	ASS1	Deletion (splice donor variant)	Citrullinemia type I	GLikely pathogenic
Select item 554197	NM_054012.4(ASS1):c.773C>T (p.Ala258Val)	ASS1 (A258V)	Single nucleotide variant (missense variant)	Citrullinemia +1 more	GConflicting classifications of pathogenicity
Select item 371254	NM_054012.4(ASS1):c.773+1G>A	ASS1	Single nucleotide variant (splice donor variant)	Citrullinemia +1 more	GPathogenic/Likely pathogenic
Select item 265958	NM_054012.4(ASS1):c.773+49C>T	ASS1	Single nucleotide variant (intron variant)	Citrullinemia +1 more	GPathogenic/Likely pathogenic
Select item 92372	NM_054012.4(ASS1):c.787G>A (p.Val263Met)	ASS1 (V263M)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 92374	NM_054012.4(ASS1):c.794G>A (p.Arg265His)	ASS1 (R265H)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 193968	NM_054012.4(ASS1):c.805G>A (p.Val269Met)	ASS1 (V269M)	Single nucleotide variant (missense variant)	Citrullinemia type I +2 more	GPathogenic/Likely pathogenic
Select item 557173	NM_054012.4(ASS1):c.808G>C (p.Glu270Gln)	ASS1 (E270Q)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 371132	NM_054012.4(ASS1):c.814C>T (p.Arg272Cys)	ASS1 (R272C)	Single nucleotide variant (missense variant)	Citrullinemia +1 more	GPathogenic
Select item 557645	NM_054012.4(ASS1):c.823G>T (p.Gly275Ter)	ASS1 (G275*)	Single nucleotide variant (nonsense)	Citrullinemia type I	GLikely pathogenic
Select item 6333	NM_054012.4(ASS1):c.835C>T (p.Arg279Ter)	ASS1 (R279*)	Single nucleotide variant (nonsense)	Citrullinemia +1 more	GPathogenic/Likely pathogenic
Select item 92375	NM_054012.4(ASS1):c.836G>A (p.Arg279Gln)	ASS1 (R279Q)	Single nucleotide variant (missense variant)	not provided +2 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 430139	NM_054012.4(ASS1):c.847G>A (p.Glu283Lys)	ASS1 (E283K)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 188832	NM_054012.4(ASS1):c.892del (p.Glu298fs)	ASS1 (E298fs)	Deletion (frameshift variant)	Citrullinemia +2 more	GPathogenic/Likely pathogenic
Select item 6339	NM_054012.4(ASS1):c.928A>C (p.Lys310Gln)	ASS1 (K310Q)	Single nucleotide variant (missense variant)	Citrullinemia +1 more	GConflicting classifications of pathogenicity
Select item 552773	NM_054012.4(ASS1):c.931C>T (p.Gln311Ter)	ASS1 (Q311*)	Single nucleotide variant (nonsense)	Citrullinemia +1 more	GPathogenic/Likely pathogenic
Select item 558680	NM_054012.4(ASS1):c.951del (p.Phe317fs)	ASS1 (F317fs)	Deletion (frameshift variant)	Citrullinemia +1 more	GPathogenic/Likely pathogenic
Select item 166703	NM_054012.4(ASS1):c.961G>A (p.Val321Met)	ASS1 (V321M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 6327	NM_054012.4(ASS1):c.970G>A (p.Gly324Ser)	ASS1 (G324S)	Single nucleotide variant (missense variant)	Citrullinemia +2 more	GPathogenic/Likely pathogenic
Select item 558145	NM_054012.4(ASS1):c.970+1G>A	ASS1	Single nucleotide variant (splice donor variant)	Citrullinemia type I	GLikely pathogenic
Select item 265962	NM_054012.4(ASS1):c.970+5G>A	ASS1	Single nucleotide variant (intron variant)	See cases +3 more	GPathogenic/Likely pathogenic
Select item 551358	NM_054012.4(ASS1):c.971-1G>A	ASS1	Single nucleotide variant (splice acceptor variant)	Citrullinemia type I	GLikely 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 555009	NM_054012.4(ASS1):c.1004G>A (p.Arg335His)	ASS1 (R335H)	Single nucleotide variant (missense variant)	Citrullinemia +1 more	GConflicting classifications of pathogenicity
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 556089	NM_054012.4(ASS1):c.1067G>T (p.Gly356Val)	ASS1 (G356V)	Single nucleotide variant (missense variant)	Citrullinemia type I	GUncertain significance
Select item 528373	NM_054012.4(ASS1):c.1069C>T (p.Gln357Ter)	ASS1 (Q357*)	Single nucleotide variant (nonsense)	Citrullinemia type I +2 more	GPathogenic/Likely pathogenic
Select item 371603	NM_054012.4(ASS1):c.1127+1G>A	ASS1	Single nucleotide variant (splice donor variant)	Citrullinemia type I	GLikely pathogenic
Select item 188776	NM_054012.4(ASS1):c.1138C>T (p.Gln380Ter)	ASS1 (Q380*)	Single nucleotide variant (nonsense)	Citrullinemia type I +1 more	GPathogenic/Likely pathogenic
Select item 556855	NM_054012.4(ASS1):c.1139del (p.Gln380fs)	ASS1 (Q380fs)	Deletion (frameshift variant)	Citrullinemia type I	GLikely pathogenic
Select item 432044	NM_054012.4(ASS1):c.1173C>A (p.Phe391Leu)	ASS1 (F391L)	Single nucleotide variant (missense variant)	Citrullinemia +2 more	GConflicting classifications of pathogenicity
Select item 166704	NM_054012.4(ASS1):c.1194-1G>C	ASS1	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic
Select item 551212	NM_054012.4(ASS1):c.1208_1213del (p.His403_Arg404del)	ASS1	Deletion (inframe_deletion)	Citrullinemia type I	GUncertain significance

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Items: 67