C4721769[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 802338	NM_014251.3(SLC25A13):c.848+1G>T	SLC25A13	Single nucleotide variant (splice donor variant)	Citrin deficiency +2 more	GPathogenic/Likely pathogenic
Select item 193371	NM_014251.3(SLC25A13):c.2T>C (p.Met1Thr)	LOC129998833, SLC25A13 (M1T)	Single nucleotide variant (missense variant +2 more)	Citrullinemia, type II, adult-onset +6 more	GUncertain significance
Select item 582173	NM_054012.4(ASS1):c.19G>A (p.Val7Met)	ASS1 (V7M)	Single nucleotide variant (missense variant)	Citrullinemia type I +3 more	GUncertain significance
Select item 6324	NM_054012.4(ASS1):c.40G>A (p.Gly14Ser)	ASS1 (G14S)	Single nucleotide variant (missense variant)	Citrullinemia +1 more	GPathogenic/Likely 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 2679009	NM_054012.4(ASS1):c.69G>A (p.Trp23Ter)	ASS1 (W23*)	Single nucleotide variant (nonsense)	Citrullinemia type I	GLikely pathogenic
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 553393	NM_054012.4(ASS1):c.173dup (p.Val59fs)	ASS1 (V59fs)	Duplication (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 1457481	NM_054012.4(ASS1):c.174+1G>A	ASS1	Single nucleotide variant (splice donor variant)	Citrullinemia +1 more	GPathogenic
Select item 623124	NM_054012.4(ASS1):c.174+1G>T	ASS1	Single nucleotide variant (splice donor variant)	Citrullinemia +1 more	GPathogenic/Likely pathogenic
Select item 847924	NM_054012.4(ASS1):c.175-1119G>A	ASS1	Single nucleotide variant (intron variant)	Citrullinemia +1 more	GPathogenic/Likely pathogenic
Select item 2678996	NM_054012.4(ASS1):c.246del (p.Tyr83fs)	ASS1 (Y83fs)	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 265960	NM_054012.4(ASS1):c.257G>A (p.Arg86His)	ASS1 (R86H)	Single nucleotide variant (missense variant)	Citrullinemia +2 more	GPathogenic/Likely pathogenic
Select item 813404	NM_054012.4(ASS1):c.262del (p.Leu88fs)	ASS1 (L88fs)	Deletion (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 2136821	NM_054012.4(ASS1):c.271A>C (p.Thr91Pro)	ASS1 (T91P)	Single nucleotide variant (missense variant)	Citrullinemia +1 more	GPathogenic
Select item 2679022	NM_054012.4(ASS1):c.285del (p.Arg95fs)	ASS1 (R95fs)	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 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 813405	NM_054012.4(ASS1):c.350G>A (p.Gly117Asp)	ASS1 (G117D)	Single nucleotide variant (missense variant)	Citrullinemia +1 more	GPathogenic/Likely pathogenic
Select item 813406	NM_054012.4(ASS1):c.352G>A (p.Ala118Thr)	ASS1 (A118T)	Single nucleotide variant (missense variant)	Citrullinemia +2 more	GPathogenic
Select item 939977	NM_054012.4(ASS1):c.356C>T (p.Thr119Ile)	ASS1 (T119I)	Single nucleotide variant (missense variant)	Citrullinemia type I +1 more	GPathogenic/Likely 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 950355	NM_054012.4(ASS1):c.364-2A>T	ASS1	Single nucleotide variant (splice acceptor variant)	Citrullinemia +1 more	GLikely pathogenic
Select item 458673	NM_054012.4(ASS1):c.370G>A (p.Asp124Asn)	ASS1 (D124N)	Single nucleotide variant (missense variant)	Citrullinemia +1 more	GPathogenic
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 623334	NM_054012.4(ASS1):c.380G>A (p.Arg127Gln)	ASS1 (R127Q)	Single nucleotide variant (missense variant)	Citrullinemia +2 more	GPathogenic
Select item 2679093	NM_054012.4(ASS1):c.391_398del (p.Ser131fs)	ASS1 (S131fs)	Deletion (frameshift variant)	Citrullinemia type I	GLikely pathogenic
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 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 3240610	NM_054012.4(ASS1):c.413del (p.Gln138fs)	ASS1 (Q138fs)	Deletion (frameshift variant)	Citrullinemia type I	GLikely pathogenic
Select item 813407	NM_054012.4(ASS1):c.421-2A>C	ASS1	Single nucleotide variant (splice acceptor variant)	Citrullinemia type I	GLikely pathogenic
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 2679063	NM_054012.4(ASS1):c.431C>G (p.Pro144Arg)	ASS1 (P144R)	Single nucleotide variant (missense variant)	Citrullinemia type I +1 more	GConflicting classifications of pathogenicity
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 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 813408	NM_054012.4(ASS1):c.469C>T (p.Arg157Cys)	ASS1 (R157C)	Single nucleotide variant (missense variant)	Citrullinemia +1 more	GPathogenic
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 813409	NM_054012.4(ASS1):c.484dup (p.Glu162fs)	ASS1 (E162fs)	Duplication (frameshift 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 458674	NM_054012.4(ASS1):c.539G>T (p.Ser180Ile)	ASS1 (S180I)	Single nucleotide variant (missense variant)	Citrullinemia +2 more	GLikely pathogenic
Select item 6326	NM_054012.4(ASS1):c.539G>A (p.Ser180Asn)	ASS1 (S180N)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 379598	NM_054012.4(ASS1):c.566+1G>T	ASS1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2678946	NM_054012.4(ASS1):c.571G>C (p.Glu191Gln)	ASS1 (E191Q)	Single nucleotide variant (missense variant)	Citrullinemia type I +1 more	GPathogenic/Likely 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 579438	NM_054012.4(ASS1):c.577G>A (p.Gly193Arg)	ASS1 (G193R)	Single nucleotide variant (missense variant)	Citrullinemia type I +1 more	GConflicting classifications of pathogenicity
Select item 92371	NM_054012.4(ASS1):c.605C>A (p.Ala202Glu)	ASS1 (A202E)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2860934	NM_054012.4(ASS1):c.631C>T (p.Gln211Ter)	ASS1 (Q211*)	Single nucleotide variant (nonsense)	Citrullinemia +1 more	GPathogenic/Likely pathogenic
Select item 813410	NM_054012.4(ASS1):c.647C>A (p.Ala216Asp)	ASS1 (A216D)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 813460	NM_054012.4(ASS1):c.689-2A>C	ASS1	Single nucleotide variant (splice acceptor variant)	Citrullinemia +1 more	GPathogenic/Likely pathogenic
Select item 225298	NM_054012.4(ASS1):c.689G>C (p.Gly230Ala)	ASS1 (G230A)	Single nucleotide variant (missense variant)	Citrullinemia type I	GLikely pathogenic
Select item 3240653	NM_054012.4(ASS1):c.726del (p.Thr243fs)	ASS1 (T243fs)	Deletion (frameshift variant)	Citrullinemia type I	GLikely pathogenic
Select item 813461	NM_054012.4(ASS1):c.759C>A (p.Tyr253Ter)	ASS1 (Y253*)	Single nucleotide variant (nonsense)	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 2081172	NM_054012.4(ASS1):c.773+4A>C	ASS1	Single nucleotide variant (intron 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 2679034	NM_054012.4(ASS1):c.774-2del	ASS1	Deletion (splice acceptor variant)	Citrullinemia type I	GLikely pathogenic
Select item 813462	NM_054012.4(ASS1):c.774-2A>G	ASS1	Single nucleotide variant (splice acceptor variant)	Citrullinemia +2 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 92373	NM_054012.4(ASS1):c.793C>T (p.Arg265Cys)	ASS1 (R265C)	Single nucleotide variant (missense variant)	Citrullinemia +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 1034022	NM_054012.4(ASS1):c.812dup (p.Asn271fs)	ASS1 (N271fs)	Duplication (frameshift variant)	Citrullinemia +1 more	GPathogenic/Likely pathogenic
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 2679049	NM_054012.4(ASS1):c.815G>T (p.Arg272Leu)	ASS1 (R272L)	Single nucleotide variant (missense variant)	Citrullinemia type I	GLikely pathogenic
Select item 2501087	NM_054012.4(ASS1):c.815G>A (p.Arg272His)	ASS1 (R272H)	Single nucleotide variant (missense variant)	Citrullinemia +1 more	GPathogenic
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 2679031	NM_054012.4(ASS1):c.839-1G>A	ASS1	Single nucleotide variant (splice acceptor variant)	Citrullinemia type I	GLikely pathogenic
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 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 2679029	NM_054012.4(ASS1):c.848del (p.Glu283fs)	ASS1 (E283fs)	Deletion (frameshift variant)	Citrullinemia type I	GPathogenic
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 1435108	NM_054012.4(ASS1):c.892G>A (p.Glu298Lys)	ASS1 (E298K)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +2 more	GConflicting classifications of pathogenicity
Select item 188832	NM_054012.4(ASS1):c.892del (p.Glu298fs)	ASS1 (E298fs)	Deletion (frameshift variant)	Citrullinemia +2 more	GPathogenic/Likely pathogenic
Select item 2678957	NM_054012.4(ASS1):c.907del (p.Asp303fs)	ASS1 (D303fs)	Deletion (frameshift variant)	Citrullinemia type I	GLikely pathogenic
Select item 6330	NM_054012.4(ASS1):c.910C>T (p.Arg304Trp)	ASS1 (R304W)	Single nucleotide variant (missense variant)	Citrullinemia +2 more	GPathogenic
Select item 970822	NM_054012.4(ASS1):c.911G>A (p.Arg304Gln)	ASS1 (R304Q)	Single nucleotide variant (missense variant)	Citrullinemia type I +1 more	GLikely pathogenic
Select item 265044	NM_054012.4(ASS1):c.919C>T (p.Arg307Cys)	ASS1 (R307C)	Single nucleotide variant (missense variant)	Citrullinemia +2 more	GConflicting classifications of pathogenicity
Select item 365260	NM_054012.4(ASS1):c.929A>G (p.Lys310Arg)	ASS1 (K310R)	Single nucleotide variant (missense variant)	not specified +3 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 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 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 458676	NM_054012.4(ASS1):c.971G>T (p.Gly324Val)	ASS1 (G324V)	Single nucleotide variant (missense variant)	Citrullinemia type I +1 more	GPathogenic/Likely pathogenic
Select item 2679053	NM_054012.4(ASS1):c.992_997delinsA (p.Cys331fs)	ASS1 (C331fs)	Indel (frameshift variant)	Citrullinemia type I	GLikely pathogenic
Select item 528370	NM_054012.4(ASS1):c.1003C>T (p.Arg335Cys)	ASS1 (R335C)	Single nucleotide variant (missense variant)	Citrullinemia type I +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 2679080	NM_054012.4(ASS1):c.1047del (p.Gln350fs)	ASS1 (Q350fs)	Deletion (frameshift variant)	Citrullinemia type I	GLikely pathogenic
Select item 1071097	NM_054012.4(ASS1):c.1048C>T (p.Gln350Ter)	ASS1 (Q350*)	Single nucleotide variant (nonsense)	Citrullinemia +1 more	GPathogenic
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 813463	NM_054012.4(ASS1):c.1075del (p.Tyr359fs)	ASS1 (Y359fs)	Deletion (frameshift variant)	Citrullinemia type I	GLikely pathogenic
Select item 6336	NM_054012.4(ASS1):c.1085G>T (p.Gly362Val)	ASS1 (G362V)	Single nucleotide variant (missense variant)	Citrullinemia +2 more	GPathogenic

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