ClinVar for MedGen (Select 104491) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3374960	NM_054012.4(ASS1):c.174+2T>C	ASS1	Single nucleotide variant (splice donor variant)	Citrullinemia	GLikely pathogenic
Select item 3338976	NM_054012.4(ASS1):c.880C>T (p.His294Tyr)	ASS1 (H294Y)	Single nucleotide variant (missense variant)	Citrullinemia	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 3022284	NM_054012.4(ASS1):c.663C>T (p.Asp221=)	ASS1	Single nucleotide variant (synonymous variant)	Citrullinemia	GLikely benign
Select item 3022278	NM_054012.4(ASS1):c.360A>G (p.Gly120=)	ASS1	Single nucleotide variant (synonymous variant)	Citrullinemia	GLikely benign
Select item 3019634	NM_054012.4(ASS1):c.105+14C>G	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 3015708	NM_054012.4(ASS1):c.198G>A (p.Arg66=)	ASS1	Single nucleotide variant (synonymous variant)	Citrullinemia	GLikely benign
Select item 3015248	NM_054012.4(ASS1):c.773+12C>T	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 3012916	NM_054012.4(ASS1):c.214T>A (p.Phe72Ile)	ASS1 (F72I)	Single nucleotide variant (missense variant)	Citrullinemia	GLikely pathogenic
Select item 3007828	NM_054012.4(ASS1):c.639A>G (p.Pro213=)	ASS1	Single nucleotide variant (synonymous variant)	Citrullinemia	GLikely benign
Select item 3001547	NM_054012.4(ASS1):c.942C>G (p.Gly314=)	ASS1	Single nucleotide variant (synonymous variant)	Citrullinemia	GLikely benign
Select item 2998123	NM_054012.4(ASS1):c.403C>T (p.Leu135=)	ASS1	Single nucleotide variant (synonymous variant)	Citrullinemia	GLikely benign
Select item 2995236	NM_054012.4(ASS1):c.153A>G (p.Ala51=)	ASS1	Single nucleotide variant (synonymous variant)	Citrullinemia	GLikely benign
Select item 2994843	NM_054012.4(ASS1):c.597+14C>A	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 2992910	NM_054012.4(ASS1):c.420+18C>G	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 2991818	NM_054012.4(ASS1):c.742T>C (p.Leu248=)	ASS1	Single nucleotide variant (synonymous variant)	Citrullinemia	GLikely benign
Select item 2989141	NM_054012.4(ASS1):c.598-9T>G	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 2985898	NM_054012.4(ASS1):c.838+14G>A	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 2977973	NM_054012.4(ASS1):c.1200G>A (p.Lys400=)	ASS1	Single nucleotide variant (synonymous variant)	Citrullinemia	GLikely benign
Select item 2977158	NM_054012.4(ASS1):c.496-20G>A	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 2975773	NM_054012.4(ASS1):c.363+17G>T	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 2975687	NM_054012.4(ASS1):c.1193+14G>C	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 2975031	NM_054012.4(ASS1):c.971-11C>T	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 2974050	NM_054012.4(ASS1):c.597+19T>A	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 2973447	NM_054012.4(ASS1):c.106-15G>T	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 2967448	NM_054012.4(ASS1):c.598-14_598-13del	ASS1	Deletion (intron variant)	Citrullinemia	GLikely benign
Select item 2964918	NM_054012.4(ASS1):c.175-19T>C	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 2962250	NM_054012.4(ASS1):c.981C>T (p.His327=)	ASS1	Single nucleotide variant (synonymous variant)	Citrullinemia	GLikely benign
Select item 2959603	NM_054012.4(ASS1):c.598-12_598-9del	ASS1	Deletion (intron variant)	Citrullinemia	GLikely benign
Select item 2915890	NM_054012.4(ASS1):c.1041G>A (p.Gly347=)	ASS1	Single nucleotide variant (synonymous variant)	Citrullinemia	GLikely benign
Select item 2914272	NM_054012.4(ASS1):c.363+20C>G	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 2911380	NM_054012.4(ASS1):c.117C>T (p.Gly39=)	ASS1	Single nucleotide variant (synonymous variant)	Citrullinemia	GLikely benign
Select item 2908190	NM_054012.4(ASS1):c.175-13C>T	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 2907930	NM_054012.4(ASS1):c.689-13C>T	ASS1, LOC110121061	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 2906964	NM_054012.4(ASS1):c.495+20C>T	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 2905907	NM_054012.4(ASS1):c.421-17C>G	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 2904817	NM_054012.4(ASS1):c.420+12C>T	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 2904649	NM_054012.4(ASS1):c.496-15_496-14del	ASS1	Deletion (intron variant)	Citrullinemia	GLikely benign
Select item 2900430	NM_054012.4(ASS1):c.838+16C>T	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 2897657	NM_054012.4(ASS1):c.774-20T>C	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 2897071	NM_054012.4(ASS1):c.839-19T>C	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 2896162	NM_054012.4(ASS1):c.1127+17_1127+27del	ASS1	Deletion (intron variant)	Citrullinemia	GLikely benign
Select item 2894357	NM_054012.4(ASS1):c.175-15CTC[3]	ASS1	Microsatellite (intron variant)	Citrullinemia	GLikely benign
Select item 2891487	NM_054012.4(ASS1):c.106-19C>G	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 2890925	NM_054012.4(ASS1):c.838+15C>A	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 2884479	NM_054012.4(ASS1):c.363+19G>T	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 2882679	NM_054012.4(ASS1):c.175-20C>T	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 2877802	NM_054012.4(ASS1):c.1130T>C (p.Met377Thr)	ASS1 (M377T)	Single nucleotide variant (missense variant)	Citrullinemia	GLikely pathogenic
Select item 2875177	NM_054012.4(ASS1):c.1125G>A (p.Val375=)	ASS1	Single nucleotide variant (synonymous variant)	Citrullinemia	GLikely benign
Select item 2872589	NM_054012.4(ASS1):c.598-20C>T	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 2871350	NM_054012.4(ASS1):c.363+1G>A	ASS1	Single nucleotide variant (splice donor variant)	Citrullinemia	GLikely pathogenic
Select item 2863658	NM_054012.4(ASS1):c.1193+18C>G	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 2862621	NM_054012.4(ASS1):c.486G>A (p.Glu162=)	ASS1	Single nucleotide variant (synonymous variant)	Citrullinemia	GLikely benign
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 2860599	NM_054012.4(ASS1):c.421-16C>T	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 2860150	NM_054012.4(ASS1):c.174+7G>A	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 2859510	NM_054012.4(ASS1):c.598-20C>G	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 2857249	NM_054012.4(ASS1):c.688+10_688+13dup	ASS1	Duplication (intron variant)	Citrullinemia	GLikely benign
Select item 2856594	NM_054012.4(ASS1):c.567-9C>A	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 2852692	NM_054012.4(ASS1):c.496-18G>T	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 2852349	NM_054012.4(ASS1):c.693C>T (p.Val231=)	ASS1	Single nucleotide variant (synonymous variant)	Citrullinemia	GLikely benign
Select item 2850360	NM_054012.4(ASS1):c.801C>T (p.Asp267=)	ASS1	Single nucleotide variant (synonymous variant)	Citrullinemia	GLikely benign
Select item 2850357	NM_054012.4(ASS1):c.970+11C>T	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 2845173	NM_054012.4(ASS1):c.495+7C>T	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 2840782	NM_054012.4(ASS1):c.567-20C>T	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 2838876	NM_054012.4(ASS1):c.1176C>T (p.Ile392=)	ASS1	Single nucleotide variant (synonymous variant)	Citrullinemia	GLikely benign
Select item 2838128	NM_054012.4(ASS1):c.1041G>T (p.Gly347=)	ASS1	Single nucleotide variant (synonymous variant)	Citrullinemia	GLikely benign
Select item 2836945	NM_054012.4(ASS1):c.496-5T>C	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 2835826	NM_054012.4(ASS1):c.106-14C>T	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 2835735	NM_054012.4(ASS1):c.174+16C>G	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 2834789	NM_054012.4(ASS1):c.688+16T>C	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 2833643	NM_054012.4(ASS1):c.496-16T>C	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 2832762	NM_054012.4(ASS1):c.105+7G>A	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 2831154	NM_054012.4(ASS1):c.774-15C>T	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 2830459	NM_054012.4(ASS1):c.421-18C>A	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 2827285	NM_054012.4(ASS1):c.42C>G (p.Gly14=)	ASS1	Single nucleotide variant (synonymous variant)	Citrullinemia	GLikely benign
Select item 2824860	NM_054012.4(ASS1):c.273C>G (p.Thr91=)	ASS1	Single nucleotide variant (synonymous 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 2821653	NM_054012.4(ASS1):c.199G>T (p.Glu67Ter)	ASS1 (E67*)	Single nucleotide variant (nonsense)	Citrullinemia	GPathogenic
Select item 2821584	NM_054012.4(ASS1):c.370G>T (p.Asp124Tyr)	ASS1 (D124Y)	Single nucleotide variant (missense variant)	Citrullinemia	GUncertain significance
Select item 2820666	NM_054012.4(ASS1):c.111C>T (p.Asn37=)	ASS1	Single nucleotide variant (synonymous variant)	Citrullinemia	GLikely benign
Select item 2819869	NM_054012.4(ASS1):c.566+14T>G	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 2814327	NM_054012.4(ASS1):c.364-7A>C	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 2810522	NM_054012.4(ASS1):c.1164C>T (p.Ala388=)	ASS1	Single nucleotide variant (synonymous variant)	Citrullinemia	GLikely benign
Select item 2807785	NM_054012.4(ASS1):c.180C>T (p.Phe60=)	ASS1	Single nucleotide variant (synonymous variant)	Citrullinemia	GLikely benign
Select item 2806036	NM_054012.4(ASS1):c.1127+18C>T	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 2805121	NM_054012.4(ASS1):c.1191C>G (p.Leu397=)	ASS1	Single nucleotide variant (synonymous variant)	Citrullinemia	GLikely benign
Select item 2803980	NM_054012.4(ASS1):c.773+1G>T	ASS1	Single nucleotide variant (splice donor variant)	Citrullinemia	GPathogenic
Select item 2795758	NM_054012.4(ASS1):c.689-10C>T	ASS1, LOC110121061	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 2794088	NM_054012.4(ASS1):c.186G>A (p.Glu62=)	ASS1	Single nucleotide variant (synonymous variant)	Citrullinemia	GLikely benign
Select item 2793367	NM_054012.4(ASS1):c.1127+10C>T	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 2782978	NM_054012.4(ASS1):c.1193+8G>A	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 2781142	NM_054012.4(ASS1):c.774-5C>G	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 2780601	NM_054012.4(ASS1):c.495+20C>G	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign

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