ClinVar for Gene (Select 435) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3347046	NM_000048.4(ASL):c.622C>T (p.Pro208Ser)	ASL (P182S +1 more)	Single nucleotide variant (missense variant)	ASL-related disorder	GUncertain significance
Select item 3345849	NM_000048.4(ASL):c.381G>C (p.Gln127His)	ASL (Q127H)	Single nucleotide variant (missense variant)	ASL-related disorder	GUncertain significance
Select item 3340011	NM_000048.4(ASL):c.650G>A (p.Arg217Gln)	ASL (R191Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251306	NM_000048.4(ASL):c.1250+5G>A	ASL	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3250959	NM_000048.4(ASL):c.680T>C (p.Leu227Pro)	ASL (L201P +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3245720	NC_000007.13:g.(?_65541069)_(65548181_?)del	ASL	Deletion	Argininosuccinate lyase deficiency	GPathogenic
Select item 3245719	NC_000007.13:g.(?_65556973)_(65557899_?)del	ASL	Deletion	Argininosuccinate lyase deficiency	GPathogenic
Select item 3245718	NC_000007.13:g.(?_65541069)_(65541100_?)del	ASL	Deletion	Argininosuccinate lyase deficiency	GPathogenic
Select item 3240503	NM_000048.4(ASL):c.672dup (p.Ile225fs)	ASL (I199fs +1 more)	Duplication (frameshift variant)	Argininosuccinate lyase deficiency	GLikely pathogenic
Select item 3240483	NM_000048.4(ASL):c.656-2A>T	ASL	Single nucleotide variant (splice acceptor variant)	Argininosuccinate lyase deficiency	GLikely pathogenic
Select item 3240461	NM_000048.4(ASL):c.206A>G (p.Lys69Arg)	ASL (K69R)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GLikely pathogenic
Select item 3240449	NM_000048.4(ASL):c.525-1G>A	ASL	Single nucleotide variant (splice acceptor variant +1 more)	Argininosuccinate lyase deficiency	GLikely pathogenic
Select item 3239704	NM_000048.4(ASL):c.10dup (p.Glu4fs)	ASL, LOC129998526 (E4fs)	Duplication (frameshift variant)	Argininosuccinate lyase deficiency	GLikely pathogenic
Select item 3239623	GRCh37/hg19 7q11.21(chr7:65556993-65557899)x1	ASL	Copy number loss	not provided	GLikely pathogenic
Select item 3237468	NM_000048.4(ASL):c.778C>T (p.Leu260Phe)	ASL (L234F +1 more)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GLikely pathogenic
Select item 3237464	NM_000048.4(ASL):c.623C>G (p.Pro208Arg)	ASL (P182R +1 more)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GLikely pathogenic
Select item 3233927	NC_000007.13:g.(65548162_65551571)_(65558564_?)dup	ASL	Duplication	not specified	GUncertain significance
Select item 3233473	NM_000048.4(ASL):c.1339A>C (p.Ser447Arg)	ASL (S421R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130394	NM_000048.4(ASL):c.1291G>T (p.Gly431Trp)	ASL (G431W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130393	NM_000048.4(ASL):c.1201A>G (p.Lys401Glu)	ASL (K381E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130391	NM_000048.4(ASL):c.1099G>A (p.Asp367Asn)	ASL (D347N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067918	NM_000048.4(ASL):c.269C>A (p.Thr90Lys)	ASL (T90K)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GUncertain significance
Select item 3064938	NM_000048.4(ASL):c.1143+1del	ASL	Deletion (splice donor variant)	Argininosuccinate lyase deficiency	GLikely pathogenic
Select item 3064460	NM_000048.4(ASL):c.944A>G (p.Lys315Arg)	ASL (K289R +1 more)	Single nucleotide variant (missense variant +1 more)	Argininosuccinate lyase deficiency	GUncertain significance
Select item 3032644	NM_000048.4(ASL):c.407T>C (p.Leu136Pro)	ASL (L136P)	Single nucleotide variant (missense variant)	ASL-related disorder	GUncertain significance
Select item 3024136	NM_000048.4(ASL):c.343G>T (p.Asp115Tyr)	ASL (D115Y)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GLikely pathogenic
Select item 3021550	NM_000048.4(ASL):c.822A>G (p.Ser274=)	ASL	Single nucleotide variant (synonymous variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 3018884	NM_000048.4(ASL):c.979-13A>G	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 3017808	NM_000048.4(ASL):c.48A>G (p.Ala16=)	ASL	Single nucleotide variant (synonymous variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 3017410	NM_000048.4(ASL):c.834-6C>T	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 3016359	NM_000048.4(ASL):c.718+7C>T	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 3014888	NM_000048.4(ASL):c.978+15G>A	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 3013786	NM_000048.4(ASL):c.1063-12C>T	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 3011645	NM_000048.4(ASL):c.638G>C (p.Arg213Pro)	ASL (R187P +1 more)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GLikely pathogenic
Select item 3011168	NM_000048.4(ASL):c.349-18C>T	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 3011124	NM_000048.4(ASL):c.1251-10C>T	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 3009222	NM_000048.4(ASL):c.1143+18del	ASL	Deletion (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 3008012	NM_000048.4(ASL):c.1228C>T (p.Leu410=)	ASL	Single nucleotide variant (synonymous variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 3007532	NM_000048.4(ASL):c.602+18G>T	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 3007038	NM_000048.4(ASL):c.13-7T>C	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 3005697	NM_000048.4(ASL):c.1098dup (p.Asp367fs)	ASL (D367fs +2 more)	Duplication (frameshift variant)	Argininosuccinate lyase deficiency	GPathogenic
Select item 3001623	NM_000048.4(ASL):c.426C>T (p.Thr142=)	ASL	Single nucleotide variant (synonymous variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 3000966	NM_000048.4(ASL):c.447-18G>C	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2999880	NM_000048.4(ASL):c.1062+13C>T	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2994212	NM_000048.4(ASL):c.524+16T>C	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2990390	NM_000048.4(ASL):c.1062+17C>G	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2989277	NM_000048.4(ASL):c.919-10_919-9del	ASL	Microsatellite (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2985714	NM_000048.4(ASL):c.918+18A>G	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2985662	NM_000048.4(ASL):c.348+19C>T	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2972969	NM_000048.4(ASL):c.1050C>T (p.Ile350=)	ASL	Single nucleotide variant (synonymous variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2969920	NM_000048.4(ASL):c.292-12C>T	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2960310	NM_000048.4(ASL):c.919-20G>A	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2958287	NM_000048.4(ASL):c.292-18G>A	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2957312	NM_000048.4(ASL):c.656-10_656-7del	ASL	Deletion (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2955665	NM_000048.4(ASL):c.471G>T (p.Gly157=)	ASL	Single nucleotide variant (synonymous variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2955131	NM_000048.4(ASL):c.656-13C>T	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2919366	NM_000048.4(ASL):c.324C>T (p.His108=)	ASL	Single nucleotide variant (synonymous variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2918000	NM_000048.4(ASL):c.207+9C>A	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2916782	NM_000048.4(ASL):c.349-9C>G	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2914222	NM_000048.4(ASL):c.655+16C>T	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2912139	NM_000048.4(ASL):c.1250+8C>T	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2912118	NM_000048.4(ASL):c.918+12del	ASL	Deletion (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2911699	NM_000048.4(ASL):c.1144-14T>A	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2911502	NM_000048.4(ASL):c.871G>A (p.Asp291Asn)	ASL (D265N +1 more)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GUncertain significance
Select item 2911167	NM_000048.4(ASL):c.833+19C>T	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2910010	NM_000048.4(ASL):c.525-11G>A	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2909931	NM_000048.4(ASL):c.1062+16C>A	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2909128	NM_000048.4(ASL):c.603-14C>T	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2905964	NM_000048.4(ASL):c.1062+12C>T	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2905562	NM_000048.4(ASL):c.12+14C>T	ASL, LOC129998526	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2903755	NM_000048.4(ASL):c.1227A>G (p.Ser409=)	ASL	Single nucleotide variant (synonymous variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2902309	NM_000048.4(ASL):c.718+20T>C	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2901468	NM_000048.4(ASL):c.207+18A>G	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2898991	NM_000048.4(ASL):c.348+12C>T	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2898137	NM_000048.4(ASL):c.1194C>A (p.Ala398=)	ASL	Single nucleotide variant (synonymous variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2897919	NM_000048.4(ASL):c.711C>T (p.Asp237=)	ASL	Single nucleotide variant (synonymous variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2897747	NM_000048.4(ASL):c.1063-14_1063-5del	ASL	Deletion (intron variant)	Argininosuccinate lyase deficiency	GUncertain significance
Select item 2895610	NM_000048.4(ASL):c.1062+17dup	ASL	Duplication (intron variant)	Argininosuccinate lyase deficiency	GBenign
Select item 2895574	NM_000048.4(ASL):c.1063-14A>T	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2891629	NM_000048.4(ASL):c.348+18C>G	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2889629	NM_000048.4(ASL):c.1144-19C>T	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2889164	NM_000048.4(ASL):c.1144-15C>T	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2887345	NM_000048.4(ASL):c.1063-19C>T	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2885241	NM_000048.4(ASL):c.602+22del	ASL	Deletion (intron variant)	Argininosuccinate lyase deficiency	GBenign
Select item 2884436	NM_000048.4(ASL):c.834-12C>T	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2880257	NM_000048.4(ASL):c.810C>T (p.Phe270=)	ASL	Single nucleotide variant (synonymous variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2877099	NM_000048.4(ASL):c.291+17C>A	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2870249	NM_000048.4(ASL):c.1065T>A (p.Ile355=)	ASL	Single nucleotide variant (synonymous variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2867298	NM_000048.4(ASL):c.718+1G>A	ASL	Single nucleotide variant (splice donor variant)	Argininosuccinate lyase deficiency	GLikely pathogenic
Select item 2866502	NM_000048.4(ASL):c.1251-8C>T	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2864572	NM_000048.4(ASL):c.51G>A (p.Val17=)	ASL	Single nucleotide variant (synonymous variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2858166	NM_000048.4(ASL):c.1062+7C>G	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2853137	NM_000048.4(ASL):c.12+20C>A	ASL, LOC129998526	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2851986	NM_000048.4(ASL):c.144C>T (p.Gly48=)	ASL	Single nucleotide variant (synonymous variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2851810	NM_000048.4(ASL):c.145C>A (p.Leu49Met)	ASL (L49M)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GUncertain significance
Select item 2849933	NM_000048.4(ASL):c.12+17G>A	ASL, LOC129998526	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2849900	NM_000048.4(ASL):c.291+17C>G	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2848818	NM_000048.4(ASL):c.1068C>T (p.His356=)	ASL	Single nucleotide variant (synonymous variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2848479	NM_000048.4(ASL):c.603-12C>T	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2847542	NM_000048.4(ASL):c.549C>T (p.Asp183=)	ASL	Single nucleotide variant (synonymous variant +1 more)	Argininosuccinate lyase deficiency	GLikely benign

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