"GeneDx"[submitter] AND "ASS1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59907	GRCh38/hg38 9q34.11(chr9:129036400-130578683)x3	ASB6, ASS1 +135 more	Copy number gain	See cases	GPathogenic
Select item 59135	GRCh38/hg38 9q34.11-34.13(chr9:129949815-132342490)x1	LOC130002822, LOC130002823 +160 more	Copy number loss	See cases	GPathogenic
Select item 365240	NM_000050.4(ASS1):c.-323G>T	ASS1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 517811	NM_000050.4(ASS1):c.-113_-112delinsTT	ASS1	Indel (5 prime UTR variant)	not specified	GLikely benign
Select item 511622	NM_054012.4(ASS1):c.-10G>A	ASS1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1328790	NM_054012.4(ASS1):c.-6+44G>C	ASS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1249407	NM_054012.4(ASS1):c.-6+67A>C	ASS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 390066	NM_054012.4(ASS1):c.-5-1915C>T	ASS1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 382981	NM_054012.4(ASS1):c.-5-1904G>A	ASS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 381450	NM_054012.4(ASS1):c.-5-1883C>T	ASS1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1204545	NM_054012.4(ASS1):c.-5-300G>A	ASS1, LOC124310668	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207249	NM_054012.4(ASS1):c.-5-215G>A	ASS1, LOC124310668	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683297	NM_054012.4(ASS1):c.-5-172T>C	ASS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1214955	NM_054012.4(ASS1):c.-5-93C>T	ASS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214683	NM_054012.4(ASS1):c.-5-41C>T	ASS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 203632	NM_054012.4(ASS1):c.-4C>T	ASS1	Single nucleotide variant (5 prime UTR variant)	not specified +3 more	GConflicting classifications of pathogenicity
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 386027	NM_054012.4(ASS1):c.63C>T (p.Leu21=)	ASS1	Single nucleotide variant (synonymous variant)	Citrullinemia +1 more	GLikely benign
Select item 254750	NM_054012.4(ASS1):c.99C>T (p.Ala33=)	ASS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1268567	NM_054012.4(ASS1):c.105+74G>C	ASS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177007	NM_054012.4(ASS1):c.105+115G>A	ASS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1254266	NM_054012.4(ASS1):c.105+246C>T	ASS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208135	NM_054012.4(ASS1):c.105+290C>T	ASS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231423	NM_054012.4(ASS1):c.106-284G>A	ASS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266994	NM_054012.4(ASS1):c.106-146C>A	ASS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 197098	NM_054012.4(ASS1):c.106-10T>G	ASS1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 1195920	NM_054012.4(ASS1):c.115G>C (p.Gly39Arg)	ASS1 (G39R)	Single nucleotide variant (missense variant)	Citrullinemia type I +2 more	GUncertain significance
Select item 365250	NM_054012.4(ASS1):c.174+4C>A	ASS1	Single nucleotide variant (intron variant)	Citrullinemia +3 more	GConflicting classifications of pathogenicity
Select item 506587	NM_054012.4(ASS1):c.174+10G>A	ASS1	Single nucleotide variant (intron variant)	Citrullinemia +2 more	GConflicting classifications of pathogenicity
Select item 514607	NM_054012.4(ASS1):c.174+14G>A	ASS1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 254743	NM_054012.4(ASS1):c.174+21A>G	ASS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1263451	NM_054012.4(ASS1):c.175-1233G>A	ASS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244205	NM_054012.4(ASS1):c.175-1129A>G	ASS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291037	NM_054012.4(ASS1):c.175-999T>C	ASS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232947	NM_054012.4(ASS1):c.175-226del	ASS1	Deletion (intron variant)	not provided	GBenign
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 1332900	NM_054012.4(ASS1):c.206T>C (p.Val69Ala)	ASS1 (V69A)	Single nucleotide variant (missense variant)	Citrullinemia +3 more	GConflicting classifications of pathogenicity
Select item 365251	NM_054012.4(ASS1):c.240C>T (p.Ser80=)	ASS1	Single nucleotide variant (synonymous variant)	Citrullinemia +2 more	GConflicting classifications of pathogenicity
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 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 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 571686	NM_054012.4(ASS1):c.322C>T (p.Arg108Trp)	ASS1 (R108W)	Single nucleotide variant (missense variant)	Citrullinemia +1 more	GConflicting classifications of pathogenicity
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 254744	NM_054012.4(ASS1):c.363+16A>G	ASS1	Single nucleotide variant (intron variant)	Citrullinemia +1 more	GBenign/Likely benign
Select item 683314	NM_054012.4(ASS1):c.363+195C>T	ASS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219494	NM_054012.4(ASS1):c.364-136C>T	ASS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 254745	NM_054012.4(ASS1):c.364-6T>C	ASS1	Single nucleotide variant (intron variant)	Citrullinemia type I +2 more	GBenign/Likely benign
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 515501	NM_054012.4(ASS1):c.408C>T (p.Ala136=)	ASS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 365254	NM_054012.4(ASS1):c.420+13T>G	ASS1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 254746	NM_054012.4(ASS1):c.421-28C>T	ASS1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 516782	NM_054012.4(ASS1):c.421-19C>T	ASS1	Single nucleotide variant (intron variant)	Citrullinemia +1 more	GBenign
Select item 668487	NM_054012.4(ASS1):c.489C>T (p.Tyr163=)	ASS1	Single nucleotide variant (synonymous variant)	Citrullinemia +1 more	GLikely benign
Select item 1177008	NM_054012.4(ASS1):c.495+84A>C	ASS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1298029	NM_054012.4(ASS1):c.496-50C>G	ASS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 995614	NM_054012.4(ASS1):c.496-36C>T	ASS1	Single nucleotide variant (intron variant)	Citrullinemia type I +1 more	GBenign
Select item 92369	NM_054012.4(ASS1):c.501C>T (p.His167=)	ASS1	Single nucleotide variant (synonymous variant)	Citrullinemia +3 more	GBenign
Select item 1312734	NM_054012.4(ASS1):c.515C>G (p.Pro172Arg)	ASS1 (P172R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 682528	NM_054012.4(ASS1):c.566+18C>G	ASS1	Single nucleotide variant (intron variant)	Citrullinemia +1 more	GLikely benign
Select item 385861	NM_054012.4(ASS1):c.566+20C>T	ASS1	Single nucleotide variant (intron variant)	Citrullinemia +1 more	GBenign/Likely benign
Select item 1192333	NM_054012.4(ASS1):c.566+88C>T	ASS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1189554	NM_054012.4(ASS1):c.566+172A>G	ASS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1326131	NM_054012.4(ASS1):c.567-22G>C	ASS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 203636	NM_054012.4(ASS1):c.584T>C (p.Leu195Pro)	ASS1 (L195P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3368030	NM_054012.4(ASS1):c.596A>G (p.Lys199Arg)	ASS1 (K199R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 254747	NM_054012.4(ASS1):c.597+8C>T	ASS1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 92370	NM_054012.4(ASS1):c.597+18A>G	ASS1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 802519	NM_054012.4(ASS1):c.597+81A>G	ASS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1193949	NM_054012.4(ASS1):c.597+167C>A	ASS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683317	NM_054012.4(ASS1):c.597+178G>A	ASS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1192147	NM_054012.4(ASS1):c.597+206C>T	ASS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679427	NM_054012.4(ASS1):c.622A>G (p.Thr208Ala)	ASS1 (T208A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
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 203630	NM_054012.4(ASS1):c.675C>T (p.Ile225=)	ASS1	Single nucleotide variant (synonymous variant)	Citrullinemia type I +3 more	GBenign
Select item 193550	NM_054012.4(ASS1):c.688+4T>C	ASS1	Single nucleotide variant (intron variant)	Citrullinemia type I +3 more	GBenign
Select item 382058	NM_054012.4(ASS1):c.688+10C>T	ASS1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1288594	NM_054012.4(ASS1):c.688+206G>A	ASS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 387469	NM_054012.4(ASS1):c.711C>T (p.Asn237=)	ASS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 385432	NM_054012.4(ASS1):c.765C>T (p.Asn255=)	ASS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 235312	NM_054012.4(ASS1):c.766G>A (p.Glu256Lys)	ASS1 (E256K)	Single nucleotide variant (missense variant)	Citrullinemia +3 more	GBenign/Likely benign
Select item 993522	NM_054012.4(ASS1):c.773+23G>T	ASS1	Single nucleotide variant (intron variant)	Citrullinemia type I +1 more	GBenign/Likely benign
Select item 382470	NM_054012.4(ASS1):c.773+45C>T	ASS1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1261532	NM_054012.4(ASS1):c.773+184G>T	ASS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 993523	NM_054012.4(ASS1):c.774-28G>T	ASS1	Single nucleotide variant (intron variant)	Citrullinemia type I +1 more	GBenign/Likely benign
Select item 392113	NM_054012.4(ASS1):c.786C>T (p.Gly262=)	ASS1	Single nucleotide variant (synonymous variant)	Citrullinemia type I +2 more	GConflicting classifications of pathogenicity
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 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 254749	NM_054012.4(ASS1):c.838+38A>G	ASS1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1181848	NM_054012.4(ASS1):c.838+66C>A	ASS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1328729	NM_054012.4(ASS1):c.838+92C>T	ASS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193875	NM_054012.4(ASS1):c.838+118C>T	ASS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1256772	NM_054012.4(ASS1):c.838+129C>G	ASS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180898	NM_054012.4(ASS1):c.838+144C>T	ASS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230623	NM_054012.4(ASS1):c.839-302G>A	ASS1	Single nucleotide variant (intron variant)	not provided	GBenign

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