ClinVar for MedGen (Select 816301) - ClinVar

Links from MedGen

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2735059	NM_001673.5(ASNS):c.1219C>T (p.Arg407Ter)	ASNS, CZ1P-ASNS (R324* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2577189	NM_001673.5(ASNS):c.1209_1211delinsGCA (p.Arg404His)	ASNS, CZ1P-ASNS (R321H +2 more)	Indel (non-coding transcript variant +1 more)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome	GPathogenic
Select item 2572006	NM_001673.5(ASNS):c.353A>G (p.Asp118Gly)	ASNS, CZ1P-ASNS (D118G +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome	GUncertain significance
Select item 2501284	NM_001673.5(ASNS):c.1174_1175dup (p.Leu393fs)	ASNS, CZ1P-ASNS (L310fs +2 more)	Microsatellite (frameshift variant +1 more)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome	GLikely pathogenic
Select item 2501283	NM_001673.5(ASNS):c.1283del (p.Tyr428fs)	ASNS, CZ1P-ASNS (Y345fs +2 more)	Deletion (frameshift variant +1 more)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome	GLikely pathogenic
Select item 2500858	NM_001673.5(ASNS):c.1137+200_1137+205del	ASNS, CZ1P-ASNS	Deletion (intron variant)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome	GLikely pathogenic
Select item 2499051	NM_001673.5(ASNS):c.673+3A>G	ASNS, CZ1P-ASNS	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 2435388	NM_001673.5(ASNS):c.1237_1238+5del	ASNS, CZ1P-ASNS	Deletion (splice donor variant)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome	GLikely pathogenic
Select item 2145064	NM_001673.5(ASNS):c.164C>T (p.Pro55Leu)	ASNS, CZ1P-ASNS (P55L +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome +1 more	GUncertain significance
Select item 1878317	NM_001673.5(ASNS):c.1578C>A (p.Tyr526Ter)	ASNS, CZ1P-ASNS (Y505* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome	GLikely pathogenic
Select item 1709129	NM_001673.5(ASNS):c.213G>A (p.Trp71Ter)	ASNS, CZ1P-ASNS (W50* +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome	GPathogenic
Select item 1706454	NM_001673.5(ASNS):c.776-5T>G	ASNS, CZ1P-ASNS	Single nucleotide variant (intron variant)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome	GPathogenic
Select item 1679838	NM_001673.5(ASNS):c.484A>G (p.Lys162Glu)	ASNS, CZ1P-ASNS (K141E +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome	GUncertain significance
Select item 1678035	NM_001673.5(ASNS):c.1235A>G (p.His412Arg)	ASNS, CZ1P-ASNS (H329R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome +1 more	GUncertain significance
Select item 1534267	NM_001673.5(ASNS):c.1138-8T>C	ASNS, CZ1P-ASNS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1492904	NM_001673.5(ASNS):c.1018C>T (p.Arg340Cys)	ASNS, CZ1P-ASNS (R319C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome +1 more	GLikely pathogenic
Select item 1469079	NM_001673.5(ASNS):c.1210C>T (p.Arg404Cys)	ASNS, CZ1P-ASNS (R383C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1441113	NM_001673.5(ASNS):c.540del (p.Leu181fs)	ASNS, CZ1P-ASNS (L160fs +2 more)	Deletion (non-coding transcript variant +1 more)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1411238	NM_001673.5(ASNS):c.706del (p.Arg236fs)	ASNS, CZ1P-ASNS (R236fs +2 more)	Deletion (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1352468	NM_001673.5(ASNS):c.750_753del (p.Asp250fs)	ASNS, CZ1P-ASNS (D167fs +2 more)	Microsatellite (non-coding transcript variant +1 more)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1333556	NM_001673.5(ASNS):c.1049A>G (p.Lys350Arg)	ASNS, CZ1P-ASNS (K267R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome	GUncertain significance
Select item 1333247	NM_001673.5(ASNS):c.7G>A (p.Gly3Ser)	ASNS, CZ1P-ASNS (G3S)	Single nucleotide variant (non-coding transcript variant +2 more)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome	GUncertain significance
Select item 1332875	NM_001673.5(ASNS):c.224A>G (p.Asn75Ser)	ASNS, CZ1P-ASNS (N54S +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1332874	NM_001673.5(ASNS):c.413A>C (p.Asp138Ala)	ASNS, CZ1P-ASNS (D117A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome	GLikely pathogenic
Select item 1323942	NM_001673.5(ASNS):c.1059del (p.Lys354fs)	ASNS, CZ1P-ASNS (K271fs +2 more)	Deletion (non-coding transcript variant +1 more)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1252063	NM_001673.5(ASNS):c.1211G>A (p.Arg404His)	ASNS, CZ1P-ASNS (R321H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome +1 more	GLikely pathogenic
Select item 1223825	NM_001673.5(ASNS):c.868A>G (p.Met290Val)	ASNS, CZ1P-ASNS (M207V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1219528	NM_001673.5(ASNS):c.622C>T (p.Arg208Trp)	ASNS, CZ1P-ASNS (R125W +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1216009	NM_001673.5(ASNS):c.91G>T (p.Ala31Ser)	ASNS, CZ1P-ASNS (A10S +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1214177	NM_001673.5(ASNS):c.1628A>G (p.Asn543Ser)	ASNS, CZ1P-ASNS (N460S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1213039	NM_001673.5(ASNS):c.1159G>A (p.Glu387Lys)	ASNS, CZ1P-ASNS (E304K +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1211854	NM_001673.5(ASNS):c.1593C>A (p.Asp531Glu)	ASNS, CZ1P-ASNS (D448E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1195918	NM_001673.5(ASNS):c.1058G>A (p.Arg353Gln)	ASNS, CZ1P-ASNS (R270Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 1194038	NM_001673.5(ASNS):c.1175G>A (p.Arg392Lys)	ASNS, CZ1P-ASNS (R309K +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1191120	NM_001673.5(ASNS):c.1304A>C (p.Glu435Ala)	ASNS, CZ1P-ASNS (E352A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1185230	NM_001673.5(ASNS):c.488-23A>G	CZ1P-ASNS, ASNS	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185229	NM_001673.5(ASNS):c.674-83T>C	ASNS, CZ1P-ASNS	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185215	NM_001673.5(ASNS):c.1238+142G>C	CZ1P-ASNS, ASNS	Single nucleotide variant (intron variant)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome +1 more	GBenign/Likely benign
Select item 1185214	NM_001673.5(ASNS):c.1477-32G>A	ASNS, CZ1P-ASNS	Single nucleotide variant (intron variant)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome +1 more	GBenign
Select item 1169096	NM_001673.5(ASNS):c.1209C>G (p.Leu403=)	ASNS, CZ1P-ASNS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1166409	NM_001673.5(ASNS):c.288G>A (p.Val96=)	ASNS, CZ1P-ASNS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1165885	NM_001673.5(ASNS):c.776-13C>T	CZ1P-ASNS, ASNS	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1091422	NM_001673.5(ASNS):c.1674T>C (p.Ala558=)	ASNS, CZ1P-ASNS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1066640	NM_001673.5(ASNS):c.1A>G (p.Met1Val)	ASNS, CZ1P-ASNS (M1V)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely pathogenic
Select item 1031113	NM_001673.5(ASNS):c.1112C>T (p.Thr371Met)	ASNS, CZ1P-ASNS (T288M +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome +1 more	GUncertain significance
Select item 1029362	NM_001673.5(ASNS):c.224A>T (p.Asn75Ile)	ASNS, CZ1P-ASNS (N54I +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome	GUncertain significance
Select item 993020	NM_001673.5(ASNS):c.1137+1G>A	ASNS, CZ1P-ASNS	Single nucleotide variant (splice donor variant)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome	GPathogenic
Select item 991204	NM_001673.5(ASNS):c.613C>T (p.His205Tyr)	ASNS, CZ1P-ASNS (H122Y +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome	GUncertain significance
Select item 991203	NM_001673.5(ASNS):c.1570C>A (p.Arg524Ser)	ASNS, CZ1P-ASNS (R441S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome	GUncertain significance
Select item 984946	NM_001673.5(ASNS):c.666_667del (p.Phe223fs)	ASNS, CZ1P-ASNS (F140fs +2 more)	Microsatellite (non-coding transcript variant +1 more)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome +1 more	GPathogenic/Likely pathogenic
Select item 977917	NM_001673.5(ASNS):c.437T>C (p.Phe146Ser)	ASNS, CZ1P-ASNS (F125S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GUncertain significance
Select item 977852	NM_001673.5(ASNS):c.119A>G (p.Tyr40Cys)	ASNS, CZ1P-ASNS (Y19C +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome	GLikely pathogenic
Select item 951638	NM_001673.5(ASNS):c.277C>T (p.Gln93Ter)	ASNS, CZ1P-ASNS (Q10* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 946671	NM_001673.5(ASNS):c.1165G>T (p.Glu389Ter)	ASNS, CZ1P-ASNS (E306* +2 more)	Single nucleotide variant (nonsense +1 more)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome +1 more	GPathogenic/Likely pathogenic
Select item 934400	NM_001673.5(ASNS):c.1031G>T (p.Gly344Val)	ASNS, CZ1P-ASNS (G261V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 870425	NM_001673.5(ASNS):c.1476+1G>A	ASNS, CZ1P-ASNS	Single nucleotide variant (splice donor variant)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome	GPathogenic
Select item 842544	NM_001673.5(ASNS):c.1320+1G>C	ASNS, CZ1P-ASNS	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +2 more	GLikely pathogenic
Select item 836319	NM_001673.5(ASNS):c.1393C>T (p.Arg465Ter)	ASNS, CZ1P-ASNS (R382* +2 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 810138	NM_001673.5(ASNS):c.1555C>T (p.Arg519Cys)	ASNS, CZ1P-ASNS (R436C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 802340	NM_001673.5(ASNS):c.883G>A (p.Asp295Asn)	ASNS, CZ1P-ASNS (D274N +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 802339	NM_001673.5(ASNS):c.1213G>A (p.Ala405Thr)	ASNS, CZ1P-ASNS (A322T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome +1 more	GConflicting classifications of pathogenicity
Select item 800997	NM_001673.5(ASNS):c.1193A>G (p.Tyr398Cys)	ASNS, CZ1P-ASNS (Y377C +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome +1 more	GPathogenic/Likely pathogenic
Select item 800982	NM_001673.5(ASNS):c.1160A>G (p.Glu387Gly)	ASNS, CZ1P-ASNS (E304G +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome	GLikely pathogenic
Select item 800534	NM_001673.5(ASNS):c.1649G>A (p.Arg550His)	ASNS, CZ1P-ASNS (R467H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome +2 more	GPathogenic/Likely pathogenic
Select item 797303	NM_001673.5(ASNS):c.594C>T (p.Ser198=)	ASNS, CZ1P-ASNS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 797299	NM_001673.5(ASNS):c.1626C>T (p.Ile542=)	ASNS, CZ1P-ASNS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 793802	NM_001673.5(ASNS):c.1164G>A (p.Glu388=)	ASNS, CZ1P-ASNS	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 771726	NM_001673.5(ASNS):c.18G>A (p.Ala6=)	ASNS, CZ1P-ASNS	Single nucleotide variant (synonymous variant +2 more)	ASNS-related disorder +1 more	GBenign
Select item 763369	NM_001673.5(ASNS):c.513G>A (p.Ala171=)	ASNS, CZ1P-ASNS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 745738	NM_001673.5(ASNS):c.153G>A (p.Ala51=)	ASNS, CZ1P-ASNS	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 730793	NM_001673.5(ASNS):c.250-10G>A	ASNS, CZ1P-ASNS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 729858	NM_001673.5(ASNS):c.1364C>T (p.Ser455Phe)	ASNS, CZ1P-ASNS (S434F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 728953	NM_001673.5(ASNS):c.1587G>A (p.Arg529=)	ASNS, CZ1P-ASNS	Single nucleotide variant (synonymous variant +1 more)	ASNS-related disorder +2 more	GBenign/Likely benign
Select item 707980	NM_001673.5(ASNS):c.591A>C (p.Ala197=)	ASNS, CZ1P-ASNS	Single nucleotide variant (synonymous variant +1 more)	ASNS-related disorder +1 more	GBenign/Likely benign
Select item 667997	NM_001673.5(ASNS):c.629T>A (p.Val210Glu)	CZ1P-ASNS, ASNS (V127E +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome +1 more	GBenign
Select item 635973	NM_001673.5(ASNS):c.1138G>T (p.Ala380Ser)	ASNS, CZ1P-ASNS (A380S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 635971	NM_001673.5(ASNS):c.1097G>A (p.Gly366Glu)	ASNS, CZ1P-ASNS (G366E +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome	GPathogenic
Select item 635970	NM_001673.5(ASNS):c.1019G>A (p.Arg340His)	ASNS, CZ1P-ASNS (R340H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome +1 more	GConflicting classifications of pathogenicity
Select item 635034	NM_001673.5(ASNS):c.203C>T (p.Pro68Leu)	ASNS, CZ1P-ASNS (P68L +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome +1 more	GUncertain significance
Select item 634631	NM_001673.5(ASNS):c.29G>A (p.Ser10Asn)	ASNS, CZ1P-ASNS (S10N)	Single nucleotide variant (missense variant +2 more)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome	GUncertain significance
Select item 623341	NM_001673.5(ASNS):c.569T>G (p.Leu190Ter)	ASNS, CZ1P-ASNS (L190* +2 more)	Single nucleotide variant (nonsense +1 more)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome	GPathogenic
Select item 545474	NM_001673.5(ASNS):c.601del (p.Met201fs)	ASNS, CZ1P-ASNS (M180fs +2 more)	Deletion (non-coding transcript variant +1 more)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome	GPathogenic
Select item 545473	NM_001673.5(ASNS):c.1165G>C (p.Glu389Gln)	ASNS, CZ1P-ASNS (E389Q +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome	GLikely pathogenic
Select item 522653	NM_001673.5(ASNS):c.202C>A (p.Pro68Thr)	ASNS, CZ1P-ASNS (P47T +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome	GLikely pathogenic
Select item 453130	NM_001673.5(ASNS):c.1616C>T (p.Pro539Leu)	ASNS, CZ1P-ASNS (P539L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 445433	NM_001673.5(ASNS):c.1465G>A (p.Val489Ile)	ASNS, CZ1P-ASNS (V489I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 434402	NM_001673.5(ASNS):c.97C>T (p.Arg33Cys)	ASNS, CZ1P-ASNS (R33C +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified +1 more	GPathogenic/Likely pathogenic
Select item 434401	NM_001673.5(ASNS):c.1030+1G>A	ASNS, CZ1P-ASNS	Single nucleotide variant (splice donor variant)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome	GLikely pathogenic
Select item 424734	NM_133436.3(ASNS):c.[1439C>T];[1648C>T]			Abnormality of neuronal migration	GPathogenic
Select item 383733	NM_001673.5(ASNS):c.146G>A (p.Arg49Gln)	ASNS, CZ1P-ASNS (R49Q +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Neurodevelopmental delay +2 more	GPathogenic/Likely pathogenic
Select item 377228	NM_001673.5(ASNS):c.1192dup (p.Tyr398fs)	ASNS, CZ1P-ASNS (Y315fs +2 more)	Duplication (non-coding transcript variant +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 377002	NM_001673.5(ASNS):c.728T>C (p.Val243Ala)	ASNS, CZ1P-ASNS (V243A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 242550	NM_001673.5(ASNS):c.1439C>T (p.Ser480Phe)	ASNS, CZ1P-ASNS (S480F +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome +1 more	GPathogenic/Likely pathogenic
Select item 210339	NM_001673.5(ASNS):c.478del (p.Glu160fs)	ASNS, CZ1P-ASNS (E139fs +2 more)	Deletion (frameshift variant +1 more)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome +1 more	GPathogenic
Select item 210338	NM_001673.5(ASNS):c.413A>T (p.Asp138Val)	ASNS, CZ1P-ASNS (D138V +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome +1 more	GConflicting classifications of pathogenicity
Select item 91842	NM_001673.5(ASNS):c.17C>A (p.Ala6Glu)	CZ1P-ASNS, ASNS (A6E)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic/Likely pathogenic
Select item 91841	NM_001673.5(ASNS):c.1648C>T (p.Arg550Cys)	CZ1P-ASNS, ASNS (R550C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 91840	NM_001673.5(ASNS):c.1084T>G (p.Phe362Val)	ASNS, CZ1P-ASNS (F362V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic

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Items: 98