6299[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 148231	GRCh38/hg38 16q11.2-12.1(chr16:46466829-52422170)x1	ABCC11, ABCC12 +210 more	Copy number loss	See cases	GPathogenic
Select item 148087	GRCh38/hg38 16q11.2-12.1(chr16:46466829-52355793)x3	LINC02128, LINC02133 +209 more	Copy number gain	See cases	GPathogenic
Select item 59468	GRCh38/hg38 16q11.2-12.1(chr16:46466829-51673196)x1	ABCC11, ABCC12 +202 more	Copy number loss	See cases	GPathogenic
Select item 59467	GRCh38/hg38 16q11.2-12.1(chr16:46466829-51939304)x1	ABCC11, ABCC12 +204 more	Copy number loss	See cases	GPathogenic
Select item 59486	GRCh38/hg38 16q11.2-12.1(chr16:46471520-52405956)x1	ABCC11, ABCC12 +209 more	Copy number loss	See cases	GPathogenic
Select item 59487	GRCh38/hg38 16q12.1-12.2(chr16:47250644-54121476)x1	ABCC11, ABCC12 +210 more	Copy number loss	See cases	GPathogenic
Select item 221522	GRCh38/hg38 16q12.1-12.2(chr16:48543083-53879916)x1	ADCY7, AKTIP +171 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 148654	GRCh38/hg38 16q12.1-12.2(chr16:49570553-53467065)x1	LOC110120583, LOC110120584 +136 more	Copy number loss	See cases	GPathogenic
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LINC02168, LINC02169 +675 more	Copy number gain	See cases	GPathogenic
Select item 59489	GRCh38/hg38 16q12.1(chr16:49740807-51876620)x1	LOC129390791, LOC129390792 +97 more	Copy number loss	See cases	GPathogenic
Select item 59490	GRCh38/hg38 16q12.1-12.2(chr16:50784329-55566715)x1	AKTIP, CAPNS2 +104 more	Copy number loss	See cases	GPathogenic
Select item 319575	NM_002968.3(SALL1):c.*1112dup	SALL1	Duplication (3 prime UTR variant)	Townes-Brocks syndrome 1	GLikely benign
Select item 319576	NM_002968.3(SALL1):c.*1033dup	SALL1	Duplication (3 prime UTR variant)	Townes-Brocks syndrome 1	GUncertain significance
Select item 319579	NM_002968.3(SALL1):c.*920CTT[2]	SALL1	Microsatellite (3 prime UTR variant)	Townes-Brocks syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 319583	NM_002968.3(SALL1):c.705_706del	SALL1	Deletion (3 prime UTR variant)	Townes-Brocks syndrome 1	GUncertain significance
Select item 319586	NM_002968.3(SALL1):c.*588del	SALL1	Deletion (3 prime UTR variant)	Townes-Brocks syndrome 1	GBenign
Select item 319587	NM_002968.3(SALL1):c.*563del	SALL1	Deletion (3 prime UTR variant)	Townes-Brocks syndrome 1	GUncertain significance
Select item 1249227	NM_002968.3(SALL1):c.*83GCCCC[3]	SALL1	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 319593	NM_002968.3(SALL1):c.*83GCCCC[1]	SALL1	Microsatellite (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 3052886	NM_002968.3(SALL1):c.*9G>A	SALL1	Single nucleotide variant (3 prime UTR variant)	SALL1-related condition	GLikely benign
Select item 2794936	NM_002968.3(SALL1):c.3966C>T (p.Val1322=)	SALL1	Single nucleotide variant (synonymous variant)	Townes syndrome	GLikely benign
Select item 808043	NM_002968.3(SALL1):c.3964G>A (p.Val1322Ile)	SALL1 (V1225I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2722026	NM_002968.3(SALL1):c.3963C>T (p.Ile1321=)	SALL1	Single nucleotide variant (synonymous variant)	Townes syndrome	GLikely benign
Select item 1280309	NM_002968.3(SALL1):c.3963C>G (p.Ile1321Met)	SALL1 (I1224M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 711990	NM_002968.3(SALL1):c.3957G>A (p.Lys1319=)	SALL1	Single nucleotide variant (synonymous variant)	Townes syndrome	GLikely benign
Select item 2254095	NM_002968.3(SALL1):c.3947A>G (p.Glu1316Gly)	SALL1 (E1316G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 319597	NM_002968.3(SALL1):c.3942C>T (p.Phe1314=)	SALL1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 426902	NM_002968.3(SALL1):c.3938G>A (p.Arg1313His)	SALL1 (R1313H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2059678	NM_002968.3(SALL1):c.3937C>T (p.Arg1313Cys)	SALL1 (R1313C +1 more)	Single nucleotide variant (missense variant)	Townes syndrome	GUncertain significance
Select item 2970483	NM_002968.3(SALL1):c.3928C>T (p.Arg1310Cys)	SALL1 (R1213C +1 more)	Single nucleotide variant (missense variant)	Townes syndrome	GUncertain significance
Select item 287591	NM_002968.3(SALL1):c.3915C>T (p.Asn1305=)	SALL1	Single nucleotide variant (synonymous variant)	Townes syndrome +2 more	GBenign
Select item 1415730	NM_002968.3(SALL1):c.3890T>G (p.Leu1297Arg)	SALL1 (L1297R +1 more)	Single nucleotide variant (missense variant)	SALL1-related condition +2 more	GUncertain significance
Select item 2558700	NM_002968.3(SALL1):c.3875C>A (p.Ala1292Asp)	SALL1 (A1195D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 218510	NM_002968.3(SALL1):c.3872A>G (p.Asn1291Ser)	SALL1 (N1291S +1 more)	Single nucleotide variant (missense variant)	Townes syndrome +3 more	GBenign/Likely benign
Select item 2526254	NM_002968.3(SALL1):c.3868C>T (p.Pro1290Ser)	SALL1 (P1193S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3050111	NM_002968.3(SALL1):c.3855C>G (p.Leu1285=)	SALL1	Single nucleotide variant (synonymous variant)	SALL1-related condition	GLikely benign
Select item 973876	NM_002968.3(SALL1):c.3847G>A (p.Glu1283Lys)	SALL1 (E1186K +1 more)	Single nucleotide variant (missense variant)	Townes-Brocks syndrome 1	GUncertain significance
Select item 2646522	NM_002968.3(SALL1):c.3845T>C (p.Leu1282Pro)	SALL1 (L1185P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1358915	NM_002968.3(SALL1):c.3843C>G (p.Asn1281Lys)	SALL1 (N1184K +1 more)	Single nucleotide variant (missense variant)	Townes syndrome	GUncertain significance
Select item 829915	NM_002968.3(SALL1):c.3836C>T (p.Thr1279Met)	SALL1 (T1182M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2485417	NM_002968.3(SALL1):c.3832C>G (p.Leu1278Val)	SALL1 (L1181V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 258871	NM_002968.3(SALL1):c.3823G>A (p.Val1275Ile)	SALL1 (V1275I +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 1301644	NM_002968.3(SALL1):c.3808G>A (p.Gly1270Arg)	SALL1 (G1173R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2753343	NM_002968.3(SALL1):c.3802G>A (p.Gly1268Ser)	SALL1 (G1171S +1 more)	Single nucleotide variant (missense variant)	Townes syndrome	GUncertain significance
Select item 1920292	NM_002968.3(SALL1):c.3801C>T (p.Leu1267=)	SALL1	Single nucleotide variant (synonymous variant)	Townes syndrome	GLikely benign
Select item 288122	NM_002968.3(SALL1):c.3794G>A (p.Gly1265Glu)	SALL1 (G1265E +1 more)	Single nucleotide variant (missense variant)	SALL1-related condition +4 more	GBenign/Likely benign
Select item 932004	NM_002968.3(SALL1):c.3787A>G (p.Ile1263Val)	SALL1 (I1166V +1 more)	Single nucleotide variant (missense variant)	Townes-Brocks syndrome 1	GUncertain significance
Select item 1306570	NM_002968.3(SALL1):c.3782C>G (p.Pro1261Arg)	SALL1 (P1164R +1 more)	Single nucleotide variant (missense variant)	SALL1-related condition +3 more	GUncertain significance
Select item 982425	NM_002968.3(SALL1):c.3782C>T (p.Pro1261Leu)	SALL1 (P1164L +1 more)	Single nucleotide variant (missense variant)	Townes-Brocks syndrome 1	GUncertain significance
Select item 2226202	NM_002968.3(SALL1):c.3781C>T (p.Pro1261Ser)	SALL1 (P1164S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 379407	NM_002968.3(SALL1):c.3771C>T (p.Asn1257=)	SALL1	Single nucleotide variant (synonymous variant)	Townes syndrome +2 more	GLikely benign
Select item 704400	NM_002968.3(SALL1):c.3759C>T (p.Ser1253=)	SALL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 501970	NM_002968.3(SALL1):c.3750C>T (p.Asn1250=)	SALL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2361889	NM_002968.3(SALL1):c.3737C>T (p.Ala1246Val)	SALL1 (A1149V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1265603	NM_002968.3(SALL1):c.3729C>T (p.Asn1243=)	SALL1	Single nucleotide variant (synonymous variant)	Townes syndrome +2 more	GBenign/Likely benign
Select item 1431472	NM_002968.3(SALL1):c.3728A>G (p.Asn1243Ser)	SALL1 (N1146S +1 more)	Single nucleotide variant (missense variant)	Townes syndrome +1 more	GUncertain significance
Select item 1150105	NM_002968.3(SALL1):c.3720G>A (p.Ala1240=)	SALL1	Single nucleotide variant (synonymous variant)	Townes syndrome	GLikely benign
Select item 2398773	NM_002968.3(SALL1):c.3696C>G (p.Ser1232Arg)	SALL1 (S1232R +1 more)	Single nucleotide variant (missense variant)	Townes syndrome +1 more	GUncertain significance
Select item 1703436	NM_002968.3(SALL1):c.3685G>A (p.Asp1229Asn)	SALL1 (D1132N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2061378	NM_002968.3(SALL1):c.3666G>A (p.Ala1222=)	SALL1	Single nucleotide variant (synonymous variant)	Townes syndrome	GLikely benign
Select item 1261438	NM_002968.3(SALL1):c.3665C>T (p.Ala1222Val)	SALL1 (A1125V +1 more)	Single nucleotide variant (missense variant)	Townes syndrome +1 more	GBenign/Likely benign
Select item 2552996	NM_002968.3(SALL1):c.3658G>A (p.Asp1220Asn)	SALL1 (D1123N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2840599	NM_002968.3(SALL1):c.3648G>A (p.Met1216Ile)	SALL1 (M1119I +1 more)	Single nucleotide variant (missense variant)	Townes syndrome	GUncertain significance
Select item 1309305	NM_002968.3(SALL1):c.3631G>T (p.Val1211Phe)	SALL1 (V1114F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1955454	NM_002968.3(SALL1):c.3630C>T (p.Pro1210=)	SALL1	Single nucleotide variant (synonymous variant)	Townes syndrome	GLikely benign
Select item 1307055	NM_002968.3(SALL1):c.3623G>A (p.Gly1208Asp)	SALL1 (G1111D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2581982	NM_002968.3(SALL1):c.3620G>T (p.Gly1207Val)	SALL1 (G1110V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965607	NM_002968.3(SALL1):c.3617T>C (p.Leu1206Pro)	SALL1 (L1109P +1 more)	Single nucleotide variant (missense variant)	Townes syndrome	GUncertain significance
Select item 1244483	NM_002968.3(SALL1):c.3603C>T (p.Gly1201=)	SALL1	Single nucleotide variant (synonymous variant)	SALL1-related condition +1 more	GBenign/Likely benign
Select item 450668	NM_002968.3(SALL1):c.3601G>A (p.Gly1201Ser)	SALL1 (G1201S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 574766	NM_002968.3(SALL1):c.3584G>A (p.Arg1195Gln)	SALL1 (R1195Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2037375	NM_002968.3(SALL1):c.3537A>G (p.Val1179=)	SALL1	Single nucleotide variant (synonymous variant)	Townes syndrome	GLikely benign
Select item 258869	NM_002968.3(SALL1):c.3535-44CT[6]	SALL1	Microsatellite (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1182700	NM_002968.3(SALL1):c.3535-152C>G	SALL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 667579	NM_002968.3(SALL1):c.3535-207G>A	SALL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272731	NM_002968.3(SALL1):c.3534+274G>C	SALL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224789	NM_002968.3(SALL1):c.3534+40C>G	SALL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2498662	NM_002968.3(SALL1):c.3534+25C>T	SALL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 391957	NM_002968.3(SALL1):c.3534+5C>T	SALL1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 258868	NM_002968.3(SALL1):c.3456C>T (p.His1152=)	SALL1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 2056598	NM_002968.3(SALL1):c.3437C>T (p.Ser1146Leu)	SALL1 (S1049L +1 more)	Single nucleotide variant (missense variant)	Townes syndrome	GUncertain significance
Select item 418466	NM_002968.3(SALL1):c.3414_3415del (p.Cys1139fs)	SALL1 (C1042fs +1 more)	Deletion (frameshift variant)	Townes syndrome +2 more	GPathogenic
Select item 1407873	NM_002968.3(SALL1):c.3409A>G (p.Asn1137Asp)	SALL1 (N1040D +1 more)	Single nucleotide variant (missense variant)	Townes syndrome	GUncertain significance
Select item 1333617	NM_002968.3(SALL1):c.3381del (p.Arg1128fs)	SALL1 (R1031fs +1 more)	Deletion (frameshift variant)	Townes-Brocks syndrome 1	GLikely pathogenic
Select item 1227746	NM_002968.3(SALL1):c.3380C>T (p.Pro1127Leu)	SALL1 (P1030L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2715566	NM_002968.3(SALL1):c.3373G>T (p.Ala1125Ser)	SALL1 (A1125S +1 more)	Single nucleotide variant (missense variant)	Townes syndrome	GUncertain significance
Select item 2051890	NM_002968.3(SALL1):c.3347C>T (p.Ser1116Phe)	SALL1 (S1019F +1 more)	Single nucleotide variant (missense variant)	Townes syndrome	GUncertain significance
Select item 2617840	NM_002968.3(SALL1):c.3338T>C (p.Leu1113Pro)	SALL1 (L1113P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1194386	NM_002968.3(SALL1):c.3330T>C (p.Ser1110=)	SALL1	Single nucleotide variant (synonymous variant)	Townes-Brocks syndrome 1 +1 more	GLikely benign
Select item 1362643	NM_002968.3(SALL1):c.3327G>A (p.Pro1109=)	SALL1	Single nucleotide variant (synonymous variant)	Townes syndrome	GLikely benign
Select item 424521	NM_002968.3(SALL1):c.3326C>T (p.Pro1109Leu)	SALL1 (P1109L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1699245	NM_002968.3(SALL1):c.3322G>T (p.Val1108Phe)	SALL1 (V1011F +1 more)	Single nucleotide variant (missense variant)	Townes-Brocks syndrome 1	GUncertain significance
Select item 1183453	NM_002968.3(SALL1):c.3322G>C (p.Val1108Leu)	SALL1 (V1011L +1 more)	Single nucleotide variant (missense variant)	Townes syndrome +3 more	GConflicting classifications of pathogenicity
Select item 689599	NM_002968.3(SALL1):c.3322G>A (p.Val1108Ile)	SALL1 (V1011I +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 1281498	NM_002968.3(SALL1):c.3310C>G (p.Pro1104Ala)	SALL1 (P1007A +1 more)	Single nucleotide variant (missense variant)	Townes syndrome +3 more	GBenign/Likely benign
Select item 287968	NM_002968.3(SALL1):c.3305A>G (p.Asp1102Gly)	SALL1 (D1102G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3068371	NM_002968.3(SALL1):c.3278T>G (p.Val1093Gly)	SALL1 (V1093G +1 more)	Single nucleotide variant (missense variant)	Townes-Brocks syndrome 1	GUncertain significance
Select item 593466	NM_002968.3(SALL1):c.3270C>T (p.Asn1090=)	SALL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2689906	NM_002968.3(SALL1):c.3245C>T (p.Ser1082Leu)	SALL1 (S1082L +1 more)	Single nucleotide variant (missense variant)	Townes-Brocks syndrome 1	GUncertain significance

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