ClinVar for MedGen (Select 1635275) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362839	NM_002968.3(SALL1):c.1741A>C (p.Ser581Arg)	SALL1 (S484R +1 more)	Single nucleotide variant (missense variant)	Townes-Brocks syndrome 1	GUncertain significance
Select item 3254898	NM_002968.3(SALL1):c.1606A>T (p.Lys536Ter)	SALL1 (K439* +1 more)	Single nucleotide variant (nonsense)	Townes-Brocks syndrome 1	GPathogenic
Select item 3236775	NM_002968.3(SALL1):c.724del (p.His242fs)	SALL1 (H145fs +1 more)	Deletion (frameshift variant)	Townes-Brocks syndrome 1	GLikely pathogenic
Select item 3236751	NM_002968.3(SALL1):c.252del (p.Phe85fs)	SALL1 (F85fs)	Deletion (5 prime UTR variant +1 more)	Townes-Brocks syndrome 1	GLikely pathogenic
Select item 3236579	NM_002968.3(SALL1):c.731_737delinsAGAA (p.Leu244_Leu246delinsGlnLys)	SALL1	Indel (inframe_indel)	Townes-Brocks syndrome 1	GUncertain significance
Select item 3235206	NM_002968.3(SALL1):c.3856C>T (p.Gln1286Ter)	SALL1 (Q1189* +1 more)	Single nucleotide variant (nonsense)	Townes-Brocks syndrome 1	GLikely pathogenic
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 3062088	NM_002968.3(SALL1):c.953del (p.Pro318fs)	SALL1 (P221fs +1 more)	Deletion (frameshift variant)	Townes-Brocks syndrome 1	GPathogenic
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
Select item 2687773	NM_002968.3(SALL1):c.1148del (p.Leu383fs)	SALL1 (L286fs +1 more)	Deletion (frameshift variant)	Townes-Brocks syndrome 1	GPathogenic
Select item 2681784	NM_002968.3(SALL1):c.2283_2284del (p.Leu762fs)	SALL1 (L665fs +1 more)	Deletion (frameshift variant)	Townes-Brocks syndrome 1	GPathogenic
Select item 2664181	NM_002968.3(SALL1):c.1705_1707dup (p.Phe569_Ile570insPhe)	SALL1	Duplication (inframe_insertion)	Townes-Brocks syndrome 1	GUncertain significance
Select item 2442250	NM_002968.3(SALL1):c.2605C>G (p.Gln869Glu)	SALL1 (Q772E +1 more)	Single nucleotide variant (missense variant)	Townes-Brocks syndrome 1	GUncertain significance
Select item 2435646	NM_002968.3(SALL1):c.104G>T (p.Arg35Leu)	SALL1 (R35L)	Single nucleotide variant (5 prime UTR variant +1 more)	Townes-Brocks syndrome 1	GUncertain significance
Select item 2077958	NM_002968.3(SALL1):c.389C>T (p.Pro130Leu)	SALL1 (P130L +1 more)	Single nucleotide variant (missense variant)	Townes-Brocks syndrome 1 +1 more	GLikely benign
Select item 2072565	NM_002968.3(SALL1):c.2269C>T (p.Arg757Cys)	SALL1 (R660C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1878538	NM_002968.3(SALL1):c.833C>T (p.Ser278Phe)	SALL1 (S181F +1 more)	Single nucleotide variant (missense variant)	Townes-Brocks syndrome 1	GUncertain significance
Select item 1705680	NM_002968.3(SALL1):c.1228G>T (p.Gly410Ter)	SALL1 (G313* +1 more)	Single nucleotide variant (nonsense)	Townes-Brocks syndrome 1	GPathogenic
Select item 1700011	NM_002968.3(SALL1):c.2129del (p.Ile710fs)	SALL1 (I613fs +1 more)	Deletion (frameshift variant)	Townes-Brocks syndrome 1	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 1698895	NM_002968.3(SALL1):c.1778G>A (p.Ser593Asn)	SALL1 (S496N +1 more)	Single nucleotide variant (missense variant)	Townes-Brocks syndrome 1	GUncertain significance
Select item 1693559	NM_002968.3(SALL1):c.709C>T (p.Gln237Ter)	SALL1 (Q140* +1 more)	Single nucleotide variant (nonsense)	Townes-Brocks syndrome 1	GPathogenic
Select item 1684274	NM_002968.3(SALL1):c.721A>G (p.Ile241Val)	SALL1 (I144V +1 more)	Single nucleotide variant (missense variant)	Townes-Brocks syndrome 1	GUncertain significance
Select item 1683599	NM_002968.3(SALL1):c.494C>T (p.Ser165Phe)	SALL1 (S165F +1 more)	Single nucleotide variant (missense variant)	Townes-Brocks syndrome 1 +1 more	GUncertain significance
Select item 1679359	NM_002968.3(SALL1):c.1363_1369delinsTGAAACA (p.Ala455_Val457delinsTer)	SALL1	Indel (nonsense)	Townes-Brocks syndrome 1	GPathogenic
Select item 1679304	NM_002968.3(SALL1):c.601C>T (p.Gln201Ter)	SALL1 (Q104* +1 more)	Single nucleotide variant (nonsense)	Townes-Brocks syndrome 1	GPathogenic/Likely pathogenic
Select item 1679300	NM_002968.3(SALL1):c.1775A>G (p.Lys592Arg)	SALL1 (K495R +1 more)	Single nucleotide variant (missense variant)	Townes-Brocks syndrome 1	GUncertain significance
Select item 1628766	NM_002968.3(SALL1):c.1953C>T (p.Pro651=)	SALL1	Single nucleotide variant (synonymous variant)	Townes syndrome +1 more	GLikely benign
Select item 1626340	NM_002968.3(SALL1):c.618G>A (p.Ala206=)	SALL1	Single nucleotide variant (synonymous variant)	Townes-Brocks syndrome 1 +1 more	GLikely benign
Select item 1582633	NM_002968.3(SALL1):c.2565T>G (p.Pro855=)	SALL1	Single nucleotide variant (synonymous variant)	Townes-Brocks syndrome 1 +1 more	GLikely benign
Select item 1536649	NM_002968.3(SALL1):c.3231C>T (p.Pro1077=)	SALL1	Single nucleotide variant (synonymous variant)	Townes syndrome +1 more	GLikely benign
Select item 1514998	NM_002968.3(SALL1):c.2852C>T (p.Ala951Val)	SALL1 (A951V +1 more)	Single nucleotide variant (missense variant)	Townes syndrome +1 more	GUncertain significance
Select item 1462614	NM_002968.3(SALL1):c.1227C>T (p.Ile409=)	SALL1	Single nucleotide variant (synonymous variant)	Townes-Brocks syndrome 1 +1 more	GLikely benign
Select item 1431472	NM_002968.3(SALL1):c.3728A>G (p.Asn1243Ser)	SALL1 (N1146S +1 more)	Single nucleotide variant (missense variant)	Townes-Brocks syndrome 1 +2 more	GUncertain significance
Select item 1422600	NM_002968.3(SALL1):c.2957T>C (p.Leu986Ser)	SALL1 (L889S +1 more)	Single nucleotide variant (missense variant)	SALL1-related disorder +3 more	GUncertain significance
Select item 1415731	NM_002968.3(SALL1):c.2947G>C (p.Glu983Gln)	SALL1 (E886Q +1 more)	Single nucleotide variant (missense variant)	SALL1-related disorder +2 more	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 1328823	NM_002968.3(SALL1):c.2938A>T (p.Ile980Phe)	SALL1 (I883F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 1307259	NM_002968.3(SALL1):c.1016C>T (p.Pro339Leu)	SALL1 (P242L +1 more)	Single nucleotide variant (missense variant)	Townes-Brocks syndrome 1 +2 more	GUncertain significance
Select item 1306570	NM_002968.3(SALL1):c.3782C>G (p.Pro1261Arg)	SALL1 (P1164R +1 more)	Single nucleotide variant (missense variant)	Townes-Brocks syndrome 1 +2 more	GUncertain significance
Select item 1282736	NM_002968.3(SALL1):c.219C>T (p.Ile73=)	SALL1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1281498	NM_002968.3(SALL1):c.3310C>G (p.Pro1104Ala)	SALL1 (P1007A +1 more)	Single nucleotide variant (missense variant)	Townes-Brocks syndrome 1 +2 more	GBenign/Likely benign
Select item 1270493	NM_002968.3(SALL1):c.1565C>T (p.Thr522Met)	SALL1 (T425M +1 more)	Single nucleotide variant (missense variant)	Townes syndrome +2 more	GBenign/Likely benign
Select item 1266977	NM_002968.3(SALL1):c.2331C>T (p.Asn777=)	SALL1	Single nucleotide variant (synonymous variant)	Townes-Brocks syndrome 1 +2 more	GBenign/Likely benign
Select item 1265603	NM_002968.3(SALL1):c.3729C>T (p.Asn1243=)	SALL1	Single nucleotide variant (synonymous variant)	Townes-Brocks syndrome 1 +2 more	GBenign/Likely benign
Select item 1223813	NM_002968.3(SALL1):c.1207C>T (p.Pro403Ser)	SALL1 (P306S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1214791	NM_002968.3(SALL1):c.2259C>T (p.Tyr753=)	SALL1	Single nucleotide variant (synonymous variant)	Townes-Brocks syndrome 1 +1 more	GLikely benign
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 1184321	NM_002968.3(SALL1):c.424G>C (p.Gly142Arg)	SALL1 (G142R +1 more)	Single nucleotide variant (missense variant)	Townes-Brocks syndrome 1	GUncertain significance
Select item 1177412	NM_002968.3(SALL1):c.1759C>A (p.Pro587Thr)	SALL1 (P490T +1 more)	Single nucleotide variant (missense variant)	Townes-Brocks syndrome 1	GUncertain significance
Select item 1048816	NM_002968.3(SALL1):c.448AGC[16] (p.Ser154_Ser159dup)	SALL1	Microsatellite (inframe_insertion)	not provided +1 more	GUncertain significance
Select item 1048611	NM_002968.3(SALL1):c.269dup (p.Pro91fs)	SALL1 (P91fs)	Duplication (5 prime UTR variant +1 more)	Townes-Brocks syndrome 1	GLikely pathogenic
Select item 1006535	NM_002968.3(SALL1):c.3088A>G (p.Ile1030Val)	SALL1 (I1030V +1 more)	Single nucleotide variant (missense variant)	Townes syndrome +1 more	GUncertain significance
Select item 988234	NM_002968.3(SALL1):c.2846A>G (p.Gln949Arg)	SALL1 (Q852R +1 more)	Single nucleotide variant (missense variant)	Townes-Brocks syndrome 1	GUncertain significance
Select item 983477	NM_002968.3(SALL1):c.1365_1366insGCAG (p.Lys456fs)	SALL1 (K359fs +1 more)	Insertion (frameshift variant)	Townes-Brocks syndrome 1	GPathogenic
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 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 973255	NM_002968.3(SALL1):c.1873G>T (p.Glu625Ter)	SALL1 (E528* +1 more)	Single nucleotide variant (nonsense)	Townes-Brocks syndrome 1	GPathogenic
Select item 936315	NM_002968.3(SALL1):c.871C>T (p.Gln291Ter)	SALL1 (Q194* +1 more)	Single nucleotide variant (nonsense)	Townes-Brocks syndrome 1 +1 more	GPathogenic/Likely pathogenic
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 862986	NM_002968.3(SALL1):c.412G>A (p.Gly138Ser)	SALL1 (G41S +1 more)	Single nucleotide variant (missense variant)	Townes syndrome +2 more	GConflicting classifications of pathogenicity
Select item 830013	NM_002968.3(SALL1):c.2287dup (p.Arg763fs)	SALL1 (R666fs +1 more)	Duplication (frameshift variant)	Townes-Brocks syndrome 1	GLikely pathogenic
Select item 829987	NM_002968.3(SALL1):c.2050C>T (p.Gln684Ter)	SALL1 (Q587* +1 more)	Single nucleotide variant (nonsense)	Townes-Brocks syndrome 1	GConflicting classifications of pathogenicity
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 829881	NM_002968.3(SALL1):c.2801del (p.Ser934fs)	SALL1 (S837fs +1 more)	Deletion (frameshift variant)	Townes-Brocks syndrome 1	GLikely pathogenic
Select item 807481	NM_002968.3(SALL1):c.2686_2689dup (p.Val897fs)	SALL1 (V897fs +1 more)	Duplication (frameshift variant)	Townes-Brocks syndrome 1	GPathogenic
Select item 771794	NM_002968.3(SALL1):c.703G>A (p.Ala235Thr)	SALL1 (A235T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 702728	NM_002968.3(SALL1):c.3084A>G (p.Pro1028=)	SALL1	Single nucleotide variant (synonymous variant)	Townes-Brocks syndrome 1 +1 more	GLikely benign
Select item 702302	NM_002968.3(SALL1):c.448AGC[13] (p.Ser157_Ser159dup)	SALL1	Microsatellite (inframe_insertion)	not provided +2 more	GBenign/Likely benign
Select item 693986	NM_002968.3(SALL1):c.1514A>G (p.His505Arg)	SALL1 (H408R +1 more)	Single nucleotide variant (missense variant)	Townes-Brocks syndrome 1	GUncertain significance
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 654753	NM_002968.3(SALL1):c.548C>A (p.Thr183Lys)	SALL1 (T183K +1 more)	Single nucleotide variant (missense variant)	Townes syndrome +1 more	GConflicting classifications of pathogenicity
Select item 633693	NM_002968.3(SALL1):c.602A>G (p.Gln201Arg)	SALL1 (Q201R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 528883	NM_002968.3(SALL1):c.264C>T (p.Ser88=)	SALL1	Single nucleotide variant (5 prime UTR variant +1 more)	Townes syndrome +2 more	GBenign/Likely benign
Select item 523050	NM_002968.3(SALL1):c.477_478insAGCAGCGGC (p.Ser159_Gly160insSerSerGly)	SALL1	Insertion (inframe_insertion)	not provided +1 more	GUncertain significance
Select item 516605	NM_002968.3(SALL1):c.387C>T (p.Ala129=)	SALL1	Single nucleotide variant (synonymous variant)	Townes syndrome +3 more	GLikely benign
Select item 499461	NM_002968.3(SALL1):c.361A>G (p.Arg121Gly)	SALL1 (R121G +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 499155	NM_002968.3(SALL1):c.2278C>T (p.Pro760Ser)	SALL1 (P760S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 498506	NM_002968.3(SALL1):c.3180C>A (p.Leu1060=)	SALL1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 459259	NM_002968.3(SALL1):c.3199C>T (p.Leu1067Phe)	SALL1 (L1067F +1 more)	Single nucleotide variant (missense variant)	Townes syndrome +1 more	GConflicting classifications of pathogenicity
Select item 426114	NM_002968.3(SALL1):c.1108_1109del (p.Val370fs)	SALL1 (V273fs +1 more)	Deletion (frameshift variant)	Townes-Brocks syndrome 1	GPathogenic
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 379407	NM_002968.3(SALL1):c.3771C>T (p.Asn1257=)	SALL1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 319622	NM_002968.3(SALL1):c.43G>A (p.Asp15Asn)	SALL1 (D15N)	Single nucleotide variant (missense variant)	Townes-Brocks syndrome 1	GUncertain significance
Select item 319617	NM_002968.3(SALL1):c.351C>T (p.Asn117=)	SALL1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 319615	NM_002968.3(SALL1):c.448AGC[12] (p.Ser158_Ser159dup)	SALL1	Microsatellite (inframe_insertion)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 319614	NM_002968.3(SALL1):c.537C>T (p.Leu179=)	SALL1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 319604	NM_002968.3(SALL1):c.3222G>A (p.Ala1074=)	SALL1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 319597	NM_002968.3(SALL1):c.3942C>T (p.Phe1314=)	SALL1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 319593	NM_002968.3(SALL1):c.*83GCCCC[1]	SALL1	Microsatellite (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 319587	NM_002968.3(SALL1):c.*563del	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 319583	NM_002968.3(SALL1):c.705_706del	SALL1	Deletion (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 319576	NM_002968.3(SALL1):c.*1033dup	SALL1	Duplication (3 prime UTR variant)	Townes-Brocks syndrome 1	GUncertain significance
Select item 319575	NM_002968.3(SALL1):c.*1112dup	SALL1	Duplication (3 prime UTR variant)	Townes-Brocks syndrome 1	GLikely benign
Select item 290062	NM_002968.3(SALL1):c.484G>A (p.Gly162Ser)	SALL1 (G162S +1 more)	Single nucleotide variant (missense variant)	Townes syndrome +2 more	GConflicting classifications of pathogenicity
Select item 289298	NM_002968.3(SALL1):c.1329T>A (p.Asp443Glu)	SALL1 (D443E +1 more)	Single nucleotide variant (missense variant)	Townes-Brocks syndrome 1 +1 more	GUncertain significance
Select item 288122	NM_002968.3(SALL1):c.3794G>A (p.Gly1265Glu)	SALL1 (G1265E +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign

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