ClinVar for Gene (Select 6299) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3058240	NM_002968.3(SALL1):c.2397C>T (p.Pro799=)	SALL1	Single nucleotide variant (synonymous variant)	SALL1-related condition	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 3052266	NM_002968.3(SALL1):c.2121G>A (p.Glu707=)	SALL1	Single nucleotide variant (synonymous variant)	SALL1-related condition	GLikely benign
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 3048788	NM_002968.3(SALL1):c.583G>A (p.Val195Ile)	SALL1 (V195I +1 more)	Single nucleotide variant (missense variant)	SALL1-related condition	GLikely benign
Select item 3048586	NM_002968.3(SALL1):c.1992G>A (p.Pro664=)	SALL1	Single nucleotide variant (synonymous variant)	SALL1-related condition	GLikely benign
Select item 3047672	NM_002968.3(SALL1):c.1143C>T (p.Ser381=)	SALL1	Single nucleotide variant (synonymous variant)	SALL1-related condition	GLikely benign
Select item 3047264	NM_002968.3(SALL1):c.639A>G (p.Glu213=)	SALL1	Single nucleotide variant (synonymous variant)	SALL1-related condition	GLikely benign
Select item 3046433	NM_002968.3(SALL1):c.478GGC[6] (p.Gly163_Ser164insGlyGly)	SALL1	Microsatellite (inframe insertion +1 more)	SALL1-related condition	GLikely benign
Select item 3042342	NM_002968.3(SALL1):c.270T>A (p.Pro90=)	SALL1	Single nucleotide variant (5 prime UTR variant +1 more)	SALL1-related condition	GLikely benign
Select item 3042092	NM_002968.3(SALL1):c.24G>A (p.Lys8=)	SALL1	Single nucleotide variant (synonymous variant)	SALL1-related condition	GLikely benign
Select item 3035419	NM_002968.3(SALL1):c.472_475delinsG (p.Ser158_Ser159delinsGly)	SALL1	Indel (inframe_indel)	SALL1-related condition	GLikely benign
Select item 3033708	NM_002968.3(SALL1):c.2928C>T (p.His976=)	SALL1	Single nucleotide variant (synonymous variant)	SALL1-related condition	GLikely benign
Select item 3032778	NM_002968.3(SALL1):c.242del (p.Pro81fs)	SALL1 (P81fs)	Deletion (5 prime UTR variant +1 more)	SALL1-related condition	GLikely pathogenic
Select item 3032249	NM_002968.3(SALL1):c.2643A>C (p.Leu881=)	SALL1	Single nucleotide variant (synonymous variant)	SALL1-related condition	GLikely benign
Select item 3031680	NM_002968.3(SALL1):c.1837G>A (p.Glu613Lys)	SALL1 (E516K +1 more)	Single nucleotide variant (missense variant)	SALL1-related condition	GUncertain significance
Select item 3031526	NM_002968.3(SALL1):c.1610C>G (p.Pro537Arg)	SALL1 (P440R +1 more)	Single nucleotide variant (missense variant)	SALL1-related condition	GUncertain significance
Select item 3029554	NM_002968.3(SALL1):c.1527C>T (p.Asn509=)	SALL1	Single nucleotide variant (synonymous variant)	SALL1-related condition	GLikely benign
Select item 3029546	NM_002968.3(SALL1):c.2638C>G (p.Gln880Glu)	SALL1 (Q783E +1 more)	Single nucleotide variant (missense variant)	SALL1-related condition	GUncertain significance
Select item 3029508	NM_002968.3(SALL1):c.3117C>T (p.Ser1039=)	SALL1	Single nucleotide variant (synonymous variant)	SALL1-related condition	GLikely benign
Select item 3025861	NM_002968.3(SALL1):c.2803A>T (p.Thr935Ser)	SALL1 (T838S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3011648	NM_002968.3(SALL1):c.1364C>G (p.Ala455Gly)	SALL1 (A358G +1 more)	Single nucleotide variant (missense variant)	Townes syndrome	GUncertain significance
Select item 2993447	NM_002968.3(SALL1):c.1458C>G (p.Phe486Leu)	SALL1 (F389L +1 more)	Single nucleotide variant (missense variant)	Townes syndrome	GUncertain significance
Select item 2981973	NM_002968.3(SALL1):c.477_478insAGCACC (p.Ser159_Gly160insSerThr)	SALL1	Insertion (inframe_insertion)	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 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 2918539	NM_002968.3(SALL1):c.1306T>G (p.Phe436Val)	SALL1 (F339V +1 more)	Single nucleotide variant (missense variant)	Townes syndrome	GUncertain significance
Select item 2917365	NM_002968.3(SALL1):c.1362C>T (p.Cys454=)	SALL1	Single nucleotide variant (synonymous variant)	Townes syndrome	GLikely benign
Select item 2915218	NM_002968.3(SALL1):c.1329T>G (p.Asp443Glu)	SALL1 (D346E +1 more)	Single nucleotide variant (missense variant)	Townes syndrome	GUncertain significance
Select item 2911093	NM_002968.3(SALL1):c.2027T>C (p.Phe676Ser)	SALL1 (F676S +1 more)	Single nucleotide variant (missense variant)	Townes syndrome	GUncertain significance
Select item 2897040	NM_002968.3(SALL1):c.2862C>T (p.Ser954=)	SALL1	Single nucleotide variant (synonymous variant)	Townes syndrome	GUncertain significance
Select item 2892316	NM_002968.3(SALL1):c.45C>T (p.Asp15=)	SALL1	Single nucleotide variant (synonymous variant)	Townes syndrome	GLikely benign
Select item 2877472	NM_002968.3(SALL1):c.819T>A (p.Gly273=)	SALL1	Single nucleotide variant (synonymous variant)	Townes syndrome	GLikely benign
Select item 2876762	NM_002968.3(SALL1):c.3000C>G (p.Asn1000Lys)	SALL1 (N903K +1 more)	Single nucleotide variant (missense variant)	Townes syndrome	GUncertain significance
Select item 2859473	NM_002968.3(SALL1):c.2535C>T (p.Asp845=)	SALL1	Single nucleotide variant (synonymous variant)	Townes syndrome	GLikely benign
Select item 2856402	NM_002968.3(SALL1):c.71G>T (p.Arg24Leu)	SALL1 (R24L)	Single nucleotide variant (missense variant)	Townes syndrome	GUncertain significance
Select item 2841443	NM_002968.3(SALL1):c.1763C>A (p.Pro588Gln)	SALL1 (P588Q +1 more)	Single nucleotide variant (missense variant)	Townes syndrome	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 2837510	NM_002968.3(SALL1):c.2325_2331dup (p.Ala778fs)	SALL1 (A681fs +1 more)	Duplication (frameshift variant)	Townes syndrome	GPathogenic
Select item 2834343	NM_002968.3(SALL1):c.2800A>G (p.Ser934Gly)	SALL1 (S837G +1 more)	Single nucleotide variant (missense variant)	Townes syndrome	GUncertain significance
Select item 2828754	NM_002968.3(SALL1):c.3128_3129del (p.Asn1043fs)	SALL1 (N1043fs +1 more)	Deletion (frameshift variant)	Townes syndrome	GPathogenic
Select item 2820019	NM_002968.3(SALL1):c.1728C>A (p.Ala576=)	SALL1	Single nucleotide variant (synonymous variant)	Townes syndrome	GLikely benign
Select item 2819122	NM_002968.3(SALL1):c.2511C>A (p.Ile837=)	SALL1	Single nucleotide variant (synonymous variant)	Townes syndrome	GLikely benign
Select item 2817408	NM_002968.3(SALL1):c.2555C>G (p.Ser852Cys)	SALL1 (S755C +1 more)	Single nucleotide variant (missense variant)	Townes syndrome	GUncertain significance
Select item 2817094	NM_002968.3(SALL1):c.2882C>T (p.Ser961Phe)	SALL1 (S864F +1 more)	Single nucleotide variant (missense variant)	Townes syndrome	GUncertain significance
Select item 2805918	NM_002968.3(SALL1):c.1234A>G (p.Thr412Ala)	SALL1 (T412A +1 more)	Single nucleotide variant (missense variant)	Townes syndrome	GUncertain significance
Select item 2804372	NM_002968.3(SALL1):c.1731C>G (p.Pro577=)	SALL1	Single nucleotide variant (synonymous variant)	Townes syndrome	GBenign
Select item 2802839	NM_002968.3(SALL1):c.549A>G (p.Thr183=)	SALL1	Single nucleotide variant (synonymous variant)	Townes syndrome	GLikely benign
Select item 2800066	NM_002968.3(SALL1):c.359A>T (p.Asp120Val)	SALL1 (D120V +1 more)	Single nucleotide variant (missense variant)	Townes syndrome	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 2785997	NM_002968.3(SALL1):c.2195G>A (p.Arg732Lys)	SALL1 (R635K +1 more)	Single nucleotide variant (missense variant)	Townes syndrome	GUncertain significance
Select item 2779747	NM_002968.3(SALL1):c.2416A>G (p.Met806Val)	SALL1 (M709V +1 more)	Single nucleotide variant (missense variant)	Townes syndrome	GUncertain significance
Select item 2777025	NM_002968.3(SALL1):c.419C>A (p.Ser140Tyr)	SALL1 (S140Y +1 more)	Single nucleotide variant (missense variant)	Townes syndrome	GUncertain significance
Select item 2777022	NM_002968.3(SALL1):c.630C>A (p.Phe210Leu)	SALL1 (F210L +1 more)	Single nucleotide variant (missense variant)	Townes syndrome	GUncertain significance
Select item 2767663	NM_002968.3(SALL1):c.651C>T (p.Gly217=)	SALL1	Single nucleotide variant (synonymous variant)	Townes syndrome	GLikely benign
Select item 2764730	NM_002968.3(SALL1):c.1871G>A (p.Ser624Asn)	SALL1 (S527N +1 more)	Single nucleotide variant (missense variant)	Townes syndrome	GLikely benign
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 2746526	NM_002968.3(SALL1):c.648C>T (p.Cys216=)	SALL1	Single nucleotide variant (synonymous variant)	Townes syndrome	GLikely benign
Select item 2745436	NM_002968.3(SALL1):c.3209A>G (p.Asn1070Ser)	SALL1 (N973S +1 more)	Single nucleotide variant (missense variant)	Townes syndrome	GUncertain significance
Select item 2745434	NM_002968.3(SALL1):c.76+5G>A	SALL1	Single nucleotide variant (intron variant)	Townes syndrome	GPathogenic
Select item 2736789	NM_002968.3(SALL1):c.2805G>A (p.Thr935=)	SALL1	Single nucleotide variant (synonymous variant)	Townes syndrome	GLikely benign
Select item 2732650	NM_002968.3(SALL1):c.1716G>A (p.Thr572=)	SALL1	Single nucleotide variant (synonymous variant)	Townes syndrome	GLikely benign
Select item 2731517	NM_002968.3(SALL1):c.972C>A (p.Ser324Arg)	SALL1 (S227R +1 more)	Single nucleotide variant (missense variant)	Townes syndrome	GUncertain significance
Select item 2730887	NM_002968.3(SALL1):c.243A>C (p.Pro81=)	SALL1	Single nucleotide variant (5 prime UTR variant +1 more)	Townes syndrome	GLikely benign
Select item 2728761	NM_002968.3(SALL1):c.2104G>A (p.Ala702Thr)	SALL1 (A702T +1 more)	Single nucleotide variant (missense variant)	Townes syndrome	GUncertain significance
Select item 2722026	NM_002968.3(SALL1):c.3963C>T (p.Ile1321=)	SALL1	Single nucleotide variant (synonymous variant)	Townes syndrome	GLikely benign
Select item 2720671	NM_002968.3(SALL1):c.2780A>G (p.Gln927Arg)	SALL1 (Q927R +1 more)	Single nucleotide variant (missense variant)	Townes syndrome	GUncertain significance
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 2714886	NM_002968.3(SALL1):c.2929G>A (p.Ala977Thr)	SALL1 (A977T +1 more)	Single nucleotide variant (missense variant)	Townes syndrome	GUncertain significance
Select item 2713073	NM_002968.3(SALL1):c.2356C>A (p.Arg786=)	SALL1	Single nucleotide variant (synonymous variant)	Townes syndrome	GLikely benign
Select item 2712464	NM_002968.3(SALL1):c.239C>A (p.Ser80Tyr)	SALL1 (S80Y)	Single nucleotide variant (5 prime UTR variant +1 more)	Townes syndrome	GUncertain significance
Select item 2703340	NM_002968.3(SALL1):c.1309G>T (p.Glu437Ter)	SALL1 (E340* +1 more)	Single nucleotide variant (nonsense)	Townes syndrome	GPathogenic
Select item 2701207	NM_002968.3(SALL1):c.2582C>T (p.Ser861Leu)	SALL1 (S764L +1 more)	Single nucleotide variant (missense variant)	Townes syndrome	GUncertain significance
Select item 2694137	NM_002968.3(SALL1):c.1183C>T (p.Gln395Ter)	SALL1 (Q395* +1 more)	Single nucleotide variant (nonsense)	Townes syndrome	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 2664181	NM_002968.3(SALL1):c.1705_1707dup (p.Phe569_Ile570insPhe)	SALL1	Duplication (inframe_insertion)	Townes-Brocks syndrome 1	GUncertain significance
Select item 2646530	NM_002968.3(SALL1):c.120G>A (p.Lys40=)	SALL1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2646529	NM_002968.3(SALL1):c.480_481insAGC (p.Gly160_Gly161insSer)	SALL1	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 2646528	NM_002968.3(SALL1):c.534A>C (p.Gln178His)	SALL1 (Q178H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2646527	NM_002968.3(SALL1):c.559A>G (p.Asn187Asp)	SALL1 (N187D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2646526	NM_002968.3(SALL1):c.633_634del (p.Gln212fs)	SALL1 (Q115fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2646525	NM_002968.3(SALL1):c.1252T>G (p.Ser418Ala)	SALL1 (S321A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2646524	NM_002968.3(SALL1):c.2070G>C (p.Lys690Asn)	SALL1 (K593N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2646523	NM_002968.3(SALL1):c.2431G>C (p.Gly811Arg)	SALL1 (G714R +1 more)	Single nucleotide variant (missense variant)	not provided	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 2636896	NM_002968.3(SALL1):c.1991C>T (p.Pro664Leu)	SALL1 (P567L +1 more)	Single nucleotide variant (missense variant)	SALL1-related condition +1 more	GUncertain significance
Select item 2635006	NM_002968.3(SALL1):c.44A>C (p.Asp15Ala)	SALL1 (D15A)	Single nucleotide variant (missense variant)	SALL1-related condition	GUncertain significance
Select item 2633739	NM_002968.3(SALL1):c.388C>G (p.Pro130Ala)	SALL1 (P130A +1 more)	Single nucleotide variant (missense variant)	SALL1-related condition	GUncertain significance
Select item 2632850	NM_002968.3(SALL1):c.211G>C (p.Val71Leu)	SALL1 (V71L)	Single nucleotide variant (5 prime UTR variant +1 more)	SALL1-related condition	GUncertain significance
Select item 2630177	NM_002968.3(SALL1):c.2225_2226del (p.Ala742fs)	SALL1 (A645fs +1 more)	Deletion (frameshift variant)	SALL1-related condition	GLikely pathogenic
Select item 2629896	NM_002968.3(SALL1):c.1568G>A (p.Ser523Asn)	SALL1 (S426N +1 more)	Single nucleotide variant (missense variant)	SALL1-related condition	GUncertain significance
Select item 2629861	NM_002968.3(SALL1):c.1867A>G (p.Lys623Glu)	SALL1 (K526E +1 more)	Single nucleotide variant (missense variant)	SALL1-related condition	GUncertain significance
Select item 2623490	NM_002968.3(SALL1):c.2627G>A (p.Gly876Asp)	SALL1 (G779D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2607797	NM_002968.3(SALL1):c.2633C>A (p.Ala878Glu)	SALL1 (A878E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2575797	NM_002968.3(SALL1):c.1160C>T (p.Ala387Val)	SALL1 (A290V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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