ClinVar for Gene (Select 6299) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3371875	NM_002968.3(SALL1):c.2804C>G (p.Thr935Arg)	SALL1 (T838R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370211	NM_002968.3(SALL1):c.1532A>G (p.Tyr511Cys)	SALL1 (Y414C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370102	NM_002968.3(SALL1):c.916C>G (p.Gln306Glu)	SALL1 (Q209E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366267	NM_002968.3(SALL1):c.98C>T (p.Pro33Leu)	SALL1 (P33L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
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 3360235	NM_002968.3(SALL1):c.3402C>G (p.His1134Gln)	SALL1 (H1037Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360095	NM_002968.3(SALL1):c.2814C>G (p.Phe938Leu)	SALL1 (F841L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358213	NM_002968.3(SALL1):c.1786G>A (p.Gly596Arg)	SALL1 (G499R +1 more)	Single nucleotide variant (missense variant)	SALL1-related disorder	GUncertain significance
Select item 3352426	NM_002968.3(SALL1):c.2055A>G (p.Ala685=)	SALL1	Single nucleotide variant (synonymous variant)	SALL1-related disorder	GLikely benign
Select item 3350318	NM_002968.3(SALL1):c.541G>A (p.Asp181Asn)	SALL1 (D181N +1 more)	Single nucleotide variant (missense variant)	SALL1-related disorder	GUncertain significance
Select item 3349543	NM_002968.3(SALL1):c.1282del (p.Ser428fs)	SALL1 (S331fs +1 more)	Deletion (frameshift variant)	SALL1-related disorder	GPathogenic
Select item 3349300	NM_002968.3(SALL1):c.3725C>A (p.Ser1242Tyr)	SALL1 (S1145Y +1 more)	Single nucleotide variant (missense variant)	SALL1-related disorder	GUncertain significance
Select item 3345014	NM_002968.3(SALL1):c.2778G>A (p.Met926Ile)	SALL1 (M829I +1 more)	Single nucleotide variant (missense variant)	SALL1-related disorder	GUncertain significance
Select item 3344531	NM_002968.3(SALL1):c.486del (p.Gly163fs)	SALL1 (G163fs +1 more)	Deletion (frameshift variant)	SALL1-related disorder	GLikely pathogenic
Select item 3344168	NM_002968.3(SALL1):c.886del (p.Ala296fs)	SALL1 (A296fs +1 more)	Deletion (frameshift variant)	SALL1-related disorder	GLikely pathogenic
Select item 3342430	NM_002968.3(SALL1):c.400_411dup (p.Ser137_Gly138insLysSerGlySer)	SALL1	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 3338766	NM_002968.3(SALL1):c.2222G>A (p.Arg741Gln)	SALL1 (R644Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337541	NM_002968.3(SALL1):c.3153dup (p.Gln1052fs)	SALL1 (Q1052fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 3336943	NM_002968.3(SALL1):c.591C>T (p.Ile197=)	SALL1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3336942	NM_002968.3(SALL1):c.1295del (p.Asn432fs)	SALL1 (N335fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3316029	NM_002968.3(SALL1):c.3328T>C (p.Ser1110Pro)	SALL1 (S1013P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316028	NM_002968.3(SALL1):c.1631C>G (p.Thr544Ser)	SALL1 (T544S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316027	NM_002968.3(SALL1):c.201A>T (p.Lys67Asn)	SALL1 (K67N)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3316026	NM_002968.3(SALL1):c.3878C>A (p.Pro1293His)	SALL1 (P1196H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316025	NM_002968.3(SALL1):c.2365A>G (p.Met789Val)	SALL1 (M789V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316024	NM_002968.3(SALL1):c.3277G>A (p.Val1093Met)	SALL1 (V1093M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316022	NM_002968.3(SALL1):c.2450A>G (p.Asn817Ser)	SALL1 (N720S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316021	NM_002968.3(SALL1):c.268C>A (p.Pro90Thr)	SALL1 (P90T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 3316020	NM_002968.3(SALL1):c.1910C>T (p.Ala637Val)	SALL1 (A637V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3255478	NC_000016.9:g.(?_48799549)_(70756330_?)dup	PRMT7, PRSS54 +195 more	Duplication	Chromosome 16q12 duplication syndrome	GLikely pathogenic
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 3253150	NM_002968.3(SALL1):c.2804C>T (p.Thr935Met)	SALL1 (T838M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252233	NM_002968.3(SALL1):c.391G>A (p.Val131Ile)	SALL1 (V131I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252137	NM_002968.3(SALL1):c.2282C>T (p.Pro761Leu)	SALL1 (P664L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251395	NM_002968.3(SALL1):c.3681T>G (p.Ser1227Arg)	SALL1 (S1130R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243395	NC_000016.9:g.(?_50731155)_(51631253_?)dup	CYLD, NOD2 +1 more	Duplication	Blau syndrome +1 more	GUncertain significance
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 3157559	NM_002968.3(SALL1):c.976T>G (p.Ser326Ala)	SALL1 (S326A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157558	NM_002968.3(SALL1):c.752G>A (p.Arg251His)	SALL1 (R154H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157557	NM_002968.3(SALL1):c.682G>T (p.Ala228Ser)	SALL1 (A131S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157556	NM_002968.3(SALL1):c.3886G>A (p.Gly1296Ser)	SALL1 (G1199S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157554	NM_002968.3(SALL1):c.3271G>A (p.Gly1091Ser)	SALL1 (G1091S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157553	NM_002968.3(SALL1):c.2924G>A (p.Ser975Asn)	SALL1 (S878N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157552	NM_002968.3(SALL1):c.2808G>A (p.Gln936=)	SALL1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3157551	NM_002968.3(SALL1):c.2536G>A (p.Ala846Thr)	SALL1 (A749T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157550	NM_002968.3(SALL1):c.2044T>C (p.Ser682Pro)	SALL1 (S585P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157549	NM_002968.3(SALL1):c.1594A>G (p.Ile532Val)	SALL1 (I532V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157547	NM_002968.3(SALL1):c.1106C>T (p.Ala369Val)	SALL1 (A369V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157546	NM_002968.3(SALL1):c.1093G>T (p.Val365Phe)	SALL1 (V365F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 disorder	GLikely benign
Select item 3052886	NM_002968.3(SALL1):c.*9G>A	SALL1	Single nucleotide variant (3 prime UTR variant)	SALL1-related disorder	GLikely benign
Select item 3052266	NM_002968.3(SALL1):c.2121G>A (p.Glu707=)	SALL1	Single nucleotide variant (synonymous variant)	SALL1-related disorder	GLikely benign
Select item 3050111	NM_002968.3(SALL1):c.3855C>G (p.Leu1285=)	SALL1	Single nucleotide variant (synonymous variant)	SALL1-related disorder	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 disorder	GLikely benign
Select item 3048586	NM_002968.3(SALL1):c.1992G>A (p.Pro664=)	SALL1	Single nucleotide variant (synonymous variant)	SALL1-related disorder	GLikely benign
Select item 3047672	NM_002968.3(SALL1):c.1143C>T (p.Ser381=)	SALL1	Single nucleotide variant (synonymous variant)	SALL1-related disorder	GLikely benign
Select item 3047264	NM_002968.3(SALL1):c.639A>G (p.Glu213=)	SALL1	Single nucleotide variant (synonymous variant)	SALL1-related disorder	GLikely benign
Select item 3046433	NM_002968.3(SALL1):c.478GGC[6] (p.Gly163_Ser164insGlyGly)	SALL1	Microsatellite (inframe_indel)	SALL1-related disorder	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 disorder	GLikely benign
Select item 3042092	NM_002968.3(SALL1):c.24G>A (p.Lys8=)	SALL1	Single nucleotide variant (synonymous variant)	SALL1-related disorder	GLikely benign
Select item 3035419	NM_002968.3(SALL1):c.472_475delinsG (p.Ser158_Ser159delinsGly)	SALL1	Indel (inframe_indel)	SALL1-related disorder	GLikely benign
Select item 3033708	NM_002968.3(SALL1):c.2928C>T (p.His976=)	SALL1	Single nucleotide variant (synonymous variant)	SALL1-related disorder	GLikely benign
Select item 3032778	NM_002968.3(SALL1):c.242del (p.Pro81fs)	SALL1 (P81fs)	Deletion (5 prime UTR variant +1 more)	SALL1-related disorder	GLikely pathogenic
Select item 3032249	NM_002968.3(SALL1):c.2643A>C (p.Leu881=)	SALL1	Single nucleotide variant (synonymous variant)	SALL1-related disorder	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 disorder	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 disorder	GUncertain significance
Select item 3029554	NM_002968.3(SALL1):c.1527C>T (p.Asn509=)	SALL1	Single nucleotide variant (synonymous variant)	SALL1-related disorder	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 disorder	GUncertain significance
Select item 3029508	NM_002968.3(SALL1):c.3117C>T (p.Ser1039=)	SALL1	Single nucleotide variant (synonymous variant)	SALL1-related disorder	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

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