CN239292[trait identifier] AND "PreventionGenetics, part of Exact Scie - ClinVar

Search results

Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1264840	NM_000168.6(GLI3):c.*9A>G	GLI3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 459215	NM_000168.6(GLI3):c.4740A>G (p.Gln1580=)	GLI3	Single nucleotide variant (synonymous variant)	Greig cephalopolysyndactyly syndrome +2 more	GLikely benign
Select item 3029845	NM_000168.6(GLI3):c.4731A>G (p.Ala1577=)	GLI3	Single nucleotide variant (synonymous variant)	GLI3-related disorder	GLikely benign
Select item 3051813	NM_000168.6(GLI3):c.4680G>A (p.Gly1560=)	GLI3	Single nucleotide variant (synonymous variant)	GLI3-related disorder	GLikely benign
Select item 3053348	NM_000168.6(GLI3):c.4677C>A (p.Ile1559=)	GLI3	Single nucleotide variant (synonymous variant)	GLI3-related disorder	GLikely benign
Select item 800169	NM_000168.6(GLI3):c.4654A>C (p.Met1552Leu)	GLI3 (M1552L)	Single nucleotide variant (missense variant)	GLI3-related disorder +3 more	GLikely benign
Select item 2631002	NM_000168.6(GLI3):c.4621_4625dup (p.Ala1543fs)	GLI3 (A1543fs)	Duplication (frameshift variant)	GLI3-related disorder	GLikely pathogenic
Select item 3043643	NM_000168.6(GLI3):c.4620G>A (p.Thr1540=)	GLI3	Single nucleotide variant (synonymous variant)	GLI3-related disorder	GLikely benign
Select item 2950143	NM_000168.6(GLI3):c.4605C>T (p.Ser1535=)	GLI3	Single nucleotide variant (synonymous variant)	Pallister-Hall syndrome +2 more	GLikely benign
Select item 2254924	NM_000168.6(GLI3):c.4559C>T (p.Ser1520Leu)	GLI3 (S1520L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1447837	NM_000168.6(GLI3):c.4427A>T (p.Asn1476Ile)	GLI3 (N1476I)	Single nucleotide variant (missense variant)	GLI3-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 1974997	NM_000168.6(GLI3):c.4392C>A (p.Asp1464Glu)	GLI3 (D1464E)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2632417	NM_000168.6(GLI3):c.4317C>G (p.Tyr1439Ter)	GLI3 (Y1439*)	Single nucleotide variant (nonsense)	GLI3-related disorder	GLikely pathogenic
Select item 2633909	NM_000168.6(GLI3):c.4168G>A (p.Gly1390Arg)	GLI3 (G1390R)	Single nucleotide variant (missense variant)	GLI3-related disorder	GUncertain significance
Select item 3058737	NM_000168.6(GLI3):c.4122G>A (p.Pro1374=)	GLI3	Single nucleotide variant (synonymous variant)	GLI3-related disorder	GLikely benign
Select item 3032414	NM_000168.6(GLI3):c.4080A>G (p.Pro1360=)	GLI3	Single nucleotide variant (synonymous variant)	GLI3-related disorder	GLikely benign
Select item 360226	NM_000168.6(GLI3):c.4005G>A (p.Pro1335=)	GLI3	Single nucleotide variant (synonymous variant)	Pallister-Hall syndrome +7 more	GBenign/Likely benign
Select item 435328	NM_000168.6(GLI3):c.3987C>T (p.Gly1329=)	GLI3	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 283130	NM_000168.6(GLI3):c.3935T>G (p.Met1312Arg)	GLI3 (M1312R)	Single nucleotide variant (missense variant)	GLI3-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 255439	NM_000168.6(GLI3):c.3894G>A (p.Pro1298=)	GLI3	Single nucleotide variant (synonymous variant)	Pallister-Hall syndrome +3 more	GBenign/Likely benign
Select item 3032151	NM_000168.6(GLI3):c.3885C>T (p.Phe1295=)	GLI3	Single nucleotide variant (synonymous variant)	GLI3-related disorder	GLikely benign
Select item 528808	NM_000168.6(GLI3):c.3804C>T (p.Leu1268=)	GLI3	Single nucleotide variant (synonymous variant)	Greig cephalopolysyndactyly syndrome +2 more	GLikely benign
Select item 3061262	NM_000168.6(GLI3):c.3787G>A (p.Val1263Met)	GLI3 (V1263M)	Single nucleotide variant (missense variant)	GLI3-related disorder	GUncertain significance
Select item 284525	NM_000168.6(GLI3):c.3762T>C (p.Tyr1254=)	GLI3	Single nucleotide variant (synonymous variant)	GLI3-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 2631519	NM_000168.6(GLI3):c.3751G>T (p.Ala1251Ser)	GLI3 (A1251S)	Single nucleotide variant (missense variant)	GLI3-related disorder	GUncertain significance
Select item 2633339	NM_000168.6(GLI3):c.3706G>A (p.Gly1236Arg)	GLI3 (G1236R)	Single nucleotide variant (missense variant)	GLI3-related disorder	GUncertain significance
Select item 2635565	NM_000168.6(GLI3):c.3638A>G (p.Tyr1213Cys)	GLI3 (Y1213C)	Single nucleotide variant (missense variant)	GLI3-related disorder	GUncertain significance
Select item 2637291	NM_000168.6(GLI3):c.3523del (p.Ser1175fs)	GLI3 (S1175fs)	Deletion (frameshift variant)	GLI3-related disorder	GLikely pathogenic
Select item 3054472	NM_000168.6(GLI3):c.3400C>T (p.Leu1134=)	GLI3	Single nucleotide variant (synonymous variant)	GLI3-related disorder	GLikely benign
Select item 444718	NM_000168.6(GLI3):c.3351G>A (p.Pro1117=)	GLI3	Single nucleotide variant (synonymous variant)	Pallister-Hall syndrome +3 more	GLikely benign
Select item 3031887	NM_000168.6(GLI3):c.3318A>C (p.Ala1106=)	GLI3	Single nucleotide variant (synonymous variant)	GLI3-related disorder	GLikely benign
Select item 779004	NM_000168.6(GLI3):c.3261C>T (p.Asn1087=)	GLI3	Single nucleotide variant (synonymous variant)	Greig cephalopolysyndactyly syndrome +5 more	GBenign/Likely benign
Select item 360230	NM_000168.6(GLI3):c.3208A>T (p.Thr1070Ser)	GLI3 (T1070S)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +5 more	GBenign/Likely benign
Select item 3029852	NM_000168.6(GLI3):c.3133G>C (p.Val1045Leu)	GLI3 (V1045L)	Single nucleotide variant (missense variant)	GLI3-related disorder	GUncertain significance
Select item 360232	NM_000168.6(GLI3):c.3117G>A (p.Ala1039=)	GLI3	Single nucleotide variant (synonymous variant)	Pallister-Hall syndrome +3 more	GBenign
Select item 2198979	NM_000168.6(GLI3):c.3092A>G (p.Asn1031Ser)	GLI3 (N1031S)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +2 more	GConflicting classifications of pathogenicity
Select item 360233	NM_000168.6(GLI3):c.3015C>T (p.Ala1005=)	GLI3	Single nucleotide variant (synonymous variant)	Pallister-Hall syndrome +4 more	GBenign
Select item 255434	NM_000168.6(GLI3):c.3001G>A (p.Gly1001Ser)	GLI3 (G1001S)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +6 more	GBenign/Likely benign
Select item 3050933	NM_000168.6(GLI3):c.2994G>A (p.Pro998=)	GLI3	Single nucleotide variant (synonymous variant)	GLI3-related disorder	GLikely benign
Select item 762228	NM_000168.6(GLI3):c.2966G>T (p.Arg989Leu)	GLI3 (R989L)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +2 more	GLikely benign
Select item 2169477	NM_000168.6(GLI3):c.2961C>T (p.Tyr987=)	GLI3	Single nucleotide variant (synonymous variant)	GLI3-related disorder +2 more	GBenign/Likely benign
Select item 2316152	NM_000168.6(GLI3):c.2853G>C (p.Met951Ile)	GLI3 (M951I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2178792	NM_000168.6(GLI3):c.2803G>A (p.Ala935Thr)	GLI3 (A935T)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +2 more	GBenign/Likely benign
Select item 2637064	NM_000168.6(GLI3):c.2692A>G (p.Ile898Val)	GLI3 (I898V)	Single nucleotide variant (missense variant)	GLI3-related disorder	GUncertain significance
Select item 2633275	NM_000168.6(GLI3):c.2664_2676del (p.Asn888fs)	GLI3 (N888fs)	Deletion (frameshift variant)	GLI3-related disorder	GLikely pathogenic
Select item 2631639	NM_000168.6(GLI3):c.2610C>A (p.Cys870Ter)	GLI3 (C870*)	Single nucleotide variant (nonsense)	GLI3-related disorder	GLikely pathogenic
Select item 2635435	NM_000168.6(GLI3):c.2584C>T (p.Arg862Cys)	GLI3 (R862C)	Single nucleotide variant (missense variant)	GLI3-related disorder	GUncertain significance
Select item 2074199	NM_000168.6(GLI3):c.2501C>G (p.Ser834Cys)	GLI3 (S834C)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2631801	NM_000168.6(GLI3):c.2488A>G (p.Arg830Gly)	GLI3 (R830G)	Single nucleotide variant (missense variant)	GLI3-related disorder	GUncertain significance
Select item 2633718	NM_000168.6(GLI3):c.2482C>T (p.Pro828Ser)	GLI3 (P828S)	Single nucleotide variant (missense variant)	GLI3-related disorder	GUncertain significance
Select item 3051992	NM_000168.6(GLI3):c.2286T>C (p.Ala762=)	GLI3	Single nucleotide variant (synonymous variant)	GLI3-related disorder	GLikely benign
Select item 284912	NM_000168.6(GLI3):c.2245A>G (p.Ile749Val)	GLI3 (I749V)	Single nucleotide variant (missense variant)	GLI3-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 3055126	NM_000168.6(GLI3):c.2104-6del	GLI3	Deletion (intron variant)	GLI3-related disorder	GLikely benign
Select item 360239	NM_000168.6(GLI3):c.2083G>A (p.Val695Ile)	GLI3 (V695I)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +3 more	GBenign/Likely benign
Select item 2161909	NM_000168.6(GLI3):c.2003C>T (p.Pro668Leu)	GLI3 (P668L)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +2 more	GBenign/Likely benign
Select item 3040533	NM_000168.6(GLI3):c.1991C>A (p.Ser664Ter)	GLI3 (S664*)	Single nucleotide variant (nonsense)	GLI3-related disorder	GLikely pathogenic
Select item 13820	NM_000168.6(GLI3):c.1927C>T (p.Arg643Ter)	GLI3 (R643*)	Single nucleotide variant (nonsense)	Abnormality of prenatal development or birth +1 more	GPathogenic
Select item 2922495	NM_000168.6(GLI3):c.1902A>T (p.Pro634=)	GLI3	Single nucleotide variant (synonymous variant)	Pallister-Hall syndrome +2 more	GBenign/Likely benign
Select item 2630246	NM_000168.6(GLI3):c.1894C>T (p.His632Tyr)	GLI3 (H632Y)	Single nucleotide variant (missense variant)	GLI3-related disorder	GUncertain significance
Select item 2630506	NM_000168.6(GLI3):c.1864A>C (p.Ser622Arg)	GLI3 (S622R)	Single nucleotide variant (missense variant)	GLI3-related disorder	GUncertain significance
Select item 2634859	NM_000168.6(GLI3):c.1777C>A (p.Arg593Ser)	GLI3 (R593S)	Single nucleotide variant (missense variant)	GLI3-related disorder	GUncertain significance
Select item 1652942	NM_000168.6(GLI3):c.1740C>T (p.His580=)	GLI3	Single nucleotide variant (synonymous variant)	Greig cephalopolysyndactyly syndrome +4 more	GLikely benign
Select item 3055462	NM_000168.6(GLI3):c.1641A>G (p.Lys547=)	GLI3	Single nucleotide variant (synonymous variant)	GLI3-related disorder	GLikely benign
Select item 2636999	NM_000168.6(GLI3):c.1570C>A (p.Gln524Lys)	GLI3 (Q524K)	Single nucleotide variant (missense variant)	GLI3-related disorder	GUncertain significance
Select item 360245	NM_000168.6(GLI3):c.1497C>T (p.His499=)	GLI3	Single nucleotide variant (synonymous variant)	Pallister-Hall syndrome +3 more	GBenign/Likely benign
Select item 2635622	NM_000168.6(GLI3):c.1448_1463dup (p.Arg489fs)	GLI3 (R489fs)	Duplication (frameshift variant)	GLI3-related disorder	GLikely pathogenic
Select item 2414391	NM_000168.6(GLI3):c.1463C>T (p.Ala488Val)	GLI3 (A488V)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +2 more	GConflicting classifications of pathogenicity
Select item 703306	NM_000168.6(GLI3):c.1386G>A (p.Lys462=)	GLI3	Single nucleotide variant (synonymous variant)	GLI3-related disorder +2 more	GBenign/Likely benign
Select item 3032687	NM_000168.6(GLI3):c.1382T>C (p.Val461Ala)	GLI3 (V461A)	Single nucleotide variant (missense variant)	GLI3-related disorder	GUncertain significance
Select item 2631529	NM_000168.6(GLI3):c.1369G>A (p.Gly457Arg)	GLI3 (G457R)	Single nucleotide variant (missense variant)	GLI3-related disorder	GUncertain significance
Select item 704397	NM_000168.6(GLI3):c.1365C>T (p.Pro455=)	GLI3	Single nucleotide variant (synonymous variant)	GLI3-related disorder +4 more	GBenign/Likely benign
Select item 727653	NM_000168.6(GLI3):c.1357-9T>A	GLI3	Single nucleotide variant (intron variant)	GLI3-related disorder +4 more	GLikely benign
Select item 908133	NM_000168.6(GLI3):c.1356+10C>A	GLI3	Single nucleotide variant (intron variant)	GLI3-related disorder +3 more	GBenign/Likely benign
Select item 753475	NM_000168.6(GLI3):c.1356+10C>T	GLI3	Single nucleotide variant (intron variant)	GLI3-related disorder +1 more	GLikely benign
Select item 908134	NM_000168.6(GLI3):c.1221C>T (p.Ser407=)	GLI3	Single nucleotide variant (synonymous variant)	GLI3-related disorder +4 more	GLikely benign
Select item 2080619	NM_000168.6(GLI3):c.1194G>A (p.Thr398=)	GLI3	Single nucleotide variant (synonymous variant)	Greig cephalopolysyndactyly syndrome +2 more	GLikely benign
Select item 3031051	NM_000168.6(GLI3):c.1062C>G (p.Pro354=)	GLI3	Single nucleotide variant (synonymous variant)	GLI3-related disorder	GLikely benign
Select item 800161	NM_000168.6(GLI3):c.1028+3A>T	GLI3	Single nucleotide variant (intron variant)	GLI3-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 3040699	NM_000168.6(GLI3):c.1028+1G>T	GLI3	Single nucleotide variant (splice donor variant)	GLI3-related disorder	GLikely pathogenic
Select item 3054733	NM_000168.6(GLI3):c.936G>A (p.Thr312=)	GLI3	Single nucleotide variant (synonymous variant)	GLI3-related disorder	GLikely benign
Select item 255450	NM_000168.6(GLI3):c.840C>G (p.Ser280=)	GLI3	Single nucleotide variant (synonymous variant)	Pallister-Hall syndrome +7 more	GBenign/Likely benign
Select item 2630830	NM_000168.6(GLI3):c.758A>T (p.Asp253Val)	GLI3 (D253V)	Single nucleotide variant (missense variant)	GLI3-related disorder	GUncertain significance
Select item 2629875	NM_000168.6(GLI3):c.669C>G (p.Ser223Arg)	GLI3 (S223R)	Single nucleotide variant (missense variant)	GLI3-related disorder	GUncertain significance
Select item 571572	NM_000168.6(GLI3):c.659G>A (p.Arg220His)	GLI3 (R220H)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +2 more	GConflicting classifications of pathogenicity
Select item 3035638	NM_000168.6(GLI3):c.601A>G (p.Met201Val)	GLI3 (M201V)	Single nucleotide variant (missense variant)	GLI3-related disorder	GUncertain significance
Select item 704619	NM_000168.6(GLI3):c.567C>T (p.Pro189=)	GLI3	Single nucleotide variant (synonymous variant)	GLI3-related disorder +3 more	GLikely benign
Select item 509379	NM_000168.6(GLI3):c.563C>A (p.Ser188Tyr)	GLI3 (S188Y)	Single nucleotide variant (missense variant)	GLI3-related disorder +4 more	GLikely benign
Select item 643390	NM_000168.6(GLI3):c.539G>A (p.Arg180Gln)	GLI3 (R180Q)	Single nucleotide variant (missense variant)	GLI3-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 2039161	NM_000168.6(GLI3):c.474-3C>T	GLI3	Single nucleotide variant (intron variant)	Pallister-Hall syndrome +2 more	GConflicting classifications of pathogenicity
Select item 3029896	NM_000168.6(GLI3):c.421C>A (p.His141Asn)	GLI3 (H141N)	Single nucleotide variant (missense variant)	GLI3-related disorder	GUncertain significance
Select item 360257	NM_000168.6(GLI3):c.411T>C (p.Ile137=)	GLI3	Single nucleotide variant (synonymous variant)	Pallister-Hall syndrome +6 more	GLikely benign
Select item 2635704	NM_000168.6(GLI3):c.371CTC[1] (p.Pro125del)	GLI3 (P125del)	Microsatellite (inframe_deletion)	GLI3-related disorder	GUncertain significance
Select item 289225	NM_000168.6(GLI3):c.363C>T (p.His121=)	GLI3	Single nucleotide variant (synonymous variant)	GLI3-related disorder +4 more	GBenign/Likely benign
Select item 360260	NM_000168.6(GLI3):c.341G>A (p.Arg114Lys)	GLI3 (R114K)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +7 more	GBenign/Likely benign
Select item 976534	NM_000168.6(GLI3):c.240C>T (p.Asp80=)	GLI3	Single nucleotide variant (synonymous variant)	Greig cephalopolysyndactyly syndrome +4 more	GLikely benign
Select item 779005	NM_000168.6(GLI3):c.168C>T (p.Asn56=)	GLI3	Single nucleotide variant (synonymous variant)	GLI3-related disorder +5 more	GBenign/Likely benign

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Items: 96