ClinVar for Gene (Select 2737) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235005	NM_000168.6(GLI3):c.3816_3817del (p.Cys1272fs)	GLI3 (C1272fs)	Microsatellite (frameshift variant)	Polydactyly, postaxial, type A1	GUncertain significance
Select item 3234933	NM_000168.6(GLI3):c.356A>C (p.Glu119Ala)	GLI3 (E119A)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome	GUncertain significance
Select item 3234308	NM_000168.6(GLI3):c.4054T>C (p.Ser1352Pro)	GLI3 (S1352P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3100206	NM_000168.6(GLI3):c.863C>T (p.Pro288Leu)	GLI3 (P288L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100205	NM_000168.6(GLI3):c.4637C>G (p.Pro1546Arg)	GLI3 (P1546R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100204	NM_000168.6(GLI3):c.4265A>C (p.Lys1422Thr)	GLI3 (K1422T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100203	NM_000168.6(GLI3):c.4142G>T (p.Arg1381Met)	GLI3 (R1381M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100202	NM_000168.6(GLI3):c.4096G>T (p.Gly1366Trp)	GLI3 (G1366W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100199	NM_000168.6(GLI3):c.398C>G (p.Pro133Arg)	GLI3 (P133R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100198	NM_000168.6(GLI3):c.3956G>A (p.Gly1319Glu)	GLI3 (G1319E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100197	NM_000168.6(GLI3):c.3877C>A (p.Leu1293Met)	GLI3 (L1293M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100196	NM_000168.6(GLI3):c.3451C>T (p.Pro1151Ser)	GLI3 (P1151S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100195	NM_000168.6(GLI3):c.2851A>T (p.Met951Leu)	GLI3 (M951L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100194	NM_000168.6(GLI3):c.2736C>G (p.Ser912Arg)	GLI3 (S912R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100193	NM_000168.6(GLI3):c.2395C>T (p.Pro799Ser)	GLI3 (P799S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100192	NM_000168.6(GLI3):c.223C>A (p.Pro75Thr)	GLI3 (P75T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100191	NM_000168.6(GLI3):c.2224A>G (p.Ser742Gly)	GLI3 (S742G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3100190	NM_000168.6(GLI3):c.1474G>C (p.Asp492His)	GLI3 (D492H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067137	NM_000168.6(GLI3):c.2151del (p.Gln717fs)	GLI3 (Q717fs)	Deletion (frameshift variant)	Pallister-Hall syndrome +3 more	GLikely pathogenic
Select item 3066087	NM_000168.6(GLI3):c.508G>C (p.Asp170His)	GLI3 (D170H)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome	GUncertain significance
Select item 3064464	NM_000168.6(GLI3):c.2774A>C (p.Gln925Pro)	GLI3 (Q925P)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome	GUncertain significance
Select item 3062998	GRCh37/hg19 7p14.1(chr7:41942712-42378563)x3	GLI3	Copy number gain	not specified	GUncertain significance
Select item 3062976	GRCh37/hg19 7p14.1(chr7:42034018-42195168)x1	GLI3	Copy number loss	not specified	GPathogenic
Select item 3062975	GRCh37/hg19 7p14.1(chr7:38484106-42786613)x1	AMPH, CDK13 +8 more	Copy number loss	not specified	GPathogenic
Select item 3062311	NM_000168.6(GLI3):c.2876_2880dup (p.Gly961fs)	GLI3 (G961fs)	Duplication (frameshift variant)	Polysyndactyly 4 +3 more	GLikely pathogenic
Select item 3062247	NM_000168.6(GLI3):c.1325_1328dup (p.Ser445fs)	GLI3 (S445fs)	Duplication (frameshift variant)	Polysyndactyly 4 +3 more	GLikely pathogenic
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 3058737	NM_000168.6(GLI3):c.4122G>A (p.Pro1374=)	GLI3	Single nucleotide variant (synonymous variant)	GLI3-related disorder	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 3055126	NM_000168.6(GLI3):c.2104-6del	GLI3	Deletion (intron variant)	GLI3-related disorder	GLikely benign
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 3054472	NM_000168.6(GLI3):c.3400C>T (p.Leu1134=)	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 3051992	NM_000168.6(GLI3):c.2286T>C (p.Ala762=)	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 3050933	NM_000168.6(GLI3):c.2994G>A (p.Pro998=)	GLI3	Single nucleotide variant (synonymous variant)	GLI3-related disorder	GLikely benign
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 3040699	NM_000168.6(GLI3):c.1028+1G>T	GLI3	Single nucleotide variant (splice donor variant)	GLI3-related disorder	GLikely pathogenic
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 3035638	NM_000168.6(GLI3):c.601A>G (p.Met201Val)	GLI3 (M201V)	Single nucleotide variant (missense variant)	GLI3-related disorder	GUncertain significance
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 3032414	NM_000168.6(GLI3):c.4080A>G (p.Pro1360=)	GLI3	Single nucleotide variant (synonymous variant)	GLI3-related disorder	GLikely 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 3031887	NM_000168.6(GLI3):c.3318A>C (p.Ala1106=)	GLI3	Single nucleotide variant (synonymous variant)	GLI3-related disorder	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 3029896	NM_000168.6(GLI3):c.421C>A (p.His141Asn)	GLI3 (H141N)	Single nucleotide variant (missense variant)	GLI3-related disorder	GUncertain significance
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 3029845	NM_000168.6(GLI3):c.4731A>G (p.Ala1577=)	GLI3	Single nucleotide variant (synonymous variant)	GLI3-related disorder	GLikely benign
Select item 3026942	NM_000168.6(GLI3):c.45del (p.Val16fs)	GLI3 (V16fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3026529	NM_000168.6(GLI3):c.2431+1G>A	GLI3	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3025817	NM_000168.6(GLI3):c.4576A>G (p.Ser1526Gly)	GLI3 (S1526G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2954234	NM_000168.6(GLI3):c.1555_1567del (p.Asp519fs)	GLI3 (D519fs)	Deletion (frameshift variant)	Pallister-Hall syndrome +1 more	GPathogenic
Select item 2953926	NM_000168.6(GLI3):c.4081G>T (p.Glu1361Ter)	GLI3 (E1361*)	Single nucleotide variant (nonsense)	Pallister-Hall syndrome +1 more	GPathogenic
Select item 2953398	NM_000168.6(GLI3):c.532C>A (p.Pro178Thr)	GLI3 (P178T)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GUncertain significance
Select item 2952666	NM_000168.6(GLI3):c.4683C>G (p.Asp1561Glu)	GLI3 (D1561E)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GUncertain significance
Select item 2952476	NM_000168.6(GLI3):c.2623del (p.Arg875fs)	GLI3 (R875fs)	Deletion (frameshift variant)	Pallister-Hall syndrome +1 more	GPathogenic
Select item 2952080	NM_000168.6(GLI3):c.3110C>A (p.Thr1037Lys)	GLI3 (T1037K)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GLikely benign
Select item 2952046	NM_000168.6(GLI3):c.3114C>T (p.Ser1038=)	GLI3	Single nucleotide variant (synonymous variant)	Pallister-Hall syndrome +1 more	GBenign
Select item 2951447	NM_000168.6(GLI3):c.1674G>A (p.Ser558=)	GLI3	Single nucleotide variant (synonymous variant)	Pallister-Hall syndrome +1 more	GBenign
Select item 2950921	NM_000168.6(GLI3):c.2970C>T (p.Arg990=)	GLI3	Single nucleotide variant (synonymous variant)	Pallister-Hall syndrome +1 more	GBenign
Select item 2950899	NM_000168.6(GLI3):c.558del (p.Glu187fs)	GLI3 (E187fs)	Deletion (frameshift variant)	Pallister-Hall syndrome +1 more	GPathogenic
Select item 2950786	NM_000168.6(GLI3):c.1366G>A (p.Glu456Lys)	GLI3 (E456K)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GLikely benign
Select item 2950422	NM_000168.6(GLI3):c.3522C>T (p.Ser1174=)	GLI3	Single nucleotide variant (synonymous variant)	Pallister-Hall syndrome +1 more	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 2949515	NM_000168.6(GLI3):c.4315del (p.Tyr1439fs)	GLI3 (Y1439fs)	Deletion (frameshift variant)	Pallister-Hall syndrome +1 more	GPathogenic
Select item 2949056	NM_000168.6(GLI3):c.3630T>C (p.Ala1210=)	GLI3	Single nucleotide variant (synonymous variant)	Pallister-Hall syndrome +1 more	GLikely benign
Select item 2949053	NM_000168.6(GLI3):c.2711G>A (p.Arg904His)	GLI3 (R904H)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GUncertain significance
Select item 2948288	NM_000168.6(GLI3):c.2103+5G>A	GLI3	Single nucleotide variant (intron variant)	Pallister-Hall syndrome +1 more	GUncertain significance
Select item 2948018	NM_000168.6(GLI3):c.4322_4326del (p.Gly1441fs)	GLI3 (G1441fs)	Deletion (frameshift variant)	Pallister-Hall syndrome +1 more	GPathogenic
Select item 2947731	NM_000168.6(GLI3):c.2593_2628dup (p.Ser877_Glu878insGlyIleSerProCysPheSerSerArgArgSerSer)	GLI3	Duplication (inframe_insertion)	Pallister-Hall syndrome +1 more	GUncertain significance
Select item 2947291	NM_000168.6(GLI3):c.2719A>T (p.Ser907Cys)	GLI3 (S907C)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GUncertain significance
Select item 2947099	NM_000168.6(GLI3):c.1353G>T (p.Gln451His)	GLI3 (Q451H)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GUncertain significance
Select item 2947045	NM_000168.6(GLI3):c.4017_4018insG (p.Pro1340fs)	GLI3 (P1340fs)	Insertion (frameshift variant)	Pallister-Hall syndrome +1 more	GPathogenic
Select item 2946510	NM_000168.6(GLI3):c.1357-10C>T	GLI3	Single nucleotide variant (intron variant)	Pallister-Hall syndrome +1 more	GLikely benign
Select item 2946098	NM_000168.6(GLI3):c.2737G>A (p.Asp913Asn)	GLI3 (D913N)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GLikely benign
Select item 2945404	NM_000168.6(GLI3):c.1327C>G (p.Leu443Val)	GLI3 (L443V)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GUncertain significance
Select item 2944943	NM_000168.6(GLI3):c.1348G>T (p.Gly450Trp)	GLI3 (G450W)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GUncertain significance
Select item 2944363	NM_000168.6(GLI3):c.2961C>G (p.Tyr987Ter)	GLI3 (Y987*)	Single nucleotide variant (nonsense)	Pallister-Hall syndrome +1 more	GPathogenic
Select item 2943786	NM_000168.6(GLI3):c.3442C>T (p.Gln1148Ter)	GLI3 (Q1148*)	Single nucleotide variant (nonsense)	Pallister-Hall syndrome +1 more	GPathogenic
Select item 2943681	NM_000168.6(GLI3):c.2884G>C (p.Asp962His)	GLI3 (D962H)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GUncertain significance
Select item 2943519	NM_000168.6(GLI3):c.3818G>T (p.Gly1273Val)	GLI3 (G1273V)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GLikely benign
Select item 2942350	NM_000168.6(GLI3):c.4020del (p.Gly1341fs)	GLI3 (G1341fs)	Deletion (frameshift variant)	Pallister-Hall syndrome +1 more	GPathogenic
Select item 2941939	NM_000168.6(GLI3):c.2264C>T (p.Ser755Phe)	GLI3 (S755F)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GUncertain significance
Select item 2941321	NM_000168.6(GLI3):c.2046T>C (p.Thr682=)	GLI3	Single nucleotide variant (synonymous variant)	Greig cephalopolysyndactyly syndrome +1 more	GLikely benign
Select item 2940922	NM_000168.6(GLI3):c.12G>T (p.Gln4His)	GLI3 (Q4H)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +1 more	GUncertain significance
Select item 2940921	NM_000168.6(GLI3):c.17A>C (p.His6Pro)	GLI3 (H6P)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +1 more	GUncertain significance
Select item 2940614	NM_000168.6(GLI3):c.3374G>A (p.Gly1125Glu)	GLI3 (G1125E)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +1 more	GUncertain significance
Select item 2940418	NM_000168.6(GLI3):c.2044A>G (p.Thr682Ala)	GLI3 (T682A)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +1 more	GLikely benign
Select item 2939127	NM_000168.6(GLI3):c.3892C>G (p.Pro1298Ala)	GLI3 (P1298A)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GUncertain significance
Select item 2938774	NM_000168.6(GLI3):c.1028+12C>A	GLI3	Single nucleotide variant (intron variant)	Pallister-Hall syndrome +1 more	GLikely benign
Select item 2938617	NM_000168.6(GLI3):c.4564G>C (p.Ala1522Pro)	GLI3 (A1522P)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GLikely benign
Select item 2938057	NM_000168.6(GLI3):c.2432-17C>T	GLI3	Single nucleotide variant (intron variant)	Pallister-Hall syndrome +1 more	GLikely benign
Select item 2937688	NM_000168.6(GLI3):c.538C>T (p.Arg180Trp)	GLI3 (R180W)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GBenign
Select item 2937558	NM_000168.6(GLI3):c.4331A>G (p.Tyr1444Cys)	GLI3 (Y1444C)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GLikely benign
Select item 2937390	NM_000168.6(GLI3):c.3100G>A (p.Ala1034Thr)	GLI3 (A1034T)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GLikely benign
Select item 2937320	NM_000168.6(GLI3):c.2993C>G (p.Pro998Arg)	GLI3 (P998R)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GBenign
Select item 2937053	NM_000168.6(GLI3):c.1812+7A>T	GLI3	Single nucleotide variant (intron variant)	Pallister-Hall syndrome +1 more	GLikely benign
Select item 2936654	NM_000168.6(GLI3):c.26C>T (p.Thr9Met)	GLI3 (T9M)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GLikely benign
Select item 2936541	NM_000168.6(GLI3):c.1629G>A (p.Glu543=)	GLI3	Single nucleotide variant (synonymous variant)	Pallister-Hall syndrome +1 more	GBenign
Select item 2936405	NM_000168.6(GLI3):c.3620_3621delinsAA (p.Ser1207Lys)	GLI3 (S1207K)	Indel (missense variant)	Pallister-Hall syndrome +1 more	GUncertain significance

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