GLI3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 149132	GRCh38/hg38 7p14.2-14.1(chr7:35460776-42013800)x1	AMPH, ANLN +197 more	Copy number loss	See cases	GPathogenic
Select item 148053	GRCh38/hg38 7p14.1-12.3(chr7:37303478-48660738)x1	LOC121175342, LOC121740678 +380 more	Copy number loss	See cases	GPathogenic
Select item 154192	GRCh38/hg38 7p14.1-13(chr7:38177999-45304100)x1	AEBP1, AMPH +288 more	Copy number loss	See cases	GPathogenic
Select item 148230	GRCh38/hg38 7p14.1-13(chr7:39063400-45363096)x1	LOC129998373, LOC129998374 +231 more	Copy number loss	See cases	GPathogenic
Select item 59304	GRCh38/hg38 7p14.1-12.3(chr7:39814159-45749735)x1	SNORA5A, SNORA5B +212 more	Copy number loss	See cases	GPathogenic
Select item 147754	GRCh38/hg38 7p14.1-12.1(chr7:40020598-50543500)x1	ABCA13, ADCY1 +317 more	Copy number loss	See cases	GPathogenic
Select item 146855	GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1	ABCA13, ADCY1 +426 more	Copy number loss	See cases	GPathogenic
Select item 146580	GRCh38/hg38 7p14.1(chr7:41084766-42566517)x1	GLI3, INHBA +20 more	Copy number loss	See cases	GPathogenic
Select item 1269302	NC_000007.14:g.41960903C>T	GLI3	Single nucleotide variant	not provided	GBenign
Select item 369588	NM_000168.5(GLI3):c.*3392G>T	GLI3	Single nucleotide variant	not provided +3 more	GBenign
Select item 13813	NC_000007.14:g.(?_41960949)_(42264268_?)del	GLI3, LOC110120590 +2 more	Deletion	Greig cephalopolysyndactyly syndrome	GPathogenic
Select item 360155	NM_000168.6(GLI3):c.*3369C>A	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +2 more	GUncertain significance
Select item 360156	NM_000168.6(GLI3):c.*3341dup	GLI3	Duplication (3 prime UTR variant)	not provided +3 more	GBenign
Select item 360157	NM_000168.6(GLI3):c.*3309C>A	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +2 more	GConflicting classifications of pathogenicity
Select item 360158	NM_000168.6(GLI3):c.*3262A>G	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +3 more	GBenign/Likely benign
Select item 360159	NM_000168.6(GLI3):c.*3238C>T	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +2 more	GBenign
Select item 360160	NM_000168.6(GLI3):c.*3094T>C	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +2 more	GUncertain significance
Select item 360161	NM_000168.6(GLI3):c.*3004G>A	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +2 more	GBenign
Select item 910290	NM_000168.6(GLI3):c.*3002A>G	GLI3	Single nucleotide variant (3 prime UTR variant)	Greig cephalopolysyndactyly syndrome +1 more	GUncertain significance
Select item 910291	NM_000168.6(GLI3):c.*2861T>G	GLI3	Single nucleotide variant (3 prime UTR variant)	Greig cephalopolysyndactyly syndrome +1 more	GUncertain significance
Select item 2657407	NM_000168.6(GLI3):c.*2859G>A	GLI3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 360162	NM_000168.6(GLI3):c.*2757C>T	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +3 more	GBenign
Select item 911505	NM_000168.6(GLI3):c.*2744T>G	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +1 more	GUncertain significance
Select item 360163	NM_000168.6(GLI3):c.*2715G>A	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +3 more	GBenign/Likely benign
Select item 360164	NM_000168.6(GLI3):c.*2676C>T	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +2 more	GUncertain significance
Select item 360165	NM_000168.6(GLI3):c.*2666G>A	GLI3	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 360166	NM_000168.6(GLI3):c.*2620C>G	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +2 more	GConflicting classifications of pathogenicity
Select item 908536	NM_000168.6(GLI3):c.*2612A>G	GLI3	Single nucleotide variant (3 prime UTR variant)	Greig cephalopolysyndactyly syndrome +1 more	GUncertain significance
Select item 909401	NM_000168.6(GLI3):c.*2517G>A	GLI3	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 360167	NM_000168.6(GLI3):c.*2508G>C	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +2 more	GUncertain significance
Select item 360168	NM_000168.6(GLI3):c.*2465G>C	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +2 more	GUncertain significance
Select item 360169	NM_000168.6(GLI3):c.*2419T>C	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +2 more	GUncertain significance
Select item 1321545	NM_000168.6(GLI3):c.*2358dup	GLI3	Duplication (3 prime UTR variant)	not provided	GLikely benign
Select item 360170	NM_000168.6(GLI3):c.*2358del	GLI3	Deletion (3 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 360171	NM_000168.6(GLI3):c.*2357T>A	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +3 more	GBenign/Likely benign
Select item 360172	NM_000168.6(GLI3):c.*2347C>A	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +2 more	GLikely benign
Select item 360173	NM_000168.6(GLI3):c.*2276T>C	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +2 more	GConflicting classifications of pathogenicity
Select item 360174	NM_000168.6(GLI3):c.*2257A>T	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +2 more	GUncertain significance
Select item 360175	NM_000168.6(GLI3):c.*2216T>C	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +2 more	GUncertain significance
Select item 911564	NM_000168.6(GLI3):c.*2176G>C	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +1 more	GUncertain significance
Select item 360176	NM_000168.6(GLI3):c.2146_2150del	GLI3	Deletion (3 prime UTR variant)	Polydactyly +2 more	GUncertain significance
Select item 360177	NM_000168.6(GLI3):c.*2117A>G	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +2 more	GBenign
Select item 908612	NM_000168.6(GLI3):c.*2089G>A	GLI3	Single nucleotide variant (3 prime UTR variant)	Greig cephalopolysyndactyly syndrome +1 more	GUncertain significance
Select item 360178	NM_000168.6(GLI3):c.*2071C>T	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +2 more	GLikely benign
Select item 908613	NM_000168.6(GLI3):c.*2050T>G	GLI3	Single nucleotide variant (3 prime UTR variant)	Pallister-Hall syndrome +2 more	GBenign
Select item 360179	NM_000168.6(GLI3):c.*2019C>T	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +2 more	GBenign
Select item 360180	NM_000168.6(GLI3):c.*1858C>T	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +2 more	GUncertain significance
Select item 360181	NM_000168.6(GLI3):c.*1780C>T	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +2 more	GUncertain significance
Select item 360182	NM_000168.6(GLI3):c.*1691C>T	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +2 more	GBenign
Select item 360183	NM_000168.6(GLI3):c.*1688C>G	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +2 more	GUncertain significance
Select item 360184	NM_000168.6(GLI3):c.*1623A>G	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +2 more	GBenign
Select item 910409	NM_000168.6(GLI3):c.*1553T>G	GLI3	Single nucleotide variant (3 prime UTR variant)	Greig cephalopolysyndactyly syndrome +1 more	GUncertain significance
Select item 360185	NM_000168.6(GLI3):c.*1471C>T	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +2 more	GUncertain significance
Select item 911630	NM_000168.6(GLI3):c.*1470A>C	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +1 more	GUncertain significance
Select item 360186	NM_000168.6(GLI3):c.*1464A>G	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +2 more	GBenign
Select item 360187	NM_000168.6(GLI3):c.*1411G>A	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +2 more	GBenign
Select item 908682	NM_000168.6(GLI3):c.*1399T>C	GLI3	Single nucleotide variant (3 prime UTR variant)	Greig cephalopolysyndactyly syndrome +1 more	GUncertain significance
Select item 360188	NM_000168.6(GLI3):c.*1386A>G	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +2 more	GUncertain significance
Select item 360189	NM_000168.6(GLI3):c.*1366C>T	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +2 more	GUncertain significance
Select item 908683	NM_000168.6(GLI3):c.*1332C>T	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +1 more	GUncertain significance
Select item 360190	NM_000168.6(GLI3):c.*1297G>A	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +2 more	GBenign
Select item 360191	NM_000168.6(GLI3):c.*1296T>C	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +2 more	GBenign
Select item 360192	NM_000168.6(GLI3):c.*1263C>T	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +2 more	GUncertain significance
Select item 360193	NM_000168.6(GLI3):c.*1239T>A	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +2 more	GUncertain significance
Select item 360194	NM_000168.6(GLI3):c.*1087A>T	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +2 more	GBenign
Select item 360195	NM_000168.6(GLI3):c.*1080G>A	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +2 more	GBenign
Select item 360196	NM_000168.6(GLI3):c.*1042dup	GLI3	Duplication (3 prime UTR variant)	Polydactyly +2 more	GLikely benign
Select item 360197	NM_000168.6(GLI3):c.*1027C>T	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +2 more	GUncertain significance
Select item 360198	NM_000168.6(GLI3):c.*1007G>A	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +2 more	GUncertain significance
Select item 360199	NM_000168.6(GLI3):c.*974T>A	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +2 more	GUncertain significance
Select item 360200	NM_000168.6(GLI3):c.*943G>A	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +2 more	GBenign
Select item 360201	NM_000168.6(GLI3):c.*911A>G	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +2 more	GBenign
Select item 908742	NM_000168.6(GLI3):c.*889T>C	GLI3	Single nucleotide variant (3 prime UTR variant)	Greig cephalopolysyndactyly syndrome +1 more	GUncertain significance
Select item 360202	NM_000168.6(GLI3):c.*847C>A	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +2 more	GBenign
Select item 360203	NM_000168.6(GLI3):c.*835G>A	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +2 more	GBenign
Select item 360204	NM_000168.6(GLI3):c.*741A>G	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +2 more	GBenign
Select item 360205	NM_000168.6(GLI3):c.*726A>G	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +2 more	GBenign
Select item 360206	NM_000168.6(GLI3):c.*655A>G	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +2 more	GBenign
Select item 910522	NM_000168.6(GLI3):c.*603A>G	GLI3	Single nucleotide variant (3 prime UTR variant)	Pallister-Hall syndrome +2 more	GBenign
Select item 360207	NM_000168.6(GLI3):c.*589T>C	GLI3	Single nucleotide variant (3 prime UTR variant)	Greig cephalopolysyndactyly syndrome +2 more	GUncertain significance
Select item 360208	NM_000168.6(GLI3):c.*512C>T	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +2 more	GUncertain significance
Select item 360209	NM_000168.6(GLI3):c.*428C>T	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +2 more	GBenign
Select item 908799	NM_000168.6(GLI3):c.*386A>G	GLI3	Single nucleotide variant (3 prime UTR variant)	Greig cephalopolysyndactyly syndrome +1 more	GUncertain significance
Select item 908800	NM_000168.6(GLI3):c.*333A>G	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +1 more	GUncertain significance
Select item 908801	NM_000168.6(GLI3):c.*332T>C	GLI3	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 908802	NM_000168.6(GLI3):c.*311T>A	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +1 more	GUncertain significance
Select item 360210	NM_000168.6(GLI3):c.266_267insA	GLI3	Insertion (3 prime UTR variant)	Pallister-Hall syndrome +2 more	GUncertain significance
Select item 360211	NM_000168.6(GLI3):c.*265dup	GLI3	Duplication (3 prime UTR variant)	Pallister-Hall syndrome +3 more	GBenign
Select item 1212212	NM_000168.6(GLI3):c.*265del	GLI3	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 360212	NM_000168.6(GLI3):c.*265A>C	GLI3	Single nucleotide variant (3 prime UTR variant)	Greig cephalopolysyndactyly syndrome +3 more	GConflicting classifications of pathogenicity
Select item 360214	NM_000168.6(GLI3):c.*248dup	GLI3	Duplication (3 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 360213	NM_000168.6(GLI3):c.*249A>T	GLI3	Single nucleotide variant (3 prime UTR variant)	Greig cephalopolysyndactyly syndrome +3 more	GBenign
Select item 909650	NM_000168.6(GLI3):c.*248T>A	GLI3	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 360215	NM_000168.6(GLI3):c.*248del	GLI3	Deletion (3 prime UTR variant)	Polydactyly +3 more	GUncertain significance
Select item 360216	NM_000168.6(GLI3):c.*185G>A	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +2 more	GConflicting classifications of pathogenicity
Select item 360217	NM_000168.6(GLI3):c.*165A>G	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +2 more	GUncertain significance
Select item 360218	NM_000168.6(GLI3):c.*136T>A	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +2 more	GBenign
Select item 910584	NM_000168.6(GLI3):c.*73C>T	GLI3	Single nucleotide variant (3 prime UTR variant)	Greig cephalopolysyndactyly syndrome +1 more	GUncertain significance

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