ClinVar for Gene (Select 2735) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3058711	NM_005269.3(GLI1):c.267G>A (p.Ser89=)	GLI1	Single nucleotide variant (5 prime UTR variant +1 more)	GLI1-related condition	GLikely benign
Select item 3058464	NM_005269.3(GLI1):c.3138G>A (p.Gln1046=)	GLI1	Single nucleotide variant (synonymous variant)	GLI1-related condition	GLikely benign
Select item 3058279	NM_005269.3(GLI1):c.945C>T (p.Leu315=)	GLI1	Single nucleotide variant (synonymous variant)	GLI1-related condition	GLikely benign
Select item 3056654	NM_005269.3(GLI1):c.1086T>C (p.Tyr362=)	GLI1	Single nucleotide variant (synonymous variant)	GLI1-related condition	GBenign
Select item 3056398	NM_005269.3(GLI1):c.786C>T (p.His262=)	GLI1	Single nucleotide variant (synonymous variant)	GLI1-related condition	GBenign
Select item 3046842	NM_005269.3(GLI1):c.1137G>T (p.Leu379=)	GLI1	Single nucleotide variant (synonymous variant)	GLI1-related condition	GLikely benign
Select item 3043937	NM_005269.3(GLI1):c.144C>T (p.Ser48=)	GLI1	Single nucleotide variant (synonymous variant +1 more)	GLI1-related condition	GLikely benign
Select item 3041491	NM_005269.3(GLI1):c.1134G>A (p.Ser378=)	GLI1	Single nucleotide variant (synonymous variant)	GLI1-related condition	GLikely benign
Select item 3035190	NM_005269.3(GLI1):c.1689T>C (p.Ser563=)	GLI1	Single nucleotide variant (synonymous variant)	GLI1-related condition	GLikely benign
Select item 3026491	NM_005269.3(GLI1):c.1361del (p.Pro454fs)	GLI1 (P326fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2691566	NM_005269.3(GLI1):c.2008G>T (p.Ala670Ser)	GLI1 (A542S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643135	NM_005269.3(GLI1):c.1995C>G (p.Thr665=)	GLI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643134	NM_005269.3(GLI1):c.1798G>T (p.Gly600Cys)	GLI1 (G472C +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2643133	NM_005269.3(GLI1):c.1509G>C (p.Leu503=)	GLI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2634349	NM_005269.3(GLI1):c.1078-1G>C	GLI1	Single nucleotide variant (splice acceptor variant)	GLI1-related condition	GLikely pathogenic
Select item 2633545	NM_005269.3(GLI1):c.713G>T (p.Arg238Leu)	GLI1 (R110L +2 more)	Single nucleotide variant (missense variant)	GLI1-related condition	GUncertain significance
Select item 2623150	NM_005269.3(GLI1):c.1204C>T (p.Pro402Ser)	GLI1 (P402S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619596	NM_005269.3(GLI1):c.2899C>T (p.Pro967Ser)	GLI1 (P926S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2577052	NM_005269.3(GLI1):c.1077+20G>A	GLI1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2560113	NM_005269.3(GLI1):c.2692G>C (p.Val898Leu)	GLI1 (V857L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551040	NM_005269.3(GLI1):c.439C>G (p.Pro147Ala)	GLI1 (P19A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550537	NM_005269.3(GLI1):c.1735C>A (p.Pro579Thr)	GLI1 (P579T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542675	NM_005269.3(GLI1):c.1524A>C (p.Gln508His)	GLI1 (Q380H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542076	NM_005269.3(GLI1):c.458C>T (p.Pro153Leu)	GLI1 (P25L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530861	NM_005269.3(GLI1):c.1610T>C (p.Val537Ala)	GLI1 (V409A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526466	NM_005269.3(GLI1):c.566A>C (p.Lys189Thr)	GLI1 (K148T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2502681	NM_005269.3(GLI1):c.1603C>T (p.Pro535Ser)	GLI1 (P407S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2498574	GRCh37/hg19 12q13.3-14.1(chr12:57064059-59314016)x1	AGAP2, ARHGAP9 +45 more	Copy number loss	not provided	GLikely pathogenic
Select item 2488455	NM_005269.3(GLI1):c.680G>A (p.Arg227His)	GLI1 (R227H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466056	NM_005269.3(GLI1):c.1082C>T (p.Pro361Leu)	GLI1 (P320L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2440510	NM_005269.3(GLI1):c.821dup (p.Cys275fs)	GLI1 (C147fs +2 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2429115	NM_005269.3(GLI1):c.816G>T (p.Trp272Cys)	GLI1 (W144C +2 more)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A8 +1 more	GConflicting classifications of pathogenicity
Select item 2422308	NC_000012.11:g.(?_57534470)_(58190366_?)dup	AGAP2, ARHGAP9 +27 more	Duplication	Familial melanoma	GUncertain significance
Select item 2405713	NM_005269.3(GLI1):c.460T>C (p.Cys154Arg)	GLI1 (C113R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400999	NM_005269.3(GLI1):c.1984T>A (p.Cys662Ser)	GLI1 (C621S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350046	NM_005269.3(GLI1):c.3229C>T (p.Pro1077Ser)	GLI1 (P949S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338234	NM_005269.3(GLI1):c.1543C>T (p.Arg515Trp)	GLI1 (R474W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326095	NM_005269.3(GLI1):c.817G>C (p.Gly273Arg)	GLI1 (G273R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316701	NM_005269.3(GLI1):c.1056G>T (p.Gln352His)	GLI1 (Q224H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311849	NM_005269.3(GLI1):c.659A>G (p.Asp220Gly)	GLI1 (D179G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308533	NM_005269.3(GLI1):c.2279A>G (p.Asn760Ser)	GLI1 (N632S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296862	NM_005269.3(GLI1):c.1486C>T (p.Arg496Cys)	GLI1 (R368C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294885	NM_005269.3(GLI1):c.1006G>C (p.Glu336Gln)	GLI1 (E295Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293531	NM_005269.3(GLI1):c.1658A>G (p.Tyr553Cys)	GLI1 (Y553C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280470	NM_005269.3(GLI1):c.1291G>A (p.Val431Met)	GLI1 (V303M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268243	NM_005269.3(GLI1):c.1103G>A (p.Gly368Asp)	GLI1 (G240D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246803	NM_005269.3(GLI1):c.1673G>C (p.Arg558Pro)	GLI1 (R430P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237805	NM_005269.3(GLI1):c.1535T>C (p.Ile512Thr)	GLI1 (I471T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225945	NM_005269.3(GLI1):c.1853C>T (p.Pro618Leu)	GLI1 (P490L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222824	NM_005269.3(GLI1):c.2524C>T (p.Pro842Ser)	GLI1 (P842S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220134	NM_005269.3(GLI1):c.176C>T (p.Thr59Ile)	GLI1 (T59I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2216053	NM_005269.3(GLI1):c.673G>A (p.Glu225Lys)	GLI1 (E225K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214176	NM_005269.3(GLI1):c.1577G>T (p.Gly526Val)	GLI1 (G485V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212831	NM_005269.3(GLI1):c.1171G>A (p.Ala391Thr)	GLI1 (A263T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210794	NM_005269.3(GLI1):c.2688G>T (p.Gln896His)	GLI1 (Q768H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209004	NM_005269.3(GLI1):c.1699C>A (p.Pro567Thr)	GLI1 (P439T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1810605	NM_005269.3(GLI1):c.534G>A (p.Gln178=)	GLI1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1808720	GRCh37/hg19 12q13.3-14.1(chr12:57631073-58236597)x1	AGAP2, ARHGAP9 +27 more	Copy number loss	not provided	GLikely pathogenic
Select item 1806670	NM_005269.3(GLI1):c.3119_3120del (p.Leu1040fs)	GLI1 (L1040fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1709702	NM_005269.3(GLI1):c.877C>T (p.Arg293Cys)	GLI1 (R165C +2 more)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A8	GUncertain significance
Select item 1677303	NM_005269.3(GLI1):c.3301T>C (p.Phe1101Leu)	GLI1 (F1060L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1298547	NM_005269.3(GLI1):c.1557G>C (p.Leu519=)	GLI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1285295	NM_005269.3(GLI1):c.3298G>C (p.Glu1100Gln)	GLI1 (E1059Q +2 more)	Single nucleotide variant (missense variant)	Preaxial hand polydactyly +1 more	GBenign
Select item 1277191	NM_005269.3(GLI1):c.576G>A (p.Glu192=)	GLI1	Single nucleotide variant (synonymous variant)	Polydactyly, postaxial, type A8 +3 more	GBenign
Select item 1240928	NM_005269.3(GLI1):c.2798G>A (p.Gly933Asp)	GLI1 (G805D +2 more)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A8 +3 more	GBenign
Select item 1050459	NM_005269.3(GLI1):c.1921G>T (p.Asp641Tyr)	GLI1 (D513Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1032306	NM_005269.3(GLI1):c.3065del (p.Gly1022fs)	GLI1 (G981fs +2 more)	Deletion (frameshift variant)	Polydactyly, postaxial, type A8	GUncertain significance
Select item 982420	NM_005269.3(GLI1):c.985A>T (p.Lys329Ter)	GLI1 (K201* +2 more)	Single nucleotide variant (nonsense)	Polydactyly, postaxial, type A8	GLikely pathogenic
Select item 929772	NM_005269.3(GLI1):c.2227T>C (p.Tyr743His)	GLI1 (Y615H +2 more)	Single nucleotide variant (missense variant)	Premature ovarian failure	GUncertain significance
Select item 918147	NM_005269.3(GLI1):c.1796del (p.Gly599fs)	GLI1 (G471fs +2 more)	Deletion (frameshift variant)	not specified	GLikely pathogenic
Select item 815529	GRCh37/hg19 12q13.3-14.1(chr12:57582163-59031979)x1	AGAP2, ARHGAP9 +31 more	Copy number loss	not provided	GLikely pathogenic
Select item 815528	GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3	AGAP2, ANKRD52 +105 more	Copy number gain	not provided	GPathogenic
Select item 799477	NM_005269.3(GLI1):c.1485T>C (p.Leu495=)	GLI1	Single nucleotide variant (synonymous variant)	GLI1-related condition +1 more	GLikely benign
Select item 798891	NM_005269.3(GLI1):c.1530G>A (p.Arg510=)	GLI1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 790865	NM_005269.3(GLI1):c.314C>A (p.Ser105Tyr)	GLI1 (S105Y +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	GLI1-related condition +1 more	GLikely benign
Select item 790119	NM_005269.3(GLI1):c.2136C>T (p.Ser712=)	GLI1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 790118	NM_005269.3(GLI1):c.1560C>T (p.Pro520=)	GLI1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 790117	NM_005269.3(GLI1):c.1214G>A (p.Arg405Gln)	GLI1 (R364Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 779527	NM_005269.3(GLI1):c.3318C>T (p.Ala1106=)	GLI1	Single nucleotide variant (synonymous variant)	GLI1-related condition +1 more	GBenign
Select item 779352	NM_005269.3(GLI1):c.1528C>T (p.Arg510Trp)	GLI1 (R382W +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 773833	NM_005269.3(GLI1):c.3035G>T (p.Gly1012Val)	GLI1 (G884V +2 more)	Single nucleotide variant (missense variant)	GLI1-related condition +1 more	GBenign
Select item 754733	NM_005269.3(GLI1):c.3202C>T (p.Arg1068Trp)	GLI1 (R1027W +2 more)	Single nucleotide variant (missense variant)	GLI1-related condition +1 more	GLikely benign
Select item 753306	NM_005269.3(GLI1):c.1818A>G (p.Ala606=)	GLI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 730133	NM_005269.3(GLI1):c.503C>G (p.Pro168Arg)	GLI1 (P40R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 726113	NM_005269.3(GLI1):c.678G>A (p.Lys226=)	GLI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 725547	NM_005269.3(GLI1):c.291G>A (p.Thr97=)	GLI1	Single nucleotide variant (5 prime UTR variant +1 more)	GLI1-related condition +1 more	GBenign/Likely benign
Select item 715808	NM_005269.3(GLI1):c.363C>T (p.Tyr121=)	GLI1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 626906	NM_005269.3(GLI1):c.1517T>A (p.Leu506Gln)	GLI1 (L506Q +2 more)	Single nucleotide variant (missense variant)	Preaxial hand polydactyly	GUncertain significance
Select item 561215	NM_005269.3(GLI1):c.337C>T (p.Arg113Ter)	GLI1 (R113* +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Polydactyly, postaxial, type A8	GPathogenic
Select item 561214	NM_005269.3(GLI1):c.1930C>T (p.Gln644Ter)	GLI1 (Q644* +2 more)	Single nucleotide variant (nonsense)	Polydactyly, postaxial, type A8	GPathogenic
Select item 561213	NM_005269.3(GLI1):c.2340G>A (p.Trp780Ter)	GLI1 (W780* +2 more)	Single nucleotide variant (nonsense)	Polydactyly, postaxial, type A8	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 430658	NM_005269.3(GLI1):c.820G>C (p.Gly274Arg)	GLI1 (G274R +2 more)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 161547	NM_005269.3(GLI1):c.530G>A (p.Cys177Tyr)	GLI1 (C136Y +2 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 59020	GRCh38/hg38 12q13.3-14.1(chr12:57041158-60273934)x1	AGAP2, AGAP2-AS1 +162 more	Copy number loss	See cases	GPathogenic

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