"Invitae"[submitter] AND "GLI2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2112984	NM_001374353.1(GLI2):c.9dup (p.Ser4fs)	GLI2 (S4fs)	Duplication (frameshift variant +1 more)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GPathogenic
Select item 1354011	NM_001374353.1(GLI2):c.8C>T (p.Thr3Met)	GLI2 (T3M)	Single nucleotide variant (5 prime UTR variant +1 more)	Holoprosencephaly 9 +2 more	GUncertain significance
Select item 697438	NM_001374353.1(GLI2):c.9G>A (p.Thr3=)	GLI2	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 9 +1 more	GLikely benign
Select item 750770	NM_001374353.1(GLI2):c.30C>T (p.Ser10=)	GLI2	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 9 +1 more	GLikely benign
Select item 1371947	NM_001374353.1(GLI2):c.49del (p.Ser17fs)	GLI2 (S17fs)	Deletion (frameshift variant +1 more)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GPathogenic
Select item 982786	NM_001374353.1(GLI2):c.58C>G (p.Leu20Val)	GLI2 (L20V)	Single nucleotide variant (missense variant +1 more)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GUncertain significance
Select item 1926748	NM_001374353.1(GLI2):c.66C>T (p.Ala22=)	GLI2	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 9 +1 more	GBenign
Select item 2932251	NM_001374353.1(GLI2):c.75C>T (p.Phe25=)	GLI2	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 9 +1 more	GLikely benign
Select item 706011	NM_001374353.1(GLI2):c.78C>T (p.Pro26=)	GLI2	Single nucleotide variant (synonymous variant +1 more)	GLI2-related condition +2 more	GLikely benign
Select item 1938117	NM_001374353.1(GLI2):c.83C>A (p.Pro28Gln)	GLI2 (P28Q)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 9 +1 more	GUncertain significance
Select item 2950296	NM_001374353.1(GLI2):c.109G>A (p.Val37Met)	GLI2 (V37M)	Single nucleotide variant (missense variant +1 more)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GUncertain significance
Select item 1379957	NM_001374353.1(GLI2):c.118G>A (p.Ala40Thr)	GLI2 (A40T)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 9 +1 more	GUncertain significance
Select item 1621508	NM_001374353.1(GLI2):c.120G>A (p.Ala40=)	GLI2	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 9 +2 more	GLikely benign
Select item 755125	NM_001374353.1(GLI2):c.123A>G (p.Ala41=)	GLI2	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 9 +1 more	GLikely benign
Select item 705917	NM_001374353.1(GLI2):c.129A>C (p.Ala43=)	GLI2	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 9 +1 more	GBenign
Select item 893358	NM_001374353.1(GLI2):c.131C>T (p.Ala44Val)	GLI2 (A44V)	Single nucleotide variant (missense variant +1 more)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +2 more	GBenign/Likely benign
Select item 193310	NM_001374353.1(GLI2):c.132G>A (p.Ala44=)	GLI2	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 9 +2 more	GConflicting classifications of pathogenicity
Select item 2202384	NM_001374353.1(GLI2):c.140C>T (p.Ala47Val)	GLI2 (A47V)	Single nucleotide variant (missense variant +1 more)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GUncertain significance
Select item 330962	NM_001374353.1(GLI2):c.148+5T>C	GLI2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1576344	NM_001374353.1(GLI2):c.148+12T>A	GLI2	Single nucleotide variant (intron variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GLikely benign
Select item 259713	NM_001374353.1(GLI2):c.148+14C>T	GLI2	Single nucleotide variant (intron variant)	Holoprosencephaly 9 +2 more	GBenign/Likely benign
Select item 2946633	NM_001374353.1(GLI2):c.148+20C>T	GLI2	Single nucleotide variant (intron variant)	Holoprosencephaly 9 +1 more	GLikely benign
Select item 2947133	NM_001374353.1(GLI2):c.149-877_238del	GLI2	Deletion (intron variant +1 more)	Holoprosencephaly 9 +1 more	GLikely pathogenic
Select item 1418872	NM_001374353.1(GLI2):c.176A>G (p.His59Arg)	GLI2 (H59R)	Single nucleotide variant (missense variant +1 more)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GUncertain significance
Select item 1677414	NM_001374353.1(GLI2):c.189G>A (p.Pro63=)	GLI2	Single nucleotide variant (synonymous variant +1 more)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +2 more	GConflicting classifications of pathogenicity
Select item 573009	NM_001374353.1(GLI2):c.192dup (p.Asp65Ter)	GLI2 (D65*)	Duplication (nonsense +1 more)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GPathogenic
Select item 2952573	NM_001374353.1(GLI2):c.195C>G (p.Asp65Glu)	GLI2 (D65E)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 9 +1 more	GUncertain significance
Select item 799111	NM_001374353.1(GLI2):c.219C>T (p.Tyr73=)	GLI2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 195240	NM_001374353.1(GLI2):c.221A>G (p.His74Arg)	GLI2 (H74R)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 9 +2 more	GUncertain significance
Select item 703189	NM_001374353.1(GLI2):c.243C>T (p.His81=)	GLI2	Single nucleotide variant (synonymous variant +1 more)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GLikely benign
Select item 330965	NM_001374353.1(GLI2):c.244G>A (p.Gly82Ser)	GLI2 (G82S)	Single nucleotide variant (missense variant +1 more)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GUncertain significance
Select item 2399119	NM_001374353.1(GLI2):c.248T>C (p.Val83Ala)	GLI2 (V83A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 330966	NM_001374353.1(GLI2):c.252C>T (p.His84=)	GLI2	Single nucleotide variant (synonymous variant +1 more)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GLikely benign
Select item 1608321	NM_001374353.1(GLI2):c.255-17G>T	GLI2	Single nucleotide variant (intron variant)	Holoprosencephaly 9 +1 more	GBenign
Select item 1488479	NM_001374353.1(GLI2):c.257C>T (p.Pro86Leu)	GLI2 (P86L)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 9 +1 more	GUncertain significance
Select item 2942127	NM_001374353.1(GLI2):c.258C>T (p.Pro86=)	GLI2	Single nucleotide variant (synonymous variant +1 more)	GLI2-related condition +2 more	GLikely benign
Select item 2050196	NM_001374353.1(GLI2):c.271G>A (p.Gly91Ser)	GLI2 (G91S)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 9 +1 more	GUncertain significance
Select item 1900533	NM_001374353.1(GLI2):c.285C>G (p.Ile95Met)	GLI2 (I95M)	Single nucleotide variant (missense variant +1 more)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GUncertain significance
Select item 702846	NM_001374353.1(GLI2):c.291C>T (p.Asp97=)	GLI2	Single nucleotide variant (synonymous variant +1 more)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +2 more	GBenign
Select item 2924938	NM_001374353.1(GLI2):c.292A>G (p.Ile98Val)	GLI2 (I98V)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 9 +1 more	GUncertain significance
Select item 2937560	NM_001374353.1(GLI2):c.294C>G (p.Ile98Met)	GLI2 (I98M)	Single nucleotide variant (missense variant +1 more)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GUncertain significance
Select item 2924654	NM_001374353.1(GLI2):c.304C>T (p.Arg102Trp)	GLI2 (R102W)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 9 +1 more	GUncertain significance
Select item 444517	NM_001374353.1(GLI2):c.305G>A (p.Arg102Gln)	GLI2 (R102Q)	Single nucleotide variant (missense variant +1 more)	GLI2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 598536	NM_001374353.1(GLI2):c.315G>A (p.Pro105=)	GLI2	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2938053	NM_001374353.1(GLI2):c.317A>G (p.His106Arg)	GLI2 (H106R)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 9 +1 more	GUncertain significance
Select item 1372746	NM_001374353.1(GLI2):c.320C>T (p.Pro107Leu)	GLI2 (P107L)	Single nucleotide variant (missense variant +1 more)	GLI2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 703617	NM_001374353.1(GLI2):c.321G>A (p.Pro107=)	GLI2	Single nucleotide variant (synonymous variant +1 more)	GLI2-related condition +2 more	GBenign
Select item 520904	NM_001374353.1(GLI2):c.322del (p.Ala108fs)	GLI2 (A108fs)	Deletion (frameshift variant +1 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 2923677	NM_001374353.1(GLI2):c.364G>T (p.Val122Leu)	GLI2 (V122L)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 9 +1 more	GUncertain significance
Select item 1447382	NM_001374353.1(GLI2):c.392G>A (p.Arg131His)	GLI2 (R131H +1 more)	Single nucleotide variant (missense variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GUncertain significance
Select item 1554769	NM_001374353.1(GLI2):c.402C>T (p.His134=)	GLI2	Single nucleotide variant (synonymous variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GLikely benign
Select item 1385820	NM_001374353.1(GLI2):c.449C>T (p.Pro150Leu)	GLI2 (P25L +1 more)	Single nucleotide variant (missense variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GUncertain significance
Select item 593004	NM_001374353.1(GLI2):c.451G>A (p.Ala151Thr)	GLI2 (A151T +1 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +2 more	GUncertain significance
Select item 541904	NM_001374353.1(GLI2):c.451G>C (p.Ala151Pro)	GLI2 (A151P +1 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +1 more	GUncertain significance
Select item 2935482	NM_001374353.1(GLI2):c.493G>T (p.Gly165Cys)	GLI2 (G40C +1 more)	Single nucleotide variant (missense variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GUncertain significance
Select item 1610186	NM_001374353.1(GLI2):c.495C>T (p.Gly165=)	GLI2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 9 +1 more	GLikely benign
Select item 1715928	NM_001374353.1(GLI2):c.508G>C (p.Gly170Arg)	GLI2 (G170R +1 more)	Single nucleotide variant (missense variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GUncertain significance
Select item 1048857	NM_001374353.1(GLI2):c.515C>A (p.Thr172Asn)	GLI2 (T172N +1 more)	Single nucleotide variant (missense variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GUncertain significance
Select item 1384529	NM_001374353.1(GLI2):c.538A>C (p.Met180Leu)	GLI2 (M180L +1 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +1 more	GUncertain significance
Select item 2944311	NM_001374353.1(GLI2):c.539T>G (p.Met180Arg)	GLI2 (M55R +1 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +1 more	GUncertain significance
Select item 705812	NM_001374353.1(GLI2):c.546C>T (p.Leu182=)	GLI2	Single nucleotide variant (synonymous variant)	GLI2-related condition +2 more	GBenign/Likely benign
Select item 2923977	NM_001374353.1(GLI2):c.547G>A (p.Val183Met)	GLI2 (V183M +1 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +1 more	GUncertain significance
Select item 2929582	NM_001374353.1(GLI2):c.562G>A (p.Ala188Thr)	GLI2 (A188T +1 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +1 more	GUncertain significance
Select item 1573453	NM_001374353.1(GLI2):c.563C>T (p.Ala188Val)	GLI2 (A188V +1 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +1 more	GLikely benign
Select item 2923459	NM_001374353.1(GLI2):c.564G>A (p.Ala188=)	GLI2	Single nucleotide variant (synonymous variant)	GLI2-related condition +2 more	GLikely benign
Select item 330967	NM_001374353.1(GLI2):c.595G>A (p.Gly199Ser)	GLI2 (G199S +1 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +2 more	GBenign/Likely benign
Select item 1639759	NM_001374353.1(GLI2):c.598G>A (p.Ala200Thr)	GLI2 (A200T +1 more)	Single nucleotide variant (missense variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +3 more	GLikely benign
Select item 597599	NM_001374353.1(GLI2):c.606C>T (p.Ser202=)	GLI2	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 282300	NM_001374353.1(GLI2):c.607G>A (p.Ala203Thr)	GLI2 (A203T +1 more)	Single nucleotide variant (missense variant)	GLI2-related condition +4 more	GConflicting classifications of pathogenicity
Select item 2927584	NM_001374353.1(GLI2):c.621C>T (p.His207=)	GLI2	Single nucleotide variant (synonymous variant)	GLI2-related condition +2 more	GLikely benign
Select item 703129	NM_001374353.1(GLI2):c.637G>A (p.Val213Met)	GLI2 (V88M +1 more)	Single nucleotide variant (missense variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GLikely benign
Select item 1606596	NM_001374353.1(GLI2):c.643+15_643+16delinsTG	GLI2	Indel (intron variant)	Holoprosencephaly 9 +1 more	GLikely benign
Select item 2053167	NM_001374353.1(GLI2):c.643+16C>A	GLI2	Single nucleotide variant (intron variant)	Holoprosencephaly 9 +1 more	GLikely benign
Select item 259731	NM_001374353.1(GLI2):c.643+16C>G	GLI2	Single nucleotide variant (intron variant)	Holoprosencephaly 9 +3 more	GBenign
Select item 2130337	NM_001374353.1(GLI2):c.644-11C>T	GLI2	Single nucleotide variant (intron variant)	Holoprosencephaly 9 +1 more	GLikely benign
Select item 1968820	NM_001374353.1(GLI2):c.649C>T (p.Arg217Cys)	GLI2 (R217C +1 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +1 more	GUncertain significance
Select item 2927013	NM_001374353.1(GLI2):c.654C>T (p.Phe218=)	GLI2	Single nucleotide variant (synonymous variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GLikely benign
Select item 894600	NM_001374353.1(GLI2):c.671C>T (p.Thr224Met)	GLI2 (T224M +1 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +1 more	GUncertain significance
Select item 710564	NM_001374353.1(GLI2):c.672G>A (p.Thr224=)	GLI2	Single nucleotide variant (synonymous variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GLikely benign
Select item 665586	NM_001374353.1(GLI2):c.677G>A (p.Arg226His)	GLI2 (R226H +1 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +2 more	GUncertain significance
Select item 2129415	NM_001374353.1(GLI2):c.693G>A (p.Arg231=)	GLI2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 9 +1 more	GLikely benign
Select item 565646	NM_001374353.1(GLI2):c.713T>C (p.Leu238Pro)	GLI2 (L238P +1 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +1 more	GUncertain significance
Select item 259735	NM_001374353.1(GLI2):c.720C>T (p.Asp240=)	GLI2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 2391336	NM_001374353.1(GLI2):c.764C>T (p.Ser255Leu)	GLI2 (S130L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1022559	NM_001374353.1(GLI2):c.770T>C (p.Val257Ala)	GLI2 (V132A +1 more)	Single nucleotide variant (missense variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GUncertain significance
Select item 962182	NM_001374353.1(GLI2):c.789_826del (p.Arg264fs)	GLI2 (R264fs +1 more)	Deletion (frameshift variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GPathogenic
Select item 259736	NM_001374353.1(GLI2):c.801G>A (p.Ser267=)	GLI2	Single nucleotide variant (synonymous variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +3 more	GBenign
Select item 259737	NM_001374353.1(GLI2):c.803C>T (p.Ala268Val)	GLI2 (A268V +1 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +3 more	GBenign/Likely benign
Select item 2932563	NM_001374353.1(GLI2):c.804G>A (p.Ala268=)	GLI2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 9 +1 more	GLikely benign
Select item 1405470	NM_001374353.1(GLI2):c.811G>A (p.Gly271Ser)	GLI2 (G271S +1 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +2 more	GUncertain significance
Select item 736833	NM_001374353.1(GLI2):c.819C>T (p.Tyr273=)	GLI2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 9 +1 more	GLikely benign
Select item 1441582	NM_001374353.1(GLI2):c.841C>A (p.Leu281Ile)	GLI2 (L156I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 330968	NM_001374353.1(GLI2):c.845+10G>A	GLI2	Single nucleotide variant (intron variant)	Holoprosencephaly 9 +2 more	GLikely benign
Select item 1613659	NM_001374353.1(GLI2):c.845+14G>A	GLI2	Single nucleotide variant (intron variant)	Holoprosencephaly 9 +1 more	GLikely benign
Select item 1915060	NM_001374353.1(GLI2):c.845+17A>G	GLI2	Single nucleotide variant (intron variant)	Holoprosencephaly 9 +1 more	GLikely benign
Select item 1564864	NM_001374353.1(GLI2):c.846-18G>A	GLI2	Single nucleotide variant (intron variant)	Holoprosencephaly 9 +1 more	GLikely benign
Select item 1557400	NM_001374353.1(GLI2):c.861C>T (p.Phe287=)	GLI2	Single nucleotide variant (synonymous variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GLikely benign
Select item 2933496	NM_001374353.1(GLI2):c.862C>T (p.Pro288Ser)	GLI2 (P288S +1 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +1 more	GUncertain significance
Select item 593835	NM_001374353.1(GLI2):c.879C>T (p.Pro293=)	GLI2	Single nucleotide variant (synonymous variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1972675	NM_001374353.1(GLI2):c.908A>C (p.Gln303Pro)	GLI2 (Q178P +1 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +1 more	GUncertain significance

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