"Eurofins Ntd Llc (ga)"[submitter] AND "GLI2"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 193310	NM_001374353.1(GLI2):c.132G>A (p.Ala44=)	GLI2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 598007	NM_001374353.1(GLI2):c.196A>G (p.Met66Val)	GLI2 (M66V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 195240	NM_001374353.1(GLI2):c.221A>G (p.His74Arg)	GLI2 (H74R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 594283	NM_001374353.1(GLI2):c.314C>T (p.Pro105Leu)	GLI2 (P105L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 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 597599	NM_001374353.1(GLI2):c.606C>T (p.Ser202=)	GLI2	Single nucleotide variant (synonymous variant)	not provided +2 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)	Holoprosencephaly 9 +3 more	GConflicting classifications of pathogenicity
Select item 259735	NM_001374353.1(GLI2):c.720C>T (p.Asp240=)	GLI2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 497428	NM_001374353.1(GLI2):c.765G>A (p.Ser255=)	GLI2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 593835	NM_001374353.1(GLI2):c.879C>T (p.Pro293=)	GLI2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 9 +2 more	GConflicting classifications of pathogenicity
Select item 498082	NM_001374353.1(GLI2):c.1080G>A (p.Ser360=)	GLI2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 198528	NM_001374353.1(GLI2):c.1120C>T (p.Arg374Cys)	GLI2 (R374C +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 198529	NM_001374353.1(GLI2):c.1121G>A (p.Arg374His)	GLI2 (R374H +1 more)	Single nucleotide variant (missense variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +2 more	GUncertain significance
Select item 501060	NM_001374353.1(GLI2):c.1125C>T (p.Ser375=)	GLI2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 198817	NM_001374353.1(GLI2):c.1243G>A (p.Val415Met)	GLI2 (V432M +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 498545	NM_001374353.1(GLI2):c.1370G>A (p.Trp457Ter)	GLI2 (W474* +2 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 594354	NM_001374353.1(GLI2):c.1481C>T (p.Ser494Leu)	GLI2 (S511L +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +2 more	GConflicting classifications of pathogenicity
Select item 598659	NM_001374353.1(GLI2):c.1701T>C (p.His567=)	GLI2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 221952	NM_001374353.1(GLI2):c.1808C>T (p.Thr603Met)	GLI2 (T620M +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +5 more	GConflicting classifications of pathogenicity
Select item 501220	NM_001374353.1(GLI2):c.1875C>T (p.His625=)	GLI2	Single nucleotide variant (synonymous variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +2 more	GConflicting classifications of pathogenicity
Select item 194065	NM_001374353.1(GLI2):c.1935G>A (p.Ser645=)	GLI2	Single nucleotide variant (synonymous variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +3 more	GBenign/Likely benign
Select item 595143	NM_001374353.1(GLI2):c.2006C>T (p.Thr669Met)	GLI2 (T686M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 287567	NM_001374353.1(GLI2):c.2034G>A (p.Thr678=)	GLI2	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 259722	NM_001374353.1(GLI2):c.2037A>G (p.Ala679=)	GLI2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 9 +3 more	GBenign/Likely benign
Select item 287648	NM_001374353.1(GLI2):c.2075T>C (p.Leu692Pro)	GLI2 (L709P +2 more)	Single nucleotide variant (missense variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +2 more	GUncertain significance
Select item 290689	NM_001374353.1(GLI2):c.2089G>A (p.Ala697Thr)	GLI2 (A714T +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 285395	NM_001374353.1(GLI2):c.2136C>A (p.Phe712Leu)	GLI2 (F729L +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 596121	NM_001374353.1(GLI2):c.2208G>A (p.Thr736=)	GLI2	Single nucleotide variant (synonymous variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +2 more	GConflicting classifications of pathogenicity
Select item 194222	NM_001374353.1(GLI2):c.2251C>T (p.Leu751=)	GLI2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 289178	NM_001374353.1(GLI2):c.2415C>T (p.Arg805=)	GLI2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 282738	NM_001374353.1(GLI2):c.2503G>A (p.Ala835Thr)	GLI2 (A852T +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 285394	NM_001374353.1(GLI2):c.2657C>G (p.Thr886Ser)	GLI2 (T903S +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +3 more	GBenign/Likely benign
Select item 330981	NM_001374353.1(GLI2):c.2690G>A (p.Arg897Gln)	GLI2 (R914Q +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +3 more	GUncertain significance
Select item 597515	NM_001374353.1(GLI2):c.2748_2794del (p.Leu918fs)	GLI2 (L935fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 594976	NM_001374353.1(GLI2):c.2884C>T (p.Leu962=)	GLI2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 596158	NM_001374353.1(GLI2):c.2886G>A (p.Leu962=)	GLI2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 194228	NM_001374353.1(GLI2):c.2889C>T (p.Ser963=)	GLI2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 287231	NM_001374353.1(GLI2):c.2939C>G (p.Pro980Arg)	GLI2 (P997R +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +3 more	GConflicting classifications of pathogenicity
Select item 194227	NM_001374353.1(GLI2):c.2967C>T (p.Gly989=)	GLI2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 194220	NM_001374353.1(GLI2):c.2997C>T (p.Asp999=)	GLI2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 497694	NM_001374353.1(GLI2):c.3037A>G (p.Ser1013Gly)	GLI2 (S1030G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 501269	NM_001374353.1(GLI2):c.3066C>T (p.Ala1022=)	GLI2	Single nucleotide variant (synonymous variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +2 more	GConflicting classifications of pathogenicity
Select item 95270	NM_001374353.1(GLI2):c.3298G>T (p.Val1100Leu)	GLI2 (V1117L +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +3 more	GBenign/Likely benign
Select item 596576	NM_001374353.1(GLI2):c.3309C>T (p.Ser1103=)	GLI2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 9 +2 more	GLikely benign
Select item 95271	NM_001374353.1(GLI2):c.3415G>T (p.Ala1139Ser)	GLI2 (A1156S +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +3 more	GBenign
Select item 194224	NM_001374353.1(GLI2):c.3418C>T (p.Leu1140=)	GLI2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 9 +2 more	GConflicting classifications of pathogenicity
Select item 596159	NM_001374353.1(GLI2):c.3477G>T (p.Gln1159His)	GLI2 (Q1176H +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 194223	NM_001374353.1(GLI2):c.3539G>A (p.Gly1180Asp)	GLI2 (G1197D +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 194221	NM_001374353.1(GLI2):c.3784C>A (p.His1262Asn)	GLI2 (H1279N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 95272	NM_001374353.1(GLI2):c.3865G>A (p.Asp1289Asn)	GLI2 (D1306N +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +3 more	GBenign
Select item 95273	NM_001374353.1(GLI2):c.3888A>G (p.Pro1296=)	GLI2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 9 +3 more	GBenign
Select item 95274	NM_001374353.1(GLI2):c.3892C>T (p.Pro1298Ser)	GLI2 (P1315S +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 282213	NM_001374353.1(GLI2):c.3979C>T (p.Leu1327=)	GLI2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 9 +3 more	GBenign/Likely benign
Select item 194231	NM_001374353.1(GLI2):c.4003A>G (p.Met1335Val)	GLI2 (M1352V +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +3 more	GBenign/Likely benign
Select item 194226	NM_001374353.1(GLI2):c.4100G>A (p.Arg1367His)	GLI2 (R1384H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 475119	NM_001374353.1(GLI2):c.4147G>T (p.Gly1383Cys)	GLI2 (G1400C +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +2 more	GConflicting classifications of pathogenicity
Select item 499120	NM_001374353.1(GLI2):c.4241C>T (p.Pro1414Leu)	GLI2 (P1431L +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 194230	NM_001374353.1(GLI2):c.4281G>A (p.Met1427Ile)	GLI2 (M1444I +2 more)	Single nucleotide variant (missense variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +3 more	GBenign/Likely benign
Select item 194229	NM_001374353.1(GLI2):c.4282C>T (p.Leu1428Phe)	GLI2 (L1445F +2 more)	Single nucleotide variant (missense variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +3 more	GBenign/Likely benign
Select item 259729	NM_001374353.1(GLI2):c.4506C>T (p.Gly1502=)	GLI2	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 37084	NM_001374353.1(GLI2):c.4507G>A (p.Asp1503Asn)	GLI2 (D1520N +2 more)	Single nucleotide variant (missense variant)	Partial androgen insensitivity syndrome +4 more	GBenign/Likely benign
Select item 194225	NM_001374353.1(GLI2):c.4577G>A (p.Arg1526His)	GLI2 (R1543H +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +3 more	GBenign/Likely benign
Select item 37081	NM_001374353.1(GLI2):c.4612T>C (p.Ser1538Pro)	GLI2 (S1555P +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +3 more	GBenign/Likely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 64