"Ambry Genetics"[submitter] AND "GLI2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1354011	NM_001374353.1(GLI2):c.8C>T (p.Thr3Met)	GLI2 (T3M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3100184	NM_001374353.1(GLI2):c.47A>G (p.Lys16Arg)	GLI2 (K16R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1049892	NM_001374353.1(GLI2):c.67G>A (p.Ala23Thr)	GLI2 (A23T)	Single nucleotide variant (missense variant +1 more)	GLI2-related disorder +1 more	GUncertain significance
Select item 3100188	NM_001374353.1(GLI2):c.94G>T (p.Ala32Ser)	GLI2 (A32S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1711506	NM_001374353.1(GLI2):c.142C>T (p.Gln48Ter)	GLI2 (Q48*)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 330962	NM_001374353.1(GLI2):c.148+5T>C	GLI2	Single nucleotide variant (intron variant)	Holoprosencephaly 9 +3 more	GBenign/Likely benign
Select item 2218137	NM_001374353.1(GLI2):c.160C>G (p.Leu54Val)	GLI2 (L54V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 330964	NM_001374353.1(GLI2):c.220C>T (p.His74Tyr)	GLI2 (H74Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3100171	NM_001374353.1(GLI2):c.226G>A (p.Glu76Lys)	GLI2 (E76K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2399119	NM_001374353.1(GLI2):c.248T>C (p.Val83Ala)	GLI2 (V83A)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 9 +2 more	GUncertain significance
Select item 3100175	NM_001374353.1(GLI2):c.276C>A (p.Ser92Arg)	GLI2 (S92R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2294453	NM_001374353.1(GLI2):c.283A>G (p.Ile95Val)	GLI2 (I95V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 1372746	NM_001374353.1(GLI2):c.320C>T (p.Pro107Leu)	GLI2 (P107L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 520904	NM_001374353.1(GLI2):c.322del (p.Ala108fs)	GLI2 (A108fs)	Deletion (frameshift variant +1 more)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +3 more	GConflicting classifications of pathogenicity
Select item 3100178	NM_001374353.1(GLI2):c.328C>G (p.Pro110Ala)	GLI2 (P110A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2237123	NM_001374353.1(GLI2):c.355C>A (p.His119Asn)	GLI2 (H119N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 +2 more	GConflicting classifications of pathogenicity
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 +2 more	GConflicting classifications of pathogenicity
Select item 3100185	NM_001374353.1(GLI2):c.548T>C (p.Val183Ala)	GLI2 (V183A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 225098	NM_001374353.1(GLI2):c.562del (p.Ala188fs)	GLI2 (A188fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2318727	NM_001374353.1(GLI2):c.566C>T (p.Pro189Leu)	GLI2 (P64L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553427	NM_001374353.1(GLI2):c.596G>A (p.Gly199Asp)	GLI2 (G199D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554871	NM_001374353.1(GLI2):c.605G>C (p.Ser202Thr)	GLI2 (S202T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3281564	NM_001374353.1(GLI2):c.606C>A (p.Ser202Arg)	GLI2 (S77R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1968820	NM_001374353.1(GLI2):c.649C>T (p.Arg217Cys)	GLI2 (R217C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 373677	NM_001374353.1(GLI2):c.649C>G (p.Arg217Gly)	GLI2 (R217G +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2388699	NM_001374353.1(GLI2):c.739C>T (p.Arg247Trp)	GLI2 (R247W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3281562	NM_001374353.1(GLI2):c.746T>C (p.Ile249Thr)	GLI2 (I124T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391336	NM_001374353.1(GLI2):c.764C>T (p.Ser255Leu)	GLI2 (S130L +1 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +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)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3100186	NM_001374353.1(GLI2):c.785A>G (p.Asn262Ser)	GLI2 (N137S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1405470	NM_001374353.1(GLI2):c.811G>A (p.Gly271Ser)	GLI2 (G271S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2473564	NM_001374353.1(GLI2):c.814T>G (p.Ser272Ala)	GLI2 (S272A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2473565	NM_001374353.1(GLI2):c.817T>G (p.Tyr273Asp)	GLI2 (Y148D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2534050	NM_001374353.1(GLI2):c.838G>A (p.Ala280Thr)	GLI2 (A280T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2315376	NM_001374353.1(GLI2):c.941C>T (p.Pro314Leu)	GLI2 (P189L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100189	NM_001374353.1(GLI2):c.951C>G (p.Ile317Met)	GLI2 (I317M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387426	NM_001374353.1(GLI2):c.985A>G (p.Met329Val)	GLI2 (M204V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2478533	NM_001374353.1(GLI2):c.988G>A (p.Ala330Thr)	GLI2 (A205T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473482	NM_001374353.1(GLI2):c.1072A>C (p.Ser358Arg)	GLI2 (S358R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 892574	NM_001374353.1(GLI2):c.1106T>C (p.Val369Ala)	GLI2 (V244A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2269301	NM_001374353.1(GLI2):c.1117A>C (p.Lys373Gln)	GLI2 (K248Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2230784	NM_001374353.1(GLI2):c.1136C>A (p.Thr379Asn)	GLI2 (T379N +1 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +2 more	GUncertain significance
Select item 977369	NM_001374353.1(GLI2):c.1183-33G>A	GLI2 (G401S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2228764	NM_001374353.1(GLI2):c.1187A>C (p.Gln396Pro)	GLI2 (Q396P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232454	NM_001374353.1(GLI2):c.1288G>C (p.Glu430Gln)	GLI2 (E305Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2188170	NM_001374353.1(GLI2):c.1466C>T (p.Thr489Met)	GLI2 (T364M +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +3 more	GUncertain significance
Select item 2937280	NM_001374353.1(GLI2):c.1471G>A (p.Glu491Lys)	GLI2 (E508K +2 more)	Single nucleotide variant (missense variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +2 more	GLikely benign
Select item 1476894	NM_001374353.1(GLI2):c.1486G>T (p.Ala496Ser)	GLI2 (A371S +2 more)	Single nucleotide variant (missense variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +2 more	GUncertain significance
Select item 2485771	NM_001374353.1(GLI2):c.1517A>G (p.His506Arg)	GLI2 (H523R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100168	NM_001374353.1(GLI2):c.1562A>C (p.Glu521Ala)	GLI2 (E521A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521735	NM_001374353.1(GLI2):c.1592C>T (p.Ser531Leu)	GLI2 (S548L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 520933	NM_001374353.1(GLI2):c.1597dup (p.Arg533fs)	GLI2 (R533fs +2 more)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2610716	NM_001374353.1(GLI2):c.1693C>T (p.Arg565Trp)	GLI2 (R582W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265770	NM_001374353.1(GLI2):c.1718del (p.Gly573fs)	GLI2 (G590fs +2 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2228471	NM_001374353.1(GLI2):c.1748G>T (p.Arg583Leu)	GLI2 (R583L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367342	NM_001374353.1(GLI2):c.1766G>A (p.Arg589His)	GLI2 (R606H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3281560	NM_001374353.1(GLI2):c.1772C>A (p.Pro591Gln)	GLI2 (P608Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 779732	NM_001374353.1(GLI2):c.1857C>T (p.Ala619=)	GLI2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3281563	NM_001374353.1(GLI2):c.1876G>A (p.Val626Ile)	GLI2 (V626I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1391365	NM_001374353.1(GLI2):c.1942A>G (p.Ser648Gly)	GLI2 (S665G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2259003	NM_001374353.1(GLI2):c.1975A>T (p.Asn659Tyr)	GLI2 (N659Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100170	NM_001374353.1(GLI2):c.2053C>G (p.Pro685Ala)	GLI2 (P685A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 520576	NM_001374353.1(GLI2):c.2066C>T (p.Thr689Ile)	GLI2 (T706I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 259723	NM_001374353.1(GLI2):c.2108G>A (p.Arg703His)	GLI2 (R720H +2 more)	Single nucleotide variant (missense variant)	not specified +5 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 2599639	NM_001374353.1(GLI2):c.2137G>A (p.Glu713Lys)	GLI2 (E730K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2570006	NM_001374353.1(GLI2):c.2195C>A (p.Pro732Gln)	GLI2 (P607Q +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1512739	NM_001374353.1(GLI2):c.2210G>C (p.Arg737Pro)	GLI2 (R612P +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +2 more	GUncertain significance
Select item 2432144	NM_001374353.1(GLI2):c.2252T>C (p.Leu751Pro)	GLI2 (L626P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 330978	NM_001374353.1(GLI2):c.2267G>A (p.Gly756Asp)	GLI2 (G773D +2 more)	Single nucleotide variant (missense variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +2 more	GUncertain significance
Select item 2237874	NM_001374353.1(GLI2):c.2278G>A (p.Gly760Ser)	GLI2 (G760S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313424	NM_001374353.1(GLI2):c.2380A>G (p.Ser794Gly)	GLI2 (S669G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100172	NM_001374353.1(GLI2):c.2393C>T (p.Ser798Leu)	GLI2 (S673L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100173	NM_001374353.1(GLI2):c.2411G>A (p.Arg804His)	GLI2 (R679H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100174	NM_001374353.1(GLI2):c.2414G>A (p.Arg805His)	GLI2 (R680H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2948036	NM_001374353.1(GLI2):c.2589C>A (p.Asn863Lys)	GLI2 (N863K +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +2 more	GLikely benign
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 1490744	NM_001374353.1(GLI2):c.2669G>A (p.Gly890Asp)	GLI2 (G907D +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +3 more	GUncertain significance
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 2296695	NM_001374353.1(GLI2):c.2702C>T (p.Ala901Val)	GLI2 (A918V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2232950	NM_001374353.1(GLI2):c.2723G>A (p.Arg908His)	GLI2 (R783H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228504	NM_001374353.1(GLI2):c.2734G>T (p.Ala912Ser)	GLI2 (A787S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 798254	NM_001374353.1(GLI2):c.2804G>C (p.Gly935Ala)	GLI2 (G935A +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GLikely benign
Select item 2230852	NM_001374353.1(GLI2):c.2827G>A (p.Glu943Lys)	GLI2 (E818K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1089486	NM_001374353.1(GLI2):c.2855C>G (p.Ala952Gly)	GLI2 (A827G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 3281558	NM_001374353.1(GLI2):c.2870G>C (p.Arg957Pro)	GLI2 (R832P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225827	NM_001374353.1(GLI2):c.2872C>T (p.Arg958Trp)	GLI2 (R833W +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +2 more	GUncertain significance
Select item 2483295	NM_001374353.1(GLI2):c.2893C>T (p.Pro965Ser)	GLI2 (P840S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268071	NM_001374353.1(GLI2):c.2963G>T (p.Arg988Leu)	GLI2 (R988L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256377	NM_001374353.1(GLI2):c.3008C>T (p.Ala1003Val)	GLI2 (A1003V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100177	NM_001374353.1(GLI2):c.3029G>A (p.Arg1010Gln)	GLI2 (R1010Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312847	NM_001374353.1(GLI2):c.3067G>A (p.Val1023Met)	GLI2 (V1023M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2303563	NM_001374353.1(GLI2):c.3148G>C (p.Val1050Leu)	GLI2 (V1050L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243555	NM_001374353.1(GLI2):c.3217A>C (p.Ser1073Arg)	GLI2 (S1073R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320709	NM_001374353.1(GLI2):c.3254C>T (p.Pro1085Leu)	GLI2 (P1085L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100179	NM_001374353.1(GLI2):c.3272G>A (p.Arg1091His)	GLI2 (R1091H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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