ClinVar for Gene (Select 2736) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3572750	NM_001374353.1(GLI2):c.3791G>A (p.Gly1264Glu)	GLI2 (G1281E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3520511	NM_001374353.1(GLI2):c.3094C>T (p.Pro1032Ser)	GLI2 (P1049S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3520510	NM_001374353.1(GLI2):c.4370C>T (p.Pro1457Leu)	GLI2 (P1332L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3520509	NM_001374353.1(GLI2):c.4591C>G (p.Arg1531Gly)	GLI2 (R1406G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3520508	NM_001374353.1(GLI2):c.2998G>A (p.Gly1000Ser)	GLI2 (G1017S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3520507	NM_001374353.1(GLI2):c.3571C>G (p.Arg1191Gly)	GLI2 (R1066G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3520506	NM_001374353.1(GLI2):c.3478A>G (p.Lys1160Glu)	GLI2 (K1177E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3520505	NM_001374353.1(GLI2):c.2294T>C (p.Leu765Pro)	GLI2 (L640P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3520504	NM_001374353.1(GLI2):c.911G>A (p.Arg304Lys)	GLI2 (R304K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3520503	NM_001374353.1(GLI2):c.2713G>T (p.Ala905Ser)	GLI2 (A922S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3520501	NM_001374353.1(GLI2):c.20C>T (p.Ala7Val)	GLI2 (A7V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3393725	NM_001374353.1(GLI2):c.508G>A (p.Gly170Ser)	GLI2 (G170S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3391706	NM_001374353.1(GLI2):c.3296A>T (p.Asn1099Ile)	GLI2 (N1099I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3389327	NM_001374353.1(GLI2):c.1408C>T (p.Gln470Ter)	GLI2 (Q345* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3385286	NM_001374353.1(GLI2):c.2965G>C (p.Gly989Arg)	GLI2 (G1006R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3384751	NM_001374353.1(GLI2):c.2525C>T (p.Ser842Phe)	GLI2 (S717F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3384240	NM_001374353.1(GLI2):c.4025T>G (p.Met1342Arg)	GLI2 (M1217R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3383633	NM_001374353.1(GLI2):c.2515G>A (p.Asp839Asn)	GLI2 (D714N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3383228	NM_001374353.1(GLI2):c.1182+1G>T	GLI2	Single nucleotide variant (splice donor variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	GUncertain significance
Select item 3382784	NM_001374353.1(GLI2):c.2987_2994dup (p.Asp999fs)	GLI2 (D1016fs +2 more)	Duplication (frameshift variant)	Holoprosencephaly 9 +1 more	GLikely pathogenic
Select item 3382439	NM_001374353.1(GLI2):c.349del (p.Ala117fs)	GLI2 (A117fs)	Deletion (frameshift variant +1 more)	Holoprosencephaly 9 +1 more	GLikely pathogenic
Select item 3382438	NM_001374353.1(GLI2):c.349_350delinsA (p.Ala117fs)	GLI2 (A117fs)	Indel (frameshift variant +1 more)	Holoprosencephaly 9 +1 more	GLikely pathogenic
Select item 3382280	NM_001374353.1(GLI2):c.693_696dup (p.Leu233fs)	GLI2 (L108fs +1 more)	Duplication (frameshift variant)	Holoprosencephaly 9 +1 more	GLikely pathogenic
Select item 3376295	NM_001374353.1(GLI2):c.1345del (p.Glu449fs)	GLI2 (E324fs +2 more)	Deletion (frameshift variant)	Holoprosencephaly 9	GLikely pathogenic
Select item 3376156	NM_001374353.1(GLI2):c.31G>T (p.Glu11Ter)	GLI2 (E11*)	Single nucleotide variant (nonsense +1 more)	Holoprosencephaly 9	GLikely pathogenic
Select item 3375584	NM_001374353.1(GLI2):c.3541del (p.Leu1181fs)	GLI2 (L1056fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3375407	NM_001374353.1(GLI2):c.2175T>C (p.Asp725=)	GLI2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3375304	NM_001374353.1(GLI2):c.3590dup (p.Ile1199fs)	GLI2 (I1074fs +2 more)	Duplication (frameshift variant)	GLI2-related disorder	GPathogenic
Select item 3375303	NM_001374353.1(GLI2):c.3213G>A (p.Thr1071=)	GLI2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3375040	NM_001374353.1(GLI2):c.3583C>A (p.Pro1195Thr)	GLI2 (P1070T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3372958	NM_001374353.1(GLI2):c.26C>T (p.Ala9Val)	GLI2 (A9V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3372563	NM_001374353.1(GLI2):c.3856G>T (p.Gly1286Trp)	GLI2 (G1161W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371826	NM_001374353.1(GLI2):c.1442C>T (p.Thr481Met)	GLI2 (T356M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371803	NM_001374353.1(GLI2):c.281_282delinsAT (p.Val94Asp)	GLI2 (V94D)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 3371627	NM_001374353.1(GLI2):c.3538G>T (p.Gly1180Cys)	GLI2 (G1055C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371614	NM_001374353.1(GLI2):c.3022T>G (p.Ser1008Ala)	GLI2 (S1008A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371469	NM_001374353.1(GLI2):c.2425A>G (p.Ile809Val)	GLI2 (I684V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371221	NM_001374353.1(GLI2):c.4529G>A (p.Gly1510Asp)	GLI2 (G1385D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371165	NM_001374353.1(GLI2):c.2062G>C (p.Asp688His)	GLI2 (D563H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369495	NM_001374353.1(GLI2):c.4067C>T (p.Pro1356Leu)	GLI2 (P1231L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368807	NM_001374353.1(GLI2):c.634C>G (p.Pro212Ala)	GLI2 (P212A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368584	NM_001374353.1(GLI2):c.2891T>C (p.Leu964Pro)	GLI2 (L839P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366516	NM_001374353.1(GLI2):c.350C>G (p.Ala117Gly)	GLI2 (A117G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3365775	NM_001374353.1(GLI2):c.1040G>A (p.Cys347Tyr)	GLI2 (C222Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364814	NM_001374353.1(GLI2):c.1760A>G (p.His587Arg)	GLI2 (H462R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364743	NM_001374353.1(GLI2):c.800_801delinsTA (p.Ser267Leu)	GLI2 (S142L +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 3363796	NM_001374353.1(GLI2):c.3388A>C (p.Asn1130His)	GLI2 (N1005H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363680	NM_001374353.1(GLI2):c.2236G>A (p.Gly746Arg)	GLI2 (G621R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362136	NM_001374353.1(GLI2):c.1217G>C (p.Arg406Thr)	GLI2 (R281T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362005	NM_001374353.1(GLI2):c.3116C>T (p.Pro1039Leu)	GLI2 (P1039L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361501	NM_001374353.1(GLI2):c.447C>G (p.Ser149Arg)	GLI2 (S149R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361232	NM_001374353.1(GLI2):c.1350G>T (p.Lys450Asn)	GLI2 (K325N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361014	NM_001374353.1(GLI2):c.653T>C (p.Phe218Ser)	GLI2 (F218S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360680	NM_001374353.1(GLI2):c.1496G>T (p.Arg499Leu)	GLI2 (R374L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360536	NM_001374353.1(GLI2):c.2321T>C (p.Leu774Pro)	GLI2 (L649P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360500	NM_001374353.1(GLI2):c.4114G>A (p.Val1372Met)	GLI2 (V1247M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360447	NM_001374353.1(GLI2):c.4519T>G (p.Leu1507Val)	GLI2 (L1382V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359989	NM_001374353.1(GLI2):c.1547A>G (p.Tyr516Cys)	GLI2 (Y391C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359782	NM_001374353.1(GLI2):c.2885T>A (p.Leu962Gln)	GLI2 (L837Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3356125	NM_001374353.1(GLI2):c.1977C>A (p.Asn659Lys)	GLI2 (N534K +2 more)	Single nucleotide variant (missense variant)	GLI2-related disorder	GUncertain significance
Select item 3353167	NM_001374353.1(GLI2):c.360G>A (p.Pro120=)	GLI2	Single nucleotide variant (synonymous variant +1 more)	GLI2-related disorder	GLikely benign
Select item 3352782	NM_001374353.1(GLI2):c.2897G>T (p.Arg966Leu)	GLI2 (R841L +2 more)	Single nucleotide variant (missense variant)	GLI2-related disorder	GUncertain significance
Select item 3350552	NM_001374353.1(GLI2):c.4447G>A (p.Val1483Met)	GLI2 (V1358M +2 more)	Single nucleotide variant (missense variant)	GLI2-related disorder	GUncertain significance
Select item 3349917	NM_001374353.1(GLI2):c.1344G>A (p.Gly448=)	GLI2	Single nucleotide variant (synonymous variant)	GLI2-related disorder	GLikely benign
Select item 3349006	NM_001374353.1(GLI2):c.1217G>A (p.Arg406Lys)	GLI2 (R281K +2 more)	Single nucleotide variant (missense variant)	GLI2-related disorder	GUncertain significance
Select item 3348504	NM_001374353.1(GLI2):c.1748G>A (p.Arg583His)	GLI2 (R458H +2 more)	Single nucleotide variant (missense variant)	GLI2-related disorder	GUncertain significance
Select item 3346595	NM_001374353.1(GLI2):c.2467C>T (p.Pro823Ser)	GLI2 (P698S +2 more)	Single nucleotide variant (missense variant)	GLI2-related disorder	GUncertain significance
Select item 3344454	NM_001374353.1(GLI2):c.2332G>A (p.Glu778Lys)	GLI2 (E653K +2 more)	Single nucleotide variant (missense variant)	GLI2-related disorder	GUncertain significance
Select item 3343072	NM_001374353.1(GLI2):c.903C>A (p.Ser301Arg)	GLI2 (S176R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340963	NM_001374353.1(GLI2):c.260dup (p.Ala88fs)	GLI2 (A88fs)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 3340701	NM_001374353.1(GLI2):c.881T>A (p.Val294Glu)	GLI2 (V169E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340322	NM_001374353.1(GLI2):c.2214C>G (p.Asn738Lys)	GLI2 (N613K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340210	NM_001374353.1(GLI2):c.3331C>T (p.Gln1111Ter)	GLI2 (Q1111* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3340209	NM_001374353.1(GLI2):c.757C>T (p.Pro253Ser)	GLI2 (P128S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339931	NM_001374353.1(GLI2):c.381G>A (p.Glu127=)	GLI2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3339037	NM_001374353.1(GLI2):c.4135G>C (p.Ala1379Pro)	GLI2 (A1254P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3337149	NM_001374353.1(GLI2):c.217T>C (p.Tyr73His)	GLI2 (Y73H)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 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 3281561	NM_001374353.1(GLI2):c.3593G>A (p.Gly1198Asp)	GLI2 (G1073D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3281559	NM_001374353.1(GLI2):c.3613A>T (p.Met1205Leu)	GLI2 (M1222L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3257397	NM_001374353.1(GLI2):c.2303A>G (p.Asn768Ser)	GLI2 (N643S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253339	NM_001374353.1(GLI2):c.254+1G>A	GLI2	Single nucleotide variant (splice donor variant +1 more)	not provided	GUncertain significance
Select item 3253042	NM_001374353.1(GLI2):c.347A>T (p.Asn116Ile)	GLI2 (N116I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3252772	NM_001374353.1(GLI2):c.1637C>T (p.Pro546Leu)	GLI2 (P421L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252527	NM_001374353.1(GLI2):c.4028G>A (p.Gly1343Glu)	GLI2 (G1218E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252388	NM_001374353.1(GLI2):c.700T>C (p.Ser234Pro)	GLI2 (S109P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251373	NM_001374353.1(GLI2):c.3056C>T (p.Ala1019Val)	GLI2 (A1019V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3236584	NM_001374353.1(GLI2):c.254+1G>T	GLI2	Single nucleotide variant (splice donor variant +1 more)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GLikely pathogenic
Select item 3233759	NM_001374353.1(GLI2):c.1632+19C>T	GLI2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3233597	NM_001374353.1(GLI2):c.1632+16A>T	GLI2	Single nucleotide variant (intron variant)	not specified	GLikely benign
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 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 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 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 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 3100182	NM_001374353.1(GLI2):c.4118A>C (p.Gln1373Pro)	GLI2 (Q1390P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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