"GLI2-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 146

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3053997	NM_001374353.1(GLI2):c.-8C>T	GLI2	Single nucleotide variant (5 prime UTR variant)	GLI2-related disorder	GLikely benign
Select item 259708	NM_001374353.1(GLI2):c.-7G>A	GLI2	Single nucleotide variant (5 prime UTR variant)	Holoprosencephaly 9 +2 more	GBenign/Likely benign
Select item 2636639	NM_001374353.1(GLI2):c.31G>C (p.Glu11Gln)	GLI2 (E11Q)	Single nucleotide variant (missense variant +1 more)	GLI2-related disorder	GUncertain significance
Select item 1049892	NM_001374353.1(GLI2):c.67G>A (p.Ala23Thr)	GLI2 (A23T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 706011	NM_001374353.1(GLI2):c.78C>T (p.Pro26=)	GLI2	Single nucleotide variant (synonymous variant +1 more)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +2 more	GLikely benign
Select item 419104	NM_001374353.1(GLI2):c.88A>C (p.Lys30Gln)	GLI2 (K30Q)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 9 +2 more	GConflicting classifications of pathogenicity
Select item 3033286	NM_001374353.1(GLI2):c.148+42_148+43insGGTG	GLI2	Insertion (intron variant)	GLI2-related disorder	GLikely benign
Select item 3057331	NM_001374353.1(GLI2):c.148+43T>C	GLI2	Single nucleotide variant (intron variant)	GLI2-related disorder	GLikely benign
Select item 3033653	NM_001374353.1(GLI2):c.148+45_148+46del	GLI2	Deletion (intron variant)	GLI2-related disorder	GLikely benign
Select item 3051950	NM_001374353.1(GLI2):c.168A>G (p.Pro56=)	GLI2	Single nucleotide variant (synonymous variant +1 more)	GLI2-related disorder	GLikely benign
Select item 3031886	NM_001374353.1(GLI2):c.180G>A (p.Ala60=)	GLI2	Single nucleotide variant (synonymous variant +1 more)	GLI2-related disorder	GLikely benign
Select item 3030636	NM_001374353.1(GLI2):c.220C>G (p.His74Asp)	GLI2 (H74D)	Single nucleotide variant (missense variant +1 more)	GLI2-related disorder	GUncertain significance
Select item 330964	NM_001374353.1(GLI2):c.220C>T (p.His74Tyr)	GLI2 (H74Y)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 9 +2 more	GConflicting classifications of pathogenicity
Select item 3029259	NM_001374353.1(GLI2):c.225C>T (p.Tyr75=)	GLI2	Single nucleotide variant (synonymous variant +1 more)	GLI2-related disorder	GLikely benign
Select item 2942127	NM_001374353.1(GLI2):c.258C>T (p.Pro86=)	GLI2	Single nucleotide variant (synonymous variant +1 more)	GLI2-related disorder +2 more	GLikely benign
Select item 2631900	NM_001374353.1(GLI2):c.268A>C (p.Ser90Arg)	GLI2 (S90R)	Single nucleotide variant (missense variant +1 more)	GLI2-related disorder	GUncertain significance
Select item 702846	NM_001374353.1(GLI2):c.291C>T (p.Asp97=)	GLI2	Single nucleotide variant (synonymous variant +1 more)	GLI2-related disorder +2 more	GBenign
Select item 444517	NM_001374353.1(GLI2):c.305G>A (p.Arg102Gln)	GLI2 (R102Q)	Single nucleotide variant (missense variant +1 more)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1372746	NM_001374353.1(GLI2):c.320C>T (p.Pro107Leu)	GLI2 (P107L)	Single nucleotide variant (missense variant +1 more)	GLI2-related disorder +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)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +2 more	GBenign
Select item 3029600	NM_001374353.1(GLI2):c.405C>G (p.Ser135Arg)	GLI2 (S10R +1 more)	Single nucleotide variant (missense variant)	GLI2-related disorder	GUncertain significance
Select item 705812	NM_001374353.1(GLI2):c.546C>T (p.Leu182=)	GLI2	Single nucleotide variant (synonymous variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +2 more	GBenign/Likely benign
Select item 2636591	NM_001374353.1(GLI2):c.547G>C (p.Val183Leu)	GLI2 (V183L +1 more)	Single nucleotide variant (missense variant)	GLI2-related disorder	GUncertain significance
Select item 3058603	NM_001374353.1(GLI2):c.555C>T (p.Gly185=)	GLI2	Single nucleotide variant (synonymous variant)	GLI2-related disorder	GLikely benign
Select item 2923459	NM_001374353.1(GLI2):c.564G>A (p.Ala188=)	GLI2	Single nucleotide variant (synonymous variant)	GLI2-related disorder +2 more	GLikely benign
Select item 2634743	NM_001374353.1(GLI2):c.571G>A (p.Gly191Arg)	GLI2 (G191R +1 more)	Single nucleotide variant (missense variant)	GLI2-related disorder	GUncertain significance
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 3057644	NM_001374353.1(GLI2):c.597C>T (p.Gly199=)	GLI2	Single nucleotide variant (synonymous variant)	GLI2-related disorder	GLikely benign
Select item 1639759	NM_001374353.1(GLI2):c.598G>A (p.Ala200Thr)	GLI2 (A200T +1 more)	Single nucleotide variant (missense variant)	GLI2-related disorder +3 more	GLikely benign
Select item 597599	NM_001374353.1(GLI2):c.606C>T (p.Ser202=)	GLI2	Single nucleotide variant (synonymous variant)	GLI2-related disorder +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)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +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 disorder +2 more	GLikely benign
Select item 665586	NM_001374353.1(GLI2):c.677G>A (p.Arg226His)	GLI2 (R226H +1 more)	Single nucleotide variant (missense variant)	GLI2-related disorder +2 more	GUncertain significance
Select item 3032803	NM_001374353.1(GLI2):c.730G>C (p.Asp244His)	GLI2 (D119H +1 more)	Single nucleotide variant (missense variant)	GLI2-related disorder	GUncertain significance
Select item 497428	NM_001374353.1(GLI2):c.765G>A (p.Ser255=)	GLI2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2631388	NM_001374353.1(GLI2):c.798_804del (p.Ser266fs)	GLI2 (S141fs +1 more)	Deletion (frameshift variant)	GLI2-related disorder	GPathogenic
Select item 3031761	NM_001374353.1(GLI2):c.813T>G (p.Gly271=)	GLI2	Single nucleotide variant (synonymous variant)	GLI2-related disorder	GLikely benign
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 3031553	NM_001374353.1(GLI2):c.846-7G>A	GLI2	Single nucleotide variant (intron variant)	GLI2-related disorder	GLikely benign
Select item 789269	NM_001374353.1(GLI2):c.1095C>T (p.Thr365=)	GLI2	Single nucleotide variant (synonymous variant)	GLI2-related disorder +2 more	GLikely benign
Select item 330969	NM_001374353.1(GLI2):c.1173G>A (p.Ala391=)	GLI2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 9 +1 more	GLikely benign
Select item 1202605	NM_001374353.1(GLI2):c.1238C>G (p.Ala413Gly)	GLI2 (A288G +2 more)	Single nucleotide variant (missense variant)	GLI2-related disorder	GUncertain significance
Select item 707067	NM_001374353.1(GLI2):c.1260C>T (p.Thr420=)	GLI2	Single nucleotide variant (synonymous variant)	GLI2-related disorder +3 more	GBenign/Likely benign
Select item 892576	NM_001374353.1(GLI2):c.1309C>G (p.Leu437Val)	GLI2 (L454V +2 more)	Single nucleotide variant (missense variant)	GLI2-related disorder +1 more	GUncertain significance
Select item 2629766	NM_001374353.1(GLI2):c.1348AAG[1] (p.Lys451del)	GLI2 (K326del +2 more)	Microsatellite (inframe_deletion)	GLI2-related disorder	GUncertain significance
Select item 498545	NM_001374353.1(GLI2):c.1370G>A (p.Trp457Ter)	GLI2 (W474* +2 more)	Single nucleotide variant (nonsense)	Holoprosencephaly 9 +3 more	GPathogenic
Select item 779826	NM_001374353.1(GLI2):c.1383G>A (p.Thr461=)	GLI2	Single nucleotide variant (synonymous variant)	GLI2-related disorder +2 more	GBenign/Likely benign
Select item 2936183	NM_001374353.1(GLI2):c.1428C>T (p.His476=)	GLI2	Single nucleotide variant (synonymous variant)	GLI2-related disorder +2 more	GLikely benign
Select item 594354	NM_001374353.1(GLI2):c.1481C>T (p.Ser494Leu)	GLI2 (S511L +2 more)	Single nucleotide variant (missense variant)	GLI2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 2635600	NM_001374353.1(GLI2):c.1526C>T (p.Ser509Phe)	GLI2 (S384F +2 more)	Single nucleotide variant (missense variant)	GLI2-related disorder	GUncertain significance
Select item 766916	NM_001374353.1(GLI2):c.1533C>T (p.Thr511=)	GLI2	Single nucleotide variant (synonymous variant)	GLI2-related disorder +2 more	GBenign/Likely benign
Select item 2633469	NM_001374353.1(GLI2):c.1534G>A (p.Gly512Arg)	GLI2 (G387R +2 more)	Single nucleotide variant (missense variant)	GLI2-related disorder	GUncertain significance
Select item 3051648	NM_001374353.1(GLI2):c.1536G>C (p.Gly512=)	GLI2	Single nucleotide variant (synonymous variant)	GLI2-related disorder	GLikely benign
Select item 707453	NM_001374353.1(GLI2):c.1577C>G (p.Ala526Gly)	GLI2 (A543G +2 more)	Single nucleotide variant (missense variant)	GLI2-related disorder +2 more	GLikely benign
Select item 3054279	NM_001374353.1(GLI2):c.1617C>G (p.Arg539=)	GLI2	Single nucleotide variant (synonymous variant)	GLI2-related disorder	GLikely benign
Select item 3029173	NM_001374353.1(GLI2):c.1620C>T (p.Thr540=)	GLI2	Single nucleotide variant (synonymous variant)	GLI2-related disorder	GLikely benign
Select item 2629564	NM_001374353.1(GLI2):c.1630G>A (p.Glu544Lys)	GLI2 (E419K +2 more)	Single nucleotide variant (missense variant)	GLI2-related disorder	GUncertain significance
Select item 1284536	NM_001374353.1(GLI2):c.1633-4C>G	GLI2	Single nucleotide variant (intron variant)	GLI2-related disorder +2 more	GLikely benign
Select item 703689	NM_001374353.1(GLI2):c.1662C>T (p.Cys554=)	GLI2	Single nucleotide variant (synonymous variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +2 more	GBenign/Likely benign
Select item 2632771	NM_001374353.1(GLI2):c.1684A>C (p.Ser562Arg)	GLI2 (S437R +2 more)	Single nucleotide variant (missense variant)	GLI2-related disorder	GUncertain significance
Select item 330972	NM_001374353.1(GLI2):c.1751A>G (p.Asn584Ser)	GLI2 (N601S +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +4 more	GBenign/Likely benign
Select item 259720	NM_001374353.1(GLI2):c.1818C>A (p.Gly606=)	GLI2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 2630410	NM_001374353.1(GLI2):c.1822C>G (p.Pro608Ala)	GLI2 (P483A +2 more)	Single nucleotide variant (missense variant)	GLI2-related disorder	GUncertain significance
Select item 2189032	NM_001374353.1(GLI2):c.1905+3A>G	GLI2	Single nucleotide variant (intron variant)	Holoprosencephaly 9 +2 more	GConflicting classifications of pathogenicity
Select item 783095	NM_001374353.1(GLI2):c.1905+7G>A	GLI2	Single nucleotide variant (intron variant)	GLI2-related disorder +2 more	GLikely benign
Select item 3032588	NM_001374353.1(GLI2):c.1923C>T (p.Pro641=)	GLI2	Single nucleotide variant (synonymous variant)	GLI2-related disorder	GLikely benign
Select item 194065	NM_001374353.1(GLI2):c.1935G>A (p.Ser645=)	GLI2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 3060929	NM_001374353.1(GLI2):c.1944C>T (p.Ser648=)	GLI2	Single nucleotide variant (synonymous variant)	GLI2-related disorder	GLikely benign
Select item 894224	NM_001374353.1(GLI2):c.1947C>T (p.Ser649=)	GLI2	Single nucleotide variant (synonymous variant)	GLI2-related disorder +2 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)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +2 more	GUncertain significance
Select item 778727	NM_001374353.1(GLI2):c.2007G>A (p.Thr669=)	GLI2	Single nucleotide variant (synonymous variant)	GLI2-related disorder +2 more	GLikely benign
Select item 2629552	NM_001374353.1(GLI2):c.2114A>G (p.His705Arg)	GLI2 (H580R +2 more)	Single nucleotide variant (missense variant)	GLI2-related disorder	GUncertain significance
Select item 285395	NM_001374353.1(GLI2):c.2136C>A (p.Phe712Leu)	GLI2 (F729L +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +4 more	GBenign/Likely benign
Select item 2637296	NM_001374353.1(GLI2):c.2161A>C (p.Lys721Gln)	GLI2 (K596Q +2 more)	Single nucleotide variant (missense variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +2 more	GUncertain significance
Select item 259724	NM_001374353.1(GLI2):c.2211G>T (p.Arg737=)	GLI2	Single nucleotide variant (synonymous variant)	GLI2-related disorder +2 more	GBenign
Select item 1978804	NM_001374353.1(GLI2):c.2242G>A (p.Gly748Ser)	GLI2 (G623S +2 more)	Single nucleotide variant (missense variant)	GLI2-related disorder +2 more	GUncertain significance
Select item 733469	NM_001374353.1(GLI2):c.2271T>C (p.Ser757=)	GLI2	Single nucleotide variant (synonymous variant)	GLI2-related disorder +2 more	GLikely benign
Select item 3053603	NM_001374353.1(GLI2):c.2289G>C (p.Ala763=)	GLI2	Single nucleotide variant (synonymous variant)	GLI2-related disorder	GLikely benign
Select item 3055225	NM_001374353.1(GLI2):c.2316G>A (p.Ser772=)	GLI2	Single nucleotide variant (synonymous variant)	GLI2-related disorder	GLikely benign
Select item 3031235	NM_001374353.1(GLI2):c.2406G>T (p.Val802=)	GLI2	Single nucleotide variant (synonymous variant)	GLI2-related disorder	GLikely benign
Select item 235325	NM_001374353.1(GLI2):c.2437T>C (p.Phe813Leu)	GLI2 (F830L +2 more)	Single nucleotide variant (missense variant)	GLI2-related disorder +3 more	GLikely benign
Select item 2633597	NM_001374353.1(GLI2):c.2453C>G (p.Ser818Cys)	GLI2 (S693C +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +2 more	GUncertain significance
Select item 2628641	NM_001374353.1(GLI2):c.2470C>A (p.Leu824Met)	GLI2 (L699M +2 more)	Single nucleotide variant (missense variant)	GLI2-related disorder	GUncertain significance
Select item 1583146	NM_001374353.1(GLI2):c.2502C>T (p.Ser834=)	GLI2	Single nucleotide variant (synonymous variant)	GLI2-related disorder +2 more	GLikely benign
Select item 3058718	NM_001374353.1(GLI2):c.2508C>T (p.Asp836=)	GLI2	Single nucleotide variant (synonymous variant)	GLI2-related disorder	GLikely benign
Select item 2948036	NM_001374353.1(GLI2):c.2589C>A (p.Asn863Lys)	GLI2 (N863K +2 more)	Single nucleotide variant (missense variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +3 more	GLikely benign
Select item 2633140	NM_001374353.1(GLI2):c.2651C>T (p.Pro884Leu)	GLI2 (P759L +2 more)	Single nucleotide variant (missense variant)	GLI2-related disorder	GUncertain significance
Select item 1628351	NM_001374353.1(GLI2):c.2652G>T (p.Pro884=)	GLI2	Single nucleotide variant (synonymous variant)	GLI2-related disorder +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)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +4 more	GBenign/Likely benign
Select item 3054858	NM_001374353.1(GLI2):c.2691G>C (p.Arg897=)	GLI2	Single nucleotide variant (synonymous variant)	GLI2-related disorder	GLikely benign
Select item 798254	NM_001374353.1(GLI2):c.2804G>C (p.Gly935Ala)	GLI2 (G935A +2 more)	Single nucleotide variant (missense variant)	GLI2-related disorder +3 more	GLikely benign
Select item 3029703	NM_001374353.1(GLI2):c.2805G>C (p.Gly935=)	GLI2	Single nucleotide variant (synonymous variant)	GLI2-related disorder	GLikely benign
Select item 3054787	NM_001374353.1(GLI2):c.2811G>A (p.Ala937=)	GLI2	Single nucleotide variant (synonymous variant)	GLI2-related disorder	GLikely benign
Select item 330982	NM_001374353.1(GLI2):c.2865T>A (p.Pro955=)	GLI2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 9 +3 more	GConflicting classifications of pathogenicity
Select item 3032815	NM_001374353.1(GLI2):c.2925C>T (p.Asn975=)	GLI2	Single nucleotide variant (synonymous variant)	GLI2-related disorder	GLikely benign
Select item 287231	NM_001374353.1(GLI2):c.2939C>G (p.Pro980Arg)	GLI2 (P997R +2 more)	Single nucleotide variant (missense variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +4 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 +4 more	GBenign/Likely benign
Select item 2629032	NM_001374353.1(GLI2):c.3007G>C (p.Ala1003Pro)	GLI2 (A1003P +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +2 more	GUncertain significance
Select item 2934803	NM_001374353.1(GLI2):c.3015C>T (p.Gly1005=)	GLI2	Single nucleotide variant (synonymous variant)	GLI2-related disorder +2 more	GLikely benign
Select item 2633112	NM_001374353.1(GLI2):c.3083A>G (p.Asp1028Gly)	GLI2 (D1028G +2 more)	Single nucleotide variant (missense variant)	GLI2-related disorder	GUncertain significance

<< First< Prev

Page of 2