ClinVar for MedGen (Select 120531) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067137	NM_000168.6(GLI3):c.2151del (p.Gln717fs)	GLI3 (Q717fs)	Deletion (frameshift variant)	Pallister-Hall syndrome +3 more	GLikely pathogenic
Select item 3066087	NM_000168.6(GLI3):c.508G>C (p.Asp170His)	GLI3 (D170H)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome	GUncertain significance
Select item 3064464	NM_000168.6(GLI3):c.2774A>C (p.Gln925Pro)	GLI3 (Q925P)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome	GUncertain significance
Select item 3062311	NM_000168.6(GLI3):c.2876_2880dup (p.Gly961fs)	GLI3 (G961fs)	Duplication (frameshift variant)	Polysyndactyly 4 +3 more	GLikely pathogenic
Select item 3062247	NM_000168.6(GLI3):c.1325_1328dup (p.Ser445fs)	GLI3 (S445fs)	Duplication (frameshift variant)	Polysyndactyly 4 +3 more	GLikely pathogenic
Select item 2954234	NM_000168.6(GLI3):c.1555_1567del (p.Asp519fs)	GLI3 (D519fs)	Deletion (frameshift variant)	Pallister-Hall syndrome +1 more	GPathogenic
Select item 2953926	NM_000168.6(GLI3):c.4081G>T (p.Glu1361Ter)	GLI3 (E1361*)	Single nucleotide variant (nonsense)	Pallister-Hall syndrome +1 more	GPathogenic
Select item 2953398	NM_000168.6(GLI3):c.532C>A (p.Pro178Thr)	GLI3 (P178T)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GUncertain significance
Select item 2952666	NM_000168.6(GLI3):c.4683C>G (p.Asp1561Glu)	GLI3 (D1561E)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GUncertain significance
Select item 2952476	NM_000168.6(GLI3):c.2623del (p.Arg875fs)	GLI3 (R875fs)	Deletion (frameshift variant)	Pallister-Hall syndrome +1 more	GPathogenic
Select item 2952080	NM_000168.6(GLI3):c.3110C>A (p.Thr1037Lys)	GLI3 (T1037K)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GLikely benign
Select item 2952046	NM_000168.6(GLI3):c.3114C>T (p.Ser1038=)	GLI3	Single nucleotide variant (synonymous variant)	Pallister-Hall syndrome +1 more	GBenign
Select item 2951447	NM_000168.6(GLI3):c.1674G>A (p.Ser558=)	GLI3	Single nucleotide variant (synonymous variant)	Pallister-Hall syndrome +1 more	GBenign
Select item 2950921	NM_000168.6(GLI3):c.2970C>T (p.Arg990=)	GLI3	Single nucleotide variant (synonymous variant)	Pallister-Hall syndrome +1 more	GBenign
Select item 2950899	NM_000168.6(GLI3):c.558del (p.Glu187fs)	GLI3 (E187fs)	Deletion (frameshift variant)	Pallister-Hall syndrome +1 more	GPathogenic
Select item 2950786	NM_000168.6(GLI3):c.1366G>A (p.Glu456Lys)	GLI3 (E456K)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GLikely benign
Select item 2950422	NM_000168.6(GLI3):c.3522C>T (p.Ser1174=)	GLI3	Single nucleotide variant (synonymous variant)	Pallister-Hall syndrome +1 more	GLikely benign
Select item 2950143	NM_000168.6(GLI3):c.4605C>T (p.Ser1535=)	GLI3	Single nucleotide variant (synonymous variant)	Greig cephalopolysyndactyly syndrome +2 more	GLikely benign
Select item 2949515	NM_000168.6(GLI3):c.4315del (p.Tyr1439fs)	GLI3 (Y1439fs)	Deletion (frameshift variant)	Pallister-Hall syndrome +1 more	GPathogenic
Select item 2949056	NM_000168.6(GLI3):c.3630T>C (p.Ala1210=)	GLI3	Single nucleotide variant (synonymous variant)	Pallister-Hall syndrome +1 more	GLikely benign
Select item 2949053	NM_000168.6(GLI3):c.2711G>A (p.Arg904His)	GLI3 (R904H)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GUncertain significance
Select item 2948288	NM_000168.6(GLI3):c.2103+5G>A	GLI3	Single nucleotide variant (intron variant)	Pallister-Hall syndrome +1 more	GUncertain significance
Select item 2948018	NM_000168.6(GLI3):c.4322_4326del (p.Gly1441fs)	GLI3 (G1441fs)	Deletion (frameshift variant)	Pallister-Hall syndrome +1 more	GPathogenic
Select item 2947731	NM_000168.6(GLI3):c.2593_2628dup (p.Ser877_Glu878insGlyIleSerProCysPheSerSerArgArgSerSer)	GLI3	Duplication (inframe_insertion)	Pallister-Hall syndrome +1 more	GUncertain significance
Select item 2947291	NM_000168.6(GLI3):c.2719A>T (p.Ser907Cys)	GLI3 (S907C)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GUncertain significance
Select item 2947099	NM_000168.6(GLI3):c.1353G>T (p.Gln451His)	GLI3 (Q451H)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GUncertain significance
Select item 2947045	NM_000168.6(GLI3):c.4017_4018insG (p.Pro1340fs)	GLI3 (P1340fs)	Insertion (frameshift variant)	Pallister-Hall syndrome +1 more	GPathogenic
Select item 2946510	NM_000168.6(GLI3):c.1357-10C>T	GLI3	Single nucleotide variant (intron variant)	Pallister-Hall syndrome +1 more	GLikely benign
Select item 2946098	NM_000168.6(GLI3):c.2737G>A (p.Asp913Asn)	GLI3 (D913N)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GLikely benign
Select item 2945404	NM_000168.6(GLI3):c.1327C>G (p.Leu443Val)	GLI3 (L443V)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GUncertain significance
Select item 2944943	NM_000168.6(GLI3):c.1348G>T (p.Gly450Trp)	GLI3 (G450W)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GUncertain significance
Select item 2944363	NM_000168.6(GLI3):c.2961C>G (p.Tyr987Ter)	GLI3 (Y987*)	Single nucleotide variant (nonsense)	Pallister-Hall syndrome +1 more	GPathogenic
Select item 2943786	NM_000168.6(GLI3):c.3442C>T (p.Gln1148Ter)	GLI3 (Q1148*)	Single nucleotide variant (nonsense)	Pallister-Hall syndrome +1 more	GPathogenic
Select item 2943681	NM_000168.6(GLI3):c.2884G>C (p.Asp962His)	GLI3 (D962H)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GUncertain significance
Select item 2943519	NM_000168.6(GLI3):c.3818G>T (p.Gly1273Val)	GLI3 (G1273V)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GLikely benign
Select item 2942350	NM_000168.6(GLI3):c.4020del (p.Gly1341fs)	GLI3 (G1341fs)	Deletion (frameshift variant)	Pallister-Hall syndrome +1 more	GPathogenic
Select item 2941939	NM_000168.6(GLI3):c.2264C>T (p.Ser755Phe)	GLI3 (S755F)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GUncertain significance
Select item 2941321	NM_000168.6(GLI3):c.2046T>C (p.Thr682=)	GLI3	Single nucleotide variant (synonymous variant)	Greig cephalopolysyndactyly syndrome +1 more	GLikely benign
Select item 2940922	NM_000168.6(GLI3):c.12G>T (p.Gln4His)	GLI3 (Q4H)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +1 more	GUncertain significance
Select item 2940921	NM_000168.6(GLI3):c.17A>C (p.His6Pro)	GLI3 (H6P)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +1 more	GUncertain significance
Select item 2940614	NM_000168.6(GLI3):c.3374G>A (p.Gly1125Glu)	GLI3 (G1125E)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +1 more	GUncertain significance
Select item 2940418	NM_000168.6(GLI3):c.2044A>G (p.Thr682Ala)	GLI3 (T682A)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +1 more	GLikely benign
Select item 2939127	NM_000168.6(GLI3):c.3892C>G (p.Pro1298Ala)	GLI3 (P1298A)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GUncertain significance
Select item 2938774	NM_000168.6(GLI3):c.1028+12C>A	GLI3	Single nucleotide variant (intron variant)	Pallister-Hall syndrome +1 more	GLikely benign
Select item 2938617	NM_000168.6(GLI3):c.4564G>C (p.Ala1522Pro)	GLI3 (A1522P)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GLikely benign
Select item 2938057	NM_000168.6(GLI3):c.2432-17C>T	GLI3	Single nucleotide variant (intron variant)	Pallister-Hall syndrome +1 more	GLikely benign
Select item 2937688	NM_000168.6(GLI3):c.538C>T (p.Arg180Trp)	GLI3 (R180W)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GBenign
Select item 2937558	NM_000168.6(GLI3):c.4331A>G (p.Tyr1444Cys)	GLI3 (Y1444C)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GLikely benign
Select item 2937390	NM_000168.6(GLI3):c.3100G>A (p.Ala1034Thr)	GLI3 (A1034T)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GLikely benign
Select item 2937320	NM_000168.6(GLI3):c.2993C>G (p.Pro998Arg)	GLI3 (P998R)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GBenign
Select item 2937053	NM_000168.6(GLI3):c.1812+7A>T	GLI3	Single nucleotide variant (intron variant)	Pallister-Hall syndrome +1 more	GLikely benign
Select item 2936654	NM_000168.6(GLI3):c.26C>T (p.Thr9Met)	GLI3 (T9M)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GLikely benign
Select item 2936541	NM_000168.6(GLI3):c.1629G>A (p.Glu543=)	GLI3	Single nucleotide variant (synonymous variant)	Pallister-Hall syndrome +1 more	GBenign
Select item 2936405	NM_000168.6(GLI3):c.3620_3621delinsAA (p.Ser1207Lys)	GLI3 (S1207K)	Indel (missense variant)	Pallister-Hall syndrome +1 more	GUncertain significance
Select item 2936060	NM_000168.6(GLI3):c.2714G>C (p.Arg905Pro)	GLI3 (R905P)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GUncertain significance
Select item 2936037	NM_000168.6(GLI3):c.3305C>A (p.Ser1102Tyr)	GLI3 (S1102Y)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GLikely benign
Select item 2936022	NM_000168.6(GLI3):c.1626C>T (p.Gly542=)	GLI3	Single nucleotide variant (synonymous variant)	Pallister-Hall syndrome +1 more	GBenign
Select item 2935908	NM_000168.6(GLI3):c.2332G>A (p.Val778Ile)	GLI3 (V778I)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GLikely benign
Select item 2935749	NM_000168.6(GLI3):c.3285C>T (p.Asp1095=)	GLI3	Single nucleotide variant (synonymous variant)	Pallister-Hall syndrome +1 more	GLikely benign
Select item 2935736	NM_000168.6(GLI3):c.4181G>T (p.Arg1394Leu)	GLI3 (R1394L)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GUncertain significance
Select item 2935662	NM_000168.6(GLI3):c.1242+7G>A	GLI3	Single nucleotide variant (intron variant)	Pallister-Hall syndrome +1 more	GLikely benign
Select item 2935504	NM_000168.6(GLI3):c.4193C>T (p.Pro1398Leu)	GLI3 (P1398L)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +1 more	GLikely benign
Select item 2935466	NM_000168.6(GLI3):c.3396C>T (p.Pro1132=)	GLI3	Single nucleotide variant (synonymous variant)	Greig cephalopolysyndactyly syndrome +1 more	GBenign
Select item 2935461	NM_000168.6(GLI3):c.3548C>T (p.Pro1183Leu)	GLI3 (P1183L)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +1 more	GUncertain significance
Select item 2935221	NM_000168.6(GLI3):c.3549C>T (p.Pro1183=)	GLI3	Single nucleotide variant (synonymous variant)	Greig cephalopolysyndactyly syndrome +1 more	GLikely benign
Select item 2934935	NM_000168.6(GLI3):c.826+10G>A	GLI3	Single nucleotide variant (intron variant)	Greig cephalopolysyndactyly syndrome +1 more	GLikely benign
Select item 2934885	NM_000168.6(GLI3):c.3099G>A (p.Pro1033=)	GLI3	Single nucleotide variant (synonymous variant)	Greig cephalopolysyndactyly syndrome +1 more	GLikely benign
Select item 2934473	NM_000168.6(GLI3):c.1461C>T (p.Cys487=)	GLI3	Single nucleotide variant (synonymous variant)	Greig cephalopolysyndactyly syndrome +1 more	GBenign
Select item 2934456	NM_000168.6(GLI3):c.1415A>G (p.Gln472Arg)	GLI3 (Q472R)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +1 more	GUncertain significance
Select item 2934373	NM_000168.6(GLI3):c.3635G>A (p.Gly1212Asp)	GLI3 (G1212D)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +1 more	GLikely benign
Select item 2934088	NM_000168.6(GLI3):c.618C>T (p.Ser206=)	GLI3	Single nucleotide variant (synonymous variant)	Greig cephalopolysyndactyly syndrome +1 more	GBenign
Select item 2934008	NM_000168.6(GLI3):c.319A>G (p.Thr107Ala)	GLI3 (T107A)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +1 more	GLikely benign
Select item 2933910	NM_000168.6(GLI3):c.2608T>G (p.Cys870Gly)	GLI3 (C870G)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +1 more	GUncertain significance
Select item 2932862	NM_000168.6(GLI3):c.263A>G (p.Lys88Arg)	GLI3 (K88R)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GUncertain significance
Select item 2932621	NM_000168.6(GLI3):c.3160G>A (p.Gly1054Ser)	GLI3 (G1054S)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GLikely benign
Select item 2931979	NM_000168.6(GLI3):c.1749C>T (p.Cys583=)	GLI3	Single nucleotide variant (synonymous variant)	Pallister-Hall syndrome +1 more	GLikely benign
Select item 2931705	NM_000168.6(GLI3):c.4029G>C (p.Gln1343His)	GLI3 (Q1343H)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GUncertain significance
Select item 2930794	NM_000168.6(GLI3):c.1949C>T (p.Pro650Leu)	GLI3 (P650L)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +1 more	GLikely benign
Select item 2930541	NM_000168.6(GLI3):c.1029-15A>T	GLI3	Single nucleotide variant (intron variant)	Greig cephalopolysyndactyly syndrome +1 more	GLikely benign
Select item 2930253	NM_000168.6(GLI3):c.331A>T (p.Met111Leu)	GLI3 (M111L)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +1 more	GUncertain significance
Select item 2929953	NM_000168.6(GLI3):c.3961G>T (p.Gly1321Trp)	GLI3 (G1321W)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +1 more	GUncertain significance
Select item 2929918	NM_000168.6(GLI3):c.2745G>A (p.Leu915=)	GLI3	Single nucleotide variant (synonymous variant)	Greig cephalopolysyndactyly syndrome +1 more	GLikely benign
Select item 2929680	NM_000168.6(GLI3):c.4409A>G (p.Gln1470Arg)	GLI3 (Q1470R)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +1 more	GLikely benign
Select item 2929066	NM_000168.6(GLI3):c.1818A>G (p.Pro606=)	GLI3	Single nucleotide variant (synonymous variant)	Greig cephalopolysyndactyly syndrome +1 more	GBenign
Select item 2928795	NM_000168.6(GLI3):c.2144G>A (p.Ser715Asn)	GLI3 (S715N)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +1 more	GLikely benign
Select item 2928660	NM_000168.6(GLI3):c.463C>T (p.Pro155Ser)	GLI3 (P155S)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +1 more	GLikely benign
Select item 2928657	NM_000168.6(GLI3):c.433C>T (p.Arg145Cys)	GLI3 (R145C)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +1 more	GLikely benign
Select item 2928627	NM_000168.6(GLI3):c.3378C>T (p.Pro1126=)	GLI3	Single nucleotide variant (synonymous variant)	Greig cephalopolysyndactyly syndrome +1 more	GLikely benign
Select item 2928544	NM_000168.6(GLI3):c.1345C>T (p.Arg449Trp)	GLI3 (R449W)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +1 more	GLikely benign
Select item 2928185	NM_000168.6(GLI3):c.1457G>C (p.Gly486Ala)	GLI3 (G486A)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +1 more	GLikely benign
Select item 2927780	NM_000168.6(GLI3):c.2965C>T (p.Arg989Trp)	GLI3 (R989W)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +1 more	GUncertain significance
Select item 2927602	NM_000168.6(GLI3):c.1056C>G (p.Ser352=)	GLI3	Single nucleotide variant (synonymous variant)	Pallister-Hall syndrome +1 more	GLikely benign
Select item 2927548	NM_000168.6(GLI3):c.4283A>C (p.Gln1428Pro)	GLI3 (Q1428P)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GLikely benign
Select item 2927186	NM_000168.6(GLI3):c.2844G>A (p.Met948Ile)	GLI3 (M948I)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GUncertain significance
Select item 2927055	NM_000168.6(GLI3):c.3698A>G (p.Asn1233Ser)	GLI3 (N1233S)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GLikely benign
Select item 2926589	NM_000168.6(GLI3):c.1375A>G (p.Thr459Ala)	GLI3 (T459A)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GLikely benign
Select item 2926505	NM_000168.6(GLI3):c.487T>C (p.Ser163Pro)	GLI3 (S163P)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GLikely benign
Select item 2926152	NM_000168.6(GLI3):c.3368C>T (p.Pro1123Leu)	GLI3 (P1123L)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GUncertain significance
Select item 2926043	NM_000168.6(GLI3):c.3411C>A (p.Ser1137Arg)	GLI3 (S1137R)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GBenign
Select item 2925994	NM_000168.6(GLI3):c.2828C>T (p.Thr943Met)	GLI3 (T943M)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GUncertain significance

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