"GeneDx"[submitter] AND "GNAL"[gene] - ClinVar

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Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58720	GRCh38/hg38 18p11.32-q11.1(chr18:53345-20948503)x3	LINC00668, LINC01254 +379 more	Copy number gain	See cases	GPathogenic
Select item 58749	GRCh38/hg38 18p11.32-11.21(chr18:1919684-15325188)x3	LOC130062147, LOC130062148 +339 more	Copy number gain	See cases	GPathogenic
Select item 1287805	NC_000018.10:g.11688873A>G	GNAL	Single nucleotide variant	not provided	GBenign
Select item 1263328	NC_000018.10:g.11688980G>A	GNAL	Single nucleotide variant	not provided	GBenign
Select item 1280122	NM_182978.4(GNAL):c.-111C>T	GNAL	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1246973	NM_182978.4(GNAL):c.-41T>C	GNAL	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GBenign
Select item 1210893	NM_182978.4(GNAL):c.107C>T (p.Pro36Leu)	GNAL (P36L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1169619	NM_182978.4(GNAL):c.113_118dup (p.Leu38_Ala39dup)	GNAL	Duplication (inframe_insertion)	Dystonic disorder +1 more	GBenign
Select item 1237593	NM_182978.4(GNAL):c.113_118del (p.Leu38_Ala39del)	GNAL	Deletion (inframe_deletion)	not provided	GBenign
Select item 416013	NM_182978.4(GNAL):c.261G>A (p.Glu87=)	GNAL	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1707229	NM_182978.4(GNAL):c.376+80_376+81insCGGCGGGCACCGGGGAGCGGCGGCGGGCACCGGGGAGCGG	GNAL	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1266296	NM_182978.4(GNAL):c.376+61_376+80dup	GNAL	Duplication (intron variant)	not provided	GBenign
Select item 1277014	NM_182978.4(GNAL):c.376+81T>C	GNAL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191367	NM_182978.4(GNAL):c.376+124C>T	GNAL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230781	NM_182978.4(GNAL):c.376+241A>C	GNAL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2499400	NM_182978.4(GNAL):c.377-1344G>A	GNAL	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 1242048	NM_182978.4(GNAL):c.377-864T>G	GNAL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220039	NM_182978.4(GNAL):c.377-857C>T	GNAL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289005	NM_182978.4(GNAL):c.377-850C>T	GNAL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191915	NM_182978.4(GNAL):c.377-829C>G	GNAL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3372376	NM_001369387.1(GNAL):c.32C>T (p.Thr11Met)	GNAL (T11M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 238559	NM_001369387.1(GNAL):c.66C>T (p.Arg22=)	GNAL	Single nucleotide variant (synonymous variant +1 more)	Dystonic disorder +1 more	GBenign/Likely benign
Select item 1273574	NM_182978.4(GNAL):c.377-116C>G	GNAL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2503343	NM_182978.4(GNAL):c.401C>T (p.Thr134Ile)	GNAL (T134I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1248029	NM_182978.4(GNAL):c.449+19C>A	GNAL	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1246969	NM_182978.4(GNAL):c.449+145del	GNAL	Deletion (intron variant)	not provided	GBenign
Select item 1216266	NM_182978.4(GNAL):c.449+264T>C	GNAL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228979	NM_182978.4(GNAL):c.449+299del	GNAL	Deletion (intron variant)	not provided	GBenign
Select item 1268569	NM_182978.4(GNAL):c.450-221A>T	GNAL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265952	NM_182978.4(GNAL):c.450-165T>C	GNAL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195304	NM_182978.4(GNAL):c.450-143T>C	GNAL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1291930	NM_182978.4(GNAL):c.450-140G>A	GNAL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194682	NM_182978.4(GNAL):c.450-82C>T	GNAL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287306	NM_182978.4(GNAL):c.504+35G>A	GNAL	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1215770	NM_182978.4(GNAL):c.505-27C>T	GNAL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201151	NM_182978.4(GNAL):c.505-26A>T	GNAL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181230	NM_182978.4(GNAL):c.505-24A>T	GNAL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3372055	NM_182978.4(GNAL):c.581A>G (p.Tyr194Cys)	GNAL (Y117C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1268653	NM_182978.4(GNAL):c.624+48T>C	GNAL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182962	NM_182978.4(GNAL):c.624+90T>C	GNAL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206687	NM_182978.4(GNAL):c.624+324T>C	GNAL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1251168	NM_182978.4(GNAL):c.625-289G>A	GNAL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296576	NM_182978.4(GNAL):c.625-221dup	GNAL	Duplication (intron variant)	not provided	GBenign
Select item 1236619	NM_182978.4(GNAL):c.625-222_625-221insTAA	GNAL	Insertion (intron variant)	not provided	GBenign
Select item 1230127	NM_182978.4(GNAL):c.625-220C>T	GNAL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260997	NM_182978.4(GNAL):c.625-217_625-216insT	GNAL	Insertion (intron variant)	not provided	GBenign
Select item 1227262	NM_182978.4(GNAL):c.625-145C>G	GNAL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221629	NM_182978.4(GNAL):c.625-88A>G	GNAL	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1282668	NM_182978.4(GNAL):c.625-26dup	GNAL	Duplication (intron variant)	not provided	GBenign
Select item 1207100	NM_182978.4(GNAL):c.625-27_625-26dup	GNAL	Duplication (intron variant)	not provided	GLikely benign
Select item 1258127	NM_182978.4(GNAL):c.625-37T>A	GNAL	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1213204	NM_182978.4(GNAL):c.625-26del	GNAL	Deletion (intron variant)	not provided	GLikely benign
Select item 1285298	NM_182978.4(GNAL):c.625-31T>G	GNAL	Single nucleotide variant (intron variant)	Dystonia 25 +2 more	GBenign
Select item 39967	NM_182978.4(GNAL):c.640G>A (p.Val214Met)	GNAL (V137M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1259184	NM_182978.4(GNAL):c.722+198G>C	GNAL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266540	NM_182978.4(GNAL):c.722+212C>T	GNAL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281561	NM_182978.4(GNAL):c.777+249T>C	GNAL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216753	NM_182978.4(GNAL):c.778-36A>G	GNAL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212646	NM_182978.4(GNAL):c.851+73A>C	GNAL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1227949	NM_182978.4(GNAL):c.851+102A>G	GNAL	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1286260	NM_182978.4(GNAL):c.851+115A>G	GNAL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227130	NM_182978.4(GNAL):c.851+118A>G	GNAL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204541	NM_182978.4(GNAL):c.851+217T>G	GNAL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1283324	NM_182978.4(GNAL):c.910+72C>T	GNAL	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1205669	NM_182978.4(GNAL):c.910+238A>T	GNAL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217088	NM_182978.4(GNAL):c.911-330T>C	GNAL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214059	NM_182978.4(GNAL):c.911-270C>T	GNAL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1180187	NM_182978.4(GNAL):c.911-231del	GNAL	Deletion (intron variant)	not provided	GBenign
Select item 1208149	NM_182978.4(GNAL):c.1031+76G>A	GNAL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269447	NM_182978.4(GNAL):c.1031+253G>A	GNAL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238746	NM_182978.4(GNAL):c.1031+335C>T	GNAL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252844	NM_182978.4(GNAL):c.1032-125C>G	GNAL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267055	NM_182978.4(GNAL):c.1032-113C>T	GNAL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225668	NM_182978.4(GNAL):c.1032-93G>T	GNAL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268758	NM_182978.4(GNAL):c.1162+119T>C	GNAL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255009	NM_182978.4(GNAL):c.1162+176C>A	GNAL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260912	NM_182978.4(GNAL):c.1163-300G>T	GNAL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278021	NM_182978.4(GNAL):c.1163-298T>C	GNAL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219506	NM_182978.4(GNAL):c.1163-209G>A	GNAL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247672	NM_182978.4(GNAL):c.1163-189_1163-174dup	GNAL	Duplication (intron variant)	not provided	GBenign
Select item 626331	NM_182978.4(GNAL):c.1163-7T>G	GNAL	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1204605	NM_182978.4(GNAL):c.1230+104C>T	GNAL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186842	NM_182978.4(GNAL):c.1230+113C>A	GNAL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196395	NM_182978.4(GNAL):c.1231-69G>A	GNAL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 416012	NM_182978.4(GNAL):c.1245C>T (p.Ala415=)	GNAL	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 455977	NM_182978.4(GNAL):c.1249G>A (p.Gly417Ser)	GNAL (G340S +2 more)	Single nucleotide variant (missense variant)	Dystonic disorder +1 more	GUncertain significance
Select item 420850	NM_182978.4(GNAL):c.1291G>A (p.Val431Met)	GNAL (V354M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2497811	NM_182978.4(GNAL):c.1325A>G (p.Asp442Gly)	GNAL (D158G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367254	NM_182978.4(GNAL):c.1336A>G (p.Ile446Val)	GNAL (I162V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1810132	NM_182978.4(GNAL):c.1370T>G (p.Leu457Arg)	GNAL (L173R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1212223	NM_182978.4(GNAL):c.*27G>T	GNAL	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1275020	NM_182978.4(GNAL):c.*190G>A	GNAL	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 253656	GRCh37/hg19 18p11.32-11.21(chr18:163323-14103971)x1	ANKRD62, MC2R +63 more	Copy number loss	See cases	GPathogenic
Select item 253619	GRCh37/hg19 18p11.32-11.21(chr18:14316-15328499)x1	NDUFV2, CETN1 +65 more	Copy number loss	See cases	GPathogenic
Select item 253449	GRCh37/hg19 18p11.32-11.21(chr18:163323-15102598)x4	POTEC, LRRC30 +65 more	Copy number gain	See cases	GPathogenic
Select item 253424	GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3	TNFRSF11A, TXNL1 +267 more	Copy number gain	See cases	GPathogenic
Select item 3361963	NM_182978.4(GNAL):c.529A>T (p.Ile177Leu)	GNAL (I100L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359831	NM_182978.4(GNAL):c.376+2T>C	GNAL	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance

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Items: 98