GNAL[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58716	GRCh38/hg38 18p11.32-11.21(chr18:10001-15380684)x3	ADCYAP1, AFG3L2 +379 more	Copy number gain	See cases	GPathogenic
Select item 152926	GRCh38/hg38 18p11.32-11.21(chr18:14316-14206225)x3	ADCYAP1, AFG3L2 +373 more	Copy number gain	See cases	GPathogenic
Select item 153128	GRCh38/hg38 18p11.32-11.21(chr18:48782-14978076)x1	ADCYAP1, AFG3L2 +378 more	Copy number loss	See cases	GPathogenic
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 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 59614	GRCh38/hg38 18p11.32-11.21(chr18:112259-14122522)x1	ADCYAP1, AFG3L2 +368 more	Copy number loss	See cases	GPathogenic
Select item 155127	GRCh38/hg38 18p11.32-11.21(chr18:118760-12642431)x3	LOC129390958, LOC130062070 +300 more	Copy number gain	See cases	GUncertain significance
Select item 152548	GRCh38/hg38 18p11.32-11.21(chr18:118760-15024003)x1	NDUFV2-AS1, PIEZO2 +374 more	Copy number loss	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 148383	GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x1	LOC130062167, LOC130062168 +367 more	Copy number loss	See cases	GPathogenic
Select item 148382	GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x4	LOC125338465, LOC125338466 +367 more	Copy number gain	See cases	GPathogenic
Select item 59617	GRCh38/hg38 18p11.32-11.21(chr18:131700-14226905)x1	LOC130062104, LOC130062105 +368 more	Copy number loss	See cases	GPathogenic
Select item 59615	GRCh38/hg38 18p11.32-11.21(chr18:131700-15121055)x1	ADCYAP1, AFG3L2 +374 more	Copy number loss	See cases	GPathogenic
Select item 149042	GRCh38/hg38 18p11.32-11.21(chr18:133157-14089410)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 155410	GRCh38/hg38 18p11.32-11.21(chr18:136226-14337134)x3	LOC130062144, LOC130062145 +368 more	Copy number gain	See cases	GPathogenic
Select item 155367	GRCh38/hg38 18p11.32-11.21(chr18:136226-15198991)x4	ADCYAP1, AFG3L2 +374 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 151749	GRCh38/hg38 18p11.32-11.21(chr18:136226-15175006)	ADCYAP1, AFG3L2 +374 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160884	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 146198	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x4	ADCYAP1, AFG3L2 +367 more	Copy number gain	See cases	GPathogenic
Select item 59916	GRCh38/hg38 18p11.32-11.21(chr18:148963-13068104)x1	ADCYAP1, AFG3L2 +327 more	Copy number loss	See cases	GPathogenic
Select item 59913	GRCh38/hg38 18p11.32-11.21(chr18:148963-13530126)x1	ADCYAP1, AFG3L2 +344 more	Copy number loss	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58728	GRCh38/hg38 18p11.32-q11.1(chr18:148963-21040153)x3	SLC35G4, SMCHD1 +375 more	Copy number gain	See cases	GPathogenic
Select item 57340	GRCh38/hg38 18p11.32-11.21(chr18:148963-13715860)x1	LOC129390955, LOC129390956 +358 more	Copy number loss	See cases	GPathogenic
Select item 34384	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 2579191	GRCh38/hg38 18p11.32-11.21(chr18:158286-14124574)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 154072	GRCh38/hg38 18p11.32-11.21(chr18:958974-11954935)x1	AKAIN1, ANKRD12 +246 more	Copy number loss	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 147396	GRCh38/hg38 18p11.32-11.21(chr18:2425507-11904118)x3	AKAIN1, ANKRD12 +230 more	Copy number gain	See cases	GPathogenic
Select item 148429	GRCh38/hg38 18p11.23-11.21(chr18:7290175-13049470)x1	AFG3L2, ANKRD12 +164 more	Copy number loss	See cases	GLikely pathogenic
Select item 155008	GRCh38/hg38 18p11.22-q11.2(chr18:8779843-24685379)x3	LOC130062208, LOC130062209 +322 more	Copy number gain	See cases	GPathogenic
Select item 147418	GRCh38/hg38 18p11.22-11.21(chr18:10077657-14081888)x3	AFG3L2, ANKRD62 +137 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 2905926	NM_182978.4(GNAL):c.9G>C (p.Leu3=)	GNAL	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 808357	NM_182978.4(GNAL):c.37G>T (p.Gly13Trp)	GNAL (G13W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 566897	NM_182978.4(GNAL):c.46G>C (p.Gly16Arg)	GNAL (G16R)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 1112127	NM_182978.4(GNAL):c.48G>A (p.Gly16=)	GNAL	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 493232	NM_182978.4(GNAL):c.63G>T (p.Ala21=)	GNAL	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 526210	NM_182978.4(GNAL):c.69G>A (p.Ser23=)	GNAL	Single nucleotide variant (synonymous variant)	Dystonic disorder	GUncertain significance
Select item 2648590	NM_182978.4(GNAL):c.71A>G (p.Glu24Gly)	GNAL (E24G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1169620	NM_182978.4(GNAL):c.137G>A (p.Arg46Lys)	GNAL (R46K)	Single nucleotide variant (missense variant)	Dystonic disorder +1 more	GBenign
Select item 2405736	NM_182978.4(GNAL):c.151A>C (p.Thr51Pro)	GNAL (T51P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2637618	NM_182978.4(GNAL):c.193C>T (p.Arg65Trp)	GNAL (R65W)	Single nucleotide variant (genic upstream transcript variant +1 more)	not specified	GUncertain significance
Select item 655904	NM_182978.4(GNAL):c.194G>A (p.Arg65Gln)	GNAL (R65Q)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2498735	NM_182978.4(GNAL):c.250_267dup (p.Ala89_Lys90insGluGluArgGluAlaAla)	GNAL	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2682247	NM_182978.4(GNAL):c.249C>G (p.Ala83=)	GNAL	Single nucleotide variant (genic upstream transcript variant +1 more)	not specified	GUncertain significance
Select item 1299265	NM_182978.4(GNAL):c.266_283dup (p.Ala89_Ala94dup)	GNAL	Duplication (inframe_insertion)	not provided	GLikely benign
Select item 1175112	NM_182978.4(GNAL):c.252G>A (p.Glu84=)	GNAL	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 416013	NM_182978.4(GNAL):c.261G>A (p.Glu87=)	GNAL	Single nucleotide variant (synonymous variant)	Dystonic disorder +1 more	GBenign
Select item 444426	NM_182978.4(GNAL):c.265G>A (p.Ala89Thr)	GNAL (A89T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 648506	NM_182978.4(GNAL):c.268A>G (p.Lys90Glu)	GNAL (K90E)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 650685	NM_182978.4(GNAL):c.271G>A (p.Glu91Lys)	GNAL (E91K)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 1806039	NM_182978.4(GNAL):c.311G>A (p.Gly104Asp)	GNAL (G104D)	Single nucleotide variant (missense variant)	Dystonia 25	GUncertain significance
Select item 810706	NM_182978.4(GNAL):c.329G>A (p.Arg110His)	GNAL (R110H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 526219	NM_182978.4(GNAL):c.357G>T (p.Thr119=)	GNAL	Single nucleotide variant (synonymous variant)	Dystonic disorder	GBenign
Select item 3346232	NM_182978.4(GNAL):c.376G>C (p.Gly126Arg)	GNAL (G126R)	Single nucleotide variant (missense variant)	GNAL-related disorder	GUncertain significance
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 1569946	NM_182978.4(GNAL):c.376+6675C>T	GNAL	Single nucleotide variant (intron variant)	Dystonic disorder	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 2736692	NM_001369387.1(GNAL):c.3G>A (p.Met1Ile)	GNAL (M1I)	Single nucleotide variant (missense variant +2 more)	Dystonic disorder	GPathogenic
Select item 1718603	NM_001369387.1(GNAL):c.20A>T (p.Asn7Ile)	GNAL (N7I)	Single nucleotide variant (missense variant +1 more)	Dystonic disorder	GUncertain significance
Select item 700631	NM_001369387.1(GNAL):c.30G>T (p.Thr10=)	GNAL	Single nucleotide variant (synonymous variant +1 more)	Dystonic disorder	GBenign
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 1043845	NM_001369387.1(GNAL):c.37G>T (p.Asp13Tyr)	GNAL (D13Y)	Single nucleotide variant (missense variant +1 more)	Dystonic disorder	GLikely pathogenic
Select item 2741399	NM_001369387.1(GNAL):c.46G>T (p.Val16Phe)	GNAL (V16F)	Single nucleotide variant (missense variant +1 more)	Dystonic disorder	GUncertain significance
Select item 1451598	NM_001369387.1(GNAL):c.55_64dup (p.Arg22fs)	GNAL (R22fs)	Duplication (frameshift variant +1 more)	Dystonic disorder	GPathogenic
Select item 1095938	NM_001369387.1(GNAL):c.54A>G (p.Glu18=)	GNAL	Single nucleotide variant (synonymous variant +1 more)	Dystonic disorder	GLikely benign
Select item 39972	NM_001369387.1(GNAL):c.61C>T (p.Arg21Ter)	GNAL (R21*)	Single nucleotide variant (nonsense +1 more)	Dystonia 25	GPathogenic
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 1454252	NM_001369387.1(GNAL):c.91C>T (p.Gln31Ter)	GNAL (Q31*)	Single nucleotide variant (nonsense +1 more)	Dystonic disorder	GPathogenic
Select item 416014	NM_182978.4(GNAL):c.377-307_377-302del	GNAL	Deletion (inframe_indel +1 more)	Dystonic disorder	GBenign
Select item 2828653	NM_001369387.1(GNAL):c.120G>C (p.Lys40Asn)	GNAL (K40N)	Single nucleotide variant (missense variant +1 more)	Dystonic disorder	GUncertain significance
Select item 526222	NM_001369387.1(GNAL):c.132C>T (p.Arg44=)	GNAL	Single nucleotide variant (synonymous variant +1 more)	Dystonic disorder +1 more	GBenign/Likely benign
Select item 2176857	NM_001369387.1(GNAL):c.142C>T (p.Leu48=)	GNAL	Single nucleotide variant (synonymous variant +1 more)	Dystonic disorder	GLikely benign
Select item 3045058	NM_182978.4(GNAL):c.377-265del	GNAL	Deletion (intron variant)	GNAL-related disorder	GLikely benign
Select item 2920750	NM_182978.4(GNAL):c.377-261G>C	GNAL	Single nucleotide variant (intron variant)	Dystonia 25	GUncertain significance
Select item 1273574	NM_182978.4(GNAL):c.377-116C>G	GNAL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2199787	NM_182978.4(GNAL):c.377-8G>C	GNAL	Single nucleotide variant (intron variant)	Dystonic disorder	GLikely benign
Select item 2648591	NM_182978.4(GNAL):c.377-3C>T	GNAL	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 696922	NM_182978.4(GNAL):c.387G>A (p.Glu129=)	GNAL	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign

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