"GeneDx"[submitter] AND "GAN"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59515	GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1	LOC112486211, LOC112486212 +360 more	Copy number loss	See cases	GPathogenic
Select item 59517	GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1	LOC130059506, LOC130059507 +447 more	Copy number loss	See cases	GPathogenic
Select item 145976	GRCh38/hg38 16q23.1-23.3(chr16:78790450-83255421)x1	LOC130059528, LOC130059529 +162 more	Copy number loss	See cases	GPathogenic
Select item 1193294	NC_000016.10:g.81314671G>C	GAN	Single nucleotide variant	not provided	GLikely benign
Select item 682664	NM_022041.3(GAN):c.-323G>T	GAN	Single nucleotide variant	not provided	GBenign
Select item 673442	NM_022041.3(GAN):c.-235A>G	GAN, LOC130059497	Single nucleotide variant	not provided	GBenign
Select item 320646	NM_022041.4(GAN):c.-75G>C	GAN, LOC130059498	Single nucleotide variant (5 prime UTR variant)	Giant axonal neuropathy 1 +1 more	GBenign
Select item 510077	NM_022041.4(GAN):c.-47G>A	GAN, LOC130059498	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 320649	NM_022041.4(GAN):c.46C>T (p.Leu16=)	GAN, LOC130059498	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 389206	NM_022041.4(GAN):c.159G>T (p.Pro53=)	GAN, LOC130059498	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1 +2 more	GBenign/Likely benign
Select item 680312	NM_022041.4(GAN):c.167+221T>G	GAN, LOC130059499	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293482	NM_022041.4(GAN):c.168-147A>G	GAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282624	NM_022041.4(GAN):c.168-66G>A	GAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 261483	NM_022041.4(GAN):c.168-48C>G	GAN	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 637534	NM_022041.4(GAN):c.236C>T (p.Ser79Leu)	GAN (S79L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 513198	NM_022041.4(GAN):c.237G>A (p.Ser79=)	GAN	Single nucleotide variant (synonymous variant +1 more)	Giant axonal neuropathy 1 +1 more	GLikely benign
Select item 680313	NM_022041.4(GAN):c.282+223C>T	GAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682665	NM_022041.4(GAN):c.283-283A>G	GAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186283	NM_022041.4(GAN):c.283-229A>G	GAN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198192	NM_022041.4(GAN):c.283-149dup	GAN	Duplication (intron variant)	not provided	GLikely benign
Select item 1298055	NM_022041.4(GAN):c.283-149del	GAN	Deletion (intron variant)	not provided	GBenign
Select item 1186114	NM_022041.4(GAN):c.283-150_283-149del	GAN	Deletion (intron variant)	not provided	GLikely benign
Select item 675707	NM_022041.4(GAN):c.283-40G>T	GAN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 377911	NM_022041.4(GAN):c.283-20T>C	GAN	Single nucleotide variant (intron variant)	Giant axonal neuropathy 1 +1 more	GBenign/Likely benign
Select item 261484	NM_022041.4(GAN):c.283-14T>C	GAN	Single nucleotide variant (intron variant)	Giant axonal neuropathy 1 +1 more	GConflicting classifications of pathogenicity
Select item 1024101	NM_022041.4(GAN):c.313GTT[1] (p.Val106del)	GAN (V106del)	Microsatellite (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 533924	NM_022041.4(GAN):c.345G>A (p.Thr115=)	GAN	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 426643	NM_022041.4(GAN):c.355A>T (p.Thr119Ser)	GAN (T119S)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1 +2 more	GConflicting classifications of pathogenicity
Select item 392588	NM_022041.4(GAN):c.358C>T (p.Leu120=)	GAN	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 245992	NM_022041.4(GAN):c.413G>T (p.Arg138Leu)	GAN (R138L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 391830	NM_022041.4(GAN):c.421G>T (p.Ala141Ser)	GAN (A141S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1403425	NM_022041.4(GAN):c.490G>A (p.Val164Ile)	GAN (V164I)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 390244	NM_022041.4(GAN):c.492C>T (p.Val164=)	GAN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 1803564	NM_022041.4(GAN):c.500C>G (p.Thr167Arg)	GAN (T167R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 246037	NM_022041.4(GAN):c.565G>T (p.Val189Phe)	GAN (V189F)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 3370554	NM_022041.4(GAN):c.620C>G (p.Thr207Arg)	GAN (T207R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 817947	NM_022041.4(GAN):c.630_633del (p.Lys211fs)	GAN (K211fs)	Deletion (5 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 245920	NM_022041.4(GAN):c.633+2T>C	GAN	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 382229	NM_022041.4(GAN):c.633+19A>G	GAN	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1190159	NM_022041.4(GAN):c.633+298C>T	GAN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193252	NM_022041.4(GAN):c.634-230C>T	GAN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1213548	NM_022041.4(GAN):c.634-55A>G	GAN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245282	NM_022041.4(GAN):c.634-51T>C	GAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 383444	NM_022041.4(GAN):c.634-15T>C	GAN	Single nucleotide variant (intron variant)	Giant axonal neuropathy 1 +1 more	GBenign/Likely benign
Select item 514098	NM_022041.4(GAN):c.660T>C (p.Ala220=)	GAN	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 642674	NM_022041.4(GAN):c.670T>G (p.Ser224Ala)	GAN (S224A +1 more)	Single nucleotide variant (missense variant)	Giant axonal neuropathy 1 +1 more	GUncertain significance
Select item 432298	NM_022041.4(GAN):c.679G>T (p.Asp227Tyr)	GAN (D227Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 157527	NM_022041.4(GAN):c.730A>G (p.Ile244Val)	GAN (I244V +1 more)	Single nucleotide variant (missense variant)	Giant axonal neuropathy 1 +2 more	GConflicting classifications of pathogenicity
Select item 3375564	NM_022041.4(GAN):c.757C>G (p.Leu253Val)	GAN (L253V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1878719	NM_022041.4(GAN):c.776G>C (p.Gly259Ala)	GAN (G259A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 246282	NM_022041.4(GAN):c.851+1G>A	GAN	Single nucleotide variant (splice donor variant)	not specified +3 more	GPathogenic/Likely pathogenic
Select item 1217091	NM_022041.4(GAN):c.851+119dup	GAN	Duplication (intron variant)	not provided	GLikely benign
Select item 674152	NM_022041.4(GAN):c.851+125T>C	GAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218831	NM_022041.4(GAN):c.851+258C>G	GAN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208990	NM_022041.4(GAN):c.852-337A>C	GAN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205118	NM_022041.4(GAN):c.852-329T>C	GAN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215533	NM_022041.4(GAN):c.852-25A>G	GAN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 511552	NM_022041.4(GAN):c.852-13T>C	GAN	Single nucleotide variant (intron variant)	Giant axonal neuropathy 1 +1 more	GLikely benign
Select item 1499199	NM_022041.4(GAN):c.937A>G (p.Ser313Gly)	GAN (S100G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 245843	NM_022041.4(GAN):c.944C>T (p.Pro315Leu)	GAN (P315L +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 860580	NM_022041.4(GAN):c.955C>A (p.His319Asn)	GAN (H106N +1 more)	Single nucleotide variant (missense variant)	Giant axonal neuropathy 1 +1 more	GUncertain significance
Select item 432299	NM_022041.4(GAN):c.972A>T (p.Ala324=)	GAN	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 662377	NM_022041.4(GAN):c.973+6G>A	GAN	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1228055	NM_022041.4(GAN):c.973+148G>A	GAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189406	NM_022041.4(GAN):c.973+237C>A	GAN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682666	NM_022041.4(GAN):c.974-303C>T	GAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1327666	NM_022041.4(GAN):c.974-225G>T	GAN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680740	NM_022041.4(GAN):c.974-186A>G	GAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293485	NM_022041.4(GAN):c.1086+51C>T	GAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 637432	NM_022041.4(GAN):c.1086+71C>T	GAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217043	NM_022041.4(GAN):c.1086+219C>A	GAN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211717	NM_022041.4(GAN):c.1086+259C>T	GAN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191486	NM_022041.4(GAN):c.1086+269C>T	GAN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669768	NM_022041.4(GAN):c.1087-314dup	GAN	Duplication (intron variant)	not provided	GBenign
Select item 681702	NM_022041.4(GAN):c.1087-233T>C	GAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293334	NM_022041.4(GAN):c.1087-225T>A	GAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670529	NM_022041.4(GAN):c.1087-161T>C	GAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 452562	NM_022041.4(GAN):c.1132A>G (p.Ile378Val)	GAN (I378V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 573059	NM_022041.4(GAN):c.1139G>T (p.Gly380Val)	GAN (G380V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 289457	NM_022041.4(GAN):c.1162C>T (p.Leu388=)	GAN	Single nucleotide variant (synonymous variant)	Giant axonal neuropathy 1 +2 more	GConflicting classifications of pathogenicity
Select item 453094	NM_022041.4(GAN):c.1171A>G (p.Met391Val)	GAN (M391V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 465387	NM_022041.4(GAN):c.1182C>T (p.Tyr394=)	GAN	Single nucleotide variant (synonymous variant)	Giant axonal neuropathy 1 +2 more	GBenign/Likely benign
Select item 682667	NM_022041.4(GAN):c.1236+256T>C	GAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201227	NM_022041.4(GAN):c.1237-272A>T	GAN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669770	NM_022041.4(GAN):c.1237-261G>A	GAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205467	NM_022041.4(GAN):c.1237-109C>G	GAN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680741	NM_022041.4(GAN):c.1237-59G>A	GAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 261479	NM_022041.4(GAN):c.1239C>T (p.Ile413=)	GAN	Single nucleotide variant (synonymous variant)	Giant axonal neuropathy 1 +2 more	GBenign/Likely benign
Select item 245921	NM_022041.4(GAN):c.1241G>A (p.Gly414Asp)	GAN (G414D +1 more)	Single nucleotide variant (missense variant)	Giant axonal neuropathy 1 +1 more	GUncertain significance
Select item 246242	NM_022041.4(GAN):c.1259A>C (p.Lys420Thr)	GAN (K420T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 129131	NM_022041.4(GAN):c.1293C>T (p.Tyr431=)	GAN	Single nucleotide variant (synonymous variant)	Giant axonal neuropathy 1 +2 more	GBenign
Select item 1304903	NM_022041.4(GAN):c.1315G>A (p.Glu439Lys)	GAN (E226K +1 more)	Single nucleotide variant (missense variant)	Giant axonal neuropathy 1 +1 more	GUncertain significance
Select item 698178	NM_022041.4(GAN):c.1323T>C (p.Tyr441=)	GAN	Single nucleotide variant (synonymous variant)	Giant axonal neuropathy 1 +1 more	GConflicting classifications of pathogenicity
Select item 579624	NM_022041.4(GAN):c.1327C>G (p.Pro443Ala)	GAN (P443A +1 more)	Single nucleotide variant (missense variant)	Giant axonal neuropathy 1 +2 more	GUncertain significance
Select item 382397	NM_022041.4(GAN):c.1362A>G (p.Leu454=)	GAN	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 581073	NM_022041.4(GAN):c.1381G>A (p.Ala461Thr)	GAN (A461T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 533933	NM_022041.4(GAN):c.1391G>A (p.Cys464Tyr)	GAN (C464Y +1 more)	Single nucleotide variant (missense variant)	Giant axonal neuropathy 1 +1 more	GUncertain significance
Select item 265171	NM_022041.4(GAN):c.1445C>T (p.Ala482Val)	GAN (A482V +1 more)	Single nucleotide variant (missense variant)	Giant axonal neuropathy 1 +2 more	GConflicting classifications of pathogenicity
Select item 382657	NM_022041.4(GAN):c.1502+11A>G	GAN	Single nucleotide variant (intron variant)	Giant axonal neuropathy 1 +1 more	GBenign/Likely benign
Select item 1191773	NM_022041.4(GAN):c.1502+147G>A	GAN	Single nucleotide variant (intron variant)	not provided	GLikely benign

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