"Ambry Genetics"[submitter] AND "GAN"[gene] - ClinVar

Search results

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 320649	NM_022041.4(GAN):c.46C>T (p.Leu16=)	GAN, LOC130059498	Single nucleotide variant (5 prime UTR variant +1 more)	GAN-related condition +3 more	GBenign/Likely benign
Select item 1991576	NM_022041.4(GAN):c.53G>A (p.Arg18Gln)	GAN, LOC130059498 (R18Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1 +1 more	GUncertain significance
Select item 1750972	NM_022041.4(GAN):c.59T>G (p.Leu20Arg)	GAN, LOC130059498 (L20R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 320651	NM_022041.4(GAN):c.75G>A (p.Glu25=)	GAN, LOC130059498	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1766176	NM_022041.4(GAN):c.91G>C (p.Asp31His)	GAN, LOC130059498 (D31H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 320652	NM_022041.4(GAN):c.132G>A (p.Gln44=)	GAN, LOC130059498	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 389206	NM_022041.4(GAN):c.159G>T (p.Pro53=)	GAN, LOC130059498	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 660928	NM_022041.4(GAN):c.244G>C (p.Val82Leu)	GAN (V82L)	Single nucleotide variant (missense variant +1 more)	Giant axonal neuropathy 1 +1 more	GUncertain significance
Select item 945377	NM_022041.4(GAN):c.283-3T>A	GAN	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2394456	NM_022041.4(GAN):c.288G>T (p.Arg96Ser)	GAN (R96S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1799228	NM_022041.4(GAN):c.304A>C (p.Ile102Leu)	GAN (I102L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1799459	NM_022041.4(GAN):c.306C>G (p.Ile102Met)	GAN (I102M)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 533940	NM_022041.4(GAN):c.330C>T (p.Asp110=)	GAN	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1 +1 more	GLikely benign
Select item 533924	NM_022041.4(GAN):c.345G>A (p.Thr115=)	GAN	Single nucleotide variant (synonymous variant +1 more)	not provided +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)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2524371	NM_022041.4(GAN):c.356C>T (p.Thr119Ile)	GAN (T119I)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 392588	NM_022041.4(GAN):c.358C>T (p.Leu120=)	GAN	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1 +3 more	GLikely benign
Select item 521987	NM_022041.4(GAN):c.432C>G (p.Tyr144Ter)	GAN (Y144*)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 320653	NM_022041.4(GAN):c.444C>T (p.His148=)	GAN	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 546775	NM_022041.4(GAN):c.445G>A (p.Val149Ile)	GAN (V149I)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 465397	NM_022041.4(GAN):c.479A>G (p.His160Arg)	GAN (H160R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1743625	NM_022041.4(GAN):c.485G>A (p.Arg162Gln)	GAN (R162Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1746155	NM_022041.4(GAN):c.521G>A (p.Ser174Asn)	GAN (S174N)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2274607	NM_022041.4(GAN):c.523C>T (p.Pro175Ser)	GAN (P175S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2511848	NM_022041.4(GAN):c.530A>G (p.Lys177Arg)	GAN (K177R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 637093	NM_022041.4(GAN):c.545T>A (p.Ile182Asn)	GAN (I182N)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 533939	NM_022041.4(GAN):c.564C>T (p.Asn188=)	GAN	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1 +1 more	GLikely benign
Select item 887051	NM_022041.4(GAN):c.572A>G (p.Asn191Ser)	GAN (N191S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1751865	NM_022041.4(GAN):c.614A>G (p.His205Arg)	GAN (H205R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1360571	NM_022041.4(GAN):c.638A>G (p.His213Arg)	GAN (H213R)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1 +1 more	GUncertain significance
Select item 1753433	NM_022041.4(GAN):c.641T>C (p.Met214Thr)	GAN (M1T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 966133	NM_022041.4(GAN):c.671C>T (p.Ser224Leu)	GAN (S224L +1 more)	Single nucleotide variant (missense variant)	Giant axonal neuropathy 1 +1 more	GUncertain significance
Select item 1056054	NM_022041.4(GAN):c.682T>C (p.Ser228Pro)	GAN (S15P +1 more)	Single nucleotide variant (missense variant)	Giant axonal neuropathy 1 +1 more	GUncertain significance
Select item 653267	NM_022041.4(GAN):c.715C>G (p.Pro239Ala)	GAN (P239A +1 more)	Single nucleotide variant (missense variant)	Giant axonal neuropathy 1 +1 more	GUncertain significance
Select item 157527	NM_022041.4(GAN):c.730A>G (p.Ile244Val)	GAN (I244V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 465399	NM_022041.4(GAN):c.741G>A (p.Glu247=)	GAN	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 576442	NM_022041.4(GAN):c.743G>A (p.Cys248Tyr)	GAN (C248Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 959049	NM_022041.4(GAN):c.761G>A (p.Ser254Asn)	GAN (S254N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 320654	NM_022041.4(GAN):c.801A>G (p.Lys267=)	GAN	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 583275	NM_022041.4(GAN):c.805C>T (p.Arg269Trp)	GAN (R269W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 521988	NM_022041.4(GAN):c.806G>A (p.Arg269Gln)	GAN (R269Q +1 more)	Single nucleotide variant (missense variant)	Giant axonal neuropathy 1 +1 more	GConflicting classifications of pathogenicity
Select item 1762865	NM_022041.4(GAN):c.830C>G (p.Thr277Ser)	GAN (T277S +1 more)	Single nucleotide variant (missense variant)	Giant axonal neuropathy 1 +1 more	GUncertain significance
Select item 246282	NM_022041.4(GAN):c.851+1G>A	GAN	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 659731	NM_022041.4(GAN):c.857G>A (p.Arg286Gln)	GAN (R286Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1764033	NM_022041.4(GAN):c.860A>G (p.Lys287Arg)	GAN (K287R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1764127	NM_022041.4(GAN):c.863C>T (p.Pro288Leu)	GAN (P288L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 245843	NM_022041.4(GAN):c.944C>T (p.Pro315Leu)	GAN (P315L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 533938	NM_022041.4(GAN):c.945G>A (p.Pro315=)	GAN	Single nucleotide variant (synonymous variant)	Giant axonal neuropathy 1 +1 more	GLikely benign
Select item 637529	NM_022041.4(GAN):c.973G>A (p.Glu325Lys)	GAN (E325K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 662377	NM_022041.4(GAN):c.973+6G>A	GAN	Single nucleotide variant (intron variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1408531	NM_022041.4(GAN):c.1045C>T (p.Pro349Ser)	GAN (P136S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 465384	NM_022041.4(GAN):c.1065A>C (p.Thr355=)	GAN	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2331981	NM_022041.4(GAN):c.1084G>C (p.Glu362Gln)	GAN (E362Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1787562	NM_022041.4(GAN):c.1086+6A>T	GAN	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1795359	NM_022041.4(GAN):c.1112_1124delinsGA (p.Glu371fs)	GAN (E371fs +1 more)	Indel (frameshift variant)	Inborn genetic diseases	GPathogenic
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 289457	NM_022041.4(GAN):c.1162C>T (p.Leu388=)	GAN	Single nucleotide variant (synonymous variant)	Giant axonal neuropathy 1 +3 more	GConflicting classifications of pathogenicity
Select item 465387	NM_022041.4(GAN):c.1182C>T (p.Tyr394=)	GAN	Single nucleotide variant (synonymous variant)	GAN-related condition +3 more	GBenign/Likely benign
Select item 861336	NM_022041.4(GAN):c.1183G>A (p.Asp395Asn)	GAN (D395N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1742924	NM_022041.4(GAN):c.1184A>G (p.Asp395Gly)	GAN (D182G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 566391	NM_022041.4(GAN):c.1199C>G (p.Thr400Ser)	GAN (T400S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1749614	NM_022041.4(GAN):c.1209G>T (p.Lys403Asn)	GAN (K403N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1751133	NM_022041.4(GAN):c.1214C>G (p.Pro405Arg)	GAN (P192R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1758271	NM_022041.4(GAN):c.1240G>A (p.Gly414Ser)	GAN (G414S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1766025	NM_022041.4(GAN):c.1273G>A (p.Ala425Thr)	GAN (A212T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 261480	NM_022041.4(GAN):c.1287C>G (p.Gly429=)	GAN	Single nucleotide variant (synonymous variant)	Giant axonal neuropathy 1 +2 more	GLikely benign
Select item 649944	NM_022041.4(GAN):c.1327C>A (p.Pro443Thr)	GAN (P443T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 579624	NM_022041.4(GAN):c.1327C>G (p.Pro443Ala)	GAN (P443A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1980671	NM_022041.4(GAN):c.1334C>T (p.Thr445Ile)	GAN (T232I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 382397	NM_022041.4(GAN):c.1362A>G (p.Leu454=)	GAN	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1395811	NM_022041.4(GAN):c.1368G>C (p.Glu456Asp)	GAN (E456D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 950231	NM_022041.4(GAN):c.1373+4C>T	GAN	Single nucleotide variant (intron variant)	Giant axonal neuropathy 1 +1 more	GUncertain significance
Select item 863477	NM_022041.4(GAN):c.1388C>T (p.Ala463Val)	GAN (A250V +1 more)	Single nucleotide variant (missense variant)	Giant axonal neuropathy 1 +1 more	GUncertain significance
Select item 965559	NM_022041.4(GAN):c.1436G>A (p.Arg479His)	GAN (R479H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 533927	NM_022041.4(GAN):c.1444G>A (p.Ala482Thr)	GAN (A482T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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)	GAN-related condition +3 more	GConflicting classifications of pathogenicity
Select item 5030	NM_022041.4(GAN):c.1456G>A (p.Glu486Lys)	GAN (E486K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 1001625	NM_022041.4(GAN):c.1499A>G (p.Lys500Arg)	GAN (K287R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 533926	NM_022041.4(GAN):c.1511A>G (p.Tyr504Cys)	GAN (Y504C +1 more)	Single nucleotide variant (missense variant)	Giant axonal neuropathy 1 +1 more	GUncertain significance
Select item 320657	NM_022041.4(GAN):c.1518C>T (p.Asn506=)	GAN	Single nucleotide variant (synonymous variant)	Giant axonal neuropathy 1 +2 more	GConflicting classifications of pathogenicity
Select item 2271509	NM_022041.4(GAN):c.1521C>G (p.Asp507Glu)	GAN (D507E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1775502	NM_022041.4(GAN):c.1570C>T (p.Pro524Ser)	GAN (P311S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 465390	NM_022041.4(GAN):c.1590T>C (p.Tyr530=)	GAN	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 533937	NM_022041.4(GAN):c.1593T>G (p.Val531=)	GAN	Single nucleotide variant (synonymous variant)	Giant axonal neuropathy 1 +1 more	GLikely benign
Select item 465391	NM_022041.4(GAN):c.1596T>C (p.Ile532=)	GAN	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 234569	NM_022041.4(GAN):c.1630G>A (p.Val544Met)	GAN (V544M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 320659	NM_022041.4(GAN):c.1665C>G (p.His555Gln)	GAN (H555Q +1 more)	Single nucleotide variant (missense variant)	Giant axonal neuropathy 1 +1 more	GUncertain significance
Select item 1202307	NM_022041.4(GAN):c.1678C>T (p.Leu560Phe)	GAN (L347F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 965148	NM_022041.4(GAN):c.1715C>G (p.Ala572Gly)	GAN (A359G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1948709	NM_022041.4(GAN):c.1758G>C (p.Gln586His)	GAN (Q586H +1 more)	Single nucleotide variant (missense variant)	Giant axonal neuropathy 1 +1 more	GUncertain significance
Select item 950438	NM_022041.4(GAN):c.1778G>A (p.Arg593His)	GAN (R380H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2331982	NM_022041.4(GAN):c.1780G>T (p.Val594Phe)	GAN (V381F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1429034	NM_022041.4(GAN):c.1792del (p.Ter598GluextTer?)	GAN	Deletion (frameshift variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance

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Items: 94