LOC130059498[gene] - ClinVar

Search results

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059420, LOC130059421 +869 more	Copy number gain	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	LOC132090408, LOC132090409 +572 more	Copy number gain	See cases	GPathogenic
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	ADAD2, ADAMTS18 +591 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	See cases	GPathogenic
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 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC130059772, LOC130059773 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC132090418, LOC132090419 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	ACSF3, ADAD2 +781 more	Copy number gain	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 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	LOC130059746, LOC130059747 +719 more	Copy number gain	See cases	GPathogenic
Select item 2665080	GRCh38/hg38 16q23.2-23.3(chr16:79568000-83552000)	ARLNC1, ATMIN +162 more	Copy number loss	CMIP-related neurodevelopmental disorder	GLikely pathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	LOC130059500, LOC130059501 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	LOC132090448, LOC132090449 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	LOC130059591, LOC130059592 +670 more	Copy number gain	See cases	GPathogenic
Select item 60058	GRCh38/hg38 16q23.2(chr16:80975821-81354743)x3	ATMIN, BCO1 +20 more	Copy number gain	See cases	GUncertain significance
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 320647	NM_022041.4(GAN):c.-74G>C	GAN, LOC130059498	Single nucleotide variant (5 prime UTR variant)	Giant axonal neuropathy 1	GUncertain significance
Select item 320648	NM_022041.4(GAN):c.-70C>T	GAN, LOC130059498	Single nucleotide variant (5 prime UTR variant)	Giant axonal neuropathy 1	GUncertain significance
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 886049	NM_022041.4(GAN):c.-15G>C	LOC130059498, GAN	Single nucleotide variant (5 prime UTR variant)	Giant axonal neuropathy 1	GUncertain significance
Select item 658302	NM_022041.4(GAN):c.4G>A (p.Ala2Thr)	GAN, LOC130059498 (A2T)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 1989090	NM_022041.4(GAN):c.6T>G (p.Ala2=)	GAN, LOC130059498	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GLikely benign
Select item 1094983	NM_022041.4(GAN):c.9G>A (p.Glu3=)	GAN, LOC130059498	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GLikely benign
Select item 1375626	NM_022041.4(GAN):c.10G>A (p.Gly4Ser)	GAN, LOC130059498 (G4S)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 1675636	NM_022041.4(GAN):c.13A>C (p.Ser5Arg)	GAN, LOC130059498 (S5R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1037987	NM_022041.4(GAN):c.14G>C (p.Ser5Thr)	GAN, LOC130059498 (S5T)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 958058	NM_022041.4(GAN):c.14G>A (p.Ser5Asn)	GAN, LOC130059498 (S5N)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 465394	NM_022041.4(GAN):c.17C>T (p.Ala6Val)	GAN, LOC130059498 (A6V)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 2964245	NM_022041.4(GAN):c.18C>T (p.Ala6=)	GAN, LOC130059498	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GLikely benign
Select item 637533	NM_022041.4(GAN):c.18_19insA (p.Val7fs)	GAN, LOC130059498 (V7fs)	Insertion (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GConflicting classifications of pathogenicity
Select item 637445	NM_022041.4(GAN):c.20_57del (p.Val7fs)	GAN, LOC130059498 (V7fs)	Deletion (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 157530	NM_022041.4(GAN):c.23C>G (p.Ser8Cys)	GAN, LOC130059498 (S8C)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 1385949	NM_022041.4(GAN):c.25G>T (p.Asp9Tyr)	GAN, LOC130059498 (D9Y)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 2867015	NM_022041.4(GAN):c.27C>G (p.Asp9Glu)	GAN, LOC130059498 (D9E)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 1654113	NM_022041.4(GAN):c.27C>T (p.Asp9=)	GAN, LOC130059498	Single nucleotide variant (synonymous variant +1 more)	Giant axonal neuropathy 1	GLikely benign
Select item 1922946	NM_022041.4(GAN):c.28C>T (p.Pro10Ser)	GAN, LOC130059498 (P10S)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 645135	NM_022041.4(GAN):c.29C>G (p.Pro10Arg)	GAN, LOC130059498 (P10R)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 2126373	NM_022041.4(GAN):c.37G>A (p.Ala13Thr)	GAN, LOC130059498 (A13T)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 5036	NM_022041.4(GAN):c.43C>A (p.Arg15Ser)	GAN, LOC130059498 (R15S)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GConflicting classifications of pathogenicity
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 1422264	NM_022041.4(GAN):c.47_48delinsAC (p.Leu16His)	GAN, LOC130059498 (L16H)	Indel (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 1991576	NM_022041.4(GAN):c.53G>A (p.Arg18Gln)	GAN, LOC130059498 (R18Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 320650	NM_022041.4(GAN):c.56C>A (p.Ala19Glu)	GAN, LOC130059498 (A19E)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 1617342	NM_022041.4(GAN):c.57G>T (p.Ala19=)	GAN, LOC130059498	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GLikely benign
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 1912756	NM_022041.4(GAN):c.60C>G (p.Leu20=)	GAN, LOC130059498	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GLikely benign
Select item 1055925	NM_022041.4(GAN):c.62G>C (p.Ser21Thr)	GAN, LOC130059498 (S21T)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 1147198	NM_022041.4(GAN):c.63C>T (p.Ser21=)	GAN, LOC130059498	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GLikely benign
Select item 1498640	NM_022041.4(GAN):c.65_66delinsTA (p.Ser22Leu)	GAN, LOC130059498 (S22L)	Indel (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 705288	NM_022041.4(GAN):c.72C>G (p.Arg24=)	GAN, LOC130059498	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GLikely benign
Select item 320651	NM_022041.4(GAN):c.75G>A (p.Glu25=)	GAN, LOC130059498	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1 +1 more	GConflicting classifications of pathogenicity
Select item 2741772	NM_022041.4(GAN):c.79T>C (p.Ser27Pro)	GAN, LOC130059498 (S27P)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 1474016	NM_022041.4(GAN):c.80C>G (p.Ser27Cys)	GAN, LOC130059498 (S27C)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1 +1 more	GUncertain significance
Select item 663315	NM_022041.4(GAN):c.82C>G (p.Arg28Gly)	GAN, LOC130059498 (R28G)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 2766551	NM_022041.4(GAN):c.84C>T (p.Arg28=)	GAN, LOC130059498	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GLikely benign
Select item 1766176	NM_022041.4(GAN):c.91G>C (p.Asp31His)	GAN, LOC130059498 (D31H)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1 +1 more	GUncertain significance
Select item 1368271	NM_022041.4(GAN):c.95C>T (p.Ala32Val)	GAN, LOC130059498 (A32V)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 637102	NM_022041.4(GAN):c.98A>C (p.His33Pro)	GAN, LOC130059498 (H33P)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 2683377	NM_022041.4(GAN):c.103G>A (p.Val35Ile)	GAN, LOC130059498 (V35I)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1085134	NM_022041.4(GAN):c.108C>T (p.Leu36=)	GAN, LOC130059498	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GLikely benign
Select item 533929	NM_022041.4(GAN):c.112G>A (p.Gly38Arg)	GAN, LOC130059498 (G38R)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 2871112	NM_022041.4(GAN):c.118G>T (p.Glu40Ter)	GAN, LOC130059498 (E40*)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GPathogenic
Select item 2884578	NM_022041.4(GAN):c.123C>T (p.Ile41=)	GAN, LOC130059498	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GLikely benign
Select item 637097	NM_022041.4(GAN):c.130C>T (p.Gln44Ter)	GAN, LOC130059498 (Q44*)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	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 3098277	NM_022041.4(GAN):c.134A>T (p.Lys45Met)	GAN, LOC130059498 (K45M)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2905663	NM_022041.4(GAN):c.135G>A (p.Lys45=)	GAN, LOC130059498	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GLikely benign
Select item 1989095	NM_022041.4(GAN):c.141C>T (p.Ile47=)	GAN, LOC130059498	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GLikely benign
Select item 981180	NM_022041.4(GAN):c.141C>G (p.Ile47Met)	GAN, LOC130059498 (I47M)	Single nucleotide variant (missense variant +1 more)	Hypotonia	GLikely pathogenic
Select item 2166074	NM_022041.4(GAN):c.142C>T (p.Leu48=)	GAN, LOC130059498	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GLikely benign
Select item 637442	NM_022041.4(GAN):c.145G>A (p.Ala49Thr)	GAN, LOC130059498 (A49T)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 637096	NM_022041.4(GAN):c.146C>A (p.Ala49Glu)	GAN, LOC130059498 (A49E)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 842136	NM_022041.4(GAN):c.148G>T (p.Ala50Ser)	GAN, LOC130059498 (A50S)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 637087	NM_022041.4(GAN):c.151G>C (p.Ala51Pro)	LOC130059498, GAN (A51P)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 637443	NM_022041.4(GAN):c.154A>G (p.Ser52Gly)	GAN, LOC130059498 (S52G)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 3367053	NM_022041.4(GAN):c.156C>A (p.Ser52Arg)	GAN, LOC130059498 (S52R)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 261481	NM_022041.4(GAN):c.156C>T (p.Ser52=)	GAN, LOC130059498	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GLikely benign
Select item 637103	NM_022041.4(GAN):c.158C>T (p.Pro53Leu)	GAN, LOC130059498 (P53L)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
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 2022555	NM_022041.4(GAN):c.162C>T (p.Tyr54=)	GAN, LOC130059498	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GLikely benign
Select item 1998044	NM_022041.4(GAN):c.167G>A (p.Arg56Lys)	GAN, LOC130059498 (R56K)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 2882917	NM_022041.4(GAN):c.167+5_167+6del	GAN, LOC130059498	Deletion (intron variant)	Giant axonal neuropathy 1	GUncertain significance
Select item 1058951	NM_022041.4(GAN):c.167+4G>C	GAN, LOC130059498	Single nucleotide variant (intron variant)	Giant axonal neuropathy 1	GUncertain significance
Select item 261482	NM_022041.4(GAN):c.167+12G>C	GAN, LOC130059498	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2196101	NM_022041.4(GAN):c.167+16C>T	GAN, LOC130059498	Single nucleotide variant (intron variant)	Giant axonal neuropathy 1	GLikely benign
Select item 1550835	NM_022041.4(GAN):c.167+16C>G	GAN, LOC130059498	Single nucleotide variant (intron variant)	Giant axonal neuropathy 1	GLikely benign

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Items: 93