LOC130059394[gene] - ClinVar

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Items: 85

	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 59514	GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1	AARS1, ADAT1 +295 more	Copy number loss	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 59996	GRCh38/hg38 16q22.3-23.1(chr16:73917167-75319927)x3	BCAR1, CFDP1 +75 more	Copy number gain	See cases	GUncertain significance
Select item 150420	GRCh38/hg38 16q23.1(chr16:74207339-74862823)x1	CLEC18B, FA2H +23 more	Copy number loss	See cases	GUncertain significance
Select item 60021	GRCh38/hg38 16q23.1(chr16:74658508-75378014)x3	BCAR1, CFDP1 +60 more	Copy number gain	See cases	GUncertain significance
Select item 153591	GRCh38/hg38 16q23.1(chr16:74688486-75377736)x3	BCAR1, CFDP1 +58 more	Copy number gain	See cases	GUncertain significance
Select item 155326	GRCh38/hg38 16q23.1(chr16:74693100-74959509)x1	FA2H, LOC125177351 +12 more	Copy number loss	See cases	GLikely benign
Select item 2505161	NC_000016.10:g.74773969_74776493del	FA2H, LOC130059393 +3 more	Deletion	Hereditary spastic paraplegia 35	GLikely pathogenic
Select item 623362	NM_024306.5(FA2H):c.207C>G (p.His69Gln)	FA2H, LOC130059394 (H69Q)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 374759	NM_024306.5(FA2H):c.205C>T (p.His69Tyr)	FA2H, LOC130059394 (H69Y)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 35 +2 more	GUncertain significance
Select item 1028804	NM_024306.5(FA2H):c.202A>G (p.Arg68Gly)	LOC130059394, FA2H (R68G)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 35 +2 more	GConflicting classifications of pathogenicity
Select item 2627474	NM_024306.5(FA2H):c.201C>G (p.His67Gln)	FA2H, LOC130059394 (H67Q)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 1079374	NM_024306.5(FA2H):c.198G>A (p.Pro66=)	FA2H, LOC130059394	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 699084	NM_024306.5(FA2H):c.198G>C (p.Pro66=)	LOC130059394, FA2H	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 989137	NM_024306.5(FA2H):c.190G>T (p.Gly64Trp)	FA2H, LOC130059394 (G64W)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 35	GPathogenic
Select item 962302	NM_024306.5(FA2H):c.190G>C (p.Gly64Arg)	FA2H, LOC130059394 (G64R)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2269473	NM_024306.5(FA2H):c.178G>A (p.Ala60Thr)	FA2H, LOC130059394 (A60T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1400082	NM_024306.5(FA2H):c.176G>C (p.Ser59Thr)	FA2H, LOC130059394 (S59T)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 30871	NM_024306.5(FA2H):c.159_176del (p.Arg53_Ile58del)	FA2H, LOC130059394	Deletion (inframe_deletion)	Spastic paraplegia +2 more	GPathogenic
Select item 582427	NM_024306.5(FA2H):c.173T>C (p.Ile58Thr)	FA2H, LOC130059394 (I58T)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 2873411	NM_024306.5(FA2H):c.162_171dup (p.Ile58fs)	FA2H, LOC130059394 (I58fs)	Duplication (frameshift variant)	Spastic paraplegia	GPathogenic
Select item 242580	NC_000016.9:g.74808495_74808504dupCCTGGCCCGC	FA2H, LOC130059394 (D57fs)	Microsatellite (frameshift variant)	Spastic paraplegia	GPathogenic
Select item 803272	NM_024306.5(FA2H):c.160_169del (p.Ala54fs)	FA2H, LOC130059394 (A54fs)	Microsatellite (frameshift variant)	Hereditary spastic paraplegia 35	GLikely pathogenic
Select item 969910	NM_024306.5(FA2H):c.166del (p.Gln56fs)	FA2H, LOC130059394 (Q56fs)	Deletion (frameshift variant)	Spastic paraplegia	GPathogenic
Select item 1145179	NM_024306.5(FA2H):c.162G>T (p.Ala54=)	FA2H, LOC130059394	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2765287	NM_024306.5(FA2H):c.159G>A (p.Arg53=)	LOC130059394, FA2H	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1610719	NM_024306.5(FA2H):c.148C>T (p.Leu50=)	FA2H, LOC130059394	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 372860	NM_024306.5(FA2H):c.139G>A (p.Glu47Lys)	FA2H, LOC130059394 (E47K)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 35 +2 more	GConflicting classifications of pathogenicity
Select item 2292915	NM_024306.5(FA2H):c.134G>C (p.Gly45Ala)	FA2H, LOC130059394 (G45A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1344330	NM_024306.5(FA2H):c.133G>A (p.Gly45Arg)	FA2H, LOC130059394 (G45R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 584457	NM_024306.5(FA2H):c.133G>T (p.Gly45Trp)	FA2H, LOC130059394 (G45W)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 35	GLikely pathogenic
Select item 1210342	NM_024306.5(FA2H):c.131del (p.Pro44fs)	FA2H, LOC130059394 (P44fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 35	GPathogenic
Select item 458305	NM_024306.5(FA2H):c.131C>A (p.Pro44Gln)	FA2H, LOC130059394 (P44Q)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 449574	NM_024306.5(FA2H):c.130C>T (p.Pro44Ser)	FA2H, LOC130059394 (P44S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 2612874	NM_024306.5(FA2H):c.126C>G (p.His42Gln)	FA2H, LOC130059394 (H42Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1991506	NM_024306.5(FA2H):c.126C>A (p.His42Gln)	FA2H, LOC130059394 (H42Q)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1684571	NM_024306.5(FA2H):c.115_121del (p.Phe39fs)	FA2H, LOC130059394 (F39fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 35	GLikely pathogenic
Select item 2194147	NM_024306.5(FA2H):c.117C>G (p.Phe39Leu)	FA2H, LOC130059394 (F39L)	Single nucleotide variant (missense variant)	Spastic paraplegia	GPathogenic
Select item 242579	NC_000016.9:g.74808537G>T	FA2H, LOC130059394 (F39L)	Single nucleotide variant (missense variant)	Spastic paraplegia	GPathogenic
Select item 1394888	NM_024306.5(FA2H):c.113G>A (p.Ser38Asn)	FA2H, LOC130059394 (S38N)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 964494	NM_024306.5(FA2H):c.106C>G (p.Leu36Val)	FA2H, LOC130059394 (L36V)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 1044	NM_024306.5(FA2H):c.103G>T (p.Asp35Tyr)	FA2H, LOC130059394 (D35Y)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 35	GConflicting classifications of pathogenicity
Select item 488512	NM_024306.5(FA2H):c.102C>G (p.Tyr34Ter)	FA2H, LOC130059394 (Y34*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 35	GPathogenic
Select item 1591007	NM_024306.5(FA2H):c.96C>T (p.Arg32=)	FA2H, LOC130059394	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 406878	NM_024306.5(FA2H):c.94C>G (p.Arg32Gly)	FA2H, LOC130059394 (R32G)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1649911	NM_024306.5(FA2H):c.90G>A (p.Gly30=)	FA2H, LOC130059394	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1485917	NM_024306.5(FA2H):c.83G>A (p.Arg28His)	FA2H, LOC130059394 (R28H)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1219530	NM_024306.5(FA2H):c.82C>T (p.Arg28Cys)	FA2H, LOC130059394 (R28C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 853109	NM_024306.5(FA2H):c.80T>A (p.Val27Asp)	FA2H, LOC130059394 (V27D)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2153721	NM_024306.5(FA2H):c.77G>C (p.Trp26Ser)	FA2H, LOC130059394 (W26S)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 241465	NM_024306.5(FA2H):c.75_77del (p.Cys25del)	FA2H, LOC130059394 (C25del)	Deletion (inframe_deletion)	Spastic paraplegia	GUncertain significance
Select item 1709322	NM_024306.5(FA2H):c.75C>G (p.Cys25Trp)	FA2H, LOC130059394 (C25W)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 817062	NM_024306.5(FA2H):c.70dup (p.Ala24fs)	FA2H, LOC130059394 (A24fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1298668	NM_024306.5(FA2H):c.67G>C (p.Gly23Arg)	FA2H, LOC130059394 (G23R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 514153	NM_024306.5(FA2H):c.66C>G (p.Ala22=)	FA2H, LOC130059394	Single nucleotide variant (synonymous variant)	Spastic paraplegia +2 more	GLikely benign
Select item 1516846	NM_024306.5(FA2H):c.64G>A (p.Ala22Thr)	FA2H, LOC130059394 (A22T)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 655132	NM_024306.5(FA2H):c.50A>G (p.Gln17Arg)	FA2H, LOC130059394 (Q17R)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2698790	NM_024306.5(FA2H):c.45G>A (p.Glu15=)	LOC130059394, FA2H	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 447316	NM_024306.5(FA2H):c.43G>A (p.Glu15Lys)	FA2H, LOC130059394 (E15K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2184208	NM_024306.5(FA2H):c.38C>T (p.Pro13Leu)	FA2H, LOC130059394 (P13L)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2164021	NM_024306.5(FA2H):c.36G>T (p.Ser12=)	FA2H, LOC130059394	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 585853	NM_024306.5(FA2H):c.35C>T (p.Ser12Leu)	FA2H, LOC130059394 (S12L)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 2085825	NM_024306.5(FA2H):c.21C>G (p.Pro7=)	FA2H, LOC130059394	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1428218	NM_024306.5(FA2H):c.21C>A (p.Pro7=)	FA2H, LOC130059394	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GBenign
Select item 1073882	NM_024306.5(FA2H):c.21del (p.Ala8fs)	FA2H, LOC130059394 (A8fs)	Deletion (frameshift variant)	Spastic paraplegia	GPathogenic
Select item 995360	NM_024306.5(FA2H):c.20C>T (p.Pro7Leu)	FA2H, LOC130059394 (P7L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1396748	NM_024306.5(FA2H):c.17C>T (p.Pro6Leu)	FA2H, LOC130059394 (P6L)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2175300	NM_024306.5(FA2H):c.10G>T (p.Ala4Ser)	FA2H, LOC130059394 (A4S)	Single nucleotide variant (missense variant)	Spastic paraplegia	GBenign
Select item 458306	NM_024306.5(FA2H):c.2T>C (p.Met1Thr)	FA2H, LOC130059394 (M1T)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GPathogenic
Select item 1373656	NM_024306.5(FA2H):c.1A>G (p.Met1Val)	FA2H, LOC130059394 (M1V)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 35 +1 more	GPathogenic
Select item 3040848	NM_024306.5(FA2H):c.-1C>A	FA2H, LOC130059394	Single nucleotide variant (5 prime UTR variant)	FA2H-related disorder	GLikely benign
Select item 320502	NM_024306.4(FA2H):c.-74C>T	FA2H, LOC130059394	Single nucleotide variant	Hereditary spastic paraplegia 35	GUncertain significance
Select item 369127	NM_024306.4(FA2H):c.-84G>C	FA2H, LOC130059394	Single nucleotide variant	not provided +2 more	GBenign
Select item 1228756	NC_000016.10:g.74774853G>A	FA2H, LOC130059394	Single nucleotide variant	not provided	GBenign
Select item 1219845	NC_000016.10:g.74774863C>G	FA2H, LOC130059394	Single nucleotide variant	not provided	GLikely benign

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Items: 85