FA2H[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059149, LOC130059150 +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	LOC130059618, LOC130059619 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	AARS1, ACD +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059185, LOC130059186 +869 more	Copy number gain	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	AARS1, ADAMTS18 +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	HSBP1, HSD17B2 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	LOC126862439, LOC126862440 +1031 more	Copy number gain	See cases	GPathogenic
Select item 59515	GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1	ADAMTS18, ADAT1 +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 31625	NG_017070.1:g.(39810_52446)_(66877_?)del	FA2H, LOC132090400	Deletion	Hereditary spastic paraplegia 35	GPathogenic
Select item 320463	NM_024306.5(FA2H):c.*1188A>G	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 320464	NM_024306.5(FA2H):c.*1131A>C	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GBenign
Select item 320465	NM_024306.5(FA2H):c.*1129G>A	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GBenign
Select item 885528	NM_024306.5(FA2H):c.*1074G>A	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 320466	NM_024306.5(FA2H):c.*1064C>G	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GBenign
Select item 320467	NM_024306.5(FA2H):c.*958C>T	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GLikely benign
Select item 320468	NM_024306.5(FA2H):c.*911C>A	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 320469	NM_024306.5(FA2H):c.*887T>A	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 886553	NM_024306.5(FA2H):c.*885G>T	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 320470	NM_024306.5(FA2H):c.*821C>G	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GLikely benign
Select item 320471	NM_024306.5(FA2H):c.*813C>T	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GLikely benign
Select item 320472	NM_024306.5(FA2H):c.*783G>A	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GLikely benign
Select item 320473	NM_024306.5(FA2H):c.*772C>A	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 320474	NM_024306.5(FA2H):c.*653G>A	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 320475	NM_024306.5(FA2H):c.*652C>T	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 320476	NM_024306.5(FA2H):c.*646T>G	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 320477	NM_024306.5(FA2H):c.*637G>C	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GBenign
Select item 320478	NM_024306.5(FA2H):c.*520G>A	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GLikely benign
Select item 320479	NM_024306.5(FA2H):c.*506C>G	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 887808	NM_024306.5(FA2H):c.*505G>T	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 320480	NM_024306.5(FA2H):c.*447C>T	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 320481	NM_024306.5(FA2H):c.*404T>A	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GBenign
Select item 320482	NM_024306.5(FA2H):c.*391C>T	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 320483	NM_024306.5(FA2H):c.*302G>A	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 320484	NM_024306.5(FA2H):c.*283G>C	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35 +1 more	GBenign
Select item 320485	NM_024306.5(FA2H):c.*281C>A	FA2H	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 320486	NM_024306.5(FA2H):c.*253A>G	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 320487	NM_024306.5(FA2H):c.*243G>A	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35 +1 more	GBenign
Select item 885598	NM_024306.5(FA2H):c.*185G>T	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 885599	NM_024306.5(FA2H):c.*165G>A	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 320488	NM_024306.5(FA2H):c.*150C>T	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 320489	NM_024306.5(FA2H):c.*62G>A	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 885600	NM_024306.5(FA2H):c.*59C>G	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 320490	NM_024306.5(FA2H):c.*34G>A	FA2H	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 210968	NM_024306.5(FA2H):c.*6C>G	FA2H	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 807415	NM_024306.5(FA2H):c.1119A>T (p.Ter373Cys)	FA2H	Single nucleotide variant (stop lost)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2036748	NM_024306.5(FA2H):c.1113G>A (p.Thr371=)	FA2H	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 320491	NM_024306.5(FA2H):c.1113G>C (p.Thr371=)	FA2H	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 444377	NM_024306.5(FA2H):c.1112C>T (p.Thr371Met)	FA2H (T371M)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 1989785	NM_024306.5(FA2H):c.1104C>T (p.His368=)	FA2H	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 935175	NM_024306.5(FA2H):c.1101_1102del (p.His368fs)	FA2H (H368fs)	Deletion (frameshift variant)	Spastic paraplegia	GUncertain significance
Select item 886623	NM_024306.5(FA2H):c.1101C>G (p.Pro367=)	FA2H	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 1507430	NM_024306.5(FA2H):c.1093G>C (p.Glu365Gln)	FA2H (E365Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 320492	NM_024306.5(FA2H):c.1087A>C (p.Thr363Pro)	FA2H (T363P)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 1637292	NM_024306.5(FA2H):c.1086C>T (p.Leu362=)	FA2H	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1448685	NM_024306.5(FA2H):c.1084C>T (p.Leu362Phe)	FA2H (L362F)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 781325	NM_024306.5(FA2H):c.1083C>T (p.Thr361=)	FA2H	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1597630	NM_024306.5(FA2H):c.1071C>T (p.Tyr357=)	FA2H	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 773950	NM_024306.5(FA2H):c.1060T>C (p.Leu354=)	FA2H	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GLikely benign
Select item 528011	NM_024306.5(FA2H):c.1055C>T (p.Thr352Ile)	FA2H (T352I)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2151829	NM_024306.5(FA2H):c.1040-5T>G	FA2H	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2161624	NM_024306.5(FA2H):c.1040-18G>A	FA2H	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 1238784	NM_024306.5(FA2H):c.1040-178A>G	FA2H	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246791	NM_024306.5(FA2H):c.1039+242G>A	FA2H	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222018	NM_024306.5(FA2H):c.1039+103G>T	FA2H	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2814346	NM_024306.5(FA2H):c.1039+18C>T	FA2H	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 383661	NM_024306.5(FA2H):c.1039+16T>G	FA2H	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2051331	NM_024306.5(FA2H):c.1039+14T>G	FA2H	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2414003	NM_024306.5(FA2H):c.1039+11G>A	FA2H	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 129027	NM_024306.5(FA2H):c.1039+8T>C	FA2H	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 35 +3 more	GBenign
Select item 1057397	NM_024306.5(FA2H):c.1036T>G (p.Ser346Ala)	FA2H (S346A)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 3091498	NM_024306.5(FA2H):c.1033A>C (p.Lys345Gln)	FA2H (K345Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 320493	NM_024306.5(FA2H):c.1032G>C (p.Gln344His)	FA2H (Q344H)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 35 +1 more	GUncertain significance
Select item 320494	NM_024306.5(FA2H):c.1030C>G (p.Gln344Glu)	FA2H (Q344E)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GUncertain significance
Select item 1006280	NM_024306.5(FA2H):c.1028A>G (p.His343Arg)	FA2H (H343R)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 967482	NM_024306.5(FA2H):c.1027C>T (p.His343Tyr)	FA2H (H343Y)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 3069165	NM_024306.5(FA2H):c.1023T>A (p.Phe341Leu)	FA2H (F341L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 1693663	NM_024306.5(FA2H):c.1009G>A (p.Val337Ile)	FA2H (V337I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2108527	NM_024306.5(FA2H):c.1008C>T (p.His336=)	FA2H	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2780414	NM_024306.5(FA2H):c.977G>T (p.Gly326Val)	FA2H (G326V)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2145801	NM_024306.5(FA2H):c.970C>T (p.His324Tyr)	FA2H (H324Y)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2853431	NM_024306.5(FA2H):c.969G>T (p.Pro323=)	FA2H	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 697344	NM_024306.5(FA2H):c.969G>A (p.Pro323=)	FA2H	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 807416	NM_024306.5(FA2H):c.968C>T (p.Pro323Leu)	FA2H (P323L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 35 +1 more	GPathogenic
Select item 3052549	NM_024306.5(FA2H):c.966G>A (p.Ser322=)	FA2H	Single nucleotide variant (synonymous variant)	FA2H-related disorder	GLikely benign
Select item 961888	NM_024306.5(FA2H):c.965C>T (p.Ser322Leu)	FA2H (S322L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 35 +3 more	GConflicting classifications of pathogenicity
Select item 1359235	NM_024306.5(FA2H):c.957C>G (p.His319Gln)	FA2H (H319Q)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1344335	NM_024306.5(FA2H):c.956A>G (p.His319Arg)	FA2H (H319R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 812781	NM_024306.5(FA2H):c.949T>G (p.Tyr317Asp)	FA2H (Y317D)	Single nucleotide variant (missense variant)	Tip-toe gait +1 more	GLikely pathogenic
Select item 1041793	NM_024306.5(FA2H):c.941_945del (p.Thr314fs)	FA2H (T314fs)	Deletion (frameshift variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 2195858	NM_024306.5(FA2H):c.939G>T (p.Met313Ile)	FA2H (M313I)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 617530	NM_024306.5(FA2H):c.934G>T (p.Asp312Tyr)	FA2H (D312Y)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 35	GLikely pathogenic

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