ClinVar for Gene (Select 5833) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3364807	NM_002861.5(PCYT2):c.1037T>A (p.Val346Asp)	PCYT2 (V268D +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341654	NM_148896.5(NPB):c.185C>T (p.Ala62Val)	LOC130061982, NPB +1 more (A62V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3305290	NM_002861.5(PCYT2):c.466G>A (p.Val156Ile)	PCYT2 (V78I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3305289	NM_002861.5(PCYT2):c.637G>A (p.Glu213Lys)	PCYT2 (E135K +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3300735	NM_148896.5(NPB):c.137G>A (p.Gly46Asp)	LOC130061982, NPB +1 more (G46D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3300734	NM_148896.5(NPB):c.91G>A (p.Gly31Arg)	LOC130061982, NPB +1 more (G31R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3256733	NM_002861.5(PCYT2):c.88T>G (p.Cys30Gly)	PCYT2, LOC130061984 (C30G)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia 82, autosomal recessive	GLikely pathogenic
Select item 3250982	NM_002861.5(PCYT2):c.729C>T (p.Pro243=)	PCYT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3243134	NC_000017.10:g.(?_79477716)_(80901020_?)dup	ACTG1, ALYREF +52 more	Duplication	not provided	GUncertain significance
Select item 3210519	NM_002861.5(PCYT2):c.937A>G (p.Ile313Val)	PCYT2 (I272V +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3210518	NM_002861.5(PCYT2):c.890T>G (p.Leu297Arg)	PCYT2 (L243R +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3210517	NM_002861.5(PCYT2):c.727C>T (p.Pro243Ser)	PCYT2 (P165S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3210516	NM_002861.5(PCYT2):c.77G>T (p.Trp26Leu)	LOC130061984, PCYT2 (W26L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3210515	NM_002861.5(PCYT2):c.318C>A (p.Asn106Lys)	PCYT2 (N74K +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3210514	NM_002861.5(PCYT2):c.20G>A (p.Gly7Glu)	LOC130061984, PCYT2 (G7E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3210513	NM_002861.5(PCYT2):c.181G>A (p.Glu61Lys)	PCYT2 (E29K +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3210511	NM_002861.5(PCYT2):c.1024A>G (p.Thr342Ala)	PCYT2 (T310A +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3210510	NM_002861.5(PCYT2):c.1001T>C (p.Ile334Thr)	PCYT2 (I280T +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3210509	NM_002861.5(PCYT2):c.958G>A (p.Asp320Asn)	PCYT2 (D279N +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3201555	NM_148896.5(NPB):c.247C>G (p.Leu83Val)	LOC130061982, NPB +1 more (L83V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201554	NM_148896.5(NPB):c.122C>G (p.Ala41Gly)	LOC130061982, NPB +1 more (A41G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3068607	NM_002861.5(PCYT2):c.781A>T (p.Lys261Ter)	PCYT2 (K183* +5 more)	Single nucleotide variant (nonsense)	Spastic paraplegia 82, autosomal recessive	GLikely pathogenic
Select item 3027448	NM_002861.5(PCYT2):c.683G>A (p.Gly228Glu)	PCYT2 (G150E +5 more)	Single nucleotide variant (missense variant)	Spastic paraplegia 82, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 3024150	NM_002861.5(PCYT2):c.689T>A (p.Val230Glu)	PCYT2 (V230E +5 more)	Single nucleotide variant (missense variant)	Spastic paraplegia 82, autosomal recessive	GPathogenic
Select item 3024149	NM_002861.5(PCYT2):c.1058+1G>A	PCYT2	Single nucleotide variant (splice donor variant)	Spastic paraplegia 82, autosomal recessive	GPathogenic
Select item 2685609	GRCh37/hg19 17q25.3(chr17:79128754-80092824)x1	AATK, ACTG1 +41 more	Copy number loss	not provided	GLikely pathogenic
Select item 2648473	NM_002861.5(PCYT2):c.120C>T (p.Asn40=)	PCYT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2648472	NM_002861.5(PCYT2):c.447C>T (p.Leu149=)	PCYT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648471	NM_002861.5(PCYT2):c.780G>A (p.Gly260=)	PCYT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648470	NM_002861.5(PCYT2):c.838-7C>T	PCYT2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2648469	NM_002861.5(PCYT2):c.870C>T (p.Tyr290=)	PCYT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648468	NM_002861.5(PCYT2):c.873G>A (p.Ala291=)	PCYT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2627104	NM_002861.5(PCYT2):c.969+5G>A	PCYT2	Single nucleotide variant (intron variant)	Spastic paraplegia 82, autosomal recessive	GLikely pathogenic
Select item 2619573	NM_002861.5(PCYT2):c.20G>C (p.Gly7Ala)	LOC130061984, PCYT2 (G7A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2618152	NM_002861.5(PCYT2):c.397G>A (p.Gly133Arg)	PCYT2 (G133R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615890	NM_148896.5(NPB):c.35T>C (p.Leu12Pro)	NPB, PCYT2 (L12P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597164	NM_002861.5(PCYT2):c.1092A>T (p.Glu364Asp)	PCYT2 (E364D +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2575242	NM_002861.5(PCYT2):c.682G>A (p.Gly228Arg)	PCYT2 (G150R +5 more)	Single nucleotide variant (missense variant)	Spastic paraplegia 82, autosomal recessive	GLikely pathogenic
Select item 2500196	NM_002861.5(PCYT2):c.903G>C (p.Lys301Asn)	PCYT2 (K223N +5 more)	Single nucleotide variant (missense variant)	Spastic paraplegia 82, autosomal recessive	GLikely pathogenic
Select item 2494358	NM_002861.5(PCYT2):c.1156G>A (p.Asp386Asn)	PCYT2 (D308N +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477272	NM_002861.5(PCYT2):c.1147G>T (p.Gly383Trp)	PCYT2 (G305W +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470995	NM_002861.5(PCYT2):c.68T>C (p.Val23Ala)	LOC130061984, PCYT2 (V23A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2455961	NM_148896.5(NPB):c.306C>A (p.Asp102Glu)	LOC130061982, NPB +1 more (D102E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2445210	Single allele	FOXK2, GCGR +51 more	Deletion	See cases	GPathogenic
Select item 2434618	NM_002861.5(PCYT2):c.175G>T (p.Asp59Tyr)	PCYT2 (D27Y +1 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia 82, autosomal recessive	GUncertain significance
Select item 2429559	NM_002861.5(PCYT2):c.1133C>T (p.Ala378Val)	PCYT2 (A300V +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2425656	NC_000017.10:g.(?_79618104)_(79894690_?)dup	ALYREF, ANAPC11 +17 more	Duplication	not provided	GUncertain significance
Select item 2424500	NC_000017.10:g.(?_79477716)_(80900339_?)dup	ACTG1, ALYREF +52 more	Duplication	not provided	GUncertain significance
Select item 2409260	NM_002861.5(PCYT2):c.137G>A (p.Arg46Gln)	PCYT2 (R46Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2406205	NM_148896.5(NPB):c.149C>T (p.Ser50Phe)	LOC130061982, NPB +1 more (S50F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373369	NM_002861.5(PCYT2):c.524_527del (p.Asp175fs)	PCYT2 (D175fs +4 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2348286	NM_148896.5(NPB):c.370G>A (p.Ala124Thr)	NPB, PCYT2 (A124T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345940	NM_002861.5(PCYT2):c.1132G>A (p.Ala378Thr)	PCYT2 (A300T +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343879	NM_148896.5(NPB):c.238C>A (p.Leu80Met)	LOC130061982, NPB +1 more (L80M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341939	NM_002861.5(PCYT2):c.995G>A (p.Arg332His)	PCYT2 (R254H +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335930	NM_002861.5(PCYT2):c.706G>A (p.Val236Met)	PCYT2 (V236M +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317275	NM_148896.5(NPB):c.58C>T (p.Pro20Ser)	NPB, PCYT2 (P20S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310188	NM_002861.5(PCYT2):c.836G>A (p.Arg279Gln)	PCYT2 (R201Q +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2308763	NM_148896.5(NPB):c.134C>G (p.Ser45Cys)	LOC130061982, NPB +1 more (S45C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295407	NM_002861.5(PCYT2):c.798G>T (p.Met266Ile)	PCYT2 (M188I +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283395	NM_002861.5(PCYT2):c.740C>T (p.Ala247Val)	PCYT2 (A215V +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266147	NM_002861.5(PCYT2):c.179-6T>A	PCYT2	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2266145	NM_002861.5(PCYT2):c.179-4del	PCYT2	Deletion (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2249192	NM_148896.5(NPB):c.143G>A (p.Arg48His)	LOC130061982, NPB +1 more (R48H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226674	NM_002861.5(PCYT2):c.46G>A (p.Gly16Ser)	LOC130061984, PCYT2 (G16S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2223530	NM_002861.5(PCYT2):c.872C>T (p.Ala291Val)	PCYT2 (A213V +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1879388	NM_002861.5(PCYT2):c.143T>C (p.Met48Thr)	PCYT2 (M16T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1712594	NM_002861.5(PCYT2):c.537+311dup	PCYT2 (P126fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	EVPL, EXOC7 +146 more	Copy number gain	not provided	GPathogenic
Select item 1700761	NM_002861.5(PCYT2):c.71G>C (p.Arg24Thr)	LOC130061984, PCYT2 (R24T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1334726	NM_002861.5(PCYT2):c.551G>A (p.Arg184Gln)	PCYT2 (R106Q +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1329485	NM_002861.5(PCYT2):c.555C>A (p.Asn185Lys)	PCYT2 (N107K +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1329483	NM_002861.5(PCYT2):c.1009G>A (p.Gly337Ser)	PCYT2 (G259S +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1319174	NM_002861.5(PCYT2):c.313T>C (p.Tyr105His)	PCYT2 (Y105H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1268709	NM_002861.5(PCYT2):c.*79C>T	PCYT2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1267268	NM_002861.5(PCYT2):c.*105G>C	PCYT2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1263424	NM_002861.5(PCYT2):c.760-30C>T	PCYT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262850	NM_002861.5(PCYT2):c.677-5T>C	PCYT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261376	NM_002861.5(PCYT2):c.407+21T>C	PCYT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248459	NM_002861.5(PCYT2):c.1059-4T>C	PCYT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226315	NM_002861.5(PCYT2):c.1058+60G>C	PCYT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 812573	NM_002861.5(PCYT2):c.1075C>T (p.Arg359Ter)	PCYT2 (R377* +6 more)	Single nucleotide variant (nonsense)	Spastic paraplegia 82, autosomal recessive +1 more	GPathogenic/Likely pathogenic
Select item 812572	NM_002861.5(PCYT2):c.676C>T (p.His226Tyr)	PCYT2 (H148Y +5 more)	Single nucleotide variant (missense variant)	Spastic paraplegia 82, autosomal recessive	GPathogenic
Select item 812571	NM_002861.5(PCYT2):c.866C>T (p.Pro289Leu)	PCYT2 (P211L +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 777258	NM_002861.5(PCYT2):c.558C>T (p.Pro186=)	PCYT2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 770274	NM_002861.5(PCYT2):c.1058+7T>C	PCYT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 687727	GRCh37/hg19 17q25.3(chr17:78608912-81041938)x3	AATK, ACTG1 +65 more	Copy number gain	not provided	GPathogenic
Select item 687520	GRCh37/hg19 17q25.3(chr17:79663313-80197463)x3	ALYREF, ANAPC11 +26 more	Copy number gain	not provided	GUncertain significance
Select item 564476	GRCh37/hg19 17q25.3(chr17:76552611-81041938)x3	AATK, ACTG1 +88 more	Copy number gain	not provided	GLikely pathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443446	GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3	AANAT, AATK +128 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 154540	GRCh38/hg38 17q25.3(chr17:81859688-82017612)x1	ALYREF, ANAPC11 +40 more	Copy number loss	See cases	GBenign
Select item 153720	GRCh38/hg38 17q25.3(chr17:81401966-83084062)x1	ACTG1, ALYREF +226 more	Copy number loss	See cases	GLikely pathogenic
Select item 149717	GRCh38/hg38 17q25.3(chr17:81008196-83102584)x3	AATK, ACTG1 +262 more	Copy number gain	See cases	GPathogenic

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