84695[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 155389	GRCh38/hg38 2p13.1-12(chr2:74375779-75517520)x1	AUP1, C2orf81 +86 more	Copy number loss	See cases	GLikely pathogenic
Select item 147468	GRCh38/hg38 2p13.1-12(chr2:74432069-75181627)x3	AUP1, CCDC142 +66 more	Copy number gain	See cases	GUncertain significance
Select item 1296504	NM_013247.5(HTRA2):c.1116-23T>C	HTRA2, LOXL3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1898646	NM_013247.5(HTRA2):c.1116-19G>A	HTRA2, LOXL3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1917286	NM_013247.5(HTRA2):c.1116-12G>A	HTRA2, LOXL3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1935845	NM_013247.5(HTRA2):c.1116-10G>A	HTRA2, LOXL3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2749044	NM_013247.5(HTRA2):c.1116-8A>C	HTRA2, LOXL3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 337136	NM_013247.5(HTRA2):c.1131A>G (p.Leu377=)	HTRA2, LOXL3	Single nucleotide variant (synonymous variant +3 more)	Parkinson disease 13, autosomal dominant, susceptibility to +1 more	GConflicting classifications of pathogenicity
Select item 1455851	NM_013247.5(HTRA2):c.1138C>T (p.Arg380Ter)	HTRA2, LOXL3 (R380*)	Single nucleotide variant (nonsense +3 more)	not provided +1 more	GPathogenic
Select item 337137	NM_013247.5(HTRA2):c.1155C>T (p.Pro385=)	HTRA2, LOXL3	Single nucleotide variant (synonymous variant +3 more)	Parkinson disease 13, autosomal dominant, susceptibility to +1 more	GLikely benign
Select item 3338218	NM_013247.5(HTRA2):c.1156G>T (p.Asp386Tyr)	HTRA2, LOXL3 (D386Y)	Single nucleotide variant (missense variant +3 more)	Autism	GUncertain significance
Select item 1985758	NM_013247.5(HTRA2):c.1156G>A (p.Asp386Asn)	HTRA2, LOXL3 (D386N)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1948493	NM_013247.5(HTRA2):c.1158T>C (p.Asp386=)	HTRA2, LOXL3	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2581718	NM_013247.5(HTRA2):c.1172T>A (p.Val391Glu)	HTRA2, LOXL3 (V391E)	Single nucleotide variant (missense variant +3 more)	Leigh syndrome	GUncertain significance
Select item 3032948	NM_013247.5(HTRA2):c.1182T>C (p.His394=)	HTRA2, LOXL3	Single nucleotide variant (synonymous variant +3 more)	HTRA2-related disorder	GLikely benign
Select item 1942108	NM_013247.5(HTRA2):c.1183A>T (p.Lys395Ter)	HTRA2, LOXL3 (K395*)	Single nucleotide variant (nonsense +3 more)	not provided	GUncertain significance
Select item 2863423	NM_013247.5(HTRA2):c.1191C>T (p.Ile397=)	HTRA2, LOXL3	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 4341	NM_013247.5(HTRA2):c.1195G>A (p.Gly399Ser)	HTRA2, LOXL3 (G399S)	Single nucleotide variant (missense variant +3 more)	Parkinson disease 13, autosomal dominant, susceptibility to +1 more	GBenign/Likely benign
Select item 493282	NM_013247.5(HTRA2):c.1210C>T (p.Arg404Trp)	LOXL3, HTRA2 (R404W)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GUncertain significance
Select item 372209	NM_013247.5(HTRA2):c.1211G>A (p.Arg404Gln)	HTRA2, LOXL3 (R404Q)	Single nucleotide variant (missense variant +3 more)	not provided	GPathogenic
Select item 1612429	NM_013247.5(HTRA2):c.1211+11G>C	HTRA2, LOXL3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2101083	NM_013247.5(HTRA2):c.1211+12G>T	HTRA2, LOXL3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2966217	NM_013247.5(HTRA2):c.1211+15G>A	HTRA2, LOXL3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2873515	NM_013247.5(HTRA2):c.1211+16C>T	HTRA2, LOXL3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2838021	NM_013247.5(HTRA2):c.1211+18G>T	HTRA2, LOXL3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1642990	NM_013247.5(HTRA2):c.1212-17T>C	HTRA2, LOXL3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2797208	NM_013247.5(HTRA2):c.1212-15C>T	HTRA2, LOXL3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1633244	NM_013247.5(HTRA2):c.1212-15C>A	HTRA2, LOXL3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1602707	NM_013247.5(HTRA2):c.1212-4A>G	HTRA2, LOXL3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3384181	NM_013247.5(HTRA2):c.1216G>T (p.Gly406Cys)	HTRA2, LOXL3 (G309C +3 more)	Single nucleotide variant (missense variant +2 more)	3-methylglutaconic aciduria type 8	GLikely pathogenic
Select item 1382224	NM_013247.5(HTRA2):c.1223G>A (p.Arg408Gln)	HTRA2, LOXL3 (R311Q +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1109463	NM_013247.5(HTRA2):c.1224G>C (p.Arg408=)	HTRA2, LOXL3	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2895112	NM_013247.5(HTRA2):c.1225C>T (p.Pro409Ser)	HTRA2, LOXL3 (P387S +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1354929	NM_013247.5(HTRA2):c.1229G>C (p.Gly410Ala)	HTRA2, LOXL3 (G313A +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2185155	NM_013247.5(HTRA2):c.1243G>A (p.Ala415Thr)	HTRA2, LOXL3 (A393T +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1953314	NM_013247.5(HTRA2):c.1258A>G (p.Met420Val)	HTRA2, LOXL3 (M388V +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1370943	NM_013247.5(HTRA2):c.1270G>A (p.Ala424Thr)	HTRA2, LOXL3 (A327T +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 727542	NM_013247.5(HTRA2):c.1278T>C (p.Asp426=)	HTRA2, LOXL3	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1382328	NM_013247.5(HTRA2):c.1285G>A (p.Glu429Lys)	HTRA2, LOXL3 (E407K +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1385413	NM_013247.5(HTRA2):c.1294C>T (p.Arg432Ter)	HTRA2, LOXL3 (R400* +3 more)	Single nucleotide variant (nonsense +2 more)	not provided	GUncertain significance
Select item 372210	NM_013247.5(HTRA2):c.1316_1320del (p.Val439fs)	HTRA2, LOXL3 (V407fs +3 more)	Deletion (frameshift variant +2 more)	3-methylglutaconic aciduria type 8	GPathogenic
Select item 2807832	NM_013247.5(HTRA2):c.1314A>G (p.Ala438=)	HTRA2, LOXL3	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2012356	NM_013247.5(HTRA2):c.1318C>T (p.Gln440Ter)	HTRA2, LOXL3 (Q343* +3 more)	Single nucleotide variant (nonsense +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 1393366	NM_013247.5(HTRA2):c.1333C>T (p.Arg445Ter)	HTRA2, LOXL3 (R423* +3 more)	Single nucleotide variant (nonsense +2 more)	not provided	GUncertain significance
Select item 2421717	NM_013247.5(HTRA2):c.1334G>A (p.Arg445Gln)	HTRA2, LOXL3 (R348Q +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2875498	NM_013247.5(HTRA2):c.1341A>G (p.Thr447=)	HTRA2, LOXL3	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 337138	NM_013247.5(HTRA2):c.1346C>T (p.Thr449Ile)	HTRA2, LOXL3 (T449I +3 more)	Single nucleotide variant (missense variant +2 more)	Parkinson disease 13, autosomal dominant, susceptibility to +1 more	GUncertain significance
Select item 3039120	NM_013247.5(HTRA2):c.1362T>A (p.Pro454=)	HTRA2, LOXL3	Single nucleotide variant (synonymous variant +2 more)	HTRA2-related disorder	GLikely benign
Select item 2993083	NM_013247.5(HTRA2):c.1362T>C (p.Pro454=)	HTRA2, LOXL3	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1372351	NM_013247.5(HTRA2):c.1365G>A (p.Glu455=)	HTRA2, LOXL3	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 1695758	NM_013247.5(HTRA2):c.1366G>A (p.Val456Ile)	HTRA2, LOXL3 (V359I +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 337139	NM_013247.5(HTRA2):c.*94C>T	HTRA2, LOXL3	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to +1 more	GBenign
Select item 337140	NM_013247.5(HTRA2):c.*249G>C	HTRA2, LOXL3	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GUncertain significance
Select item 896084	NM_013247.5(HTRA2):c.*265C>T	HTRA2, LOXL3	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GUncertain significance
Select item 897673	NM_013247.5(HTRA2):c.*267C>T	HTRA2, LOXL3	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GUncertain significance
Select item 337141	NM_013247.5(HTRA2):c.*291G>A	HTRA2, LOXL3	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GUncertain significance
Select item 337142	NM_013247.4(HTRA2):c.*384C>A	HTRA2, LOXL3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 337143	NM_013247.4(HTRA2):c.*443T>A	HTRA2, LOXL3	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GBenign
Select item 337144	NM_013247.4(HTRA2):c.*513T>A	HTRA2, LOXL3	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GUncertain significance
Select item 337145	NM_013247.4(HTRA2):c.*531A>G	HTRA2, LOXL3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 337146	NM_013247.4(HTRA2):c.*537G>A	LOXL3, HTRA2	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GUncertain significance
Select item 2859614	NM_032603.5(LOXL3):c.2262A>G (p.Ter754=)	LOXL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1903038	NM_032603.5(LOXL3):c.2259C>G (p.Ile753Met)	LOXL3 (I392M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2392713	NM_032603.5(LOXL3):c.2251C>A (p.Gln751Lys)	LOXL3 (Q751K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283102	NM_032603.5(LOXL3):c.2233C>G (p.Pro745Ala)	LOXL3 (P745A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2752074	NM_032603.5(LOXL3):c.2223T>C (p.Phe741=)	LOXL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2040869	NM_032603.5(LOXL3):c.2223T>A (p.Phe741Leu)	LOXL3 (F380L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1521276	NM_032603.5(LOXL3):c.2222T>A (p.Phe741Tyr)	LOXL3 (F741Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3291115	NM_032603.5(LOXL3):c.2203G>A (p.Glu735Lys)	LOXL3 (E374K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2712450	NM_032603.5(LOXL3):c.2202T>C (p.Ser734=)	LOXL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2782391	NM_032603.5(LOXL3):c.2189-8C>T	LOXL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1640421	NM_032603.5(LOXL3):c.2188+15G>A	LOXL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1977884	NM_032603.5(LOXL3):c.2188+12del	LOXL3	Deletion (intron variant)	not provided	GUncertain significance
Select item 2043905	NM_032603.5(LOXL3):c.2188+1G>A	LOXL3	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1489905	NM_032603.5(LOXL3):c.2186T>C (p.Ile729Thr)	LOXL3 (I584T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2701776	NM_032603.5(LOXL3):c.2174A>C (p.His725Pro)	LOXL3 (H580P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1422569	NM_032603.5(LOXL3):c.2170G>A (p.Val724Met)	LOXL3 (V724M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2815410	NM_032603.5(LOXL3):c.2154T>C (p.Asp718=)	LOXL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2288819	NM_032603.5(LOXL3):c.2152G>A (p.Asp718Asn)	LOXL3 (D718N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1480995	NM_032603.5(LOXL3):c.2134A>C (p.Lys712Gln)	LOXL3 (K351Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1501848	NM_032603.5(LOXL3):c.2126A>G (p.Asn709Ser)	LOXL3 (N564S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1961279	NM_032603.5(LOXL3):c.2120C>T (p.Thr707Ile)	LOXL3 (T562I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2122870	NM_032603.5(LOXL3):c.2112T>C (p.Ser704=)	LOXL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2830671	NM_032603.5(LOXL3):c.2109G>A (p.Glu703=)	LOXL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1348789	NM_032603.5(LOXL3):c.2107G>A (p.Glu703Lys)	LOXL3 (E342K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1659402	NM_032603.5(LOXL3):c.2077-17C>G	LOXL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2838000	NM_032603.5(LOXL3):c.2076+17G>C	LOXL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1989722	NM_032603.5(LOXL3):c.2076+16G>A	LOXL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1971802	NM_032603.5(LOXL3):c.2076+15G>A	LOXL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1906592	NM_032603.5(LOXL3):c.2076+11T>A	LOXL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1977203	NM_032603.5(LOXL3):c.2076+8G>A	LOXL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1632815	NM_032603.5(LOXL3):c.2064C>T (p.Asn688=)	LOXL3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2813851	NM_032603.5(LOXL3):c.2058A>C (p.Pro686=)	LOXL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2122581	NM_032603.5(LOXL3):c.2050G>A (p.Val684Met)	LOXL3 (V684M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2707359	NM_032603.5(LOXL3):c.2046G>A (p.Thr682=)	LOXL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1449241	NM_032603.5(LOXL3):c.2045C>T (p.Thr682Met)	LOXL3 (T321M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 189323	NM_032603.5(LOXL3):c.2027G>A (p.Cys676Tyr)	LOXL3 (C676Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2474044	NM_032603.5(LOXL3):c.2021T>C (p.Ile674Thr)	LOXL3 (I313T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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