ClinVar for Gene (Select 84695) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3349579	NM_032603.5(LOXL3):c.202A>T (p.Thr68Ser)	DOK1, LOXL3 (T68S)	Single nucleotide variant (missense variant +1 more)	LOXL3-related disorder	GUncertain significance
Select item 3348830	NM_032603.5(LOXL3):c.765C>A (p.Leu255=)	LOXL3	Single nucleotide variant (synonymous variant +1 more)	LOXL3-related disorder	GLikely benign
Select item 3343332	NM_032603.5(LOXL3):c.2010C>A (p.Tyr670Ter)	LOXL3 (Y309* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
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 3291119	NM_032603.5(LOXL3):c.1322G>A (p.Arg441His)	LOXL3 (R441H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291118	NM_032603.5(LOXL3):c.1789G>A (p.Gly597Arg)	LOXL3 (G452R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291117	NM_032603.5(LOXL3):c.376T>G (p.Ser126Ala)	DOK1, LOXL3 (S126A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291116	NM_032603.5(LOXL3):c.22C>A (p.Gln8Lys)	DOK1, LOXL3 (Q8K)	Single nucleotide variant (missense variant +1 more)	not specified	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 3273443	NM_001381.5(DOK1):c.445A>G (p.Thr149Ala)	DOK1, LOXL3 (T10A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119641	NM_032603.5(LOXL3):c.874G>A (p.Gly292Ser)	LOXL3 (G292S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119640	NM_032603.5(LOXL3):c.670A>G (p.Arg224Gly)	LOXL3, DOK1 (R224G)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3119639	NM_032603.5(LOXL3):c.1726C>T (p.Arg576Cys)	LOXL3 (R431C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119638	NM_032603.5(LOXL3):c.163G>A (p.Glu55Lys)	DOK1, LOXL3 (E55K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119637	NM_032603.5(LOXL3):c.1471C>T (p.Arg491Cys)	LOXL3 (R346C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085158	NM_001381.5(DOK1):c.382C>T (p.Pro128Ser)	DOK1, LOXL3 (P128S +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3062659	GRCh37/hg19 2p13.3-12(chr2:71076472-76368354)x1	ACTG2, ALMS1 +60 more	Copy number loss	not specified	GLikely pathogenic
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 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 3031022	NM_032603.5(LOXL3):c.762C>G (p.His254Gln)	LOXL3 (H254Q)	Single nucleotide variant (missense variant +1 more)	LOXL3-related disorder	GUncertain significance
Select item 3030719	NM_032603.5(LOXL3):c.658C>T (p.Pro220Ser)	DOK1, LOXL3 (P220S)	Single nucleotide variant (5 prime UTR variant +2 more)	LOXL3-related disorder	GUncertain significance
Select item 3023230	NM_032603.5(LOXL3):c.1556C>T (p.Thr519Ile)	LOXL3 (T158I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3022855	NM_032603.5(LOXL3):c.12C>T (p.Val4=)	DOK1, LOXL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3017835	NM_032603.5(LOXL3):c.1957G>A (p.Glu653Lys)	LOXL3 (E653K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3010241	NM_032603.5(LOXL3):c.1185T>C (p.Asp395=)	LOXL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002855	NM_032603.5(LOXL3):c.1824-27_1824-18del	LOXL3	Deletion (intron variant)	not provided	GLikely benign
Select item 2994438	NM_032603.5(LOXL3):c.1579+20A>G	LOXL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993975	NM_032603.5(LOXL3):c.913-19G>C	LOXL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993565	NM_032603.5(LOXL3):c.1579+16G>A	LOXL3	Single nucleotide variant (intron variant)	not provided	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 2991125	NM_032603.5(LOXL3):c.1580-18C>T	LOXL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991110	NM_032603.5(LOXL3):c.1857T>C (p.Tyr619=)	LOXL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990053	NM_032603.5(LOXL3):c.1579+19G>A	LOXL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987900	NM_032603.5(LOXL3):c.1249-12G>T	LOXL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987878	NM_032603.5(LOXL3):c.1779G>A (p.Arg593=)	LOXL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986993	NM_032603.5(LOXL3):c.1940-17T>C	LOXL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985748	NM_032603.5(LOXL3):c.1580-19C>T	LOXL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982877	NM_032603.5(LOXL3):c.744C>T (p.Cys248=)	LOXL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2978956	NM_032603.5(LOXL3):c.864G>A (p.Ala288=)	LOXL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2976273	NM_032603.5(LOXL3):c.478-16G>T	DOK1, LOXL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975796	NM_032603.5(LOXL3):c.375C>T (p.Ala125=)	DOK1, LOXL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2974401	NM_032603.5(LOXL3):c.1249-11T>C	LOXL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971039	NM_032603.5(LOXL3):c.1417-2A>G	LOXL3	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2968440	NM_032603.5(LOXL3):c.825C>G (p.Gly275=)	LOXL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2967009	NM_032603.5(LOXL3):c.477+11C>T	DOK1, LOXL3	Single nucleotide variant (intron variant)	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 2957197	NM_032603.5(LOXL3):c.381G>A (p.Arg127=)	DOK1, LOXL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2915941	NM_032603.5(LOXL3):c.1580-11_1580-8del	LOXL3	Deletion (intron variant)	not provided	GLikely benign
Select item 2910806	NM_032603.5(LOXL3):c.39G>A (p.Gly13=)	DOK1, LOXL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2899523	NM_032603.5(LOXL3):c.1041G>A (p.Glu347=)	LOXL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2899141	NM_032603.5(LOXL3):c.162C>T (p.Tyr54=)	DOK1, LOXL3	Single nucleotide variant (synonymous variant +1 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 2889228	NM_032603.5(LOXL3):c.75G>A (p.Gly25=)	DOK1, LOXL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2875936	NM_032603.5(LOXL3):c.1594T>C (p.Leu532=)	LOXL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2870084	NM_032603.5(LOXL3):c.483G>A (p.Glu161=)	DOK1, LOXL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2866717	NM_032603.5(LOXL3):c.939C>A (p.Ala313=)	LOXL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2859614	NM_032603.5(LOXL3):c.2262A>G (p.Ter754=)	LOXL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2840968	NM_032603.5(LOXL3):c.1761G>A (p.Leu587=)	LOXL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2839565	NM_032603.5(LOXL3):c.1356C>A (p.Thr452=)	LOXL3	Single nucleotide variant (synonymous variant)	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 2838000	NM_032603.5(LOXL3):c.2076+17G>C	LOXL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2836737	NM_032603.5(LOXL3):c.201C>T (p.Gly67=)	DOK1, LOXL3	Single nucleotide variant (synonymous variant +1 more)	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 2827768	NM_032603.5(LOXL3):c.481G>C (p.Glu161Gln)	DOK1, LOXL3 (E161Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2820140	NM_032603.5(LOXL3):c.1933C>T (p.Gln645Ter)	LOXL3 (Q284* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2816314	NM_032603.5(LOXL3):c.1608A>T (p.Ala536=)	LOXL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2815410	NM_032603.5(LOXL3):c.2154T>C (p.Asp718=)	LOXL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2813851	NM_032603.5(LOXL3):c.2058A>C (p.Pro686=)	LOXL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2806816	NM_032603.5(LOXL3):c.1094-13C>T	LOXL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2802440	NM_032603.5(LOXL3):c.1404C>T (p.Asn468=)	LOXL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2802128	NM_032603.5(LOXL3):c.1579+15G>C	LOXL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2801687	NM_032603.5(LOXL3):c.1332C>T (p.Leu444=)	LOXL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2801359	NM_032603.5(LOXL3):c.1668G>C (p.Ala556=)	LOXL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2800733	NM_032603.5(LOXL3):c.824G>T (p.Gly275Val)	LOXL3 (G275V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2800500	NM_032603.5(LOXL3):c.1207G>A (p.Gly403Arg)	LOXL3 (G258R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2798912	NM_032603.5(LOXL3):c.1095C>T (p.Gly365=)	LOXL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2798251	NM_032603.5(LOXL3):c.258G>A (p.Leu86=)	DOK1, LOXL3	Single nucleotide variant (synonymous 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 2797084	NM_032603.5(LOXL3):c.1869C>T (p.Thr623=)	LOXL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2796029	NM_032603.5(LOXL3):c.1125C>T (p.Arg375=)	LOXL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2790465	NM_032603.5(LOXL3):c.1917C>T (p.Leu639=)	LOXL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2788503	NM_032603.5(LOXL3):c.1417-6C>T	LOXL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2782690	NM_032603.5(LOXL3):c.1940-19C>T	LOXL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2782689	NM_032603.5(LOXL3):c.1940-14del	LOXL3	Deletion (intron 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 2782349	NM_032603.5(LOXL3):c.594G>T (p.Ser198=)	DOK1, LOXL3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2780685	NM_032603.5(LOXL3):c.913-19G>A	LOXL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2772992	NM_032603.5(LOXL3):c.755A>G (p.Glu252Gly)	LOXL3 (E252G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2770694	NM_032603.5(LOXL3):c.989C>T (p.Thr330Ile)	LOXL3 (T330I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2768033	NM_032603.5(LOXL3):c.1580-18C>G	LOXL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2765719	NM_032603.5(LOXL3):c.1692A>G (p.Ser564=)	LOXL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2758912	NM_032603.5(LOXL3):c.477+18A>T	DOK1, LOXL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2752074	NM_032603.5(LOXL3):c.2223T>C (p.Phe741=)	LOXL3	Single nucleotide variant (synonymous variant)	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 2746891	NM_032603.5(LOXL3):c.1093+9G>C	LOXL3	Single nucleotide variant (intron variant)	not provided	GLikely benign

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