Related gene-specific medical variations for Gene (Select 84695) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3539064	NM_032603.5(LOXL3):c.380G>A (p.Arg127Gln)	DOK1, LOXL3 (R127Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3539061	NM_032603.5(LOXL3):c.112G>A (p.Gly38Arg)	DOK1, LOXL3 (G38R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3539060	NM_032603.5(LOXL3):c.103A>C (p.Lys35Gln)	DOK1, LOXL3 (K35Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3504632	NM_001381.5(DOK1):c.257C>T (p.Ala86Val)	DOK1, LOXL3 (A75V +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3504631	NM_001381.5(DOK1):c.417G>C (p.Glu139Asp)	DOK1, LOXL3 (E128D +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
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 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 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 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 3119640	NM_032603.5(LOXL3):c.670A>G (p.Arg224Gly)	DOK1, LOXL3 (R224G)	Single nucleotide variant (5 prime UTR variant +2 more)	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 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 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 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 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 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 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 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 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 2899141	NM_032603.5(LOXL3):c.162C>T (p.Tyr54=)	LOXL3, DOK1	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 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 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 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 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 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 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 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 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 2758912	NM_032603.5(LOXL3):c.477+18A>T	DOK1, LOXL3	Single nucleotide variant (intron 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 2723171	NM_032603.5(LOXL3):c.4C>A (p.Arg2=)	DOK1, LOXL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2712435	NM_032603.5(LOXL3):c.153_183del (p.Arg51fs)	DOK1, LOXL3 (R51fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2651077	NM_001381.5(DOK1):c.17T>C (p.Met6Thr)	LOXL3, DOK1 +1 more (M6T)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
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 2531901	NM_032603.5(LOXL3):c.25T>C (p.Trp9Arg)	DOK1, LOXL3 (W9R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526921	NM_032603.5(LOXL3):c.17T>C (p.Val6Ala)	DOK1, LOXL3 (V6A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2504234	NM_032603.5(LOXL3):c.340T>G (p.Cys114Gly)	DOK1, LOXL3 (C114G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2483391	NM_032603.5(LOXL3):c.100G>A (p.Glu34Lys)	DOK1, LOXL3 (E34K)	Single nucleotide variant (missense variant +1 more)	not specified	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 2417928	NM_032603.5(LOXL3):c.536G>T (p.Arg179Ile)	DOK1, LOXL3 (R179I)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2249669	NM_032603.5(LOXL3):c.533G>T (p.Gly178Val)	DOK1, LOXL3 (G178V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2195918	NM_032603.5(LOXL3):c.251G>A (p.Arg84Gln)	DOK1, LOXL3 (R84Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2185332	NM_032603.5(LOXL3):c.634G>A (p.Val212Met)	DOK1, LOXL3 (V212M)	Single nucleotide variant (5 prime UTR 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 2166310	NM_032603.5(LOXL3):c.160T>C (p.Tyr54His)	DOK1, LOXL3 (Y54H)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2164844	NM_032603.5(LOXL3):c.278G>C (p.Gly93Ala)	DOK1, LOXL3 (G93A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2164843	NM_032603.5(LOXL3):c.443G>A (p.Arg148His)	DOK1, LOXL3 (R148H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2145622	NM_032603.5(LOXL3):c.66G>A (p.Ser22=)	DOK1, LOXL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2144846	NM_032603.5(LOXL3):c.134G>A (p.Arg45Gln)	DOK1, LOXL3 (R45Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2124602	NM_032603.5(LOXL3):c.523G>A (p.Val175Ile)	DOK1, LOXL3 (V175I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2097582	NM_032603.5(LOXL3):c.211G>A (p.Asp71Asn)	DOK1, LOXL3 (D71N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2092428	NM_032603.5(LOXL3):c.219C>G (p.Asp73Glu)	DOK1, LOXL3 (D73E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2082007	NM_032603.5(LOXL3):c.405G>C (p.Thr135=)	DOK1, LOXL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2073173	NM_032603.5(LOXL3):c.351C>T (p.Thr117=)	DOK1, LOXL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2072224	NM_032603.5(LOXL3):c.111C>A (p.Ala37=)	DOK1, LOXL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2070591	NM_032603.5(LOXL3):c.527G>A (p.Gly176Glu)	DOK1, LOXL3 (G176E)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2070140	NM_032603.5(LOXL3):c.117C>T (p.Ser39=)	DOK1, LOXL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2065422	NM_032603.5(LOXL3):c.507G>C (p.Val169=)	DOK1, LOXL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2061565	NM_032603.5(LOXL3):c.409G>C (p.Asp137His)	DOK1, LOXL3 (D137H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2041804	NM_032603.5(LOXL3):c.477+14A>G	DOK1, LOXL3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2028809	NM_032603.5(LOXL3):c.561G>A (p.Gly187=)	DOK1, LOXL3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2025378	NM_032603.5(LOXL3):c.313+3G>T	DOK1, LOXL3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2012490	NM_032603.5(LOXL3):c.373G>A (p.Ala125Thr)	DOK1, LOXL3 (A125T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2012240	NM_032603.5(LOXL3):c.9T>C (p.Pro3=)	DOK1, LOXL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2000990	NM_032603.5(LOXL3):c.591_596del (p.Trp197_Gln199delinsTer)	DOK1, LOXL3	Deletion (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1999326	NM_032603.5(LOXL3):c.40C>T (p.Leu14=)	DOK1, LOXL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1996241	NM_032603.5(LOXL3):c.508C>T (p.Arg170Ter)	DOK1, LOXL3 (R170*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1993378	NM_032603.5(LOXL3):c.154A>G (p.Lys52Glu)	DOK1, LOXL3 (K52E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1992141	NM_032603.5(LOXL3):c.161A>G (p.Tyr54Cys)	DOK1, LOXL3 (Y54C)	Single nucleotide variant (missense variant +1 more)	not provided	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 1983427	NM_032603.5(LOXL3):c.123G>A (p.Gly41=)	DOK1, LOXL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1968095	NM_032603.5(LOXL3):c.467A>G (p.Asn156Ser)	DOK1, LOXL3 (N156S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1963746	NM_032603.5(LOXL3):c.593C>A (p.Ser198Ter)	DOK1, LOXL3 (S198*)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1959976	NM_032603.5(LOXL3):c.691A>T (p.Arg231Trp)	LOXL3, DOK1 (R231W)	Single nucleotide variant (5 prime UTR 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 (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1953181	NM_032603.5(LOXL3):c.94G>A (p.Gly32Ser)	DOK1, LOXL3 (G32S)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1951957	NM_032603.5(LOXL3):c.548C>T (p.Pro183Leu)	DOK1, LOXL3 (P183L)	Single nucleotide variant (5 prime UTR variant +2 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 1948306	NM_032603.5(LOXL3):c.549C>T (p.Pro183=)	DOK1, LOXL3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1944206	NM_032603.5(LOXL3):c.561G>T (p.Gly187=)	DOK1, LOXL3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1943147	NM_032603.5(LOXL3):c.170G>A (p.Arg57His)	DOK1, LOXL3 (R57H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1941789	NM_032603.5(LOXL3):c.133C>A (p.Arg45=)	DOK1, LOXL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1940742	NM_032603.5(LOXL3):c.300T>C (p.Tyr100=)	DOK1, LOXL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1938813	NM_032603.5(LOXL3):c.680C>T (p.Ala227Val)	DOK1, LOXL3 (A227V)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
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 1934757	NM_032603.5(LOXL3):c.313+15A>C	DOK1, LOXL3	Single nucleotide variant (intron variant)	not provided	GLikely benign

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