2990[HGNC] - 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 1476076	NM_032603.5(LOXL3):c.692+19C>A	DOK1, LOXL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1959976	NM_032603.5(LOXL3):c.691A>T (p.Arg231Trp)	DOK1, LOXL3 (R231W)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1617073	NM_032603.5(LOXL3):c.687C>T (p.Phe229=)	DOK1, LOXL3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1561127	NM_032603.5(LOXL3):c.684C>T (p.Ala228=)	DOK1, LOXL3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1938813	NM_032603.5(LOXL3):c.680C>T (p.Ala227Val)	LOXL3, DOK1 (A227V)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1520301	NM_032603.5(LOXL3):c.677A>G (p.Asn226Ser)	DOK1, LOXL3 (N226S)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	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 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 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 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 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 1343102	NM_032603.5(LOXL3):c.594del (p.Gln199fs)	LOXL3, DOK1 (Q199fs)	Deletion (frameshift variant +2 more)	Myopia 28, autosomal recessive	GPathogenic
Select item 798647	NM_032603.5(LOXL3):c.594G>C (p.Ser198=)	DOK1, LOXL3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
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 1362891	NM_032603.5(LOXL3):c.588C>T (p.Gly196=)	DOK1, LOXL3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1474675	NM_032603.5(LOXL3):c.586G>A (p.Gly196Ser)	DOK1, LOXL3 (G196S)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1537551	NM_032603.5(LOXL3):c.579T>C (p.Leu193=)	DOK1, LOXL3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1397872	NM_032603.5(LOXL3):c.563T>C (p.Leu188Pro)	DOK1, LOXL3 (L188P)	Single nucleotide variant (5 prime UTR variant +2 more)	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 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 1364219	NM_032603.5(LOXL3):c.559G>A (p.Gly187Arg)	DOK1, LOXL3 (G187R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1904261	NM_032603.5(LOXL3):c.555G>A (p.Thr185=)	DOK1, LOXL3	Single nucleotide variant (5 prime UTR variant +2 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 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 1446285	NM_032603.5(LOXL3):c.547C>A (p.Pro183Thr)	DOK1, LOXL3 (P183T)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 1574690	NM_032603.5(LOXL3):c.544C>T (p.Leu182=)	DOK1, LOXL3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1435512	NM_032603.5(LOXL3):c.542C>T (p.Pro181Leu)	DOK1, LOXL3 (P181L)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
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 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 2124602	NM_032603.5(LOXL3):c.523G>A (p.Val175Ile)	LOXL3, DOK1 (V175I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2065422	NM_032603.5(LOXL3):c.507G>C (p.Val169=)	LOXL3, DOK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1364577	NM_032603.5(LOXL3):c.501G>C (p.Glu167Asp)	DOK1, LOXL3 (E167D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 2976273	NM_032603.5(LOXL3):c.478-16G>T	DOK1, LOXL3	Single nucleotide variant (intron 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 1634399	NM_032603.5(LOXL3):c.477+17C>T	DOK1, LOXL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2041804	NM_032603.5(LOXL3):c.477+14A>G	LOXL3, DOK1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2967009	NM_032603.5(LOXL3):c.477+11C>T	DOK1, LOXL3	Single nucleotide variant (intron variant)	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 1451010	NM_032603.5(LOXL3):c.459G>A (p.Ser153=)	DOK1, LOXL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1810228	NM_032603.5(LOXL3):c.449delinsAA (p.Pro150fs)	DOK1, LOXL3 (P150fs)	Indel (frameshift variant +1 more)	not provided	GPathogenic
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 1406785	NM_032603.5(LOXL3):c.442C>A (p.Arg148Ser)	DOK1, LOXL3 (R148S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1401142	NM_032603.5(LOXL3):c.442C>T (p.Arg148Cys)	DOK1, LOXL3 (R148C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1525969	NM_032603.5(LOXL3):c.409G>A (p.Asp137Asn)	DOK1, LOXL3 (D137N)	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 1648890	NM_032603.5(LOXL3):c.405G>A (p.Thr135=)	DOK1, LOXL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1444378	NM_032603.5(LOXL3):c.404C>T (p.Thr135Met)	DOK1, LOXL3 (T135M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1502728	NM_032603.5(LOXL3):c.395G>A (p.Ser132Asn)	DOK1, LOXL3 (S132N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1511250	NM_032603.5(LOXL3):c.394A>G (p.Ser132Gly)	DOK1, LOXL3 (S132G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1466768	NM_032603.5(LOXL3):c.379C>T (p.Arg127Trp)	DOK1, LOXL3 (R127W)	Single nucleotide variant (missense variant +1 more)	not provided	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 2975796	NM_032603.5(LOXL3):c.375C>T (p.Ala125=)	LOXL3, DOK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 1403052	NM_032603.5(LOXL3):c.339C>A (p.Ser113Arg)	DOK1, LOXL3 (S113R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1389883	NM_032603.5(LOXL3):c.317G>A (p.Arg106His)	LOXL3, DOK1 (R106H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 777996	NM_032603.5(LOXL3):c.317G>T (p.Arg106Leu)	DOK1, LOXL3 (R106L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1928495	NM_032603.5(LOXL3):c.316C>T (p.Arg106Cys)	DOK1, LOXL3 (R106C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1408489	NM_032603.5(LOXL3):c.314-3C>T	DOK1, LOXL3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1672211	NM_032603.5(LOXL3):c.314-20C>T	DOK1, LOXL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1649230	NM_032603.5(LOXL3):c.314-20C>G	DOK1, LOXL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1631849	NM_032603.5(LOXL3):c.313+18C>T	DOK1, LOXL3	Single nucleotide variant (intron variant)	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
Select item 2025378	NM_032603.5(LOXL3):c.313+3G>T	DOK1, LOXL3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1391201	NM_032603.5(LOXL3):c.310A>G (p.Thr104Ala)	DOK1, LOXL3 (T104A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1804290	NM_032603.5(LOXL3):c.308G>A (p.Gly103Glu)	DOK1, LOXL3 (G103E)	Single nucleotide variant (missense 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 1477202	NM_032603.5(LOXL3):c.292G>A (p.Ala98Thr)	DOK1, LOXL3 (A98T)	Single nucleotide variant (missense variant +1 more)	not provided	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 1421301	NM_032603.5(LOXL3):c.266_267del (p.Thr89fs)	DOK1, LOXL3 (T89fs)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1388500	NM_032603.5(LOXL3):c.266C>T (p.Thr89Ile)	DOK1, LOXL3 (T89I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 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 1592293	NM_032603.5(LOXL3):c.216T>C (p.Asp72=)	LOXL3, DOK1	Single nucleotide variant (synonymous 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 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 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 2712435	NM_032603.5(LOXL3):c.153_183del (p.Arg51fs)	DOK1, LOXL3 (R51fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1589333	NM_032603.5(LOXL3):c.180A>T (p.Ile60=)	DOK1, LOXL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1404223	NM_032603.5(LOXL3):c.172G>A (p.Val58Met)	DOK1, LOXL3 (V58M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1528812	NM_032603.5(LOXL3):c.171C>T (p.Arg57=)	DOK1, LOXL3	Single nucleotide variant (synonymous variant +1 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 1933778	NM_032603.5(LOXL3):c.169C>T (p.Arg57Cys)	DOK1, LOXL3 (R57C)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 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 2166310	NM_032603.5(LOXL3):c.160T>C (p.Tyr54His)	DOK1, LOXL3 (Y54H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1381379	NM_032603.5(LOXL3):c.158C>T (p.Pro53Leu)	DOK1, LOXL3 (P53L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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