ClinVar for Gene (Select 2301) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3351911	NM_012186.3(FOXE3):c.96C>G (p.Leu32=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	FOXE3-related disorder	GLikely benign
Select item 3351445	NM_012186.3(FOXE3):c.36G>C (p.Ala12=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	FOXE3-related disorder	GLikely benign
Select item 3341332	NM_012186.3(FOXE3):c.211A>G (p.Lys71Glu)	FOXE3, LINC01389 (K71E)	Single nucleotide variant (missense variant)	Congenital primary aphakia	GUncertain significance
Select item 3341331	NM_012186.3(FOXE3):c.245T>A (p.Met82Lys)	FOXE3, LINC01389 (M82K)	Single nucleotide variant (missense variant)	Congenital primary aphakia	GUncertain significance
Select item 3338378	NM_012186.3(FOXE3):c.485G>A (p.Arg162Gln)	FOXE3, LINC01389 (R162Q)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 11, susceptibility to	GUncertain significance
Select item 3279577	NM_012186.3(FOXE3):c.949C>G (p.Arg317Gly)	FOXE3, LINC01389 (R317G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3279576	NM_012186.3(FOXE3):c.347A>G (p.Gln116Arg)	FOXE3, LINC01389 (Q116R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3279575	NM_012186.3(FOXE3):c.82C>T (p.Pro28Ser)	FOXE3, LINC01389 (P28S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3279574	NM_012186.3(FOXE3):c.294C>T (p.Tyr98=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3279573	NM_012186.3(FOXE3):c.704C>G (p.Pro235Arg)	FOXE3, LINC01389 (P235R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3279572	NM_012186.3(FOXE3):c.839C>T (p.Pro280Leu)	LINC01389, FOXE3 (P280L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3279571	NM_012186.3(FOXE3):c.94C>G (p.Leu32Val)	FOXE3, LINC01389 (L32V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3279570	NM_012186.3(FOXE3):c.94C>A (p.Leu32Ile)	FOXE3, LINC01389 (L32I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3279569	NM_012186.3(FOXE3):c.79C>A (p.Pro27Thr)	FOXE3, LINC01389 (P27T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3279568	NM_012186.3(FOXE3):c.903del (p.Glu303fs)	FOXE3, LINC01389 (E303fs)	Deletion (frameshift variant)	Cardiovascular phenotype	GUncertain significance
Select item 3279567	NM_012186.3(FOXE3):c.14dup (p.Ser5fs)	FOXE3, LINC01389 (S5fs)	Duplication (frameshift variant)	Cardiovascular phenotype	GUncertain significance
Select item 3279566	NM_012186.3(FOXE3):c.872G>T (p.Gly291Val)	FOXE3, LINC01389 (G291V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3279565	NM_012186.3(FOXE3):c.859C>T (p.Leu287=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3279564	NM_012186.3(FOXE3):c.485G>T (p.Arg162Leu)	FOXE3, LINC01389 (R162L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3279562	NM_012186.3(FOXE3):c.5C>G (p.Ala2Gly)	FOXE3, LINC01389 (A2G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3257365	NM_012186.3(FOXE3):c.618C>T (p.Ala206=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3237156	NM_012186.3(FOXE3):c.873dup (p.Pro292fs)	FOXE3, LINC01389 (P292fs)	Duplication (frameshift variant)	Congenital primary aphakia	GPathogenic
Select item 3226216	NM_012186.3(FOXE3):c.956T>C (p.Leu319Pro)	FOXE3, LINC01389 (L319P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3226215	NM_012186.3(FOXE3):c.802C>T (p.Arg268Cys)	FOXE3, LINC01389 (R268C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3226214	NM_012186.3(FOXE3):c.758G>C (p.Cys253Ser)	LINC01389, FOXE3 (C253S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3226213	NM_012186.3(FOXE3):c.672C>A (p.Asn224Lys)	FOXE3, LINC01389 (N224K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3226212	NM_012186.3(FOXE3):c.627C>T (p.Gly209=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3226211	NM_012186.3(FOXE3):c.545C>A (p.Pro182Gln)	FOXE3, LINC01389 (P182Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3226210	NM_012186.3(FOXE3):c.39C>T (p.Phe13=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3226209	NM_012186.3(FOXE3):c.342G>A (p.Lys114=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3226208	NM_012186.3(FOXE3):c.304A>T (p.Thr102Ser)	FOXE3, LINC01389 (T102S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3226207	NM_012186.3(FOXE3):c.28C>T (p.Pro10Ser)	FOXE3, LINC01389 (P10S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3226206	NM_012186.3(FOXE3):c.288C>T (p.Ala96=)	LINC01389, FOXE3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3226205	NM_012186.3(FOXE3):c.27G>T (p.Pro9=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3226204	NM_012186.3(FOXE3):c.116G>A (p.Arg39Gln)	FOXE3, LINC01389 (R39Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3062755	GRCh37/hg19 1p33-32.2(chr1:47493178-57042671)x3	ACOT11, AGBL4 +72 more	Copy number gain	not specified	GLikely pathogenic
Select item 3061123	NM_012186.3(FOXE3):c.105C>A (p.Ala35=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	FOXE3-related disorder	GLikely benign
Select item 3058833	NM_012186.3(FOXE3):c.216G>C (p.Pro72=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	FOXE3-related disorder	GLikely benign
Select item 3048075	NM_012186.3(FOXE3):c.-10G>A	FOXE3, LINC01389	Single nucleotide variant (5 prime UTR variant)	FOXE3-related disorder	GLikely benign
Select item 3032939	NM_012186.3(FOXE3):c.109C>G (p.Pro37Ala)	FOXE3, LINC01389 (P37A)	Single nucleotide variant (missense variant)	FOXE3-related disorder	GUncertain significance
Select item 3030185	NM_012186.3(FOXE3):c.177G>T (p.Pro59=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	FOXE3-related disorder	GLikely benign
Select item 2954430	NM_012186.3(FOXE3):c.557T>C (p.Phe186Ser)	FOXE3, LINC01389 (F186S)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis +1 more	GUncertain significance
Select item 2954289	NM_012186.3(FOXE3):c.802C>A (p.Arg268Ser)	FOXE3, LINC01389 (R268S)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis +1 more	GUncertain significance
Select item 2952367	NM_012186.3(FOXE3):c.773C>T (p.Ser258Phe)	FOXE3, LINC01389 (S258F)	Single nucleotide variant (missense variant)	Congenital primary aphakia +1 more	GUncertain significance
Select item 2952039	NM_012186.3(FOXE3):c.222C>G (p.Tyr74Ter)	FOXE3, LINC01389 (Y74*)	Single nucleotide variant (nonsense)	Congenital primary aphakia +1 more	GPathogenic
Select item 2951169	NM_012186.3(FOXE3):c.310C>A (p.Arg104Ser)	FOXE3, LINC01389 (R104S)	Single nucleotide variant (missense variant)	Congenital primary aphakia +1 more	GUncertain significance
Select item 2950976	NM_012186.3(FOXE3):c.335C>A (p.Pro112Gln)	FOXE3, LINC01389 (P112Q)	Single nucleotide variant (missense variant)	Congenital primary aphakia +1 more	GUncertain significance
Select item 2950648	NM_012186.3(FOXE3):c.496C>T (p.Arg166Cys)	FOXE3, LINC01389 (R166C)	Single nucleotide variant (missense variant)	Congenital primary aphakia +1 more	GUncertain significance
Select item 2949820	NM_012186.3(FOXE3):c.64G>A (p.Val22Ile)	FOXE3, LINC01389 (V22I)	Single nucleotide variant (missense variant)	Congenital primary aphakia +1 more	GUncertain significance
Select item 2947078	NM_012186.3(FOXE3):c.706G>T (p.Glu236Ter)	FOXE3, LINC01389 (E236*)	Single nucleotide variant (nonsense)	Congenital primary aphakia +1 more	GPathogenic
Select item 2946255	NM_012186.3(FOXE3):c.438G>A (p.Thr146=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Congenital primary aphakia +1 more	GLikely benign
Select item 2946019	NM_012186.3(FOXE3):c.185G>C (p.Arg62Pro)	LINC01389, FOXE3 (R62P)	Single nucleotide variant (missense variant)	Congenital primary aphakia +1 more	GUncertain significance
Select item 2945214	NM_012186.3(FOXE3):c.179GGC[5] (p.Arg65del)	FOXE3, LINC01389 (R65del)	Microsatellite (inframe_deletion)	Anterior segment dysgenesis +1 more	GUncertain significance
Select item 2944481	NM_012186.3(FOXE3):c.742G>T (p.Ala248Ser)	FOXE3, LINC01389 (A248S)	Single nucleotide variant (missense variant)	Congenital primary aphakia +1 more	GUncertain significance
Select item 2944433	NM_012186.3(FOXE3):c.460A>G (p.Met154Val)	FOXE3, LINC01389 (M154V)	Single nucleotide variant (missense variant)	Congenital primary aphakia +1 more	GUncertain significance
Select item 2943315	NM_012186.3(FOXE3):c.163C>T (p.Pro55Ser)	FOXE3, LINC01389 (P55S)	Single nucleotide variant (missense variant)	Congenital primary aphakia +1 more	GUncertain significance
Select item 2941883	NM_012186.3(FOXE3):c.822G>A (p.Thr274=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Congenital primary aphakia +1 more	GUncertain significance
Select item 2941659	NM_012186.3(FOXE3):c.877dup (p.Ala293fs)	FOXE3, LINC01389 (A293fs)	Duplication (frameshift variant)	Congenital primary aphakia +1 more	GUncertain significance
Select item 2940287	NM_012186.3(FOXE3):c.569C>T (p.Pro190Leu)	FOXE3, LINC01389 (P190L)	Single nucleotide variant (missense variant)	Congenital primary aphakia +1 more	GUncertain significance
Select item 2939525	NM_012186.3(FOXE3):c.880G>A (p.Ala294Thr)	FOXE3, LINC01389 (A294T)	Single nucleotide variant (missense variant)	Congenital primary aphakia +1 more	GUncertain significance
Select item 2939475	NM_012186.3(FOXE3):c.194G>C (p.Arg65Pro)	FOXE3, LINC01389 (R65P)	Single nucleotide variant (missense variant)	Congenital primary aphakia +1 more	GUncertain significance
Select item 2937707	NM_012186.3(FOXE3):c.470A>G (p.Asn157Ser)	FOXE3, LINC01389 (N157S)	Single nucleotide variant (missense variant)	Congenital primary aphakia +1 more	GUncertain significance
Select item 2937699	NM_012186.3(FOXE3):c.669G>T (p.Val223=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Congenital primary aphakia +1 more	GLikely benign
Select item 2937616	NM_012186.3(FOXE3):c.88T>C (p.Ser30Pro)	FOXE3, LINC01389 (S30P)	Single nucleotide variant (missense variant)	Congenital primary aphakia +1 more	GUncertain significance
Select item 2937589	NM_012186.3(FOXE3):c.653G>T (p.Ser218Ile)	FOXE3, LINC01389 (S218I)	Single nucleotide variant (missense variant)	Congenital primary aphakia +1 more	GUncertain significance
Select item 2936765	NM_012186.3(FOXE3):c.519C>T (p.Pro173=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Congenital primary aphakia +1 more	GLikely benign
Select item 2936249	NM_012186.3(FOXE3):c.326G>A (p.Arg109His)	FOXE3, LINC01389 (R109H)	Single nucleotide variant (missense variant)	Congenital primary aphakia +1 more	GUncertain significance
Select item 2935708	NM_012186.3(FOXE3):c.855C>T (p.Pro285=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Congenital primary aphakia +1 more	GLikely benign
Select item 2935045	NM_012186.3(FOXE3):c.871G>C (p.Gly291Arg)	FOXE3, LINC01389 (G291R)	Single nucleotide variant (missense variant)	Congenital primary aphakia +1 more	GUncertain significance
Select item 2934853	NM_012186.3(FOXE3):c.96C>T (p.Leu32=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Congenital primary aphakia +1 more	GLikely benign
Select item 2934709	NM_012186.3(FOXE3):c.313T>C (p.Phe105Leu)	FOXE3, LINC01389 (F105L)	Single nucleotide variant (missense variant)	Congenital primary aphakia +1 more	GUncertain significance
Select item 2934654	NM_012186.3(FOXE3):c.285C>G (p.Ala95=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Congenital primary aphakia +1 more	GLikely benign
Select item 2934197	NM_012186.3(FOXE3):c.803G>C (p.Arg268Pro)	FOXE3, LINC01389 (R268P)	Single nucleotide variant (missense variant)	Congenital primary aphakia +1 more	GUncertain significance
Select item 2933991	NM_012186.3(FOXE3):c.311G>C (p.Arg104Pro)	FOXE3, LINC01389 (R104P)	Single nucleotide variant (missense variant)	Congenital primary aphakia +1 more	GUncertain significance
Select item 2933041	NM_012186.3(FOXE3):c.296G>A (p.Arg99His)	FOXE3, LINC01389 (R99H)	Single nucleotide variant (missense variant)	Congenital primary aphakia +1 more	GUncertain significance
Select item 2932434	NM_012186.3(FOXE3):c.642G>T (p.Ala214=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Congenital primary aphakia +1 more	GUncertain significance
Select item 2932334	NM_012186.3(FOXE3):c.150G>A (p.Glu50=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Congenital primary aphakia +1 more	GLikely benign
Select item 2930333	NM_012186.3(FOXE3):c.724G>A (p.Ala242Thr)	FOXE3, LINC01389 (A242T)	Single nucleotide variant (missense variant)	Congenital primary aphakia +1 more	GUncertain significance
Select item 2929510	NM_012186.3(FOXE3):c.780A>G (p.Pro260=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Congenital primary aphakia +1 more	GLikely benign
Select item 2929418	NM_012186.3(FOXE3):c.453C>G (p.Ala151=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Congenital primary aphakia +1 more	GLikely benign
Select item 2928673	NM_012186.3(FOXE3):c.273C>T (p.Arg91=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Congenital primary aphakia +1 more	GUncertain significance
Select item 2928666	NM_012186.3(FOXE3):c.922C>A (p.Gln308Lys)	FOXE3, LINC01389 (Q308K)	Single nucleotide variant (missense variant)	Congenital primary aphakia +1 more	GUncertain significance
Select item 2928206	NM_012186.3(FOXE3):c.801C>T (p.Asp267=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Congenital primary aphakia +1 more	GLikely benign
Select item 2927585	NM_012186.3(FOXE3):c.776C>G (p.Pro259Arg)	FOXE3, LINC01389 (P259R)	Single nucleotide variant (missense variant)	Congenital primary aphakia +1 more	GUncertain significance
Select item 2927311	NM_012186.3(FOXE3):c.703C>A (p.Pro235Thr)	FOXE3, LINC01389 (P235T)	Single nucleotide variant (missense variant)	Congenital primary aphakia +1 more	GUncertain significance
Select item 2927026	NM_012186.3(FOXE3):c.706G>A (p.Glu236Lys)	FOXE3, LINC01389 (E236K)	Single nucleotide variant (missense variant)	Congenital primary aphakia +1 more	GUncertain significance
Select item 2926917	NM_012186.3(FOXE3):c.641C>T (p.Ala214Val)	FOXE3, LINC01389 (A214V)	Single nucleotide variant (missense variant)	Congenital primary aphakia +2 more	GUncertain significance
Select item 2926506	NM_012186.3(FOXE3):c.217C>G (p.Pro73Ala)	FOXE3, LINC01389 (P73A)	Single nucleotide variant (missense variant)	Congenital primary aphakia +2 more	GUncertain significance
Select item 2926193	NM_012186.3(FOXE3):c.55C>T (p.Leu19=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Congenital primary aphakia +1 more	GLikely benign
Select item 2925802	NM_012186.3(FOXE3):c.717C>G (p.Cys239Trp)	FOXE3, LINC01389 (C239W)	Single nucleotide variant (missense variant)	Congenital primary aphakia +1 more	GUncertain significance
Select item 2925790	NM_012186.3(FOXE3):c.179GGC[8] (p.Arg65_Pro66insArgArg)	FOXE3, LINC01389	Microsatellite (inframe_insertion)	not provided +2 more	GUncertain significance
Select item 2925785	NM_012186.3(FOXE3):c.306C>T (p.Thr102=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Congenital primary aphakia +1 more	GLikely benign
Select item 2925206	NM_012186.3(FOXE3):c.75G>T (p.Ser25=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Congenital primary aphakia +1 more	GLikely benign
Select item 2924914	NM_012186.3(FOXE3):c.165C>G (p.Pro55=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Congenital primary aphakia +1 more	GLikely benign
Select item 2923198	NM_012186.3(FOXE3):c.552C>T (p.Leu184=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Congenital primary aphakia +1 more	GLikely benign
Select item 2923098	NM_012186.3(FOXE3):c.505C>A (p.Arg169Ser)	FOXE3, LINC01389 (R169S)	Single nucleotide variant (missense variant)	Congenital primary aphakia +1 more	GUncertain significance
Select item 2922986	NM_012186.3(FOXE3):c.705del (p.Glu236fs)	FOXE3, LINC01389 (E236fs)	Deletion (frameshift variant)	Congenital primary aphakia +1 more	GPathogenic
Select item 2922963	NM_012186.3(FOXE3):c.172G>C (p.Gly58Arg)	FOXE3, LINC01389 (G58R)	Single nucleotide variant (missense variant)	Congenital primary aphakia +1 more	GUncertain significance
Select item 2922479	NM_012186.3(FOXE3):c.353G>C (p.Ser118Thr)	FOXE3, LINC01389 (S118T)	Single nucleotide variant (missense variant)	Congenital primary aphakia +1 more	GUncertain significance
Select item 2922450	NM_012186.3(FOXE3):c.535del (p.Ala179fs)	FOXE3, LINC01389 (A179fs)	Deletion (frameshift variant)	Congenital primary aphakia +1 more	GPathogenic

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