Related gene-specific medical variations for Gene (Select 2301) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3061123	NM_012186.3(FOXE3):c.105C>A (p.Ala35=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	FOXE3-related condition	GLikely benign
Select item 3058833	NM_012186.3(FOXE3):c.216G>C (p.Pro72=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	FOXE3-related condition	GLikely benign
Select item 3048075	NM_012186.3(FOXE3):c.-10G>A	FOXE3, LINC01389	Single nucleotide variant (5 prime UTR variant)	FOXE3-related condition	GLikely benign
Select item 3032939	NM_012186.3(FOXE3):c.109C>G (p.Pro37Ala)	FOXE3, LINC01389 (P37A)	Single nucleotide variant (missense variant)	FOXE3-related condition	GUncertain significance
Select item 3030185	NM_012186.3(FOXE3):c.177G>T (p.Pro59=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	FOXE3-related condition	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)	Anterior segment dysgenesis +1 more	GUncertain significance
Select item 2952039	NM_012186.3(FOXE3):c.222C>G (p.Tyr74Ter)	LINC01389, FOXE3 (Y74*)	Single nucleotide variant (nonsense)	Anterior segment dysgenesis +1 more	GPathogenic
Select item 2951169	NM_012186.3(FOXE3):c.310C>A (p.Arg104Ser)	FOXE3, LINC01389 (R104S)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis +1 more	GUncertain significance
Select item 2950976	NM_012186.3(FOXE3):c.335C>A (p.Pro112Gln)	FOXE3, LINC01389 (P112Q)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis +1 more	GUncertain significance
Select item 2950648	NM_012186.3(FOXE3):c.496C>T (p.Arg166Cys)	FOXE3, LINC01389 (R166C)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis +1 more	GUncertain significance
Select item 2949820	NM_012186.3(FOXE3):c.64G>A (p.Val22Ile)	FOXE3, LINC01389 (V22I)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis +1 more	GUncertain significance
Select item 2947078	NM_012186.3(FOXE3):c.706G>T (p.Glu236Ter)	FOXE3, LINC01389 (E236*)	Single nucleotide variant (nonsense)	Anterior segment dysgenesis +1 more	GPathogenic
Select item 2946255	NM_012186.3(FOXE3):c.438G>A (p.Thr146=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Anterior segment dysgenesis +1 more	GLikely benign
Select item 2946019	NM_012186.3(FOXE3):c.185G>C (p.Arg62Pro)	FOXE3, LINC01389 (R62P)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis +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 +2 more	GConflicting classifications of pathogenicity
Select item 2944481	NM_012186.3(FOXE3):c.742G>T (p.Ala248Ser)	FOXE3, LINC01389 (A248S)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis +1 more	GUncertain significance
Select item 2944433	NM_012186.3(FOXE3):c.460A>G (p.Met154Val)	FOXE3, LINC01389 (M154V)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis +1 more	GUncertain significance
Select item 2943315	NM_012186.3(FOXE3):c.163C>T (p.Pro55Ser)	FOXE3, LINC01389 (P55S)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis +1 more	GUncertain significance
Select item 2941883	NM_012186.3(FOXE3):c.822G>A (p.Thr274=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Anterior segment dysgenesis +1 more	GUncertain significance
Select item 2941659	NM_012186.3(FOXE3):c.877dup (p.Ala293fs)	FOXE3, LINC01389 (A293fs)	Duplication (frameshift variant)	Anterior segment dysgenesis +1 more	GUncertain significance
Select item 2940287	NM_012186.3(FOXE3):c.569C>T (p.Pro190Leu)	FOXE3, LINC01389 (P190L)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis +1 more	GUncertain significance
Select item 2939525	NM_012186.3(FOXE3):c.880G>A (p.Ala294Thr)	LINC01389, FOXE3 (A294T)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis +1 more	GUncertain significance
Select item 2939475	NM_012186.3(FOXE3):c.194G>C (p.Arg65Pro)	FOXE3, LINC01389 (R65P)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis +1 more	GUncertain significance
Select item 2937707	NM_012186.3(FOXE3):c.470A>G (p.Asn157Ser)	FOXE3, LINC01389 (N157S)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis +1 more	GUncertain significance
Select item 2937699	NM_012186.3(FOXE3):c.669G>T (p.Val223=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Anterior segment dysgenesis +1 more	GLikely benign
Select item 2937616	NM_012186.3(FOXE3):c.88T>C (p.Ser30Pro)	FOXE3, LINC01389 (S30P)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis +1 more	GUncertain significance
Select item 2937589	NM_012186.3(FOXE3):c.653G>T (p.Ser218Ile)	FOXE3, LINC01389 (S218I)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis +1 more	GUncertain significance
Select item 2936765	NM_012186.3(FOXE3):c.519C>T (p.Pro173=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Anterior segment dysgenesis +1 more	GLikely benign
Select item 2936249	NM_012186.3(FOXE3):c.326G>A (p.Arg109His)	FOXE3, LINC01389 (R109H)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis +1 more	GUncertain significance
Select item 2935708	NM_012186.3(FOXE3):c.855C>T (p.Pro285=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Anterior segment dysgenesis +1 more	GLikely benign
Select item 2935045	NM_012186.3(FOXE3):c.871G>C (p.Gly291Arg)	FOXE3, LINC01389 (G291R)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis +1 more	GUncertain significance
Select item 2934853	NM_012186.3(FOXE3):c.96C>T (p.Leu32=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Anterior segment dysgenesis +1 more	GLikely benign
Select item 2934709	NM_012186.3(FOXE3):c.313T>C (p.Phe105Leu)	FOXE3, LINC01389 (F105L)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis +1 more	GUncertain significance
Select item 2934654	NM_012186.3(FOXE3):c.285C>G (p.Ala95=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Anterior segment dysgenesis +1 more	GLikely benign
Select item 2934197	NM_012186.3(FOXE3):c.803G>C (p.Arg268Pro)	FOXE3, LINC01389 (R268P)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis +1 more	GUncertain significance
Select item 2933991	NM_012186.3(FOXE3):c.311G>C (p.Arg104Pro)	FOXE3, LINC01389 (R104P)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis +1 more	GUncertain significance
Select item 2933041	NM_012186.3(FOXE3):c.296G>A (p.Arg99His)	FOXE3, LINC01389 (R99H)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis +1 more	GUncertain significance
Select item 2932434	NM_012186.3(FOXE3):c.642G>T (p.Ala214=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Anterior segment dysgenesis +1 more	GUncertain significance
Select item 2932334	NM_012186.3(FOXE3):c.150G>A (p.Glu50=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Anterior segment dysgenesis +1 more	GLikely benign
Select item 2930333	NM_012186.3(FOXE3):c.724G>A (p.Ala242Thr)	FOXE3, LINC01389 (A242T)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis +1 more	GUncertain significance
Select item 2929510	NM_012186.3(FOXE3):c.780A>G (p.Pro260=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Anterior segment dysgenesis +1 more	GLikely benign
Select item 2929418	NM_012186.3(FOXE3):c.453C>G (p.Ala151=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Anterior segment dysgenesis +1 more	GLikely benign
Select item 2928673	NM_012186.3(FOXE3):c.273C>T (p.Arg91=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Anterior segment dysgenesis +1 more	GUncertain significance
Select item 2928666	NM_012186.3(FOXE3):c.922C>A (p.Gln308Lys)	FOXE3, LINC01389 (Q308K)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis +1 more	GUncertain significance
Select item 2928206	NM_012186.3(FOXE3):c.801C>T (p.Asp267=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Anterior segment dysgenesis +1 more	GLikely benign
Select item 2927585	NM_012186.3(FOXE3):c.776C>G (p.Pro259Arg)	FOXE3, LINC01389 (P259R)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis +1 more	GUncertain significance
Select item 2927311	NM_012186.3(FOXE3):c.703C>A (p.Pro235Thr)	FOXE3, LINC01389 (P235T)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis +1 more	GUncertain significance
Select item 2927026	NM_012186.3(FOXE3):c.706G>A (p.Glu236Lys)	FOXE3, LINC01389 (E236K)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis +1 more	GUncertain significance
Select item 2926917	NM_012186.3(FOXE3):c.641C>T (p.Ala214Val)	FOXE3, LINC01389 (A214V)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis +1 more	GUncertain significance
Select item 2926506	NM_012186.3(FOXE3):c.217C>G (p.Pro73Ala)	FOXE3, LINC01389 (P73A)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis +1 more	GUncertain significance
Select item 2926193	NM_012186.3(FOXE3):c.55C>T (p.Leu19=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Anterior segment dysgenesis +1 more	GLikely benign
Select item 2925802	NM_012186.3(FOXE3):c.717C>G (p.Cys239Trp)	FOXE3, LINC01389 (C239W)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis +1 more	GUncertain significance
Select item 2925790	NM_012186.3(FOXE3):c.179GGC[8] (p.Arg65_Pro66insArgArg)	FOXE3, LINC01389	Microsatellite (inframe_insertion)	Anterior segment dysgenesis +1 more	GUncertain significance
Select item 2925785	NM_012186.3(FOXE3):c.306C>T (p.Thr102=)	LINC01389, FOXE3	Single nucleotide variant (synonymous variant)	Anterior segment dysgenesis +1 more	GLikely benign
Select item 2925206	NM_012186.3(FOXE3):c.75G>T (p.Ser25=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Anterior segment dysgenesis +1 more	GLikely benign
Select item 2924914	NM_012186.3(FOXE3):c.165C>G (p.Pro55=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Anterior segment dysgenesis +1 more	GLikely benign
Select item 2923198	NM_012186.3(FOXE3):c.552C>T (p.Leu184=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Anterior segment dysgenesis +1 more	GLikely benign
Select item 2923098	NM_012186.3(FOXE3):c.505C>A (p.Arg169Ser)	FOXE3, LINC01389 (R169S)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis +1 more	GUncertain significance
Select item 2922986	NM_012186.3(FOXE3):c.705del (p.Glu236fs)	LINC01389, FOXE3 (E236fs)	Deletion (frameshift variant)	Anterior segment dysgenesis +1 more	GPathogenic
Select item 2922963	NM_012186.3(FOXE3):c.172G>C (p.Gly58Arg)	FOXE3, LINC01389 (G58R)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis +1 more	GUncertain significance
Select item 2922479	NM_012186.3(FOXE3):c.353G>C (p.Ser118Thr)	FOXE3, LINC01389 (S118T)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis +1 more	GUncertain significance
Select item 2922450	NM_012186.3(FOXE3):c.535del (p.Ala179fs)	FOXE3, LINC01389 (A179fs)	Deletion (frameshift variant)	Anterior segment dysgenesis +1 more	GPathogenic
Select item 2638807	NM_012186.3(FOXE3):c.3G>A (p.Met1Ile)	FOXE3, LINC01389 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2632844	NM_012186.3(FOXE3):c.456dup (p.Asp153fs)	FOXE3, LINC01389 (D153fs)	Duplication (frameshift variant)	FOXE3-related condition	GLikely pathogenic
Select item 2625493	NM_012186.3(FOXE3):c.496C>A (p.Arg166Ser)	FOXE3, LINC01389 (R166S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2625492	NM_012186.3(FOXE3):c.134C>A (p.Ala45Glu)	FOXE3, LINC01389 (A45E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2615862	NM_012186.3(FOXE3):c.752C>T (p.Pro251Leu)	FOXE3, LINC01389 (P251L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611624	NM_012186.3(FOXE3):c.214C>T (p.Pro72Ser)	FOXE3, LINC01389 (P72S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2581644	NM_012186.3(FOXE3):c.582G>A (p.Ala194=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2581643	NM_012186.3(FOXE3):c.-2C>G	FOXE3, LINC01389	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2577084	NM_012186.3(FOXE3):c.380A>G (p.Asp127Gly)	FOXE3, LINC01389 (D127G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2563303	NM_012186.3(FOXE3):c.398C>T (p.Pro133Leu)	FOXE3, LINC01389 (P133L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2563301	NM_012186.3(FOXE3):c.154G>C (p.Ala52Pro)	FOXE3, LINC01389 (A52P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2563300	NM_012186.3(FOXE3):c.331A>T (p.Ser111Cys)	LINC01389, FOXE3 (S111C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2563299	NM_012186.3(FOXE3):c.872G>A (p.Gly291Glu)	FOXE3, LINC01389 (G291E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2563298	NM_012186.3(FOXE3):c.548C>A (p.Pro183Gln)	FOXE3, LINC01389 (P183Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2563297	NM_012186.3(FOXE3):c.781C>G (p.Leu261Val)	FOXE3, LINC01389 (L261V)	Single nucleotide variant (missense variant)	Congenital primary aphakia +2 more	GUncertain significance
Select item 2563296	NM_012186.3(FOXE3):c.809T>C (p.Val270Ala)	FOXE3, LINC01389 (V270A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2557858	NM_012186.3(FOXE3):c.659A>G (p.Asp220Gly)	FOXE3, LINC01389 (D220G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535689	NM_012186.3(FOXE3):c.170C>G (p.Pro57Arg)	FOXE3, LINC01389 (P57R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2496960	NM_012186.3(FOXE3):c.798C>G (p.Pro266=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 2496959	NM_012186.3(FOXE3):c.441G>C (p.Leu147=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2496958	NM_012186.3(FOXE3):c.504G>A (p.Lys168=)	LINC01389, FOXE3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2496957	NM_012186.3(FOXE3):c.456A>C (p.Ala152=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2496956	NM_012186.3(FOXE3):c.180G>C (p.Gly60=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2496955	NM_012186.3(FOXE3):c.225G>A (p.Ser75=)	LINC01389, FOXE3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2496953	NM_012186.3(FOXE3):c.249T>G (p.Ala83=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2448368	NM_012186.3(FOXE3):c.508G>A (p.Ala170Thr)	FOXE3, LINC01389 (A170T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2448367	NM_012186.3(FOXE3):c.908A>C (p.Glu303Ala)	FOXE3, LINC01389 (E303A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2448366	NM_012186.3(FOXE3):c.82C>A (p.Pro28Thr)	FOXE3, LINC01389 (P28T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2448365	NM_012186.3(FOXE3):c.6G>A (p.Ala2=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2448364	NM_012186.3(FOXE3):c.143G>C (p.Arg48Pro)	FOXE3, LINC01389 (R48P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2448363	NM_012186.3(FOXE3):c.86C>G (p.Pro29Arg)	FOXE3, LINC01389 (P29R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2448362	NM_012186.3(FOXE3):c.80C>T (p.Pro27Leu)	FOXE3, LINC01389 (P27L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2448361	NM_012186.3(FOXE3):c.103G>A (p.Ala35Thr)	LINC01389, FOXE3 (A35T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2448360	NM_012186.3(FOXE3):c.152C>A (p.Ala51Glu)	FOXE3, LINC01389 (A51E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2448359	NM_012186.3(FOXE3):c.167C>A (p.Ala56Glu)	FOXE3, LINC01389 (A56E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2448358	NM_012186.3(FOXE3):c.363C>T (p.His121=)	LINC01389, FOXE3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign

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