7045[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 58361	GRCh38/hg38 5q31.1-31.2(chr5:133401565-138437038)x1	BRD8, C5orf15 +230 more	Copy number loss	See cases	GPathogenic
Select item 144268	GRCh38/hg38 5q31.1-31.3(chr5:135297294-140106003)x3	BRD8, CDC23 +236 more	Copy number gain	See cases	GPathogenic
Select item 58363	GRCh38/hg38 5q31.1-31.2(chr5:135894042-137619032)x1	CTB-1I21.1, IL9 +32 more	Copy number loss	See cases	GPathogenic
Select item 350864	NM_000358.2(TGFBI):c.-124C>A	TGFBI	Single nucleotide variant	Corneal Dystrophy, Dominant	GUncertain significance
Select item 350865	NM_000358.2(TGFBI):c.-106C>T	TGFBI	Single nucleotide variant	Corneal Dystrophy, Dominant	GUncertain significance
Select item 2318303	NM_000358.3(TGFBI):c.5C>G (p.Ala2Gly)	TGFBI (A2G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3325702	NM_000358.3(TGFBI):c.14T>C (p.Val5Ala)	TGFBI (V5A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352977	NM_000358.3(TGFBI):c.50G>C (p.Gly17Ala)	TGFBI (G17A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517053	NM_000358.3(TGFBI):c.67G>T (p.Ala23Ser)	TGFBI (A23S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347571	NM_000358.3(TGFBI):c.77C>T (p.Ala26Val)	TGFBI (A26V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3176653	NM_000358.3(TGFBI):c.114G>C (p.Arg38Ser)	TGFBI (R38S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 350866	NM_000358.3(TGFBI):c.134+14C>A	TGFBI	Single nucleotide variant (intron variant)	Corneal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 350867	NM_000358.3(TGFBI):c.141C>T (p.Asn47=)	TGFBI	Single nucleotide variant (synonymous variant)	Corneal dystrophy	GUncertain significance
Select item 2534098	NM_000358.3(TGFBI):c.190A>C (p.Asn64His)	TGFBI (N64H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3325704	NM_000358.3(TGFBI):c.206A>C (p.Tyr69Ser)	TGFBI (Y69S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3176658	NM_000358.3(TGFBI):c.224G>A (p.Gly75Asp)	TGFBI (G75D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1645832	NM_000358.3(TGFBI):c.233+3G>A	TGFBI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 350868	NM_000358.3(TGFBI):c.273C>T (p.Val91=)	TGFBI	Single nucleotide variant (synonymous variant)	Corneal dystrophy	GUncertain significance
Select item 350869	NM_000358.3(TGFBI):c.283A>G (p.Lys95Glu)	TGFBI (K95E)	Single nucleotide variant (missense variant)	Corneal dystrophy	GUncertain significance
Select item 3325706	NM_000358.3(TGFBI):c.307C>T (p.Leu103Phe)	TGFBI (L103F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 350870	NM_000358.3(TGFBI):c.321C>T (p.Tyr107=)	TGFBI	Single nucleotide variant (synonymous variant)	Corneal dystrophy	GUncertain significance
Select item 3325703	NM_000358.3(TGFBI):c.322G>A (p.Glu108Lys)	TGFBI (E108K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 906735	NM_000358.3(TGFBI):c.334G>A (p.Val112Ile)	TGFBI (V112I)	Single nucleotide variant (missense variant)	Corneal dystrophy	GUncertain significance
Select item 1404990	NM_000358.3(TGFBI):c.337G>A (p.Val113Ile)	TGFBI (V113I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 350871	NM_000358.3(TGFBI):c.348C>A (p.Thr116=)	TGFBI	Single nucleotide variant (synonymous variant)	Corneal dystrophy	GUncertain significance
Select item 1686350	NM_000358.3(TGFBI):c.367G>C (p.Asp123His)	TGFBI (D123H)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 7873	NM_000358.3(TGFBI):c.370C>A (p.Arg124Ser)	TGFBI (R124S)	Single nucleotide variant (missense variant)	Epithelial-stromal TGFBI dystrophy	GPathogenic
Select item 7868	NM_000358.3(TGFBI):c.370C>T (p.Arg124Cys)	TGFBI (R124C)	Single nucleotide variant (missense variant)	Epithelial-stromal TGFBI dystrophy +2 more	GPathogenic
Select item 7872	NM_000358.3(TGFBI):c.371G>T (p.Arg124Leu)	TGFBI (R124L)	Single nucleotide variant (missense variant)	Avellino corneal dystrophy +1 more	GPathogenic
Select item 7869	NM_000358.3(TGFBI):c.371G>A (p.Arg124His)	TGFBI (R124H)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 906736	NM_000358.3(TGFBI):c.387G>C (p.Arg129Ser)	TGFBI (R129S)	Single nucleotide variant (missense variant)	Corneal dystrophy	GUncertain significance
Select item 907740	NM_000358.3(TGFBI):c.393G>T (p.Glu131Asp)	TGFBI (E131D)	Single nucleotide variant (missense variant)	Corneal dystrophy	GUncertain significance
Select item 773700	NM_000358.3(TGFBI):c.423C>T (p.Phe141=)	TGFBI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3337666	NM_000358.3(TGFBI):c.424G>A (p.Ala142Thr)	TGFBI (A142T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2471836	NM_000358.3(TGFBI):c.446C>T (p.Ala149Val)	TGFBI (A149V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 350872	NM_000358.3(TGFBI):c.459+14C>T	TGFBI	Single nucleotide variant (intron variant)	Corneal dystrophy	GUncertain significance
Select item 2413981	NM_000358.3(TGFBI):c.460-17C>T	TGFBI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 255938	NM_000358.3(TGFBI):c.460-16C>T	TGFBI	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 350873	NM_000358.3(TGFBI):c.535C>T (p.Arg179Ter)	TGFBI (R179*)	Single nucleotide variant (nonsense)	Corneal dystrophy	GUncertain significance
Select item 2537939	NM_000358.3(TGFBI):c.562G>A (p.Gly188Ser)	TGFBI (G188S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 255939	NM_000358.3(TGFBI):c.651G>C (p.Leu217=)	TGFBI	Single nucleotide variant (synonymous variant)	Corneal dystrophy +2 more	GBenign
Select item 350874	NM_000358.3(TGFBI):c.675C>A (p.Thr225=)	TGFBI	Single nucleotide variant (synonymous variant)	Corneal dystrophy	GUncertain significance
Select item 350875	NM_000358.3(TGFBI):c.678C>T (p.Asn226=)	TGFBI	Single nucleotide variant (synonymous variant)	Corneal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 3034478	NM_000358.3(TGFBI):c.690C>T (p.His230=)	TGFBI	Single nucleotide variant (synonymous variant)	TGFBI-related disorder	GLikely benign
Select item 3176659	NM_000358.3(TGFBI):c.691C>T (p.Leu231Phe)	TGFBI (L231F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 350876	NM_000358.3(TGFBI):c.721A>G (p.Asn241Asp)	TGFBI (N241D)	Single nucleotide variant (missense variant)	Corneal dystrophy	GUncertain significance
Select item 907741	NM_000358.3(TGFBI):c.739A>C (p.Ile247Leu)	TGFBI (I247L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 752018	NM_000358.3(TGFBI):c.801G>C (p.Thr267=)	TGFBI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 741453	NM_000358.3(TGFBI):c.801G>A (p.Thr267=)	TGFBI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 750482	NM_000358.3(TGFBI):c.805C>T (p.Leu269Phe)	TGFBI (L269F)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 350877	NM_000358.3(TGFBI):c.816C>T (p.Asn272=)	TGFBI	Single nucleotide variant (synonymous variant)	Corneal dystrophy +1 more	GBenign
Select item 632449	NM_000358.3(TGFBI):c.820C>T (p.Gln274Ter)	TGFBI (Q274*)	Single nucleotide variant (nonsense)	Corneal dystrophy	GUncertain significance
Select item 746359	NM_000358.3(TGFBI):c.852C>A (p.Ala284=)	TGFBI	Single nucleotide variant (synonymous variant)	Corneal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 2313818	NM_000358.3(TGFBI):c.881A>G (p.Asn294Ser)	TGFBI (N294S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 904412	NM_000358.3(TGFBI):c.895G>A (p.Asp299Asn)	TGFBI (D299N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3343340	NM_000358.3(TGFBI):c.911G>A (p.Arg304Lys)	TGFBI (R304K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2408933	NM_000358.3(TGFBI):c.952G>A (p.Ala318Thr)	TGFBI (A318T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3176660	NM_000358.3(TGFBI):c.964G>A (p.Val322Ile)	TGFBI (V322I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 350878	NM_000358.3(TGFBI):c.968C>T (p.Ala323Val)	TGFBI (A323V)	Single nucleotide variant (missense variant)	Corneal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 350879	NM_000358.3(TGFBI):c.969G>A (p.Ala323=)	TGFBI	Single nucleotide variant (synonymous variant)	Corneal dystrophy	GUncertain significance
Select item 3325708	NM_000358.3(TGFBI):c.976T>G (p.Ser326Ala)	TGFBI (S326A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 255940	NM_000358.3(TGFBI):c.981A>G (p.Val327=)	TGFBI	Single nucleotide variant (synonymous variant)	Corneal dystrophy +2 more	GBenign
Select item 904413	NM_000358.3(TGFBI):c.1000A>G (p.Thr334Ala)	TGFBI (T334A)	Single nucleotide variant (missense variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 2458102	NM_000358.3(TGFBI):c.1025A>G (p.Asp342Gly)	TGFBI (D342G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 350880	NM_000358.3(TGFBI):c.1027A>G (p.Met343Val)	TGFBI (M343V)	Single nucleotide variant (missense variant)	Corneal dystrophy +1 more	GBenign
Select item 3325705	NM_000358.3(TGFBI):c.1028T>A (p.Met343Lys)	TGFBI (M343K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394634	NM_000358.3(TGFBI):c.1049C>T (p.Ala350Val)	TGFBI (A350V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 350881	NM_000358.3(TGFBI):c.1061A>G (p.Asn354Ser)	TGFBI (N354S)	Single nucleotide variant (missense variant)	Corneal dystrophy	GUncertain significance
Select item 2898876	NM_000358.3(TGFBI):c.1078A>T (p.Thr360Ser)	TGFBI (T360S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 350882	NM_000358.3(TGFBI):c.1083C>T (p.Asn361=)	TGFBI	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3176652	NM_000358.3(TGFBI):c.1100T>C (p.Ile367Thr)	TGFBI (I367T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 905209	NM_000358.3(TGFBI):c.1127-11C>T	LOC126807519, TGFBI	Single nucleotide variant (intron variant)	Corneal dystrophy	GUncertain significance
Select item 799398	NM_000358.3(TGFBI):c.1167C>T (p.Ser389=)	LOC126807519, TGFBI	Single nucleotide variant (synonymous variant)	Corneal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 905210	NM_000358.3(TGFBI):c.1193C>A (p.Ala398Asp)	LOC126807519, TGFBI (A398D)	Single nucleotide variant (missense variant)	Corneal dystrophy	GUncertain significance
Select item 905211	NM_000358.3(TGFBI):c.1194C>T (p.Ala398=)	TGFBI, LOC126807519	Single nucleotide variant (synonymous variant)	Corneal dystrophy	GUncertain significance
Select item 2255531	NM_000358.3(TGFBI):c.1199T>A (p.Leu400His)	LOC126807519, TGFBI (L400H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2895744	NM_000358.3(TGFBI):c.1200C>T (p.Leu400=)	LOC126807519, TGFBI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3325709	NM_000358.3(TGFBI):c.1221T>G (p.Ser407Arg)	LOC126807519, TGFBI (S407R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 350884	NM_000358.3(TGFBI):c.1265-11C>T	TGFBI	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 350883	NM_000358.3(TGFBI):c.1265-11C>A	TGFBI	Single nucleotide variant (intron variant)	Corneal dystrophy	GUncertain significance
Select item 350885	NM_000358.3(TGFBI):c.1284T>A (p.Asp428Glu)	TGFBI (D428E)	Single nucleotide variant (missense variant)	Corneal dystrophy	GUncertain significance
Select item 906802	NM_000358.3(TGFBI):c.1291A>G (p.Thr431Ala)	TGFBI (T431A)	Single nucleotide variant (missense variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 2570338	NM_000358.3(TGFBI):c.1306C>T (p.Arg436Trp)	TGFBI (R436W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 350886	NM_000358.3(TGFBI):c.1312C>T (p.His438Tyr)	TGFBI (H438Y)	Single nucleotide variant (missense variant)	Corneal dystrophy +1 more	GBenign
Select item 350887	NM_000358.3(TGFBI):c.1377C>T (p.Gly459=)	TGFBI	Single nucleotide variant (synonymous variant)	Corneal dystrophy	GLikely benign
Select item 2540619	NM_000358.3(TGFBI):c.1378G>A (p.Gly460Ser)	TGFBI (G460S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378724	NM_000358.3(TGFBI):c.1385A>C (p.Lys462Thr)	TGFBI (K462T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 906803	NM_000358.3(TGFBI):c.1405C>T (p.Arg469Cys)	TGFBI (R469C)	Single nucleotide variant (missense variant)	Corneal dystrophy	GUncertain significance
Select item 1175370	NM_000358.3(TGFBI):c.1406G>A (p.Arg469His)	TGFBI (R469H)	Single nucleotide variant (missense variant)	Granular corneal dystrophy	GLikely pathogenic
Select item 350888	NM_000358.3(TGFBI):c.1411-3C>T	TGFBI	Single nucleotide variant (intron variant)	Corneal dystrophy +1 more	GBenign
Select item 255936	NM_000358.3(TGFBI):c.1416C>T (p.Leu472=)	TGFBI	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2538545	NM_000358.3(TGFBI):c.1428C>G (p.Asn476Lys)	TGFBI (N476K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 742763	NM_000358.3(TGFBI):c.1439C>T (p.Ala480Val)	TGFBI (A480V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 782816	NM_000358.3(TGFBI):c.1446C>T (p.His482=)	TGFBI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 350889	NM_000358.3(TGFBI):c.1454G>A (p.Arg485Lys)	TGFBI (R485K)	Single nucleotide variant (missense variant)	Corneal dystrophy	GUncertain significance
Select item 2184470	NM_000358.3(TGFBI):c.1464C>T (p.Tyr488=)	TGFBI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 632450	NM_000358.3(TGFBI):c.1471del (p.Leu491fs)	TGFBI (L491fs)	Deletion (frameshift variant)	Corneal dystrophy	GUncertain significance

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