ClinVar for Gene (Select 55030) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338471	GRCh37/hg19 14q22.2-22.3(chr14:54866611-57272174)x1	ATG14, CDKN3 +16 more	Copy number loss	Syndromic microphthalmia type 5	GLikely pathogenic
Select item 3324811	NM_199047.3(TBPL2):c.899T>C (p.Met300Thr)	FBXO34, TBPL2 (M300T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320804	NM_014924.5(ATG14):c.71G>A (p.Arg24Gln)	ATG14, FBXO34 (R24Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320798	NM_014924.5(ATG14):c.25G>A (p.Ala9Thr)	ATG14, FBXO34 (A9T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320792	NM_014924.5(ATG14):c.44C>G (p.Pro15Arg)	ATG14, FBXO34 (P15R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320788	NM_014924.5(ATG14):c.1465A>G (p.Thr489Ala)	ATG14, FBXO34 (T489A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320781	NM_014924.5(ATG14):c.1271T>G (p.Val424Gly)	ATG14, FBXO34 (V424G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320777	NM_014924.5(ATG14):c.344C>T (p.Ser115Phe)	FBXO34, ATG14 (S115F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278157	NM_017943.4(FBXO34):c.593G>C (p.Gly198Ala)	FBXO34 (G198A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278156	NM_017943.4(FBXO34):c.590A>G (p.Asp197Gly)	FBXO34 (D197G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278154	NM_017943.4(FBXO34):c.139G>A (p.Val47Ile)	FBXO34 (V47I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174889	NM_199047.3(TBPL2):c.809G>C (p.Arg270Thr)	FBXO34, TBPL2 (R270T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174888	NM_199047.3(TBPL2):c.757G>C (p.Ala253Pro)	FBXO34, TBPL2 (A253P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174887	NM_199047.3(TBPL2):c.734T>C (p.Val245Ala)	FBXO34, TBPL2 (V245A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174886	NM_199047.3(TBPL2):c.547T>G (p.Leu183Val)	FBXO34, TBPL2 (L183V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174885	NM_199047.3(TBPL2):c.-38C>T	FBXO34, TBPL2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 3174884	NM_199047.3(TBPL2):c.-50C>G	FBXO34, TBPL2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 3174883	NM_199047.3(TBPL2):c.345C>G (p.Asn115Lys)	FBXO34, TBPL2 (N115K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174882	NM_199047.3(TBPL2):c.953C>T (p.Thr318Ile)	FBXO34, TBPL2 (T318I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130886	NM_014924.5(ATG14):c.917C>T (p.Ala306Val)	ATG14, FBXO34 (A306V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130884	NM_014924.5(ATG14):c.895C>T (p.Pro299Ser)	ATG14, FBXO34 (P299S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130883	NM_014924.5(ATG14):c.882G>A (p.Met294Ile)	ATG14, FBXO34 (M294I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130882	NM_014924.5(ATG14):c.880A>G (p.Met294Val)	ATG14, FBXO34 (M294V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130881	NM_014924.5(ATG14):c.842G>T (p.Ser281Ile)	ATG14, FBXO34 (S281I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130880	NM_014924.5(ATG14):c.836A>G (p.Tyr279Cys)	ATG14, FBXO34 (Y279C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130878	NM_014924.5(ATG14):c.551G>T (p.Arg184Ile)	ATG14, FBXO34 (R184I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130877	NM_014924.5(ATG14):c.317C>T (p.Thr106Ile)	ATG14, FBXO34 (T106I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130876	NM_014924.5(ATG14):c.22G>C (p.Gly8Arg)	ATG14, FBXO34 (G8R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130875	NM_014924.5(ATG14):c.15T>G (p.Ser5Arg)	ATG14, FBXO34 (S5R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130874	NM_014924.5(ATG14):c.1268G>A (p.Arg423His)	ATG14, FBXO34 (R423H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3130873	NM_014924.5(ATG14):c.1246T>C (p.Ser416Pro)	ATG14, FBXO34 (S416P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130872	NM_014924.5(ATG14):c.1220T>C (p.Phe407Ser)	ATG14, FBXO34 (F407S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130871	NM_014924.5(ATG14):c.1173G>T (p.Arg391Ser)	ATG14, FBXO34 (R391S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130870	NM_014924.5(ATG14):c.1135A>C (p.Met379Leu)	ATG14, FBXO34 (M379L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130869	NM_014924.5(ATG14):c.107T>C (p.Leu36Pro)	ATG14, FBXO34 (L36P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093698	NM_017943.4(FBXO34):c.956A>G (p.Asn319Ser)	FBXO34 (N319S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093695	NM_017943.4(FBXO34):c.697C>T (p.Pro233Ser)	FBXO34 (P233S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093694	NM_017943.4(FBXO34):c.65C>T (p.Thr22Met)	FBXO34 (T22M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093693	NM_017943.4(FBXO34):c.578G>T (p.Ser193Ile)	FBXO34 (S193I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093692	NM_017943.4(FBXO34):c.1965C>G (p.Cys655Trp)	FBXO34 (C655W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093691	NM_017943.4(FBXO34):c.1727C>A (p.Ala576Asp)	FBXO34 (A576D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093690	NM_017943.4(FBXO34):c.1417T>C (p.Ser473Pro)	FBXO34 (S473P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093689	NM_017943.4(FBXO34):c.1394A>G (p.Lys465Arg)	FBXO34 (K465R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093688	NM_017943.4(FBXO34):c.137G>C (p.Ser46Thr)	FBXO34 (S46T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3061843	GRCh38/hg38 14q22.2-22.3(chr14:53949639-56297420)x1	LOC130055670, LOC130055671 +89 more	Copy number loss	Dystonia 5	GPathogenic
Select item 2685487	GRCh37/hg19 14q22.3-23.2(chr14:55667390-64447598)x1	HIF1A, HIF1A-AS2 +47 more	Copy number loss	not provided	GPathogenic
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2644254	NM_199047.3(TBPL2):c.768C>T (p.Leu256=)	FBXO34, TBPL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2644253	NM_014924.5(ATG14):c.949C>T (p.Leu317=)	ATG14, FBXO34	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2613735	NM_017943.4(FBXO34):c.2086C>G (p.Arg696Gly)	FBXO34 (R696G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613621	NM_014924.5(ATG14):c.541A>G (p.Ile181Val)	ATG14, FBXO34 (I181V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613130	NM_014924.5(ATG14):c.287T>C (p.Val96Ala)	ATG14, FBXO34 (V96A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607588	NM_014924.5(ATG14):c.683C>G (p.Ala228Gly)	ATG14, FBXO34 (A228G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607486	NM_199047.3(TBPL2):c.8A>G (p.Gln3Arg)	FBXO34, TBPL2 (Q3R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2566195	NM_014924.5(ATG14):c.260G>T (p.Ser87Ile)	ATG14, FBXO34 (S87I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558050	NM_014924.5(ATG14):c.52G>T (p.Gly18Trp)	ATG14, FBXO34 (G18W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550709	NM_017943.4(FBXO34):c.137G>T (p.Ser46Ile)	FBXO34 (S46I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548734	NM_199047.3(TBPL2):c.967C>T (p.Arg323Cys)	FBXO34, TBPL2 (R323C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547697	NM_199047.3(TBPL2):c.862T>C (p.Tyr288His)	FBXO34, TBPL2 (Y288H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545034	NM_017943.4(FBXO34):c.1723A>G (p.Met575Val)	FBXO34 (M575V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544284	NM_017943.4(FBXO34):c.1175G>A (p.Gly392Asp)	FBXO34 (G392D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2543771	NM_199047.3(TBPL2):c.632A>G (p.Glu211Gly)	FBXO34, TBPL2 (E211G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539558	NM_017943.4(FBXO34):c.1138G>T (p.Val380Leu)	FBXO34 (V380L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539067	NM_014924.5(ATG14):c.1061A>T (p.Asn354Ile)	ATG14, FBXO34 (N354I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538210	NM_017943.4(FBXO34):c.622A>T (p.Ile208Leu)	FBXO34 (I208L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535679	NM_014924.5(ATG14):c.1207G>C (p.Glu403Gln)	ATG14, FBXO34 (E403Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533305	NM_199047.3(TBPL2):c.-20C>G	FBXO34, TBPL2	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2528479	NM_017943.4(FBXO34):c.284C>T (p.Thr95Met)	FBXO34 (T95M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527998	NM_017943.4(FBXO34):c.25C>T (p.Leu9Phe)	FBXO34 (L9F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526060	NM_017943.4(FBXO34):c.838C>T (p.Leu280Phe)	FBXO34 (L280F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524398	NM_017943.4(FBXO34):c.1225G>A (p.Asp409Asn)	FBXO34 (D409N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519609	NM_014924.5(ATG14):c.566G>A (p.Arg189His)	ATG14, FBXO34 (R189H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510926	NM_017943.4(FBXO34):c.1998G>A (p.Met666Ile)	FBXO34 (M666I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510249	NM_017943.4(FBXO34):c.833G>A (p.Arg278His)	FBXO34 (R278H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475682	NM_017943.4(FBXO34):c.1252T>C (p.Ser418Pro)	FBXO34 (S418P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2474423	NM_199047.3(TBPL2):c.631G>A (p.Glu211Lys)	FBXO34, TBPL2 (E211K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468000	NM_199047.3(TBPL2):c.142G>A (p.Ala48Thr)	FBXO34, TBPL2 (A48T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460635	NM_014924.5(ATG14):c.389G>A (p.Gly130Glu)	ATG14, FBXO34 (G130E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454608	NM_017943.4(FBXO34):c.1808G>A (p.Cys603Tyr)	FBXO34 (C603Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408410	NM_014924.5(ATG14):c.73G>A (p.Asp25Asn)	ATG14, FBXO34 (D25N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391894	NM_199047.3(TBPL2):c.898A>G (p.Met300Val)	FBXO34, TBPL2 (M300V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374976	NM_017943.4(FBXO34):c.1009G>C (p.Asp337His)	FBXO34 (D337H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358298	NM_014924.5(ATG14):c.1396G>A (p.Ala466Thr)	ATG14, FBXO34 (A466T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2355788	NM_199047.3(TBPL2):c.134C>T (p.Pro45Leu)	FBXO34, TBPL2 (P45L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355325	NM_017943.4(FBXO34):c.1589C>T (p.Pro530Leu)	FBXO34 (P530L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351786	NM_017943.4(FBXO34):c.890G>A (p.Arg297His)	FBXO34 (R297H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339548	NM_017943.4(FBXO34):c.869G>A (p.Cys290Tyr)	FBXO34 (C290Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337948	NM_017943.4(FBXO34):c.1546G>C (p.Gly516Arg)	FBXO34 (G516R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336741	NM_199047.3(TBPL2):c.730C>T (p.Arg244Cys)	FBXO34, TBPL2 (R244C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334816	NM_199047.3(TBPL2):c.319G>A (p.Glu107Lys)	FBXO34, TBPL2 (E107K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332767	NM_017943.4(FBXO34):c.267G>T (p.Lys89Asn)	FBXO34 (K89N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331696	NM_014924.5(ATG14):c.248G>A (p.Ser83Asn)	ATG14, FBXO34 (S83N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324596	NM_014924.5(ATG14):c.1435G>C (p.Ala479Pro)	ATG14, FBXO34 (A479P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311304	NM_017943.4(FBXO34):c.821G>A (p.Ser274Asn)	FBXO34 (S274N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306850	NM_017943.4(FBXO34):c.846G>C (p.Met282Ile)	FBXO34 (M282I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302507	NM_199047.3(TBPL2):c.32A>G (p.Tyr11Cys)	FBXO34, TBPL2 (Y11C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296411	NM_017943.4(FBXO34):c.535C>A (p.Pro179Thr)	FBXO34 (P179T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274091	NM_014924.5(ATG14):c.910A>G (p.Ser304Gly)	ATG14, FBXO34 (S304G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265416	NM_017943.4(FBXO34):c.586G>A (p.Gly196Arg)	FBXO34 (G196R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260918	NM_199047.3(TBPL2):c.287A>C (p.Gln96Pro)	FBXO34, TBPL2 (Q96P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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