ClinVar for Gene (Select 130557) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3196326	NM_144631.6(ZNF513):c.981G>T (p.Glu327Asp)	ZNF513 (E265D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196325	NM_144631.6(ZNF513):c.92C>T (p.Ala31Val)	ZNF513 (A31V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3196324	NM_144631.6(ZNF513):c.262G>C (p.Glu88Gln)	ZNF513 (E26Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196322	NM_144631.6(ZNF513):c.1405G>A (p.Glu469Lys)	LOC129933376, ZNF513 (E469K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3030073	NM_144631.6(ZNF513):c.492C>T (p.His164=)	ZNF513	Single nucleotide variant (synonymous variant)	ZNF513-related disorder	GLikely benign
Select item 3028786	NM_144631.6(ZNF513):c.147A>G (p.Glu49=)	ZNF513	Single nucleotide variant (5 prime UTR variant +1 more)	Retinal dystrophy	GLikely benign
Select item 3028785	NM_144631.6(ZNF513):c.374G>A (p.Gly125Glu)	ZNF513 (G125E +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028784	NM_144631.6(ZNF513):c.537C>A (p.Arg179=)	ZNF513	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3028783	NM_144631.6(ZNF513):c.719G>A (p.Gly240Asp)	ZNF513 (G178D +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028782	NM_144631.6(ZNF513):c.1098C>T (p.Pro366=)	ZNF513	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3023330	NM_144631.6(ZNF513):c.56-18G>A	ZNF513	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3008662	NM_144631.6(ZNF513):c.196_197delinsAG (p.Glu66Arg)	ZNF513 (E66R +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 3004154	NM_144631.6(ZNF513):c.278G>T (p.Arg93Leu)	ZNF513 (R93L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992987	NM_144631.6(ZNF513):c.1594G>A (p.Gly532Ser)	ZNF513 (G532S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990060	NM_144631.6(ZNF513):c.169_174dup (p.Asn58_Ser59insGlyAsn)	ZNF513	Duplication (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2983864	NM_144631.6(ZNF513):c.831T>C (p.His277=)	ZNF513	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983630	NM_144631.6(ZNF513):c.1387A>G (p.Met463Val)	LOC129933376, ZNF513 (M401V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978246	NM_144631.6(ZNF513):c.199A>G (p.Arg67Gly)	ZNF513 (R67G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2971741	NM_144631.6(ZNF513):c.836C>T (p.Pro279Leu)	ZNF513 (P279L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960380	NM_144631.6(ZNF513):c.300A>G (p.Glu100=)	ZNF513	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2917262	NM_144631.6(ZNF513):c.711G>A (p.Pro237=)	ZNF513	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898223	NM_144631.6(ZNF513):c.1170C>T (p.Cys390=)	ZNF513	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893755	NM_144631.6(ZNF513):c.212-10A>G	ZNF513	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2882576	NM_144631.6(ZNF513):c.1578A>G (p.Pro526=)	ZNF513	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 2876458	NM_144631.6(ZNF513):c.1129C>T (p.Arg377Trp)	ZNF513 (R377W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2876077	NM_144631.6(ZNF513):c.607G>A (p.Glu203Lys)	ZNF513 (E203K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2863162	NM_144631.6(ZNF513):c.1551C>T (p.Pro517=)	ZNF513	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2858935	NM_144631.6(ZNF513):c.1544G>C (p.Ser515Thr)	ZNF513 (S515T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2849154	NM_144631.6(ZNF513):c.1057C>G (p.Gln353Glu)	ZNF513 (Q353E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2848228	NM_144631.6(ZNF513):c.730T>C (p.Cys244Arg)	ZNF513 (C244R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2837473	NM_144631.6(ZNF513):c.799+17A>G	ZNF513	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2837432	NM_144631.6(ZNF513):c.117A>C (p.Leu39=)	ZNF513	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2828550	NM_144631.6(ZNF513):c.696C>G (p.Pro232=)	ZNF513	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2822634	NM_144631.6(ZNF513):c.93C>G (p.Ala31=)	ZNF513	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2822617	NM_144631.6(ZNF513):c.1424_1431del (p.Ala475fs)	LOC129933376, ZNF513 (A475fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2821340	NM_144631.6(ZNF513):c.1034G>A (p.Gly345Glu)	ZNF513 (G345E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2815585	NM_144631.6(ZNF513):c.781G>T (p.Val261Leu)	ZNF513 (V261L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2815584	NM_144631.6(ZNF513):c.783G>C (p.Val261=)	ZNF513	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2813769	NM_144631.6(ZNF513):c.1604C>T (p.Ala535Val)	ZNF513 (A473V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2810182	NM_144631.6(ZNF513):c.382G>T (p.Gly128Cys)	ZNF513 (G128C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2809962	NM_144631.6(ZNF513):c.1198C>T (p.Leu400=)	ZNF513	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2801545	NM_144631.6(ZNF513):c.1198C>G (p.Leu400Val)	ZNF513 (L400V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2797036	NM_144631.6(ZNF513):c.232C>T (p.Pro78Ser)	ZNF513 (P78S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2795460	NM_144631.6(ZNF513):c.307G>A (p.Glu103Lys)	ZNF513 (E41K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2786190	NM_144631.6(ZNF513):c.869G>A (p.Gly290Glu)	ZNF513 (G228E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2786091	NM_144631.6(ZNF513):c.800-22_800-16del	ZNF513	Deletion (intron variant)	not provided	GUncertain significance
Select item 2784373	NM_144631.6(ZNF513):c.686C>A (p.Ala229Glu)	ZNF513 (A167E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2780588	NM_144631.6(ZNF513):c.119T>C (p.Leu40Pro)	ZNF513 (L40P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2777275	NM_144631.6(ZNF513):c.710C>A (p.Pro237Gln)	ZNF513 (P175Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2749774	NM_144631.6(ZNF513):c.342G>T (p.Glu114Asp)	ZNF513 (E114D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2748237	NM_144631.6(ZNF513):c.730T>A (p.Cys244Ser)	ZNF513 (C182S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2730388	NM_144631.6(ZNF513):c.1004T>C (p.Met335Thr)	ZNF513 (M273T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2728035	NM_144631.6(ZNF513):c.177T>C (p.Ser59=)	ZNF513	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2700151	NM_144631.6(ZNF513):c.313G>C (p.Ala105Pro)	ZNF513 (A43P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2695080	NM_144631.6(ZNF513):c.682C>T (p.His228Tyr)	ZNF513 (H166Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2636164	NM_144631.6(ZNF513):c.1021C>T (p.Arg341Ter)	ZNF513 (R279* +1 more)	Single nucleotide variant (nonsense)	ZNF513-related disorder	GUncertain significance
Select item 2629910	NM_144631.6(ZNF513):c.1567C>T (p.Arg523Trp)	ZNF513 (R461W +1 more)	Single nucleotide variant (missense variant)	ZNF513-related disorder +1 more	GUncertain significance
Select item 2612259	NM_144631.6(ZNF513):c.613C>T (p.Pro205Ser)	ZNF513 (P143S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612145	NM_144631.6(ZNF513):c.389G>T (p.Gly130Val)	ZNF513 (G130V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569587	NM_144631.6(ZNF513):c.428T>C (p.Leu143Pro)	ZNF513 (L143P +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2495305	NM_144631.6(ZNF513):c.1256C>T (p.Pro419Leu)	ZNF513 (P357L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485685	NM_144631.6(ZNF513):c.268G>C (p.Gly90Arg)	ZNF513 (G28R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427541	NC_000002.11:g.(?_24443763)_(29022169_?)dup	ZNF513, SLC5A6 +65 more	Duplication	not provided	GUncertain significance
Select item 2425074	NC_000002.11:g.(?_24443763)_(30143525_?)dup	SLC4A1AP, OTOF +72 more	Duplication	not provided	GUncertain significance
Select item 2415278	NM_144631.6(ZNF513):c.1341C>G (p.Ser447Arg)	LOC129933376, ZNF513 (S385R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2405446	NM_144631.6(ZNF513):c.412C>G (p.Pro138Ala)	ZNF513 (P138A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389422	NM_144631.6(ZNF513):c.46G>T (p.Gly16Trp)	ZNF513 (G16W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389421	NM_144631.6(ZNF513):c.44A>G (p.Glu15Gly)	ZNF513 (E15G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369823	NM_144631.6(ZNF513):c.553T>A (p.Tyr185Asn)	ZNF513 (Y123N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2334847	NM_144631.6(ZNF513):c.1270G>A (p.Ala424Thr)	ZNF513 (A362T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291859	NM_144631.6(ZNF513):c.1171G>C (p.Ala391Pro)	ZNF513 (A329P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291414	NM_144631.6(ZNF513):c.1549C>T (p.Pro517Ser)	ZNF513 (P455S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219433	NM_144631.6(ZNF513):c.91G>A (p.Ala31Thr)	ZNF513 (A31T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2201664	NM_144631.6(ZNF513):c.606C>T (p.Gly202=)	ZNF513	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2190053	NM_144631.6(ZNF513):c.858G>A (p.Leu286=)	ZNF513	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2189095	NM_144631.6(ZNF513):c.1230T>C (p.His410=)	ZNF513	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2177380	NM_144631.6(ZNF513):c.259G>A (p.Asp87Asn)	ZNF513 (D25N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175593	NM_144631.6(ZNF513):c.795T>C (p.Pro265=)	ZNF513	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2166524	NM_144631.6(ZNF513):c.626C>G (p.Pro209Arg)	ZNF513 (P147R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2155220	NM_144631.6(ZNF513):c.555C>T (p.Tyr185=)	ZNF513	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2152537	NM_144631.6(ZNF513):c.1059G>A (p.Gln353=)	ZNF513	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2135220	NM_144631.6(ZNF513):c.211+10C>T	ZNF513	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2129836	NM_144631.6(ZNF513):c.300A>C (p.Glu100Asp)	ZNF513 (E38D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2125954	NM_144631.6(ZNF513):c.1542T>C (p.His514=)	ZNF513	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2122507	NM_144631.6(ZNF513):c.165C>A (p.Gly55=)	ZNF513	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2105865	NM_144631.6(ZNF513):c.880G>C (p.Gly294Arg)	ZNF513 (G232R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2104715	NM_144631.6(ZNF513):c.1377C>T (p.Leu459=)	LOC129933376, ZNF513	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2103239	NM_144631.6(ZNF513):c.896T>C (p.Leu299Pro)	ZNF513 (L237P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2096806	NM_144631.6(ZNF513):c.391C>T (p.Pro131Ser)	ZNF513 (P131S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2096748	NM_144631.6(ZNF513):c.773A>G (p.Glu258Gly)	ZNF513 (E258G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2095171	NM_144631.6(ZNF513):c.19A>G (p.Ser7Gly)	ZNF513, LOC129933377 (S7G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2088971	NM_144631.6(ZNF513):c.585A>G (p.Arg195=)	ZNF513	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2084865	NM_144631.6(ZNF513):c.212-10_212-7dup	ZNF513	Duplication (intron variant)	not provided	GLikely benign
Select item 2064245	NM_144631.6(ZNF513):c.1616A>G (p.Asp539Gly)	ZNF513 (D477G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2055424	NM_144631.6(ZNF513):c.325G>A (p.Gly109Arg)	ZNF513 (G109R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2054385	NM_144631.6(ZNF513):c.677G>A (p.Arg226His)	ZNF513 (R164H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2052944	NM_144631.6(ZNF513):c.1497A>T (p.Ala499=)	ZNF513	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2052881	NM_144631.6(ZNF513):c.465C>T (p.Cys155=)	ZNF513	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2052591	NM_144631.6(ZNF513):c.746C>T (p.Ala249Val)	ZNF513 (A187V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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