"Invitae"[submitter] AND "ZBTB18"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2048767	NM_205768.3(ZBTB18):c.13+13A>G	ZBTB18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 741591	NM_205768.3(ZBTB18):c.27T>C (p.Ser9=)	ZBTB18	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2181257	NM_205768.3(ZBTB18):c.72C>T (p.Ser24=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2793518	NM_205768.3(ZBTB18):c.102C>G (p.Asp34Glu)	ZBTB18 (D25E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809925	NM_205768.3(ZBTB18):c.104G>A (p.Cys35Tyr)	ZBTB18 (C26Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 431091	NM_205768.3(ZBTB18):c.142C>T (p.Arg48Ter)	ZBTB18 (R48* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 22 +1 more	GConflicting classifications of pathogenicity
Select item 728140	NM_205768.3(ZBTB18):c.159A>G (p.Ser53=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2771053	NM_205768.3(ZBTB18):c.217C>G (p.His73Asp)	ZBTB18 (H64D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2124850	NM_205768.3(ZBTB18):c.246C>T (p.Pro82=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 722814	NM_205768.3(ZBTB18):c.252C>T (p.Phe84=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867443	NM_205768.3(ZBTB18):c.253G>A (p.Ala85Thr)	ZBTB18 (A85T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2094617	NM_205768.3(ZBTB18):c.306C>T (p.Pro102=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2782431	NM_205768.3(ZBTB18):c.309T>C (p.Ile103=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 727702	NM_205768.3(ZBTB18):c.315C>T (p.Asp105=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 788722	NM_205768.3(ZBTB18):c.339C>T (p.Leu113=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1993076	NM_205768.3(ZBTB18):c.362T>G (p.Val121Gly)	ZBTB18 (V121G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1973703	NM_205768.3(ZBTB18):c.372G>C (p.Lys124Asn)	ZBTB18 (K124N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2832535	NM_205768.3(ZBTB18):c.387A>G (p.Lys129=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890619	NM_205768.3(ZBTB18):c.396G>A (p.Thr132=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2045837	NM_205768.3(ZBTB18):c.406A>G (p.Ser136Gly)	ZBTB18 (S136G +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2826241	NM_205768.3(ZBTB18):c.407G>A (p.Ser136Asn)	ZBTB18 (S127N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2893753	NM_205768.3(ZBTB18):c.462C>T (p.Ser154=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2715892	NM_205768.3(ZBTB18):c.463G>A (p.Asp155Asn)	ZBTB18 (D146N +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2888450	NM_205768.3(ZBTB18):c.486C>T (p.Gly162=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2180896	NM_205768.3(ZBTB18):c.528G>A (p.Leu176=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1931045	NM_205768.3(ZBTB18):c.557C>T (p.Ala186Val)	ZBTB18 (A177V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1973655	NM_205768.3(ZBTB18):c.558G>A (p.Ala186=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 751876	NM_205768.3(ZBTB18):c.561C>T (p.Ala187=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2108573	NM_205768.3(ZBTB18):c.562G>A (p.Glu188Lys)	ZBTB18 (E179K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2716612	NM_205768.3(ZBTB18):c.586T>C (p.Leu196=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2737995	NM_205768.3(ZBTB18):c.605G>A (p.Gly202Asp)	ZBTB18 (G193D +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2886723	NM_205768.3(ZBTB18):c.616G>C (p.Ala206Pro)	ZBTB18 (A206P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1976538	NM_205768.3(ZBTB18):c.620G>A (p.Gly207Asp)	ZBTB18 (G198D +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2726547	NM_205768.3(ZBTB18):c.621C>T (p.Gly207=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2147112	NM_205768.3(ZBTB18):c.638A>G (p.His213Arg)	ZBTB18 (H204R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2088055	NM_205768.3(ZBTB18):c.640G>A (p.Ala214Thr)	ZBTB18 (A214T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2009978	NM_205768.3(ZBTB18):c.640_641delinsCT (p.Ala214Leu)	ZBTB18 (A214L +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 2059833	NM_205768.3(ZBTB18):c.714C>T (p.Ser238=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2784102	NM_205768.3(ZBTB18):c.715G>A (p.Val239Met)	ZBTB18 (V239M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2183124	NM_205768.3(ZBTB18):c.726G>A (p.Ser242=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1914545	NM_205768.3(ZBTB18):c.816C>T (p.Asp272=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2127216	NM_205768.3(ZBTB18):c.822G>A (p.Leu274=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2066844	NM_205768.3(ZBTB18):c.831C>T (p.Asn277=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2917239	NM_205768.3(ZBTB18):c.832C>G (p.Leu278Val)	ZBTB18 (L269V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2871631	NM_205768.3(ZBTB18):c.834G>A (p.Leu278=)	ZBTB18	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2115827	NM_205768.3(ZBTB18):c.837G>A (p.Val279=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1325540	NM_205768.3(ZBTB18):c.896A>G (p.Tyr299Cys)	ZBTB18 (Y290C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2717671	NM_205768.3(ZBTB18):c.914C>G (p.Thr305Ser)	ZBTB18 (T296S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 744178	NM_205768.3(ZBTB18):c.960G>A (p.Pro320=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2754946	NM_205768.3(ZBTB18):c.985_1002dup (p.Glu334_Leu335insAspSerValLeuArgGlu)	ZBTB18	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 1013559	NM_205768.3(ZBTB18):c.977T>C (p.Leu326Pro)	ZBTB18 (L317P +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 734581	NM_205768.3(ZBTB18):c.990G>C (p.Ser330=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907809	NM_205768.3(ZBTB18):c.1010G>A (p.Arg337Gln)	ZBTB18 (R337Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2744125	NM_205768.3(ZBTB18):c.1012del (p.Glu338fs)	ZBTB18 (E338fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2776762	NM_205768.3(ZBTB18):c.1017C>T (p.Asp339=)	ZBTB18	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2151115	NM_205768.3(ZBTB18):c.1037TGA[1] (p.Met347del)	ZBTB18 (M338del +1 more)	Microsatellite (inframe_deletion +1 more)	not provided	GLikely benign
Select item 2126445	NM_205768.3(ZBTB18):c.1040T>C (p.Met347Thr)	ZBTB18 (M338T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2776352	NM_205768.3(ZBTB18):c.1045C>T (p.Pro349Ser)	ZBTB18 (P349S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2782724	NM_205768.3(ZBTB18):c.1046C>T (p.Pro349Leu)	ZBTB18 (P340L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 932658	NM_205768.3(ZBTB18):c.1053C>T (p.Ser351=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1027957	NM_205768.3(ZBTB18):c.1054G>A (p.Glu352Lys)	ZBTB18 (E352K +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 22 +1 more	GConflicting classifications of pathogenicity
Select item 1956459	NM_205768.3(ZBTB18):c.1057C>T (p.Arg353Cys)	ZBTB18 (R344C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007409	NM_205768.3(ZBTB18):c.1058G>A (p.Arg353His)	ZBTB18 (R353H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1719490	NM_205768.3(ZBTB18):c.1060G>A (p.Val354Ile)	ZBTB18 (V345I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1719551	NM_205768.3(ZBTB18):c.1080G>A (p.Met360Ile)	ZBTB18 (M351I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2855630	NM_205768.3(ZBTB18):c.1083G>C (p.Glu361Asp)	ZBTB18 (E352D +1 more)	Single nucleotide variant (missense variant +1 more)	ZBTB18-related condition +1 more	GBenign/Likely benign
Select item 2869588	NM_205768.3(ZBTB18):c.1085G>A (p.Ser362Asn)	ZBTB18 (S353N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2853043	NM_205768.3(ZBTB18):c.1094T>C (p.Leu365Pro)	ZBTB18 (L356P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2143549	NM_205768.3(ZBTB18):c.1095C>A (p.Leu365=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1971786	NM_205768.3(ZBTB18):c.1122C>T (p.Pro374=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 732640	NM_205768.3(ZBTB18):c.1124C>T (p.Ala375Val)	ZBTB18 (A366V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1369189	NM_205768.3(ZBTB18):c.1185G>T (p.Gln395His)	ZBTB18 (Q395H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 740741	NM_205768.3(ZBTB18):c.1206C>T (p.Phe402=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2755354	NM_205768.3(ZBTB18):c.1209C>T (p.Arg403=)	ZBTB18	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2979373	NM_205768.3(ZBTB18):c.1221C>T (p.Gly407=)	ZBTB18	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 737716	NM_205768.3(ZBTB18):c.1237G>A (p.Ala413Thr)	ZBTB18 (A404T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2787047	NM_205768.3(ZBTB18):c.1239C>T (p.Ala413=)	ZBTB18	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2880912	NM_205768.3(ZBTB18):c.1240G>A (p.Ala414Thr)	ZBTB18 (A405T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2188918	NM_205768.3(ZBTB18):c.1242C>T (p.Ala414=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2905129	NM_205768.3(ZBTB18):c.1250A>G (p.Asn417Ser)	ZBTB18 (N408S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2894926	NM_205768.3(ZBTB18):c.1275G>A (p.Gly425=)	ZBTB18	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 863649	NM_205768.3(ZBTB18):c.1287_1288del (p.Cys430fs)	ZBTB18 (C421fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1298468	NM_205768.3(ZBTB18):c.1299C>A (p.Thr433=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2911651	NM_205768.3(ZBTB18):c.1305G>A (p.Lys435=)	ZBTB18	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1708224	NM_205768.3(ZBTB18):c.1306C>T (p.Arg436Cys)	ZBTB18 (R427C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 22 +1 more	GLikely pathogenic
Select item 976114	NM_205768.3(ZBTB18):c.1307G>A (p.Arg436His)	ZBTB18 (R427H +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 22 +1 more	GConflicting classifications of pathogenicity
Select item 2815264	NM_205768.3(ZBTB18):c.1312G>A (p.Glu438Lys)	ZBTB18 (E429K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1605348	NM_205768.3(ZBTB18):c.1326G>A (p.Ser442=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 745590	NM_205768.3(ZBTB18):c.1344A>G (p.Thr448=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 753897	NM_205768.3(ZBTB18):c.1350C>G (p.Thr450=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2063220	NM_205768.3(ZBTB18):c.1356C>T (p.Cys452=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2140447	NM_205768.3(ZBTB18):c.1371G>A (p.Gln457=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2164330	NM_205768.3(ZBTB18):c.1377G>A (p.Ser459=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2087073	NM_205768.3(ZBTB18):c.1380C>T (p.His460=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881889	NM_205768.3(ZBTB18):c.1392C>T (p.Arg464=)	ZBTB18	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 736972	NM_205768.3(ZBTB18):c.1398C>T (p.Ala466=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1066831	NM_205768.3(ZBTB18):c.1406A>G (p.His469Arg)	ZBTB18 (H460R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 22 +1 more	GPathogenic/Likely pathogenic
Select item 2129019	NM_205768.3(ZBTB18):c.1407C>T (p.His469=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1975997	NM_205768.3(ZBTB18):c.1413C>T (p.Arg471=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2081705	NM_205768.3(ZBTB18):c.1422G>A (p.Pro474=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GBenign

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