ClinVar for Gene (Select 49854) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3333886	NM_001098402.2(ZBTB21):c.508G>A (p.Val170Ile)	ZBTB21 (V170I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333885	NM_001098402.2(ZBTB21):c.2296C>G (p.His766Asp)	ZBTB21 (H766D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333884	NM_001098402.2(ZBTB21):c.823C>A (p.Pro275Thr)	ZBTB21 (P275T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333883	NM_001098402.2(ZBTB21):c.2569G>T (p.Asp857Tyr)	ZBTB21 (D857Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333882	NM_001098402.2(ZBTB21):c.668C>G (p.Ser223Cys)	ZBTB21 (S223C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333881	NM_001098402.2(ZBTB21):c.1711C>A (p.Pro571Thr)	ZBTB21 (P571T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333880	NM_001098402.2(ZBTB21):c.1376C>G (p.Ser459Cys)	ZBTB21 (S459C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333876	NM_001098402.2(ZBTB21):c.2897A>C (p.Glu966Ala)	ZBTB21 (E765A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333875	NM_001098402.2(ZBTB21):c.199C>A (p.Gln67Lys)	ZBTB21 (Q67K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333874	NM_001098402.2(ZBTB21):c.139G>A (p.Val47Ile)	ZBTB21 (V47I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333873	NM_001098402.2(ZBTB21):c.2284C>G (p.Leu762Val)	ZBTB21 (L762V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242283	GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not provided	GPathogenic
Select item 3191952	NM_001098402.2(ZBTB21):c.461G>C (p.Ser154Thr)	ZBTB21 (S154T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191951	NM_001098402.2(ZBTB21):c.3115T>C (p.Phe1039Leu)	ZBTB21 (F838L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191948	NM_001098402.2(ZBTB21):c.2942C>G (p.Ser981Cys)	ZBTB21 (S780C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191947	NM_001098402.2(ZBTB21):c.2932C>G (p.Pro978Ala)	ZBTB21 (P777A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191946	NM_001098402.2(ZBTB21):c.2511C>A (p.His837Gln)	ZBTB21 (H636Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191944	NM_001098402.2(ZBTB21):c.2013T>G (p.Ile671Met)	ZBTB21 (I671M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191943	NM_001098402.2(ZBTB21):c.1914G>C (p.Lys638Asn)	ZBTB21 (K638N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191942	NM_001098402.2(ZBTB21):c.1616G>A (p.Gly539Glu)	ZBTB21 (G539E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191941	NM_001098402.2(ZBTB21):c.1540G>A (p.Gly514Ser)	ZBTB21 (G514S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191940	NM_001098402.2(ZBTB21):c.1348G>A (p.Asp450Asn)	ZBTB21 (D450N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191939	NM_001098402.2(ZBTB21):c.1313C>T (p.Ser438Leu)	ZBTB21 (S438L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062429	GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3	CBR1, CBR3 +139 more	Copy number gain	not specified	GPathogenic
Select item 3062428	GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1	KCNJ15, KCNJ6 +118 more	Copy number loss	not specified	GPathogenic
Select item 3062426	GRCh37/hg19 21q22.3(chr21:43369956-48097372)x1	DNMT3L, PRMT2 +75 more	Copy number loss	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	ABCG1, ADAMTS1 +201 more	Copy number gain	not specified	GPathogenic
Select item 3062420	GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	ABCG1, ADARB1 +186 more	Copy number gain	not specified	GPathogenic
Select item 2685664	GRCh37/hg19 21q22.2-22.3(chr21:40681179-48097372)x1	ABCG1, ADARB1 +92 more	Copy number loss	not provided	GPathogenic
Select item 2684914	GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3	ABCG1, ADARB1 +148 more	Copy number gain	not provided	GPathogenic
Select item 2684910	GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3	CLDN14, CLDN17 +170 more	Copy number gain	not provided	GPathogenic
Select item 2672890	NM_001098402.2(ZBTB21):c.574C>A (p.Pro192Thr)	ZBTB21 (P192T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2623007	NM_001098402.2(ZBTB21):c.1322C>T (p.Ser441Leu)	ZBTB21 (S441L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618882	NM_001098402.2(ZBTB21):c.2705C>T (p.Pro902Leu)	ZBTB21 (P902L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612835	NM_001098402.2(ZBTB21):c.688A>G (p.Asn230Asp)	ZBTB21 (N230D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601452	NM_001098402.2(ZBTB21):c.181A>G (p.Asn61Asp)	ZBTB21 (N61D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597507	NM_001098402.2(ZBTB21):c.2225G>A (p.Arg742Gln)	ZBTB21 (R541Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595389	NM_001098402.2(ZBTB21):c.1132T>G (p.Cys378Gly)	ZBTB21 (C378G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593219	NM_001098402.2(ZBTB21):c.2915C>A (p.Ser972Tyr)	ZBTB21 (S972Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548507	NM_001098402.2(ZBTB21):c.1741C>T (p.His581Tyr)	ZBTB21 (H581Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546854	NM_001098402.2(ZBTB21):c.1760A>G (p.Asn587Ser)	ZBTB21 (N587S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543729	NM_001098402.2(ZBTB21):c.842C>T (p.Ser281Phe)	ZBTB21 (S281F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542749	NM_001098402.2(ZBTB21):c.1502A>C (p.Glu501Ala)	ZBTB21 (E501A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536564	NM_001098402.2(ZBTB21):c.1825A>G (p.Ser609Gly)	ZBTB21 (S609G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524795	NM_001098402.2(ZBTB21):c.2299G>A (p.Glu767Lys)	ZBTB21 (E767K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511672	NM_001098402.2(ZBTB21):c.2450A>G (p.Asn817Ser)	ZBTB21 (N817S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489763	NM_001098402.2(ZBTB21):c.2026G>A (p.Gly676Arg)	ZBTB21 (G676R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489345	NM_001098402.2(ZBTB21):c.3029A>G (p.Asn1010Ser)	ZBTB21 (N809S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485070	NM_001098402.2(ZBTB21):c.2281G>A (p.Glu761Lys)	ZBTB21 (E761K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478664	NM_001098402.2(ZBTB21):c.320A>G (p.Tyr107Cys)	ZBTB21 (Y107C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474779	NM_001098402.2(ZBTB21):c.38C>T (p.Ala13Val)	ZBTB21 (A13V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473301	NM_001098402.2(ZBTB21):c.523C>T (p.Arg175Trp)	ZBTB21 (R175W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471697	NM_001098402.2(ZBTB21):c.1537G>A (p.Glu513Lys)	ZBTB21 (E513K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467447	NM_001098402.2(ZBTB21):c.2276C>T (p.Ser759Leu)	ZBTB21 (S558L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465048	NM_001098402.2(ZBTB21):c.1924G>A (p.Gly642Ser)	ZBTB21 (G642S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2422361	NC_000021.8:g.(?_43160998)_(47754702_?)del	ABCG1, ADARB1 +74 more	Deletion	Progressive myoclonic epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 2396495	NM_001098402.2(ZBTB21):c.802C>G (p.Leu268Val)	ZBTB21 (L268V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389411	NM_001098402.2(ZBTB21):c.2933C>T (p.Pro978Leu)	ZBTB21 (P777L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385881	NM_001098402.2(ZBTB21):c.869A>G (p.Tyr290Cys)	ZBTB21 (Y290C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383136	NM_001098402.2(ZBTB21):c.1555C>T (p.Leu519Phe)	ZBTB21 (L519F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371305	NM_001098402.2(ZBTB21):c.2234G>A (p.Arg745Gln)	ZBTB21 (R544Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367668	NM_001098402.2(ZBTB21):c.1214A>G (p.His405Arg)	ZBTB21 (H405R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366325	NM_001098402.2(ZBTB21):c.2543G>A (p.Ser848Asn)	ZBTB21 (S647N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356062	NM_001098402.2(ZBTB21):c.1922G>A (p.Arg641His)	ZBTB21 (R641H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345235	NM_001098402.2(ZBTB21):c.1058A>G (p.Tyr353Cys)	ZBTB21 (Y353C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309407	NM_001098402.2(ZBTB21):c.1873A>G (p.Ile625Val)	ZBTB21 (I625V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300423	NM_001098402.2(ZBTB21):c.2132C>T (p.Pro711Leu)	ZBTB21 (P711L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291587	NM_001098402.2(ZBTB21):c.506A>T (p.Asp169Val)	ZBTB21 (D169V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285974	NM_001098402.2(ZBTB21):c.2374C>T (p.Arg792Trp)	ZBTB21 (R792W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267626	NM_001098402.2(ZBTB21):c.1823C>T (p.Ser608Phe)	ZBTB21 (S608F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259550	NM_001098402.2(ZBTB21):c.524G>A (p.Arg175Gln)	ZBTB21 (R175Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258599	NM_001098402.2(ZBTB21):c.2011A>G (p.Ile671Val)	ZBTB21 (I671V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255040	NM_001098402.2(ZBTB21):c.3034A>G (p.Thr1012Ala)	ZBTB21 (T1012A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2252468	NM_001098402.2(ZBTB21):c.2368A>G (p.Ile790Val)	ZBTB21 (I589V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231381	NM_001098402.2(ZBTB21):c.2067A>G (p.Ile689Met)	ZBTB21 (I689M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228190	NM_001098402.2(ZBTB21):c.2233C>T (p.Arg745Trp)	ZBTB21 (R544W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219685	NM_001098402.2(ZBTB21):c.2221G>A (p.Glu741Lys)	ZBTB21 (E741K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219333	NM_001098402.2(ZBTB21):c.71G>A (p.Arg24His)	ZBTB21 (R24H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212125	NM_001098402.2(ZBTB21):c.1336G>A (p.Val446Ile)	ZBTB21 (V446I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807697	GRCh37/hg19 21q22.2-22.3(chr21:42046399-45109188)x1	ABCG1, BACE2 +28 more	Copy number loss	not provided	GPathogenic
Select item 1705932	GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	Down syndrome	GPathogenic
Select item 1703616	GRCh37/hg19 21q22.3(chr21:42679089-48097372)	ABCG1, ADARB1 +81 more	Copy number loss	Delayed speech and language development	GPathogenic
Select item 1526720	GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372)	ABCG1, ADARB1 +83 more	Copy number loss	not specified	GPathogenic
Select item 1526706	GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)	ADAMTS1, ADAMTS5 +216 more	Copy number gain	not specified	GPathogenic
Select item 1526705	GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372)	KCNJ15, N6AMT1 +216 more	Copy number gain	not specified	GPathogenic
Select item 1458311	NC_000021.8:g.(?_43160998)_(47865240_?)del	ABCG1, ADARB1 +74 more	Deletion	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GPathogenic
Select item 1409580	NC_000021.8:g.(?_43160998)_(47865240_?)dup	KRTAP10-9, KRTAP12-1 +74 more	Duplication	Cataract 9 multiple types +2 more	GUncertain significance
Select item 1341200	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	not provided	GPathogenic
Select item 1321998	GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3	COL6A2, KRTAP20-3 +220 more	Copy number gain	See cases	GPathogenic
Select item 983157	GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 816508	GRCh37/hg19 21q22.2-22.3(chr21:42044877-48100155)x3	ABCG1, ADARB1 +84 more	Copy number gain	See cases	GPathogenic
Select item 816171	GRCh37/hg19 21q22.3(chr21:43342136-43456681)x1	ZBTB21, C2CD2	Copy number loss	not provided	GUncertain significance
Select item 816166	GRCh37/hg19 21q22.13-22.3(chr21:39410438-45171756)x1	CRYAA, GET1 +44 more	Copy number loss	not provided	GPathogenic
Select item 686229	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ATP5PF, IL10RB +217 more	Copy number gain	not provided	GPathogenic
Select item 635899	Single allele	ABCG1, BACE2 +10 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 626294	Single allele	ABCG1, ADARB1 +77 more	Duplication	not provided	GLikely pathogenic
Select item 625618	GRCh37/hg19 21q22.2-22.3(chr21:41537095-46914745)	ABCG1, ADARB1 +70 more	Copy number loss	not provided	GPathogenic
Select item 564676	GRCh37/hg19 21q22.2-22.3(chr21:42335622-48097372)x1	ABCG1, ADARB1 +83 more	Copy number loss	not provided	GPathogenic
Select item 564655	GRCh37/hg19 21q22.3(chr21:43415139-43845652)x3	UBASH3A, UMODL1 +6 more	Copy number gain	not provided	GUncertain significance

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