ClinVar for MedGen (Select 481378) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246029	NC_000006.11:g.(?_109765394)_(109798153_?)del	MICAL1, ZBTB24	Deletion	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GPathogenic
Select item 3246028	NC_000006.11:g.(?_109788836)_(109788957_?)del	ZBTB24	Deletion	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GPathogenic
Select item 3246027	NC_000006.11:g.(?_109787054)_(109803229_?)del	ZBTB24	Deletion	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GPathogenic
Select item 3023380	NM_014797.3(ZBTB24):c.1288+15C>T	ZBTB24	Single nucleotide variant (intron variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 3020898	NM_014797.3(ZBTB24):c.207G>A (p.Glu69=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 3020536	NM_014797.3(ZBTB24):c.1137C>T (p.Thr379=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 3018197	NM_014797.3(ZBTB24):c.384C>T (p.Phe128=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 3017716	NM_014797.3(ZBTB24):c.618A>T (p.Val206=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 3009638	NM_014797.3(ZBTB24):c.645A>G (p.Glu215=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 3007171	NM_014797.3(ZBTB24):c.1728G>A (p.Val576=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 3007115	NM_014797.3(ZBTB24):c.975T>C (p.Asn325=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 3004627	NM_014797.3(ZBTB24):c.997C>T (p.Gln333Ter)	ZBTB24 (Q333*)	Single nucleotide variant (nonsense)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GPathogenic
Select item 3000216	NM_014797.3(ZBTB24):c.2079C>G (p.Gly693=)	MICAL1, ZBTB24	Single nucleotide variant (5 prime UTR variant +1 more)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 3000178	NM_014797.3(ZBTB24):c.1289-23_1289-20del	ZBTB24	Deletion (intron variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2999791	NM_014797.3(ZBTB24):c.1320C>G (p.Gly440=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2998416	NM_014797.3(ZBTB24):c.1755T>C (p.Thr585=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2996956	NM_014797.3(ZBTB24):c.1121-13G>T	ZBTB24	Single nucleotide variant (intron variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2996890	NM_014797.3(ZBTB24):c.936C>T (p.His312=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2991278	NM_014797.3(ZBTB24):c.1288+10C>G	ZBTB24	Single nucleotide variant (intron variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2990088	NM_014797.3(ZBTB24):c.1959G>A (p.Glu653=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2986163	NM_014797.3(ZBTB24):c.769A>C (p.Arg257=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2981724	NM_014797.3(ZBTB24):c.948C>T (p.His316=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2980152	NM_014797.3(ZBTB24):c.1074T>C (p.Ala358=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2978531	NM_014797.3(ZBTB24):c.462A>G (p.Lys154=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2976210	NM_014797.3(ZBTB24):c.1641G>A (p.Ser547=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2970967	NM_014797.3(ZBTB24):c.1383A>G (p.Pro461=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2970599	NM_014797.3(ZBTB24):c.1623A>G (p.Pro541=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2969403	NM_014797.3(ZBTB24):c.819A>G (p.Gln273=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2965882	NM_014797.3(ZBTB24):c.129G>A (p.Val43=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2957631	NM_014797.3(ZBTB24):c.1288+20G>C	ZBTB24	Single nucleotide variant (intron variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2956344	NM_014797.3(ZBTB24):c.593_594del (p.Phe198fs)	ZBTB24 (F198fs)	Deletion (frameshift variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GPathogenic
Select item 2956134	NM_014797.3(ZBTB24):c.66T>A (p.Thr22=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2955198	NM_014797.3(ZBTB24):c.1288+11A>G	ZBTB24	Single nucleotide variant (intron variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2915423	NM_014797.3(ZBTB24):c.795dup (p.Asp266fs)	ZBTB24 (D266fs)	Duplication (frameshift variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GPathogenic
Select item 2914458	NM_014797.3(ZBTB24):c.953-4C>G	ZBTB24	Single nucleotide variant (intron variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2908342	NM_014797.3(ZBTB24):c.345C>T (p.Phe115=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2906598	NM_014797.3(ZBTB24):c.1288+20G>A	ZBTB24	Single nucleotide variant (intron variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2903527	NM_014797.3(ZBTB24):c.953-13G>T	ZBTB24	Single nucleotide variant (intron variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2899954	NM_014797.3(ZBTB24):c.1671C>T (p.Thr557=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2899302	NM_014797.3(ZBTB24):c.1371-4dup	ZBTB24	Duplication (intron variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2896989	NM_014797.3(ZBTB24):c.729C>T (p.Thr243=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2896902	NM_014797.3(ZBTB24):c.210G>T (p.Gly70=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2890779	NM_014797.3(ZBTB24):c.1932A>G (p.Thr644=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2889740	NM_014797.3(ZBTB24):c.54T>C (p.Ala18=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2888685	NM_014797.3(ZBTB24):c.1062G>A (p.Val354=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2886581	NM_014797.3(ZBTB24):c.1289-17_1289-14del	ZBTB24	Deletion (intron variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2885707	NM_014797.3(ZBTB24):c.1371-7C>G	ZBTB24	Single nucleotide variant (intron variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2883774	NM_014797.3(ZBTB24):c.952+14C>T	ZBTB24	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2883366	NM_014797.3(ZBTB24):c.1289-17G>T	ZBTB24	Single nucleotide variant (intron variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2 +1 more	GLikely benign
Select item 2881975	NM_014797.3(ZBTB24):c.1557A>G (p.Ser519=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2880576	NM_014797.3(ZBTB24):c.1356C>T (p.His452=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2880060	NM_014797.3(ZBTB24):c.350_351del (p.Lys117fs)	ZBTB24 (K117fs)	Deletion (frameshift variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GPathogenic
Select item 2879709	NM_014797.3(ZBTB24):c.658G>T (p.Glu220Ter)	ZBTB24 (E220*)	Single nucleotide variant (nonsense)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GPathogenic
Select item 2879324	NM_014797.3(ZBTB24):c.1121-2A>G	ZBTB24	Single nucleotide variant (splice acceptor variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely pathogenic
Select item 2878692	NM_014797.3(ZBTB24):c.1806G>T (p.Leu602=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2873554	NM_014797.3(ZBTB24):c.120T>G (p.Thr40=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2872108	NM_014797.3(ZBTB24):c.771G>A (p.Arg257=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2870778	NM_014797.3(ZBTB24):c.825_844del (p.His276fs)	ZBTB24 (H276fs)	Deletion (frameshift variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GPathogenic
Select item 2870160	NM_014797.3(ZBTB24):c.105C>T (p.Phe35=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2869860	NM_014797.3(ZBTB24):c.2066C>T (p.Pro689Leu)	MICAL1, ZBTB24 (P689L)	Single nucleotide variant (5 prime UTR variant +1 more)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GUncertain significance
Select item 2867587	NM_014797.3(ZBTB24):c.183C>T (p.Tyr61=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2866507	NM_014797.3(ZBTB24):c.44_50del (p.His15fs)	ZBTB24 (H15fs)	Deletion (frameshift variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GPathogenic
Select item 2865191	NM_014797.3(ZBTB24):c.431del (p.Gly144fs)	ZBTB24 (G144fs)	Deletion (frameshift variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GPathogenic
Select item 2864019	NM_014797.3(ZBTB24):c.1120+18G>T	ZBTB24	Single nucleotide variant (intron variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2863511	NM_014797.3(ZBTB24):c.226_227del (p.Ile76fs)	ZBTB24 (I76fs)	Deletion (frameshift variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GPathogenic
Select item 2860238	NM_014797.3(ZBTB24):c.1121-15del	ZBTB24	Deletion (intron variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GBenign
Select item 2854628	NM_014797.3(ZBTB24):c.1804C>T (p.Leu602=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2853418	NM_014797.3(ZBTB24):c.201A>G (p.Ala67=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2850085	NM_014797.3(ZBTB24):c.1623A>T (p.Pro541=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2849706	NM_014797.3(ZBTB24):c.915C>T (p.Tyr305=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2844545	NM_014797.3(ZBTB24):c.1629A>G (p.Gln543=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2841373	NM_014797.3(ZBTB24):c.1272_1281del (p.Leu425fs)	ZBTB24 (L425fs)	Deletion (frameshift variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GPathogenic
Select item 2840471	NM_014797.3(ZBTB24):c.911_914del (p.Lys304fs)	ZBTB24 (K304fs)	Deletion (frameshift variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GPathogenic
Select item 2836598	NM_014797.3(ZBTB24):c.432T>C (p.Gly144=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2836589	NM_014797.3(ZBTB24):c.953-19T>C	ZBTB24	Single nucleotide variant (intron variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2834701	NM_014797.3(ZBTB24):c.1261C>T (p.Leu421=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2832781	NM_014797.3(ZBTB24):c.1288+18C>T	ZBTB24	Single nucleotide variant (intron variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2831449	NM_014797.3(ZBTB24):c.1785C>A (p.Leu595=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2830957	NM_014797.3(ZBTB24):c.426T>G (p.Thr142=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2830303	NM_014797.3(ZBTB24):c.1204+1G>A	ZBTB24	Single nucleotide variant (splice donor variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely pathogenic
Select item 2829672	NM_014797.3(ZBTB24):c.48A>C (p.Ser16=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2826285	NM_014797.3(ZBTB24):c.843G>A (p.Arg281=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2826131	NM_014797.3(ZBTB24):c.971_972delinsAA (p.Cys324Ter)	ZBTB24 (C324*)	Indel (nonsense)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GPathogenic
Select item 2825063	NM_014797.3(ZBTB24):c.1289-13T>A	ZBTB24	Single nucleotide variant (intron variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2824756	NM_014797.3(ZBTB24):c.1338G>A (p.Lys446=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2824515	NM_014797.3(ZBTB24):c.947A>G (p.His316Arg)	ZBTB24 (H316R)	Single nucleotide variant (missense variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GUncertain significance
Select item 2824034	NM_014797.3(ZBTB24):c.1767T>C (p.Ala589=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2821911	NM_014797.3(ZBTB24):c.1288+16G>T	ZBTB24	Single nucleotide variant (intron variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2819862	NM_014797.3(ZBTB24):c.952+17A>G	ZBTB24	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2819780	NM_014797.3(ZBTB24):c.1023C>A (p.Thr341=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2813411	NM_014797.3(ZBTB24):c.171C>G (p.Ala57=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2812381	NM_014797.3(ZBTB24):c.719A>T (p.Asp240Val)	ZBTB24 (D240V)	Single nucleotide variant (missense variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GUncertain significance
Select item 2809786	NM_014797.3(ZBTB24):c.868_875dup (p.Arg295fs)	ZBTB24 (R295fs)	Duplication (frameshift variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GPathogenic
Select item 2808698	NM_014797.3(ZBTB24):c.1289-3del	ZBTB24	Deletion (intron variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GBenign
Select item 2803872	NM_014797.3(ZBTB24):c.1395C>T (p.Gly465=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2803263	NM_014797.3(ZBTB24):c.1923C>T (p.Ser641=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2802369	NM_014797.3(ZBTB24):c.756A>G (p.Arg252=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2798322	NM_014797.3(ZBTB24):c.1120+18G>A	ZBTB24	Single nucleotide variant (intron variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2795379	NM_014797.3(ZBTB24):c.1296G>A (p.Lys432=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2794005	NM_014797.3(ZBTB24):c.1205-14A>G	ZBTB24	Single nucleotide variant (intron variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign

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