9841[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	AFG1L, AK9 +558 more	Copy number loss	See cases	GPathogenic
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC126859762, LOC126859763 +460 more	Copy number loss	See cases	GPathogenic
Select item 145430	GRCh38/hg38 6q16.3-21(chr6:102356502-111049879)x1	AFG1L, AK9 +208 more	Copy number loss	See cases	GPathogenic
Select item 154178	GRCh38/hg38 6q16.3-21(chr6:103279465-113934239)x1	AFG1L, AK9 +297 more	Copy number loss	See cases	GPathogenic
Select item 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	See cases	GPathogenic
Select item 148944	GRCh38/hg38 6q21-22.1(chr6:107370141-115827482)x1	AFG1L, AK9 +224 more	Copy number loss	See cases	GPathogenic
Select item 152877	GRCh38/hg38 6q21(chr6:107445281-110547907)x1	AFG1L, AK9 +104 more	Copy number loss	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic
Select item 2968838	NC_000006.12:g.109465658C>T	ZBTB24, MICAL1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1369944	NC_000006.12:g.109465661T>C	MICAL1, ZBTB24	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2080189	NM_001286613.2(MICAL1):c.11dup (p.Ser5fs)	MICAL1, ZBTB24 (S5fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2845768	NC_000006.12:g.109465671A>G	MICAL1, ZBTB24 (C3R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 539535	NM_014797.3(ZBTB24):c.2094A>G (p.Ter698Trp)	MICAL1, ZBTB24	Single nucleotide variant (5 prime UTR variant +1 more)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GUncertain significance
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 839315	NM_014797.3(ZBTB24):c.2078G>A (p.Gly693Asp)	MICAL1, ZBTB24 (G693D)	Single nucleotide variant (5 prime UTR variant +1 more)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2 +1 more	GUncertain significance
Select item 782475	NM_014797.3(ZBTB24):c.2070G>A (p.Thr690=)	MICAL1, ZBTB24	Single nucleotide variant (5 prime UTR variant +1 more)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GBenign
Select item 961133	NM_014797.3(ZBTB24):c.2069C>T (p.Thr690Met)	MICAL1, ZBTB24 (T690M)	Single nucleotide variant (5 prime UTR variant +1 more)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GUncertain significance
Select item 572865	NM_014797.3(ZBTB24):c.2068A>G (p.Thr690Ala)	MICAL1, ZBTB24 (T690A)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
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 2706210	NM_014797.3(ZBTB24):c.2058G>A (p.Val686=)	MICAL1, ZBTB24	Single nucleotide variant (5 prime UTR variant +1 more)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 1043466	NM_014797.3(ZBTB24):c.2056G>A (p.Val686Met)	MICAL1, ZBTB24 (V686M)	Single nucleotide variant (5 prime UTR variant +1 more)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2 +1 more	GUncertain significance
Select item 1542080	NM_014797.3(ZBTB24):c.2055C>T (p.His685=)	MICAL1, ZBTB24	Single nucleotide variant (5 prime UTR variant +1 more)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2061537	NM_014797.3(ZBTB24):c.2052C>T (p.His684=)	MICAL1, ZBTB24	Single nucleotide variant (5 prime UTR variant +1 more)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 963551	NM_014797.3(ZBTB24):c.2050C>T (p.His684Tyr)	MICAL1, ZBTB24 (H684Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2169779	NM_014797.3(ZBTB24):c.2041C>T (p.Pro681Ser)	MICAL1, ZBTB24 (P681S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1145112	NM_014797.3(ZBTB24):c.2037G>A (p.Pro679=)	MICAL1, ZBTB24	Single nucleotide variant (5 prime UTR variant +1 more)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 1496636	NM_014797.3(ZBTB24):c.2036C>T (p.Pro679Leu)	ZBTB24, MICAL1 (P679L)	Single nucleotide variant (5 prime UTR variant +1 more)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GUncertain significance
Select item 1388944	NM_014797.3(ZBTB24):c.2025G>C (p.Gln675His)	MICAL1, ZBTB24 (Q675H)	Single nucleotide variant (5 prime UTR variant +1 more)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GUncertain significance
Select item 3191965	NM_014797.3(ZBTB24):c.2018T>C (p.Leu673Pro)	ZBTB24, MICAL1 (L673P)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1042545	NM_014797.3(ZBTB24):c.1996G>A (p.Asp666Asn)	ZBTB24, MICAL1 (D666N)	Single nucleotide variant (5 prime UTR variant +1 more)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GUncertain significance
Select item 1985487	NM_014797.3(ZBTB24):c.1986A>G (p.Thr662=)	MICAL1, ZBTB24	Single nucleotide variant (5 prime UTR variant +1 more)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2529619	NM_014797.3(ZBTB24):c.1985C>T (p.Thr662Ile)	MICAL1, ZBTB24 (T662I)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1024737	NM_014797.3(ZBTB24):c.1984A>G (p.Thr662Ala)	MICAL1, ZBTB24 (T662A)	Single nucleotide variant (5 prime UTR variant +1 more)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GUncertain significance
Select item 2722290	NM_014797.3(ZBTB24):c.1974C>T (p.Leu658=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 749640	NM_014797.3(ZBTB24):c.1974C>G (p.Leu658=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 572801	NM_014797.3(ZBTB24):c.1969G>A (p.Glu657Lys)	ZBTB24 (E657K)	Single nucleotide variant (missense variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GUncertain significance
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 2146880	NM_014797.3(ZBTB24):c.1956A>G (p.Gln652=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 1135241	NM_014797.3(ZBTB24):c.1953T>C (p.His651=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2080596	NM_014797.3(ZBTB24):c.1949C>A (p.Ala650Asp)	ZBTB24 (A650D)	Single nucleotide variant (missense variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GUncertain significance
Select item 1929304	NM_014797.3(ZBTB24):c.1946A>G (p.His649Arg)	ZBTB24 (H649R)	Single nucleotide variant (missense variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GUncertain significance
Select item 848363	NM_014797.3(ZBTB24):c.1936G>A (p.Glu646Lys)	ZBTB24 (E646K)	Single nucleotide variant (missense variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GUncertain significance
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 1366868	NM_014797.3(ZBTB24):c.1925A>G (p.Lys642Arg)	ZBTB24 (K642R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 2151333	NM_014797.3(ZBTB24):c.1908C>T (p.His636=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2103842	NM_014797.3(ZBTB24):c.1903G>A (p.Val635Met)	ZBTB24 (V635M)	Single nucleotide variant (missense variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GUncertain significance
Select item 1016324	NM_014797.3(ZBTB24):c.1893A>G (p.Gln631=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 1032639	NM_014797.3(ZBTB24):c.1891C>G (p.Gln631Glu)	ZBTB24 (Q631E)	Single nucleotide variant (missense variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GUncertain significance
Select item 972591	NM_014797.3(ZBTB24):c.1889C>T (p.Ser630Leu)	ZBTB24 (S630L)	Single nucleotide variant (missense variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GUncertain significance
Select item 1550101	NM_014797.3(ZBTB24):c.1884G>A (p.Gly628=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 1510376	NM_014797.3(ZBTB24):c.1867A>G (p.Ile623Val)	ZBTB24 (I623V)	Single nucleotide variant (missense variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GUncertain significance
Select item 758337	NM_014797.3(ZBTB24):c.1857C>T (p.Ser619=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 1896960	NM_014797.3(ZBTB24):c.1856G>A (p.Ser619Asn)	ZBTB24 (S619N)	Single nucleotide variant (missense variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GUncertain significance
Select item 3191964	NM_014797.3(ZBTB24):c.1854G>C (p.Gln618His)	ZBTB24 (Q618H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2197304	NM_014797.3(ZBTB24):c.1849A>G (p.Ile617Val)	ZBTB24 (I617V)	Single nucleotide variant (missense variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GUncertain significance
Select item 3333892	NM_014797.3(ZBTB24):c.1841C>T (p.Thr614Ile)	ZBTB24 (T614I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1093952	NM_014797.3(ZBTB24):c.1836G>A (p.Glu612=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2783507	NM_014797.3(ZBTB24):c.1830A>G (p.Gln610=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2715756	NM_014797.3(ZBTB24):c.1812T>C (p.Asn604=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 577255	NM_014797.3(ZBTB24):c.1811A>G (p.Asn604Ser)	ZBTB24 (N604S)	Single nucleotide variant (missense variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GUncertain significance
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 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 1110870	NM_014797.3(ZBTB24):c.1788G>A (p.Thr596=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 1013746	NM_014797.3(ZBTB24):c.1787C>T (p.Thr596Met)	ZBTB24 (T596M)	Single nucleotide variant (missense variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GUncertain significance
Select item 2500112	NM_014797.3(ZBTB24):c.1786A>G (p.Thr596Ala)	ZBTB24 (T596A)	Single nucleotide variant (missense variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GUncertain significance
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 1038366	NM_014797.3(ZBTB24):c.1774C>T (p.Leu592Phe)	ZBTB24 (L592F)	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 1961954	NM_014797.3(ZBTB24):c.1762C>A (p.Gln588Lys)	ZBTB24 (Q588K)	Single nucleotide variant (missense variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GUncertain significance
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 2112170	NM_014797.3(ZBTB24):c.1755T>G (p.Thr585=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 936713	NM_014797.3(ZBTB24):c.1753A>T (p.Thr585Ser)	ZBTB24 (T585S)	Single nucleotide variant (missense variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GUncertain significance
Select item 539534	NM_014797.3(ZBTB24):c.1750A>T (p.Met584Leu)	ZBTB24 (M584L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 844207	NM_014797.3(ZBTB24):c.1748A>G (p.Asn583Ser)	ZBTB24 (N583S)	Single nucleotide variant (missense variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GUncertain significance
Select item 1661313	NM_014797.3(ZBTB24):c.1746A>G (p.Gln582=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GBenign
Select item 764021	NM_014797.3(ZBTB24):c.1734A>G (p.Ala578=)	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 1581704	NM_014797.3(ZBTB24):c.1722C>T (p.Ser574=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 3333890	NM_014797.3(ZBTB24):c.1720A>C (p.Ser574Arg)	ZBTB24 (S574R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 961876	NM_014797.3(ZBTB24):c.1715G>A (p.Gly572Glu)	ZBTB24 (G572E)	Single nucleotide variant (missense variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GUncertain significance
Select item 2728790	NM_014797.3(ZBTB24):c.1707T>C (p.Pro569=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 770552	NM_014797.3(ZBTB24):c.1707T>A (p.Pro569=)	ZBTB24	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 791705	NM_014797.3(ZBTB24):c.1702G>A (p.Gly568Ser)	ZBTB24 (G568S)	Single nucleotide variant (missense variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 472202	NM_014797.3(ZBTB24):c.1701C>T (p.Pro567=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GBenign
Select item 3191962	NM_014797.3(ZBTB24):c.1700C>G (p.Pro567Arg)	ZBTB24 (P567R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 753734	NM_014797.3(ZBTB24):c.1689C>T (p.Ile563=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 539538	NM_014797.3(ZBTB24):c.1688T>C (p.Ile563Thr)	ZBTB24 (I563T)	Single nucleotide variant (missense variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GConflicting classifications of pathogenicity
Select item 729100	NM_014797.3(ZBTB24):c.1686C>T (p.Asn562=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 1481172	NM_014797.3(ZBTB24):c.1685A>C (p.Asn562Thr)	ZBTB24 (N562T)	Single nucleotide variant (missense variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GUncertain significance
Select item 1656232	NM_014797.3(ZBTB24):c.1683T>C (p.His561=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 2191870	NM_014797.3(ZBTB24):c.1681C>T (p.His561Tyr)	ZBTB24 (H561Y)	Single nucleotide variant (missense variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GUncertain significance
Select item 1038159	NM_014797.3(ZBTB24):c.1676C>G (p.Ser559Cys)	ZBTB24 (S559C)	Single nucleotide variant (missense variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GUncertain significance
Select item 539542	NM_014797.3(ZBTB24):c.1672G>A (p.Asp558Asn)	ZBTB24 (D558N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely 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 3363425	NM_014797.3(ZBTB24):c.1670C>A (p.Thr557Asn)	ZBTB24 (T557N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 472201	NM_014797.3(ZBTB24):c.1666G>A (p.Val556Ile)	ZBTB24 (V556I)	Single nucleotide variant (missense variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GUncertain significance
Select item 721110	NM_014797.3(ZBTB24):c.1665C>T (p.Leu555=)	ZBTB24	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GLikely benign
Select item 1717515	NM_014797.3(ZBTB24):c.1642G>C (p.Gly548Arg)	ZBTB24 (G548R)	Single nucleotide variant (missense variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	GUncertain significance

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