4926[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 581641.	GRCh38/hg38 11q13.4(chr11:71164008-72309374)x3 GRCh37: Chr11:71088949-72020418 GRCh38: Chr11:71164008-72309374	ACTE1P, ANAPC15, CLPB, DEFB108B, DEFB131B, DHCR7, DHCR7-DT, FAM86C1P, FOLR1, FOLR2, FOLR3, IL18BP, INPPL1, KRTAP5-10, KRTAP5-11, KRTAP5-7, KRTAP5-8, KRTAP5-9, LAMTOR1, LOC100128494, LOC111718492, LOC112136082, LOC121832798, LOC124500683, LOC126861256, LOC126861257, LOC126861258, LOC129390303, LOC129390304, LOC129390305, LOC129390306, LOC130006305, LOC130006306, LOC130006307, LOC130006308, LOC130006309, LOC130006310, LOC130006311, LOC130006312, LOC130006313, LOC130006314, LOC130006315, LOC130006316, LOC130006317, LOC130006318, LOC130006319, LOC130006320, LOC130006321, LOC130006322, LOC130006323, LOC130006324, LOC130006325, LOC130006326, LOC130006327, LOC130006328, LOC130006329, LRRC51, LRTOMT, MIR3165, MIR6754, NADSYN1, NUMA1, PHOX2A, RNF121, SHANK2, TOMT, XNDC1N, XNDC1N-ZNF705EP-ALG1L9P, ZNF705E		See cases	Uncertain significance (Aug 12, 2011)	criteria provided, single submitter
Select item 589162.	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1 GRCh37: Chr11:71639842-76751808 GRCh38: Chr11:71928796-77064521	LOC130006424, LOC130006425, LOC130006426, LOC130006427, LOC130006428, LOC130006429, LOC130006430, LOC130006431, LOC130006432, LOC130006433, LOC130006434, LOC130006435, LOC130006436, LOC130006437, LOC130006438, LOC130006439, LOC130006440, LOC130006441, LOC130006442, LOC130006443, LOC130006444, LOC130006445, LOC130006446, LOC130006447, LOC130006448, LOC130006449, LOC130006450, LOC130006451, LOC130006452, LOC130006453, LOC130006454, LOC130006455, LOC130006456, LOC130006457, LOC130006458, LOC130006459, LOC130006460, LOC130006461, LOC130006462, LOC130006463, LOC130006464, LOC130006465, LOC130006466, LOC130006467, LOC130006468, LOC130006469, LOC130006470, LOC130006471, LOC130006472, LOC130006473, LOC130006474, LOC130006475, LOC130006476, LOC130006477, LOC130006478, LOC130006479, LRRC32, LRRC51, LRTOMT, MAP6, MIR139, MIR3165, MIR326, MIR4692, MIR4696, MIR548AL, MOGAT2, MRPL48, NEU3, NUMA1, OR2AT4, P2RY2, P2RY6, P4HA3, P4HA3-AS1, PAAF1, PDE2A, PDE2A-AS1, PGM2L1, PHOX2A, PLEKHB1, POLD3, PPME1, RAB6A, RELT, RNF121, RNF169, RPS3, SERPINH1, SLCO2B1, SNORD15A, SNORD15B, SPCS2, STARD10, THAP12, TOMT, TPBGL, TPBGL-AS1, TRP-AGG2-4, TRP-TGG2-1, TSKU, TSKU-AS1, UCP2, UCP3, UVRAG, UVRAG-DT, WNT11, XRRA1, ACER3, ANAPC15, ARAP1, ARAP1-AS2, ARHGEF17, ARHGEF17-AS1, ARRB1, ATG16L2, B3GNT6, C2CD3, CHRDL2, CLPB, COA4, DGAT2, DGAT2-DT, DNAJB13, EMSY, EMSY-DT, FAM168A, FCHSD2, FOLR1, FOLR2, FOLR3, GDPD5, GVQW3, IL18BP, INPPL1, KCNE3, KLHL35, LAMTOR1, LINC01537, LINC02757, LIPT2, LIPT2-AS1, LOC100128494, LOC105369391, LOC108281147, LOC110121365, LOC110121439, LOC111718492, LOC111822946, LOC112136082, LOC112136083, LOC112136088, LOC112136089, LOC112136090, LOC116216151, LOC116216152, LOC116216153, LOC116216154, LOC116216155, LOC116216156, LOC116216157, LOC121392927, LOC121392928, LOC121392929, LOC121392930, LOC121392931, LOC121832799, LOC121832800, LOC124500684, LOC124500685, LOC124500686, LOC124500687, LOC124500688, LOC124500689, LOC124500690, LOC124500691, LOC124500692, LOC124500693, LOC126861257, LOC126861258, LOC126861259, LOC126861260, LOC126861261, LOC126861262, LOC126861263, LOC126861264, LOC126861265, LOC126861266, LOC126861267, LOC126861268, LOC126861269, LOC126861270, LOC126861271, LOC129390305, LOC129390306, LOC129390307, LOC129390308, LOC129390309, LOC129390310, LOC129390311, LOC130006317, LOC130006318, LOC130006319, LOC130006320, LOC130006321, LOC130006322, LOC130006323, LOC130006324, LOC130006325, LOC130006326, LOC130006327, LOC130006328, LOC130006329, LOC130006330, LOC130006331, LOC130006332, LOC130006333, LOC130006334, LOC130006335, LOC130006336, LOC130006337, LOC130006338, LOC130006339, LOC130006340, LOC130006341, LOC130006342, LOC130006343, LOC130006344, LOC130006345, LOC130006346, LOC130006347, LOC130006348, LOC130006349, LOC130006350, LOC130006351, LOC130006352, LOC130006353, LOC130006354, LOC130006355, LOC130006356, LOC130006357, LOC130006358, LOC130006359, LOC130006360, LOC130006361, LOC130006362, LOC130006363, LOC130006364, LOC130006365, LOC130006366, LOC130006367, LOC130006368, LOC130006369, LOC130006370, LOC130006371, LOC130006372, LOC130006373, LOC130006374, LOC130006375, LOC130006376, LOC130006377, LOC130006378, LOC130006379, LOC130006380, LOC130006381, LOC130006382, LOC130006383, LOC130006384, LOC130006385, LOC130006386, LOC130006387, LOC130006388, LOC130006389, LOC130006390, LOC130006391, LOC130006392, LOC130006393, LOC130006394, LOC130006395, LOC130006396, LOC130006397, LOC130006398, LOC130006399, LOC130006400, LOC130006401, LOC130006402, LOC130006403, LOC130006404, LOC130006405, LOC130006406, LOC130006407, LOC130006408, LOC130006409, LOC130006410, LOC130006411, LOC130006412, LOC130006413, LOC130006414, LOC130006415, LOC130006416, LOC130006417, LOC130006418, LOC130006419, LOC130006420, LOC130006421, LOC130006422, LOC130006423		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 589173.	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1 GRCh37: Chr11:71680927-77943941 GRCh38: Chr11:71969881-78232895	AAMDC, ACER3, ALG8, ANAPC15, AQP11, ARAP1, ARAP1-AS2, ARHGEF17, ARHGEF17-AS1, ARRB1, ATG16L2, B3GNT6, C2CD3, CAPN5, CHRDL2, CLNS1A, CLPB, COA4, DGAT2, DGAT2-DT, DNAJB13, EMSY, EMSY-DT, FAM168A, FCHSD2, FOLR1, FOLR2, FOLR3, GAB2, GDPD4, GDPD5, GVQW3, IL18BP, INPPL1, INTS4, KCNE3, KCTD14, KCTD21, KCTD21-AS1, KLHL35, LAMTOR1, LINC01537, LINC02757, LINC03030, LIPT2, LIPT2-AS1, LOC100128494, LOC105369391, LOC108281147, LOC110121365, LOC110121439, LOC111718492, LOC111822946, LOC112136082, LOC112136083, LOC112136088, LOC112136089, LOC112136090, LOC116216151, LOC116216152, LOC116216153, LOC116216154, LOC116216155, LOC116216156, LOC116216157, LOC116216158, LOC121392927, LOC121392928, LOC121392929, LOC121392930, LOC121392931, LOC121832799, LOC121832800, LOC121832801, LOC124500684, LOC124500685, LOC124500686, LOC124500687, LOC124500688, LOC124500689, LOC124500690, LOC124500691, LOC124500692, LOC124500693, LOC124500694, LOC124500695, LOC124500696, LOC124500697, LOC126861257, LOC126861258, LOC126861259, LOC126861260, LOC126861261, LOC126861262, LOC126861263, LOC126861264, LOC126861265, LOC126861266, LOC126861267, LOC126861268, LOC126861269, LOC126861270, LOC126861271, LOC129390305, LOC129390306, LOC129390307, LOC129390308, LOC129390309, LOC129390310, LOC129390311, LOC129390312, LOC129390313, LOC129390314, LOC129390315, LOC129390316, LOC130006318, LOC130006319, LOC130006320, LOC130006321, LOC130006322, LOC130006323, LOC130006324, LOC130006325, LOC130006326, LOC130006327, LOC130006328, LOC130006329, LOC130006330, LOC130006331, LOC130006332, LOC130006333, LOC130006334, LOC130006335, LOC130006336, LOC130006337, LOC130006338, LOC130006339, LOC130006340, LOC130006341, LOC130006342, LOC130006343, LOC130006344, LOC130006345, LOC130006346, LOC130006347, LOC130006348, LOC130006349, LOC130006350, LOC130006351, LOC130006352, LOC130006353, LOC130006354, LOC130006355, LOC130006356, LOC130006357, LOC130006358, LOC130006359, LOC130006360, LOC130006361, LOC130006362, LOC130006363, LOC130006364, LOC130006365, LOC130006366, LOC130006367, LOC130006368, LOC130006369, LOC130006370, LOC130006371, LOC130006372, LOC130006373, LOC130006374, LOC130006375, LOC130006376, LOC130006377, LOC130006378, LOC130006379, LOC130006380, LOC130006381, LOC130006382, LOC130006383, LOC130006384, LOC130006385, LOC130006386, LOC130006387, LOC130006388, LOC130006389, LOC130006390, LOC130006391, LOC130006392, LOC130006393, LOC130006394, LOC130006395, LOC130006396, LOC130006397, LOC130006398, LOC130006399, LOC130006400, LOC130006401, LOC130006402, LOC130006403, LOC130006404, LOC130006405, LOC130006406, LOC130006407, LOC130006408, LOC130006409, LOC130006410, LOC130006411, LOC130006412, LOC130006413, LOC130006414, LOC130006415, LOC130006416, LOC130006417, LOC130006418, LOC130006419, LOC130006420, LOC130006421, LOC130006422, LOC130006423, LOC130006424, LOC130006425, LOC130006426, LOC130006427, LOC130006428, LOC130006429, LOC130006430, LOC130006431, LOC130006432, LOC130006433, LOC130006434, LOC130006435, LOC130006436, LOC130006437, LOC130006438, LOC130006439, LOC130006440, LOC130006441, LOC130006442, LOC130006443, LOC130006444, LOC130006445, LOC130006446, LOC130006447, LOC130006448, LOC130006449, LOC130006450, LOC130006451, LOC130006452, LOC130006453, LOC130006454, LOC130006455, LOC130006456, LOC130006457, LOC130006458, LOC130006459, LOC130006460, LOC130006461, LOC130006462, LOC130006463, LOC130006464, LOC130006465, LOC130006466, LOC130006467, LOC130006468, LOC130006469, LOC130006470, LOC130006471, LOC130006472, LOC130006473, LOC130006474, LOC130006475, LOC130006476, LOC130006477, LOC130006478, LOC130006479, LOC130006480, LOC130006481, LOC130006482, LOC130006483, LOC130006484, LOC130006485, LOC130006486, LOC130006487, LOC130006488, LOC130006489, LOC130006490, LOC130006491, LOC130006492, LOC130006493, LOC130006494, LOC130006495, LOC130006496, LOC130006497, LOC130006498, LRRC32, LRRC51, LRTOMT, MAP6, MIR139, MIR3165, MIR326, MIR4692, MIR4696, MIR548AL, MOGAT2, MRPL48, MYO7A, NDUFC2, NDUFC2-KCTD14, NEU3, NUMA1, OMP, OR2AT4, P2RY2, P2RY6, P4HA3, P4HA3-AS1, PAAF1, PAK1, PDE2A, PDE2A-AS1, PGM2L1, PHOX2A, PLEKHB1, POLD3, PPME1, RAB6A, RELT, RNF121, RNF169, RPS3, RSF1, RSF1-IT1, SERPINH1, SLCO2B1, SNORD15A, SNORD15B, SPCS2, STARD10, THAP12, THRSP, TOMT, TPBGL, TPBGL-AS1, TRP-AGG2-4, TRP-TGG2-1, TSKU, TSKU-AS1, UCP2, UCP3, USP35, UVRAG, UVRAG-DT, WNT11, XRRA1		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 24567274.	NM_006185.4(NUMA1):c.6256C>T (p.Arg2086Cys) GRCh37: Chr11:71715013 GRCh38: Chr11:72003967	IL18BP, NUMA1	R2072C, R2086C	Inborn genetic diseases	Uncertain significance (Mar 14, 2023)	criteria provided, single submitter
Select item 25487945.	NM_006185.4(NUMA1):c.6242G>A (p.Arg2081His) GRCh37: Chr11:71715027 GRCh38: Chr11:72003981	IL18BP, NUMA1	R2067H, R2081H	Inborn genetic diseases	Uncertain significance (May 18, 2023)	criteria provided, single submitter
Select item 23135976.	NM_006185.4(NUMA1):c.6194G>A (p.Arg2065Gln) GRCh37: Chr11:71715075 GRCh38: Chr11:72004029	IL18BP, NUMA1	R2065Q, R2051Q	Inborn genetic diseases	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 24599647.	NM_006185.4(NUMA1):c.6130C>T (p.Arg2044Trp) GRCh37: Chr11:71715139 GRCh38: Chr11:72004093	IL18BP, NUMA1	R2044W, R2030W	Inborn genetic diseases	Uncertain significance (Jan 10, 2023)	criteria provided, single submitter
Select item 23903318.	NM_006185.4(NUMA1):c.5999C>T (p.Thr2000Ile) GRCh37: Chr11:71715693 GRCh38: Chr11:72004647	NUMA1, IL18BP	T1986I, T2000I	Inborn genetic diseases	Uncertain significance (Oct 6, 2021)	criteria provided, single submitter
Select item 22868909.	NM_006185.4(NUMA1):c.5966G>A (p.Arg1989Gln) GRCh37: Chr11:71715726 GRCh38: Chr11:72004680	IL18BP, NUMA1	R1975Q, R1989Q	Inborn genetic diseases	Uncertain significance (May 1, 2022)	criteria provided, single submitter
Select item 78421610.	NM_006185.4(NUMA1):c.5959C>T (p.Arg1987Cys) GRCh37: Chr11:71715733 GRCh38: Chr11:72004687	IL18BP, NUMA1	R1987C, R1973C	not provided	Likely benign (Aug 28, 2018)	criteria provided, single submitter
Select item 237438611.	NM_006185.4(NUMA1):c.5931G>C (p.Glu1977Asp) GRCh37: Chr11:71715761 GRCh38: Chr11:72004715	IL18BP, NUMA1	E1977D, E1963D	Inborn genetic diseases	Uncertain significance (Jul 6, 2021)	criteria provided, single submitter
Select item 237717812.	NM_006185.4(NUMA1):c.5896C>T (p.Arg1966Cys) GRCh37: Chr11:71715796 GRCh38: Chr11:72004750	IL18BP, NUMA1	R1952C, R1966C	Inborn genetic diseases	Uncertain significance (Jun 30, 2022)	criteria provided, single submitter
Select item 228156213.	NM_006185.4(NUMA1):c.5813A>G (p.Tyr1938Cys) GRCh37: Chr11:71716295 GRCh38: Chr11:72005249	IL18BP, NUMA1	Y1924C, Y1938C	Inborn genetic diseases	Uncertain significance (Apr 7, 2022)	criteria provided, single submitter
Select item 253040914.	NM_006185.4(NUMA1):c.5755C>T (p.Arg1919Cys) GRCh37: Chr11:71716353 GRCh38: Chr11:72005307	IL18BP, NUMA1	R1905C, R1919C	Inborn genetic diseases	Uncertain significance (Mar 28, 2023)	criteria provided, single submitter
Select item 233820515.	NM_006185.4(NUMA1):c.5728G>A (p.Glu1910Lys) GRCh37: Chr11:71716380 GRCh38: Chr11:72005334	NUMA1, IL18BP	E1910K, E1896K	Inborn genetic diseases	Uncertain significance (Dec 21, 2022)	criteria provided, single submitter
Select item 74514716.	NM_006185.4(NUMA1):c.5682G>A (p.Gly1894=) GRCh37: Chr11:71717091 GRCh38: Chr11:72006045	IL18BP, NUMA1		not provided	Likely benign (May 22, 2018)	criteria provided, single submitter
Select item 220919117.	NM_006185.4(NUMA1):c.5664G>C (p.Gln1888His) GRCh37: Chr11:71717109 GRCh38: Chr11:72006063	IL18BP, NUMA1	Q1874H, Q1888H	Inborn genetic diseases	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 234056518.	NM_006185.4(NUMA1):c.5653C>T (p.Arg1885Cys) GRCh37: Chr11:71717120 GRCh38: Chr11:72006074	NUMA1, IL18BP	R1871C, R1885C	Inborn genetic diseases	Uncertain significance (Nov 10, 2022)	criteria provided, single submitter
Select item 223880519.	NM_006185.4(NUMA1):c.5590G>A (p.Asp1864Asn) GRCh37: Chr11:71717183 GRCh38: Chr11:72006137	IL18BP, NUMA1	D1864N, D1850N	Inborn genetic diseases	Uncertain significance (Aug 11, 2021)	criteria provided, single submitter
Select item 253122120.	NM_006185.4(NUMA1):c.5510G>C (p.Ser1837Thr) GRCh37: Chr11:71717263 GRCh38: Chr11:72006217	IL18BP, NUMA1	S1823T, S1837T	Inborn genetic diseases	Uncertain significance (Mar 29, 2023)	criteria provided, single submitter
Select item 77421021.	NM_006185.4(NUMA1):c.5506T>C (p.Tyr1836His) GRCh37: Chr11:71717267 GRCh38: Chr11:72006221	IL18BP, NUMA1	Y1836H, Y1822H	not provided	Likely benign (Apr 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 78536522.	NM_006185.4(NUMA1):c.5473G>A (p.Val1825Met) GRCh37: Chr11:71717300 GRCh38: Chr11:72006254	IL18BP, NUMA1	V1811M, V1825M	not provided	Benign (Jul 23, 2018)	criteria provided, single submitter
Select item 235636123.	NM_006185.4(NUMA1):c.5472T>A (p.Asp1824Glu) GRCh37: Chr11:71717301 GRCh38: Chr11:72006255	NUMA1, IL18BP	D1824E, D1810E	Inborn genetic diseases	Uncertain significance (Oct 12, 2021)	criteria provided, single submitter
Select item 259796724.	NM_006185.4(NUMA1):c.5429G>A (p.Arg1810His) GRCh37: Chr11:71718269 GRCh38: Chr11:72007223	IL18BP, NUMA1	R1796H, R1810H	Inborn genetic diseases	Uncertain significance (Jun 22, 2023)	criteria provided, single submitter
Select item 76404225.	NM_006185.4(NUMA1):c.5424T>C (p.Arg1808=) GRCh37: Chr11:71718274 GRCh38: Chr11:72007228	IL18BP, NUMA1		not provided	Likely benign (Aug 24, 2018)	criteria provided, single submitter
Select item 232337726.	NM_006185.4(NUMA1):c.5423G>A (p.Arg1808His) GRCh37: Chr11:71718275 GRCh38: Chr11:72007229	IL18BP, NUMA1	R1794H, R1808H	Inborn genetic diseases	Uncertain significance (Nov 7, 2022)	criteria provided, single submitter
Select item 221571327.	NM_006185.4(NUMA1):c.5413C>T (p.Arg1805Cys) GRCh37: Chr11:71718285 GRCh38: Chr11:72007239	IL18BP, NUMA1	R1791C, R1805C	Inborn genetic diseases	Uncertain significance (Dec 3, 2021)	criteria provided, single submitter
Select item 253818128.	NM_006185.4(NUMA1):c.5404C>G (p.Arg1802Gly) GRCh37: Chr11:71718294 GRCh38: Chr11:72007248	NUMA1, IL18BP	R1802G, R1788G	Inborn genetic diseases	Uncertain significance (Apr 18, 2023)	criteria provided, single submitter
Select item 228141329.	NM_006185.4(NUMA1):c.5401G>A (p.Gly1801Ser) GRCh37: Chr11:71718297 GRCh38: Chr11:72007251	IL18BP, NUMA1	G1787S, G1801S	Inborn genetic diseases	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 77664030.	NM_006185.4(NUMA1):c.5400G>A (p.Ser1800=) GRCh37: Chr11:71718298 GRCh38: Chr11:72007252	IL18BP, NUMA1		not provided	Benign (Mar 29, 2018)	criteria provided, single submitter
Select item 78014531.	NM_006185.4(NUMA1):c.5383G>A (p.Asp1795Asn) GRCh37: Chr11:71718315 GRCh38: Chr11:72007269	IL18BP, NUMA1	D1795N, D1781N	not provided	Benign (Aug 17, 2018)	criteria provided, single submitter
Select item 259573632.	NM_006185.4(NUMA1):c.5341C>T (p.Arg1781Trp) GRCh37: Chr11:71718357 GRCh38: Chr11:72007311	IL18BP, NUMA1	R1767W, R1781W	Inborn genetic diseases	Uncertain significance (Aug 4, 2023)	criteria provided, single submitter
Select item 252729733.	NM_006185.4(NUMA1):c.5291C>T (p.Pro1764Leu) GRCh37: Chr11:71718407 GRCh38: Chr11:72007361	IL18BP, NUMA1	P1750L, P1764L	Inborn genetic diseases	Uncertain significance (Mar 20, 2023)	criteria provided, single submitter
Select item 79064634.	NM_006185.4(NUMA1):c.5285G>A (p.Arg1762His) GRCh37: Chr11:71718413 GRCh38: Chr11:72007367	IL18BP, NUMA1	R1748H, R1762H	Acute promyelocytic leukemia, not provided	Benign/Likely benign (Apr 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 222225935.	NM_006185.4(NUMA1):c.5227C>T (p.Arg1743Cys) GRCh37: Chr11:71718471 GRCh38: Chr11:72007425	NUMA1, IL18BP	R1743C, R1729C	Inborn genetic diseases	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 226530636.	NM_006185.4(NUMA1):c.5180T>C (p.Leu1727Pro) GRCh37: Chr11:71719770 GRCh38: Chr11:72008724	NUMA1	L1713P, L1727P	Inborn genetic diseases	Uncertain significance (Dec 6, 2021)	criteria provided, single submitter
Select item 225503637.	NM_006185.4(NUMA1):c.5165T>C (p.Ile1722Thr) GRCh37: Chr11:71719785 GRCh38: Chr11:72008739	NUMA1	I1722T, I1708T	Inborn genetic diseases	Uncertain significance (Oct 12, 2021)	criteria provided, single submitter
Select item 246126938.	NM_006185.4(NUMA1):c.5074C>G (p.Gln1692Glu) GRCh37: Chr11:71719876 GRCh38: Chr11:72008830	NUMA1	Q1692E, Q1678E	Inborn genetic diseases	Uncertain significance (Feb 27, 2023)	criteria provided, single submitter
Select item 228926939.	NM_006185.4(NUMA1):c.5035C>G (p.Gln1679Glu) GRCh37: Chr11:71720036 GRCh38: Chr11:72008990	NUMA1	Q1665E, Q1679E	Inborn genetic diseases	Uncertain significance (May 11, 2022)	criteria provided, single submitter
Select item 227715040.	NM_006185.4(NUMA1):c.4762C>T (p.Arg1588Cys) GRCh37: Chr11:71720391 GRCh38: Chr11:72009345	NUMA1	R1574C, R1588C	Inborn genetic diseases	Uncertain significance (Dec 13, 2022)	criteria provided, single submitter
Select item 261729441.	NM_006185.4(NUMA1):c.4711A>C (p.Lys1571Gln) GRCh37: Chr11:71721840 GRCh38: Chr11:72010794	NUMA1	K1557Q, K1571Q	Inborn genetic diseases	Uncertain significance (Aug 8, 2023)	criteria provided, single submitter
Select item 247275542.	NM_006185.4(NUMA1):c.4540G>A (p.Gly1514Ser) GRCh37: Chr11:71724009 GRCh38: Chr11:72012963	NUMA1	G1514S	Inborn genetic diseases	Uncertain significance (Feb 15, 2023)	criteria provided, single submitter
Select item 229164643.	NM_006185.4(NUMA1):c.4508G>A (p.Arg1503Gln) GRCh37: Chr11:71724041 GRCh38: Chr11:72012995	NUMA1	R1503Q	Inborn genetic diseases	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 78962844.	NM_006185.4(NUMA1):c.4329G>A (p.Ala1443=) GRCh37: Chr11:71724220 GRCh38: Chr11:72013174	NUMA1		not provided	Benign (Jan 8, 2018)	criteria provided, single submitter
Select item 255168545.	NM_006185.4(NUMA1):c.4126G>A (p.Ala1376Thr) GRCh37: Chr11:71724423 GRCh38: Chr11:72013377	NUMA1	A1376T	Inborn genetic diseases	Uncertain significance (May 24, 2023)	criteria provided, single submitter
Select item 230789346.	NM_006185.4(NUMA1):c.4073G>A (p.Ser1358Asn) GRCh37: Chr11:71724476 GRCh38: Chr11:72013430	NUMA1	S1358N	Inborn genetic diseases	Uncertain significance (Aug 17, 2022)	criteria provided, single submitter
Select item 247967947.	NM_006185.4(NUMA1):c.4042C>T (p.Leu1348Phe) GRCh37: Chr11:71724507 GRCh38: Chr11:72013461	NUMA1	L1348F	Inborn genetic diseases	Uncertain significance (Jan 26, 2023)	criteria provided, single submitter
Select item 246949048.	NM_006185.4(NUMA1):c.3955G>A (p.Ala1319Thr) GRCh37: Chr11:71724594 GRCh38: Chr11:72013548	NUMA1	A1319T	Inborn genetic diseases	Uncertain significance (Jan 31, 2023)	criteria provided, single submitter
Select item 248276349.	NM_006185.4(NUMA1):c.3935G>A (p.Arg1312Gln) GRCh37: Chr11:71724614 GRCh38: Chr11:72013568	NUMA1	R1312Q	Inborn genetic diseases	Uncertain significance (Feb 10, 2023)	criteria provided, single submitter
Select item 240710350.	NM_006185.4(NUMA1):c.3893G>A (p.Arg1298Gln) GRCh37: Chr11:71724656 GRCh38: Chr11:72013610	NUMA1	R1298Q	Inborn genetic diseases	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 227306851.	NM_006185.4(NUMA1):c.3872G>A (p.Arg1291Gln) GRCh37: Chr11:71724677 GRCh38: Chr11:72013631	NUMA1	R1291Q	Inborn genetic diseases	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 227662352.	NM_006185.4(NUMA1):c.3845G>A (p.Arg1282Lys) GRCh37: Chr11:71724704 GRCh38: Chr11:72013658	NUMA1	R1282K	Inborn genetic diseases	Uncertain significance (Feb 10, 2022)	criteria provided, single submitter
Select item 77920953.	NM_006185.4(NUMA1):c.3816G>A (p.Leu1272=) GRCh37: Chr11:71724733 GRCh38: Chr11:72013687	NUMA1		not provided	Benign (May 28, 2018)	criteria provided, single submitter
Select item 72613554.	NM_006185.4(NUMA1):c.3771C>T (p.Ala1257=) GRCh37: Chr11:71724778 GRCh38: Chr11:72013732	NUMA1		not provided	Likely benign (Mar 29, 2018)	criteria provided, single submitter
Select item 180178355.	NM_006185.4(NUMA1):c.3716G>C (p.Arg1239Pro) GRCh37: Chr11:71724833 GRCh38: Chr11:72013787	NUMA1	R1239P	Myoepithelial tumor	Pathogenic (Nov 1, 2022)	no assertion criteria provided
Select item 235466656.	NM_006185.4(NUMA1):c.3604C>A (p.His1202Asn) GRCh37: Chr11:71724945 GRCh38: Chr11:72013899	NUMA1	H1202N	Inborn genetic diseases	Uncertain significance (Jan 4, 2022)	criteria provided, single submitter
Select item 255444657.	NM_006185.4(NUMA1):c.3586C>T (p.Arg1196Cys) GRCh37: Chr11:71724963 GRCh38: Chr11:72013917	NUMA1	R1196C	Inborn genetic diseases	Uncertain significance (May 31, 2023)	criteria provided, single submitter
Select item 260407658.	NM_006185.4(NUMA1):c.3469C>T (p.Arg1157Trp) GRCh37: Chr11:71725080 GRCh38: Chr11:72014034	NUMA1	R1157W	Inborn genetic diseases	Uncertain significance (Jun 16, 2023)	criteria provided, single submitter
Select item 233641659.	NM_006185.4(NUMA1):c.3455C>T (p.Ala1152Val) GRCh37: Chr11:71725094 GRCh38: Chr11:72014048	NUMA1	A1152V	Inborn genetic diseases	Uncertain significance (Dec 19, 2022)	criteria provided, single submitter
Select item 264211060.	NM_006185.4(NUMA1):c.3405A>C (p.Gln1135His) GRCh37: Chr11:71725144 GRCh38: Chr11:72014098	NUMA1	Q1135H	not provided	Benign (Apr 1, 2023)	criteria provided, single submitter
Select item 259202061.	NM_006185.4(NUMA1):c.3376C>T (p.Arg1126Trp) GRCh37: Chr11:71725173 GRCh38: Chr11:72014127	NUMA1	R1126W	Inborn genetic diseases	Uncertain significance (Jun 29, 2023)	criteria provided, single submitter
Select item 264211162.	NM_006185.4(NUMA1):c.3313T>C (p.Ser1105Pro) GRCh37: Chr11:71725236 GRCh38: Chr11:72014190	NUMA1	S1105P	not provided	Benign (Aug 1, 2022)	criteria provided, single submitter
Select item 228663363.	NM_006185.4(NUMA1):c.3304G>A (p.Ala1102Thr) GRCh37: Chr11:71725245 GRCh38: Chr11:72014199	NUMA1	A1102T	Inborn genetic diseases	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 221051264.	NM_006185.4(NUMA1):c.3170C>T (p.Thr1057Met) GRCh37: Chr11:71725379 GRCh38: Chr11:72014333	NUMA1, LOC100128494	T1057M	Inborn genetic diseases	Likely benign (Oct 29, 2021)	criteria provided, single submitter
Select item 71551265.	NM_006185.4(NUMA1):c.3152C>T (p.Ala1051Val) GRCh37: Chr11:71725397 GRCh38: Chr11:72014351	LOC100128494, NUMA1	A1051V	not provided	Benign (Dec 31, 2019)	criteria provided, single submitter
Select item 238756066.	NM_006185.4(NUMA1):c.3117C>A (p.Asn1039Lys) GRCh37: Chr11:71725432 GRCh38: Chr11:72014386	NUMA1, LOC100128494	N1039K	Inborn genetic diseases	Uncertain significance (Aug 12, 2021)	criteria provided, single submitter
Select item 264211267.	NM_006185.4(NUMA1):c.3104A>G (p.Gln1035Arg) GRCh37: Chr11:71725445 GRCh38: Chr11:72014399	LOC100128494, NUMA1	Q1035R	not provided	Uncertain significance (May 1, 2022)	criteria provided, single submitter
Select item 239946968.	NM_006185.4(NUMA1):c.3097C>T (p.Arg1033Trp) GRCh37: Chr11:71725452 GRCh38: Chr11:72014406	LOC100128494, NUMA1	R1033W	Inborn genetic diseases	Uncertain significance (Jul 15, 2021)	criteria provided, single submitter
Select item 247043569.	NM_006185.4(NUMA1):c.2966T>C (p.Met989Thr) GRCh37: Chr11:71725583 GRCh38: Chr11:72014537	LOC100128494, NUMA1	M989T	Inborn genetic diseases	Uncertain significance (Jan 26, 2023)	criteria provided, single submitter
Select item 229219170.	NM_006185.4(NUMA1):c.2948G>A (p.Arg983Gln) GRCh37: Chr11:71725601 GRCh38: Chr11:72014555	NUMA1, LOC100128494	R983Q	Inborn genetic diseases	Uncertain significance (Jan 10, 2022)	criteria provided, single submitter
Select item 79064771.	NM_006185.4(NUMA1):c.2937T>C (p.Asn979=) GRCh37: Chr11:71725612 GRCh38: Chr11:72014566	LOC100128494, NUMA1		Acute promyelocytic leukemia, not provided	Benign/Likely benign (Apr 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 77804372.	NM_006185.4(NUMA1):c.2915G>A (p.Arg972Gln) GRCh37: Chr11:71725634 GRCh38: Chr11:72014588	LOC100128494, NUMA1	R972Q	not provided	Benign (Mar 28, 2018)	criteria provided, single submitter
Select item 255264173.	NM_006185.4(NUMA1):c.2903A>G (p.Gln968Arg) GRCh37: Chr11:71725646 GRCh38: Chr11:72014600	LOC100128494, NUMA1	Q968R	Inborn genetic diseases	Uncertain significance (May 30, 2023)	criteria provided, single submitter
Select item 248371774.	NM_006185.4(NUMA1):c.2791G>C (p.Glu931Gln) GRCh37: Chr11:71725758 GRCh38: Chr11:72014712	LOC100128494, NUMA1	E931Q	Inborn genetic diseases	Uncertain significance (Feb 14, 2023)	criteria provided, single submitter
Select item 264211375.	NM_006185.4(NUMA1):c.2752C>T (p.Arg918Cys) GRCh37: Chr11:71725797 GRCh38: Chr11:72014751	LOC100128494, NUMA1	R918C	not provided	Likely benign (May 1, 2023)	criteria provided, single submitter
Select item 253623976.	NM_006185.4(NUMA1):c.2606G>A (p.Arg869Gln) GRCh37: Chr11:71725943 GRCh38: Chr11:72014897	LOC100128494, NUMA1	R869Q	Inborn genetic diseases	Uncertain significance (Apr 5, 2023)	criteria provided, single submitter
Select item 233771777.	NM_006185.4(NUMA1):c.2449T>C (p.Tyr817His) GRCh37: Chr11:71726100 GRCh38: Chr11:72015054	NUMA1, LOC100128494	Y817H	Inborn genetic diseases	Uncertain significance (Dec 20, 2022)	criteria provided, single submitter
Select item 231749878.	NM_006185.4(NUMA1):c.2435C>G (p.Ala812Gly) GRCh37: Chr11:71726114 GRCh38: Chr11:72015068	LOC100128494, NUMA1	A812G	Inborn genetic diseases	Uncertain significance (Oct 6, 2022)	criteria provided, single submitter
Select item 264211479.	NM_006185.4(NUMA1):c.2427A>T (p.Glu809Asp) GRCh37: Chr11:71726122 GRCh38: Chr11:72015076	LOC100128494, NUMA1	E809D	not provided	Benign (Apr 1, 2023)	criteria provided, single submitter
Select item 237070980.	NM_006185.4(NUMA1):c.2402G>A (p.Ser801Asn) GRCh37: Chr11:71726147 GRCh38: Chr11:72015101	LOC100128494, NUMA1	S801N	Inborn genetic diseases	Uncertain significance (Aug 17, 2022)	criteria provided, single submitter
Select item 227191881.	NM_006185.4(NUMA1):c.2354T>G (p.Leu785Arg) GRCh37: Chr11:71726195 GRCh38: Chr11:72015149	NUMA1, LOC100128494	L785R	Inborn genetic diseases	Uncertain significance (Jan 18, 2022)	criteria provided, single submitter
Select item 247218182.	NM_006185.4(NUMA1):c.2343G>T (p.Glu781Asp) GRCh37: Chr11:71726206 GRCh38: Chr11:72015160	LOC100128494, NUMA1	E781D	Inborn genetic diseases	Uncertain significance (Mar 1, 2023)	criteria provided, single submitter
Select item 254689983.	NM_006185.4(NUMA1):c.2306C>T (p.Ala769Val) GRCh37: Chr11:71726243 GRCh38: Chr11:72015197	LOC100128494, NUMA1	A769V	Inborn genetic diseases	Uncertain significance (May 17, 2023)	criteria provided, single submitter
Select item 72142784.	NM_006185.4(NUMA1):c.2178A>G (p.Ala726=) GRCh37: Chr11:71726371 GRCh38: Chr11:72015325	LOC100128494, NUMA1		not provided	Likely benign (Feb 13, 2018)	criteria provided, single submitter
Select item 234412985.	NM_006185.4(NUMA1):c.2168G>A (p.Arg723His) GRCh37: Chr11:71726381 GRCh38: Chr11:72015335	LOC100128494, NUMA1	R723H	Inborn genetic diseases	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 223200086.	NM_006185.4(NUMA1):c.2029G>C (p.Glu677Gln) GRCh37: Chr11:71726520 GRCh38: Chr11:72015474	LOC100128494, NUMA1	E677Q	Inborn genetic diseases	Uncertain significance (Sep 21, 2021)	criteria provided, single submitter
Select item 240997987.	NM_006185.4(NUMA1):c.1937C>G (p.Ala646Gly) GRCh37: Chr11:71726612 GRCh38: Chr11:72015566	LOC100128494, NUMA1	A646G	Inborn genetic diseases	Uncertain significance (Nov 8, 2022)	criteria provided, single submitter
Select item 248263588.	NM_006185.4(NUMA1):c.1930G>A (p.Glu644Lys) GRCh37: Chr11:71726619 GRCh38: Chr11:72015573	LOC100128494, NUMA1	E644K	Inborn genetic diseases	Uncertain significance (Feb 9, 2023)	criteria provided, single submitter
Select item 236357689.	NM_006185.4(NUMA1):c.1927C>T (p.Arg643Trp) GRCh37: Chr11:71726622 GRCh38: Chr11:72015576	LOC100128494, NUMA1	R643W	Inborn genetic diseases	Uncertain significance (Aug 12, 2021)	criteria provided, single submitter
Select item 235978190.	NM_006185.4(NUMA1):c.1894G>A (p.Asp632Asn) GRCh37: Chr11:71726655 GRCh38: Chr11:72015609	NUMA1, LOC100128494	D632N	Inborn genetic diseases	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 251125891.	NM_006185.4(NUMA1):c.1891C>T (p.Arg631Trp) GRCh37: Chr11:71726658 GRCh38: Chr11:72015612	LOC100128494, NUMA1	R631W	Inborn genetic diseases	Uncertain significance (May 23, 2023)	criteria provided, single submitter
Select item 228950792.	NM_006185.4(NUMA1):c.1868A>G (p.Gln623Arg) GRCh37: Chr11:71726681 GRCh38: Chr11:72015635	NUMA1, LOC100128494	Q623R	Inborn genetic diseases	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 226041493.	NM_006185.4(NUMA1):c.1856T>C (p.Ile619Thr) GRCh37: Chr11:71726693 GRCh38: Chr11:72015647	LOC100128494, NUMA1	I619T	Inborn genetic diseases	Uncertain significance (Nov 10, 2021)	criteria provided, single submitter
Select item 252909794.	NM_006185.4(NUMA1):c.1781C>T (p.Ala594Val) GRCh37: Chr11:71726768 GRCh38: Chr11:72015722	LOC100128494, NUMA1	A594V	Inborn genetic diseases	Uncertain significance (Mar 24, 2023)	criteria provided, single submitter
Select item 226315195.	NM_006185.4(NUMA1):c.1744G>A (p.Ala582Thr) GRCh37: Chr11:71726805 GRCh38: Chr11:72015759	LOC100128494, NUMA1	A582T	Inborn genetic diseases	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 234359696.	NM_006185.4(NUMA1):c.1712C>T (p.Ala571Val) GRCh37: Chr11:71726837 GRCh38: Chr11:72015791	NUMA1, LOC100128494	A571V	Inborn genetic diseases	Uncertain significance (Dec 15, 2022)	criteria provided, single submitter
Select item 221000097.	NM_006185.4(NUMA1):c.1652A>G (p.His551Arg) GRCh37: Chr11:71726897 GRCh38: Chr11:72015851	NUMA1, LOC100128494	H551R	Inborn genetic diseases	Uncertain significance (May 13, 2022)	criteria provided, single submitter
Select item 247317398.	NM_006185.4(NUMA1):c.1483C>T (p.Arg495Trp) GRCh37: Chr11:71727066 GRCh38: Chr11:72016020	LOC100128494, NUMA1	R495W	Inborn genetic diseases	Uncertain significance (Mar 1, 2023)	criteria provided, single submitter
Select item 238721599.	NM_006185.4(NUMA1):c.1462G>A (p.Ala488Thr) GRCh37: Chr11:71727087 GRCh38: Chr11:72016041	NUMA1, LOC100128494	A488T	Inborn genetic diseases	Uncertain significance (Jan 4, 2022)	criteria provided, single submitter
Select item 711463100.	NM_006185.4(NUMA1):c.1430A>G (p.Asn477Ser) GRCh37: Chr11:71727119 GRCh38: Chr11:72016073	LOC100128494, NUMA1	N477S	not provided	Likely benign (Apr 1, 2023)	criteria provided, multiple submitters, no conflicts

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