ClinVar for MedGen (Select 44252) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24343271.	NM_001199397.3(NEK1):c.1208G>A (p.Arg403Lys) GRCh37: Chr4:170482689 GRCh38: Chr4:169561538	NEK1	R386K, R403K	Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (Feb 25, 2022)	criteria provided, single submitter
Select item 24257812.	NC_000004.11:g.(?_170482611)_(170523781_?)dup GRCh37: Chr4:170482611-170523781	NEK1		Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (Oct 7, 2022)	criteria provided, single submitter
Select item 24257803.	NC_000004.11:g.(?_170482611)_(170483367_?)del GRCh37: Chr4:170482611-170483367	NEK1		Short-rib thoracic dysplasia 6 with or without polydactyly	Likely pathogenic (Aug 15, 2022)	criteria provided, single submitter
Select item 24257794.	NC_000004.11:g.(?_169433478)_(170523781_?)del GRCh37: Chr4:169433478-170523781	NEK1, CBR4, PALLD, SH3RF1		Short-rib thoracic dysplasia 6 with or without polydactyly	Pathogenic (Aug 10, 2022)	criteria provided, single submitter
Select item 24154705.	NM_001199397.3(NEK1):c.3584-11T>C GRCh37: Chr4:170321813 GRCh38: Chr4:169400662	NEK1		Short-rib thoracic dysplasia 6 with or without polydactyly	Likely benign (Jun 12, 2022)	criteria provided, single submitter
Select item 24141276.	NM_001199397.3(NEK1):c.1020+1G>A GRCh37: Chr4:170498078 GRCh38: Chr4:169576927	NEK1		Short-rib thoracic dysplasia 6 with or without polydactyly	Likely pathogenic (Oct 24, 2022)	criteria provided, single submitter
Select item 22008367.	NM_001199397.3(NEK1):c.1107A>G (p.Glu369=) GRCh37: Chr4:170483016 GRCh38: Chr4:169561865	NEK1		Short-rib thoracic dysplasia 6 with or without polydactyly	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 21979478.	NM_001199397.3(NEK1):c.3035A>C (p.Glu1012Ala) GRCh37: Chr4:170345891 GRCh38: Chr4:169424740	NEK1	E1012A, E851A, E967A, E968A, E915A, E940A, E984A	Short-rib thoracic dysplasia 6 with or without polydactyly	Likely benign (Aug 27, 2022)	criteria provided, single submitter
Select item 21947399.	NM_001199397.3(NEK1):c.1798C>T (p.Arg600Cys) GRCh37: Chr4:170429434 GRCh38: Chr4:169508283	NEK1	R528C, R530C, R555C, R572C, R600C, R503C, R556C	Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (Aug 1, 2022)	criteria provided, single submitter
Select item 219357410.	NM_001199397.3(NEK1):c.1020+20C>T GRCh37: Chr4:170498059 GRCh38: Chr4:169576908	NEK1		Short-rib thoracic dysplasia 6 with or without polydactyly	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 219050711.	NM_001199397.3(NEK1):c.3783T>G (p.Asn1261Lys) GRCh37: Chr4:170321440 GRCh38: Chr4:169400289	NEK1	N1164K, N1261K, N1217K, N1216K, N1100K, N1189K, N1233K	Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (Feb 21, 2022)	criteria provided, single submitter
Select item 218602712.	NM_001199397.3(NEK1):c.1287A>G (p.Gly429=) GRCh37: Chr4:170477226 GRCh38: Chr4:169556075	NEK1		Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 217923013.	NM_001199397.3(NEK1):c.1900G>A (p.Glu634Lys) GRCh37: Chr4:170428877 GRCh38: Chr4:169507726	NEK1	E634K, E562K, E606K, E537K, E590K, E564K, E589K	Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (Sep 10, 2022)	criteria provided, single submitter
Select item 217113214.	NM_001199397.3(NEK1):c.1301C>A (p.Pro434Gln) GRCh37: Chr4:170477212 GRCh38: Chr4:169556061	NEK1	P392Q, P409Q, P434Q, P417Q	Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (Jan 16, 2022)	criteria provided, single submitter
Select item 216595515.	NM_001199397.3(NEK1):c.2939C>T (p.Ser980Leu) GRCh37: Chr4:170347332 GRCh38: Chr4:169426181	NEK1	S819L, S908L, S883L, S952L, S980L, S936L, S935L	Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (Aug 13, 2022)	criteria provided, single submitter
Select item 216469216.	NM_001199397.3(NEK1):c.3081C>T (p.Val1027=) GRCh37: Chr4:170345845 GRCh38: Chr4:169424694	NEK1		Short-rib thoracic dysplasia 6 with or without polydactyly	Likely benign (Mar 1, 2022)	criteria provided, single submitter
Select item 215862417.	NM_001199397.3(NEK1):c.593C>A (p.Thr198Lys) GRCh37: Chr4:170508723 GRCh38: Chr4:169587572	NEK1	T198K	Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 215541518.	NM_001199397.3(NEK1):c.1319G>A (p.Arg440Gln) GRCh37: Chr4:170477194 GRCh38: Chr4:169556043	NEK1	R398Q, R415Q, R440Q, R423Q	Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 215338019.	NM_001199397.3(NEK1):c.1430+10T>C GRCh37: Chr4:170477073 GRCh38: Chr4:169555922	NEK1		Short-rib thoracic dysplasia 6 with or without polydactyly	Likely benign (Mar 27, 2022)	criteria provided, single submitter
Select item 214993020.	NM_001199397.3(NEK1):c.375T>C (p.Leu125=) GRCh37: Chr4:170511898 GRCh38: Chr4:169590747	NEK1		Short-rib thoracic dysplasia 6 with or without polydactyly	Likely benign (Apr 25, 2022)	criteria provided, single submitter
Select item 214937021.	NM_001199397.3(NEK1):c.488G>C (p.Cys163Ser) GRCh37: Chr4:170509863 GRCh38: Chr4:169588712	NEK1	C163S	Inborn genetic diseases, Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 214899222.	NM_001199397.3(NEK1):c.2588-4A>C GRCh37: Chr4:170359414 GRCh38: Chr4:169438263	NEK1		Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (Aug 2, 2022)	criteria provided, single submitter
Select item 214739123.	NM_001199397.3(NEK1):c.397-5T>C GRCh37: Chr4:170510670 GRCh38: Chr4:169589519	NEK1		Short-rib thoracic dysplasia 6 with or without polydactyly	Likely benign (Oct 16, 2022)	criteria provided, single submitter
Select item 214656924.	NM_001199397.3(NEK1):c.1816A>G (p.Lys606Glu) GRCh37: Chr4:170429416 GRCh38: Chr4:169508265	NEK1	K561E, K606E, K534E, K536E, K562E, K509E, K578E	Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 214572425.	NM_001199397.3(NEK1):c.1800C>T (p.Arg600=) GRCh37: Chr4:170429432 GRCh38: Chr4:169508281	NEK1		Short-rib thoracic dysplasia 6 with or without polydactyly	Likely benign (Jul 26, 2022)	criteria provided, single submitter
Select item 214423726.	NM_001199397.3(NEK1):c.953C>T (p.Pro318Leu) GRCh37: Chr4:170498146 GRCh38: Chr4:169576995	NEK1	P318L	Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (May 30, 2022)	criteria provided, single submitter
Select item 214388127.	NM_001199397.3(NEK1):c.3794A>G (p.His1265Arg) GRCh37: Chr4:170321429 GRCh38: Chr4:169400278	NEK1	H1104R, H1220R, H1221R, H1193R, H1237R, H1168R, H1265R	Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 214062328.	NM_001199397.3(NEK1):c.2323C>T (p.His775Tyr) GRCh37: Chr4:170398386 GRCh38: Chr4:169477235	NEK1	H731Y, H678Y, H747Y, H775Y, H673Y, H703Y, H730Y	Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 214030829.	NM_001199397.3(NEK1):c.3847+13C>T GRCh37: Chr4:170321363 GRCh38: Chr4:169400212	NEK1		Short-rib thoracic dysplasia 6 with or without polydactyly	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 213882930.	NM_001199397.3(NEK1):c.1429A>G (p.Arg477Gly) GRCh37: Chr4:170477084 GRCh38: Chr4:169555933	NEK1	R435G, R460G, R452G, R477G	Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (Jan 19, 2022)	criteria provided, single submitter
Select item 213315331.	NM_001199397.3(NEK1):c.3283C>G (p.Pro1095Ala) GRCh37: Chr4:170327838 GRCh38: Chr4:169406687	NEK1	P1051A, P1067A, P998A, P1050A, P1095A, P934A, P1023A	Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (Sep 12, 2022)	criteria provided, single submitter
Select item 213293232.	NM_001199397.3(NEK1):c.1843A>G (p.Asn615Asp) GRCh37: Chr4:170428934 GRCh38: Chr4:169507783	NEK1	N545D, N518D, N570D, N571D, N587D, N615D, N543D	Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 213031933.	NM_001199397.3(NEK1):c.904G>C (p.Val302Leu) GRCh37: Chr4:170498195 GRCh38: Chr4:169577044	NEK1	V302L	Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 212740134.	NM_001199397.3(NEK1):c.3581C>A (p.Ser1194Ter) GRCh37: Chr4:170322805 GRCh38: Chr4:169401654	NEK1	S1033, S1097, S1122, S1149, S1150, S1166, S1194*	Short-rib thoracic dysplasia 6 with or without polydactyly	Pathogenic (Apr 17, 2022)	criteria provided, single submitter
Select item 212649835.	NM_001199397.3(NEK1):c.1192-6C>T GRCh37: Chr4:170482711 GRCh38: Chr4:169561560	NEK1		Short-rib thoracic dysplasia 6 with or without polydactyly	Likely benign (Apr 15, 2022)	criteria provided, single submitter
Select item 212382336.	NM_001199397.3(NEK1):c.2125A>G (p.Lys709Glu) GRCh37: Chr4:170400568 GRCh38: Chr4:169479417	NEK1	K637E, K664E, K665E, K607E, K709E, K681E, K612E	Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (Apr 9, 2022)	criteria provided, single submitter
Select item 211872937.	NM_001199397.3(NEK1):c.1021-15T>G GRCh37: Chr4:170483362 GRCh38: Chr4:169562211	NEK1		Short-rib thoracic dysplasia 6 with or without polydactyly	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 211538238.	NM_001199397.3(NEK1):c.3204T>C (p.Phe1068=) GRCh37: Chr4:170345722 GRCh38: Chr4:169424571	NEK1		Short-rib thoracic dysplasia 6 with or without polydactyly	Likely benign (Mar 27, 2022)	criteria provided, single submitter
Select item 210999839.	NM_001199397.3(NEK1):c.2243T>G (p.Leu748Arg) GRCh37: Chr4:170398466 GRCh38: Chr4:169477315	NEK1	L704R, L748R, L646R, L676R, L651R, L703R, L720R	Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (Aug 14, 2022)	criteria provided, single submitter
Select item 210852040.	NM_001199397.3(NEK1):c.1177C>T (p.Gln393Ter) GRCh37: Chr4:170482852 GRCh38: Chr4:169561701	NEK1	Q393*	Short-rib thoracic dysplasia 6 with or without polydactyly	Pathogenic (Sep 24, 2022)	criteria provided, single submitter
Select item 210633541.	NM_001199397.3(NEK1):c.3086A>G (p.Gln1029Arg) GRCh37: Chr4:170345840 GRCh38: Chr4:169424689	NEK1	Q1001R, Q984R, Q868R, Q957R, Q985R, Q932R, Q1029R	Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (Mar 8, 2022)	criteria provided, single submitter
Select item 210419542.	NM_001199397.3(NEK1):c.2110G>A (p.Val704Ile) GRCh37: Chr4:170400583 GRCh38: Chr4:169479432	NEK1	V602I, V607I, V660I, V676I, V659I, V704I, V632I	Inborn genetic diseases, Short-rib thoracic dysplasia 6 with or without polydactyly	Conflicting interpretations of pathogenicity (Mar 20, 2023)	criteria provided, conflicting interpretations
Select item 210214743.	NM_001199397.3(NEK1):c.1438C>G (p.Leu480Val) GRCh37: Chr4:170476995 GRCh38: Chr4:169555844	NEK1	L438V, L480V, L463V	Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 209786544.	NM_001199397.3(NEK1):c.3335A>G (p.Asp1112Gly) GRCh37: Chr4:170327786 GRCh38: Chr4:169406635	NEK1	D1067G, D1084G, D1040G, D1068G, D1112G, D1015G, D951G	Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 209779345.	NM_001199397.3(NEK1):c.1191+5G>A GRCh37: Chr4:170482833 GRCh38: Chr4:169561682	NEK1		Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (Feb 17, 2022)	criteria provided, single submitter
Select item 209238046.	NM_001199397.3(NEK1):c.1266+18A>G GRCh37: Chr4:170482613 GRCh38: Chr4:169561462	NEK1		Short-rib thoracic dysplasia 6 with or without polydactyly	Likely benign (May 16, 2022)	criteria provided, single submitter
Select item 208369847.	NM_001199397.3(NEK1):c.1833+19T>C GRCh37: Chr4:170429380 GRCh38: Chr4:169508229	NEK1		Short-rib thoracic dysplasia 6 with or without polydactyly	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 208300848.	NM_001199397.3(NEK1):c.1142T>A (p.Ile381Asn) GRCh37: Chr4:170482887 GRCh38: Chr4:169561736	NEK1	I381N	Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (Mar 9, 2022)	criteria provided, single submitter
Select item 208214249.	NM_001199397.3(NEK1):c.1080+3A>G GRCh37: Chr4:170483285 GRCh38: Chr4:169562134	NEK1		Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 208160550.	NM_001199397.3(NEK1):c.2354G>A (p.Arg785His) GRCh37: Chr4:170398355 GRCh38: Chr4:169477204	NEK1	R688H, R741H, R740H, R683H, R713H, R757H, R785H	Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 208066451.	NM_001199397.3(NEK1):c.3607A>T (p.Ser1203Cys) GRCh37: Chr4:170321779 GRCh38: Chr4:169400628	NEK1	S1106C, S1175C, S1042C, S1158C, S1131C, S1159C, S1203C	Inborn genetic diseases, Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (Jul 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 208041552.	NM_001199397.3(NEK1):c.1242T>C (p.Ser414=) GRCh37: Chr4:170482655 GRCh38: Chr4:169561504	NEK1		Short-rib thoracic dysplasia 6 with or without polydactyly	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 207769853.	NM_001199397.3(NEK1):c.2213G>A (p.Arg738Gln) GRCh37: Chr4:170398496 GRCh38: Chr4:169477345	NEK1	R641Q, R694Q, R636Q, R666Q, R693Q, R710Q, R738Q	Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (Jul 9, 2022)	criteria provided, single submitter
Select item 207649254.	NM_001199397.3(NEK1):c.1478G>A (p.Gly493Asp) GRCh37: Chr4:170476955 GRCh38: Chr4:169555804	NEK1	G476D, G451D, G493D	Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (Jun 3, 2022)	criteria provided, single submitter
Select item 207531255.	NM_001199397.3(NEK1):c.1888C>T (p.Arg630Cys) GRCh37: Chr4:170428889 GRCh38: Chr4:169507738	NEK1	R558C, R602C, R630C, R533C, R585C, R560C, R586C	Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 207529056.	NM_001199397.3(NEK1):c.3772A>G (p.Ile1258Val) GRCh37: Chr4:170321451 GRCh38: Chr4:169400300	NEK1	I1097V, I1186V, I1214V, I1258V, I1161V, I1230V, I1213V	Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 207354257.	NM_001199397.3(NEK1):c.214+16C>T GRCh37: Chr4:170523143 GRCh38: Chr4:169601992	NEK1		Short-rib thoracic dysplasia 6 with or without polydactyly	Likely benign (Sep 2, 2022)	criteria provided, single submitter
Select item 207329558.	NM_001199397.3(NEK1):c.2126A>G (p.Lys709Arg) GRCh37: Chr4:170400567 GRCh38: Chr4:169479416	NEK1	K612R, K709R, K665R, K607R, K637R, K664R, K681R	Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 206648559.	NM_001199397.3(NEK1):c.3374+10A>T GRCh37: Chr4:170327737 GRCh38: Chr4:169406586	NEK1		Short-rib thoracic dysplasia 6 with or without polydactyly	Benign (Sep 28, 2022)	criteria provided, single submitter
Select item 206583860.	NM_001199397.3(NEK1):c.67T>C (p.Ser23Pro) GRCh37: Chr4:170523715 GRCh38: Chr4:169602564	NEK1	S23P	Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (Feb 24, 2022)	criteria provided, single submitter
Select item 206321961.	NM_001199397.3(NEK1):c.2310A>C (p.Glu770Asp) GRCh37: Chr4:170398399 GRCh38: Chr4:169477248	NEK1	E725D, E698D, E742D, E668D, E770D, E673D, E726D	Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 206166862.	NM_001199397.3(NEK1):c.843G>A (p.Ser281=) GRCh37: Chr4:170502018 GRCh38: Chr4:169580867	NEK1		Short-rib thoracic dysplasia 6 with or without polydactyly	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 206165363.	NM_001199397.3(NEK1):c.2206-12C>T GRCh37: Chr4:170398515 GRCh38: Chr4:169477364	NEK1		Short-rib thoracic dysplasia 6 with or without polydactyly	Likely benign (Oct 31, 2022)	criteria provided, single submitter
Select item 206136564.	NM_001199397.3(NEK1):c.936C>T (p.Ala312=) GRCh37: Chr4:170498163 GRCh38: Chr4:169577012	NEK1		Short-rib thoracic dysplasia 6 with or without polydactyly	Likely benign (Jun 4, 2022)	criteria provided, single submitter
Select item 206012065.	NM_001199397.3(NEK1):c.3579C>T (p.His1193=) GRCh37: Chr4:170322807 GRCh38: Chr4:169401656	NEK1		Short-rib thoracic dysplasia 6 with or without polydactyly	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 205848266.	NM_001199397.3(NEK1):c.842C>T (p.Ser281Leu) GRCh37: Chr4:170502019 GRCh38: Chr4:169580868	NEK1	S281L	Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (Dec 19, 2021)	criteria provided, single submitter
Select item 205807767.	NM_001199397.3(NEK1):c.1520T>C (p.Leu507Ser) GRCh37: Chr4:170476913 GRCh38: Chr4:169555762	NEK1	L465S, L490S, L507S	Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 205679568.	NM_001199397.3(NEK1):c.2140-14A>G GRCh37: Chr4:170398662 GRCh38: Chr4:169477511	NEK1		Short-rib thoracic dysplasia 6 with or without polydactyly	Likely benign (Oct 26, 2022)	criteria provided, single submitter
Select item 205496469.	NM_001199397.3(NEK1):c.1066A>T (p.Arg356Trp) GRCh37: Chr4:170483302 GRCh38: Chr4:169562151	NEK1	R356W	Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 205022570.	NM_001199397.3(NEK1):c.1911+19dup GRCh37: Chr4:170428846-170428847 GRCh38: Chr4:169507695-169507696	NEK1		Short-rib thoracic dysplasia 6 with or without polydactyly	Likely benign (Jul 9, 2022)	criteria provided, single submitter
Select item 204946071.	NM_001199397.3(NEK1):c.2435-3T>C GRCh37: Chr4:170384549 GRCh38: Chr4:169463398	NEK1		Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 204808572.	NM_001199397.3(NEK1):c.2796A>G (p.Gln932=) GRCh37: Chr4:170354785 GRCh38: Chr4:169433634	NEK1		Short-rib thoracic dysplasia 6 with or without polydactyly	Likely benign (Mar 6, 2022)	criteria provided, single submitter
Select item 204335073.	NM_001199397.3(NEK1):c.694C>T (p.Arg232Cys) GRCh37: Chr4:170506613 GRCh38: Chr4:169585462	NEK1	R232C	Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (Apr 7, 2022)	criteria provided, single submitter
Select item 204278274.	NM_001199397.3(NEK1):c.1469G>A (p.Gly490Glu) GRCh37: Chr4:170476964 GRCh38: Chr4:169555813	NEK1	G448E, G473E, G490E	Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (Aug 24, 2022)	criteria provided, single submitter
Select item 204157875.	NM_001199397.3(NEK1):c.1634T>G (p.Met545Arg) GRCh37: Chr4:170458991 GRCh38: Chr4:169537840	NEK1	M503R, M545R, M476R, M528R, M501R	Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (Jun 2, 2022)	criteria provided, single submitter
Select item 203867876.	NM_001199397.3(NEK1):c.396+20A>G GRCh37: Chr4:170511857 GRCh38: Chr4:169590706	NEK1		Short-rib thoracic dysplasia 6 with or without polydactyly	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 203867777.	NM_001199397.3(NEK1):c.397-20T>G GRCh37: Chr4:170510685 GRCh38: Chr4:169589534	NEK1		Short-rib thoracic dysplasia 6 with or without polydactyly	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 202652078.	NM_001199397.3(NEK1):c.2344T>G (p.Ser782Ala) GRCh37: Chr4:170398365 GRCh38: Chr4:169477214	NEK1	S710A, S738A, S680A, S685A, S737A, S754A, S782A	Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (Aug 17, 2022)	criteria provided, single submitter
Select item 202122779.	NM_001199397.3(NEK1):c.869-13T>C GRCh37: Chr4:170498243 GRCh38: Chr4:169577092	NEK1		Short-rib thoracic dysplasia 6 with or without polydactyly	Likely benign (Aug 3, 2022)	criteria provided, single submitter
Select item 202093080.	NM_001199397.3(NEK1):c.1821T>C (p.Leu607=) GRCh37: Chr4:170429411 GRCh38: Chr4:169508260	NEK1		Short-rib thoracic dysplasia 6 with or without polydactyly	Likely benign (Aug 1, 2022)	criteria provided, single submitter
Select item 202029981.	NM_001199397.3(NEK1):c.3315T>C (p.Leu1105=) GRCh37: Chr4:170327806 GRCh38: Chr4:169406655	NEK1		Short-rib thoracic dysplasia 6 with or without polydactyly	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 201603182.	NM_001199397.3(NEK1):c.3102G>T (p.Gln1034His) GRCh37: Chr4:170345824 GRCh38: Chr4:169424673	NEK1	Q989H, Q1034H, Q873H, Q962H, Q937H, Q990H, Q1006H	Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 200976583.	NM_001199397.3(NEK1):c.887G>A (p.Gly296Glu) GRCh37: Chr4:170498212 GRCh38: Chr4:169577061	NEK1	G296E	Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (Sep 8, 2022)	criteria provided, single submitter
Select item 200450784.	NM_001199397.3(NEK1):c.3342C>T (p.Asn1114=) GRCh37: Chr4:170327779 GRCh38: Chr4:169406628	NEK1		Short-rib thoracic dysplasia 6 with or without polydactyly	Likely benign (Feb 21, 2022)	criteria provided, single submitter
Select item 200105985.	NM_001199397.3(NEK1):c.1149T>C (p.Ser383=) GRCh37: Chr4:170482880 GRCh38: Chr4:169561729	NEK1		Short-rib thoracic dysplasia 6 with or without polydactyly	Likely benign (May 30, 2022)	criteria provided, single submitter
Select item 199580486.	NM_001199397.3(NEK1):c.1834-11T>A GRCh37: Chr4:170428954 GRCh38: Chr4:169507803	NEK1		Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 199120187.	NM_001199397.3(NEK1):c.3727G>A (p.Asp1243Asn) GRCh37: Chr4:170321496 GRCh38: Chr4:169400345	NEK1	D1082N, D1146N, D1215N, D1171N, D1198N, D1199N, D1243N	Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (Jul 28, 2022)	criteria provided, single submitter
Select item 199086188.	NM_001199397.3(NEK1):c.1191+8G>A GRCh37: Chr4:170482830 GRCh38: Chr4:169561679	NEK1		Short-rib thoracic dysplasia 6 with or without polydactyly	Likely benign (Jun 26, 2022)	criteria provided, single submitter
Select item 199086089.	NM_001199397.3(NEK1):c.1243G>A (p.Ala415Thr) GRCh37: Chr4:170482654 GRCh38: Chr4:169561503	NEK1	A415T, A398T	Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (Jun 26, 2022)	criteria provided, single submitter
Select item 198432090.	NM_001199397.3(NEK1):c.1267-11T>G GRCh37: Chr4:170477257 GRCh38: Chr4:169556106	NEK1		Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 197855891.	NM_001199397.3(NEK1):c.3770A>G (p.Asn1257Ser) GRCh37: Chr4:170321453 GRCh38: Chr4:169400302	NEK1	N1160S, N1213S, N1096S, N1257S, N1185S, N1212S, N1229S	Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (May 21, 2022)	criteria provided, single submitter
Select item 197679592.	NM_001199397.3(NEK1):c.2725T>A (p.Ser909Thr) GRCh37: Chr4:170359273 GRCh38: Chr4:169438122	NEK1	S865T, S881T, S812T, S909T, S837T, S864T	Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (Jul 3, 2022)	criteria provided, single submitter
Select item 197631993.	NM_001199397.3(NEK1):c.2505G>A (p.Pro835=) GRCh37: Chr4:170384476 GRCh38: Chr4:169463325	NEK1		Short-rib thoracic dysplasia 6 with or without polydactyly	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 197571594.	NM_001199397.3(NEK1):c.1287A>T (p.Gly429=) GRCh37: Chr4:170477226 GRCh38: Chr4:169556075	NEK1		Short-rib thoracic dysplasia 6 with or without polydactyly	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 197538295.	NM_001199397.3(NEK1):c.1249G>A (p.Gly417Arg) GRCh37: Chr4:170482648 GRCh38: Chr4:169561497	NEK1	G417R, G400R	Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 197435196.	NM_001199397.3(NEK1):c.1753T>C (p.Tyr585His) GRCh37: Chr4:170429479 GRCh38: Chr4:169508328	NEK1	Y515H, Y541H, Y557H, Y513H, Y540H, Y585H, Y488H	Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 197312097.	NM_001199397.3(NEK1):c.3710T>C (p.Ile1237Thr) GRCh37: Chr4:170321676 GRCh38: Chr4:169400525	NEK1	I1140T, I1192T, I1076T, I1165T, I1209T, I1237T, I1193T	Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 196987398.	NM_001199397.3(NEK1):c.990C>T (p.His330=) GRCh37: Chr4:170498109 GRCh38: Chr4:169576958	NEK1		Short-rib thoracic dysplasia 6 with or without polydactyly	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 196745399.	NM_001199397.3(NEK1):c.3302G>A (p.Arg1101His) GRCh37: Chr4:170327819 GRCh38: Chr4:169406668	NEK1	R1004H, R1073H, R940H, R1056H, R1057H, R1029H, R1101H	Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 1965963100.	NM_001199397.3(NEK1):c.2206-11G>A GRCh37: Chr4:170398514 GRCh38: Chr4:169477363	NEK1		Short-rib thoracic dysplasia 6 with or without polydactyly	Benign (Oct 31, 2022)	criteria provided, single submitter

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