ClinVar for MedGen (Select 347655) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25848631.	NM_144508.5(KNL1):c.5463C>G (p.Cys1821Trp) GRCh37: Chr15:40920354 GRCh38: Chr15:40628156	KNL1	C1847W, C1821W	Microcephaly 4, primary, autosomal recessive	Uncertain significance	criteria provided, single submitter
Select item 25848622.	NM_144508.5(KNL1):c.220A>T (p.Met74Leu) GRCh37: Chr15:40902465 GRCh38: Chr15:40610267	KNL1	M74L	Microcephaly 4, primary, autosomal recessive	Uncertain significance	criteria provided, single submitter
Select item 25050803.	NM_144508.5(KNL1):c.3490C>A (p.Leu1164Met) GRCh37: Chr15:40915952 GRCh38: Chr15:40623754	KNL1	L1164M, L1190M	Microcephaly 4, primary, autosomal recessive	not provided	no assertion provided
Select item 24410154.	NM_144508.5(KNL1):c.197_197+4del GRCh37: Chr15:40901103-40901107 GRCh38: Chr15:40608905-40608909	KNL1		Microcephaly 4, primary, autosomal recessive	Likely pathogenic (May 25, 2022)	criteria provided, single submitter
Select item 24332595.	NM_144508.5(KNL1):c.6584A>G (p.Gln2195Arg) GRCh37: Chr15:40949339 GRCh38: Chr15:40657141	KNL1	Q2195R, Q2221R	Microcephaly 4, primary, autosomal recessive	Uncertain significance (Jul 28, 2022)	criteria provided, single submitter
Select item 17016896.	NM_144508.5(KNL1):c.2987G>A (p.Ser996Asn) GRCh37: Chr15:40915449 GRCh38: Chr15:40623251	KNL1	S1022N, S996N	Microcephaly 4, primary, autosomal recessive	Uncertain significance (Oct 2, 2021)	criteria provided, single submitter
Select item 16903057.	NM_144508.5(KNL1):c.1076del (p.Gly359fs) GRCh37: Chr15:40913537 GRCh38: Chr15:40621339	KNL1	G359fs, G385fs	Microcephaly 4, primary, autosomal recessive	Pathogenic (May 13, 2022)	criteria provided, single submitter
Select item 16842878.	NM_144508.5(KNL1):c.2044_2047del (p.Lys681_Gln682insTer) GRCh37: Chr15:40914503-40914506 GRCh38: Chr15:40622305-40622308	KNL1		Microcephaly 4, primary, autosomal recessive	Likely pathogenic (Feb 1, 2022)	criteria provided, single submitter
Select item 11926219.	NM_144508.5(KNL1):c.6595-27C>T GRCh37: Chr15:40949526 GRCh38: Chr15:40657328	KNL1		not provided, Microcephaly 4, primary, autosomal recessive	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 119262010.	NM_144508.5(KNL1):c.6416-84C>T GRCh37: Chr15:40947023 GRCh38: Chr15:40654825	KNL1		not provided, Microcephaly 4, primary, autosomal recessive	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 119261911.	NM_144508.5(KNL1):c.6173-13del GRCh37: Chr15:40942716 GRCh38: Chr15:40650518	KNL1		not provided, Microcephaly 4, primary, autosomal recessive	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 119261812.	NM_144508.5(KNL1):c.322+123dup GRCh37: Chr15:40907698-40907699 GRCh38: Chr15:40615500-40615501	KNL1		not provided, Microcephaly 4, primary, autosomal recessive	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 103317913.	NM_144508.5(KNL1):c.3139G>A (p.Asp1047Asn) GRCh37: Chr15:40915601 GRCh38: Chr15:40623403	KNL1	D1047N, D1073N	Microcephaly 4, primary, autosomal recessive	Uncertain significance (Apr 9, 2018)	criteria provided, single submitter
Select item 103317814.	NM_144508.5(KNL1):c.250+3A>G GRCh37: Chr15:40902498 GRCh38: Chr15:40610300	KNL1		Microcephaly 4, primary, autosomal recessive	Uncertain significance (Dec 6, 2018)	criteria provided, single submitter
Select item 102783715.	NM_144508.5(KNL1):c.4980G>C (p.Lys1660Asn) GRCh37: Chr15:40917442 GRCh38: Chr15:40625244	KNL1	K1686N, K1660N	Microcephaly 4, primary, autosomal recessive	Uncertain significance (Sep 11, 2020)	criteria provided, single submitter
Select item 102783616.	NM_144508.5(KNL1):c.2162C>A (p.Thr721Lys) GRCh37: Chr15:40914624 GRCh38: Chr15:40622426	KNL1	T721K, T747K	Microcephaly 4, primary, autosomal recessive	Uncertain significance (Oct 29, 2019)	criteria provided, single submitter
Select item 102783517.	NM_144508.5(KNL1):c.2014A>G (p.Ile672Val) GRCh37: Chr15:40914476 GRCh38: Chr15:40622278	KNL1	I672V, I698V	Microcephaly 4, primary, autosomal recessive	Uncertain significance (Aug 17, 2019)	criteria provided, single submitter
Select item 102783418.	NM_144508.5(KNL1):c.1393A>C (p.Asn465His) GRCh37: Chr15:40913855 GRCh38: Chr15:40621657	KNL1	N465H, N491H	not provided, Microcephaly 4, primary, autosomal recessive, Inborn genetic diseases	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99300619.	NM_144508.5(KNL1):c.2538A>C (p.Lys846Asn) GRCh37: Chr15:40915000 GRCh38: Chr15:40622802	KNL1	K846N, K872N	Microcephaly 4, primary, autosomal recessive	Uncertain significance (Sep 10, 2020)	no assertion criteria provided
Select item 88789120.	NM_144508.5(KNL1):c.5853C>A (p.Asn1951Lys) GRCh37: Chr15:40937249 GRCh38: Chr15:40645051	KNL1	N1977K, N1951K	Microcephaly 4, primary, autosomal recessive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88789021.	NM_144508.5(KNL1):c.5769T>C (p.Asp1923=) GRCh37: Chr15:40933196 GRCh38: Chr15:40640998	KNL1		Microcephaly 4, primary, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88788922.	NM_144508.5(KNL1):c.5560A>G (p.Ile1854Val) GRCh37: Chr15:40920853 GRCh38: Chr15:40628655	KNL1	I1854V, I1880V	Microcephaly 4, primary, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88775723.	NM_144508.5(KNL1):c.1789A>G (p.Ser597Gly) GRCh37: Chr15:40914251 GRCh38: Chr15:40622053	KNL1	S623G, S597G	Microcephaly 4, primary, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88770124.	NM_144508.5(KNL1):c.375+11A>C GRCh37: Chr15:40911220 GRCh38: Chr15:40619022	KNL1		Microcephaly 4, primary, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88770025.	NM_144508.5(KNL1):c.250+4A>G GRCh37: Chr15:40902499 GRCh38: Chr15:40610301	KNL1		Microcephaly 4, primary, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88669726.	NM_144508.5(KNL1):c.*460C>T GRCh37: Chr15:40954846 GRCh38: Chr15:40662648	KNL1		Microcephaly 4, primary, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88669627.	NM_144508.5(KNL1):c.*238T>C GRCh37: Chr15:40954624 GRCh38: Chr15:40662426	KNL1		Microcephaly 4, primary, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88664528.	NM_144508.5(KNL1):c.5391T>A (p.His1797Gln) GRCh37: Chr15:40920282 GRCh38: Chr15:40628084	KNL1	H1797Q, H1823Q	Microcephaly 4, primary, autosomal recessive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88664429.	NM_144508.5(KNL1):c.5289G>A (p.Thr1763=) GRCh37: Chr15:40917751 GRCh38: Chr15:40625553	KNL1		Microcephaly 4, primary, autosomal recessive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88664330.	NM_144508.5(KNL1):c.5273A>G (p.Asn1758Ser) GRCh37: Chr15:40917735 GRCh38: Chr15:40625537	KNL1	N1758S, N1784S	Microcephaly 4, primary, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88657631.	NM_144508.5(KNL1):c.3328T>G (p.Leu1110Val) GRCh37: Chr15:40915790 GRCh38: Chr15:40623592	KNL1	L1110V, L1136V	Microcephaly 4, primary, autosomal recessive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88657532.	NM_144508.5(KNL1):c.3200G>A (p.Ser1067Asn) GRCh37: Chr15:40915662 GRCh38: Chr15:40623464	KNL1	S1093N, S1067N	Microcephaly 4, primary, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88651633.	NM_144508.5(KNL1):c.1754A>G (p.Gln585Arg) GRCh37: Chr15:40914216 GRCh38: Chr15:40622018	KNL1	Q611R, Q585R	Microcephaly 4, primary, autosomal recessive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88651534.	NM_144508.5(KNL1):c.1523T>A (p.Ile508Lys) GRCh37: Chr15:40913985 GRCh38: Chr15:40621787	KNL1	I534K, I508K	Microcephaly 4, primary, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88651435.	NM_144508.5(KNL1):c.1509A>G (p.Gln503=) GRCh37: Chr15:40913971 GRCh38: Chr15:40621773	KNL1		Microcephaly 4, primary, autosomal recessive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88645036.	NM_144508.5(KNL1):c.143A>G (p.Asn48Ser) GRCh37: Chr15:40901052 GRCh38: Chr15:40608854	KNL1	N48S	Microcephaly 4, primary, autosomal recessive	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 88568837.	NM_144508.5(KNL1):c.*28A>G GRCh37: Chr15:40954414 GRCh38: Chr15:40662216	KNL1		Microcephaly 4, primary, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88568738.	NM_144508.5(KNL1):c.6439C>T (p.Arg2147Cys) GRCh37: Chr15:40947130 GRCh38: Chr15:40654932	KNL1	R2147C, R2173C	Microcephaly 4, primary, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88568639.	NM_144508.5(KNL1):c.6392C>T (p.Thr2131Ile) GRCh37: Chr15:40944280 GRCh38: Chr15:40652082	KNL1	T2131I, T2157I	Microcephaly 4, primary, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88562440.	NM_144508.5(KNL1):c.5127A>G (p.Gln1709=) GRCh37: Chr15:40917589 GRCh38: Chr15:40625391	KNL1		Microcephaly 4, primary, autosomal recessive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88562341.	NM_144508.5(KNL1):c.4954A>G (p.Ile1652Val) GRCh37: Chr15:40917416 GRCh38: Chr15:40625218	KNL1	I1678V, I1652V	Microcephaly 4, primary, autosomal recessive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88555742.	NM_144508.5(KNL1):c.2676T>C (p.Asp892=) GRCh37: Chr15:40915138 GRCh38: Chr15:40622940	KNL1		Microcephaly 4, primary, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88549143.	NM_144508.5(KNL1):c.1429A>G (p.Ile477Val) GRCh37: Chr15:40913891 GRCh38: Chr15:40621693	KNL1	I477V, I503V	Microcephaly 4, primary, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88549044.	NM_144508.5(KNL1):c.1352A>G (p.Asn451Ser) GRCh37: Chr15:40913814 GRCh38: Chr15:40621616	KNL1	N451S, N477S	Microcephaly 4, primary, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88543145.	NM_144508.5(KNL1):c.21G>A (p.Glu7=) GRCh37: Chr15:40895150 GRCh38: Chr15:40602952	KNL1		Microcephaly 4, primary, autosomal recessive	Uncertain significance (Feb 16, 2018)	criteria provided, single submitter
Select item 88543046.	NM_144508.5(KNL1):c.10G>T (p.Val4Leu) GRCh37: Chr15:40895139 GRCh38: Chr15:40602941	KNL1	V4L	Microcephaly 4, primary, autosomal recessive	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 88542947.	NM_144508.5(KNL1):c.-13G>T GRCh37: Chr15:40895117 GRCh38: Chr15:40602919	KNL1		Microcephaly 4, primary, autosomal recessive	Uncertain significance (Mar 30, 2018)	criteria provided, single submitter
Select item 88542848.	NM_144508.5(KNL1):c.-100C>G GRCh37: Chr15:40886508 GRCh38: Chr15:40594310	KNL1		Microcephaly 4, primary, autosomal recessive	Uncertain significance (Mar 23, 2018)	criteria provided, single submitter
Select item 88474849.	NM_144508.5(KNL1):c.6215A>G (p.Asn2072Ser) GRCh37: Chr15:40943671 GRCh38: Chr15:40651473	KNL1	N2072S, N2098S	Microcephaly 4, primary, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88474750.	NM_144508.5(KNL1):c.6213-12T>C GRCh37: Chr15:40943657 GRCh38: Chr15:40651459	KNL1		Microcephaly 4, primary, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88474651.	NM_144508.5(KNL1):c.5890-14A>C GRCh37: Chr15:40937840 GRCh38: Chr15:40645642	KNL1		Microcephaly 4, primary, autosomal recessive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88467852.	NM_144508.5(KNL1):c.4573A>G (p.Asn1525Asp) GRCh37: Chr15:40917035 GRCh38: Chr15:40624837	KNL1	N1525D, N1551D	Microcephaly 4, primary, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88461653.	NM_144508.5(KNL1):c.2491G>A (p.Glu831Lys) GRCh37: Chr15:40914953 GRCh38: Chr15:40622755	KNL1	E857K, E831K	Microcephaly 4, primary, autosomal recessive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88461554.	NM_144508.5(KNL1):c.2347G>A (p.Gly783Ser) GRCh37: Chr15:40914809 GRCh38: Chr15:40622611	KNL1	G783S, G809S	Microcephaly 4, primary, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88461455.	NM_144508.5(KNL1):c.2315T>C (p.Ile772Thr) GRCh37: Chr15:40914777 GRCh38: Chr15:40622579	KNL1	I798T, I772T	Microcephaly 4, primary, autosomal recessive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88455856.	NM_144508.5(KNL1):c.1203T>C (p.Thr401=) GRCh37: Chr15:40913665 GRCh38: Chr15:40621467	KNL1		Microcephaly 4, primary, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88455757.	NM_144508.5(KNL1):c.949G>A (p.Asp317Asn) GRCh37: Chr15:40913411 GRCh38: Chr15:40621213	KNL1	D317N, D343N	Microcephaly 4, primary, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88455658.	NM_144508.5(KNL1):c.744G>A (p.Pro248=) GRCh37: Chr15:40913206 GRCh38: Chr15:40621008	KNL1		Microcephaly 4, primary, autosomal recessive, not provided	Conflicting interpretations of pathogenicity (Aug 1, 2023)	criteria provided, conflicting interpretations
Select item 80721159.	NM_144508.5(KNL1):c.1817A>G (p.Lys606Arg) GRCh37: Chr15:40914279 GRCh38: Chr15:40622081	KNL1	K632R, K606R	Inborn genetic diseases, Microcephaly 4, primary, autosomal recessive, not provided	Uncertain significance (May 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 74173160.	NM_144508.5(KNL1):c.5607A>C (p.Thr1869=) GRCh37: Chr15:40921494 GRCh38: Chr15:40629296	KNL1		Microcephaly 4, primary, autosomal recessive, not provided	Conflicting interpretations of pathogenicity (Feb 1, 2023)	criteria provided, conflicting interpretations
Select item 73941361.	NM_144508.5(KNL1):c.5064G>C (p.Pro1688=) GRCh37: Chr15:40917526 GRCh38: Chr15:40625328	KNL1		Microcephaly 4, primary, autosomal recessive, not provided	Conflicting interpretations of pathogenicity (Dec 31, 2019)	criteria provided, conflicting interpretations
Select item 73930262.	NM_144508.5(KNL1):c.5112C>T (p.Asn1704=) GRCh37: Chr15:40917574 GRCh38: Chr15:40625376	KNL1		Microcephaly 4, primary, autosomal recessive, not provided	Conflicting interpretations of pathogenicity (Dec 31, 2019)	criteria provided, conflicting interpretations
Select item 73266963.	NM_144508.5(KNL1):c.6131C>T (p.Pro2044Leu) GRCh37: Chr15:40942535 GRCh38: Chr15:40650337	KNL1	P2044L, P2070L	Microcephaly 4, primary, autosomal recessive, not provided	Benign/Likely benign (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 73266764.	NM_144508.5(KNL1):c.5799-9G>A GRCh37: Chr15:40937186 GRCh38: Chr15:40644988	KNL1		Microcephaly 4, primary, autosomal recessive, not provided	Benign/Likely benign (Jan 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 73022865.	NM_144508.5(KNL1):c.6043A>C (p.Met2015Leu) GRCh37: Chr15:40939221 GRCh38: Chr15:40647023	KNL1	M2015L, M2041L	not provided, Microcephaly 4, primary, autosomal recessive	Conflicting interpretations of pathogenicity (Jun 13, 2018)	criteria provided, conflicting interpretations
Select item 73009766.	NM_144508.5(KNL1):c.3405C>T (p.Ala1135=) GRCh37: Chr15:40915867 GRCh38: Chr15:40623669	KNL1		not provided, Microcephaly 4, primary, autosomal recessive	Benign/Likely benign (Dec 31, 2019)	criteria provided, multiple submitters, no conflicts
Select item 71618267.	NM_144508.5(KNL1):c.451A>G (p.Met151Val) GRCh37: Chr15:40912913 GRCh38: Chr15:40620715	KNL1	M151V, M177V	Microcephaly 4, primary, autosomal recessive, not provided	Benign/Likely benign (Apr 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 49523568.	NM_144508.5(KNL1):c.1521A>G (p.Gln507=) GRCh37: Chr15:40913983 GRCh38: Chr15:40621785	KNL1		Microcephaly 4, primary, autosomal recessive	Likely pathogenic (Jan 1, 2018)	criteria provided, single submitter
Select item 49523469.	NM_144508.5(KNL1):c.6349G>T (p.Asp2117Tyr) GRCh37: Chr15:40944237 GRCh38: Chr15:40652039	KNL1	D2143Y, D2117Y	Microcephaly 4, primary, autosomal recessive	Likely pathogenic (Jan 1, 2018)	criteria provided, single submitter
Select item 48931870.	NM_144508.5(KNL1):c.6416-13T>G GRCh37: Chr15:40947094 GRCh38: Chr15:40654896	KNL1		not provided, Microcephaly 4, primary, autosomal recessive	Conflicting interpretations of pathogenicity (May 8, 2023)	criteria provided, conflicting interpretations
Select item 44549271.	NM_144508.5(KNL1):c.6212+5G>A GRCh37: Chr15:40942786 GRCh38: Chr15:40650588	KNL1		Microcephaly 4, primary, autosomal recessive, not provided	Benign/Likely benign (Dec 11, 2020)	criteria provided, multiple submitters, no conflicts
Select item 43458472.	NM_144508.5(KNL1):c.4745_4746delinsC (p.Leu1582fs) GRCh37: Chr15:40917207-40917208 GRCh38: Chr15:40625009-40625010	KNL1	L1582fs, L1608fs	Microcephaly 4, primary, autosomal recessive	Likely pathogenic (Nov 11, 2015)	criteria provided, single submitter
Select item 43458273.	NM_144508.5(KNL1):c.4231G>A (p.Gly1411Arg) GRCh37: Chr15:40916693 GRCh38: Chr15:40624495	KNL1	G1437R, G1411R	Microcephaly 4, primary, autosomal recessive, not specified, not provided	Conflicting interpretations of pathogenicity (Dec 31, 2019)	criteria provided, conflicting interpretations
Select item 43458074.	NM_144508.5(KNL1):c.1970C>T (p.Pro657Leu) GRCh37: Chr15:40914432 GRCh38: Chr15:40622234	KNL1	P683L, P657L	not specified, Microcephaly 4, primary, autosomal recessive	Uncertain significance (Oct 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 42264175.	NM_144508.5(KNL1):c.6796C>G (p.Pro2266Ala) GRCh37: Chr15:40951619 GRCh38: Chr15:40659421	KNL1	P2292A, P2266A	not specified, Microcephaly 4, primary, autosomal recessive, not provided	Uncertain significance (Apr 12, 2019)	criteria provided, multiple submitters, no conflicts
Select item 42052576.	NM_144508.5(KNL1):c.4772A>G (p.Asn1591Ser) GRCh37: Chr15:40917234 GRCh38: Chr15:40625036	KNL1	N1617S, N1591S	Microcephaly 4, primary, autosomal recessive, not provided	Conflicting interpretations of pathogenicity (Oct 13, 2020)	criteria provided, conflicting interpretations
Select item 37446277.	NM_144508.5(KNL1):c.1214A>G (p.Asp405Gly) GRCh37: Chr15:40913676 GRCh38: Chr15:40621478	KNL1	D431G, D405G	Inborn genetic diseases, Microcephaly 4, primary, autosomal recessive, not provided	Uncertain significance (Sep 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31587478.	NM_144508.5(KNL1):c.*201A>G GRCh37: Chr15:40954587 GRCh38: Chr15:40662389	KNL1		Microcephaly 4, primary, autosomal recessive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31587379.	NM_144508.5(KNL1):c.6594+14G>C GRCh37: Chr15:40949363 GRCh38: Chr15:40657165	KNL1		Microcephaly 4, primary, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31587280.	NM_144508.5(KNL1):c.6594+10G>A GRCh37: Chr15:40949359 GRCh38: Chr15:40657161	KNL1		not provided, Microcephaly 4, primary, autosomal recessive	Conflicting interpretations of pathogenicity (Aug 20, 2018)	criteria provided, conflicting interpretations
Select item 31587181.	NM_144508.5(KNL1):c.6497C>G (p.Pro2166Arg) GRCh37: Chr15:40949252 GRCh38: Chr15:40657054	KNL1	P2192R, P2166R	not provided, Microcephaly 4, primary, autosomal recessive	Uncertain significance (Sep 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 31587082.	NM_144508.5(KNL1):c.5626C>G (p.Leu1876Val) GRCh37: Chr15:40921513 GRCh38: Chr15:40629315	KNL1	L1876V, L1902V	Microcephaly 4, primary, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31586983.	NM_144508.5(KNL1):c.5538A>G (p.Glu1846=) GRCh37: Chr15:40920831 GRCh38: Chr15:40628633	KNL1		not provided, Microcephaly 4, primary, autosomal recessive	Conflicting interpretations of pathogenicity (Dec 31, 2019)	criteria provided, conflicting interpretations
Select item 31586884.	NM_144508.5(KNL1):c.5433A>T (p.Ile1811=) GRCh37: Chr15:40920324 GRCh38: Chr15:40628126	KNL1		not provided, Microcephaly 4, primary, autosomal recessive	Benign/Likely benign (Dec 31, 2019)	criteria provided, multiple submitters, no conflicts
Select item 31586785.	NM_144508.5(KNL1):c.5401G>A (p.Asp1801Asn) GRCh37: Chr15:40920292 GRCh38: Chr15:40628094	KNL1	D1801N, D1827N	Microcephaly 4, primary, autosomal recessive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31586686.	NM_144508.5(KNL1):c.5235G>T (p.Glu1745Asp) GRCh37: Chr15:40917697 GRCh38: Chr15:40625499	KNL1	E1745D, E1771D	Microcephaly 4, primary, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31586587.	NM_144508.5(KNL1):c.4817A>T (p.His1606Leu) GRCh37: Chr15:40917279 GRCh38: Chr15:40625081	KNL1	H1606L, H1632L	Microcephaly 4, primary, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31586488.	NM_144508.5(KNL1):c.4619G>A (p.Gly1540Glu) GRCh37: Chr15:40917081 GRCh38: Chr15:40624883	KNL1	G1540E, G1566E	not provided, Microcephaly 4, primary, autosomal recessive	Conflicting interpretations of pathogenicity (Dec 31, 2019)	criteria provided, conflicting interpretations
Select item 31586389.	NM_144508.5(KNL1):c.4550A>T (p.Asn1517Ile) GRCh37: Chr15:40917012 GRCh38: Chr15:40624814	KNL1	N1517I, N1543I	Microcephaly 4, primary, autosomal recessive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31586290.	NM_144508.5(KNL1):c.4483A>C (p.Ser1495Arg) GRCh37: Chr15:40916945 GRCh38: Chr15:40624747	KNL1	S1495R, S1521R	Microcephaly 4, primary, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31586191.	NM_144508.5(KNL1):c.4393G>T (p.Val1465Leu) GRCh37: Chr15:40916855 GRCh38: Chr15:40624657	KNL1	V1465L, V1491L	Inborn genetic diseases, Microcephaly 4, primary, autosomal recessive	Uncertain significance (Jul 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 31586092.	NM_144508.5(KNL1):c.4000C>T (p.Pro1334Ser) GRCh37: Chr15:40916462 GRCh38: Chr15:40624264	KNL1	P1334S, P1360S	Microcephaly 4, primary, autosomal recessive	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31585993.	NM_144508.5(KNL1):c.3999C>T (p.Cys1333=) GRCh37: Chr15:40916461 GRCh38: Chr15:40624263	KNL1		not provided, Microcephaly 4, primary, autosomal recessive	Conflicting interpretations of pathogenicity (Jan 1, 2022)	criteria provided, conflicting interpretations
Select item 31585894.	NM_144508.5(KNL1):c.3881C>T (p.Ala1294Val) GRCh37: Chr15:40916343 GRCh38: Chr15:40624145	KNL1	A1294V, A1320V	Microcephaly 4, primary, autosomal recessive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31585795.	NM_144508.5(KNL1):c.3573A>G (p.Ile1191Met) GRCh37: Chr15:40916035 GRCh38: Chr15:40623837	KNL1	I1191M, I1217M	Microcephaly 4, primary, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31585696.	NM_144508.5(KNL1):c.2963T>A (p.Val988Glu) GRCh37: Chr15:40915425 GRCh38: Chr15:40623227	KNL1	V1014E, V988E	Microcephaly 4, primary, autosomal recessive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31585497.	NM_144508.5(KNL1):c.2728A>G (p.Arg910Gly) GRCh37: Chr15:40915190 GRCh38: Chr15:40622992	KNL1	R910G, R936G	Primary Microcephaly, Recessive, Microcephaly 4, primary, autosomal recessive	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 31585398.	NM_144508.5(KNL1):c.2634T>C (p.Tyr878=) GRCh37: Chr15:40915096 GRCh38: Chr15:40622898	KNL1		Microcephaly 4, primary, autosomal recessive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31585299.	NM_144508.5(KNL1):c.2323G>T (p.Gly775Cys) GRCh37: Chr15:40914785 GRCh38: Chr15:40622587	KNL1	G775C, G801C	Microcephaly 4, primary, autosomal recessive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 315851100.	NM_144508.5(KNL1):c.2260A>G (p.Ile754Val) GRCh37: Chr15:40914722 GRCh38: Chr15:40622524	KNL1	I780V, I754V	Microcephaly 4, primary, autosomal recessive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter

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