ClinVar for MedGen (Select 383869) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 1 to 100 of 349

<< First< Prev

Page of 4

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24340761.	NM_000433.4(NCF2):c.944C>A (p.Ser315Tyr) GRCh37: Chr1:183534895 GRCh38: Chr1:183565760	NCF2	S234Y, S270Y, S279Y, S315Y	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Uncertain significance (Jul 24, 2020)	criteria provided, single submitter
Select item 24230862.	NC_000001.10:g.(?_183546714)_(183559464_?)dup GRCh37: Chr1:183546714-183559464	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Uncertain significance (Oct 24, 2021)	criteria provided, single submitter
Select item 24230853.	NC_000001.10:g.(?_183542300)_(183542447_?)del GRCh37: Chr1:183542300-183542447	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Pathogenic (Nov 13, 2021)	criteria provided, single submitter
Select item 22028954.	NM_000433.4(NCF2):c.172_174del (p.Lys58del) GRCh37: Chr1:183559291-183559293 GRCh38: Chr1:183590156-183590158	NCF2	K58del	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 22028945.	NM_000433.4(NCF2):c.574C>T (p.Gln192Ter) GRCh37: Chr1:183542355 GRCh38: Chr1:183573220	NCF2	Q147, Q192	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Pathogenic (Oct 20, 2022)	criteria provided, single submitter
Select item 22028936.	NM_000433.4(NCF2):c.728del (p.Glu243fs) GRCh37: Chr1:183536466 GRCh38: Chr1:183567331	NCF2	E198fs, E243fs, E162fs	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Pathogenic (Feb 10, 2022)	criteria provided, single submitter
Select item 22016467.	NM_000433.4(NCF2):c.855+20_855+23del GRCh37: Chr1:183536316-183536319 GRCh38: Chr1:183567181-183567184	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Mar 30, 2022)	criteria provided, single submitter
Select item 22012798.	NM_000433.4(NCF2):c.958C>G (p.Pro320Ala) GRCh37: Chr1:183534881 GRCh38: Chr1:183565746	NCF2	P275A, P284A, P239A, P320A	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Uncertain significance (Jun 19, 2022)	criteria provided, single submitter
Select item 21968389.	NM_000433.4(NCF2):c.1501G>A (p.Gly501Arg) GRCh37: Chr1:183525333 GRCh38: Chr1:183556198	NCF2	G465R, G420R, G456R, G501R	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Uncertain significance (Jun 19, 2022)	criteria provided, single submitter
Select item 217246010.	NM_000433.4(NCF2):c.608C>T (p.Thr203Met) GRCh37: Chr1:183542321 GRCh38: Chr1:183573186	NCF2	T203M, T158M	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 216474811.	NM_000433.4(NCF2):c.1168A>G (p.Thr390Ala) GRCh37: Chr1:183532579 GRCh38: Chr1:183563444	NCF2	T345A, T354A, T309A, T390A	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 216403512.	NM_000433.4(NCF2):c.930A>T (p.Glu310Asp) GRCh37: Chr1:183534909 GRCh38: Chr1:183565774	NCF2	E310D, E229D, E265D, E274D	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Uncertain significance (May 17, 2022)	criteria provided, single submitter
Select item 216093813.	NM_000433.4(NCF2):c.1104C>T (p.Pro368=) GRCh37: Chr1:183532643 GRCh38: Chr1:183563508	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 215722214.	NM_000433.4(NCF2):c.4T>G (p.Ser2Ala) GRCh37: Chr1:183559461 GRCh38: Chr1:183590326	NCF2	S2A	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 215601215.	NM_000433.4(NCF2):c.1000+8G>A GRCh37: Chr1:183534831 GRCh38: Chr1:183565696	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Jul 20, 2022)	criteria provided, single submitter
Select item 215190716.	NM_000433.4(NCF2):c.485C>T (p.Ala162Val) GRCh37: Chr1:183543638 GRCh38: Chr1:183574503	NCF2	A162V	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Uncertain significance (Oct 14, 2022)	criteria provided, single submitter
Select item 215161117.	NM_000433.4(NCF2):c.1027-6A>C GRCh37: Chr1:183532726 GRCh38: Chr1:183563591	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 214986118.	NM_000433.4(NCF2):c.259T>A (p.Tyr87Asn) GRCh37: Chr1:183546841 GRCh38: Chr1:183577706	NCF2	Y87N	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 213161719.	NM_000433.4(NCF2):c.502-18A>G GRCh37: Chr1:183542445 GRCh38: Chr1:183573310	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Apr 29, 2022)	criteria provided, single submitter
Select item 212656220.	NM_000433.4(NCF2):c.338G>A (p.Gly113Glu) GRCh37: Chr1:183546762 GRCh38: Chr1:183577627	NCF2	G113E	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 212301721.	NM_000433.4(NCF2):c.1437G>T (p.Gln479His) GRCh37: Chr1:183529262 GRCh38: Chr1:183560127	NCF2	Q434H, Q398H, Q479H, Q443H	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 210970122.	NM_000433.4(NCF2):c.855+10G>C GRCh37: Chr1:183536329 GRCh38: Chr1:183567194	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Mar 12, 2022)	criteria provided, single submitter
Select item 209942723.	NM_000433.4(NCF2):c.1065G>C (p.Lys355Asn) GRCh37: Chr1:183532682 GRCh38: Chr1:183563547	NCF2	K319N, K274N, K310N, K355N	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 209731824.	NM_000433.4(NCF2):c.609+13G>A GRCh37: Chr1:183542307 GRCh38: Chr1:183573172	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 209654625.	NM_000433.4(NCF2):c.925-16_925-14del GRCh37: Chr1:183534928-183534930 GRCh38: Chr1:183565793-183565795	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Feb 11, 2022)	criteria provided, single submitter
Select item 209210726.	NM_000433.4(NCF2):c.756G>C (p.Val252=) GRCh37: Chr1:183536438 GRCh38: Chr1:183567303	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Feb 2, 2022)	criteria provided, single submitter
Select item 208829327.	NM_000433.4(NCF2):c.1520C>G (p.Pro507Arg) GRCh37: Chr1:183525314 GRCh38: Chr1:183556179	NCF2	P426R, P471R, P462R, P507R	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Uncertain significance (Jan 20, 2022)	criteria provided, single submitter
Select item 208230328.	NM_000433.4(NCF2):c.101A>G (p.Asp34Gly) GRCh37: Chr1:183559364 GRCh38: Chr1:183590229	NCF2	D34G	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 207043329.	NM_000433.4(NCF2):c.566A>G (p.Gln189Arg) GRCh37: Chr1:183542363 GRCh38: Chr1:183573228	NCF2	Q189R, Q144R	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Uncertain significance (Feb 21, 2022)	criteria provided, single submitter
Select item 206056030.	NM_000433.4(NCF2):c.921C>T (p.Pro307=) GRCh37: Chr1:183536058 GRCh38: Chr1:183566923	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 205674131.	NM_000433.4(NCF2):c.1234G>A (p.Asp412Asn) GRCh37: Chr1:183532386 GRCh38: Chr1:183563251	NCF2	D367N, D331N, D376N, D412N	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 203915832.	NM_000433.4(NCF2):c.855+15A>G GRCh37: Chr1:183536324 GRCh38: Chr1:183567189	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Jun 24, 2022)	criteria provided, single submitter
Select item 203536033.	NM_000433.4(NCF2):c.544C>T (p.Leu182=) GRCh37: Chr1:183542385 GRCh38: Chr1:183573250	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 203150934.	NM_000433.4(NCF2):c.1491G>A (p.Gly497=) GRCh37: Chr1:183525343 GRCh38: Chr1:183556208	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Uncertain significance (Sep 20, 2022)	criteria provided, single submitter
Select item 203052335.	NM_000433.4(NCF2):c.1468+19C>T GRCh37: Chr1:183529212 GRCh38: Chr1:183560077	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 202736636.	NM_000433.4(NCF2):c.495T>C (p.Cys165=) GRCh37: Chr1:183543628 GRCh38: Chr1:183574493	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Aug 27, 2022)	criteria provided, single submitter
Select item 202241737.	NM_000433.4(NCF2):c.222C>T (p.Tyr74=) GRCh37: Chr1:183556065 GRCh38: Chr1:183586930	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 201929638.	NM_000433.4(NCF2):c.999A>G (p.Pro333=) GRCh37: Chr1:183534840 GRCh38: Chr1:183565705	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 201909039.	NM_000433.4(NCF2):c.780G>A (p.Gln260=) GRCh37: Chr1:183536414 GRCh38: Chr1:183567279	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Apr 15, 2022)	criteria provided, single submitter
Select item 201033840.	NM_000433.4(NCF2):c.488T>C (p.Met163Thr) GRCh37: Chr1:183543635 GRCh38: Chr1:183574500	NCF2	M163T	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Uncertain significance (Jul 22, 2022)	criteria provided, single submitter
Select item 200694141.	NM_000433.4(NCF2):c.394G>C (p.Ala132Pro) GRCh37: Chr1:183543729 GRCh38: Chr1:183574594	NCF2	A132P	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 200573442.	NM_000433.4(NCF2):c.1550C>T (p.Thr517Ile) GRCh37: Chr1:183525284 GRCh38: Chr1:183556149	NCF2	T517I, T436I, T481I, T472I	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 200069443.	NM_000433.4(NCF2):c.259T>C (p.Tyr87His) GRCh37: Chr1:183546841 GRCh38: Chr1:183577706	NCF2	Y87H	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 199281044.	NM_000433.4(NCF2):c.596T>A (p.Leu199Gln) GRCh37: Chr1:183542333 GRCh38: Chr1:183573198	NCF2	L199Q, L154Q	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Uncertain significance (May 10, 2022)	criteria provided, single submitter
Select item 199258545.	NM_000433.4(NCF2):c.964A>G (p.Ser322Gly) GRCh37: Chr1:183534875 GRCh38: Chr1:183565740	NCF2	S241G, S277G, S322G, S286G	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Uncertain significance (May 10, 2022)	criteria provided, single submitter
Select item 198680546.	NM_000433.4(NCF2):c.1284C>T (p.Asn428=) GRCh37: Chr1:183532336 GRCh38: Chr1:183563201	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 198158647.	NM_000433.4(NCF2):c.759T>C (p.Pro253=) GRCh37: Chr1:183536435 GRCh38: Chr1:183567300	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Aug 13, 2022)	criteria provided, single submitter
Select item 197947948.	NM_000433.4(NCF2):c.68A>T (p.Lys23Met) GRCh37: Chr1:183559397 GRCh38: Chr1:183590262	NCF2	K23M	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 197661249.	NM_000433.4(NCF2):c.360C>A (p.Ala120=) GRCh37: Chr1:183546740 GRCh38: Chr1:183577605	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Jul 3, 2022)	criteria provided, single submitter
Select item 197475550.	NM_000433.4(NCF2):c.501+4A>G GRCh37: Chr1:183543618 GRCh38: Chr1:183574483	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 197136851.	NM_000433.4(NCF2):c.1468+12T>A GRCh37: Chr1:183529219 GRCh38: Chr1:183560084	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Jul 18, 2022)	criteria provided, single submitter
Select item 196987452.	NM_000433.4(NCF2):c.714-11A>G GRCh37: Chr1:183536491 GRCh38: Chr1:183567356	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Jan 21, 2022)	criteria provided, single submitter
Select item 195501653.	NM_000433.4(NCF2):c.502-12T>C GRCh37: Chr1:183542439 GRCh38: Chr1:183573304	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (May 15, 2022)	criteria provided, single submitter
Select item 195279654.	NM_000433.4(NCF2):c.65G>A (p.Trp22Ter) GRCh37: Chr1:183559400 GRCh38: Chr1:183590265	NCF2	W22*	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Pathogenic (Aug 24, 2022)	criteria provided, single submitter
Select item 195158855.	NM_000433.4(NCF2):c.1212C>T (p.Pro404=) GRCh37: Chr1:183532408 GRCh38: Chr1:183563273	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 194585656.	NM_000433.4(NCF2):c.1029A>G (p.Glu343=) GRCh37: Chr1:183532718 GRCh38: Chr1:183563583	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Sep 10, 2022)	criteria provided, single submitter
Select item 194148257.	NM_000433.4(NCF2):c.129_130delinsCT (p.Gly44Cys) GRCh37: Chr1:183559335-183559336 GRCh38: Chr1:183590200-183590201	NCF2	G44C	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 193259858.	NM_000433.4(NCF2):c.714-17G>C GRCh37: Chr1:183536497 GRCh38: Chr1:183567362	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Dec 24, 2021)	criteria provided, single submitter
Select item 192592259.	NM_000433.4(NCF2):c.1190G>A (p.Arg397Gln) GRCh37: Chr1:183532430 GRCh38: Chr1:183563295	NCF2	R352Q, R316Q, R361Q, R397Q	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 192507960.	NM_000433.4(NCF2):c.715G>A (p.Ala239Thr) GRCh37: Chr1:183536479 GRCh38: Chr1:183567344	NCF2	A158T, A194T, A203T, A239T	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Uncertain significance (May 21, 2022)	criteria provided, single submitter
Select item 190591661.	NM_000433.4(NCF2):c.1523_1524del (p.Lys508fs) GRCh37: Chr1:183525310-183525311 GRCh38: Chr1:183556175-183556176	NCF2	K508fs, K427fs, K463fs	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Uncertain significance (May 6, 2022)	criteria provided, single submitter
Select item 190380162.	NM_000433.4(NCF2):c.173A>G (p.Lys58Arg) GRCh37: Chr1:183559292 GRCh38: Chr1:183590157	NCF2	K58R	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 167539863.	NM_000433.4(NCF2):c.1224C>T (p.Asp408=) GRCh37: Chr1:183532396 GRCh38: Chr1:183563261	NCF2		not provided, Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Feb 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167010564.	NM_000433.4(NCF2):c.855+8G>A GRCh37: Chr1:183536331 GRCh38: Chr1:183567196	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Mar 13, 2022)	criteria provided, single submitter
Select item 166474365.	NM_000433.4(NCF2):c.501+19C>G GRCh37: Chr1:183543603 GRCh38: Chr1:183574468	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Jun 11, 2022)	criteria provided, single submitter
Select item 166422466.	NM_000433.4(NCF2):c.849C>T (p.Asn283=) GRCh37: Chr1:183536345 GRCh38: Chr1:183567210	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Oct 13, 2021)	criteria provided, single submitter
Select item 166363267.	NM_000433.4(NCF2):c.1026+12C>T GRCh37: Chr1:183533128 GRCh38: Chr1:183563993	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Nov 1, 2021)	criteria provided, single submitter
Select item 166215768.	NM_000433.4(NCF2):c.1257C>T (p.Asn419=) GRCh37: Chr1:183532363 GRCh38: Chr1:183563228	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Nov 13, 2021)	criteria provided, single submitter
Select item 166088569.	NM_000433.4(NCF2):c.258-9G>C GRCh37: Chr1:183546851 GRCh38: Chr1:183577716	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Dec 11, 2020)	criteria provided, single submitter
Select item 165909870.	NM_000433.4(NCF2):c.1290+15G>A GRCh37: Chr1:183532315 GRCh38: Chr1:183563180	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Aug 16, 2021)	criteria provided, single submitter
Select item 165651471.	NM_000433.4(NCF2):c.834C>A (p.Ala278=) GRCh37: Chr1:183536360 GRCh38: Chr1:183567225	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Nov 27, 2020)	criteria provided, single submitter
Select item 165269772.	NM_000433.4(NCF2):c.1000+13G>A GRCh37: Chr1:183534826 GRCh38: Chr1:183565691	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Jun 10, 2021)	criteria provided, single submitter
Select item 165001373.	NM_000433.4(NCF2):c.1515T>C (p.Ile505=) GRCh37: Chr1:183525319 GRCh38: Chr1:183556184	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Nov 11, 2020)	criteria provided, single submitter
Select item 164486774.	NM_000433.4(NCF2):c.348C>T (p.Phe116=) GRCh37: Chr1:183546752 GRCh38: Chr1:183577617	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 164310975.	NM_000433.4(NCF2):c.1062C>T (p.Leu354=) GRCh37: Chr1:183532685 GRCh38: Chr1:183563550	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Mar 26, 2021)	criteria provided, single submitter
Select item 163934676.	NM_000433.4(NCF2):c.595C>T (p.Leu199=) GRCh37: Chr1:183542334 GRCh38: Chr1:183573199	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Mar 13, 2021)	criteria provided, single submitter
Select item 163858077.	NM_000433.4(NCF2):c.1206G>A (p.Leu402=) GRCh37: Chr1:183532414 GRCh38: Chr1:183563279	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Mar 10, 2021)	criteria provided, single submitter
Select item 163686678.	NM_000433.4(NCF2):c.925-19C>T GRCh37: Chr1:183534933 GRCh38: Chr1:183565798	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 163634579.	NM_000433.4(NCF2):c.175-13C>T GRCh37: Chr1:183556125 GRCh38: Chr1:183586990	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Benign (Nov 1, 2022)	criteria provided, single submitter
Select item 163388180.	NM_000433.4(NCF2):c.856-18T>C GRCh37: Chr1:183536141 GRCh38: Chr1:183567006	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Feb 15, 2021)	criteria provided, single submitter
Select item 162865481.	NM_000433.4(NCF2):c.1178+20C>T GRCh37: Chr1:183532549 GRCh38: Chr1:183563414	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Nov 14, 2020)	criteria provided, single submitter
Select item 162735082.	NM_000433.4(NCF2):c.501+20A>G GRCh37: Chr1:183543602 GRCh38: Chr1:183574467	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Jul 22, 2021)	criteria provided, single submitter
Select item 162556883.	NM_000433.4(NCF2):c.367-17_367-16delinsAA GRCh37: Chr1:183543772-183543773 GRCh38: Chr1:183574637-183574638	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 161106984.	NM_000433.4(NCF2):c.925-6C>T GRCh37: Chr1:183534920 GRCh38: Chr1:183565785	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Oct 15, 2021)	criteria provided, single submitter
Select item 160387385.	NM_000433.4(NCF2):c.175-9T>C GRCh37: Chr1:183556121 GRCh38: Chr1:183586986	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 159857486.	NM_000433.4(NCF2):c.367-18C>T GRCh37: Chr1:183543774 GRCh38: Chr1:183574639	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Benign (Nov 3, 2022)	criteria provided, single submitter
Select item 159301687.	NM_000433.4(NCF2):c.502-16G>A GRCh37: Chr1:183542443 GRCh38: Chr1:183573308	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (May 19, 2021)	criteria provided, single submitter
Select item 158426888.	NM_000433.4(NCF2):c.924+20T>C GRCh37: Chr1:183536035 GRCh38: Chr1:183566900	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Aug 24, 2021)	criteria provided, single submitter
Select item 157345589.	NM_000433.4(NCF2):c.174+20T>G GRCh37: Chr1:183559271 GRCh38: Chr1:183590136	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 156932390.	NM_000433.4(NCF2):c.1074C>T (p.Tyr358=) GRCh37: Chr1:183532673 GRCh38: Chr1:183563538	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 156713291.	NM_000433.4(NCF2):c.1254A>G (p.Lys418=) GRCh37: Chr1:183532366 GRCh38: Chr1:183563231	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Jun 18, 2021)	criteria provided, single submitter
Select item 156476692.	NM_000433.4(NCF2):c.502-17C>G GRCh37: Chr1:183542444 GRCh38: Chr1:183573309	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Jul 29, 2021)	criteria provided, single submitter
Select item 156214393.	NM_000433.4(NCF2):c.945C>T (p.Ser315=) GRCh37: Chr1:183534894 GRCh38: Chr1:183565759	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Oct 16, 2022)	criteria provided, single submitter
Select item 156178794.	NM_000433.4(NCF2):c.330G>A (p.Lys110=) GRCh37: Chr1:183546770 GRCh38: Chr1:183577635	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Feb 3, 2022)	criteria provided, single submitter
Select item 156004495.	NM_000433.4(NCF2):c.502-17C>T GRCh37: Chr1:183542444 GRCh38: Chr1:183573309	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (May 25, 2022)	criteria provided, single submitter
Select item 155831496.	NM_000433.4(NCF2):c.855+20del GRCh37: Chr1:183536319 GRCh38: Chr1:183567184	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 154035797.	NM_000433.4(NCF2):c.856-16T>C GRCh37: Chr1:183536139 GRCh38: Chr1:183567004	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Feb 9, 2022)	criteria provided, single submitter
Select item 154034998.	NM_000433.4(NCF2):c.174+16T>C GRCh37: Chr1:183559275 GRCh38: Chr1:183590140	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Aug 29, 2021)	criteria provided, single submitter
Select item 153970199.	NM_000433.4(NCF2):c.1290+16G>A GRCh37: Chr1:183532314 GRCh38: Chr1:183563179	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 1533516100.	NM_000433.4(NCF2):c.367-17G>A GRCh37: Chr1:183543773 GRCh38: Chr1:183574638	NCF2		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Benign (Oct 30, 2022)	criteria provided, single submitter

<< First< Prev

Page of 4