ClinVar for MedGen (Select 462759) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25854691.	NM_000631.5(NCF4):c.614_615del (p.Lys205fs) GRCh37: Chr22:37268453-37268454 GRCh38: Chr22:36872411-36872412	NCF4	K205fs	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely pathogenic	criteria provided, single submitter
Select item 25000632.	NM_000631.5(NCF4):c.619T>C (p.Trp207Arg) GRCh37: Chr22:37268459 GRCh38: Chr22:36872417	NCF4	W207R	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Uncertain significance (Oct 4, 2022)	criteria provided, single submitter
Select item 24216803.	NM_000631.5(NCF4):c.443G>A (p.Arg148His) GRCh37: Chr22:37266557 GRCh38: Chr22:36870515	NCF4	R148H	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 24213114.	NM_000631.5(NCF4):c.446G>A (p.Arg149Gln) GRCh37: Chr22:37266560 GRCh38: Chr22:36870518	NCF4	R149Q	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Uncertain significance (May 19, 2022)	criteria provided, single submitter
Select item 24174215.	NM_000631.5(NCF4):c.301A>G (p.Ile101Val) GRCh37: Chr22:37263463 GRCh38: Chr22:36867421	NCF4, NCF4-AS1	I101V	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Uncertain significance (Dec 25, 2021)	criteria provided, single submitter
Select item 22020426.	NM_000631.5(NCF4):c.759-58C>T GRCh37: Chr22:37272013 GRCh38: Chr22:36875971	NCF4	H316Y	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Uncertain significance (Feb 6, 2022)	criteria provided, single submitter
Select item 21982947.	NM_000631.5(NCF4):c.283G>A (p.Val95Met) GRCh37: Chr22:37263445 GRCh38: Chr22:36867403	NCF4, NCF4-AS1	V95M	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Uncertain significance (Jan 15, 2022)	criteria provided, single submitter
Select item 21963608.	NM_000631.5(NCF4):c.758+57_758+58inv GRCh37: Chr22:37271882-37271883 GRCh38: Chr22:36875840-36875841	NCF4	L272P	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Aug 24, 2022)	criteria provided, single submitter
Select item 21952209.	NM_000631.5(NCF4):c.758+39T>C GRCh37: Chr22:37271864 GRCh38: Chr22:36875822	NCF4	L266P	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Uncertain significance (Jan 21, 2022)	criteria provided, single submitter
Select item 217934810.	NM_000631.5(NCF4):c.659C>T (p.Pro220Leu) GRCh37: Chr22:37271726 GRCh38: Chr22:36875684	NCF4	P220L	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 217114311.	NM_000631.5(NCF4):c.118-6_118-4del GRCh37: Chr22:37260951-37260953 GRCh38: Chr22:36864909-36864911	NCF4, NCF4-AS1		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 216891312.	NM_000631.5(NCF4):c.767C>T (p.Ala256Val) GRCh37: Chr22:37272079 GRCh38: Chr22:36876037	NCF4	R338W, A256V	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 216660813.	NM_000631.5(NCF4):c.489G>A (p.Gln163=) GRCh37: Chr22:37267712 GRCh38: Chr22:36871670	NCF4		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 216441914.	NM_000631.5(NCF4):c.566T>C (p.Leu189Pro) GRCh37: Chr22:37268406 GRCh38: Chr22:36872364	NCF4	L189P	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Uncertain significance (May 16, 2022)	criteria provided, single submitter
Select item 216254515.	NM_000631.5(NCF4):c.617A>G (p.Asp206Gly) GRCh37: Chr22:37268457 GRCh38: Chr22:36872415	NCF4	D206G	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Uncertain significance (Apr 4, 2022)	criteria provided, single submitter
Select item 215368816.	NM_000631.5(NCF4):c.528+18G>A GRCh37: Chr22:37267769 GRCh38: Chr22:36871727	NCF4		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 215162217.	NM_000631.5(NCF4):c.88G>A (p.Glu30Lys) GRCh37: Chr22:37260142 GRCh38: Chr22:36864100	NCF4-AS1, NCF4	E30K	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Uncertain significance (Apr 4, 2022)	criteria provided, single submitter
Select item 214741918.	NM_000631.5(NCF4):c.526G>C (p.Glu176Gln) GRCh37: Chr22:37267749 GRCh38: Chr22:36871707	NCF4	E176Q	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 214657419.	NM_000631.5(NCF4):c.758+117A>G GRCh37: Chr22:37271942 GRCh38: Chr22:36875900	NCF4	Q292R	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 214643420.	NM_000631.5(NCF4):c.758+17G>C GRCh37: Chr22:37271842 GRCh38: Chr22:36875800	NCF4	G259R	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 214378521.	NM_000631.5(NCF4):c.117+14C>G GRCh37: Chr22:37260185 GRCh38: Chr22:36864143	NCF4, NCF4-AS1		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Mar 1, 2022)	criteria provided, single submitter
Select item 213996822.	NM_000631.5(NCF4):c.258G>A (p.Leu86=) GRCh37: Chr22:37261101 GRCh38: Chr22:36865059	NCF4, NCF4-AS1		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Benign (Oct 15, 2022)	criteria provided, single submitter
Select item 213916523.	NM_000631.5(NCF4):c.669C>T (p.Phe223=) GRCh37: Chr22:37271736 GRCh38: Chr22:36875694	NCF4		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 213753924.	NM_000631.5(NCF4):c.51G>T (p.Pro17=) GRCh37: Chr22:37260105 GRCh38: Chr22:36864063	NCF4, NCF4-AS1		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Dec 19, 2021)	criteria provided, single submitter
Select item 213410425.	NM_000631.5(NCF4):c.41A>G (p.Glu14Gly) GRCh37: Chr22:37260095 GRCh38: Chr22:36864053	NCF4, NCF4-AS1	E14G	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Uncertain significance (May 6, 2022)	criteria provided, single submitter
Select item 212843026.	NM_000631.5(NCF4):c.543C>T (p.Phe181=) GRCh37: Chr22:37268383 GRCh38: Chr22:36872341	NCF4		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Apr 20, 2022)	criteria provided, single submitter
Select item 212287527.	NM_000631.5(NCF4):c.330C>A (p.Asn110Lys) GRCh37: Chr22:37263492 GRCh38: Chr22:36867450	NCF4, NCF4-AS1	N110K	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 210974328.	NM_000631.5(NCF4):c.758+48T>C GRCh37: Chr22:37271873 GRCh38: Chr22:36875831	NCF4	L269P	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 209941029.	NM_000631.5(NCF4):c.26C>G (p.Ala9Gly) GRCh37: Chr22:37257239 GRCh38: Chr22:36861197	NCF4, NCF4-AS1	A9G	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 209788930.	NM_000631.5(NCF4):c.758+110G>A GRCh37: Chr22:37271935 GRCh38: Chr22:36875893	NCF4	G290S	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Uncertain significance (Feb 17, 2022)	criteria provided, single submitter
Select item 209504931.	NM_000631.5(NCF4):c.411C>T (p.Pro137=) GRCh37: Chr22:37266525 GRCh38: Chr22:36870483	NCF4		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 209075332.	NM_000631.5(NCF4):c.343-15G>C GRCh37: Chr22:37266442 GRCh38: Chr22:36870400	NCF4, NCF4-AS1		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 208536733.	NM_000631.5(NCF4):c.758+28_758+29insA GRCh37: Chr22:37271853-37271854 GRCh38: Chr22:36875811-36875812	NCF4	P263fs	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Pathogenic (Jan 16, 2022)	criteria provided, single submitter
Select item 207764434.	NM_000631.5(NCF4):c.118-23_118-13del GRCh37: Chr22:37260934-37260944 GRCh38: Chr22:36864892-36864902	NCF4, NCF4-AS1		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Sep 21, 2022)	criteria provided, single submitter
Select item 207691835.	NM_000631.5(NCF4):c.759-43T>C GRCh37: Chr22:37272028 GRCh38: Chr22:36875986	NCF4	F321L	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Uncertain significance (Jan 7, 2022)	criteria provided, single submitter
Select item 206803236.	NM_000631.5(NCF4):c.758+23G>A GRCh37: Chr22:37271848 GRCh38: Chr22:36875806	NCF4	A261T	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 206584837.	NM_000631.5(NCF4):c.342+12C>T GRCh37: Chr22:37263516 GRCh38: Chr22:36867474	NCF4, NCF4-AS1		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 206301238.	NM_000631.5(NCF4):c.101G>C (p.Gly34Ala) GRCh37: Chr22:37260155 GRCh38: Chr22:36864113	NCF4, NCF4-AS1	G34A	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Uncertain significance (Mar 15, 2022)	criteria provided, single submitter
Select item 205742339.	NM_000631.5(NCF4):c.759-121C>T GRCh37: Chr22:37271950 GRCh38: Chr22:36875908	NCF4	H295Y	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 205390640.	NM_000631.5(NCF4):c.578C>G (p.Ala193Gly) GRCh37: Chr22:37268418 GRCh38: Chr22:36872376	NCF4	A193G	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 205318441.	NM_000631.5(NCF4):c.648G>C (p.Thr216=) GRCh37: Chr22:37271715 GRCh38: Chr22:36875673	NCF4		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Jun 4, 2022)	criteria provided, single submitter
Select item 205272042.	NM_000631.5(NCF4):c.470+5G>A GRCh37: Chr22:37266589 GRCh38: Chr22:36870547	NCF4		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Uncertain significance (Dec 22, 2021)	criteria provided, single submitter
Select item 204795943.	NM_000631.5(NCF4):c.759-6C>G GRCh37: Chr22:37272065 GRCh38: Chr22:36876023	NCF4	P333R	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 204350644.	NM_000631.5(NCF4):c.923G>A (p.Arg308Gln) GRCh37: Chr22:37273768 GRCh38: Chr22:36877726	NCF4	R308Q	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 204244045.	NM_000631.5(NCF4):c.793C>T (p.Pro265Ser) GRCh37: Chr22:37272105 GRCh38: Chr22:36876063	NCF4	P265S	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Dec 13, 2021)	criteria provided, single submitter
Select item 204042846.	NM_000631.5(NCF4):c.758+16G>A GRCh37: Chr22:37271841 GRCh38: Chr22:36875799	NCF4		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Dec 12, 2021)	criteria provided, single submitter
Select item 203062947.	NM_000631.5(NCF4):c.758+106C>T GRCh37: Chr22:37271931 GRCh38: Chr22:36875889	NCF4		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 202233648.	NM_000631.5(NCF4):c.271+9C>T GRCh37: Chr22:37261123 GRCh38: Chr22:36865081	NCF4, NCF4-AS1		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Aug 6, 2022)	criteria provided, single submitter
Select item 201188649.	NM_000631.5(NCF4):c.780T>G (p.Asp260Glu) GRCh37: Chr22:37272092 GRCh38: Chr22:36876050	NCF4	D260E, I342S	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Uncertain significance (Jun 30, 2022)	criteria provided, single submitter
Select item 200538550.	NM_000631.5(NCF4):c.758+34C>T GRCh37: Chr22:37271859 GRCh38: Chr22:36875817	NCF4		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 200152651.	NM_000631.5(NCF4):c.759-20C>G GRCh37: Chr22:37272051 GRCh38: Chr22:36876009	NCF4		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (May 31, 2022)	criteria provided, single submitter
Select item 199632452.	NM_000631.5(NCF4):c.758+84C>G GRCh37: Chr22:37271909 GRCh38: Chr22:36875867	NCF4	S281C	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Uncertain significance (May 19, 2022)	criteria provided, single submitter
Select item 199103553.	NM_000631.5(NCF4):c.759-19C>T GRCh37: Chr22:37272052 GRCh38: Chr22:36876010	NCF4	Q329*	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Pathogenic (Oct 25, 2022)	criteria provided, single submitter
Select item 198932154.	NM_000631.5(NCF4):c.759-88T>C GRCh37: Chr22:37271983 GRCh38: Chr22:36875941	NCF4	W306R	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 198377455.	NM_000631.5(NCF4):c.621G>T (p.Trp207Cys) GRCh37: Chr22:37268461 GRCh38: Chr22:36872419	NCF4	W207C	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 196410256.	NM_000631.5(NCF4):c.69G>T (p.Ser23=) GRCh37: Chr22:37260123 GRCh38: Chr22:36864081	NCF4, NCF4-AS1		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Sep 30, 2022)	criteria provided, single submitter
Select item 196208257.	NM_000631.5(NCF4):c.759-20C>A GRCh37: Chr22:37272051 GRCh38: Chr22:36876009	NCF4		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 196026158.	NM_000631.5(NCF4):c.444C>A (p.Arg148=) GRCh37: Chr22:37266558 GRCh38: Chr22:36870516	NCF4		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Mar 19, 2022)	criteria provided, single submitter
Select item 195829859.	NM_000631.5(NCF4):c.279C>T (p.Val93=) GRCh37: Chr22:37263441 GRCh38: Chr22:36867399	NCF4, NCF4-AS1		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Sep 21, 2022)	criteria provided, single submitter
Select item 194912260.	NM_000631.5(NCF4):c.307G>A (p.Glu103Lys) GRCh37: Chr22:37263469 GRCh38: Chr22:36867427	NCF4, NCF4-AS1	E103K	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Uncertain significance (Dec 20, 2021)	criteria provided, single submitter
Select item 193580461.	NM_000631.5(NCF4):c.107C>T (p.Thr36Ile) GRCh37: Chr22:37260161 GRCh38: Chr22:36864119	NCF4, NCF4-AS1	T36I	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 193325662.	NM_000631.5(NCF4):c.256del (p.Leu86fs) GRCh37: Chr22:37261097 GRCh38: Chr22:36865055	NCF4, NCF4-AS1	L86fs	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Pathogenic (Sep 13, 2022)	criteria provided, single submitter
Select item 191865763.	NM_000631.5(NCF4):c.508A>G (p.Met170Val) GRCh37: Chr22:37267731 GRCh38: Chr22:36871689	NCF4	M170V	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Uncertain significance (Jul 27, 2022)	criteria provided, single submitter
Select item 190767564.	NM_000631.5(NCF4):c.271+16C>T GRCh37: Chr22:37261130 GRCh38: Chr22:36865088	NCF4, NCF4-AS1		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 189970865.	NM_000631.5(NCF4):c.260C>T (p.Pro87Leu) GRCh37: Chr22:37261103 GRCh38: Chr22:36865061	NCF4, NCF4-AS1	P87L	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Uncertain significance (Jan 18, 2022)	criteria provided, single submitter
Select item 171622066.	NM_000631.5(NCF4):c.759-67C>T GRCh37: Chr22:37272004 GRCh38: Chr22:36875962	NCF4	P313S	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 169591467.	NM_000631.5(NCF4):c.908T>G (p.Val303Gly) GRCh37: Chr22:37273753 GRCh38: Chr22:36877711	NCF4	V303G	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Uncertain significance	criteria provided, single submitter
Select item 167150668.	NM_000631.5(NCF4):c.32+20C>T GRCh37: Chr22:37257265 GRCh38: Chr22:36861223	NCF4, NCF4-AS1		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 166311569.	NM_000631.5(NCF4):c.759-101T>C GRCh37: Chr22:37271970 GRCh38: Chr22:36875928	NCF4		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (May 31, 2021)	criteria provided, single submitter
Select item 165412170.	NM_000631.5(NCF4):c.303C>T (p.Ile101=) GRCh37: Chr22:37263465 GRCh38: Chr22:36867423	NCF4-AS1, NCF4		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 165159671.	NM_000631.5(NCF4):c.228C>T (p.Asp76=) GRCh37: Chr22:37261071 GRCh38: Chr22:36865029	NCF4, NCF4-AS1		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 165000772.	NM_000631.5(NCF4):c.528+9C>T GRCh37: Chr22:37267760 GRCh38: Chr22:36871718	NCF4		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Nov 11, 2020)	criteria provided, single submitter
Select item 164292173.	NM_000631.5(NCF4):c.90G>A (p.Glu30=) GRCh37: Chr22:37260144 GRCh38: Chr22:36864102	NCF4, NCF4-AS1		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 164039774.	NM_000631.5(NCF4):c.118-8C>T GRCh37: Chr22:37260953 GRCh38: Chr22:36864911	NCF4, NCF4-AS1		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Aug 14, 2021)	criteria provided, single submitter
Select item 163395975.	NM_000631.5(NCF4):c.758+70A>G GRCh37: Chr22:37271895 GRCh38: Chr22:36875853	NCF4		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Jan 2, 2021)	criteria provided, single submitter
Select item 163356576.	NM_000631.5(NCF4):c.117+19C>T GRCh37: Chr22:37260190 GRCh38: Chr22:36864148	NCF4, NCF4-AS1		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 163192977.	NM_000631.5(NCF4):c.758+85C>G GRCh37: Chr22:37271910 GRCh38: Chr22:36875868	NCF4		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Mar 7, 2022)	criteria provided, single submitter
Select item 162921478.	NM_000631.5(NCF4):c.267C>A (p.Leu89=) GRCh37: Chr22:37261110 GRCh38: Chr22:36865068	NCF4, NCF4-AS1		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Aug 26, 2022)	criteria provided, single submitter
Select item 162022879.	NM_000631.5(NCF4):c.117+20C>T GRCh37: Chr22:37260191 GRCh38: Chr22:36864149	NCF4, NCF4-AS1		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Dec 3, 2021)	criteria provided, single submitter
Select item 161494780.	NM_000631.5(NCF4):c.272-14_272-13del GRCh37: Chr22:37263419-37263420 GRCh38: Chr22:36867377-36867378	NCF4, NCF4-AS1		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 161057281.	NM_000631.5(NCF4):c.627+15G>C GRCh37: Chr22:37268482 GRCh38: Chr22:36872440	NCF4		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 160611082.	NM_000631.5(NCF4):c.758+38C>T GRCh37: Chr22:37271863 GRCh38: Chr22:36875821	NCF4		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 159510083.	NM_000631.5(NCF4):c.57T>C (p.Asp19=) GRCh37: Chr22:37260111 GRCh38: Chr22:36864069	NCF4, NCF4-AS1		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Sep 15, 2021)	criteria provided, single submitter
Select item 159154784.	NM_000631.5(NCF4):c.648G>A (p.Thr216=) GRCh37: Chr22:37271715 GRCh38: Chr22:36875673	NCF4		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 158914185.	NM_000631.5(NCF4):c.118-16C>T GRCh37: Chr22:37260945 GRCh38: Chr22:36864903	NCF4, NCF4-AS1		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Nov 30, 2021)	criteria provided, single submitter
Select item 158500786.	NM_000631.5(NCF4):c.758+46C>T GRCh37: Chr22:37271871 GRCh38: Chr22:36875829	NCF4		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Mar 19, 2022)	criteria provided, single submitter
Select item 158293287.	NM_000631.5(NCF4):c.529-13C>T GRCh37: Chr22:37268356 GRCh38: Chr22:36872314	NCF4		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Sep 10, 2021)	criteria provided, single submitter
Select item 158103988.	NM_000631.5(NCF4):c.759-25T>C GRCh37: Chr22:37272046 GRCh38: Chr22:36876004	NCF4		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 157851889.	NM_000631.5(NCF4):c.32+10G>A GRCh37: Chr22:37257255 GRCh38: Chr22:36861213	NCF4, NCF4-AS1		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Aug 29, 2021)	criteria provided, single submitter
Select item 157695990.	NM_000631.5(NCF4):c.272-19G>A GRCh37: Chr22:37263415 GRCh38: Chr22:36867373	NCF4-AS1, NCF4		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Aug 9, 2021)	criteria provided, single submitter
Select item 157516491.	NM_000631.5(NCF4):c.471-9T>C GRCh37: Chr22:37267685 GRCh38: Chr22:36871643	NCF4		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 157432892.	NM_000631.5(NCF4):c.343-13C>G GRCh37: Chr22:37266444 GRCh38: Chr22:36870402	NCF4, NCF4-AS1		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Jun 19, 2022)	criteria provided, single submitter
Select item 156128093.	NM_000631.5(NCF4):c.528+15_528+16inv GRCh37: Chr22:37267766-37267767 GRCh38: Chr22:36871724-36871725	NCF4		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 156051194.	NM_000631.5(NCF4):c.271+17G>A GRCh37: Chr22:37261131 GRCh38: Chr22:36865089	NCF4, NCF4-AS1		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Jul 27, 2022)	criteria provided, single submitter
Select item 155795795.	NM_000631.5(NCF4):c.272-7_272-6del GRCh37: Chr22:37263427-37263428 GRCh38: Chr22:36867385-36867386	NCF4, NCF4-AS1		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Jul 12, 2021)	criteria provided, single submitter
Select item 154027296.	NM_000631.5(NCF4):c.282C>T (p.Tyr94=) GRCh37: Chr22:37263444 GRCh38: Chr22:36867402	NCF4, NCF4-AS1		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 153784197.	NM_000631.5(NCF4):c.118-11G>A GRCh37: Chr22:37260950 GRCh38: Chr22:36864908	NCF4, NCF4-AS1		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 153591298.	NM_000631.5(NCF4):c.429G>T (p.Val143=) GRCh37: Chr22:37266543 GRCh38: Chr22:36870501	NCF4		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 152844999.	NM_000631.5(NCF4):c.528+11C>A GRCh37: Chr22:37267762 GRCh38: Chr22:36871720	NCF4		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 1522216100.	NM_000631.5(NCF4):c.87C>A (p.Ile29=) GRCh37: Chr22:37260141 GRCh38: Chr22:36864099	NCF4, NCF4-AS1		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Jul 11, 2022)	criteria provided, single submitter

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