NCF4[gene] and "single gene"[properties] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 207

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 730733	NM_000631.5(NCF4):c.384C>T (p.Asp128=)	NCF4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 570297	NM_000631.5(NCF4):c.388C>T (p.Arg130Trp)	NCF4 (R130W)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 1091397	NM_000631.5(NCF4):c.390G>A (p.Arg130=)	NCF4	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 581849	NM_000631.5(NCF4):c.397T>C (p.Phe133Leu)	NCF4 (F133L)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 1325525	NM_000631.5(NCF4):c.407C>T (p.Ser136Leu)	NCF4 (S136L)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 3015840	NM_000631.5(NCF4):c.408G>A (p.Ser136=)	NCF4	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 1384830	NM_000631.5(NCF4):c.409C>T (p.Pro137Ser)	NCF4 (P137S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2095049	NM_000631.5(NCF4):c.411C>T (p.Pro137=)	NCF4	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 1463119	NM_000631.5(NCF4):c.421G>C (p.Glu141Gln)	NCF4 (E141Q)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 1535912	NM_000631.5(NCF4):c.429G>T (p.Val143=)	NCF4	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 2632976	NM_000631.5(NCF4):c.446_454del (p.Arg149_Arg151del)	NCF4	Deletion (inframe_deletion +1 more)	NCF4-related disorder	GUncertain significance
Select item 1377360	NM_000631.5(NCF4):c.442C>T (p.Arg148Cys)	NCF4 (R148C)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 2421680	NM_000631.5(NCF4):c.443G>A (p.Arg148His)	NCF4 (R148H)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 1960261	NM_000631.5(NCF4):c.444C>A (p.Arg148=)	NCF4	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 2421311	NM_000631.5(NCF4):c.446G>A (p.Arg149Gln)	NCF4 (R149Q)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 839355	NM_000631.5(NCF4):c.451C>T (p.Arg151Cys)	NCF4 (R151C)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 2828193	NM_000631.5(NCF4):c.456del (p.Arg153fs)	NCF4 (R153fs)	Deletion (frameshift variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GPathogenic
Select item 1130805	NM_000631.5(NCF4):c.456G>T (p.Pro152=)	NCF4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 539181	NM_000631.5(NCF4):c.456G>A (p.Pro152=)	NCF4	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 1353853	NM_000631.5(NCF4):c.457C>T (p.Arg153Cys)	NCF4 (R153C)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 660663	NM_000631.5(NCF4):c.458G>A (p.Arg153His)	NCF4 (R153H)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 3016628	NM_000631.5(NCF4):c.459C>T (p.Arg153=)	NCF4	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 574446	NM_000631.5(NCF4):c.463C>G (p.Arg155Gly)	NCF4 (R155G)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 539174	NM_000631.5(NCF4):c.463C>A (p.Arg155=)	NCF4	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 1476588	NM_000631.5(NCF4):c.464G>A (p.Arg155Gln)	NCF4 (R155Q)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 2052720	NM_000631.5(NCF4):c.470+5G>A	NCF4	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 1134934	NM_000631.5(NCF4):c.470+7G>T	NCF4	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 1165770	NM_000631.5(NCF4):c.470+20G>C	NCF4	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 +1 more	GBenign
Select item 1224865	NM_000631.5(NCF4):c.470+297G>A	NCF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286418	NM_000631.5(NCF4):c.471-267C>T	NCF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2998996	NM_000631.5(NCF4):c.471-17del	NCF4	Deletion (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GBenign
Select item 1575164	NM_000631.5(NCF4):c.471-9T>C	NCF4	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 2504047	NM_000631.5(NCF4):c.471-1G>A	NCF4	Single nucleotide variant (splice acceptor variant)	Chronic granulomatous disease	GLikely pathogenic
Select item 653947	NM_000631.5(NCF4):c.477C>T (p.Ser159=)	NCF4	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 341554	NM_000631.5(NCF4):c.478G>A (p.Val160Met)	NCF4 (V160M)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1000083	NM_000631.5(NCF4):c.485C>T (p.Pro162Leu)	NCF4 (P162L)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 2166608	NM_000631.5(NCF4):c.489G>A (p.Gln163=)	NCF4	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 2536972	NM_000631.5(NCF4):c.497G>T (p.Ser166Ile)	NCF4 (S166I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2912207	NM_000631.5(NCF4):c.498C>T (p.Ser166=)	NCF4	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 837549	NM_000631.5(NCF4):c.499G>A (p.Val167Ile)	NCF4 (V167I)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 660982	NM_000631.5(NCF4):c.504C>A (p.Asp168Glu)	NCF4 (D168E)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 1398054	NM_000631.5(NCF4):c.505C>T (p.Arg169Cys)	NCF4 (R169C)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 846603	NM_000631.5(NCF4):c.506G>A (p.Arg169His)	NCF4 (R169H)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 1918657	NM_000631.5(NCF4):c.508A>G (p.Met170Val)	NCF4 (M170V)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 650303	NM_000631.5(NCF4):c.518C>T (p.Pro173Leu)	NCF4 (P173L)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 2838902	NM_000631.5(NCF4):c.522A>C (p.Arg174Ser)	NCF4 (R174S)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 2147419	NM_000631.5(NCF4):c.526G>C (p.Glu176Gln)	NCF4 (E176Q)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 756854	NM_000631.5(NCF4):c.528+7C>T	NCF4	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 1650007	NM_000631.5(NCF4):c.528+9C>T	NCF4	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 1097113	NM_000631.5(NCF4):c.528+10G>A	NCF4	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 1528449	NM_000631.5(NCF4):c.528+11C>A	NCF4	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 1561280	NM_000631.5(NCF4):c.528+15_528+16inv	NCF4	Inversion (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 198201	NM_000631.5(NCF4):c.528+16A>G	NCF4	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1168917	NM_000631.5(NCF4):c.528+17C>A	NCF4	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 +1 more	GBenign
Select item 2153688	NM_000631.5(NCF4):c.528+18G>A	NCF4	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 260304	NM_000631.5(NCF4):c.528+18G>C	NCF4	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1282265	NM_000631.5(NCF4):c.528+172G>A	NCF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236869	NM_000631.5(NCF4):c.528+192C>A	NCF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318389	NM_000631.5(NCF4):c.528+203C>G	NCF4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265229	NM_000631.5(NCF4):c.528+208G>A	NCF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244953	NM_000631.5(NCF4):c.529-290A>G	NCF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278896	NM_000631.5(NCF4):c.529-112C>T	NCF4	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1707125	NM_000631.5(NCF4):c.529-54T>C	NCF4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010583	NM_000631.5(NCF4):c.529-18C>T	NCF4	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 1582932	NM_000631.5(NCF4):c.529-13C>T	NCF4	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 2910578	NM_000631.5(NCF4):c.529-12G>A	NCF4	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 1324783	NM_000631.5(NCF4):c.529-2A>T	NCF4	Single nucleotide variant (splice acceptor variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GPathogenic/Likely pathogenic
Select item 655016	NM_000631.5(NCF4):c.539A>C (p.Asp180Ala)	NCF4 (D180A)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 2128430	NM_000631.5(NCF4):c.543C>T (p.Phe181=)	NCF4	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 539175	NM_000631.5(NCF4):c.544A>C (p.Thr182Pro)	NCF4 (T182P)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 +1 more	GUncertain significance
Select item 2871617	NM_000631.5(NCF4):c.549A>C (p.Gly183=)	NCF4	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 2870940	NM_000631.5(NCF4):c.549A>G (p.Gly183=)	NCF4	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 577126	NM_000631.5(NCF4):c.553A>G (p.Ser185Gly)	NCF4 (S185G)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 566597	NM_000631.5(NCF4):c.562G>C (p.Glu188Gln)	NCF4 (E188Q)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 2164419	NM_000631.5(NCF4):c.566T>C (p.Leu189Pro)	NCF4 (L189P)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 2053906	NM_000631.5(NCF4):c.578C>G (p.Ala193Gly)	NCF4 (A193G)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 2698711	NM_000631.5(NCF4):c.585T>C (p.Asp195=)	NCF4	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 1427252	NM_000631.5(NCF4):c.586G>A (p.Val196Met)	NCF4 (V196M)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 1421108	NM_000631.5(NCF4):c.596T>C (p.Leu199Pro)	NCF4 (L199P)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 1051984	NM_000631.5(NCF4):c.604C>T (p.Arg202Trp)	NCF4 (R202W)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 1374918	NM_000631.5(NCF4):c.605G>A (p.Arg202Gln)	NCF4 (R202Q)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 2585469	NM_000631.5(NCF4):c.614_615del (p.Lys205fs)	NCF4 (K205fs)	Deletion (frameshift variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely pathogenic
Select item 2162545	NM_000631.5(NCF4):c.617A>G (p.Asp206Gly)	NCF4 (D206G)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 2500063	NM_000631.5(NCF4):c.619T>C (p.Trp207Arg)	NCF4 (W207R)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 1983774	NM_000631.5(NCF4):c.621G>T (p.Trp207Cys)	NCF4 (W207C)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 3013091	NM_000631.5(NCF4):c.627+9A>G	NCF4	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 1610572	NM_000631.5(NCF4):c.627+15G>C	NCF4	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 1363822	NM_000631.5(NCF4):c.627+22_627+33dup	NCF4	Duplication (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 1289221	NM_000631.5(NCF4):c.627+34A>G	NCF4	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1289546	NM_000631.5(NCF4):c.627+88A>G	NCF4	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1318384	NM_000631.5(NCF4):c.627+184G>A	NCF4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1281894	NM_000631.5(NCF4):c.627+209_627+256del	NCF4	Deletion (intron variant)	not provided	GBenign
Select item 1238963	NM_000631.5(NCF4):c.628-264C>A	NCF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 260305	NM_000631.5(NCF4):c.628-14C>A	NCF4	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1506377	NM_000631.5(NCF4):c.628-3C>G	NCF4	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 859548	NM_000631.5(NCF4):c.628-3C>T	NCF4	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 643606	NM_000631.5(NCF4):c.638G>A (p.Arg213Gln)	NCF4 (R213Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1041365	NM_000631.5(NCF4):c.641G>A (p.Gly214Glu)	NCF4 (G214E)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 341555	NM_000631.5(NCF4):c.647C>T (p.Thr216Met)	NCF4 (T216M)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 +2 more	GConflicting classifications of pathogenicity
Select item 2053184	NM_000631.5(NCF4):c.648G>C (p.Thr216=)	NCF4	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign

<< First< Prev

Page of 3