"GeneDx"[submitter] AND "NCF4"[gene] - ClinVar

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

Search results

Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57629	GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1	ANKRD54, APOL1 +293 more	Copy number loss	See cases	GPathogenic
Select item 1270928	NC_000022.11:g.36860804G>A	NCF4, NCF4-AS1	Single nucleotide variant	not provided	GBenign
Select item 1318365	NM_000631.5(NCF4):c.-95C>T	NCF4, NCF4-AS1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1265734	NM_000631.5(NCF4):c.-37G>A	NCF4, NCF4-AS1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1231793	NM_000631.5(NCF4):c.33-166C>T	NCF4, NCF4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 341548	NM_000631.5(NCF4):c.63C>T (p.Ala21=)	NCF4, NCF4-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 260306	NM_000631.5(NCF4):c.69G>A (p.Ser23=)	NCF4, NCF4-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1228664	NM_000631.5(NCF4):c.117+67_117+87del	NCF4, NCF4-AS1	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1221633	NM_000631.5(NCF4):c.118-284A>G	NCF4, NCF4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279004	NM_000631.5(NCF4):c.118-206dup	NCF4, NCF4-AS1	Duplication (intron variant)	not provided	GBenign
Select item 1290837	NM_000631.5(NCF4):c.118-148A>G	NCF4, NCF4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317857	NM_000631.5(NCF4):c.118-72T>C	NCF4-AS1, NCF4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 500837	NM_000631.5(NCF4):c.172C>T (p.Arg58Cys)	NCF4, NCF4-AS1 (R58C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 341550	NM_000631.5(NCF4):c.240T>C (p.Ser80=)	NCF4, NCF4-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 287656	NM_000631.5(NCF4):c.254C>A (p.Thr85Asn)	NCF4, NCF4-AS1 (T85N)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 1316748	NM_000631.5(NCF4):c.271+220C>G	NCF4, NCF4-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317656	NM_000631.5(NCF4):c.272-281GT[22]	NCF4, NCF4-AS1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1277876	NM_000631.5(NCF4):c.272-281GT[17]	NCF4, NCF4-AS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1258821	NM_000631.5(NCF4):c.272-281GT[21]	NCF4, NCF4-AS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1241176	NM_000631.5(NCF4):c.272-281GT[20]	NCF4, NCF4-AS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1231913	NM_000631.5(NCF4):c.272-281GT[18]	NCF4, NCF4-AS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1229632	NM_000631.5(NCF4):c.272-281GT[19]	NCF4-AS1, NCF4	Microsatellite (intron variant)	not provided	GBenign
Select item 1242301	NM_000631.5(NCF4):c.272-249_272-248insTGTGTGTGCG	NCF4, NCF4-AS1	Duplication (intron variant)	not provided	GBenign
Select item 1317706	NM_000631.5(NCF4):c.342+29G>A	NCF4, NCF4-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1282721	NM_000631.5(NCF4):c.342+114G>A	NCF4, NCF4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230820	NM_000631.5(NCF4):c.342+202C>T	NCF4, NCF4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227207	NM_000631.5(NCF4):c.343-339G>A	NCF4, NCF4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232966	NM_000631.5(NCF4):c.343-337G>A	NCF4, NCF4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236515	NM_000631.5(NCF4):c.343-135A>G	NCF4, NCF4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1266788	NM_000631.5(NCF4):c.343-73C>T	NCF4, NCF4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 471812	NM_000631.5(NCF4):c.343-4A>G	NCF4-AS1, NCF4	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign/Likely 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 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 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 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 260307	NM_000631.5(NCF4):c.735C>T (p.Tyr245=)	NCF4	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 260308	NM_000631.5(NCF4):c.758+57T>C	NCF4 (L272P)	Single nucleotide variant (missense variant +1 more)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 +2 more	GBenign
Select item 1247630	NM_000631.5(NCF4):c.824+50G>A	NCF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261867	NM_000631.5(NCF4):c.824+236G>T	NCF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290447	NM_000631.5(NCF4):c.825-214A>G	NCF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 260303	NM_000631.5(NCF4):c.897G>A (p.Ser299=)	NCF4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1288899	NM_000631.5(NCF4):c.960C>T (p.Phe320=)	NCF4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1240507	NM_000631.5(NCF4):c.1011G>A (p.Thr337=)	NCF4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 60