4689[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	A4GALT, ACO2 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC126863153, LOC126863154 +2088 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	LOC130067137, LOC130067138 +823 more	Copy number gain	See cases	GPathogenic
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 57630	GRCh38/hg38 22q12.3-13.1(chr22:36552376-37669915)x1	C1QTNF6, CACNG2 +93 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 1152474	NM_000631.5(NCF4):c.18G>A (p.Gln6=)	NCF4, NCF4-AS1	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 1064300	NM_000631.5(NCF4):c.22C>T (p.Arg8Trp)	NCF4-AS1, NCF4 (R8W)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 1499091	NM_000631.5(NCF4):c.23G>A (p.Arg8Gln)	NCF4, NCF4-AS1 (R8Q)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 2099410	NM_000631.5(NCF4):c.26C>G (p.Ala9Gly)	NCF4, NCF4-AS1 (A9G)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 733069	NM_000631.5(NCF4):c.27C>T (p.Ala9=)	NCF4-AS1, NCF4	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 341546	NM_000631.5(NCF4):c.28G>A (p.Glu10Lys)	NCF4, NCF4-AS1 (E10K)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 794807	NM_000631.5(NCF4):c.30G>A (p.Glu10=)	NCF4, NCF4-AS1	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 932310	NM_000631.5(NCF4):c.32+2T>G	NCF4, NCF4-AS1	Single nucleotide variant (splice donor variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GPathogenic
Select item 1378028	NM_000631.5(NCF4):c.32+3G>A	NCF4, NCF4-AS1	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 1160978	NM_000631.5(NCF4):c.32+9C>A	NCF4, NCF4-AS1	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 1578518	NM_000631.5(NCF4):c.32+10G>A	NCF4, NCF4-AS1	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 3009158	NM_000631.5(NCF4):c.32+13G>T	NCF4, NCF4-AS1	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 1671506	NM_000631.5(NCF4):c.32+20C>T	NCF4, NCF4-AS1	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 1165017	NM_000631.5(NCF4):c.32+1258T>C	NCF4, NCF4-AS1	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	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 584111	NC_000022.11:g.(?_36864025)_(36870562_?)del	NCF4, NCF4-AS1	Deletion	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 747607	NM_000631.5(NCF4):c.33-7C>T	NCF4, NCF4-AS1	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 1144130	NM_000631.5(NCF4):c.33-6G>T	NCF4, NCF4-AS1	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 341547	NM_000631.5(NCF4):c.33-6G>A	NCF4, NCF4-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1474317	NM_000631.5(NCF4):c.33-3C>T	NCF4, NCF4-AS1	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 1192210	NM_000631.5(NCF4):c.33-1G>A	NCF4, NCF4-AS1	Single nucleotide variant (splice acceptor variant)	Chronic granulomatous disease	GLikely pathogenic
Select item 2134104	NM_000631.5(NCF4):c.41A>G (p.Glu14Gly)	NCF4, NCF4-AS1 (E14G)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 661385	NM_000631.5(NCF4):c.50C>T (p.Pro17Leu)	NCF4, NCF4-AS1 (P17L)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 +1 more	GUncertain significance
Select item 2137539	NM_000631.5(NCF4):c.51G>T (p.Pro17=)	NCF4, NCF4-AS1	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 1128847	NM_000631.5(NCF4):c.51G>A (p.Pro17=)	NCF4, NCF4-AS1	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 1595100	NM_000631.5(NCF4):c.57T>C (p.Asp19=)	NCF4, NCF4-AS1	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 1027045	NM_000631.5(NCF4):c.58G>A (p.Val20Ile)	NCF4, NCF4-AS1 (V20I)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
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 1428981	NM_000631.5(NCF4):c.68C>T (p.Ser23Leu)	NCF4, NCF4-AS1 (S23L)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 1964102	NM_000631.5(NCF4):c.69G>T (p.Ser23=)	NCF4, NCF4-AS1	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 260306	NM_000631.5(NCF4):c.69G>A (p.Ser23=)	NCF4-AS1, NCF4	Single nucleotide variant (synonymous variant)	NCF4-related condition +2 more	GBenign
Select item 1412668	NM_000631.5(NCF4):c.74A>G (p.Asn25Ser)	NCF4, NCF4-AS1 (N25S)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 1087483	NM_000631.5(NCF4):c.78T>C (p.Ile26=)	NCF4, NCF4-AS1	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 1500943	NM_000631.5(NCF4):c.85A>C (p.Ile29Leu)	NCF4, NCF4-AS1 (I29L)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 1522216	NM_000631.5(NCF4):c.87C>A (p.Ile29=)	NCF4, NCF4-AS1	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 742188	NM_000631.5(NCF4):c.87C>T (p.Ile29=)	NCF4, NCF4-AS1	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 2151622	NM_000631.5(NCF4):c.88G>A (p.Glu30Lys)	NCF4, NCF4-AS1 (E30K)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 1642921	NM_000631.5(NCF4):c.90G>A (p.Glu30=)	NCF4, NCF4-AS1	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 1443388	NM_000631.5(NCF4):c.94A>G (p.Lys32Glu)	NCF4, NCF4-AS1 (K32E)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 2063012	NM_000631.5(NCF4):c.101G>C (p.Gly34Ala)	NCF4, NCF4-AS1 (G34A)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 641455	NM_000631.5(NCF4):c.101G>T (p.Gly34Val)	NCF4, NCF4-AS1 (G34V)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 803684	NM_000631.5(NCF4):c.106A>C (p.Thr36Pro)	NCF4, NCF4-AS1 (T36P)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 1935804	NM_000631.5(NCF4):c.107C>T (p.Thr36Ile)	NCF4, NCF4-AS1 (T36I)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 1025577	NM_000631.5(NCF4):c.111C>A (p.Ser37Arg)	NCF4, NCF4-AS1 (S37R)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 2143785	NM_000631.5(NCF4):c.117+14C>G	NCF4, NCF4-AS1	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 2763327	NM_000631.5(NCF4):c.117+18T>A	NCF4, NCF4-AS1	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 1633565	NM_000631.5(NCF4):c.117+19C>T	NCF4, NCF4-AS1	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 1620228	NM_000631.5(NCF4):c.117+20C>T	NCF4, NCF4-AS1	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
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 2077644	NM_000631.5(NCF4):c.118-23_118-13del	NCF4, NCF4-AS1	Deletion (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 2877524	NM_000631.5(NCF4):c.118-16C>A	NCF4, NCF4-AS1	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 1589141	NM_000631.5(NCF4):c.118-16C>T	NCF4, NCF4-AS1	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 1537841	NM_000631.5(NCF4):c.118-11G>A	NCF4, NCF4-AS1	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 2171143	NM_000631.5(NCF4):c.118-6_118-4del	NCF4, NCF4-AS1	Microsatellite (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 1128318	NM_000631.5(NCF4):c.118-10T>C	NCF4, NCF4-AS1	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 1640397	NM_000631.5(NCF4):c.118-8C>T	NCF4, NCF4-AS1	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 803685	NC_000022.11:g.36864921_36864935del	NCF4-AS1, NCF4	Deletion	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely pathogenic
Select item 425281	NM_000631.5(NCF4):c.118-1G>A	NCF4, NCF4-AS1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 642515	NM_000631.5(NCF4):c.122T>A (p.Phe41Tyr)	NCF4, NCF4-AS1 (F41Y)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 964445	NM_000631.5(NCF4):c.124G>C (p.Val42Leu)	NCF4, NCF4-AS1 (V42L)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 2759642	NM_000631.5(NCF4):c.126C>A (p.Val42=)	NCF4, NCF4-AS1	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 1157852	NM_000631.5(NCF4):c.129C>T (p.Ile43=)	NCF4, NCF4-AS1	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 645193	NM_000631.5(NCF4):c.129C>A (p.Ile43=)	NCF4, NCF4-AS1	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 3003945	NM_000631.5(NCF4):c.132G>A (p.Glu44=)	NCF4, NCF4-AS1	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 222998	NM_000631.5(NCF4):c.143_152dup (p.Lys52fs)	NCF4, NCF4-AS1 (K52fs)	Duplication (frameshift variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GPathogenic
Select item 30193	NM_000631.5(NCF4):c.143_152del (p.Lys48fs)	NCF4, NCF4-AS1 (K48fs)	Deletion (frameshift variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GPathogenic
Select item 661353	NM_000631.5(NCF4):c.145G>A (p.Gly49Arg)	NCF4-AS1, NCF4 (G49R)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 1422208	NM_000631.5(NCF4):c.164T>C (p.Ile55Thr)	NCF4, NCF4-AS1 (I55T)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 1412015	NM_000631.5(NCF4):c.170G>A (p.Arg57His)	NCF4, NCF4-AS1 (R57H)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 853519	NM_000631.5(NCF4):c.170G>T (p.Arg57Leu)	NCF4, NCF4-AS1 (R57L)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 500837	NM_000631.5(NCF4):c.172C>T (p.Arg58Cys)	NCF4, NCF4-AS1 (R58C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2461206	NM_000631.5(NCF4):c.173G>A (p.Arg58His)	NCF4, NCF4-AS1 (R58H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 970787	NM_000631.5(NCF4):c.178C>T (p.Arg60Cys)	NCF4, NCF4-AS1 (R60C)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 539179	NM_000631.5(NCF4):c.179G>A (p.Arg60His)	NCF4, NCF4-AS1 (R60H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1359757	NM_000631.5(NCF4):c.180C>T (p.Arg60=)	NCF4, NCF4-AS1	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 1376917	NM_000631.5(NCF4):c.201C>T (p.Ser67=)	NCF4, NCF4-AS1	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 1136255	NM_000631.5(NCF4):c.204G>A (p.Lys68=)	NCF4, NCF4-AS1	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 1522106	NM_000631.5(NCF4):c.215G>A (p.Arg72His)	NCF4, NCF4-AS1 (R72H)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 950441	NM_000631.5(NCF4):c.217T>G (p.Phe73Val)	NCF4, NCF4-AS1 (F73V)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 1095067	NM_000631.5(NCF4):c.219C>T (p.Phe73=)	NCF4, NCF4-AS1	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 2636889	NM_000631.5(NCF4):c.220G>C (p.Gly74Arg)	NCF4, NCF4-AS1 (G74R)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 +1 more	GUncertain significance
Select item 1507422	NM_000631.5(NCF4):c.220G>A (p.Gly74Arg)	NCF4, NCF4-AS1 (G74R)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 2810328	NM_000631.5(NCF4):c.222G>T (p.Gly74=)	NCF4, NCF4-AS1	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 1094543	NM_000631.5(NCF4):c.222G>A (p.Gly74=)	NCF4, NCF4-AS1	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 1088239	NM_000631.5(NCF4):c.222G>C (p.Gly74=)	NCF4, NCF4-AS1	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 1651596	NM_000631.5(NCF4):c.228C>T (p.Asp76=)	NCF4, NCF4-AS1	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 852015	NM_000631.5(NCF4):c.229A>G (p.Ser77Gly)	NCF4, NCF4-AS1 (S77G)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 2386708	NM_000631.5(NCF4):c.238A>G (p.Ser80Gly)	NCF4, NCF4-AS1 (S80G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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