Related gene-specific medical variations for Gene (Select 4689) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3006786	NM_000631.5(NCF4):c.369G>A (p.Val123=)	NCF4, NCF4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
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 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 2836705	NM_000631.5(NCF4):c.272-19G>C	NCF4, NCF4-AS1	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 2824827	NM_000631.5(NCF4):c.272-8C>A	NCF4, NCF4-AS1	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
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 2784742	NM_000631.5(NCF4):c.348G>A (p.Leu116=)	NCF4, NCF4-AS1	Single nucleotide variant (synonymous variant +1 more)	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 2762518	NM_000631.5(NCF4):c.367del (p.Val123fs)	NCF4, NCF4-AS1 (V123fs)	Deletion (non-coding transcript variant +1 more)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GPathogenic
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 2731458	NM_000631.5(NCF4):c.272-12G>T	NCF4, NCF4-AS1	Single nucleotide variant (intron 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 2461206	NM_000631.5(NCF4):c.173G>A (p.Arg58His)	NCF4, NCF4-AS1 (R58H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2417421	NM_000631.5(NCF4):c.301A>G (p.Ile101Val)	NCF4, NCF4-AS1 (I101V)	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)	not specified	GUncertain significance
Select item 2198294	NM_000631.5(NCF4):c.283G>A (p.Val95Met)	NCF4, NCF4-AS1 (V95M)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
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 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 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 2139968	NM_000631.5(NCF4):c.258G>A (p.Leu86=)	NCF4, NCF4-AS1	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GBenign
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 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 2122875	NM_000631.5(NCF4):c.330C>A (p.Asn110Lys)	NCF4, NCF4-AS1 (N110K)	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 2090753	NM_000631.5(NCF4):c.343-15G>C	NCF4, NCF4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	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 2065848	NM_000631.5(NCF4):c.342+12C>T	NCF4, NCF4-AS1	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
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 2022336	NM_000631.5(NCF4):c.271+9C>T	NCF4, NCF4-AS1	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
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 1958298	NM_000631.5(NCF4):c.279C>T (p.Val93=)	NCF4, NCF4-AS1	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 1949122	NM_000631.5(NCF4):c.307G>A (p.Glu103Lys)	NCF4, NCF4-AS1 (E103K)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
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 1933256	NM_000631.5(NCF4):c.256del (p.Leu86fs)	NCF4, NCF4-AS1 (L86fs)	Deletion (frameshift variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GPathogenic
Select item 1907675	NM_000631.5(NCF4):c.271+16C>T	NCF4, NCF4-AS1	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 1899708	NM_000631.5(NCF4):c.260C>T (p.Pro87Leu)	NCF4-AS1, NCF4 (P87L)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
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 1654121	NM_000631.5(NCF4):c.303C>T (p.Ile101=)	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 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 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 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 1629214	NM_000631.5(NCF4):c.267C>A (p.Leu89=)	NCF4, NCF4-AS1	Single nucleotide variant (synonymous 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 1614947	NM_000631.5(NCF4):c.272-14_272-13del	NCF4, NCF4-AS1	Deletion (intron 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 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 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 1576959	NM_000631.5(NCF4):c.272-19G>A	NCF4, NCF4-AS1	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 1574328	NM_000631.5(NCF4):c.343-13C>G	NCF4, NCF4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 1560511	NM_000631.5(NCF4):c.271+17G>A	NCF4, NCF4-AS1	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 1557957	NM_000631.5(NCF4):c.272-7_272-6del	NCF4, NCF4-AS1	Deletion (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GLikely benign
Select item 1540272	NM_000631.5(NCF4):c.282C>T (p.Tyr94=)	NCF4, NCF4-AS1	Single nucleotide variant (synonymous 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 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 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 1517058	NM_000631.5(NCF4):c.361G>A (p.Val121Ile)	NCF4, NCF4-AS1 (V121I)	Single nucleotide variant (non-coding transcript variant +1 more)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	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 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 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 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 1461780	NM_000631.5(NCF4):c.342+16G>A	NCF4, NCF4-AS1	Single nucleotide variant (intron 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 1432872	NM_000631.5(NCF4):c.344G>A (p.Ser115Asn)	NCF4, NCF4-AS1 (S115N)	Single nucleotide variant (non-coding transcript variant +1 more)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
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 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 1419934	NM_000631.5(NCF4):c.331_333dup (p.Ala111dup)	NCF4, NCF4-AS1	Duplication (inframe_insertion)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
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 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 1410723	NM_000631.5(NCF4):c.313C>T (p.Arg105Trp)	NCF4, NCF4-AS1 (R105W)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 1389502	NM_000631.5(NCF4):c.280T>C (p.Tyr94His)	NCF4, NCF4-AS1 (Y94H)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
Select item 1387901	NM_000631.5(NCF4):c.247G>A (p.Ala83Thr)	NCF4, NCF4-AS1 (A83T)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GUncertain significance
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 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 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 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 1318365	NM_000631.5(NCF4):c.-95C>T	NCF4, NCF4-AS1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
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 1317706	NM_000631.5(NCF4):c.342+29G>A	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 1316748	NM_000631.5(NCF4):c.271+220C>G	NCF4, NCF4-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1290837	NM_000631.5(NCF4):c.118-148A>G	NCF4, NCF4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282721	NM_000631.5(NCF4):c.342+114G>A	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 1277876	NM_000631.5(NCF4):c.272-281GT[17]	NCF4, NCF4-AS1	Microsatellite (intron variant)	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 1265734	NM_000631.5(NCF4):c.-37G>A	NCF4, NCF4-AS1	Single nucleotide variant (5 prime UTR 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 1242301	NM_000631.5(NCF4):c.272-249_272-248insTGTGTGTGCG	NCF4, NCF4-AS1	Duplication (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 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 1232966	NM_000631.5(NCF4):c.343-337G>A	NCF4, NCF4-AS1	Single nucleotide variant (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 1231793	NM_000631.5(NCF4):c.33-166C>T	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 1229632	NM_000631.5(NCF4):c.272-281GT[19]	NCF4-AS1, NCF4	Microsatellite (intron variant)	not provided	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 1227207	NM_000631.5(NCF4):c.343-339G>A	NCF4, NCF4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221633	NM_000631.5(NCF4):c.118-284A>G	NCF4, NCF4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign

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