ClinVar for MedGen (Select 5377) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063912	NM_000433.4(NCF2):c.623_624del (p.Val208fs)	NCF2 (V127fs +3 more)	Microsatellite (frameshift variant)	Chronic granulomatous disease	GPathogenic
Select item 2581423	NM_000433.4(NCF2):c.1099C>T (p.Gln367Ter)	NCF2 (Q286* +3 more)	Single nucleotide variant (nonsense)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 +1 more	GPathogenic
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 2501077	NM_000433.4(NCF2):c.500G>A (p.Trp167Ter)	NCF2 (W167*)	Single nucleotide variant (nonsense +1 more)	Chronic granulomatous disease +1 more	GPathogenic/Likely pathogenic
Select item 2501061	NC_000007.13:g.(74188451_74191612)_(74193769_74195125)dup	NCF1	Duplication	Chronic granulomatous disease	GLikely pathogenic
Select item 2445914	NM_000433.4(NCF2):c.417del (p.Ala140fs)	NCF2 (A140fs)	Deletion (frameshift variant +1 more)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 +1 more	GPathogenic/Likely pathogenic
Select item 1677176	NM_000433.4(NCF2):c.1438del (p.Glu480fs)	NCF2 (E399fs +2 more)	Deletion (frameshift variant)	Chronic granulomatous disease	GLikely pathogenic
Select item 1461749	NM_000433.4(NCF2):c.1026G>A (p.Lys342=)	NCF2	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 +1 more	GConflicting classifications of pathogenicity
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 1169993	NM_000397.4(CYBB):c.549G>A (p.Thr183=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GBenign
Select item 1168673	NM_000397.4(CYBB):c.142-12C>T	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GBenign
Select item 1168658	NM_000101.4(CYBA):c.36A>G (p.Glu12=)	CYBA	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative +2 more	GBenign
Select item 1167478	NM_000397.4(CYBB):c.171A>G (p.Ala57=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GBenign
Select item 1166592	NM_000397.4(CYBB):c.1413C>T (p.Ala471=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GBenign
Select item 1166211	NM_000397.4(CYBB):c.675-4C>T	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GBenign
Select item 1164652	NM_000397.4(CYBB):c.1701G>A (p.Lys567=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GBenign
Select item 1164563	NM_000397.4(CYBB):c.348C>T (p.Thr116=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GBenign
Select item 1156899	NM_000397.4(CYBB):c.388C>A (p.Arg130=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked +1 more	GLikely benign
Select item 1149798	NM_000397.4(CYBB):c.43A>G (p.Ile15Val)	CYBB, LOC130068093 (I15V)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 1118750	NM_000397.4(CYBB):c.1581C>T (p.His527=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 1118108	NM_000101.4(CYBA):c.453G>A (p.Pro151=)	CYBA	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 1086468	NM_000397.4(CYBB):c.452G>A (p.Ser151Asn)	CYBB (S151N)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 1079682	NM_000397.4(CYBB):c.1641T>C (p.Ser547=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 1072119	NM_000101.4(CYBA):c.166dup (p.Arg56fs)	CYBA (R56fs)	Duplication (frameshift variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GPathogenic
Select item 1066762	NM_000101.4(CYBA):c.128+2T>C	CYBA	Single nucleotide variant (splice donor variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely pathogenic
Select item 1063259	NM_000101.4(CYBA):c.166C>G (p.Arg56Gly)	CYBA (R56G)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 1042235	NM_000101.4(CYBA):c.379C>A (p.Arg127Ser)	CYBA (R127S)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 1022770	NM_000397.4(CYBB):c.8A>C (p.Asn3Thr)	CYBB (N3T)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 1021751	NM_000101.4(CYBA):c.370-3C>T	CYBA	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 1020228	NM_000397.4(CYBB):c.43A>T (p.Ile15Phe)	CYBB, LOC130068093 (I15F)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, X-linked	GUncertain significance
Select item 1017273	NM_000397.4(CYBB):c.698C>T (p.Ala233Val)	CYBB (A233V)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 1010892	NM_000101.4(CYBA):c.553G>A (p.Val185Ile)	CYBA (V185I)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 1004956	NM_000101.4(CYBA):c.425C>T (p.Pro142Leu)	CYBA (P142L)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 1001140	NM_000101.4(CYBA):c.95G>A (p.Arg32His)	CYBA (R32H)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 991715	NM_000397.4(CYBB):c.1617T>C (p.Pro539=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GBenign
Select item 991714	NM_000397.4(CYBB):c.674+1081G>A	CYBB	Single nucleotide variant (intron variant)	Chronic granulomatous disease	GUncertain significance
Select item 991713	NM_000397.4(CYBB):c.483+978G>A	CYBB	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 991712	NM_000397.4(CYBB):c.328C>T (p.Leu110Phe)	CYBB (L110F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 991711	NM_000397.4(CYBB):c.216T>C (p.Cys72=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GBenign
Select item 991389	NM_000397.4(CYBB):c.141+7A>T	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 991388	NM_000397.4(CYBB):c.10T>A (p.Trp4Arg)	CYBB (W4R)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, X-linked	GBenign
Select item 989979	NM_000101.4(CYBA):c.-6G>C	CYBA	Single nucleotide variant (5 prime UTR variant)	Chronic granulomatous disease	GUncertain significance
Select item 989978	NM_000101.4(CYBA):c.135G>A (p.Ala45=)	CYBA	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 989977	NM_000101.4(CYBA):c.273C>T (p.Ala91=)	CYBA	Single nucleotide variant (synonymous variant)	CYBA-related disorder +1 more	GLikely benign
Select item 989976	NM_000101.4(CYBA):c.415C>T (p.Arg139Trp)	CYBA (R139W)	Single nucleotide variant (missense variant)	Chronic granulomatous disease	GUncertain significance
Select item 989975	NM_000101.4(CYBA):c.422_427del (p.Arg141_Pro142del)	CYBA	Deletion (inframe_deletion)	Chronic granulomatous disease	GUncertain significance
Select item 989974	NM_000101.4(CYBA):c.515C>G (p.Ala172Gly)	CYBA (A172G)	Single nucleotide variant (missense variant)	Chronic granulomatous disease	GUncertain significance
Select item 989973	NM_000101.4(CYBA):c.516T>G (p.Ala172=)	CYBA	Single nucleotide variant (synonymous variant)	Chronic granulomatous disease	GUncertain significance
Select item 989972	NM_000101.4(CYBA):c.531G>A (p.Gly177=)	CYBA	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 968606	NM_000101.4(CYBA):c.134C>T (p.Ala45Val)	CYBA (A45V)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 967831	NM_000101.4(CYBA):c.402C>G (p.Ile134Met)	CYBA (I134M)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 966844	NM_000101.4(CYBA):c.418G>A (p.Glu140Lys)	CYBA (E140K)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 965927	NM_000101.4(CYBA):c.287+2T>C	CYBA	Single nucleotide variant (splice donor variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GPathogenic
Select item 965226	NM_000397.4(CYBB):c.1340A>T (p.Asp447Val)	CYBB (D447V)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, X-linked +1 more	GUncertain significance
Select item 965223	NM_000397.4(CYBB):c.1291G>A (p.Ala431Thr)	CYBB (A431T)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, X-linked +1 more	GUncertain significance
Select item 964277	NM_000397.4(CYBB):c.336T>C (p.Ser112=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GUncertain significance
Select item 962396	NM_000397.4(CYBB):c.542T>C (p.Val181Ala)	CYBB (V181A)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, X-linked	GUncertain significance
Select item 958752	NM_000101.4(CYBA):c.583G>A (p.Val195Met)	CYBA (V195M)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 955030	NM_000397.4(CYBB):c.1427A>G (p.Tyr476Cys)	CYBB (Y476C)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 953311	NM_000101.4(CYBA):c.204-2A>G	CYBA	Single nucleotide variant (splice acceptor variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GPathogenic
Select item 950463	NM_000101.4(CYBA):c.452C>T (p.Pro151Leu)	CYBA (P151L)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 948436	NM_000101.4(CYBA):c.574G>C (p.Asp192His)	CYBA (D192H)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 946421	NM_000101.4(CYBA):c.211A>C (p.Lys71Gln)	CYBA (K71Q)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 936950	NM_000101.4(CYBA):c.539C>T (p.Pro180Leu)	CYBA (P180L)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 935492	NM_000101.4(CYBA):c.257A>G (p.Asn86Ser)	CYBA (N86S)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 859385	NM_000101.4(CYBA):c.567G>A (p.Pro189=)	CYBA	Single nucleotide variant (synonymous variant)	CYBA-related disorder +1 more	GLikely benign
Select item 858051	NM_000397.4(CYBB):c.1496A>C (p.Lys499Thr)	CYBB (K499T)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 858015	NM_000101.4(CYBA):c.486G>C (p.Glu162Asp)	CYBA (E162D)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 853154	NM_000101.4(CYBA):c.304G>A (p.Gly102Ser)	CYBA (G102S)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 851807	NM_000101.4(CYBA):c.505G>A (p.Glu169Lys)	CYBA (E169K)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 848548	NM_000101.4(CYBA):c.94C>T (p.Arg32Cys)	CYBA (R32C)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 844815	NM_000101.4(CYBA):c.223G>A (p.Ala75Thr)	CYBA (A75T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 795013	NM_000397.4(CYBB):c.562T>C (p.Leu188=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 793211	NM_000101.4(CYBA):c.468G>C (p.Pro156=)	CYBA	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 792568	NM_000397.4(CYBB):c.126A>G (p.Thr42=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 788249	NM_000397.4(CYBB):c.6G>C (p.Gly2=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GBenign
Select item 765047	NM_000101.4(CYBA):c.483C>T (p.Ala161=)	CYBA	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 763293	NM_000101.4(CYBA):c.333C>T (p.Thr111=)	CYBA	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 761844	NM_000397.4(CYBB):c.1587-6C>T	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 759689	NM_000101.4(CYBA):c.59-5C>T	CYBA	Single nucleotide variant (intron variant)	CYBA-related disorder +1 more	GLikely benign
Select item 756010	NM_000397.4(CYBB):c.1158G>A (p.Ala386=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GBenign
Select item 754711	NM_000101.4(CYBA):c.426G>A (p.Pro142=)	CYBA	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 753736	NM_000101.4(CYBA):c.243G>A (p.Gly81=)	CYBA	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 752677	NM_000397.4(CYBB):c.1300C>T (p.Leu434=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GBenign
Select item 752130	NM_000397.4(CYBB):c.1137G>A (p.Ala379=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 750157	NM_000397.4(CYBB):c.27G>T (p.Gly9=)	CYBB, LOC130068093	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 734067	NM_000101.4(CYBA):c.69C>T (p.Thr23=)	CYBA	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GLikely benign
Select item 733197	NM_000101.4(CYBA):c.226G>A (p.Val76Met)	CYBA (V76M)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GConflicting classifications of pathogenicity
Select item 733145	NM_000397.4(CYBB):c.1203T>C (p.Tyr401=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GBenign
Select item 732210	NM_000397.4(CYBB):c.1414G>A (p.Gly472Ser)	CYBB (G472S)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, X-linked +4 more	GConflicting classifications of pathogenicity
Select item 726829	NM_000397.4(CYBB):c.30C>T (p.Leu10=)	CYBB, LOC130068093	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GBenign
Select item 718607	NM_000101.4(CYBA):c.59-4G>A	CYBA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 716689	NM_000397.4(CYBB):c.1032C>G (p.Ser344=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GBenign
Select item 710493	NM_000397.4(CYBB):c.1689C>T (p.Phe563=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GBenign
Select item 664770	NM_000101.4(CYBA):c.293C>T (p.Ser98Leu)	CYBA (S98L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 664427	NM_000101.4(CYBA):c.241G>C (p.Gly81Arg)	CYBA (G81R)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative +1 more	GUncertain significance
Select item 664410	NM_000101.4(CYBA):c.421C>T (p.Arg141Trp)	CYBA (R141W)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 657609	NM_000101.4(CYBA):c.128+5C>T	CYBA	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 654116	NM_000101.4(CYBA):c.422G>A (p.Arg141Gln)	CYBA (R141Q)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 651593	NM_000101.4(CYBA):c.128+5C>G	CYBA	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance

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