ClinVar for MedGen (Select 336165) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 579

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065007	NM_000397.4(CYBB):c.62del (p.Gly20_Leu21insTer)	CYBB	Deletion (frameshift variant +1 more)	Granulomatous disease, chronic, X-linked	GUncertain significance
Select item 3064418	NM_000397.4(CYBB):c.675-1157A>G	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GUncertain significance
Select item 3063877	NM_000397.4(CYBB):c.253-1G>C	CYBB	Single nucleotide variant (splice acceptor variant)	Granulomatous disease, chronic, X-linked	GPathogenic
Select item 3022693	NM_000397.4(CYBB):c.267A>G (p.Arg89=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 3022152	NM_000397.4(CYBB):c.841C>A (p.Leu281Ile)	CYBB (L281I)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, X-linked	GUncertain significance
Select item 3020033	NM_000397.4(CYBB):c.804+10A>G	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 3019925	NM_000397.4(CYBB):c.1537C>T (p.Arg513Trp)	CYBB (R513W)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, X-linked	GUncertain significance
Select item 3016891	NM_000397.4(CYBB):c.32C>T (p.Ser11Phe)	CYBB, LOC130068093 (S11F)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, X-linked	GUncertain significance
Select item 3015528	NM_000397.4(CYBB):c.675-3del	CYBB	Deletion (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 3013790	NM_000397.4(CYBB):c.253-14C>T	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 3008170	NM_000397.4(CYBB):c.805-4A>G	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 3007579	NM_000397.4(CYBB):c.1336C>T (p.Arg446Trp)	CYBB (R446W)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, X-linked	GUncertain significance
Select item 3000797	NM_000397.4(CYBB):c.714G>C (p.Val238=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2998927	NM_000397.4(CYBB):c.921C>T (p.Thr307=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2994136	NM_000397.4(CYBB):c.19A>C (p.Asn7His)	CYBB (N7H)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, X-linked	GUncertain significance
Select item 2984361	NC_000023.11:g.37780011T>G	CYBB	Single nucleotide variant	Granulomatous disease, chronic, X-linked	GUncertain significance
Select item 2983511	NM_000397.4(CYBB):c.804+13C>A	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2981575	NM_000397.4(CYBB):c.897+6G>A	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GUncertain significance
Select item 2980923	NM_000397.4(CYBB):c.279A>G (p.Gln93=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2980388	NM_000397.4(CYBB):c.805-12C>T	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2978228	NM_000397.4(CYBB):c.846T>C (p.Cys282=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2976747	NM_000397.4(CYBB):c.141+18C>G	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2975252	NM_000397.4(CYBB):c.674+14T>C	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2967432	NM_000397.4(CYBB):c.484-11A>G	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2963242	NM_000397.4(CYBB):c.1586+13T>C	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2957629	NM_000397.4(CYBB):c.337+15G>T	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2954663	NM_000397.4(CYBB):c.45+20A>G	CYBB, LOC130068093	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2917570	NM_000397.4(CYBB):c.483+13T>A	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GBenign
Select item 2916881	NM_000397.4(CYBB):c.1645C>G (p.Gln549Glu)	CYBB (Q549E)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, X-linked	GUncertain significance
Select item 2916124	NM_000397.4(CYBB):c.1152-19C>T	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2915785	NM_000397.4(CYBB):c.1461+6G>T	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GUncertain significance
Select item 2915597	NM_000397.4(CYBB):c.1314+12C>A	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2914899	NM_000397.4(CYBB):c.141+20C>T	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2913643	NM_000397.4(CYBB):c.1587-12C>G	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2912170	NM_000397.4(CYBB):c.253-12C>T	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2911430	NM_000397.4(CYBB):c.727G>C (p.Val243Leu)	CYBB (V243L)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2909947	NM_000397.4(CYBB):c.60G>A (p.Gly20=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GBenign
Select item 2907878	NM_000397.4(CYBB):c.1152-16C>T	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GBenign
Select item 2907139	NM_000397.4(CYBB):c.805-10_805-9del	CYBB	Microsatellite (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2902226	NM_000397.4(CYBB):c.804+19T>A	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2900235	NM_000397.4(CYBB):c.804+15T>A	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2898639	NM_000397.4(CYBB):c.897+20T>C	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2897552	NM_000397.4(CYBB):c.1020T>C (p.Phe340=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2897551	NM_000397.4(CYBB):c.898-4A>G	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2897550	NM_000397.4(CYBB):c.520T>C (p.Leu174=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GBenign
Select item 2893200	NM_000397.4(CYBB):c.1151+17T>C	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2890878	NM_000397.4(CYBB):c.1152-20T>G	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2883785	NM_000397.4(CYBB):c.338-16T>C	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2876279	NM_000397.4(CYBB):c.195G>T (p.Met65Ile)	CYBB (M65I)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, X-linked	GUncertain significance
Select item 2876027	NM_000397.4(CYBB):c.1024C>T (p.Leu342=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2869998	NM_000397.4(CYBB):c.1151+14A>G	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2867702	NM_000397.4(CYBB):c.898-15T>A	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2867207	NM_000397.4(CYBB):c.1152-12del	CYBB	Deletion (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2865146	NM_000397.4(CYBB):c.517C>T (p.Leu173=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2862672	NM_000397.4(CYBB):c.897+7A>C	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2856129	NM_000397.4(CYBB):c.813A>G (p.Lys271=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2856014	NM_000397.4(CYBB):c.1587-9T>C	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2855551	NM_000397.4(CYBB):c.853T>C (p.Leu285=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2854159	NM_000397.4(CYBB):c.674+16C>T	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2851865	NM_000397.4(CYBB):c.1416C>A (p.Gly472=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2850514	NM_000397.4(CYBB):c.1035C>T (p.Ala345=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2846548	NM_000397.4(CYBB):c.876A>G (p.Gln292=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2839646	NM_000397.4(CYBB):c.525dup (p.Gly176fs)	CYBB (G176fs)	Duplication (frameshift variant)	Granulomatous disease, chronic, X-linked	GPathogenic
Select item 2833488	NM_000397.4(CYBB):c.338-18C>A	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2828601	NM_000397.4(CYBB):c.357T>C (p.His119=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2827252	NM_000397.4(CYBB):c.972C>T (p.Tyr324=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2826103	NM_000397.4(CYBB):c.1089G>A (p.Glu363=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2824244	NM_000397.4(CYBB):c.1590C>A (p.Thr530=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2822743	NM_000397.4(CYBB):c.33C>T (p.Ser11=)	CYBB, LOC130068093	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2822363	NM_000397.4(CYBB):c.675-1157A>C	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2815794	NM_000397.4(CYBB):c.1266A>C (p.Ser422=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2815503	NM_000397.4(CYBB):c.1308C>G (p.Leu436=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2811466	NM_000397.4(CYBB):c.118T>A (p.Phe40Ile)	CYBB (F40I)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, X-linked	GUncertain significance
Select item 2809900	NM_000397.4(CYBB):c.39T>C (p.Phe13=)	CYBB, LOC130068093	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2809842	NM_000397.4(CYBB):c.1081T>A (p.Trp361Arg)	CYBB (W361R)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, X-linked	GLikely pathogenic
Select item 2807209	NM_000397.4(CYBB):c.253-20C>A	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2801407	NM_000397.4(CYBB):c.484-15G>T	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2800664	NM_000397.4(CYBB):c.17T>C (p.Val6Ala)	CYBB (V6A)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, X-linked	GUncertain significance
Select item 2797244	NM_000397.4(CYBB):c.675-14C>T	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2795202	NM_000397.4(CYBB):c.838T>C (p.Tyr280His)	CYBB (Y280H)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, X-linked	GUncertain significance
Select item 2794376	NM_000397.4(CYBB):c.1586+14C>T	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2786083	NM_000397.4(CYBB):c.1411G>A (p.Ala471Thr)	CYBB (A471T)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, X-linked	GUncertain significance
Select item 2781497	NM_000397.4(CYBB):c.21T>C (p.Asn7=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2777632	NM_000397.4(CYBB):c.252+14T>A	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2776097	NM_000397.4(CYBB):c.1151+9_1151+10insTA	CYBB	Insertion (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2776046	NM_000397.4(CYBB):c.1008G>A (p.Glu336=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2772926	NM_000397.4(CYBB):c.975T>C (p.Ile325=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2771312	NM_000397.4(CYBB):c.1314+20G>T	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2770260	NM_000397.4(CYBB):c.231C>T (p.Ser77=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2765307	NM_000397.4(CYBB):c.620A>G (p.Tyr207Cys)	CYBB (Y207C)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, X-linked	GUncertain significance
Select item 2764187	NM_000397.4(CYBB):c.1315-9del	CYBB	Deletion (intron variant)	Granulomatous disease, chronic, X-linked	GBenign
Select item 2761923	NM_000397.4(CYBB):c.337+18A>C	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2759086	NM_000397.4(CYBB):c.804+8C>T	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2756420	NM_000397.4(CYBB):c.253-11T>A	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2756336	NM_000397.4(CYBB):c.1532A>G (p.Tyr511Cys)	CYBB (Y511C)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, X-linked	GUncertain significance
Select item 2755118	NM_000397.4(CYBB):c.6G>A (p.Gly2=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2753001	NM_000397.4(CYBB):c.804+16T>C	CYBB	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2752293	NM_000397.4(CYBB):c.726A>C (p.Thr242=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2751201	NM_000397.4(CYBB):c.1713A>G (p.Ter571=)	CYBB	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, X-linked	GLikely benign
Select item 2750879	NM_000397.4(CYBB):c.675-15dup	CYBB	Duplication (intron variant)	Granulomatous disease, chronic, X-linked	GLikely benign

<< First< Prev

Page of 6