ClinVar for MedGen (Select 383872) - ClinVar - NCBI

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

Result Filters

Links from MedGen

Items: 1 to 100 of 341

<< First< Prev

Page of 4

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24223621.	NC_000016.9:g.(?_87636753)_(90109753_?)dup GRCh37: Chr16:87636753-90109753	FANCA, MC1R, GALNS, GAS8, GAS8-AS1, IL17C, JPH3, KLHDC4, LOC101927817, ACSF3, ANKRD11, APRT, BANP, CA5A, CBFA2T3, CDH15, CDK10, CDT1, CENPBD1, CHMP1A, CPNE7, CTU2, CYBA, DBNDD1, DEF8, DPEP1, MVD, PABPN1L, PIEZO1, RNF166, RPL13, SLC22A31, SLC7A5, SNAI3, SPATA2L, SPATA33, SPG7, SPIRE2, TCF25, TRAPPC2L, TUBB3, VPS9D1, ZC3H18, ZFPM1, ZNF276, ZNF469, ZNF778		Primary ciliary dyskinesia 33, Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Uncertain significance (Apr 4, 2022)	criteria provided, single submitter
Select item 24197512.	NM_000101.4(CYBA):c.541G>C (p.Gly181Arg) GRCh37: Chr16:88709808 GRCh38: Chr16:88643400	CYBA	G181R	Inborn genetic diseases, Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Uncertain significance (May 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 24167813.	NM_000101.4(CYBA):c.167G>A (p.Arg56Gln) GRCh37: Chr16:88713545 GRCh38: Chr16:88647137	CYBA	R56Q	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 22014874.	NM_000101.4(CYBA):c.204-17C>T GRCh37: Chr16:88713263 GRCh38: Chr16:88646855	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 21993845.	NM_000101.4(CYBA):c.204-19G>A GRCh37: Chr16:88713265 GRCh38: Chr16:88646857	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 21902306.	NM_000101.4(CYBA):c.479C>T (p.Pro160Leu) GRCh37: Chr16:88709870 GRCh38: Chr16:88643462	CYBA	P160L	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 21762327.	NM_000101.4(CYBA):c.350C>A (p.Ala117Glu) GRCh37: Chr16:88712543 GRCh38: Chr16:88646135	CYBA	A117E	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Uncertain significance (Jan 2, 2022)	criteria provided, single submitter
Select item 21738538.	NM_000101.4(CYBA):c.184G>A (p.Gly62Ser) GRCh37: Chr16:88713528 GRCh38: Chr16:88647120	CYBA	G62S	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 21733779.	NM_000101.4(CYBA):c.425C>G (p.Pro142Arg) GRCh37: Chr16:88709924 GRCh38: Chr16:88643516	CYBA	P142R	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 217107310.	NM_000101.4(CYBA):c.179A>G (p.Lys60Arg) GRCh37: Chr16:88713533 GRCh38: Chr16:88647125	CYBA	K60R	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 216920411.	NM_000101.4(CYBA):c.235C>T (p.Leu79=) GRCh37: Chr16:88713215 GRCh38: Chr16:88646807	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Jun 28, 2022)	criteria provided, single submitter
Select item 216666912.	NM_000101.4(CYBA):c.34G>A (p.Glu12Lys) GRCh37: Chr16:88717388 GRCh38: Chr16:88650980	CYBA	E12K	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 216591513.	NM_000101.4(CYBA):c.566C>T (p.Pro189Leu) GRCh37: Chr16:88709783 GRCh38: Chr16:88643375	CYBA	P189L	not provided, Inborn genetic diseases, Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Uncertain significance (Jul 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 216226714.	NM_000101.4(CYBA):c.370-11G>A GRCh37: Chr16:88709990 GRCh38: Chr16:88643582	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Uncertain significance (Oct 1, 2022)	criteria provided, single submitter
Select item 216143515.	NM_000101.4(CYBA):c.355G>A (p.Gly119Ser) GRCh37: Chr16:88712538 GRCh38: Chr16:88646130	CYBA	G119S	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Uncertain significance (Nov 16, 2021)	criteria provided, single submitter
Select item 215657216.	NM_000101.4(CYBA):c.241G>A (p.Gly81Arg) GRCh37: Chr16:88713209 GRCh38: Chr16:88646801	CYBA	G81R	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 215478617.	NM_000101.4(CYBA):c.287+13C>T GRCh37: Chr16:88713150 GRCh38: Chr16:88646742	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Sep 30, 2022)	criteria provided, single submitter
Select item 215019518.	NM_000101.4(CYBA):c.287+16G>A GRCh37: Chr16:88713147 GRCh38: Chr16:88646739	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (May 8, 2022)	criteria provided, single submitter
Select item 214936919.	NM_000101.4(CYBA):c.488C>A (p.Ala163Asp) GRCh37: Chr16:88709861 GRCh38: Chr16:88643453	CYBA	A163D	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 214631820.	NM_000101.4(CYBA):c.229G>A (p.Val77Met) GRCh37: Chr16:88713221 GRCh38: Chr16:88646813	CYBA	V77M	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 214424621.	NM_000101.4(CYBA):c.203+18C>G GRCh37: Chr16:88713491 GRCh38: Chr16:88647083	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Jan 11, 2022)	criteria provided, single submitter
Select item 214281022.	NM_000101.4(CYBA):c.254G>C (p.Arg85Thr) GRCh37: Chr16:88713196 GRCh38: Chr16:88646788	CYBA	R85T	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 214170323.	NM_000101.4(CYBA):c.116G>C (p.Gly39Ala) GRCh37: Chr16:88714465 GRCh38: Chr16:88648057	CYBA	G39A	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Uncertain significance (Feb 5, 2022)	criteria provided, single submitter
Select item 214008724.	NM_000101.4(CYBA):c.504C>T (p.Ser168=) GRCh37: Chr16:88709845 GRCh38: Chr16:88643437	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 213785725.	NM_000101.4(CYBA):c.136G>A (p.Gly46Ser) GRCh37: Chr16:88713576 GRCh38: Chr16:88647168	CYBA	G46S	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Uncertain significance (May 15, 2022)	criteria provided, single submitter
Select item 213785626.	NM_000101.4(CYBA):c.287+1G>T GRCh37: Chr16:88713162 GRCh38: Chr16:88646754	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Pathogenic (Apr 28, 2022)	criteria provided, single submitter
Select item 213785527.	NM_000101.4(CYBA):c.288G>T (p.Leu96=) GRCh37: Chr16:88712605 GRCh38: Chr16:88646197	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Uncertain significance (Apr 26, 2022)	criteria provided, single submitter
Select item 213785328.	NM_000101.4(CYBA):c.295_301del (p.Val99fs) GRCh37: Chr16:88712592-88712598 GRCh38: Chr16:88646184-88646190	CYBA	V99fs	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Pathogenic/Likely pathogenic (Dec 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 211776929.	NM_000101.4(CYBA):c.225C>A (p.Ala75=) GRCh37: Chr16:88713225 GRCh38: Chr16:88646817	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 210735930.	NM_000101.4(CYBA):c.279G>T (p.Leu93=) GRCh37: Chr16:88713171 GRCh38: Chr16:88646763	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Mar 6, 2022)	criteria provided, single submitter
Select item 210664731.	NM_000101.4(CYBA):c.482_483insGAGGGGGCCCCCGGCGAGGGGGCCCCCGG (p.Glu162fs) GRCh37: Chr16:88709866-88709867 GRCh38: Chr16:88643458-88643459	CYBA	E162fs	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 210439232.	NM_000101.4(CYBA):c.365T>C (p.Leu122Pro) GRCh37: Chr16:88712528 GRCh38: Chr16:88646120	CYBA	L122P	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 209898833.	NM_000101.4(CYBA):c.288-1G>T GRCh37: Chr16:88712606 GRCh38: Chr16:88646198	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely pathogenic (Oct 14, 2022)	criteria provided, single submitter
Select item 209357934.	NM_000101.4(CYBA):c.574G>T (p.Asp192Tyr) GRCh37: Chr16:88709775 GRCh38: Chr16:88643367	CYBA	D192Y	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Uncertain significance (Feb 5, 2022)	criteria provided, single submitter
Select item 209149035.	NM_000101.4(CYBA):c.411G>A (p.Lys137=) GRCh37: Chr16:88709938 GRCh38: Chr16:88643530	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (May 30, 2022)	criteria provided, single submitter
Select item 208879336.	NM_000101.4(CYBA):c.171G>A (p.Gly57=) GRCh37: Chr16:88713541 GRCh38: Chr16:88647133	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Jan 21, 2022)	criteria provided, single submitter
Select item 208838637.	NM_000101.4(CYBA):c.147G>A (p.Val49=) GRCh37: Chr16:88713565 GRCh38: Chr16:88647157	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Jan 28, 2022)	criteria provided, single submitter
Select item 207836138.	NM_000101.4(CYBA):c.303C>G (p.Ala101=) GRCh37: Chr16:88712590 GRCh38: Chr16:88646182	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Jan 11, 2022)	criteria provided, single submitter
Select item 207412739.	NM_000101.4(CYBA):c.283C>G (p.Leu95Val) GRCh37: Chr16:88713167 GRCh38: Chr16:88646759	CYBA	L95V	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 207008740.	NM_000101.4(CYBA):c.267del (p.Arg90fs) GRCh37: Chr16:88713183 GRCh38: Chr16:88646775	CYBA	R90fs	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Pathogenic (Sep 14, 2022)	criteria provided, single submitter
Select item 203160441.	NM_000101.4(CYBA):c.59-17C>T GRCh37: Chr16:88714539 GRCh38: Chr16:88648131	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Sep 21, 2022)	criteria provided, single submitter
Select item 203107642.	NM_000101.4(CYBA):c.363C>T (p.Tyr121=) GRCh37: Chr16:88712530 GRCh38: Chr16:88646122	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Sep 18, 2022)	criteria provided, single submitter
Select item 202896543.	NM_000101.4(CYBA):c.108G>A (p.Trp36Ter) GRCh37: Chr16:88714473 GRCh38: Chr16:88648065	CYBA	W36*	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Pathogenic (Sep 4, 2022)	criteria provided, single submitter
Select item 202592944.	NM_000101.4(CYBA):c.370-17C>A GRCh37: Chr16:88709996 GRCh38: Chr16:88643588	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 200675045.	NM_000101.4(CYBA):c.287+7C>T GRCh37: Chr16:88713156 GRCh38: Chr16:88646748	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Aug 1, 2022)	criteria provided, single submitter
Select item 200596746.	NM_000101.4(CYBA):c.180G>A (p.Lys60=) GRCh37: Chr16:88713532 GRCh38: Chr16:88647124	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 200171247.	NM_000101.4(CYBA):c.258T>C (p.Asn86=) GRCh37: Chr16:88713192 GRCh38: Chr16:88646784	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Jun 1, 2022)	criteria provided, single submitter
Select item 198708448.	NM_000101.4(CYBA):c.120C>T (p.Ala40=) GRCh37: Chr16:88714461 GRCh38: Chr16:88648053	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Mar 2, 2022)	criteria provided, single submitter
Select item 198356349.	NM_000101.4(CYBA):c.539dup (p.Gly182fs) GRCh37: Chr16:88709809-88709810 GRCh38: Chr16:88643401-88643402	CYBA	G182fs	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Uncertain significance (Nov 16, 2020)	criteria provided, single submitter
Select item 197800550.	NM_000101.4(CYBA):c.45G>A (p.Leu15=) GRCh37: Chr16:88717377 GRCh38: Chr16:88650969	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Apr 2, 2022)	criteria provided, single submitter
Select item 197731451.	NM_000101.4(CYBA):c.467dup (p.Pro157fs) GRCh37: Chr16:88709881-88709882 GRCh38: Chr16:88643473-88643474	CYBA	P157fs	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Uncertain significance (Jun 18, 2022)	criteria provided, single submitter
Select item 196771352.	NM_000101.4(CYBA):c.68_76del (p.Thr23_Gly25del) GRCh37: Chr16:88714505-88714513 GRCh38: Chr16:88648097-88648105	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Pathogenic (Jun 29, 2022)	criteria provided, single submitter
Select item 195963753.	NM_000101.4(CYBA):c.398C>G (p.Pro133Arg) GRCh37: Chr16:88709951 GRCh38: Chr16:88643543	CYBA	P133R	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Uncertain significance (Oct 18, 2022)	criteria provided, single submitter
Select item 193569754.	NM_000101.4(CYBA):c.288-7C>G GRCh37: Chr16:88712612 GRCh38: Chr16:88646204	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Uncertain significance (Aug 22, 2021)	criteria provided, single submitter
Select item 191999755.	NM_000101.4(CYBA):c.204-7C>T GRCh37: Chr16:88713253 GRCh38: Chr16:88646845	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Sep 9, 2022)	criteria provided, single submitter
Select item 191041856.	NM_000101.4(CYBA):c.379C>T (p.Arg127Cys) GRCh37: Chr16:88709970 GRCh38: Chr16:88643562	CYBA	R127C	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 189667357.	NM_000101.4(CYBA):c.370-8C>T GRCh37: Chr16:88709987 GRCh38: Chr16:88643579	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Dec 23, 2021)	criteria provided, single submitter
Select item 169608158.	NM_000101.4(CYBA):c.433G>A (p.Gly145Arg) GRCh37: Chr16:88709916 GRCh38: Chr16:88643508	CYBA	G145R	not specified, Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Conflicting interpretations of pathogenicity (May 24, 2022)	criteria provided, conflicting interpretations
Select item 167350459.	NM_000101.4(CYBA):c.288-13C>T GRCh37: Chr16:88712618 GRCh38: Chr16:88646210	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Aug 13, 2022)	criteria provided, single submitter
Select item 167112060.	NM_000101.4(CYBA):c.99C>T (p.Phe33=) GRCh37: Chr16:88714482 GRCh38: Chr16:88648074	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Jul 13, 2021)	criteria provided, single submitter
Select item 166718161.	NM_000101.4(CYBA):c.204-9_204-3dup GRCh37: Chr16:88713248-88713249 GRCh38: Chr16:88646840-88646841	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Nov 15, 2021)	criteria provided, single submitter
Select item 166424062.	NM_000101.4(CYBA):c.528G>C (p.Ala176=) GRCh37: Chr16:88709821 GRCh38: Chr16:88643413	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 166363163.	NM_000101.4(CYBA):c.154C>T (p.Leu52=) GRCh37: Chr16:88713558 GRCh38: Chr16:88647150	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 166253164.	NM_000101.4(CYBA):c.141G>C (p.Val47=) GRCh37: Chr16:88713571 GRCh38: Chr16:88647163	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Nov 2, 2021)	criteria provided, single submitter
Select item 165968365.	NM_000101.4(CYBA):c.396G>A (p.Thr132=) GRCh37: Chr16:88709953 GRCh38: Chr16:88643545	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 165921566.	NM_000101.4(CYBA):c.153G>A (p.Leu51=) GRCh37: Chr16:88713559 GRCh38: Chr16:88647151	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (May 17, 2021)	criteria provided, single submitter
Select item 165870167.	NM_000101.4(CYBA):c.42G>C (p.Ala14=) GRCh37: Chr16:88717380 GRCh38: Chr16:88650972	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Dec 4, 2020)	criteria provided, single submitter
Select item 165556568.	NM_000101.4(CYBA):c.384C>G (p.Gly128=) GRCh37: Chr16:88709965 GRCh38: Chr16:88643557	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Nov 25, 2020)	criteria provided, single submitter
Select item 164770169.	NM_000101.4(CYBA):c.381T>G (p.Arg127=) GRCh37: Chr16:88709968 GRCh38: Chr16:88643560	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Jun 26, 2022)	criteria provided, single submitter
Select item 163974370.	NM_000101.4(CYBA):c.51C>T (p.Ser17=) GRCh37: Chr16:88717371 GRCh38: Chr16:88650963	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 163946471.	NM_000101.4(CYBA):c.287+9C>T GRCh37: Chr16:88713154 GRCh38: Chr16:88646746	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 163915972.	NM_000101.4(CYBA):c.387G>A (p.Glu129=) GRCh37: Chr16:88709962 GRCh38: Chr16:88643554	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Sep 29, 2022)	criteria provided, single submitter
Select item 163612573.	NM_000101.4(CYBA):c.186C>T (p.Gly62=) GRCh37: Chr16:88713526 GRCh38: Chr16:88647118	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Feb 25, 2021)	criteria provided, single submitter
Select item 163437274.	NM_000101.4(CYBA):c.369+18A>G GRCh37: Chr16:88712506 GRCh38: Chr16:88646098	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Feb 5, 2022)	criteria provided, single submitter
Select item 162968875.	NM_000101.4(CYBA):c.537C>T (p.Pro179=) GRCh37: Chr16:88709812 GRCh38: Chr16:88643404	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 162905376.	NM_000101.4(CYBA):c.51C>G (p.Ser17=) GRCh37: Chr16:88717371 GRCh38: Chr16:88650963	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Jun 24, 2021)	criteria provided, single submitter
Select item 162614377.	NM_000101.4(CYBA):c.222C>T (p.Thr74=) GRCh37: Chr16:88713228 GRCh38: Chr16:88646820	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Dec 25, 2020)	criteria provided, single submitter
Select item 162302078.	NM_000101.4(CYBA):c.204-11C>G GRCh37: Chr16:88713257 GRCh38: Chr16:88646849	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Jul 26, 2022)	criteria provided, single submitter
Select item 162257179.	NM_000101.4(CYBA):c.59-20dup GRCh37: Chr16:88714541-88714542 GRCh38: Chr16:88648133-88648134	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (May 10, 2021)	criteria provided, single submitter
Select item 162120080.	NM_000101.4(CYBA):c.59-13C>A GRCh37: Chr16:88714535 GRCh38: Chr16:88648127	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Sep 24, 2021)	criteria provided, single submitter
Select item 161375081.	NM_000101.4(CYBA):c.399C>G (p.Pro133=) GRCh37: Chr16:88709950 GRCh38: Chr16:88643542	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 160744182.	NM_000101.4(CYBA):c.78C>T (p.Ile26=) GRCh37: Chr16:88714503 GRCh38: Chr16:88648095	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 160738883.	NM_000101.4(CYBA):c.162C>T (p.Tyr54=) GRCh37: Chr16:88713550 GRCh38: Chr16:88647142	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Oct 20, 2022)	criteria provided, single submitter
Select item 160487584.	NM_000101.4(CYBA):c.370-20A>C GRCh37: Chr16:88709999 GRCh38: Chr16:88643591	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Jul 18, 2022)	criteria provided, single submitter
Select item 159384785.	NM_000101.4(CYBA):c.369+9C>T GRCh37: Chr16:88712515 GRCh38: Chr16:88646107	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 158351286.	NM_000101.4(CYBA):c.96C>G (p.Arg32=) GRCh37: Chr16:88714485 GRCh38: Chr16:88648077	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Nov 26, 2021)	criteria provided, single submitter
Select item 157296387.	NM_000101.4(CYBA):c.300C>T (p.Pro100=) GRCh37: Chr16:88712593 GRCh38: Chr16:88646185	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Mar 9, 2022)	criteria provided, single submitter
Select item 156600288.	NM_000101.4(CYBA):c.204-10C>G GRCh37: Chr16:88713256 GRCh38: Chr16:88646848	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Jun 14, 2021)	criteria provided, single submitter
Select item 156241889.	NM_000101.4(CYBA):c.522G>A (p.Val174=) GRCh37: Chr16:88709827 GRCh38: Chr16:88643419	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Nov 13, 2021)	criteria provided, single submitter
Select item 155890390.	NM_000101.4(CYBA):c.153G>C (p.Leu51=) GRCh37: Chr16:88713559 GRCh38: Chr16:88647151	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Nov 25, 2021)	criteria provided, single submitter
Select item 155867491.	NM_000101.4(CYBA):c.129-10A>G GRCh37: Chr16:88713593 GRCh38: Chr16:88647185	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 155706492.	NM_000101.4(CYBA):c.58+13C>A GRCh37: Chr16:88717351 GRCh38: Chr16:88650943	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 155639493.	NM_000101.4(CYBA):c.123C>T (p.Tyr41=) GRCh37: Chr16:88714458 GRCh38: Chr16:88648050	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 155298994.	NM_000101.4(CYBA):c.573C>T (p.Thr191=) GRCh37: Chr16:88709776 GRCh38: Chr16:88643368	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 155047495.	NM_000101.4(CYBA):c.58+10C>T GRCh37: Chr16:88717354 GRCh38: Chr16:88650946	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 154747896.	NM_000101.4(CYBA):c.15G>A (p.Glu5=) GRCh37: Chr16:88717407 GRCh38: Chr16:88650999	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Apr 13, 2021)	criteria provided, single submitter
Select item 154510797.	NM_000101.4(CYBA):c.129-11C>A GRCh37: Chr16:88713594 GRCh38: Chr16:88647186	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Mar 27, 2021)	criteria provided, single submitter
Select item 153821798.	NM_000101.4(CYBA):c.555C>A (p.Val185=) GRCh37: Chr16:88709794 GRCh38: Chr16:88643386	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Mar 2, 2021)	criteria provided, single submitter
Select item 153732799.	NM_000101.4(CYBA):c.204-20C>T GRCh37: Chr16:88713266 GRCh38: Chr16:88646858	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Sep 10, 2022)	criteria provided, single submitter
Select item 1536812100.	NM_000101.4(CYBA):c.360C>T (p.Ile120=) GRCh37: Chr16:88712533 GRCh38: Chr16:88646125	CYBA		Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Likely benign (Feb 23, 2021)	criteria provided, single submitter

<< First< Prev

Page of 4