ClinVar for MedGen (Select 341214) - ClinVar

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

Result Filters

Links from MedGen

Items: 49

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 16872041.	NM_004278.4(PIGL):c.262C>G (p.Arg88Gly) GRCh37: Chr17:16137311 GRCh38: Chr17:16233997	PIGL	R88G	CHIME syndrome	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 15262522.	NM_004278.4(PIGL):c.154_161del (p.Asp52fs) GRCh37: Chr17:16120693-16120700 GRCh38: Chr17:16217379-16217386	PIGL	D52fs	CHIME syndrome	Likely pathogenic (Mar 22, 2022)	criteria provided, single submitter
Select item 13415133.	NM_004278.4(PIGL):c.438C>A (p.Phe146Leu) GRCh37: Chr17:16216872 GRCh38: Chr17:16313558	PIGL	F146L	not provided	Likely pathogenic (Apr 13, 2023)	criteria provided, single submitter
Select item 13388514.	NM_004278.4(PIGL):c.660+1G>T GRCh37: Chr17:16221223 GRCh38: Chr17:16317909	PIGL		CHIME syndrome	Likely pathogenic (Jan 27, 2022)	criteria provided, single submitter
Select item 13249075.	NM_004278.4(PIGL):c.494+1G>A GRCh37: Chr17:16216929 GRCh38: Chr17:16313615	PIGL		CHIME syndrome	Likely pathogenic (Jan 22, 2019)	criteria provided, single submitter
Select item 10313986.	NM_004278.4(PIGL):c.296T>G (p.Leu99Trp) GRCh37: Chr17:16137345 GRCh38: Chr17:16234031	PIGL	L99W	CHIME syndrome	Uncertain significance (Sep 5, 2018)	criteria provided, single submitter
Select item 9316577.	NM_004278.4(PIGL):c.725G>C (p.Arg242Pro) GRCh37: Chr17:16229178 GRCh38: Chr17:16325864	PIGL	R242P	CHIME syndrome, not provided	Uncertain significance (Aug 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 8918248.	NM_004278.4(PIGL):c.398A>G (p.Gln133Arg) GRCh37: Chr17:16203264 GRCh38: Chr17:16299950	PIGL	Q133R	CHIME syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8918239.	NM_004278.4(PIGL):c.130C>T (p.Leu44=) GRCh37: Chr17:16120670 GRCh38: Chr17:16217356	PIGL		CHIME syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89007110.	NM_004278.4(PIGL):c.*364G>A GRCh37: Chr17:16229576 GRCh38: Chr17:16326262	PIGL		CHIME syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89007011.	NM_004278.4(PIGL):c.*318C>A GRCh37: Chr17:16229530 GRCh38: Chr17:16326216	PIGL		CHIME syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89006912.	NM_004278.4(PIGL):c.*182A>G GRCh37: Chr17:16229394 GRCh38: Chr17:16326080	PIGL		CHIME syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 88938113.	NM_004278.4(PIGL):c.724C>T (p.Arg242Trp) GRCh37: Chr17:16229177 GRCh38: Chr17:16325863	PIGL	R242W	CHIME syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88938014.	NM_004278.4(PIGL):c.535G>T (p.Val179Leu) GRCh37: Chr17:16221097 GRCh38: Chr17:16317783	PIGL	V179L	CHIME syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 63845215.	NM_004278.4(PIGL):c.263G>A (p.Arg88His) GRCh37: Chr17:16137312 GRCh38: Chr17:16233998	PIGL	R88H	not provided, CHIME syndrome	Uncertain significance (Aug 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 63226816.	NM_004278.4(PIGL):c.336-2A>G GRCh37: Chr17:16203200 GRCh38: Chr17:16299886	PIGL		CHIME syndrome, not provided	Conflicting interpretations of pathogenicity (Apr 28, 2022)	criteria provided, conflicting interpretations
Select item 37417517.	NM_004278.4(PIGL):c.176C>A (p.Pro59His) GRCh37: Chr17:16120716 GRCh38: Chr17:16217402	PIGL	P59H	CHIME syndrome, Hypertelorism, Camptodactyly of finger, Premature birth, Wide intermamillary distance, Low-set ears, Bilateral cleft lip and palate, Postaxial hand polydactyly, Hypoplasia of scrotum	Uncertain significance (Jan 1, 2016)	criteria provided, single submitter
Select item 32199518.	NM_004278.4(PIGL):c.*324A>G GRCh37: Chr17:16229536 GRCh38: Chr17:16326222	PIGL		Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome, CHIME syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32199419.	NM_004278.4(PIGL):c.*254T>C GRCh37: Chr17:16229466 GRCh38: Chr17:16326152	PIGL		Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome, not provided, CHIME syndrome	Conflicting interpretations of pathogenicity (Oct 29, 2019)	criteria provided, conflicting interpretations
Select item 32199320.	NM_004278.4(PIGL):c.*185A>C GRCh37: Chr17:16229397 GRCh38: Chr17:16326083	PIGL		Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome, CHIME syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32199221.	NM_004278.4(PIGL):c.*184A>C GRCh37: Chr17:16229396 GRCh38: Chr17:16326082	PIGL		Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome, CHIME syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32199122.	NM_004278.4(PIGL):c.*86A>G GRCh37: Chr17:16229298 GRCh38: Chr17:16325984	PIGL		Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome, not provided, CHIME syndrome	Benign/Likely benign (Jun 17, 2019)	criteria provided, multiple submitters, no conflicts
Select item 32199023.	NM_004278.4(PIGL):c.*20A>G GRCh37: Chr17:16229232 GRCh38: Chr17:16325918	PIGL		Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome, not provided, CHIME syndrome	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 32198924.	NM_004278.4(PIGL):c.542C>T (p.Thr181Met) GRCh37: Chr17:16221104 GRCh38: Chr17:16317790	PIGL	T181M	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome, not provided, CHIME syndrome	Uncertain significance (Jun 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32198825.	NM_004278.4(PIGL):c.446G>C (p.Gly149Ala) GRCh37: Chr17:16216880 GRCh38: Chr17:16313566	PIGL	G149A	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome, CHIME syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32198726.	NM_004278.4(PIGL):c.420C>T (p.Ile140=) GRCh37: Chr17:16203286 GRCh38: Chr17:16299972	PIGL		Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome, CHIME syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32198627.	NM_004278.4(PIGL):c.258_259del (p.Glu86fs) GRCh37: Chr17:16137303-16137304 GRCh38: Chr17:16233989-16233990	PIGL	E86fs	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome, CHIME syndrome	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 15971828.	NM_004278.4(PIGL):c.652C>G (p.Gln218Glu) GRCh37: Chr17:16221214 GRCh38: Chr17:16317900	PIGL	Q218E	CHIME syndrome	Uncertain significance (Feb 8, 2013)	criteria provided, single submitter
Select item 15971729.	NM_004278.4(PIGL):c.627C>T (p.Phe209=) GRCh37: Chr17:16221189 GRCh38: Chr17:16317875	PIGL		not provided, CHIME syndrome	Conflicting interpretations of pathogenicity (Mar 21, 2022)	criteria provided, conflicting interpretations
Select item 15971630.	NM_004278.4(PIGL):c.595T>C (p.Leu199=) GRCh37: Chr17:16221157 GRCh38: Chr17:16317843	PIGL		not provided, CHIME syndrome	Conflicting interpretations of pathogenicity (Sep 6, 2022)	criteria provided, conflicting interpretations
Select item 15971531.	NM_004278.4(PIGL):c.540C>T (p.Leu180=) GRCh37: Chr17:16221102 GRCh38: Chr17:16317788	PIGL		CHIME syndrome	Uncertain significance (Feb 8, 2013)	criteria provided, single submitter
Select item 15971432.	NM_004278.4(PIGL):c.535G>A (p.Val179Met) GRCh37: Chr17:16221097 GRCh38: Chr17:16317783	PIGL	V179M	CHIME syndrome	Uncertain significance (Feb 8, 2013)	criteria provided, single submitter
Select item 15971333.	NM_004278.4(PIGL):c.534T>C (p.Ser178=) GRCh37: Chr17:16221096 GRCh38: Chr17:16317782	PIGL		CHIME syndrome	Uncertain significance (Mar 4, 2013)	criteria provided, single submitter
Select item 15971234.	NM_004278.4(PIGL):c.526+10G>A GRCh37: Chr17:16220036 GRCh38: Chr17:16316722	PIGL		Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome, not provided, CHIME syndrome	Conflicting interpretations of pathogenicity (Oct 4, 2022)	criteria provided, conflicting interpretations
Select item 15971135.	NM_004278.4(PIGL):c.4G>A (p.Glu2Lys) GRCh37: Chr17:16120544 GRCh38: Chr17:16217230	PIGL	E2K	not provided, CHIME syndrome	Uncertain significance (Aug 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 15971036.	NM_004278.4(PIGL):c.493A>C (p.Arg165=) GRCh37: Chr17:16216927 GRCh38: Chr17:16313613	PIGL		not provided, CHIME syndrome	Uncertain significance (Aug 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 15970937.	NM_004278.4(PIGL):c.480G>A (p.Leu160=) GRCh37: Chr17:16216914 GRCh38: Chr17:16313600	PIGL		CHIME syndrome	Uncertain significance (Feb 8, 2013)	criteria provided, single submitter
Select item 15970838.	NM_004278.4(PIGL):c.439G>A (p.Asp147Asn) GRCh37: Chr17:16216873 GRCh38: Chr17:16313559	PIGL	D147N	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome, Inborn genetic diseases, not provided, CHIME syndrome	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 15970739.	NM_004278.4(PIGL):c.426+8G>A GRCh37: Chr17:16203300 GRCh38: Chr17:16299986	PIGL		CHIME syndrome	Uncertain significance (Feb 8, 2013)	criteria provided, single submitter
Select item 15970640.	NM_004278.4(PIGL):c.426+14T>C GRCh37: Chr17:16203306 GRCh38: Chr17:16299992	PIGL		CHIME syndrome	Uncertain significance (Feb 8, 2013)	criteria provided, single submitter
Select item 15970541.	NM_004278.4(PIGL):c.424C>A (p.Leu142Met) GRCh37: Chr17:16203290 GRCh38: Chr17:16299976	PIGL	L142M	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome, not provided, CHIME syndrome, not specified	Conflicting interpretations of pathogenicity (Mar 1, 2023)	criteria provided, conflicting interpretations
Select item 15970442.	NM_004278.4(PIGL):c.354A>G (p.Pro118=) GRCh37: Chr17:16203220 GRCh38: Chr17:16299906	PIGL		CHIME syndrome, not provided	Conflicting interpretations of pathogenicity (Jul 6, 2022)	criteria provided, conflicting interpretations
Select item 15970343.	NM_004278.4(PIGL):c.337G>T (p.Asp113Tyr) GRCh37: Chr17:16203203 GRCh38: Chr17:16299889	PIGL	D113Y	not provided, CHIME syndrome	Conflicting interpretations of pathogenicity (Sep 21, 2022)	criteria provided, conflicting interpretations
Select item 15970244.	NM_004278.4(PIGL):c.30G>T (p.Ala10=) GRCh37: Chr17:16120570 GRCh38: Chr17:16217256	PIGL		CHIME syndrome	Uncertain significance (Feb 8, 2013)	criteria provided, single submitter
Select item 15970145.	NM_004278.4(PIGL):c.169T>C (p.Phe57Leu) GRCh37: Chr17:16120709 GRCh38: Chr17:16217395	PIGL	F57L	CHIME syndrome	Uncertain significance (Feb 8, 2013)	criteria provided, single submitter
Select item 3054746.	NM_004278.4(PIGL):c.427-1G>A GRCh37: Chr17:16216860 GRCh38: Chr17:16313546	PIGL		CHIME syndrome	Pathogenic (Apr 6, 2012)	no assertion criteria provided
Select item 3054647.	NM_004278.4(PIGL):c.652C>T (p.Gln218Ter) GRCh37: Chr17:16221214 GRCh38: Chr17:16317900	PIGL	Q218*	CHIME syndrome	Pathogenic (Apr 6, 2012)	no assertion criteria provided
Select item 3054548.	NM_004278.4(PIGL):c.274del (p.Leu92fs) GRCh37: Chr17:16137323 GRCh38: Chr17:16234009	PIGL	L92fs	CHIME syndrome	Pathogenic (Apr 6, 2012)	no assertion criteria provided
Select item 3054449.	NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) GRCh37: Chr17:16220000 GRCh38: Chr17:16316686	PIGL	L167P	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome, Inborn genetic diseases, not provided, CHIME syndrome, Postaxial hand polydactyly, Hypoplasia of scrotum, Bilateral cleft lip and palate, Low-set ears, Premature birth, Wide intermamillary distance, Camptodactyly of fingerHypertelorism, ...see more	Conflicting interpretations of pathogenicity (Sep 29, 2022)	criteria provided, conflicting interpretations

ClinVar

Result Filters

Clinical significance

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 49