ClinVar for MedGen (Select 347699) - ClinVar

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Items: 83

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24322541.	NM_013296.5(GPSM2):c.1941_1942del (p.Arg647fs) GRCh37: Chr1:109472444-109472445 GRCh38: Chr1:108929822-108929823	GPSM2, CLCC1	R647fs	Chudley-McCullough syndrome	Uncertain significance (Jul 24, 2020)	criteria provided, single submitter
Select item 14312752.	NM_013296.5(GPSM2):c.358G>A (p.Glu120Lys) GRCh37: Chr1:109440193 GRCh38: Chr1:108897571	GPSM2	E120K	not provided, Chudley-McCullough syndrome	Uncertain significance (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13332613.	NM_013296.5(GPSM2):c.1264-1G>T GRCh37: Chr1:109461234 GRCh38: Chr1:108918612	GPSM2		Chudley-McCullough syndrome	Likely pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 13245114.	NM_013296.5(GPSM2):c.1473_1474delinsAACC (p.Phe492fs) GRCh37: Chr1:109465071-109465072 GRCh38: Chr1:108922449-108922450	GPSM2	F492fs	Chudley-McCullough syndrome	Likely pathogenic (Dec 30, 2020)	criteria provided, single submitter
Select item 13245105.	NM_013296.5(GPSM2):c.1601-2A>G GRCh37: Chr1:109466620 GRCh38: Chr1:108923998	GPSM2		Chudley-McCullough syndrome	Likely pathogenic (Sep 3, 2021)	criteria provided, single submitter
Select item 12993156.	NM_013296.5(GPSM2):c.832C>T (p.Arg278Ter) GRCh37: Chr1:109444446 GRCh38: Chr1:108901824	GPSM2	R278*	Chudley-McCullough syndrome	Pathogenic (Aug 1, 2020)	criteria provided, single submitter
Select item 11951617.	NM_013296.5(GPSM2):c.1208T>C (p.Leu403Ser) GRCh37: Chr1:109456975 GRCh38: Chr1:108914353	GPSM2	L403S	Inborn genetic diseases, not provided, Chudley-McCullough syndrome	Uncertain significance (Nov 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 10646508.	NM_013296.5(GPSM2):c.858_859delinsGT (p.Tyr286_Ser287delinsTer) GRCh37: Chr1:109444472-109444473 GRCh38: Chr1:108901850-108901851	GPSM2		Chudley-McCullough syndrome	Likely pathogenic (Mar 30, 2021)	criteria provided, single submitter
Select item 8765039.	NM_013296.5(GPSM2):c.-453C>T GRCh37: Chr1:109419646 GRCh38: Chr1:108877024	GPSM2		Chudley-McCullough syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87559310.	NM_001377458.1(CLCC1):c.*2133A>G GRCh37: Chr1:109473036 GRCh38: Chr1:108930414	CLCC1, GPSM2		Chudley-McCullough syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87559211.	NM_001377458.1(CLCC1):c.*2248A>C GRCh37: Chr1:109472921 GRCh38: Chr1:108930299	CLCC1, GPSM2		Chudley-McCullough syndrome	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 87553312.	NM_013296.5(GPSM2):c.953+12G>A GRCh37: Chr1:109444579 GRCh38: Chr1:108901957	GPSM2		Chudley-McCullough syndrome	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 87553213.	NM_013296.5(GPSM2):c.807A>G (p.Leu269=) GRCh37: Chr1:109444421 GRCh38: Chr1:108901799	GPSM2		Chudley-McCullough syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87553114.	NM_013296.5(GPSM2):c.597G>A (p.Ala199=) GRCh37: Chr1:109441303 GRCh38: Chr1:108898681	GPSM2		Chudley-McCullough syndrome, not provided	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 87465015.	NM_001377458.1(CLCC1):c.*2256G>A GRCh37: Chr1:109472913 GRCh38: Chr1:108930291	CLCC1, GPSM2		Chudley-McCullough syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87464916.	NM_001377458.1(CLCC1):c.*2399T>C GRCh37: Chr1:109472770 GRCh38: Chr1:108930148	CLCC1, GPSM2		Chudley-McCullough syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87460917.	NM_013296.5(GPSM2):c.279-6T>C GRCh37: Chr1:109440108 GRCh38: Chr1:108897486	GPSM2		Chudley-McCullough syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87460818.	NM_013296.5(GPSM2):c.274G>A (p.Ala92Thr) GRCh37: Chr1:109439703 GRCh38: Chr1:108897081	GPSM2	A92T	Chudley-McCullough syndrome, not specified	Uncertain significance (Jan 12, 2018)	criteria provided, multiple submitters, no conflicts
Select item 87366819.	NM_001377458.1(CLCC1):c.*2856T>C GRCh37: Chr1:109472313 GRCh38: Chr1:108929691	CLCC1, GPSM2		Chudley-McCullough syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87366720.	NM_013296.5(GPSM2):c.1694G>A (p.Ser565Asn) GRCh37: Chr1:109466715 GRCh38: Chr1:108924093	GPSM2	S565N	Chudley-McCullough syndrome, not provided	Uncertain significance (Aug 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87366621.	NM_013296.5(GPSM2):c.1665G>C (p.Gln555His) GRCh37: Chr1:109466686 GRCh38: Chr1:108924064	GPSM2	Q555H	Chudley-McCullough syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87366522.	NM_013296.5(GPSM2):c.1472G>C (p.Gly491Ala) GRCh37: Chr1:109465070 GRCh38: Chr1:108922448	GPSM2	G491A	Inborn genetic diseases, Chudley-McCullough syndrome, not provided	Conflicting interpretations of pathogenicity (Jun 15, 2022)	criteria provided, conflicting interpretations
Select item 87360823.	NM_013296.5(GPSM2):c.-288C>A GRCh37: Chr1:109419811 GRCh38: Chr1:108877189	GPSM2		Chudley-McCullough syndrome	Uncertain significance (Mar 30, 2018)	criteria provided, single submitter
Select item 87360724.	NM_013296.5(GPSM2):c.-316C>T GRCh37: Chr1:109419783 GRCh38: Chr1:108877161	GPSM2		Chudley-McCullough syndrome	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 86486025.	NM_013296.5(GPSM2):c.1501del (p.Ser501fs) GRCh37: Chr1:109465097 GRCh38: Chr1:108922475	GPSM2	S501fs	Chudley-McCullough syndrome	Pathogenic/Likely pathogenic (Nov 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 73088326.	NM_013296.5(GPSM2):c.833G>A (p.Arg278Gln) GRCh37: Chr1:109444447 GRCh38: Chr1:108901825	GPSM2	R278Q	Chudley-McCullough syndrome, not provided	Conflicting interpretations of pathogenicity (Oct 15, 2022)	criteria provided, conflicting interpretations
Select item 68178427.	NM_013296.5(GPSM2):c.1815+22G>A GRCh37: Chr1:109466858 GRCh38: Chr1:108924236	GPSM2		not provided, Chudley-McCullough syndrome	Benign (Aug 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 63207728.	NM_013296.5(GPSM2):c.-248-1G>A GRCh37: Chr1:109427896 GRCh38: Chr1:108885274	GPSM2		Chudley-McCullough syndrome	Uncertain significance (Aug 22, 2018)	criteria provided, single submitter
Select item 61814629.	NM_013296.5(GPSM2):c.478G>C (p.Gly160Arg) GRCh37: Chr1:109440644 GRCh38: Chr1:108898022	GPSM2	G160R	Chudley-McCullough syndrome	Uncertain significance (Dec 5, 2018)	criteria provided, single submitter
Select item 58756830.	NM_013296.5(GPSM2):c.124G>A (p.Ala42Thr) GRCh37: Chr1:109439553 GRCh38: Chr1:108896931	GPSM2	A42T	Chudley-McCullough syndrome	Uncertain significance (Aug 7, 2018)	criteria provided, single submitter
Select item 52300931.	NM_013296.5(GPSM2):c.1546_1553del (p.Cys516fs) GRCh37: Chr1:109465142-109465149 GRCh38: Chr1:108922520-108922527	GPSM2	C516fs	Chudley-McCullough syndrome	Pathogenic (May 3, 2020)	criteria provided, single submitter
Select item 51719332.	NM_013296.5(GPSM2):c.1560AAC[2] (p.Thr523del) GRCh37: Chr1:109465157-109465159 GRCh38: Chr1:108922535-108922537	GPSM2	T523del	not provided, Chudley-McCullough syndrome, not specified	Benign/Likely benign (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 50675533.	NM_013296.5(GPSM2):c.1216C>T (p.Arg406Trp) GRCh37: Chr1:109456983 GRCh38: Chr1:108914361	GPSM2	R406W	Chudley-McCullough syndrome, not specified, not provided	Conflicting interpretations of pathogenicity (Oct 11, 2022)	criteria provided, conflicting interpretations
Select item 50541534.	NM_013296.5(GPSM2):c.1034C>G (p.Ala345Gly) GRCh37: Chr1:109445828 GRCh38: Chr1:108903206	GPSM2	A345G	Chudley-McCullough syndrome, not specified	Uncertain significance (Jan 13, 2018)	criteria provided, multiple submitters, no conflicts
Select item 50459135.	NM_013296.5(GPSM2):c.1492C>T (p.Arg498Ter) GRCh37: Chr1:109465090 GRCh38: Chr1:108922468	GPSM2	R498*	GPSM2-Related Disorders, Chudley-McCullough syndrome, Rare genetic deafness, not provided	Pathogenic/Likely pathogenic (Jan 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 40225836.	NM_013296.5(GPSM2):c.977G>A (p.Trp326Ter) GRCh37: Chr1:109445771 GRCh38: Chr1:108903149	GPSM2	W326*	Chudley-McCullough syndrome	Pathogenic (Aug 1, 2020)	criteria provided, single submitter
Select item 38657737.	NM_001377458.1(CLCC1):c.*2600A>G GRCh37: Chr1:109472569 GRCh38: Chr1:108929947	CLCC1, GPSM2		not provided, Chudley-McCullough syndrome	Conflicting interpretations of pathogenicity (Feb 4, 2021)	criteria provided, conflicting interpretations
Select item 29171738.	NM_001377458.1(CLCC1):c.*2139A>C GRCh37: Chr1:109473030 GRCh38: Chr1:108930408	CLCC1, GPSM2		Chudley-McCullough syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29171639.	NM_001377458.1(CLCC1):c.*2140C>A GRCh37: Chr1:109473029 GRCh38: Chr1:108930407	CLCC1, GPSM2		Chudley-McCullough syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29171440.	NM_001377458.1(CLCC1):c.*2152G>A GRCh37: Chr1:109473017 GRCh38: Chr1:108930395	GPSM2, CLCC1		Chudley-McCullough syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 29171341.	NM_001377458.1(CLCC1):c.*2285A>G GRCh37: Chr1:109472884 GRCh38: Chr1:108930262	CLCC1, GPSM2		Chudley-McCullough syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29171242.	NM_001377458.1(CLCC1):c.*2356A>G GRCh37: Chr1:109472813 GRCh38: Chr1:108930191	CLCC1, GPSM2		not provided, Chudley-McCullough syndrome	Benign (Jun 14, 2018)	criteria provided, multiple submitters, no conflicts
Select item 29171143.	NM_001377458.1(CLCC1):c.*2396C>T GRCh37: Chr1:109472773 GRCh38: Chr1:108930151	CLCC1, GPSM2		not provided, Chudley-McCullough syndrome	Benign (Jun 14, 2018)	criteria provided, multiple submitters, no conflicts
Select item 29171044.	NM_013296.5(GPSM2):c.2040A>G (p.Lys680=) GRCh37: Chr1:109472547 GRCh38: Chr1:108929925	CLCC1, GPSM2		not provided, Chudley-McCullough syndrome	Conflicting interpretations of pathogenicity (Jan 4, 2021)	criteria provided, conflicting interpretations
Select item 29170945.	NM_013296.5(GPSM2):c.1910G>A (p.Arg637Gln) GRCh37: Chr1:109472417 GRCh38: Chr1:108929795	CLCC1, GPSM2	R637Q	not provided, Chudley-McCullough syndrome	Uncertain significance (Nov 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 29170846.	NM_013296.5(GPSM2):c.1799T>A (p.Ile600Asn) GRCh37: Chr1:109466820 GRCh38: Chr1:108924198	GPSM2	I600N	Inborn genetic diseases, Chudley-McCullough syndrome	Uncertain significance (Jan 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 29170747.	NM_013296.5(GPSM2):c.1473del (p.Phe492fs) GRCh37: Chr1:109465069 GRCh38: Chr1:108922447	GPSM2	F492fs	GPSM2-Related Disorders, not provided, Rare genetic deafness	Pathogenic (Nov 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 29170648.	NM_013296.5(GPSM2):c.1358A>G (p.Lys453Arg) GRCh37: Chr1:109461329 GRCh38: Chr1:108918707	GPSM2	K453R	not specified, Chudley-McCullough syndrome	Uncertain significance (Mar 5, 2018)	criteria provided, multiple submitters, no conflicts
Select item 29170549.	NM_013296.5(GPSM2):c.1356G>A (p.Gly452=) GRCh37: Chr1:109461327 GRCh38: Chr1:108918705	GPSM2		Chudley-McCullough syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29170450.	NM_013296.5(GPSM2):c.1263+11G>A GRCh37: Chr1:109457041 GRCh38: Chr1:108914419	GPSM2		Chudley-McCullough syndrome, not provided	Conflicting interpretations of pathogenicity (Sep 19, 2022)	criteria provided, conflicting interpretations
Select item 29170351.	NM_013296.5(GPSM2):c.1244T>C (p.Met415Thr) GRCh37: Chr1:109457011 GRCh38: Chr1:108914389	GPSM2	M415T	Inborn genetic diseases, Chudley-McCullough syndrome	Uncertain significance (Aug 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 29170152.	NM_013296.5(GPSM2):c.683G>A (p.Arg228His) GRCh37: Chr1:109441502 GRCh38: Chr1:108898880	GPSM2	R228H	not provided, Chudley-McCullough syndrome	Uncertain significance (Feb 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 29170053.	NM_013296.5(GPSM2):c.278G>A (p.Arg93Lys) GRCh37: Chr1:109439707 GRCh38: Chr1:108897085	GPSM2	R93K	Chudley-McCullough syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29169954.	NM_013296.5(GPSM2):c.-245T>A GRCh37: Chr1:109427900 GRCh38: Chr1:108885278	GPSM2		Chudley-McCullough syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29169855.	NM_013296.5(GPSM2):c.-258C>T GRCh37: Chr1:109419841 GRCh38: Chr1:108877219	GPSM2		Chudley-McCullough syndrome, not specified	Benign/Likely benign (Feb 11, 2020)	criteria provided, multiple submitters, no conflicts
Select item 29169756.	NM_013296.5(GPSM2):c.-306C>A GRCh37: Chr1:109419793 GRCh38: Chr1:108877171	GPSM2		Chudley-McCullough syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29169657.	NM_013296.5(GPSM2):c.-357C>T GRCh37: Chr1:109419742 GRCh38: Chr1:108877120	GPSM2		Chudley-McCullough syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29169558.	NM_013296.5(GPSM2):c.-369G>A GRCh37: Chr1:109419730 GRCh38: Chr1:108877108	GPSM2		Chudley-McCullough syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29169459.	NM_013296.5(GPSM2):c.-397C>G GRCh37: Chr1:109419702 GRCh38: Chr1:108877080	GPSM2		Chudley-McCullough syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29169360.	NM_013296.5(GPSM2):c.-426G>A GRCh37: Chr1:109419673 GRCh38: Chr1:108877051	GPSM2		Chudley-McCullough syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29169261.	NM_013296.5(GPSM2):c.-429C>T GRCh37: Chr1:109419670 GRCh38: Chr1:108877048	GPSM2		Chudley-McCullough syndrome	Likely benign (Apr 27, 2017)	criteria provided, single submitter
Select item 29169162.	NM_013296.5(GPSM2):c.-441G>C GRCh37: Chr1:109419658 GRCh38: Chr1:108877036	GPSM2		Chudley-McCullough syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29169063.	NM_013296.5(GPSM2):c.-469C>G GRCh37: Chr1:109419630 GRCh38: Chr1:108877008	GPSM2		Chudley-McCullough syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29168964.	NM_013296.5(GPSM2):c.-486G>C GRCh37: Chr1:109419613 GRCh38: Chr1:108876991	GPSM2		Chudley-McCullough syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 22664965.	NM_013296.5(GPSM2):c.1569TTC[1] (p.Ser525del) GRCh37: Chr1:109465166-109465168 GRCh38: Chr1:108922544-108922546	GPSM2	S525del	Nonsyndromic Hearing Loss, Recessive, not provided, not specified, Chudley-McCullough syndrome	Benign/Likely benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21110066.	NM_013296.5(GPSM2):c.1909C>T (p.Arg637Trp) GRCh37: Chr1:109472416 GRCh38: Chr1:108929794	GPSM2, CLCC1	R637W	not specified, Chudley-McCullough syndrome, not provided	Conflicting interpretations of pathogenicity (May 31, 2022)	criteria provided, conflicting interpretations
Select item 17945367.	NM_013296.5(GPSM2):c.186C>T (p.Ser62=) GRCh37: Chr1:109439615 GRCh38: Chr1:108896993	GPSM2		not specified, not provided, Chudley-McCullough syndrome	Conflicting interpretations of pathogenicity (Dec 28, 2021)	criteria provided, conflicting interpretations
Select item 17837668.	NM_013296.5(GPSM2):c.1739C>T (p.Ser580Leu) GRCh37: Chr1:109466760 GRCh38: Chr1:108924138	GPSM2	S580L	not specified, not provided, Chudley-McCullough syndrome	Conflicting interpretations of pathogenicity (Oct 5, 2022)	criteria provided, conflicting interpretations
Select item 16364169.	NM_001377458.1(CLCC1):c.*2854T>C GRCh37: Chr1:109472315 GRCh38: Chr1:108929693	CLCC1, GPSM2		not specified, not provided, Chudley-McCullough syndrome	Benign/Likely benign (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4557270.	NM_013296.5(GPSM2):c.87G>A (p.Leu29=) GRCh37: Chr1:109439516 GRCh38: Chr1:108896894	GPSM2		not specified, not provided, Chudley-McCullough syndrome	Benign/Likely benign (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4557171.	NM_013296.5(GPSM2):c.828A>G (p.Lys276=) GRCh37: Chr1:109444442 GRCh38: Chr1:108901820	GPSM2		not specified, not provided, Chudley-McCullough syndrome	Benign/Likely benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4557072.	NM_013296.5(GPSM2):c.753A>G (p.Ala251=) GRCh37: Chr1:109441572 GRCh38: Chr1:108898950	GPSM2		not provided, not specified, Chudley-McCullough syndrome	Benign/Likely benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4556973.	NM_013296.5(GPSM2):c.529G>A (p.Ala177Thr) GRCh37: Chr1:109440695 GRCh38: Chr1:108898073	GPSM2	A177T	not specified, Chudley-McCullough syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, multiple submitters, no conflicts
Select item 4556874.	NM_013296.5(GPSM2):c.380G>A (p.Arg127Gln) GRCh37: Chr1:109440215 GRCh38: Chr1:108897593	GPSM2	R127Q	not provided, not specified, Chudley-McCullough syndrome	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4556775.	NM_013296.5(GPSM2):c.278+5T>C GRCh37: Chr1:109439712 GRCh38: Chr1:108897090	GPSM2		not provided, not specified, Chudley-McCullough syndrome	Benign/Likely benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4556676.	NM_013296.5(GPSM2):c.2043G>A (p.Ser681=) GRCh37: Chr1:109472550 GRCh38: Chr1:108929928	CLCC1, GPSM2		not specified, not provided, Chudley-McCullough syndrome	Conflicting interpretations of pathogenicity (Oct 21, 2022)	criteria provided, conflicting interpretations
Select item 4556477.	NM_013296.5(GPSM2):c.1370C>T (p.Thr457Met) GRCh37: Chr1:109461341 GRCh38: Chr1:108918719	GPSM2	T457M	not specified, not provided, Chudley-McCullough syndrome	Benign/Likely benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4556378.	NM_013296.5(GPSM2):c.1066G>A (p.Gly356Arg) GRCh37: Chr1:109446750 GRCh38: Chr1:108904128	GPSM2	G356R	not specified, not provided, Chudley-McCullough syndrome	Conflicting interpretations of pathogenicity (Oct 31, 2022)	criteria provided, conflicting interpretations
Select item 3549479.	NM_013296.5(GPSM2):c.1062+1G>T GRCh37: Chr1:109445857 GRCh38: Chr1:108903235	GPSM2		not provided, not specified	Pathogenic (Sep 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 3549380.	NM_013296.5(GPSM2):c.1661C>A (p.Ser554Ter) GRCh37: Chr1:109466682 GRCh38: Chr1:108924060	GPSM2	S554*	not provided, Chudley-McCullough syndrome	Pathogenic/Likely pathogenic (May 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3549281.	NM_013296.5(GPSM2):c.742del (p.Gly249fs) GRCh37: Chr1:109441560 GRCh38: Chr1:108898938	GPSM2	G249fs	GPSM2-Related Disorders, Rare genetic deafness, not provided, Chudley-McCullough syndrome	Pathogenic/Likely pathogenic (Apr 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3078182.	NM_013296.5(GPSM2):c.1684C>T (p.Gln562Ter) GRCh37: Chr1:109466705 GRCh38: Chr1:108924083	GPSM2	Q562*	Chudley-McCullough syndrome	Pathogenic (Jun 8, 2012)	no assertion criteria provided
Select item 182383.	NM_013296.5(GPSM2):c.379C>T (p.Arg127Ter) GRCh37: Chr1:109440214 GRCh38: Chr1:108897592	GPSM2	R127*	Chudley-McCullough syndrome	Pathogenic (Aug 1, 2020)	criteria provided, single submitter

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Items: 83