ClinVar for MedGen (Select 874422) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 14529371.	NM_145200.5(CABP4):c.625C>T (p.Arg209Ter) GRCh37: Chr11:67225127 GRCh38: Chr11:67457656	CABP4	R104, R209	not provided, Cone-rod synaptic disorder, congenital nonprogressive	Pathogenic/Likely pathogenic (Aug 2, 2023)	criteria provided, multiple submitters, no conflicts
Select item 11845082.	NM_145200.5(CABP4):c.292C>T (p.Arg98Ter) GRCh37: Chr11:67223186 GRCh38: Chr11:67455715	CABP4	R98*	not provided	Pathogenic (Mar 17, 2022)	criteria provided, single submitter
Select item 10694873.	NM_145200.5(CABP4):c.154C>T (p.Arg52Ter) GRCh37: Chr11:67223048 GRCh38: Chr11:67455577	CABP4	R52*	not provided	Pathogenic (Jul 26, 2022)	criteria provided, single submitter
Select item 8799994.	NM_145200.5(CABP4):c.*2004G>T GRCh37: Chr11:67228134 GRCh38: Chr11:67460663	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8799985.	NM_145200.5(CABP4):c.*2000A>G GRCh37: Chr11:67228130 GRCh38: Chr11:67460659	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8799976.	NM_145200.5(CABP4):c.*1957A>G GRCh37: Chr11:67228087 GRCh38: Chr11:67460616	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Feb 2, 2018)	criteria provided, single submitter
Select item 8799967.	NM_145200.5(CABP4):c.*1873C>T GRCh37: Chr11:67228003 GRCh38: Chr11:67460532	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 8799408.	NM_145200.5(CABP4):c.*408C>T GRCh37: Chr11:67226538 GRCh38: Chr11:67459067	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8799399.	NM_145200.5(CABP4):c.*394T>A GRCh37: Chr11:67226524 GRCh38: Chr11:67459053	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87993810.	NM_145200.5(CABP4):c.*295G>A GRCh37: Chr11:67226425 GRCh38: Chr11:67458954	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87989911.	NM_145200.5(CABP4):c.246C>A (p.Gly82=) GRCh37: Chr11:67223140 GRCh38: Chr11:67455669	CABP4		Cone-rod synaptic disorder, congenital nonprogressive, not provided	Conflicting interpretations of pathogenicity (Oct 21, 2022)	criteria provided, conflicting interpretations
Select item 87989812.	NM_145200.5(CABP4):c.230G>C (p.Gly77Ala) GRCh37: Chr11:67223124 GRCh38: Chr11:67455653	CABP4	G77A	not provided, Inborn genetic diseases, Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Aug 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87969613.	NM_145200.5(CABP4):c.*2958T>C GRCh37: Chr11:67229088 GRCh38: Chr11:67461617	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87969514.	NM_145200.5(CABP4):c.*2905G>A GRCh37: Chr11:67229035 GRCh38: Chr11:67461564	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87969415.	NM_145200.5(CABP4):c.*2896T>C GRCh37: Chr11:67229026 GRCh38: Chr11:67461555	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87969316.	NM_145200.5(CABP4):c.*2886T>A GRCh37: Chr11:67229016 GRCh38: Chr11:67461545	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87969217.	NM_145200.5(CABP4):c.*2860A>T GRCh37: Chr11:67228990 GRCh38: Chr11:67461519	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87969118.	NM_145200.5(CABP4):c.*2836C>T GRCh37: Chr11:67228966 GRCh38: Chr11:67461495	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87963319.	NM_145200.5(CABP4):c.*1758G>A GRCh37: Chr11:67227888 GRCh38: Chr11:67460417	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87963220.	NM_145200.5(CABP4):c.*1662G>A GRCh37: Chr11:67227792 GRCh38: Chr11:67460321	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87963121.	NM_145200.5(CABP4):c.*1636A>G GRCh37: Chr11:67227766 GRCh38: Chr11:67460295	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87963022.	NM_145200.5(CABP4):c.*1510T>C GRCh37: Chr11:67227640 GRCh38: Chr11:67460169	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87958723.	NM_145200.5(CABP4):c.*62A>T GRCh37: Chr11:67226192 GRCh38: Chr11:67458721	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87958624.	NM_145200.5(CABP4):c.799+7C>T GRCh37: Chr11:67225996 GRCh38: Chr11:67458525	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87953325.	NM_145200.5(CABP4):c.228T>G (p.Thr76=) GRCh37: Chr11:67223122 GRCh38: Chr11:67455651	CABP4		not provided, Cone-rod synaptic disorder, congenital nonprogressive	Conflicting interpretations of pathogenicity (Jul 5, 2022)	criteria provided, conflicting interpretations
Select item 87953226.	NM_145200.5(CABP4):c.10G>C (p.Glu4Gln) GRCh37: Chr11:67222904 GRCh38: Chr11:67455433	CABP4	E4Q	not provided, Cone-rod synaptic disorder, congenital nonprogressive, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 87824127.	NM_145200.5(CABP4):c.*2716T>C GRCh37: Chr11:67228846 GRCh38: Chr11:67461375	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 87824028.	NM_145200.5(CABP4):c.*2357A>G GRCh37: Chr11:67228487 GRCh38: Chr11:67461016	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87817829.	NM_145200.5(CABP4):c.*1413C>T GRCh37: Chr11:67227543 GRCh38: Chr11:67460072	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87817730.	NM_145200.5(CABP4):c.*1402G>A GRCh37: Chr11:67227532 GRCh38: Chr11:67460061	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87817631.	NM_145200.5(CABP4):c.*1392T>C GRCh37: Chr11:67227522 GRCh38: Chr11:67460051	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 87817532.	NM_145200.5(CABP4):c.*1190T>C GRCh37: Chr11:67227320 GRCh38: Chr11:67459849	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87796333.	NM_145200.5(CABP4):c.415G>A (p.Glu139Lys) GRCh37: Chr11:67223787 GRCh38: Chr11:67456316	CABP4	E34K, E139K	Cone-rod synaptic disorder, congenital nonprogressive, not provided	Uncertain significance (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87796234.	NM_145200.5(CABP4):c.397G>A (p.Glu133Lys) GRCh37: Chr11:67223689 GRCh38: Chr11:67456218	CABP4	E133K, E28K	Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87720035.	NM_145200.5(CABP4):c.*2186C>T GRCh37: Chr11:67228316 GRCh38: Chr11:67460845	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 87719936.	NM_145200.5(CABP4):c.*2061C>T GRCh37: Chr11:67228191 GRCh38: Chr11:67460720	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87714437.	NM_145200.5(CABP4):c.*1158A>G GRCh37: Chr11:67227288 GRCh38: Chr11:67459817	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87714338.	NM_145200.5(CABP4):c.*1063G>A GRCh37: Chr11:67227193 GRCh38: Chr11:67459722	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87714239.	NM_145200.5(CABP4):c.*702C>T GRCh37: Chr11:67226832 GRCh38: Chr11:67459361	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 86605440.	NM_145200.5(CABP4):c.65del (p.Pro22fs) GRCh37: Chr11:67222955 GRCh38: Chr11:67455484	CABP4	P22fs	Retinal dystrophy, Cone-rod synaptic disorder, congenital nonprogressive	Pathogenic/Likely pathogenic (Jun 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 85449441.	NM_145200.5(CABP4):c.214A>C (p.Asn72His) GRCh37: Chr11:67223108 GRCh38: Chr11:67455637	CABP4	N72H	not provided, Cone-rod synaptic disorder, congenital nonprogressive	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 80269142.	NM_206997.1(GPR152):c.181G>A (p.Gly61Arg) GRCh37: Chr11:67220015 GRCh38: Chr11:67452544	CABP4, GPR152	G61R	Cone-rod synaptic disorder, congenital nonprogressive	Benign (May 28, 2019)	criteria provided, single submitter
Select item 70701143.	NM_145200.5(CABP4):c.747C>T (p.Asp249=) GRCh37: Chr11:67225937 GRCh38: Chr11:67458466	CABP4		not provided, Cone-rod synaptic disorder, congenital nonprogressive	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63547544.	NM_145200.5(CABP4):c.61_62delinsA (p.Pro21fs) GRCh37: Chr11:67222955-67222956 GRCh38: Chr11:67455484-67455485	CABP4	P21fs	Cone-rod synaptic disorder, congenital nonprogressive	Pathogenic (Jan 25, 2019)	no assertion criteria provided
Select item 43804745.	NM_145200.5(CABP4):c.673C>T (p.Arg225Ter) GRCh37: Chr11:67225863 GRCh38: Chr11:67458392	CABP4	R225, R120	not provided, Retinal dystrophy, Cone-rod synaptic disorder, congenital nonprogressive	Pathogenic (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 30571846.	NM_145200.5(CABP4):c.*3043C>T GRCh37: Chr11:67229173 GRCh38: Chr11:67461702	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30571747.	NM_145200.5(CABP4):c.*2709G>A GRCh37: Chr11:67228839 GRCh38: Chr11:67461368	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30571648.	NM_145200.5(CABP4):c.*2679A>G GRCh37: Chr11:67228809 GRCh38: Chr11:67461338	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30571549.	NM_145200.5(CABP4):c.*2668G>A GRCh37: Chr11:67228798 GRCh38: Chr11:67461327	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30571450.	NM_145200.5(CABP4):c.*2583C>T GRCh37: Chr11:67228713 GRCh38: Chr11:67461242	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30571351.	NM_145200.5(CABP4):c.*2438G>A GRCh37: Chr11:67228568 GRCh38: Chr11:67461097	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30571252.	NM_145200.5(CABP4):c.*2331A>G GRCh37: Chr11:67228461 GRCh38: Chr11:67460990	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30571153.	NM_145200.5(CABP4):c.*2327G>A GRCh37: Chr11:67228457 GRCh38: Chr11:67460986	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 30570854.	NM_145200.5(CABP4):c.*2195G>A GRCh37: Chr11:67228325 GRCh38: Chr11:67460854	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30570755.	NM_145200.5(CABP4):c.*2187G>C GRCh37: Chr11:67228317 GRCh38: Chr11:67460846	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30570556.	NM_145200.5(CABP4):c.*2098C>T GRCh37: Chr11:67228228 GRCh38: Chr11:67460757	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30570457.	NM_145200.5(CABP4):c.*2089T>C GRCh37: Chr11:67228219 GRCh38: Chr11:67460748	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30570358.	NM_145200.5(CABP4):c.*2065T>G GRCh37: Chr11:67228195 GRCh38: Chr11:67460724	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30570259.	NM_145200.5(CABP4):c.*1939A>G GRCh37: Chr11:67228069 GRCh38: Chr11:67460598	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30570160.	NM_145200.5(CABP4):c.*1933C>A GRCh37: Chr11:67228063 GRCh38: Chr11:67460592	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30569961.	NM_145200.5(CABP4):c.*1859C>T GRCh37: Chr11:67227989 GRCh38: Chr11:67460518	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 30569162.	NM_145200.5(CABP4):c.*1857T>C GRCh37: Chr11:67227987 GRCh38: Chr11:67460516	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30568363.	NM_145200.5(CABP4):c.*1827C>T GRCh37: Chr11:67227957 GRCh38: Chr11:67460486	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30568164.	NM_145200.5(CABP4):c.*1697A>G GRCh37: Chr11:67227827 GRCh38: Chr11:67460356	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30568065.	NM_145200.5(CABP4):c.*1527C>T GRCh37: Chr11:67227657 GRCh38: Chr11:67460186	CABP4, LOC130006202		Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30567966.	NM_145200.5(CABP4):c.*1435G>A GRCh37: Chr11:67227565 GRCh38: Chr11:67460094	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30567867.	NM_145200.5(CABP4):c.*1390C>T GRCh37: Chr11:67227520 GRCh38: Chr11:67460049	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30567768.	NM_145200.5(CABP4):c.*1291A>G GRCh37: Chr11:67227421 GRCh38: Chr11:67459950	CABP4, LOC130006201		Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30567669.	NM_145200.5(CABP4):c.*1285G>A GRCh37: Chr11:67227415 GRCh38: Chr11:67459944	CABP4, LOC130006201		Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30567570.	NM_145200.5(CABP4):c.*1223G>A GRCh37: Chr11:67227353 GRCh38: Chr11:67459882	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30567471.	NM_145200.5(CABP4):c.*1117C>A GRCh37: Chr11:67227247 GRCh38: Chr11:67459776	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30567372.	NM_145200.5(CABP4):c.*1040C>A GRCh37: Chr11:67227170 GRCh38: Chr11:67459699	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30567273.	NM_145200.5(CABP4):c.*963C>T GRCh37: Chr11:67227093 GRCh38: Chr11:67459622	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 30567174.	NM_145200.5(CABP4):c.*876G>A GRCh37: Chr11:67227006 GRCh38: Chr11:67459535	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 30567075.	NM_145200.5(CABP4):c.*683A>G GRCh37: Chr11:67226813 GRCh38: Chr11:67459342	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30566976.	NM_145200.5(CABP4):c.*681A>G GRCh37: Chr11:67226811 GRCh38: Chr11:67459340	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30566877.	NM_145200.5(CABP4):c.*669T>C GRCh37: Chr11:67226799 GRCh38: Chr11:67459328	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30566678.	NM_145200.5(CABP4):c.*324C>A GRCh37: Chr11:67226454 GRCh38: Chr11:67458983	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30566579.	NM_145200.5(CABP4):c.*262C>G GRCh37: Chr11:67226392 GRCh38: Chr11:67458921	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30566480.	NM_145200.5(CABP4):c.*120T>A GRCh37: Chr11:67226250 GRCh38: Chr11:67458779	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30566381.	NM_145200.5(CABP4):c.*119T>G GRCh37: Chr11:67226249 GRCh38: Chr11:67458778	CABP4		Cone-rod synaptic disorder, congenital nonprogressive, not provided	Benign (Jul 5, 2018)	criteria provided, multiple submitters, no conflicts
Select item 30566282.	NM_145200.5(CABP4):c.*26C>T GRCh37: Chr11:67226156 GRCh38: Chr11:67458685	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30566183.	NM_145200.5(CABP4):c.816C>T (p.Leu272=) GRCh37: Chr11:67226118 GRCh38: Chr11:67458647	CABP4		Cone-rod synaptic disorder, congenital nonprogressive, not provided	Conflicting interpretations of pathogenicity (Aug 27, 2022)	criteria provided, conflicting interpretations
Select item 30566084.	NM_145200.5(CABP4):c.799+15C>T GRCh37: Chr11:67226004 GRCh38: Chr11:67458533	CABP4		Cone-rod synaptic disorder, congenital nonprogressive, not provided	Benign/Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30565985.	NM_145200.5(CABP4):c.652-11G>A GRCh37: Chr11:67225831 GRCh38: Chr11:67458360	CABP4		Cone-rod synaptic disorder, congenital nonprogressive, not provided	Benign/Likely benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30565886.	NM_145200.5(CABP4):c.651+15G>A GRCh37: Chr11:67225168 GRCh38: Chr11:67457697	CABP4		Cone-rod synaptic disorder, congenital nonprogressive, not provided	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 30565787.	NM_145200.5(CABP4):c.547G>C (p.Gly183Arg) GRCh37: Chr11:67225049 GRCh38: Chr11:67457578	CABP4	G183R, G78R	Cone-rod synaptic disorder, congenital nonprogressive, not provided	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 30565688.	NM_145200.5(CABP4):c.541+14C>T GRCh37: Chr11:67223927 GRCh38: Chr11:67456456	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30565589.	NM_145200.5(CABP4):c.541+8A>C GRCh37: Chr11:67223921 GRCh38: Chr11:67456450	CABP4		Cone-rod synaptic disorder, congenital nonprogressive, not provided	Benign (Mar 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30565490.	NM_145200.5(CABP4):c.541+7C>G GRCh37: Chr11:67223920 GRCh38: Chr11:67456449	CABP4		Cone-rod synaptic disorder, congenital nonprogressive, not provided	Benign (Mar 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30565391.	NM_145200.5(CABP4):c.524A>G (p.Gln175Arg) GRCh37: Chr11:67223896 GRCh38: Chr11:67456425	CABP4	Q175R, Q70R	Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30565292.	NM_145200.5(CABP4):c.522G>A (p.Ser174=) GRCh37: Chr11:67223894 GRCh38: Chr11:67456423	CABP4		Cone-rod synaptic disorder, congenital nonprogressive, not provided	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 30565193.	NM_145200.5(CABP4):c.455G>A (p.Arg152Gln) GRCh37: Chr11:67223827 GRCh38: Chr11:67456356	CABP4	R152Q, R47Q	Cone-rod synaptic disorder, congenital nonprogressive, not provided	Likely benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30565094.	NM_145200.5(CABP4):c.432C>T (p.Asp144=) GRCh37: Chr11:67223804 GRCh38: Chr11:67456333	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30564995.	NM_145200.5(CABP4):c.398-8C>T GRCh37: Chr11:67223762 GRCh38: Chr11:67456291	CABP4		Cone-rod synaptic disorder, congenital nonprogressive, not provided	Conflicting interpretations of pathogenicity (Oct 27, 2022)	criteria provided, conflicting interpretations
Select item 30564896.	NM_145200.5(CABP4):c.367-8C>T GRCh37: Chr11:67223651 GRCh38: Chr11:67456180	CABP4	P15L	not provided, Cone-rod synaptic disorder, congenital nonprogressive	Conflicting interpretations of pathogenicity (Sep 9, 2021)	criteria provided, conflicting interpretations
Select item 30564797.	NM_145200.5(CABP4):c.360C>T (p.Phe120=) GRCh37: Chr11:67223254 GRCh38: Chr11:67455783	CABP4		Cone-rod synaptic disorder, congenital nonprogressive, not provided	Benign/Likely benign (Jun 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 30564698.	NM_145200.5(CABP4):c.318C>T (p.Asp106=) GRCh37: Chr11:67223212 GRCh38: Chr11:67455741	CABP4		not provided, Cone-rod synaptic disorder, congenital nonprogressive	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 30564599.	NM_145200.5(CABP4):c.315C>T (p.His105=) GRCh37: Chr11:67223209 GRCh38: Chr11:67455738	CABP4		Cone-rod synaptic disorder, congenital nonprogressive, not provided	Conflicting interpretations of pathogenicity (Feb 23, 2020)	criteria provided, conflicting interpretations
Select item 305644100.	NM_145200.5(CABP4):c.309C>T (p.Ser103=) GRCh37: Chr11:67223203 GRCh38: Chr11:67455732	CABP4		Cone-rod synaptic disorder, congenital nonprogressive, not provided	Conflicting interpretations of pathogenicity (Mar 20, 2022)	criteria provided, conflicting interpretations

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