ClinVar for MedGen (Select 483485) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25792501.	GRCh38/hg38 19q13.32-13.33(chr19:47257435-47886413)x1 GRCh38: Chr19:47257435-47886413	BICRA, BICRA-AS2, C5AR1, C5AR2, CCDC9, CRX, DHX34, EHD2, INAFM1, KPTN, LINC01595, LOC112552166, LOC116286191, LOC121627882, LOC121627883, LOC121852990, LOC125371537, LOC125371538, LOC125371539, LOC125371540, LOC130064806, LOC130064807, LOC130064808, LOC130064809, LOC130064810, LOC130064811, LOC130064812, LOC130064813, LOC130064814, LOC130064815, LOC130064816, LOC130064817, LOC130064818, LOC130064819, LOC130064820, LOC130064821, LOC130064822, LOC130064823, LOC130064824, LOC130064825, LOC130064826, LOC130064827, LOC130064828, LOC130064829, LOC130064830, LOC130064831, MEIS3, NAPA, NAPA-AS1, NOP53, NOP53-AS1, SELENOW, SLC8A2, SNORD23, SULT2A1, TPRX1, TPRX2, ZNF541		Cone-rod dystrophy 2	Uncertain significance (Aug 24, 2023)	criteria provided, single submitter
Select item 25792492.	GRCh38/hg38 19q13.33(chr19:47834312-47840923)x1 GRCh38: Chr19:47834312-47840923	CRX		Cone-rod dystrophy 2	Uncertain significance (Aug 24, 2023)	criteria provided, single submitter
Select item 25792483.	GRCh38/hg38 19q13.33(chr19:47794370-47886413)x1 GRCh38: Chr19:47794370-47886413	LINC01595, SULT2A1, TPRX1, TPRX2, CRX		Cone-rod dystrophy 2	Uncertain significance (Aug 24, 2023)	criteria provided, single submitter
Select item 24233254.	NC_000019.9:g.(?_48339480)_(48343224_?)del GRCh37: Chr19:48339480-48343224	CRX		Leber congenital amaurosis 7, Cone-rod dystrophy 2	Pathogenic (Sep 14, 2022)	criteria provided, single submitter
Select item 24233245.	NC_000019.9:g.(?_48337701)_(48337820_?)del GRCh37: Chr19:48337701-48337820	CRX		Leber congenital amaurosis 7, Cone-rod dystrophy 2	Uncertain significance (Aug 17, 2022)	criteria provided, single submitter
Select item 24209896.	NM_000554.6(CRX):c.133A>G (p.Thr45Ala) GRCh37: Chr19:48339532 GRCh38: Chr19:47836275	CRX	T45A	Leber congenital amaurosis 7, Cone-rod dystrophy 2	Uncertain significance (Apr 29, 2022)	criteria provided, single submitter
Select item 24157207.	NM_000554.6(CRX):c.406C>T (p.Leu136=) GRCh37: Chr19:48342730 GRCh38: Chr19:47839473	CRX		Leber congenital amaurosis 7, Cone-rod dystrophy 2	Likely benign (Jul 28, 2022)	criteria provided, single submitter
Select item 21977998.	NM_000554.6(CRX):c.213G>A (p.Glu71=) GRCh37: Chr19:48339612 GRCh38: Chr19:47836355	CRX		Cone-rod dystrophy 2, Leber congenital amaurosis 7	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 21975329.	NM_000554.6(CRX):c.211G>A (p.Glu71Lys) GRCh37: Chr19:48339610 GRCh38: Chr19:47836353	CRX	E71K	Leber congenital amaurosis 7, Cone-rod dystrophy 2	Uncertain significance (Oct 4, 2022)	criteria provided, single submitter
Select item 219674710.	NM_000554.6(CRX):c.709C>A (p.Leu237Ile) GRCh37: Chr19:48343033 GRCh38: Chr19:47839776	CRX	L237I	Leber congenital amaurosis 7, Cone-rod dystrophy 2	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 216442811.	NM_000554.6(CRX):c.658C>A (p.Pro220Thr) GRCh37: Chr19:48342982 GRCh38: Chr19:47839725	CRX	P220T	Leber congenital amaurosis 7, Cone-rod dystrophy 2	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 215865512.	NM_000554.6(CRX):c.695C>T (p.Pro232Leu) GRCh37: Chr19:48343019 GRCh38: Chr19:47839762	CRX	P232L	Leber congenital amaurosis 7, Cone-rod dystrophy 2	Uncertain significance (Feb 11, 2022)	criteria provided, single submitter
Select item 215499913.	NM_000554.6(CRX):c.534G>C (p.Gly178=) GRCh37: Chr19:48342858 GRCh38: Chr19:47839601	CRX		Leber congenital amaurosis 7, Cone-rod dystrophy 2	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 215259714.	NM_000554.6(CRX):c.85G>A (p.Ala29Thr) GRCh37: Chr19:48337785 GRCh38: Chr19:47834528	CRX	A29T	Leber congenital amaurosis 7, Cone-rod dystrophy 2	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 215232015.	NM_000554.6(CRX):c.663C>G (p.Tyr221Ter) GRCh37: Chr19:48342987 GRCh38: Chr19:47839730	CRX	Y221*	Leber congenital amaurosis 7, Cone-rod dystrophy 2	Likely pathogenic (Apr 4, 2022)	criteria provided, single submitter
Select item 215178516.	NM_000554.6(CRX):c.484A>C (p.Ile162Leu) GRCh37: Chr19:48342808 GRCh38: Chr19:47839551	CRX	I162L	Leber congenital amaurosis 7, Cone-rod dystrophy 2	Uncertain significance (Aug 27, 2022)	criteria provided, single submitter
Select item 214895617.	NM_000554.6(CRX):c.777C>T (p.Gly259=) GRCh37: Chr19:48343101 GRCh38: Chr19:47839844	CRX		Leber congenital amaurosis 7, Cone-rod dystrophy 2	Likely benign (Jul 26, 2022)	criteria provided, single submitter
Select item 214387718.	NM_000554.6(CRX):c.863A>G (p.Tyr288Cys) GRCh37: Chr19:48343187 GRCh38: Chr19:47839930	CRX	Y288C	Leber congenital amaurosis 7, Cone-rod dystrophy 2	Uncertain significance (Oct 7, 2022)	criteria provided, single submitter
Select item 214092819.	NM_000554.6(CRX):c.342C>T (p.Ala114=) GRCh37: Chr19:48342666 GRCh38: Chr19:47839409	CRX		Leber congenital amaurosis 7, Cone-rod dystrophy 2	Likely benign (Apr 16, 2022)	criteria provided, single submitter
Select item 214052220.	NM_000554.6(CRX):c.205C>G (p.Arg69Gly) GRCh37: Chr19:48339604 GRCh38: Chr19:47836347	CRX	R69G	Cone-rod dystrophy 2, Leber congenital amaurosis 7	Uncertain significance (Oct 18, 2022)	criteria provided, single submitter
Select item 213831321.	NM_000554.6(CRX):c.362C>T (p.Ala121Val) GRCh37: Chr19:48342686 GRCh38: Chr19:47839429	CRX	A121V	Cone-rod dystrophy 2, Leber congenital amaurosis 7	Uncertain significance (Apr 6, 2022)	criteria provided, single submitter
Select item 212445222.	NM_000554.6(CRX):c.773A>G (p.Tyr258Cys) GRCh37: Chr19:48343097 GRCh38: Chr19:47839840	CRX	Y258C	Leber congenital amaurosis 7, Cone-rod dystrophy 2	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 212256023.	NM_000554.6(CRX):c.89T>A (p.Val30Glu) GRCh37: Chr19:48337789 GRCh38: Chr19:47834532	CRX	V30E	Leber congenital amaurosis 7, Cone-rod dystrophy 2	Uncertain significance (Apr 7, 2022)	criteria provided, single submitter
Select item 212167324.	NM_000554.6(CRX):c.360G>A (p.Lys120=) GRCh37: Chr19:48342684 GRCh38: Chr19:47839427	CRX		Leber congenital amaurosis 7, Cone-rod dystrophy 2	Likely benign (Nov 26, 2021)	criteria provided, single submitter
Select item 211728125.	NM_000554.6(CRX):c.844C>T (p.Pro282Ser) GRCh37: Chr19:48343168 GRCh38: Chr19:47839911	CRX	P282S	Leber congenital amaurosis 7, Cone-rod dystrophy 2	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 210963926.	NM_000554.6(CRX):c.488G>A (p.Trp163Ter) GRCh37: Chr19:48342812 GRCh38: Chr19:47839555	CRX	W163*	Cone-rod dystrophy 2, Leber congenital amaurosis 7	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 210954627.	NM_000554.6(CRX):c.786C>T (p.Ser262=) GRCh37: Chr19:48343110 GRCh38: Chr19:47839853	CRX		Leber congenital amaurosis 7, Cone-rod dystrophy 2	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 210903528.	NM_000554.6(CRX):c.101-10C>T GRCh37: Chr19:48339490 GRCh38: Chr19:47836233	CRX		Cone-rod dystrophy 2, Leber congenital amaurosis 7	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 209281029.	NM_000554.6(CRX):c.719C>T (p.Pro240Leu) GRCh37: Chr19:48343043 GRCh38: Chr19:47839786	CRX	P240L	Cone-rod dystrophy 2, Leber congenital amaurosis 7	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 209280030.	NM_000554.6(CRX):c.100+2T>G GRCh37: Chr19:48337802 GRCh38: Chr19:47834545	CRX		Cone-rod dystrophy 2, Leber congenital amaurosis 7	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 209092331.	NM_000554.6(CRX):c.198C>T (p.Val66=) GRCh37: Chr19:48339597 GRCh38: Chr19:47836340	CRX		Cone-rod dystrophy 2, Leber congenital amaurosis 7	Likely benign (Jan 28, 2022)	criteria provided, single submitter
Select item 209023632.	NM_000554.6(CRX):c.675G>C (p.Met225Ile) GRCh37: Chr19:48342999 GRCh38: Chr19:47839742	CRX	M225I	Leber congenital amaurosis 7, Cone-rod dystrophy 2	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 208612033.	NM_000554.6(CRX):c.390T>C (p.Asp130=) GRCh37: Chr19:48342714 GRCh38: Chr19:47839457	CRX		Leber congenital amaurosis 7, Cone-rod dystrophy 2	Likely benign (May 29, 2022)	criteria provided, single submitter
Select item 207664834.	NM_000554.6(CRX):c.60C>T (p.Gly20=) GRCh37: Chr19:48337760 GRCh38: Chr19:47834503	CRX		Cone-rod dystrophy 2, Leber congenital amaurosis 7	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 207181935.	NM_000554.6(CRX):c.557del (p.Leu186fs) GRCh37: Chr19:48342881 GRCh38: Chr19:47839624	CRX	L186fs	Cone-rod dystrophy 2, Leber congenital amaurosis 7	Uncertain significance (Jan 4, 2022)	criteria provided, single submitter
Select item 207051336.	NM_000554.6(CRX):c.678G>A (p.Val226=) GRCh37: Chr19:48343002 GRCh38: Chr19:47839745	CRX		Leber congenital amaurosis 7, Cone-rod dystrophy 2	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 205645437.	NM_000554.6(CRX):c.755C>T (p.Ser252Phe) GRCh37: Chr19:48343079 GRCh38: Chr19:47839822	CRX	S252F	Cone-rod dystrophy 2, Leber congenital amaurosis 7	Uncertain significance (Aug 13, 2022)	criteria provided, single submitter
Select item 204246738.	NM_000554.6(CRX):c.740C>A (p.Ala247Asp) GRCh37: Chr19:48343064 GRCh38: Chr19:47839807	CRX	A247D	Leber congenital amaurosis 7, Cone-rod dystrophy 2	Uncertain significance (Jul 9, 2022)	criteria provided, single submitter
Select item 203735639.	NM_000554.6(CRX):c.119G>C (p.Arg40Pro) GRCh37: Chr19:48339518 GRCh38: Chr19:47836261	CRX	R40P	Cone-rod dystrophy 2, Leber congenital amaurosis 7	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 203376440.	NM_000554.6(CRX):c.714del (p.Gly239fs) GRCh37: Chr19:48343038 GRCh38: Chr19:47839781	CRX	G239fs	Leber congenital amaurosis 7, Cone-rod dystrophy 2	Uncertain significance (Oct 2, 2022)	criteria provided, single submitter
Select item 203309541.	NM_000554.6(CRX):c.555T>A (p.Ser185=) GRCh37: Chr19:48342879 GRCh38: Chr19:47839622	CRX		Cone-rod dystrophy 2, Leber congenital amaurosis 7	Likely benign (Aug 13, 2022)	criteria provided, single submitter
Select item 202381742.	NM_000554.6(CRX):c.253-1G>T GRCh37: Chr19:48342576 GRCh38: Chr19:47839319	CRX		Cone-rod dystrophy 2, Leber congenital amaurosis 7	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 201782843.	NM_000554.6(CRX):c.591_594dup (p.Ser199fs) GRCh37: Chr19:48342912-48342913 GRCh38: Chr19:47839655-47839656	CRX	S199fs	Leber congenital amaurosis 7, Cone-rod dystrophy 2	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 201467844.	NM_000554.6(CRX):c.116_127del (p.Gln39_Glu42del) GRCh37: Chr19:48339512-48339523 GRCh38: Chr19:47836255-47836266	CRX		Cone-rod dystrophy 2, Leber congenital amaurosis 7	Uncertain significance (Oct 19, 2022)	criteria provided, single submitter
Select item 201235945.	NM_000554.6(CRX):c.281G>A (p.Cys94Tyr) GRCh37: Chr19:48342605 GRCh38: Chr19:47839348	CRX	C94Y	Cone-rod dystrophy 2, Leber congenital amaurosis 7	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 200870746.	NM_000554.6(CRX):c.834C>A (p.Phe278Leu) GRCh37: Chr19:48343158 GRCh38: Chr19:47839901	CRX	F278L	Cone-rod dystrophy 2, Leber congenital amaurosis 7	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 200736747.	NM_000554.6(CRX):c.543C>A (p.Ala181=) GRCh37: Chr19:48342867 GRCh38: Chr19:47839610	CRX		Cone-rod dystrophy 2, Leber congenital amaurosis 7	Likely benign (Jun 16, 2022)	criteria provided, single submitter
Select item 200736648.	NM_000554.6(CRX):c.541_542del (p.Ala181fs) GRCh37: Chr19:48342865-48342866 GRCh38: Chr19:47839608-47839609	CRX	A181fs	Leber congenital amaurosis 7, Cone-rod dystrophy 2	Uncertain significance (Jun 16, 2022)	criteria provided, single submitter
Select item 198644449.	NM_000554.6(CRX):c.633G>A (p.Pro211=) GRCh37: Chr19:48342957 GRCh38: Chr19:47839700	CRX		Leber congenital amaurosis 7, Cone-rod dystrophy 2	Likely benign (Oct 28, 2022)	criteria provided, single submitter
Select item 198408050.	NM_000554.6(CRX):c.575C>A (p.Ala192Asp) GRCh37: Chr19:48342899 GRCh38: Chr19:47839642	CRX	A192D	Cone-rod dystrophy 2, Leber congenital amaurosis 7	Uncertain significance (Sep 9, 2022)	criteria provided, single submitter
Select item 194786251.	NM_000554.6(CRX):c.109A>C (p.Arg37=) GRCh37: Chr19:48339508 GRCh38: Chr19:47836251	CRX		Cone-rod dystrophy 2, Leber congenital amaurosis 7	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 193490052.	NM_000554.6(CRX):c.240G>A (p.Glu80=) GRCh37: Chr19:48339639 GRCh38: Chr19:47836382	CRX		Leber congenital amaurosis 7, Cone-rod dystrophy 2	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 193476553.	NM_000554.6(CRX):c.799T>G (p.Leu267Val) GRCh37: Chr19:48343123 GRCh38: Chr19:47839866	CRX	L267V	Leber congenital amaurosis 7, Cone-rod dystrophy 2	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 193091354.	NM_000554.6(CRX):c.497C>A (p.Ala166Asp) GRCh37: Chr19:48342821 GRCh38: Chr19:47839564	CRX	A166D	Leber congenital amaurosis 7, Cone-rod dystrophy 2	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 172040655.	NM_000554.6(CRX):c.106C>T (p.Pro36Ser) GRCh37: Chr19:48339505 GRCh38: Chr19:47836248	CRX	P36S	Cone-rod dystrophy 2, Leber congenital amaurosis 7	Uncertain significance (Sep 26, 2022)	criteria provided, single submitter
Select item 168748856.	NM_000554.6(CRX):c.533_545dup (p.Gly183fs) GRCh37: Chr19:48342856-48342857 GRCh38: Chr19:47839599-47839600	CRX	G183fs	Cone-rod dystrophy 2	Likely pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 168567557.	NM_000554.6(CRX):c.586_587del (p.Ala196fs) GRCh37: Chr19:48342909-48342910 GRCh38: Chr19:47839652-47839653	CRX	A196fs	Cone-rod dystrophy 2	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168567458.	NM_000554.6(CRX):c.545C>G (p.Ser182Ter) GRCh37: Chr19:48342869 GRCh38: Chr19:47839612	CRX	S182*	Cone-rod dystrophy 2, Cone-rod dystrophy 2, Leber congenital amaurosis 7	Pathogenic/Likely pathogenic (Jul 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167429059.	NM_000554.6(CRX):c.774T>C (p.Tyr258=) GRCh37: Chr19:48343098 GRCh38: Chr19:47839841	CRX		Cone-rod dystrophy 2, Leber congenital amaurosis 7	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 167211260.	NM_000554.6(CRX):c.345G>A (p.Arg115=) GRCh37: Chr19:48342669 GRCh38: Chr19:47839412	CRX		Cone-rod dystrophy 2, Leber congenital amaurosis 7	Likely benign (Sep 24, 2021)	criteria provided, single submitter
Select item 165432261.	NM_000554.6(CRX):c.101-6C>T GRCh37: Chr19:48339494 GRCh38: Chr19:47836237	CRX		Leber congenital amaurosis 7, Cone-rod dystrophy 2	Likely benign (Jan 27, 2021)	criteria provided, single submitter
Select item 165096062.	NM_000554.6(CRX):c.690G>T (p.Gly230=) GRCh37: Chr19:48343014 GRCh38: Chr19:47839757	CRX		Leber congenital amaurosis 7, Cone-rod dystrophy 2	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 164346763.	NM_000554.6(CRX):c.441C>T (p.Pro147=) GRCh37: Chr19:48342765 GRCh38: Chr19:47839508	CRX		Cone-rod dystrophy 2, Leber congenital amaurosis 7	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 162929064.	NM_000554.6(CRX):c.747C>G (p.Ser249=) GRCh37: Chr19:48343071 GRCh38: Chr19:47839814	CRX		Cone-rod dystrophy 2, Leber congenital amaurosis 7	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 162878665.	NM_000554.6(CRX):c.195C>T (p.Asp65=) GRCh37: Chr19:48339594 GRCh38: Chr19:47836337	CRX		Leber congenital amaurosis 7, Cone-rod dystrophy 2	Likely benign (Mar 20, 2022)	criteria provided, single submitter
Select item 162526066.	NM_000554.6(CRX):c.253-16C>T GRCh37: Chr19:48342561 GRCh38: Chr19:47839304	CRX		Leber congenital amaurosis 7, Cone-rod dystrophy 2	Likely benign (Oct 12, 2022)	criteria provided, single submitter
Select item 162121867.	NM_000554.6(CRX):c.594C>T (p.Ala198=) GRCh37: Chr19:48342918 GRCh38: Chr19:47839661	CRX		Leber congenital amaurosis 7, Cone-rod dystrophy 2	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 160425968.	NM_000554.6(CRX):c.789C>T (p.Pro263=) GRCh37: Chr19:48343113 GRCh38: Chr19:47839856	CRX		Cone-rod dystrophy 2, Leber congenital amaurosis 7	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 159581469.	NM_000554.6(CRX):c.645C>T (p.Phe215=) GRCh37: Chr19:48342969 GRCh38: Chr19:47839712	CRX		Leber congenital amaurosis 7, Cone-rod dystrophy 2	Benign (Aug 9, 2022)	criteria provided, single submitter
Select item 157883970.	NM_000554.6(CRX):c.9G>A (p.Ala3=) GRCh37: Chr19:48337709 GRCh38: Chr19:47834452	CRX		Cone-rod dystrophy 2, Leber congenital amaurosis 7	Likely benign (Sep 24, 2022)	criteria provided, single submitter
Select item 157411271.	NM_000554.6(CRX):c.696G>A (p.Pro232=) GRCh37: Chr19:48343020 GRCh38: Chr19:47839763	CRX		Cone-rod dystrophy 2, Leber congenital amaurosis 7	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 156374372.	NM_000554.6(CRX):c.369G>A (p.Thr123=) GRCh37: Chr19:48342693 GRCh38: Chr19:47839436	CRX		Cone-rod dystrophy 2, Leber congenital amaurosis 7	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 155916173.	NM_000554.6(CRX):c.252+18_252+24del GRCh37: Chr19:48339666-48339672 GRCh38: Chr19:47836409-47836415	CRX		Leber congenital amaurosis 7, Cone-rod dystrophy 2	Likely benign (Mar 17, 2022)	criteria provided, single submitter
Select item 155299574.	NM_000554.6(CRX):c.462C>T (p.Thr154=) GRCh37: Chr19:48342786 GRCh38: Chr19:47839529	CRX		Leber congenital amaurosis 7, Cone-rod dystrophy 2	Likely benign (Apr 22, 2021)	criteria provided, single submitter
Select item 154594075.	NM_000554.6(CRX):c.216G>A (p.Val72=) GRCh37: Chr19:48339615 GRCh38: Chr19:47836358	CRX		Leber congenital amaurosis 7, Cone-rod dystrophy 2	Likely benign (Mar 29, 2021)	criteria provided, single submitter
Select item 154251376.	NM_000554.6(CRX):c.253-11T>C GRCh37: Chr19:48342566 GRCh38: Chr19:47839309	CRX		Leber congenital amaurosis 7, Cone-rod dystrophy 2	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 153977477.	NM_000554.6(CRX):c.648C>T (p.Ser216=) GRCh37: Chr19:48342972 GRCh38: Chr19:47839715	CRX		Leber congenital amaurosis 7, Cone-rod dystrophy 2	Likely benign (Nov 6, 2021)	criteria provided, single submitter
Select item 153886078.	NM_000554.6(CRX):c.372C>A (p.Ser124=) GRCh37: Chr19:48342696 GRCh38: Chr19:47839439	CRX		Leber congenital amaurosis 7, Cone-rod dystrophy 2	Likely benign (Mar 7, 2021)	criteria provided, single submitter
Select item 153140379.	NM_000554.6(CRX):c.81C>T (p.His27=) GRCh37: Chr19:48337781 GRCh38: Chr19:47834524	CRX		Leber congenital amaurosis 7, Cone-rod dystrophy 2	Likely benign (Feb 8, 2021)	criteria provided, single submitter
Select item 152163380.	NM_000554.6(CRX):c.404C>G (p.Pro135Arg) GRCh37: Chr19:48342728 GRCh38: Chr19:47839471	CRX	P135R	Leber congenital amaurosis 7, Cone-rod dystrophy 2	Uncertain significance (Aug 14, 2021)	criteria provided, single submitter
Select item 151940981.	NM_000554.6(CRX):c.526C>T (p.Arg176Trp) GRCh37: Chr19:48342850 GRCh38: Chr19:47839593	CRX	R176W	Cone-rod dystrophy 2, Leber congenital amaurosis 7	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 151462082.	NM_000554.6(CRX):c.726G>A (p.Val242=) GRCh37: Chr19:48343050 GRCh38: Chr19:47839793	CRX		Leber congenital amaurosis 7, Cone-rod dystrophy 2	Likely benign (Aug 6, 2022)	criteria provided, single submitter
Select item 151439683.	NM_000554.6(CRX):c.128G>T (p.Arg43Leu) GRCh37: Chr19:48339527 GRCh38: Chr19:47836270	CRX	R43L	Leber congenital amaurosis 7, Cone-rod dystrophy 2	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 150753384.	NM_000554.6(CRX):c.783C>G (p.Tyr261Ter) GRCh37: Chr19:48343107 GRCh38: Chr19:47839850	CRX	Y261*	Cone-rod dystrophy 2, Leber congenital amaurosis 7	Uncertain significance (Sep 30, 2021)	criteria provided, single submitter
Select item 149993785.	NM_000554.6(CRX):c.597del (p.Ala200fs) GRCh37: Chr19:48342920 GRCh38: Chr19:47839663	CRX	A200fs	Cone-rod dystrophy 2, Leber congenital amaurosis 7	Uncertain significance (Jul 15, 2021)	criteria provided, single submitter
Select item 149689386.	NM_000554.6(CRX):c.60C>G (p.Gly20=) GRCh37: Chr19:48337760 GRCh38: Chr19:47834503	CRX		Cone-rod dystrophy 2, Leber congenital amaurosis 7	Uncertain significance (Oct 28, 2022)	criteria provided, single submitter
Select item 149644787.	NM_000554.6(CRX):c.624T>G (p.Tyr208Ter) GRCh37: Chr19:48342948 GRCh38: Chr19:47839691	CRX	Y208*	Cone-rod dystrophy 2, Leber congenital amaurosis 7	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 148750688.	NM_000554.6(CRX):c.182C>T (p.Thr61Ile) GRCh37: Chr19:48339581 GRCh38: Chr19:47836324	CRX	T61I	Leber congenital amaurosis 7, Cone-rod dystrophy 2	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 148616889.	NM_000554.6(CRX):c.196G>T (p.Val66Phe) GRCh37: Chr19:48339595 GRCh38: Chr19:47836338	CRX	V66F	Leber congenital amaurosis 7, Cone-rod dystrophy 2	Uncertain significance (Feb 24, 2022)	criteria provided, single submitter
Select item 148566090.	NM_000554.6(CRX):c.25C>T (p.Pro9Ser) GRCh37: Chr19:48337725 GRCh38: Chr19:47834468	CRX	P9S	Cone-rod dystrophy 2, Leber congenital amaurosis 7	Uncertain significance (Aug 4, 2021)	criteria provided, single submitter
Select item 148450291.	NM_000554.6(CRX):c.311A>G (p.Gln104Arg) GRCh37: Chr19:48342635 GRCh38: Chr19:47839378	CRX	Q104R	Leber congenital amaurosis 7, Cone-rod dystrophy 2	Uncertain significance (Aug 27, 2022)	criteria provided, single submitter
Select item 148433192.	NM_000554.6(CRX):c.42C>A (p.Asn14Lys) GRCh37: Chr19:48337742 GRCh38: Chr19:47834485	CRX	N14K	Leber congenital amaurosis 7, Cone-rod dystrophy 2	Uncertain significance (Nov 19, 2021)	criteria provided, single submitter
Select item 148241093.	NM_000554.6(CRX):c.526C>G (p.Arg176Gly) GRCh37: Chr19:48342850 GRCh38: Chr19:47839593	CRX	R176G	Cone-rod dystrophy 2, Leber congenital amaurosis 7	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 148212894.	NM_000554.6(CRX):c.619G>A (p.Ala207Thr) GRCh37: Chr19:48342943 GRCh38: Chr19:47839686	CRX	A207T	Cone-rod dystrophy 2, Leber congenital amaurosis 7	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 148193995.	NM_000554.6(CRX):c.632C>T (p.Pro211Leu) GRCh37: Chr19:48342956 GRCh38: Chr19:47839699	CRX	P211L	Cone-rod dystrophy 2, Leber congenital amaurosis 7	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 148131396.	NM_000554.6(CRX):c.442G>C (p.Gly148Arg) GRCh37: Chr19:48342766 GRCh38: Chr19:47839509	CRX	G148R	Cone-rod dystrophy 2, Leber congenital amaurosis 7	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 148038697.	NM_000554.6(CRX):c.226A>T (p.Ile76Phe) GRCh37: Chr19:48339625 GRCh38: Chr19:47836368	CRX	I76F	Cone-rod dystrophy 2, Leber congenital amaurosis 7	Uncertain significance (Oct 10, 2021)	criteria provided, single submitter
Select item 147990198.	NM_000554.6(CRX):c.774T>A (p.Tyr258Ter) GRCh37: Chr19:48343098 GRCh38: Chr19:47839841	CRX	Y258*	Cone-rod dystrophy 2, Leber congenital amaurosis 7	Likely pathogenic (Oct 8, 2021)	criteria provided, single submitter
Select item 147897899.	NM_000554.6(CRX):c.494del (p.Pro165fs) GRCh37: Chr19:48342816 GRCh38: Chr19:47839559	CRX	P165fs	Cone-rod dystrophy 2, Leber congenital amaurosis 7	Uncertain significance (Oct 4, 2021)	criteria provided, single submitter
Select item 1468996100.	NM_000554.6(CRX):c.108del (p.Arg37fs) GRCh37: Chr19:48339503 GRCh38: Chr19:47836246	CRX	R37fs	Leber congenital amaurosis 7, Cone-rod dystrophy 2	Uncertain significance (Feb 10, 2022)	criteria provided, single submitter

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