57010[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1548141.	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1 GRCh37: Chr11:65508902-67473140 GRCh38: Chr11:65741431-67705669	LOC130006205, LOC130006206, LOC130006207, LOC130006208, LOC130006209, LOC130006210, LOC130006211, LOC130006212, LOC130006213, LOC130006214, LOC130006215, LOC130006216, LOC130006217, LOC130006218, LOC130006219, LOC130006220, LOC130006221, LOC130006222, LOC130006223, LOC130006224, LOC130006225, LOC130006226, LOC130006227, LOC130006228, LOC130006229, LRFN4, MIR3163, MIR6752, MIR6860, MRPL11, MUS81, NDUFV1, NDUFV1-DT, NPAS4, NUDT8, OVOL1, OVOL1-AS1, PACS1, PC, PELI3, PITPNM1, POLD4, PPP1CA, PTPRCAP, RAB1B, RAD9A, RBM14, RBM14-RBM4, RBM4, RBM4B, RCE1, RHOD, RIN1, RPS6KB2, SART1, SF3B2, SLC29A2, SNORD13F, SNX32, SPTBN2, SSH3, SYT12, TBC1D10C, TBX10, TMEM134, TMEM151A, TOP6BL, TRS-GCT3-1, TSGA10IP, YIF1A, ZDHHC24, ACTN3, ACY3, AIP, ALDH3B2, ANKRD13D, AP5B1, B4GAT1, B4GAT1-DT, BANF1, BBS1, BRMS1, C11orf68, C11orf86, CABP2, CABP4, CARNS1, CATSPER1, CCDC85B, CCDC87, CCS, CD248, CDK2AP2, CFL1, CLCF1, CNIH2, CORO1B, CST6, CTSF, CTSW, DPP3, DPP3-DT, DRAP1, EFEMP2, EIF1AD, FIBP, FOSL1, FRA11A, GAL3ST3, GPR152, GRK2, GSTP1, KDM2A, KLC2, KLC2-AS1, KLC2-AS2, LOC100130987, LOC107984341, LOC111413017, LOC111718491, LOC112081411, LOC112081412, LOC113939926, LOC116216147, LOC116216148, LOC121832794, LOC124500672, LOC124500673, LOC124500674, LOC124500675, LOC124500676, LOC124500677, LOC124500678, LOC126861238, LOC126861239, LOC126861240, LOC126861241, LOC126861242, LOC129390293, LOC129390294, LOC129390295, LOC129390296, LOC130006063, LOC130006064, LOC130006065, LOC130006066, LOC130006067, LOC130006068, LOC130006069, LOC130006070, LOC130006071, LOC130006072, LOC130006073, LOC130006074, LOC130006075, LOC130006076, LOC130006077, LOC130006078, LOC130006079, LOC130006080, LOC130006081, LOC130006082, LOC130006083, LOC130006084, LOC130006085, LOC130006086, LOC130006087, LOC130006088, LOC130006089, LOC130006090, LOC130006091, LOC130006092, LOC130006093, LOC130006094, LOC130006095, LOC130006096, LOC130006097, LOC130006098, LOC130006099, LOC130006100, LOC130006101, LOC130006102, LOC130006103, LOC130006104, LOC130006105, LOC130006106, LOC130006107, LOC130006108, LOC130006109, LOC130006110, LOC130006111, LOC130006112, LOC130006113, LOC130006114, LOC130006115, LOC130006116, LOC130006117, LOC130006118, LOC130006119, LOC130006120, LOC130006121, LOC130006122, LOC130006123, LOC130006124, LOC130006125, LOC130006126, LOC130006127, LOC130006128, LOC130006129, LOC130006130, LOC130006131, LOC130006132, LOC130006133, LOC130006134, LOC130006135, LOC130006136, LOC130006137, LOC130006138, LOC130006139, LOC130006140, LOC130006141, LOC130006142, LOC130006143, LOC130006144, LOC130006145, LOC130006146, LOC130006147, LOC130006148, LOC130006149, LOC130006150, LOC130006151, LOC130006152, LOC130006153, LOC130006154, LOC130006155, LOC130006156, LOC130006157, LOC130006158, LOC130006159, LOC130006160, LOC130006161, LOC130006162, LOC130006163, LOC130006164, LOC130006165, LOC130006166, LOC130006167, LOC130006168, LOC130006169, LOC130006170, LOC130006171, LOC130006172, LOC130006173, LOC130006174, LOC130006175, LOC130006176, LOC130006177, LOC130006178, LOC130006179, LOC130006180, LOC130006181, LOC130006182, LOC130006183, LOC130006184, LOC130006185, LOC130006186, LOC130006187, LOC130006188, LOC130006189, LOC130006190, LOC130006191, LOC130006192, LOC130006193, LOC130006194, LOC130006195, LOC130006196, LOC130006197, LOC130006198, LOC130006199, LOC130006200, LOC130006201, LOC130006202, LOC130006203, LOC130006204		See cases	Pathogenic (Oct 24, 2012)	no assertion criteria provided
Select item 597572.	GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3 GRCh37: Chr11:65960973-67658241 GRCh38: Chr11:66193502-67890770	RIN1, RPS6KB2, SLC29A2, SPTBN2, SSH3, SYT12, TBC1D10C, TBX10, TMEM134, TMEM151A, TOP6BL, TRS-GCT3-1, YIF1A, ZDHHC24, ACTN3, ACY3, AIP, ALDH3B2, ANKRD13D, B4GAT1, B4GAT1-DT, BBS1, BRMS1, C11orf86, CABP2, CABP4, CARNS1, CCDC87, CCS, CD248, CDK2AP2, CLCF1, CNIH2, CORO1B, CTSF, DPP3, DPP3-DT, FRA11A, GPR152, GRK2, GSTP1, KDM2A, KLC2, KLC2-AS1, KLC2-AS2, LINC02754, LOC100130987, LOC107984341, LOC111718491, LOC112081411, LOC112081412, LOC113939926, LOC124500675, LOC124500676, LOC124500677, LOC124500678, LOC126861238, LOC126861239, LOC126861240, LOC126861241, LOC126861242, LOC129390293, LOC129390294, LOC129390295, LOC129390296, LOC130006106, LOC130006107, LOC130006108, LOC130006109, LOC130006110, LOC130006111, LOC130006112, LOC130006113, LOC130006114, LOC130006115, LOC130006116, LOC130006117, LOC130006118, LOC130006119, LOC130006120, LOC130006121, LOC130006122, LOC130006123, LOC130006124, LOC130006125, LOC130006126, LOC130006127, LOC130006128, LOC130006129, LOC130006130, LOC130006131, LOC130006132, LOC130006133, LOC130006134, LOC130006135, LOC130006136, LOC130006137, LOC130006138, LOC130006139, LOC130006140, LOC130006141, LOC130006142, LOC130006143, LOC130006144, LOC130006145, LOC130006146, LOC130006147, LOC130006148, LOC130006149, LOC130006150, LOC130006151, LOC130006152, LOC130006153, LOC130006154, LOC130006155, LOC130006156, LOC130006157, LOC130006158, LOC130006159, LOC130006160, LOC130006161, LOC130006162, LOC130006163, LOC130006164, LOC130006165, LOC130006166, LOC130006167, LOC130006168, LOC130006169, LOC130006170, LOC130006171, LOC130006172, LOC130006173, LOC130006174, LOC130006175, LOC130006176, LOC130006177, LOC130006178, LOC130006179, LOC130006180, LOC130006181, LOC130006182, LOC130006183, LOC130006184, LOC130006185, LOC130006186, LOC130006187, LOC130006188, LOC130006189, LOC130006190, LOC130006191, LOC130006192, LOC130006193, LOC130006194, LOC130006195, LOC130006196, LOC130006197, LOC130006198, LOC130006199, LOC130006200, LOC130006201, LOC130006202, LOC130006203, LOC130006204, LOC130006205, LOC130006206, LOC130006207, LOC130006208, LOC130006209, LOC130006210, LOC130006211, LOC130006212, LOC130006213, LOC130006214, LOC130006215, LOC130006216, LOC130006217, LOC130006218, LOC130006219, LOC130006220, LOC130006221, LOC130006222, LOC130006223, LOC130006224, LOC130006225, LOC130006226, LOC130006227, LOC130006228, LOC130006229, LOC130006230, LRFN4, MIR3163, MIR6752, MIR6860, MRPL11, NDUFV1, NDUFV1-DT, NPAS4, NUDT8, PACS1, PC, PELI3, PITPNM1, POLD4, PPP1CA, PTPRCAP, RAB1B, RAD9A, RBM14, RBM14-RBM4, RBM4, RBM4B, RCE1, RHOD		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 588923.	GRCh38/hg38 11q13.2(chr11:66885910-67698250)x1 GRCh37: Chr11:66653381-67465721 GRCh38: Chr11:66885910-67698250	ACY3, AIP, ALDH3B2, ANKRD13D, C11orf86, CABP2, CABP4, CARNS1, CDK2AP2, CLCF1, CORO1B, GPR152, GRK2, GSTP1, KDM2A, LOC100130987, LOC107984341, LOC124500677, LOC124500678, LOC126861239, LOC126861240, LOC126861241, LOC126861242, LOC129390295, LOC129390296, LOC130006143, LOC130006144, LOC130006145, LOC130006146, LOC130006147, LOC130006148, LOC130006149, LOC130006150, LOC130006151, LOC130006152, LOC130006153, LOC130006154, LOC130006155, LOC130006156, LOC130006157, LOC130006158, LOC130006159, LOC130006160, LOC130006161, LOC130006162, LOC130006163, LOC130006164, LOC130006165, LOC130006166, LOC130006167, LOC130006168, LOC130006169, LOC130006170, LOC130006171, LOC130006172, LOC130006173, LOC130006174, LOC130006175, LOC130006176, LOC130006177, LOC130006178, LOC130006179, LOC130006180, LOC130006181, LOC130006182, LOC130006183, LOC130006184, LOC130006185, LOC130006186, LOC130006187, LOC130006188, LOC130006189, LOC130006190, LOC130006191, LOC130006192, LOC130006193, LOC130006194, LOC130006195, LOC130006196, LOC130006197, LOC130006198, LOC130006199, LOC130006200, LOC130006201, LOC130006202, LOC130006203, LOC130006204, LOC130006205, LOC130006206, LOC130006207, LOC130006208, LOC130006209, LOC130006210, LOC130006211, LOC130006212, LOC130006213, LOC130006214, LOC130006215, LOC130006216, LOC130006217, LOC130006218, LOC130006219, LOC130006220, LOC130006221, LOC130006222, LOC130006223, LOC130006224, LOC130006225, LOC130006226, LOC130006227, LOC130006228, LOC130006229, MIR3163, MIR6752, MIR6860, NDUFV1, NDUFV1-DT, NUDT8, PC, PITPNM1, POLD4, PPP1CA, PTPRCAP, RAD9A, RHOD, RPS6KB2, SSH3, SYT12, TBC1D10C, TBX10, TMEM134		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1463044.	GRCh38/hg38 11q13.2-13.3(chr11:67217264-69448598)x1 GRCh37: Chr11:66984735-69263366 GRCh38: Chr11:67217264-69448598	ACY3, AIP, ALDH3B1, ALDH3B2, ANKRD13D, C11orf24, CABP2, CABP4, CARNS1, CDK2AP2, CHKA, CHKA-DT, CLCF1, CORO1B, CPT1A, GAL, GPR152, GRK2, GSTP1, IGHMBP2, KDM2A, KMT5B, LINC02754, LINC02952, LINC02953, LOC100130987, LOC105369367, LOC110121479, LOC111413018, LOC112081413, LOC112081415, LOC112081416, LOC112136078, LOC116216149, LOC116216150, LOC121392924, LOC121832795, LOC121832796, LOC124500678, LOC124500679, LOC124500680, LOC126861240, LOC126861241, LOC126861242, LOC126861243, LOC126861244, LOC126861245, LOC126861246, LOC126861247, LOC126861248, LOC129390296, LOC129390297, LOC129390298, LOC130006167, LOC130006168, LOC130006169, LOC130006170, LOC130006171, LOC130006172, LOC130006173, LOC130006174, LOC130006175, LOC130006176, LOC130006177, LOC130006178, LOC130006179, LOC130006180, LOC130006181, LOC130006182, LOC130006183, LOC130006184, LOC130006185, LOC130006186, LOC130006187, LOC130006188, LOC130006189, LOC130006190, LOC130006191, LOC130006192, LOC130006193, LOC130006194, LOC130006195, LOC130006196, LOC130006197, LOC130006198, LOC130006199, LOC130006200, LOC130006201, LOC130006202, LOC130006203, LOC130006204, LOC130006205, LOC130006206, LOC130006207, LOC130006208, LOC130006209, LOC130006210, LOC130006211, LOC130006212, LOC130006213, LOC130006214, LOC130006215, LOC130006216, LOC130006217, LOC130006218, LOC130006219, LOC130006220, LOC130006221, LOC130006222, LOC130006223, LOC130006224, LOC130006225, LOC130006226, LOC130006227, LOC130006228, LOC130006229, LOC130006230, LOC130006231, LOC130006232, LOC130006233, LOC130006234, LOC130006235, LOC130006236, LOC130006237, LOC130006238, LOC130006239, LOC130006240, LOC130006241, LOC130006242, LOC130006243, LOC130006244, LOC130006245, LOC130006246, LOC130006247, LOC130006248, LOC130006249, LOC130006250, LOC130006251, LOC130006252, LOC130006253, LOC130006254, LOC130006255, LOC130006256, LOC130006257, LOC130006258, LOC130006259, LOC130006260, LOC130006261, LOC130006262, LOC130006263, LOC130006264, LOC130006265, LOC130006266, LOC130006267, LOC130006268, LOC130006269, LOC130006270, LOC130006271, LOC130006272, LOC130006273, LOC130006274, LOC130006275, LOC130006276, LOC130006277, LOC130006278, LOC130006279, LOC130006280, LOC130006281, LOC130006282, LOC130006283, LOC130006284, LOC130006285, LOC130006286, LOC130006287, LOC130006288, LOC130006289, LOC338694, LRP5, MIR3164, MIR4691, MIR6752, MIR6753, MIR7113, MRGPRD, MRGPRF, MRGPRF-AS1, MRPL21, MYEOV, NDUFS8, NDUFV1, NDUFV1-DT, NUDT8, PITPNM1, POLD4, PPP1CA, PPP6R3, PTPRCAP, RAD9A, RPS6KB2, SMIM38, SSH3, TBC1D10C, TBX10, TCIRG1, TESMIN, TMEM134, TPCN2, UNC93B1		See cases	Likely pathogenic (Aug 5, 2011)	no assertion criteria provided
Select item 1477205.	GRCh38/hg38 11q13.2(chr11:67397196-67644438)x1 GRCh37: Chr11:67164667-67411909 GRCh38: Chr11:67397196-67644438	ACY3, AIP, CABP2, CABP4, CARNS1, CDK2AP2, CORO1B, GPR152, GSTP1, LOC124500678, LOC126861241, LOC126861242, LOC129390296, LOC130006192, LOC130006193, LOC130006194, LOC130006195, LOC130006196, LOC130006197, LOC130006198, LOC130006199, LOC130006200, LOC130006201, LOC130006202, LOC130006203, LOC130006204, LOC130006205, LOC130006206, LOC130006207, LOC130006208, LOC130006209, LOC130006210, LOC130006211, LOC130006212, LOC130006213, LOC130006214, LOC130006215, LOC130006216, LOC130006217, LOC130006218, LOC130006219, LOC130006220, LOC130006221, LOC130006222, MIR6752, NDUFV1, NDUFV1-DT, NUDT8, PITPNM1, PPP1CA, PTPRCAP, RAD9A, RPS6KB2, TBC1D10C, TBX10, TMEM134		See cases	Benign (Jan 30, 2010)	no assertion criteria provided
Select item 588936.	GRCh38/hg38 11q13.2(chr11:67446153-68679073)x1 GRCh37: Chr11:67213624-68446541 GRCh38: Chr11:67446153-68679073	ACY3, AIP, ALDH3B1, ALDH3B2, C11orf24, CABP2, CABP4, CDK2AP2, CHKA, CHKA-DT, GPR152, GSTP1, KMT5B, LINC02754, LOC112081413, LOC121392924, LOC121832795, LOC121832796, LOC124500678, LOC124500679, LOC126861241, LOC126861242, LOC126861243, LOC129390296, LOC129390297, LOC130006200, LOC130006201, LOC130006202, LOC130006203, LOC130006204, LOC130006205, LOC130006206, LOC130006207, LOC130006208, LOC130006209, LOC130006210, LOC130006211, LOC130006212, LOC130006213, LOC130006214, LOC130006215, LOC130006216, LOC130006217, LOC130006218, LOC130006219, LOC130006220, LOC130006221, LOC130006222, LOC130006223, LOC130006224, LOC130006225, LOC130006226, LOC130006227, LOC130006228, LOC130006229, LOC130006230, LOC130006231, LOC130006232, LOC130006233, LOC130006234, LOC130006235, LOC130006236, LOC130006237, LOC130006238, LOC130006239, LOC130006240, LOC130006241, LOC130006242, LOC130006243, LOC130006244, LOC130006245, LOC130006246, LOC130006247, LOC130006248, LOC130006249, LOC130006250, LOC130006251, LOC130006252, LOC130006253, LOC130006254, LOC130006255, LOC130006256, LOC130006257, LOC130006258, LOC130006259, LRP5, MIR4691, MIR6752, MIR6753, MIR7113, NDUFS8, NDUFV1, NDUFV1-DT, NUDT8, PITPNM1, PPP6R3, TBX10, TCIRG1, TMEM134, UNC93B1		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 25332067.	NM_206997.1(GPR152):c.266T>C (p.Leu89Pro) GRCh37: Chr11:67219930 GRCh38: Chr11:67452459	CABP4, GPR152	L89P	Inborn genetic diseases	Uncertain significance (May 4, 2023)	criteria provided, single submitter
Select item 23573168.	NM_206997.1(GPR152):c.193C>T (p.Arg65Cys) GRCh37: Chr11:67220003 GRCh38: Chr11:67452532	CABP4, GPR152	R65C	Inborn genetic diseases	Uncertain significance (Sep 16, 2021)	criteria provided, single submitter
Select item 8026919.	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 251951510.	NM_206997.1(GPR152):c.180T>A (p.His60Gln) GRCh37: Chr11:67220016 GRCh38: Chr11:67452545	CABP4, GPR152	H60Q	Inborn genetic diseases	Likely benign (Apr 11, 2023)	criteria provided, single submitter
Select item 248063011.	NM_206997.1(GPR152):c.161C>T (p.Ala54Val) GRCh37: Chr11:67220035 GRCh38: Chr11:67452564	CABP4, GPR152	A54V	Inborn genetic diseases	Uncertain significance (Feb 6, 2023)	criteria provided, single submitter
Select item 240751912.	NM_206997.1(GPR152):c.57G>C (p.Glu19Asp) GRCh37: Chr11:67220139 GRCh38: Chr11:67452668	CABP4, GPR152	E19D	Inborn genetic diseases	Uncertain significance (Aug 4, 2021)	criteria provided, single submitter
Select item 125907213.	NM_001300896.3(CABP4):c.-112-575A>C GRCh37: Chr11:67222605 GRCh38: Chr11:67455134	CABP4		not provided	Benign (Jul 6, 2018)	criteria provided, single submitter
Select item 30563814.	NM_145200.5(CABP4):c.-27G>A GRCh37: Chr11:67222868 GRCh38: Chr11:67455397	CABP4		Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 139065915.	NM_145200.5(CABP4):c.4A>G (p.Thr2Ala) GRCh37: Chr11:67222898 GRCh38: Chr11:67455427	CABP4	T2A	not provided	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 87953216.	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 141854717.	NM_145200.5(CABP4):c.15G>T (p.Gln5His) GRCh37: Chr11:67222909 GRCh38: Chr11:67455438	CABP4	Q5H	not provided	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 203823318.	NM_145200.5(CABP4):c.21G>C (p.Arg7Ser) GRCh37: Chr11:67222915 GRCh38: Chr11:67455444	CABP4	R7S	not provided	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 156302219.	NM_145200.5(CABP4):c.24G>A (p.Gly8=) GRCh37: Chr11:67222918 GRCh38: Chr11:67455447	CABP4		not provided	Likely benign (Jun 9, 2021)	criteria provided, single submitter
Select item 210525420.	NM_145200.5(CABP4):c.36A>G (p.Pro12=) GRCh37: Chr11:67222930 GRCh38: Chr11:67455459	CABP4		not provided	Likely benign (Sep 16, 2022)	criteria provided, single submitter
Select item 108448321.	NM_145200.5(CABP4):c.42G>C (p.Leu14=) GRCh37: Chr11:67222936 GRCh38: Chr11:67455465	CABP4		not provided	Likely benign (Oct 9, 2022)	criteria provided, single submitter
Select item 100963222.	NM_145200.5(CABP4):c.46A>G (p.Ile16Val) GRCh37: Chr11:67222940 GRCh38: Chr11:67455469	CABP4	I16V	not provided	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 151914323.	NM_145200.5(CABP4):c.47T>C (p.Ile16Thr) GRCh37: Chr11:67222941 GRCh38: Chr11:67455470	CABP4	I16T	Inborn genetic diseases, not provided	Conflicting interpretations of pathogenicity (Oct 12, 2022)	criteria provided, conflicting interpretations
Select item 77157024.	NM_145200.5(CABP4):c.50G>C (p.Gly17Ala) GRCh37: Chr11:67222944 GRCh38: Chr11:67455473	CABP4	G17A	not provided	Benign (Nov 1, 2022)	criteria provided, single submitter
Select item 101726525.	NM_145200.5(CABP4):c.52C>T (p.Arg18Cys) GRCh37: Chr11:67222946 GRCh38: Chr11:67455475	CABP4	R18C	not provided	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 30563926.	NM_145200.5(CABP4):c.53G>A (p.Arg18His) GRCh37: Chr11:67222947 GRCh38: Chr11:67455476	CABP4	R18H	not provided, Cone-rod synaptic disorder, congenital nonprogressive	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 199820727.	NM_145200.5(CABP4):c.59A>G (p.Lys20Arg) GRCh37: Chr11:67222953 GRCh38: Chr11:67455482	CABP4	K20R	not provided	Uncertain significance (May 24, 2022)	criteria provided, single submitter
Select item 86605428.	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 63547529.	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 142825130.	NM_145200.5(CABP4):c.64C>G (p.Pro22Ala) GRCh37: Chr11:67222958 GRCh38: Chr11:67455487	CABP4	P22A	not provided	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 152247331.	NM_145200.5(CABP4):c.65C>T (p.Pro22Leu) GRCh37: Chr11:67222959 GRCh38: Chr11:67455488	CABP4	P22L	not provided	Uncertain significance (Sep 12, 2022)	criteria provided, single submitter
Select item 138396732.	NM_145200.5(CABP4):c.66dup (p.Ala23fs) GRCh37: Chr11:67222959-67222960 GRCh38: Chr11:67455488-67455489	CABP4	A23fs	not provided	Pathogenic (Jun 21, 2022)	criteria provided, single submitter
Select item 156102633.	NM_145200.5(CABP4):c.68C>T (p.Ala23Val) GRCh37: Chr11:67222962 GRCh38: Chr11:67455491	CABP4	A23V	not provided	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 105224334.	NM_145200.5(CABP4):c.68C>G (p.Ala23Gly) GRCh37: Chr11:67222962 GRCh38: Chr11:67455491	CABP4	A23G	not provided	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 30564035.	NM_145200.5(CABP4):c.69G>A (p.Ala23=) GRCh37: Chr11:67222963 GRCh38: Chr11:67455492	CABP4		not provided, Cone-rod synaptic disorder, congenital nonprogressive	Conflicting interpretations of pathogenicity (Sep 20, 2022)	criteria provided, conflicting interpretations
Select item 28414936.	NM_145200.5(CABP4):c.72G>C (p.Gly24=) GRCh37: Chr11:67222966 GRCh38: Chr11:67455495	CABP4		not provided	Uncertain significance (Oct 29, 2015)	criteria provided, single submitter
Select item 208624137.	NM_145200.5(CABP4):c.73G>T (p.Val25Phe) GRCh37: Chr11:67222967 GRCh38: Chr11:67455496	CABP4	V25F	not provided	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 200971438.	NM_145200.5(CABP4):c.73G>A (p.Val25Ile) GRCh37: Chr11:67222967 GRCh38: Chr11:67455496	CABP4	V25I	not provided	Uncertain significance (Jun 23, 2022)	criteria provided, single submitter
Select item 144354339.	NM_145200.5(CABP4):c.74T>C (p.Val25Ala) GRCh37: Chr11:67222968 GRCh38: Chr11:67455497	CABP4	V25A	not provided	Uncertain significance (Aug 18, 2021)	criteria provided, single submitter
Select item 19096040.	NM_145200.5(CABP4):c.81_82insA (p.Pro28fs) GRCh37: Chr11:67222975-67222976 GRCh38: Chr11:67455504-67455505	CABP4	P28fs	not provided	Pathogenic (Apr 14, 2020)	criteria provided, single submitter
Select item 208731341.	NM_145200.5(CABP4):c.86A>G (p.Lys29Arg) GRCh37: Chr11:67222980 GRCh38: Chr11:67455509	CABP4	K29R	not provided	Uncertain significance (Jan 17, 2022)	criteria provided, single submitter
Select item 201029042.	NM_145200.5(CABP4):c.87G>A (p.Lys29=) GRCh37: Chr11:67222981 GRCh38: Chr11:67455510	CABP4		not provided	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 19350143.	NM_145200.5(CABP4):c.102G>A (p.Glu34=) GRCh37: Chr11:67222996 GRCh38: Chr11:67455525	CABP4		not provided	Uncertain significance (Mar 10, 2015)	criteria provided, single submitter
Select item 142595244.	NM_145200.5(CABP4):c.107C>G (p.Pro36Arg) GRCh37: Chr11:67223001 GRCh38: Chr11:67455530	CABP4	P36R	not provided	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 110820245.	NM_145200.5(CABP4):c.108G>A (p.Pro36=) GRCh37: Chr11:67223002 GRCh38: Chr11:67455531	CABP4		not provided	Likely benign (Jun 18, 2022)	criteria provided, single submitter
Select item 112389146.	NM_145200.5(CABP4):c.109T>C (p.Leu37=) GRCh37: Chr11:67223003 GRCh38: Chr11:67455532	CABP4		not provided	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 138174547.	NM_145200.5(CABP4):c.113C>T (p.Thr38Ile) GRCh37: Chr11:67223007 GRCh38: Chr11:67455536	CABP4	T38I	not provided	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 191450448.	NM_145200.5(CABP4):c.129G>A (p.Lys43=) GRCh37: Chr11:67223023 GRCh38: Chr11:67455552	CABP4		not provided	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 106389849.	NM_145200.5(CABP4):c.137G>C (p.Arg46Thr) GRCh37: Chr11:67223031 GRCh38: Chr11:67455560	CABP4	R46T	not provided	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 193312050.	NM_145200.5(CABP4):c.139G>C (p.Gly47Arg) GRCh37: Chr11:67223033 GRCh38: Chr11:67455562	CABP4	G47R	not provided	Uncertain significance (May 10, 2022)	criteria provided, single submitter
Select item 137709351.	NM_145200.5(CABP4):c.143T>A (p.Leu48His) GRCh37: Chr11:67223037 GRCh38: Chr11:67455566	CABP4	L48H	not provided	Uncertain significance (Feb 24, 2022)	criteria provided, single submitter
Select item 215211652.	NM_145200.5(CABP4):c.145C>T (p.Arg49Ter) GRCh37: Chr11:67223039 GRCh38: Chr11:67455568	CABP4	R49*	not provided	Pathogenic (Aug 26, 2022)	criteria provided, single submitter
Select item 149327253.	NM_145200.5(CABP4):c.146G>A (p.Arg49Gln) GRCh37: Chr11:67223040 GRCh38: Chr11:67455569	CABP4	R49Q	not provided	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 198167054.	NM_145200.5(CABP4):c.154C>G (p.Arg52Gly) GRCh37: Chr11:67223048 GRCh38: Chr11:67455577	CABP4	R52G	not provided	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 106948755.	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 19349956.	NM_145200.5(CABP4):c.155G>A (p.Arg52Gln) GRCh37: Chr11:67223049 GRCh38: Chr11:67455578	CABP4	R52Q	not provided	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 105278057.	NM_145200.5(CABP4):c.177G>T (p.Gly59=) GRCh37: Chr11:67223071 GRCh38: Chr11:67455600	CABP4		not provided	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 19350058.	NM_145200.5(CABP4):c.187G>A (p.Gly63Ser) GRCh37: Chr11:67223081 GRCh38: Chr11:67455610	CABP4	G63S	not provided	Conflicting interpretations of pathogenicity (Oct 5, 2022)	criteria provided, conflicting interpretations
Select item 152877959.	NM_145200.5(CABP4):c.192C>G (p.Pro64=) GRCh37: Chr11:67223086 GRCh38: Chr11:67455615	CABP4		not provided	Likely benign (Nov 1, 2021)	criteria provided, single submitter
Select item 16676260.	NM_145200.5(CABP4):c.192C>T (p.Pro64=) GRCh37: Chr11:67223086 GRCh38: Chr11:67455615	CABP4		not specified, not provided, Cone-rod synaptic disorder, congenital nonprogressive	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105989661.	NM_145200.5(CABP4):c.193G>A (p.Glu65Lys) GRCh37: Chr11:67223087 GRCh38: Chr11:67455616	CABP4	E65K	not provided	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 30564162.	NM_145200.5(CABP4):c.194A>G (p.Glu65Gly) GRCh37: Chr11:67223088 GRCh38: Chr11:67455617	CABP4	E65G	Cone-rod synaptic disorder, congenital nonprogressive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 104768163.	NM_145200.5(CABP4):c.200C>T (p.Pro67Leu) GRCh37: Chr11:67223094 GRCh38: Chr11:67455623	CABP4	P67L	not provided	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 160405464.	NM_145200.5(CABP4):c.201G>A (p.Pro67=) GRCh37: Chr11:67223095 GRCh38: Chr11:67455624	CABP4		not provided	Likely benign (Mar 2, 2022)	criteria provided, single submitter
Select item 163631865.	NM_145200.5(CABP4):c.207C>T (p.Ser69=) GRCh37: Chr11:67223101 GRCh38: Chr11:67455630	CABP4		not provided	Likely benign (Mar 20, 2022)	criteria provided, single submitter
Select item 85449466.	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 155393567.	NM_145200.5(CABP4):c.216C>T (p.Asn72=) GRCh37: Chr11:67223110 GRCh38: Chr11:67455639	CABP4		not provided	Likely benign (Nov 23, 2021)	criteria provided, single submitter
Select item 229932268.	NM_145200.5(CABP4):c.220C>A (p.Pro74Thr) GRCh37: Chr11:67223114 GRCh38: Chr11:67455643	CABP4	P74T	Inborn genetic diseases	Uncertain significance (Jun 30, 2022)	criteria provided, single submitter
Select item 87953369.	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 203827670.	NM_145200.5(CABP4):c.233_234del (p.Glu78fs) GRCh37: Chr11:67223124-67223125 GRCh38: Chr11:67455653-67455654	CABP4	E78fs	not provided	Pathogenic (Apr 26, 2017)	criteria provided, single submitter
Select item 87989871.	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 100520272.	NM_145200.5(CABP4):c.233A>T (p.Glu78Val) GRCh37: Chr11:67223127 GRCh38: Chr11:67455656	CABP4	E78V	not provided	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 97266673.	NM_145200.5(CABP4):c.239C>T (p.Pro80Leu) GRCh37: Chr11:67223133 GRCh38: Chr11:67455662	CABP4	P80L	not provided	Uncertain significance (Feb 10, 2022)	criteria provided, single submitter
Select item 30564274.	NM_145200.5(CABP4):c.242C>T (p.Ala81Val) GRCh37: Chr11:67223136 GRCh38: Chr11:67455665	CABP4	A81V	Congenital Stationary Night Blindness, Recessive, not provided	Conflicting interpretations of pathogenicity (Sep 27, 2022)	criteria provided, conflicting interpretations
Select item 158516275.	NM_145200.5(CABP4):c.243G>A (p.Ala81=) GRCh37: Chr11:67223137 GRCh38: Chr11:67455666	CABP4		not provided	Likely benign (Jul 9, 2022)	criteria provided, single submitter
Select item 111758676.	NM_145200.5(CABP4):c.246C>T (p.Gly82=) GRCh37: Chr11:67223140 GRCh38: Chr11:67455669	CABP4		not provided	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 87989977.	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 143157778.	NM_145200.5(CABP4):c.247G>C (p.Ala83Pro) GRCh37: Chr11:67223141 GRCh38: Chr11:67455670	CABP4	A83P	not provided	Uncertain significance (Aug 11, 2021)	criteria provided, single submitter
Select item 134654379.	NM_145200.5(CABP4):c.247G>A (p.Ala83Thr) GRCh37: Chr11:67223141 GRCh38: Chr11:67455670	CABP4	A83T	not provided	Uncertain significance (Sep 10, 2021)	criteria provided, single submitter
Select item 146505280.	NM_145200.5(CABP4):c.250C>A (p.Pro84Thr) GRCh37: Chr11:67223144 GRCh38: Chr11:67455673	CABP4	P84T	not provided	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 200499781.	NM_145200.5(CABP4):c.253C>T (p.Pro85Ser) GRCh37: Chr11:67223147 GRCh38: Chr11:67455676	CABP4	P85S	not provided	Uncertain significance (Mar 31, 2022)	criteria provided, single submitter
Select item 84059582.	NM_145200.5(CABP4):c.256G>A (p.Ala86Thr) GRCh37: Chr11:67223150 GRCh38: Chr11:67455679	CABP4	A86T	not provided	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 137851183.	NM_145200.5(CABP4):c.259T>A (p.Ser87Thr) GRCh37: Chr11:67223153 GRCh38: Chr11:67455682	CABP4	S87T	not provided	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 146462584.	NM_145200.5(CABP4):c.260C>G (p.Ser87Cys) GRCh37: Chr11:67223154 GRCh38: Chr11:67455683	CABP4	S87C	Inborn genetic diseases, not provided	Uncertain significance (Aug 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143543385.	NM_145200.5(CABP4):c.260C>T (p.Ser87Phe) GRCh37: Chr11:67223154 GRCh38: Chr11:67455683	CABP4	S87F	not provided	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 216638486.	NM_145200.5(CABP4):c.262C>T (p.Pro88Ser) GRCh37: Chr11:67223156 GRCh38: Chr11:67455685	CABP4	P88S	not provided	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 157421087.	NM_145200.5(CABP4):c.264T>C (p.Pro88=) GRCh37: Chr11:67223158 GRCh38: Chr11:67455687	CABP4		not provided	Likely benign (Nov 9, 2021)	criteria provided, single submitter
Select item 94139488.	NM_145200.5(CABP4):c.269C>T (p.Pro90Leu) GRCh37: Chr11:67223163 GRCh38: Chr11:67455692	CABP4	P90L	not provided	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 93853289.	NM_145200.5(CABP4):c.270G>A (p.Pro90=) GRCh37: Chr11:67223164 GRCh38: Chr11:67455693	CABP4		not provided	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 202269990.	NM_145200.5(CABP4):c.276T>G (p.Ser92=) GRCh37: Chr11:67223170 GRCh38: Chr11:67455699	CABP4		not provided	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 83748491.	NM_145200.5(CABP4):c.280C>T (p.Arg94Cys) GRCh37: Chr11:67223174 GRCh38: Chr11:67455703	CABP4	R94C	not provided	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 84093292.	NM_145200.5(CABP4):c.281G>C (p.Arg94Pro) GRCh37: Chr11:67223175 GRCh38: Chr11:67455704	CABP4	R94P	not provided	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 30564393.	NM_145200.5(CABP4):c.281G>A (p.Arg94His) GRCh37: Chr11:67223175 GRCh38: Chr11:67455704	CABP4	R94H	Cone-rod synaptic disorder, congenital nonprogressive, not provided	Conflicting interpretations of pathogenicity (Oct 28, 2022)	criteria provided, conflicting interpretations
Select item 220462694.	NM_145200.5(CABP4):c.284A>G (p.Gln95Arg) GRCh37: Chr11:67223178 GRCh38: Chr11:67455707	CABP4	Q95R	Inborn genetic diseases	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 118450895.	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 151158796.	NM_145200.5(CABP4):c.293G>A (p.Arg98Gln) GRCh37: Chr11:67223187 GRCh38: Chr11:67455716	CABP4	R98Q	not provided	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 93873997.	NM_145200.5(CABP4):c.296A>T (p.His99Leu) GRCh37: Chr11:67223190 GRCh38: Chr11:67455719	CABP4	H99L	not provided	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 77005198.	NM_145200.5(CABP4):c.299G>A (p.Arg100His) GRCh37: Chr11:67223193 GRCh38: Chr11:67455722	CABP4	R100H	not provided	Benign (Nov 1, 2022)	criteria provided, single submitter
Select item 30564499.	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
Select item 305645100.	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

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