859[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1541751.	GRCh38/hg38 3p26.3-25.3(chr3:20213-9362037)x1 GRCh37: Chr3:61891-9403721 GRCh38: Chr3:20213-9362037	ARL8B, BHLHE40, BHLHE40-AS1, CAV3, CHL1, CHL1-AS1, CHL1-AS2, CNTN4, CNTN4-AS1, CNTN4-AS2, CNTN6, CRBN, EDEM1, EGOT, GRM7, GRM7-AS1, GRM7-AS2, GRM7-AS3, IL5RA, ITPR1, ITPR1-DT, LINC00312, LINC01266, LINC01986, LMCD1, LMCD1-AS1, LOC100130207, LOC101927394, LOC107522028, LOC107522035, LOC111429626, LOC111501788, LOC112935931, LOC112935932, LOC115995504, LOC121009636, LOC121009637, LOC121725127, LOC122889017, LOC122889018, LOC122889019, LOC122889020, LOC122889021, LOC122889022, LOC122889023, LOC122889024, LOC122889025, LOC122889026, LOC126806585, LOC126806586, LOC126806587, LOC126806588, LOC126806589, LOC126806590, LOC126806591, LOC126806592, LOC126806593, LOC126806594, LOC126806595, LOC126806596, LOC126806597, LOC126806598, LOC126806599, LRRN1, MIR4790, OXTR, RAD18, SETMAR, SRGAP3, SRGAP3-AS2, SRGAP3-AS3, SRGAP3-AS4, SSUH2, SUMF1, TRNT1		See cases	Pathogenic (Mar 10, 2014)	no assertion criteria provided
Select item 1532842.	GRCh38/hg38 3p26.3-25.3(chr3:20213-11221602)x1 GRCh37: Chr3:61891-11263288 GRCh38: Chr3:20213-11221602	LOC122889022, LOC122889023, LOC122889024, LOC122889025, LOC122889026, LOC122889027, LOC122889028, LOC122889029, LOC122889030, LOC122889031, LOC122889032, LOC122889033, LOC126806585, LOC126806586, LOC126806587, LOC126806588, LOC126806589, LOC126806590, LOC126806591, LOC126806592, LOC126806593, LOC126806594, LOC126806595, LOC126806596, LOC126806597, LOC126806598, LOC126806599, LOC126806600, LOC126806601, LOC401052, LRRN1, MIR12127, MIR378B, MIR4790, MIR885, MTMR14, OGG1, OXTR, PRRT3, PRRT3-AS1, RAD18, RPUSD3, SEC13, SETD5, SETMAR, SLC6A1, SLC6A1-AS1, SLC6A11, SRGAP3, SRGAP3-AS2, SRGAP3-AS3, SRGAP3-AS4, SSUH2, SUMF1, TADA3, TATDN2, THUMPD3, THUMPD3-AS1, TRNT1, TTLL3, VHL, ARL8B, ARPC4, ARPC4-TTLL3, ATP2B2, ATP2B2-IT2, BHLHE40, BHLHE40-AS1, BRK1, BRPF1, CAMK1, CAV3, CHL1, CHL1-AS1, CHL1-AS2, CIDEC, CNTN4, CNTN4-AS1, CNTN4-AS2, CNTN6, CPNE9, CRBN, CRELD1, EDEM1, EGOT, EMC3, EMC3-AS1, FANCD2, FANCD2OS, GHRL, GHRLOS, GRM7, GRM7-AS1, GRM7-AS2, GRM7-AS3, HRH1, IL17RC, IL17RE, IL5RA, IRAK2, ITPR1, ITPR1-DT, JAGN1, LHFPL4, LINC00312, LINC00606, LINC00852, LINC01266, LINC01986, LMCD1, LMCD1-AS1, LOC100130207, LOC101927394, LOC107303337, LOC107303338, LOC107303339, LOC107303340, LOC107303341, LOC107303342, LOC107522028, LOC107522035, LOC111429626, LOC111501788, LOC112841609, LOC112935931, LOC112935932, LOC112935963, LOC114004374, LOC115995504, LOC121009636, LOC121009637, LOC121009638, LOC121009639, LOC121725127, LOC121725128, LOC121725129, LOC122889017, LOC122889018, LOC122889019, LOC122889020, LOC122889021		See cases	Pathogenic (Mar 24, 2014)	no assertion criteria provided
Select item 1552583.	GRCh38/hg38 3p26.3-25.3(chr3:32241-10323124)x1 GRCh37: Chr3:73914-10364808 GRCh38: Chr3:32241-10323124	ARL8B, ARPC4, ARPC4-TTLL3, BHLHE40, BHLHE40-AS1, BRK1, BRPF1, CAMK1, CAV3, CHL1, CHL1-AS1, CHL1-AS2, CIDEC, CNTN4, CNTN4-AS1, CNTN4-AS2, CNTN6, CPNE9, CRBN, CRELD1, EDEM1, EGOT, EMC3, EMC3-AS1, FANCD2, FANCD2OS, GHRL, GHRLOS, GRM7, GRM7-AS1, GRM7-AS2, GRM7-AS3, IL17RC, IL17RE, IL5RA, IRAK2, ITPR1, ITPR1-DT, JAGN1, LHFPL4, LINC00312, LINC00852, LINC01266, LMCD1, LMCD1-AS1, LOC100130207, LOC101927394, LOC107303337, LOC107303338, LOC107303339, LOC107303340, LOC107303341, LOC107303342, LOC107522028, LOC107522035, LOC111429626, LOC111501788, LOC112935931, LOC112935932, LOC112935963, LOC115995504, LOC121009636, LOC121009637, LOC121009638, LOC121009639, LOC121725127, LOC121725128, LOC121725129, LOC122889017, LOC122889018, LOC122889019, LOC122889020, LOC122889021, LOC122889022, LOC122889023, LOC122889024, LOC122889025, LOC122889026, LOC122889027, LOC122889028, LOC122889029, LOC122889030, LOC122889031, LOC126806585, LOC126806586, LOC126806587, LOC126806588, LOC126806589, LOC126806590, LOC126806591, LOC126806592, LOC126806593, LOC126806594, LOC126806595, LOC126806596, LOC126806597, LOC126806598, LOC126806599, LOC126806600, LOC401052, LRRN1, MIR12127, MIR4790, MTMR14, OGG1, OXTR, PRRT3, PRRT3-AS1, RAD18, RPUSD3, SEC13, SETD5, SETMAR, SRGAP3, SRGAP3-AS2, SRGAP3-AS3, SRGAP3-AS4, SSUH2, SUMF1, TADA3, TATDN2, THUMPD3, THUMPD3-AS1, TRNT1, TTLL3, VHL		See cases	Pathogenic (Jan 9, 2013)	no assertion criteria provided
Select item 1551064.	GRCh38/hg38 3p26.3-25.3(chr3:32241-10631310)x1 GRCh37: Chr3:73914-10672995 GRCh38: Chr3:32241-10631310	ARL8B, ARPC4, ARPC4-TTLL3, ATP2B2, ATP2B2-IT2, BHLHE40, BHLHE40-AS1, BRK1, BRPF1, CAMK1, CAV3, CHL1, CHL1-AS1, CHL1-AS2, CIDEC, CNTN4, CNTN4-AS1, CNTN4-AS2, CNTN6, CPNE9, CRBN, CRELD1, EDEM1, EGOT, EMC3, EMC3-AS1, FANCD2, FANCD2OS, GHRL, GHRLOS, GRM7, GRM7-AS1, GRM7-AS2, GRM7-AS3, IL17RC, IL17RE, IL5RA, IRAK2, ITPR1, ITPR1-DT, JAGN1, LHFPL4, LINC00312, LINC00852, LINC01266, LMCD1, LMCD1-AS1, LOC100130207, LOC101927394, LOC107303337, LOC107303338, LOC107303339, LOC107303340, LOC107303341, LOC107303342, LOC107522028, LOC107522035, LOC111429626, LOC111501788, LOC112935931, LOC112935932, LOC112935963, LOC114004374, LOC115995504, LOC121009636, LOC121009637, LOC121009638, LOC121009639, LOC121725127, LOC121725128, LOC121725129, LOC122889017, LOC122889018, LOC122889019, LOC122889020, LOC122889021, LOC122889022, LOC122889023, LOC122889024, LOC122889025, LOC122889026, LOC122889027, LOC122889028, LOC122889029, LOC122889030, LOC122889031, LOC122889032, LOC126806585, LOC126806586, LOC126806587, LOC126806588, LOC126806589, LOC126806590, LOC126806591, LOC126806592, LOC126806593, LOC126806594, LOC126806595, LOC126806596, LOC126806597, LOC126806598, LOC126806599, LOC126806600, LOC401052, LRRN1, MIR12127, MIR378B, MIR4790, MIR885, MTMR14, OGG1, OXTR, PRRT3, PRRT3-AS1, RAD18, RPUSD3, SEC13, SETD5, SETMAR, SRGAP3, SRGAP3-AS2, SRGAP3-AS3, SRGAP3-AS4, SSUH2, SUMF1, TADA3, TATDN2, THUMPD3, THUMPD3-AS1, TRNT1, TTLL3, VHL		See cases	Pathogenic (Dec 10, 2012)	no assertion criteria provided
Select item 1522565.	GRCh38/hg38 3p26.3-25.3(chr3:32241-9066287)x1 GRCh37: Chr3:73914-9107971 GRCh38: Chr3:32241-9066287	ARL8B, BHLHE40, BHLHE40-AS1, CAV3, CHL1, CHL1-AS1, CHL1-AS2, CNTN4, CNTN4-AS1, CNTN4-AS2, CNTN6, CRBN, EDEM1, EGOT, GRM7, GRM7-AS1, GRM7-AS2, GRM7-AS3, IL5RA, ITPR1, ITPR1-DT, LINC00312, LINC01266, LMCD1, LMCD1-AS1, LOC100130207, LOC101927394, LOC107522028, LOC107522035, LOC111429626, LOC111501788, LOC112935931, LOC112935932, LOC115995504, LOC121009636, LOC121009637, LOC121725127, LOC122889017, LOC122889018, LOC122889019, LOC122889020, LOC122889021, LOC122889022, LOC122889023, LOC122889024, LOC122889025, LOC122889026, LOC126806585, LOC126806586, LOC126806587, LOC126806588, LOC126806589, LOC126806590, LOC126806591, LOC126806592, LOC126806593, LOC126806594, LOC126806595, LOC126806596, LOC126806597, LOC126806598, LOC126806599, LRRN1, MIR4790, OXTR, RAD18, SETMAR, SRGAP3, SSUH2, SUMF1, TRNT1		See cases	Pathogenic (Jan 14, 2013)	no assertion criteria provided
Select item 1515346.	GRCh38/hg38 3p26.3-25.3(chr3:32241-9574994)x1 GRCh37: Chr3:73914-9616678 GRCh38: Chr3:32241-9574994	ARL8B, BHLHE40, BHLHE40-AS1, CAV3, CHL1, CHL1-AS1, CHL1-AS2, CNTN4, CNTN4-AS1, CNTN4-AS2, CNTN6, CRBN, EDEM1, EGOT, GRM7, GRM7-AS1, GRM7-AS2, GRM7-AS3, IL5RA, ITPR1, ITPR1-DT, LHFPL4, LINC00312, LINC01266, LMCD1, LMCD1-AS1, LOC100130207, LOC101927394, LOC107522028, LOC107522035, LOC111429626, LOC111501788, LOC112935931, LOC112935932, LOC115995504, LOC121009636, LOC121009637, LOC121725127, LOC122889017, LOC122889018, LOC122889019, LOC122889020, LOC122889021, LOC122889022, LOC122889023, LOC122889024, LOC122889025, LOC122889026, LOC122889027, LOC122889028, LOC126806585, LOC126806586, LOC126806587, LOC126806588, LOC126806589, LOC126806590, LOC126806591, LOC126806592, LOC126806593, LOC126806594, LOC126806595, LOC126806596, LOC126806597, LOC126806598, LOC126806599, LRRN1, MIR4790, OXTR, RAD18, SETD5, SETMAR, SRGAP3, SRGAP3-AS2, SRGAP3-AS3, SRGAP3-AS4, SSUH2, SUMF1, THUMPD3, THUMPD3-AS1, TRNT1		See cases	Pathogenic (Oct 9, 2012)	no assertion criteria provided
Select item 1503937.	GRCh38/hg38 3p26.3-25.3(chr3:32241-9469506)x1 GRCh37: Chr3:73914-9511190 GRCh38: Chr3:32241-9469506	ARL8B, BHLHE40, BHLHE40-AS1, CAV3, CHL1, CHL1-AS1, CHL1-AS2, CNTN4, CNTN4-AS1, CNTN4-AS2, CNTN6, CRBN, EDEM1, EGOT, GRM7, GRM7-AS1, GRM7-AS2, GRM7-AS3, IL5RA, ITPR1, ITPR1-DT, LINC00312, LINC01266, LMCD1, LMCD1-AS1, LOC100130207, LOC101927394, LOC107522028, LOC107522035, LOC111429626, LOC111501788, LOC112935931, LOC112935932, LOC115995504, LOC121009636, LOC121009637, LOC121725127, LOC122889017, LOC122889018, LOC122889019, LOC122889020, LOC122889021, LOC122889022, LOC122889023, LOC122889024, LOC122889025, LOC122889026, LOC122889027, LOC126806585, LOC126806586, LOC126806587, LOC126806588, LOC126806589, LOC126806590, LOC126806591, LOC126806592, LOC126806593, LOC126806594, LOC126806595, LOC126806596, LOC126806597, LOC126806598, LOC126806599, LRRN1, MIR4790, OXTR, RAD18, SETD5, SETMAR, SRGAP3, SRGAP3-AS2, SRGAP3-AS3, SRGAP3-AS4, SSUH2, SUMF1, THUMPD3, THUMPD3-AS1, TRNT1		See cases	Pathogenic (May 7, 2012)	no assertion criteria provided
Select item 1500318.	GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3 GRCh37: Chr3:73914-13655318 GRCh38: Chr3:32241-13613818	ARL8B, ARPC4, ARPC4-TTLL3, ATG7, ATP2B2, ATP2B2-IT2, BHLHE40, BHLHE40-AS1, BRK1, BRPF1, CAMK1, CAND2, CAV3, CHL1, CHL1-AS1, CHL1-AS2, CIDEC, CNTN4, CNTN4-AS1, CNTN4-AS2, CNTN6, CPNE9, CRBN, CRELD1, EDEM1, EGOT, EMC3, EMC3-AS1, FANCD2, FANCD2OS, FBLN2, GHRL, GHRLOS, GRM7, GRM7-AS1, GRM7-AS2, GRM7-AS3, HDAC11, HDAC11-AS1, HRH1, IL17RC, IL17RE, IL5RA, IQSEC1, IRAK2, ITPR1, ITPR1-DT, JAGN1, LHFPL4, LINC00312, LINC00606, LINC00852, LINC01266, LINC02022, LMCD1, LMCD1-AS1, LOC100130207, LOC101927394, LOC107303337, LOC107303338, LOC107303339, LOC107303340, LOC107303341, LOC107303342, LOC107522028, LOC107522035, LOC108254666, LOC111429626, LOC111501788, LOC112841609, LOC112848342, LOC112935931, LOC112935932, LOC112935963, LOC114004374, LOC114803475, LOC115995504, LOC121009636, LOC121009637, LOC121009638, LOC121009639, LOC121009640, LOC121009641, LOC121009642, LOC121009643, LOC121725127, LOC121725128, LOC121725129, LOC122889017, LOC122889018, LOC122889019, LOC122889020, LOC122889021, LOC122889022, LOC122889023, LOC122889024, LOC122889025, LOC122889026, LOC122889027, LOC122889028, LOC122889029, LOC122889030, LOC122889031, LOC122889032, LOC122889033, LOC122889034, LOC122889035, LOC122889036, LOC122889037, LOC122889038, LOC122889039, LOC126806585, LOC126806586, LOC126806587, LOC126806588, LOC126806589, LOC126806590, LOC126806591, LOC126806592, LOC126806593, LOC126806594, LOC126806595, LOC126806596, LOC126806597, LOC126806598, LOC126806599, LOC126806600, LOC126806601, LOC126806602, LOC126806603, LOC126806604, LOC126806605, LOC126806606, LOC126806607, LOC401052, LRRN1, MIR12127, MIR378B, MIR4790, MIR885, MKRN2, MKRN2OS, MTMR14, NUP210, OGG1, OXTR, PPARG, PRRT3, PRRT3-AS1, RAD18, RAF1, RPL32, RPUSD3, SEC13, SETD5, SETMAR, SLC6A1, SLC6A1-AS1, SLC6A11, SNORA7A, SRGAP3, SRGAP3-AS2, SRGAP3-AS3, SRGAP3-AS4, SSUH2, SUMF1, SYN2, TADA3, TAMM41, TATDN2, THUMPD3, THUMPD3-AS1, TIMP4, TMEM40, TRNT1, TSEN2, TTLL3, VGLL4, VHL		See cases	Pathogenic (Aug 2, 2012)	no assertion criteria provided
Select item 1493319.	GRCh38/hg38 3p26.3-25.3(chr3:32241-11379835)x1 GRCh37: Chr3:73914-11421309 GRCh38: Chr3:32241-11379835	ARL8B, ARPC4, ARPC4-TTLL3, ATG7, ATP2B2, ATP2B2-IT2, BHLHE40, BHLHE40-AS1, BRK1, BRPF1, CAMK1, CAV3, CHL1, CHL1-AS1, CHL1-AS2, CIDEC, CNTN4, CNTN4-AS1, CNTN4-AS2, CNTN6, CPNE9, CRBN, CRELD1, EDEM1, EGOT, EMC3, EMC3-AS1, FANCD2, FANCD2OS, GHRL, GHRLOS, GRM7, GRM7-AS1, GRM7-AS2, GRM7-AS3, HRH1, IL17RC, IL17RE, IL5RA, IRAK2, ITPR1, ITPR1-DT, JAGN1, LHFPL4, LINC00312, LINC00606, LINC00852, LINC01266, LMCD1, LMCD1-AS1, LOC100130207, LOC101927394, LOC107303337, LOC107303338, LOC107303339, LOC107303340, LOC107303341, LOC107303342, LOC107522028, LOC107522035, LOC111429626, LOC111501788, LOC112841609, LOC112848342, LOC112935931, LOC112935932, LOC112935963, LOC114004374, LOC115995504, LOC121009636, LOC121009637, LOC121009638, LOC121009639, LOC121725127, LOC121725128, LOC121725129, LOC122889017, LOC122889018, LOC122889019, LOC122889020, LOC122889021, LOC122889022, LOC122889023, LOC122889024, LOC122889025, LOC122889026, LOC122889027, LOC122889028, LOC122889029, LOC122889030, LOC122889031, LOC122889032, LOC122889033, LOC126806585, LOC126806586, LOC126806587, LOC126806588, LOC126806589, LOC126806590, LOC126806591, LOC126806592, LOC126806593, LOC126806594, LOC126806595, LOC126806596, LOC126806597, LOC126806598, LOC126806599, LOC126806600, LOC126806601, LOC126806602, LOC126806603, LOC401052, LRRN1, MIR12127, MIR378B, MIR4790, MIR885, MTMR14, OGG1, OXTR, PRRT3, PRRT3-AS1, RAD18, RPUSD3, SEC13, SETD5, SETMAR, SLC6A1, SLC6A1-AS1, SLC6A11, SRGAP3, SRGAP3-AS2, SRGAP3-AS3, SRGAP3-AS4, SSUH2, SUMF1, TADA3, TATDN2, THUMPD3, THUMPD3-AS1, TRNT1, TTLL3, VHL		See cases	Pathogenic (Jul 11, 2011)	no assertion criteria provided
Select item 14908510.	GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1 GRCh37: Chr3:73914-12722982 GRCh38: Chr3:32241-12681483	ARL8B, ARPC4, ARPC4-TTLL3, ATG7, ATP2B2, ATP2B2-IT2, BHLHE40, BHLHE40-AS1, BRK1, BRPF1, CAMK1, CAV3, CHL1, CHL1-AS1, CHL1-AS2, CIDEC, CNTN4, CNTN4-AS1, CNTN4-AS2, CNTN6, CPNE9, CRBN, CRELD1, EDEM1, EGOT, EMC3, EMC3-AS1, FANCD2, FANCD2OS, GHRL, GHRLOS, GRM7, GRM7-AS1, GRM7-AS2, GRM7-AS3, HRH1, IL17RC, IL17RE, IL5RA, IRAK2, ITPR1, ITPR1-DT, JAGN1, LHFPL4, LINC00312, LINC00606, LINC00852, LINC01266, LMCD1, LMCD1-AS1, LOC100130207, LOC101927394, LOC107303337, LOC107303338, LOC107303339, LOC107303340, LOC107303341, LOC107303342, LOC107522028, LOC107522035, LOC111429626, LOC111501788, LOC112841609, LOC112848342, LOC112935931, LOC112935932, LOC112935963, LOC114004374, LOC114803475, LOC115995504, LOC121009636, LOC121009637, LOC121009638, LOC121009639, LOC121009640, LOC121725127, LOC121725128, LOC121725129, LOC122889017, LOC122889018, LOC122889019, LOC122889020, LOC122889021, LOC122889022, LOC122889023, LOC122889024, LOC122889025, LOC122889026, LOC122889027, LOC122889028, LOC122889029, LOC122889030, LOC122889031, LOC122889032, LOC122889033, LOC122889034, LOC122889035, LOC122889036, LOC122889037, LOC126806585, LOC126806586, LOC126806587, LOC126806588, LOC126806589, LOC126806590, LOC126806591, LOC126806592, LOC126806593, LOC126806594, LOC126806595, LOC126806596, LOC126806597, LOC126806598, LOC126806599, LOC126806600, LOC126806601, LOC126806602, LOC126806603, LOC126806604, LOC126806605, LOC126806606, LOC401052, LRRN1, MIR12127, MIR378B, MIR4790, MIR885, MKRN2, MKRN2OS, MTMR14, OGG1, OXTR, PPARG, PRRT3, PRRT3-AS1, RAD18, RAF1, RPUSD3, SEC13, SETD5, SETMAR, SLC6A1, SLC6A1-AS1, SLC6A11, SRGAP3, SRGAP3-AS2, SRGAP3-AS3, SRGAP3-AS4, SSUH2, SUMF1, SYN2, TADA3, TAMM41, TATDN2, THUMPD3, THUMPD3-AS1, TIMP4, TRNT1, TSEN2, TTLL3, VGLL4, VHL		See cases	Pathogenic (Feb 10, 2012)	no assertion criteria provided
Select item 14894211.	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3 GRCh37: Chr3:73914-30105699 GRCh38: Chr3:32241-30064208	ANKRD28, ARL8B, ARPC4, ARPC4-TTLL3, ATG7, ATP2B2, ATP2B2-IT2, AZI2, BALR6, BHLHE40, BHLHE40-AS1, BRK1, BRPF1, BTD, C3orf20, CAMK1, CAND2, CAPN7, CAV3, CCDC174, CHCHD4, CHL1, CHL1-AS1, CHL1-AS2, CIDEC, CMC1, CNTN4, CNTN4-AS1, CNTN4-AS2, CNTN6, COLQ, CPNE9, CRBN, CRELD1, DAZL, DPH3, EAF1, EDEM1, EFHB, EGOT, EMC3, EMC3-AS1, EOMES, FANCD2, FANCD2OS, FBLN2, FGD5, FGD5-AS1, GALNT15, GHRL, GHRLOS, GRIP2, GRM7, GRM7-AS1, GRM7-AS2, GRM7-AS3, HACL1, HDAC11, HDAC11-AS1, HRH1, IL17RC, IL17RE, IL5RA, IQSEC1, IRAK2, ITPR1, ITPR1-DT, JAGN1, KAT2B, KCNH8, LHFPL4, LINC00312, LINC00606, LINC00620, LINC00690, LINC00691, LINC00692, LINC00693, LINC00852, LINC01266, LINC01267, LINC01980, LINC01981, LINC02011, LINC02022, LINC02084, LMCD1, LMCD1-AS1, LOC100130207, LOC101927394, LOC101927829, LOC105376975, LOC107133518, LOC107303337, LOC107303338, LOC107303339, LOC107303340, LOC107303341, LOC107303342, LOC107457584, LOC107522028, LOC107522035, LOC108254666, LOC110120630, LOC110121143, LOC111365223, LOC111429626, LOC111465009, LOC111501788, LOC112268445, LOC112841609, LOC112848342, LOC112903834, LOC112903841, LOC112935902, LOC112935927, LOC112935931, LOC112935932, LOC112935963, LOC114004374, LOC114803475, LOC115995504, LOC115995505, LOC115995506, LOC115995507, LOC121009636, LOC121009637, LOC121009638, LOC121009639, LOC121009640, LOC121009641, LOC121009642, LOC121009643, LOC121009644, LOC121009651, LOC121009652, LOC121009653, LOC121009654, LOC121725127, LOC121725128, LOC121725129, LOC121725130, LOC121725131, LOC121725132, LOC121725133, LOC121725134, LOC121725135, LOC121725136, LOC121725137, LOC122889017, LOC122889018, LOC122889019, LOC122889020, LOC122889021, LOC122889022, LOC122889023, LOC122889024, LOC122889025, LOC122889026, LOC122889027, LOC122889028, LOC122889029, LOC122889030, LOC122889031, LOC122889032, LOC122889033, LOC122889034, LOC122889035, LOC122889036, LOC122889037, LOC122889038, LOC122889039, LOC122889040, LOC122889041, LOC122889042, LOC122889043, LOC122889044, LOC122889045, LOC122889046, LOC122889047, LOC122889048, LOC122889049, LOC122889050, LOC122889051, LOC122889052, LOC122889053, LOC122889054, LOC122889055, LOC122889056, LOC122889057, LOC126806585, LOC126806586, LOC126806587, LOC126806588, LOC126806589, LOC126806590, LOC126806591, LOC126806592, LOC126806593, LOC126806594, LOC126806595, LOC126806596, LOC126806597, LOC126806598, LOC126806599, LOC126806600, LOC126806601, LOC126806602, LOC126806603, LOC126806604, LOC126806605, LOC126806606, LOC126806607, LOC126806608, LOC126806609, LOC126806610, LOC126806611, LOC126806612, LOC126806613, LOC126806614, LOC126806615, LOC126806616, LOC126806617, LOC126806618, LOC126806619, LOC126806620, LOC126806621, LOC126806622, LOC126806623, LOC126806624, LOC126806625, LOC126806626, LOC126806627, LOC126806628, LOC126806629, LOC126806630, LOC126806631, LOC126806632, LOC126806633, LOC126806634, LOC126806635, LOC126806636, LOC126806637, LOC126806638, LOC126806639, LOC401052, LRRC3B, LRRC3B-AS1, LRRN1, LSM3, METTL6, MIR12127, MIR3134, MIR3135A, MIR3714, MIR378B, MIR4270, MIR4442, MIR4790, MIR4791, MIR4792, MIR563, MIR885, MKRN2, MKRN2OS, MRPS25, MTMR14, NEK10, NGLY1, NKIRAS1, NR1D2, NR2C2, NUP210, OGG1, OXNAD1, OXSM, OXTR, PLCL2, PLCL2-AS1, PP2D1, PPARG, PRRT3, PRRT3-AS1, RAB5A, RAD18, RAF1, RARB, RARB-AS1, RBMS3, RBMS3-AS1, RBMS3-AS2, RBMS3-AS3, RBSN, RFTN1, RPL15, RPL32, RPUSD3, SATB1, SATB1-AS1, SEC13, SETD5, SETMAR, SGO1, SGO1-AS1, SH3BP5, SH3BP5-AS1, SLC4A7, SLC6A1, SLC6A1-AS1, SLC6A11, SLC6A6, SNORA7A, SNORA93, SRGAP3, SRGAP3-AS2, SRGAP3-AS3, SRGAP3-AS4, SSUH2, SUMF1, SYN2, TADA3, TAMM41, TATDN2, TBC1D5, THRB, THRB-AS1, THRB-AS2, THUMPD3, THUMPD3-AS1, TIMP4, TMEM40, TMEM43, TOP2B, TRNT1, TSEN2, TTLL3, UBE2E1, UBE2E1-AS1, UBE2E2, UBE2E2-DT, VGLL4, VHL, WNT7A, XPC, ZCWPW2, ZNF385D, ZNF385D-AS1, ZNF385D-AS2		See cases	Pathogenic (Dec 16, 2011)	no assertion criteria provided
Select item 14887612.	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3 GRCh37: Chr3:73914-20375879 GRCh38: Chr3:32241-20334387	TRNT1, TSEN2, TTLL3, VGLL4, VHL, WNT7A, XPC, ANKRD28, ARL8B, ARPC4, ARPC4-TTLL3, ATG7, ATP2B2, ATP2B2-IT2, BALR6, BHLHE40, BHLHE40-AS1, BRK1, BRPF1, BTD, C3orf20, CAMK1, CAND2, CAPN7, CAV3, CCDC174, CHCHD4, CHL1, CHL1-AS1, CHL1-AS2, CIDEC, CNTN4, CNTN4-AS1, CNTN4-AS2, CNTN6, COLQ, CPNE9, CRBN, CRELD1, DAZL, DPH3, EAF1, EDEM1, EFHB, EGOT, EMC3, EMC3-AS1, FANCD2, FANCD2OS, FBLN2, FGD5, FGD5-AS1, GALNT15, GHRL, GHRLOS, GRIP2, GRM7, GRM7-AS1, GRM7-AS2, GRM7-AS3, HACL1, HDAC11, HDAC11-AS1, HRH1, IL17RC, IL17RE, IL5RA, IQSEC1, IRAK2, ITPR1, ITPR1-DT, JAGN1, KAT2B, KCNH8, LHFPL4, LINC00312, LINC00606, LINC00620, LINC00690, LINC00852, LINC01266, LINC01267, LINC02011, LINC02022, LMCD1, LMCD1-AS1, LOC100130207, LOC101927394, LOC105376975, LOC107303337, LOC107303338, LOC107303339, LOC107303340, LOC107303341, LOC107303342, LOC107457584, LOC107522028, LOC107522035, LOC108254666, LOC110120630, LOC111429626, LOC111501788, LOC112268445, LOC112841609, LOC112848342, LOC112903834, LOC112903841, LOC112935902, LOC112935931, LOC112935932, LOC112935963, LOC114004374, LOC114803475, LOC115995504, LOC115995505, LOC115995506, LOC115995507, LOC121009636, LOC121009637, LOC121009638, LOC121009639, LOC121009640, LOC121009641, LOC121009642, LOC121009643, LOC121009644, LOC121009651, LOC121009652, LOC121725127, LOC121725128, LOC121725129, LOC121725130, LOC121725131, LOC121725132, LOC121725133, LOC121725134, LOC122889017, LOC122889018, LOC122889019, LOC122889020, LOC122889021, LOC122889022, LOC122889023, LOC122889024, LOC122889025, LOC122889026, LOC122889027, LOC122889028, LOC122889029, LOC122889030, LOC122889031, LOC122889032, LOC122889033, LOC122889034, LOC122889035, LOC122889036, LOC122889037, LOC122889038, LOC122889039, LOC122889040, LOC122889041, LOC122889042, LOC122889043, LOC122889044, LOC122889045, LOC122889046, LOC122889047, LOC122889048, LOC122889049, LOC122889050, LOC122889051, LOC126806585, LOC126806586, LOC126806587, LOC126806588, LOC126806589, LOC126806590, LOC126806591, LOC126806592, LOC126806593, LOC126806594, LOC126806595, LOC126806596, LOC126806597, LOC126806598, LOC126806599, LOC126806600, LOC126806601, LOC126806602, LOC126806603, LOC126806604, LOC126806605, LOC126806606, LOC126806607, LOC126806608, LOC126806609, LOC126806610, LOC126806611, LOC126806612, LOC126806613, LOC126806614, LOC126806615, LOC126806616, LOC126806617, LOC126806618, LOC126806619, LOC126806620, LOC126806621, LOC126806622, LOC126806623, LOC126806624, LOC126806625, LOC401052, LRRN1, LSM3, METTL6, MIR12127, MIR3134, MIR3135A, MIR3714, MIR378B, MIR4270, MIR4790, MIR4791, MIR563, MIR885, MKRN2, MKRN2OS, MRPS25, MTMR14, NR2C2, NUP210, OGG1, OXNAD1, OXTR, PLCL2, PLCL2-AS1, PP2D1, PPARG, PRRT3, PRRT3-AS1, RAB5A, RAD18, RAF1, RBSN, RFTN1, RPL32, RPUSD3, SATB1, SATB1-AS1, SEC13, SETD5, SETMAR, SGO1, SGO1-AS1, SH3BP5, SH3BP5-AS1, SLC6A1, SLC6A1-AS1, SLC6A11, SLC6A6, SNORA7A, SNORA93, SRGAP3, SRGAP3-AS2, SRGAP3-AS3, SRGAP3-AS4, SSUH2, SUMF1, SYN2, TADA3, TAMM41, TATDN2, TBC1D5, THUMPD3, THUMPD3-AS1, TIMP4, TMEM40, TMEM43		See cases	Pathogenic (Nov 11, 2011)	no assertion criteria provided
Select item 14801513.	GRCh38/hg38 3p26.3-25.3(chr3:52266-9450310)x1 GRCh37: Chr3:93949-9491994 GRCh38: Chr3:52266-9450310	ARL8B, BHLHE40, BHLHE40-AS1, CAV3, CHL1, CHL1-AS1, CHL1-AS2, CNTN4, CNTN4-AS1, CNTN4-AS2, CNTN6, CRBN, EDEM1, EGOT, GRM7, GRM7-AS1, GRM7-AS2, GRM7-AS3, IL5RA, ITPR1, ITPR1-DT, LINC00312, LINC01266, LMCD1, LMCD1-AS1, LOC100130207, LOC101927394, LOC107522028, LOC107522035, LOC111429626, LOC111501788, LOC112935931, LOC112935932, LOC115995504, LOC121009636, LOC121009637, LOC121725127, LOC122889017, LOC122889018, LOC122889019, LOC122889020, LOC122889021, LOC122889022, LOC122889023, LOC122889024, LOC122889025, LOC122889026, LOC122889027, LOC126806585, LOC126806586, LOC126806587, LOC126806588, LOC126806589, LOC126806590, LOC126806591, LOC126806592, LOC126806593, LOC126806594, LOC126806595, LOC126806596, LOC126806597, LOC126806598, LOC126806599, LRRN1, MIR4790, OXTR, RAD18, SETD5, SETMAR, SRGAP3, SRGAP3-AS2, SRGAP3-AS3, SRGAP3-AS4, SSUH2, SUMF1, THUMPD3, THUMPD3-AS1, TRNT1		See cases	Pathogenic (Dec 22, 2010)	no assertion criteria provided
Select item 5770814.	GRCh38/hg38 3p26.3-25.3(chr3:52266-11089569)x1 GRCh37: Chr3:93949-11131255 GRCh38: Chr3:52266-11089569	LOC121725129, LOC122889017, LOC122889018, LOC122889019, LOC122889020, LOC122889021, LOC122889022, LOC122889023, LOC122889024, LOC122889025, LOC122889026, LOC122889027, LOC122889028, LOC122889029, LOC122889030, LOC122889031, LOC122889032, LOC122889033, LOC126806585, LOC126806586, LOC126806587, LOC126806588, LOC126806589, LOC126806590, LOC126806591, LOC126806592, LOC126806593, LOC126806594, LOC126806595, LOC126806596, LOC126806597, LOC126806598, LOC126806599, LOC126806600, LOC401052, LRRN1, MIR12127, MIR378B, MIR4790, MIR885, MTMR14, OGG1, OXTR, PRRT3, PRRT3-AS1, RAD18, RPUSD3, SEC13, SETD5, SETMAR, SLC6A1, SLC6A1-AS1, SLC6A11, SRGAP3, SRGAP3-AS2, SRGAP3-AS3, SRGAP3-AS4, SSUH2, SUMF1, TADA3, TATDN2, THUMPD3, THUMPD3-AS1, TRNT1, TTLL3, VHL, ARL8B, ARPC4, ARPC4-TTLL3, ATP2B2, ATP2B2-IT2, BHLHE40, BHLHE40-AS1, BRK1, BRPF1, CAMK1, CAV3, CHL1, CHL1-AS1, CHL1-AS2, CIDEC, CNTN4, CNTN4-AS1, CNTN4-AS2, CNTN6, CPNE9, CRBN, CRELD1, EDEM1, EGOT, EMC3, EMC3-AS1, FANCD2, FANCD2OS, GHRL, GHRLOS, GRM7, GRM7-AS1, GRM7-AS2, GRM7-AS3, IL17RC, IL17RE, IL5RA, IRAK2, ITPR1, ITPR1-DT, JAGN1, LHFPL4, LINC00312, LINC00606, LINC00852, LINC01266, LMCD1, LMCD1-AS1, LOC100130207, LOC101927394, LOC107303337, LOC107303338, LOC107303339, LOC107303340, LOC107303341, LOC107303342, LOC107522028, LOC107522035, LOC111429626, LOC111501788, LOC112841609, LOC112935931, LOC112935932, LOC112935963, LOC114004374, LOC115995504, LOC121009636, LOC121009637, LOC121009638, LOC121009639, LOC121725127, LOC121725128		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 5739715.	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3 GRCh37: Chr3:93949-37189567 GRCh38: Chr3:52266-37148076	ANKRD28, ARL8B, ARPC4, ARPC4-TTLL3, ARPP21, ATG7, ATP2B2, ATP2B2-IT2, AZI2, BALR6, BHLHE40, BHLHE40-AS1, BRK1, BRPF1, BTD, C3orf20, CAMK1, CAND2, CAPN7, CAV3, CCDC174, CCR4, CHCHD4, CHL1, CHL1-AS1, CHL1-AS2, CIDEC, CLASP2, CMC1, CMTM6, CMTM7, CMTM8, CNOT10, CNTN4, CNTN4-AS1, CNTN4-AS2, CNTN6, COLQ, CPNE9, CRBN, CRELD1, CRTAP, DAZL, DCLK3, DPH3, DYNC1LI1, EAF1, EDEM1, EFHB, EGOT, EMC3, EMC3-AS1, EOMES, EPM2AIP1, FANCD2, FANCD2OS, FBLN2, FBXL2, FGD5, FGD5-AS1, GADL1, GALNT15, GHRL, GHRLOS, GLB1, GPD1L, GRIP2, GRM7, GRM7-AS1, GRM7-AS2, GRM7-AS3, HACL1, HDAC11, HDAC11-AS1, HRH1, IL17RC, IL17RE, IL5RA, IQSEC1, IRAK2, ITPR1, ITPR1-DT, JAGN1, KAT2B, KCNH8, LHFPL4, LINC00312, LINC00606, LINC00620, LINC00690, LINC00691, LINC00692, LINC00693, LINC00852, LINC01266, LINC01267, LINC01811, LINC01980, LINC01981, LINC01985, LINC02011, LINC02022, LINC02033, LINC02084, LMCD1, LMCD1-AS1, LOC100130207, LOC101927394, LOC101927829, LOC101928135, LOC105376975, LOC107133518, LOC107303337, LOC107303338, LOC107303339, LOC107303340, LOC107303341, LOC107303342, LOC107457584, LOC107522028, LOC107522035, LOC108254666, LOC110120630, LOC110121143, LOC111365150, LOC111365223, LOC111429626, LOC111465009, LOC111501778, LOC111501788, LOC112268445, LOC112841609, LOC112848342, LOC112903834, LOC112903841, LOC112935902, LOC112935927, LOC112935928, LOC112935931, LOC112935932, LOC112935963, LOC114004374, LOC114803475, LOC115995504, LOC115995505, LOC115995506, LOC115995507, LOC115995508, LOC121009636, LOC121009637, LOC121009638, LOC121009639, LOC121009640, LOC121009641, LOC121009642, LOC121009643, LOC121009644, LOC121009651, LOC121009652, LOC121009653, LOC121009654, LOC121009655, LOC121009656, LOC121009657, LOC121725127, LOC121725128, LOC121725129, LOC121725130, LOC121725131, LOC121725132, LOC121725133, LOC121725134, LOC121725135, LOC121725136, LOC121725137, LOC121725138, LOC122889017, LOC122889018, LOC122889019, LOC122889020, LOC122889021, LOC122889022, LOC122889023, LOC122889024, LOC122889025, LOC122889026, LOC122889027, LOC122889028, LOC122889029, LOC122889030, LOC122889031, LOC122889032, LOC122889033, LOC122889034, LOC122889035, LOC122889036, LOC122889037, LOC122889038, LOC122889039, LOC122889040, LOC122889041, LOC122889042, LOC122889043, LOC122889044, LOC122889045, LOC122889046, LOC122889047, LOC122889048, LOC122889049, LOC122889050, LOC122889051, LOC122889052, LOC122889053, LOC122889054, LOC122889055, LOC122889056, LOC122889057, LOC122889058, LOC122889059, LOC122889060, LOC122889061, LOC122889062, LOC122889063, LOC122889064, LOC122889065, LOC122889066, LOC122889067, LOC126806585, LOC126806586, LOC126806587, LOC126806588, LOC126806589, LOC126806590, LOC126806591, LOC126806592, LOC126806593, LOC126806594, LOC126806595, LOC126806596, LOC126806597, LOC126806598, LOC126806599, LOC126806600, LOC126806601, LOC126806602, LOC126806603, LOC126806604, LOC126806605, LOC126806606, LOC126806607, LOC126806608, LOC126806609, LOC126806610, LOC126806611, LOC126806612, LOC126806613, LOC126806614, LOC126806615, LOC126806616, LOC126806617, LOC126806618, LOC126806619, LOC126806620, LOC126806621, LOC126806622, LOC126806623, LOC126806624, LOC126806625, LOC126806626, LOC126806627, LOC126806628, LOC126806629, LOC126806630, LOC126806631, LOC126806632, LOC126806633, LOC126806634, LOC126806635, LOC126806636, LOC126806637, LOC126806638, LOC126806639, LOC126806640, LOC126806641, LOC126806642, LOC126806643, LOC126806644, LOC126806645, LOC126806646, LOC126806647, LOC126806648, LOC126806649, LOC401052, LRRC3B, LRRC3B-AS1, LRRFIP2, LRRN1, LSM3, METTL6, MIR12127, MIR128-2, MIR3134, MIR3135A, MIR3714, MIR378B, MIR4270, MIR4442, MIR466, MIR4790, MIR4791, MIR4792, MIR548AY, MIR563, MIR885, MKRN2, MKRN2OS, MLH1, MRPS25, MTMR14, NEK10, NGLY1, NKIRAS1, NR1D2, NR2C2, NUP210, OGG1, OSBPL10, OSBPL10-AS1, OXNAD1, OXSM, OXTR, PDCD6IP, PDCD6IP-DT, PLCL2, PLCL2-AS1, PP2D1, PPARG, PRRT3, PRRT3-AS1, RAB5A, RAD18, RAF1, RARB, RARB-AS1, RBMS3, RBMS3-AS1, RBMS3-AS2, RBMS3-AS3, RBSN, RFTN1, RPL15, RPL32, RPUSD3, SATB1, SATB1-AS1, SEC13, SETD5, SETMAR, SGO1, SGO1-AS1, SH3BP5, SH3BP5-AS1, SLC4A7, SLC6A1, SLC6A1-AS1, SLC6A11, SLC6A6, SNORA7A, SNORA93, SRGAP3, SRGAP3-AS2, SRGAP3-AS3, SRGAP3-AS4, SSUH2, STAC, STT3B, SUMF1, SUSD5, SYN2, TADA3, TAMM41, TATDN2, TBC1D5, TGFBR2, THRB, THRB-AS1, THRB-AS2, THUMPD3, THUMPD3-AS1, TIMP4, TMEM40, TMEM43, TMPPE, TOP2B, TRANK1, TRIM71, TRNT1, TSEN2, TTLL3, UBE2E1, UBE2E1-AS1, UBE2E2, UBE2E2-DT, UBP1, VGLL4, VHL, WNT7A, XPC, ZCWPW2, ZNF385D, ZNF385D-AS1, ZNF385D-AS2, ZNF860		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 15341516.	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3 GRCh37: Chr3:94991-41423012 GRCh38: Chr3:53308-41381521	ACAA1, ACVR2B, ACVR2B-AS1, ANKRD28, APRG1, ARL8B, ARPC4, ARPC4-TTLL3, ARPP21, ATG7, ATP2B2, ATP2B2-IT2, AZI2, BALR6, BHLHE40, BHLHE40-AS1, BRK1, BRPF1, BTD, C3orf20, CAMK1, CAND2, CAPN7, CAV3, CCDC174, CCR4, CCR8, CHCHD4, CHL1, CHL1-AS1, CHL1-AS2, CIDEC, CLASP2, CMC1, CMTM6, CMTM7, CMTM8, CNOT10, CNTN4, CNTN4-AS1, CNTN4-AS2, CNTN6, COLQ, CPNE9, CRBN, CRELD1, CRTAP, CSRNP1, CTDSPL, CTNNB1, CX3CR1, DAZL, DCLK3, DLEC1, DPH3, DYNC1LI1, EAF1, EDEM1, EFHB, EGOT, EIF1B, EIF1B-AS1, EMC3, EMC3-AS1, ENTPD3, ENTPD3-AS1, EOMES, EPM2AIP1, EXOG, FANCD2, FANCD2OS, FBLN2, FBXL2, FGD5, FGD5-AS1, GADL1, GALNT15, GHRL, GHRLOS, GLB1, GOLGA4, GOLGA4-AS1, GORASP1, GPD1L, GRIP2, GRM7, GRM7-AS1, GRM7-AS2, GRM7-AS3, HACL1, HDAC11, HDAC11-AS1, HRH1, IL17RC, IL17RE, IL5RA, IQSEC1, IRAK2, ITGA9, ITGA9-AS1, ITPR1, ITPR1-DT, JAGN1, KAT2B, KCNH8, LHFPL4, LINC00312, LINC00606, LINC00620, LINC00690, LINC00691, LINC00692, LINC00693, LINC00852, LINC01266, LINC01267, LINC01811, LINC01980, LINC01981, LINC01985, LINC02011, LINC02022, LINC02033, LINC02084, LMCD1, LMCD1-AS1, LOC100130207, LOC101927394, LOC101927829, LOC101928135, LOC105376975, LOC107133518, LOC107303337, LOC107303338, LOC107303339, LOC107303340, LOC107303341, LOC107303342, LOC107457584, LOC107522028, LOC107522035, LOC108254666, LOC110120630, LOC110121143, LOC110121232, LOC110121269, LOC110121286, LOC110121287, LOC110121288, LOC111365149, LOC111365150, LOC111365223, LOC111429626, LOC111465007, LOC111465009, LOC111501778, LOC111501788, LOC112268445, LOC112841609, LOC112848342, LOC112903834, LOC112903841, LOC112935902, LOC112935927, LOC112935928, LOC112935929, LOC112935930, LOC112935931, LOC112935932, LOC112935933, LOC112935934, LOC112935935, LOC112935963, LOC114004374, LOC114803475, LOC115995504, LOC115995505, LOC115995506, LOC115995507, LOC115995508, LOC115995509, LOC120285841, LOC121009636, LOC121009637, LOC121009638, LOC121009639, LOC121009640, LOC121009641, LOC121009642, LOC121009643, LOC121009644, LOC121009651, LOC121009652, LOC121009653, LOC121009654, LOC121009655, LOC121009656, LOC121009657, LOC121009658, LOC121725127, LOC121725128, LOC121725129, LOC121725130, LOC121725131, LOC121725132, LOC121725133, LOC121725134, LOC121725135, LOC121725136, LOC121725137, LOC121725138, LOC121725139, LOC121725140, LOC122889017, LOC122889018, LOC122889019, LOC122889020, LOC122889021, LOC122889022, LOC122889023, LOC122889024, LOC122889025, LOC122889026, LOC122889027, LOC122889028, LOC122889029, LOC122889030, LOC122889031, LOC122889032, LOC122889033, LOC122889034, LOC122889035, LOC122889036, LOC122889037, LOC122889038, LOC122889039, LOC122889040, LOC122889041, LOC122889042, LOC122889043, LOC122889044, LOC122889045, LOC122889046, LOC122889047, LOC122889048, LOC122889049, LOC122889050, LOC122889051, LOC122889052, LOC122889053, LOC122889054, LOC122889055, LOC122889056, LOC122889057, LOC122889058, LOC122889059, LOC122889060, LOC122889061, LOC122889062, LOC122889063, LOC122889064, LOC122889065, LOC122889066, LOC122889067, LOC122889068, LOC122889069, LOC122889070, LOC122889071, LOC122889072, LOC122889073, LOC126806585, LOC126806586, LOC126806587, LOC126806588, LOC126806589, LOC126806590, LOC126806591, LOC126806592, LOC126806593, LOC126806594, LOC126806595, LOC126806596, LOC126806597, LOC126806598, LOC126806599, LOC126806600, LOC126806601, LOC126806602, LOC126806603, LOC126806604, LOC126806605, LOC126806606, LOC126806607, LOC126806608, LOC126806609, LOC126806610, LOC126806611, LOC126806612, LOC126806613, LOC126806614, LOC126806615, LOC126806616, LOC126806617, LOC126806618, LOC126806619, LOC126806620, LOC126806621, LOC126806622, LOC126806623, LOC126806624, LOC126806625, LOC126806626, LOC126806627, LOC126806628, LOC126806629, LOC126806630, LOC126806631, LOC126806632, LOC126806633, LOC126806634, LOC126806635, LOC126806636, LOC126806637, LOC126806638, LOC126806639, LOC126806640, LOC126806641, LOC126806642, LOC126806643, LOC126806644, LOC126806645, LOC126806646, LOC126806647, LOC126806648, LOC126806649, LOC126806650, LOC126806651, LOC126806652, LOC126806653, LOC126806654, LOC126806655, LOC126806656, LOC126806657, LOC126806658, LOC126806659, LOC401052, LRRC3B, LRRC3B-AS1, LRRFIP2, LRRN1, LSM3, METTL6, MIR12127, MIR128-2, MIR26A1, MIR3134, MIR3135A, MIR3714, MIR378B, MIR4270, MIR4442, MIR466, MIR4790, MIR4791, MIR4792, MIR548AY, MIR563, MIR6822, MIR885, MKRN2, MKRN2OS, MLH1, MOBP, MRPS25, MTMR14, MYD88, MYRIP, NEK10, NGLY1, NKIRAS1, NR1D2, NR2C2, NUP210, OGG1, OSBPL10, OSBPL10-AS1, OXNAD1, OXSM, OXSR1, OXTR, PDCD6IP, PDCD6IP-DT, PLCD1, PLCL2, PLCL2-AS1, PP2D1, PPARG, PRRT3, PRRT3-AS1, RAB5A, RAD18, RAF1, RARB, RARB-AS1, RBMS3, RBMS3-AS1, RBMS3-AS2, RBMS3-AS3, RBSN, RFTN1, RPL14, SCN10A, RPL15, RPL32, RPSA, RPUSD3, SATB1, SATB1-AS1, SCN11A, SCN5A, SEC13, SETD5, SETMAR, SGO1, SGO1-AS1, SH3BP5, SH3BP5-AS1, SLC22A13, SLC22A14, SLC25A38, SLC4A7, SLC6A1, SLC6A1-AS1, SLC6A11, SLC6A6, SNORA6, SNORA62, SNORA7A, SNORA93, SRGAP3, SRGAP3-AS2, SRGAP3-AS3, SRGAP3-AS4, SSUH2, STAC, STT3B, SUMF1, SUSD5, SYN2, TADA3, TAMM41, TATDN2, TBC1D5, TGFBR2, THRB, THRB-AS1, THRB-AS2, THUMPD3, THUMPD3-AS1, TIMP4, TMEM40, TMEM43, TMPPE, TOP2B, TRANK1, TRIM71, TRNT1, TSEN2, TTC21A, TTLL3, UBE2E1, UBE2E1-AS1, UBE2E2, UBE2E2-DT, UBP1, ULK4, VGLL4, VHL, VILL, WDR48, WNT7A, XIRP1, XPC, XYLB, ZCWPW2, ZNF385D, ZNF385D-AS1, ZNF385D-AS2, ZNF619, ZNF620, ZNF621, ZNF860		See cases	Pathogenic (Jun 4, 2013)	no assertion criteria provided
Select item 5797717.	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3 GRCh37: Chr3:105526-19552092 GRCh38: Chr3:63843-19510600	ANKRD28, ARL8B, ARPC4, ARPC4-TTLL3, ATG7, ATP2B2, ATP2B2-IT2, BALR6, BHLHE40, BHLHE40-AS1, BRK1, BRPF1, BTD, C3orf20, CAMK1, CAND2, CAPN7, CAV3, CCDC174, CHCHD4, CHL1, CHL1-AS1, CHL1-AS2, CIDEC, CNTN4, CNTN4-AS1, CNTN4-AS2, CNTN6, COLQ, CPNE9, CRBN, CRELD1, DAZL, DPH3, EAF1, EDEM1, EGOT, EMC3, EMC3-AS1, FANCD2, FANCD2OS, FBLN2, FGD5, FGD5-AS1, GALNT15, GHRL, GHRLOS, GRIP2, GRM7, GRM7-AS1, GRM7-AS2, GRM7-AS3, HACL1, HDAC11, HDAC11-AS1, HRH1, IL17RC, IL17RE, IL5RA, IQSEC1, IRAK2, ITPR1, ITPR1-DT, JAGN1, KCNH8, LHFPL4, LINC00312, LINC00606, LINC00620, LINC00690, LINC00852, LINC01266, LINC01267, LINC02011, LINC02022, LMCD1, LMCD1-AS1, LOC100130207, LOC101927394, LOC105376975, LOC107303337, LOC107303338, LOC107303339, LOC107303340, LOC107303341, LOC107303342, LOC107457584, LOC107522028, LOC107522035, LOC108254666, LOC110120630, LOC111429626, LOC111501788, LOC112268445, LOC112841609, LOC112848342, LOC112903834, LOC112903841, LOC112935902, LOC112935931, LOC112935932, LOC112935963, LOC114004374, LOC114803475, LOC115995504, LOC115995505, LOC115995506, LOC121009636, LOC121009637, LOC121009638, LOC121009639, LOC121009640, LOC121009641, LOC121009642, LOC121009643, LOC121009644, LOC121009651, LOC121009652, LOC121725127, LOC121725128, LOC121725129, LOC121725130, LOC121725131, LOC121725132, LOC121725133, LOC121725134, LOC122889017, LOC122889018, LOC122889019, LOC122889020, LOC122889021, LOC122889022, LOC122889023, LOC122889024, LOC122889025, LOC122889026, LOC122889027, LOC122889028, LOC122889029, LOC122889030, LOC122889031, LOC122889032, LOC122889033, LOC122889034, LOC122889035, LOC122889036, LOC122889037, LOC122889038, LOC122889039, LOC122889040, LOC122889041, LOC122889042, LOC122889043, LOC122889044, LOC122889045, LOC122889046, LOC122889047, LOC122889048, LOC122889049, LOC122889050, LOC126806585, LOC126806586, LOC126806587, LOC126806588, LOC126806589, LOC126806590, LOC126806591, LOC126806592, LOC126806593, LOC126806594, LOC126806595, LOC126806596, LOC126806597, LOC126806598, LOC126806599, LOC126806600, LOC126806601, LOC126806602, LOC126806603, LOC126806604, LOC126806605, LOC126806606, LOC126806607, LOC126806608, LOC126806609, LOC126806610, LOC126806611, LOC126806612, LOC126806613, LOC126806614, LOC126806615, LOC126806616, LOC126806617, LOC126806618, LOC126806619, LOC126806620, LOC126806621, LOC126806622, LOC126806623, LOC126806624, LOC401052, LRRN1, LSM3, METTL6, MIR12127, MIR3134, MIR3714, MIR378B, MIR4270, MIR4790, MIR4791, MIR563, MIR885, MKRN2, MKRN2OS, MRPS25, MTMR14, NR2C2, NUP210, OGG1, OXNAD1, OXTR, PLCL2, PLCL2-AS1, PPARG, PRRT3, PRRT3-AS1, RAD18, RAF1, RBSN, RFTN1, RPL32, RPUSD3, SATB1, SATB1-AS1, SEC13, SETD5, SETMAR, SH3BP5, SH3BP5-AS1, SLC6A1, SLC6A1-AS1, SLC6A11, SLC6A6, SNORA7A, SNORA93, SRGAP3, SRGAP3-AS2, SRGAP3-AS3, SRGAP3-AS4, SSUH2, SUMF1, SYN2, TADA3, TAMM41, TATDN2, TBC1D5, THUMPD3, THUMPD3-AS1, TIMP4, TMEM40, TMEM43, TRNT1, TSEN2, TTLL3, VGLL4, VHL, WNT7A, XPC		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 5773618.	GRCh38/hg38 3p26.3-25.3(chr3:63843-9507969)x1 GRCh37: Chr3:105526-9549653 GRCh38: Chr3:63843-9507969	ARL8B, BHLHE40, BHLHE40-AS1, CAV3, CHL1, CHL1-AS1, CHL1-AS2, CNTN4, CNTN4-AS1, CNTN4-AS2, CNTN6, CRBN, EDEM1, EGOT, GRM7, GRM7-AS1, GRM7-AS2, GRM7-AS3, IL5RA, ITPR1, ITPR1-DT, LHFPL4, LINC00312, LINC01266, LMCD1, LMCD1-AS1, LOC100130207, LOC101927394, LOC107522028, LOC107522035, LOC111429626, LOC111501788, LOC112935931, LOC112935932, LOC115995504, LOC121009636, LOC121009637, LOC121725127, LOC122889017, LOC122889018, LOC122889019, LOC122889020, LOC122889021, LOC122889022, LOC122889023, LOC122889024, LOC122889025, LOC122889026, LOC122889027, LOC122889028, LOC126806585, LOC126806586, LOC126806587, LOC126806588, LOC126806589, LOC126806590, LOC126806591, LOC126806592, LOC126806593, LOC126806594, LOC126806595, LOC126806596, LOC126806597, LOC126806598, LOC126806599, LRRN1, MIR4790, OXTR, RAD18, SETD5, SETMAR, SRGAP3, SRGAP3-AS2, SRGAP3-AS3, SRGAP3-AS4, SSUH2, SUMF1, THUMPD3, THUMPD3-AS1, TRNT1		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 15563919.	GRCh38/hg38 3p26.3-25.3(chr3:688897-11051142)x1 GRCh37: Chr3:730581-11092828 GRCh38: Chr3:688897-11051142	ARL8B, ARPC4, ARPC4-TTLL3, ATP2B2, ATP2B2-IT2, BHLHE40, BHLHE40-AS1, BRK1, BRPF1, CAMK1, CAV3, CIDEC, CNTN4, CNTN4-AS1, CNTN4-AS2, CNTN6, CPNE9, CRBN, CRELD1, EDEM1, EGOT, EMC3, EMC3-AS1, FANCD2, FANCD2OS, GHRL, GHRLOS, GRM7, GRM7-AS1, GRM7-AS2, GRM7-AS3, IL17RC, IL17RE, IL5RA, IRAK2, ITPR1, ITPR1-DT, JAGN1, LHFPL4, LINC00312, LINC00606, LINC00852, LINC01266, LMCD1, LMCD1-AS1, LOC100130207, LOC101927394, LOC107303337, LOC107303338, LOC107303339, LOC107303340, LOC107303341, LOC107303342, LOC107522028, LOC107522035, LOC111501788, LOC112841609, LOC112935931, LOC112935932, LOC112935963, LOC114004374, LOC115995504, LOC121009636, LOC121009637, LOC121009638, LOC121009639, LOC121725127, LOC121725128, LOC121725129, LOC122889017, LOC122889018, LOC122889019, LOC122889020, LOC122889021, LOC122889022, LOC122889023, LOC122889024, LOC122889025, LOC122889026, LOC122889027, LOC122889028, LOC122889029, LOC122889030, LOC122889031, LOC122889032, LOC122889033, LOC126806587, LOC126806588, LOC126806589, LOC126806590, LOC126806591, LOC126806592, LOC126806593, LOC126806594, LOC126806595, LOC126806596, LOC126806597, LOC126806598, LOC126806599, LOC126806600, LOC401052, LRRN1, MIR12127, MIR378B, MIR4790, MIR885, MTMR14, OGG1, OXTR, PRRT3, PRRT3-AS1, RAD18, RPUSD3, SEC13, SETD5, SETMAR, SLC6A1, SLC6A1-AS1, SLC6A11, SRGAP3, SRGAP3-AS2, SRGAP3-AS3, SRGAP3-AS4, SSUH2, SUMF1, TADA3, TATDN2, THUMPD3, THUMPD3-AS1, TRNT1, TTLL3, VHL		See cases	Pathogenic (Mar 10, 2014)	no assertion criteria provided
Select item 15569920.	GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3 GRCh37: Chr3:7397797-14401942 GRCh38: Chr3:7356110-14360442	ARPC4, ARPC4-TTLL3, ATG7, ATP2B2, ATP2B2-IT2, BRK1, BRPF1, CAMK1, CAND2, CAV3, CHCHD4, CIDEC, CPNE9, CRELD1, EMC3, EMC3-AS1, FANCD2, FANCD2OS, FBLN2, GHRL, GHRLOS, GRM7, GRM7-AS1, HDAC11, HDAC11-AS1, HRH1, IL17RC, IL17RE, IQSEC1, IRAK2, JAGN1, LHFPL4, LINC00312, LINC00606, LINC00620, LINC00852, LINC01267, LINC02022, LMCD1, LMCD1-AS1, LOC101927394, LOC107303337, LOC107303338, LOC107303339, LOC107303340, LOC107303341, LOC107303342, LOC108254666, LOC112268445, LOC112841609, LOC112848342, LOC112903834, LOC112935963, LOC114004374, LOC114803475, LOC115995505, LOC115995506, LOC121009637, LOC121009638, LOC121009639, LOC121009640, LOC121009641, LOC121009642, LOC121009643, LOC121009644, LOC121725128, LOC121725129, LOC122889024, LOC122889025, LOC122889026, LOC122889027, LOC122889028, LOC122889029, LOC122889030, LOC122889031, LOC122889032, LOC122889033, LOC122889034, LOC122889035, LOC122889036, LOC122889037, LOC122889038, LOC122889039, LOC122889040, LOC122889041, LOC126806597, LOC126806598, LOC126806599, LOC126806600, LOC126806601, LOC126806602, LOC126806603, LOC126806604, LOC126806605, LOC126806606, LOC126806607, LOC126806608, LOC126806609, LOC126806610, LOC126806611, LOC126806612, LOC401052, LSM3, MIR12127, MIR378B, MIR885, MKRN2, MKRN2OS, MTMR14, NUP210, OGG1, OXTR, PPARG, PRRT3, PRRT3-AS1, RAD18, RAF1, RPL32, RPUSD3, SEC13, SETD5, SLC6A1, SLC6A1-AS1, SLC6A11, SNORA7A, SNORA93, SRGAP3, SRGAP3-AS2, SRGAP3-AS3, SRGAP3-AS4, SSUH2, SYN2, TADA3, TAMM41, TATDN2, THUMPD3, THUMPD3-AS1, TIMP4, TMEM40, TMEM43, TSEN2, TTLL3, VGLL4, VHL, WNT7A, XPC		See cases	Pathogenic (Jul 18, 2014)	no assertion criteria provided
Select item 14439521.	GRCh38/hg38 3p26.1-25.3(chr3:7401136-8995777)x3 GRCh37: Chr3:7442823-9037461 GRCh38: Chr3:7401136-8995777	CAV3, GRM7, GRM7-AS1, LINC00312, LMCD1, LMCD1-AS1, LOC101927394, LOC121009637, LOC122889024, LOC122889025, LOC122889026, LOC126806597, LOC126806598, LOC126806599, OXTR, RAD18, SRGAP3, SSUH2		See cases	Uncertain significance (Jan 30, 2010)	no assertion criteria provided
Select item 14823422.	GRCh38/hg38 3p26.1-25.2(chr3:7975734-12636917)x3 GRCh37: Chr3:8017421-12678416 GRCh38: Chr3:7975734-12636917	ARPC4, ARPC4-TTLL3, ATG7, ATP2B2, ATP2B2-IT2, BRK1, BRPF1, CAMK1, CAV3, CIDEC, CPNE9, CRELD1, EMC3, EMC3-AS1, FANCD2, FANCD2OS, GHRL, GHRLOS, HRH1, IL17RC, IL17RE, IRAK2, JAGN1, LHFPL4, LINC00312, LINC00606, LINC00852, LMCD1, LMCD1-AS1, LOC101927394, LOC107303337, LOC107303338, LOC107303339, LOC107303340, LOC107303341, LOC107303342, LOC112841609, LOC112848342, LOC112935963, LOC114004374, LOC114803475, LOC121009637, LOC121009638, LOC121009639, LOC121009640, LOC121725128, LOC121725129, LOC122889024, LOC122889025, LOC122889026, LOC122889027, LOC122889028, LOC122889029, LOC122889030, LOC122889031, LOC122889032, LOC122889033, LOC122889034, LOC122889035, LOC122889036, LOC122889037, LOC126806597, LOC126806598, LOC126806599, LOC126806600, LOC126806601, LOC126806602, LOC126806603, LOC126806604, LOC126806605, LOC126806606, LOC401052, MIR12127, MIR378B, MIR885, MKRN2, MKRN2OS, MTMR14, OGG1, OXTR, PPARG, PRRT3, PRRT3-AS1, RAD18, RAF1, RPUSD3, SEC13, SETD5, SLC6A1, SLC6A1-AS1, SLC6A11, SRGAP3, SRGAP3-AS2, SRGAP3-AS3, SRGAP3-AS4, SSUH2, SYN2, TADA3, TAMM41, TATDN2, THUMPD3, THUMPD3-AS1, TIMP4, TSEN2, TTLL3, VGLL4, VHL		See cases	Likely pathogenic (Aug 5, 2011)	no assertion criteria provided
Select item 5769623.	GRCh38/hg38 3p26.1-25.3(chr3:7975734-9038133)x3 GRCh37: Chr3:8017421-9079817 GRCh38: Chr3:7975734-9038133	CAV3, LINC00312, LMCD1, LMCD1-AS1, LOC101927394, LOC121009637, LOC122889024, LOC122889025, LOC122889026, LOC126806597, LOC126806598, LOC126806599, OXTR, RAD18, SRGAP3, SSUH2		See cases	Uncertain significance (Aug 12, 2011)	criteria provided, single submitter
Select item 14633624.	GRCh38/hg38 3p26.1-25.3(chr3:8038727-11240931)x4 GRCh37: Chr3:8080414-11282617 GRCh38: Chr3:8038727-11240931	ARPC4, ARPC4-TTLL3, ATP2B2, ATP2B2-IT2, BRK1, BRPF1, CAMK1, CAV3, CIDEC, CPNE9, CRELD1, EMC3, EMC3-AS1, FANCD2, FANCD2OS, GHRL, GHRLOS, HRH1, IL17RC, IL17RE, IRAK2, JAGN1, LHFPL4, LINC00312, LINC00606, LINC00852, LMCD1, LMCD1-AS1, LOC107303337, LOC107303338, LOC107303339, LOC107303340, LOC107303341, LOC107303342, LOC112841609, LOC112848342, LOC112935963, LOC114004374, LOC121009637, LOC121009638, LOC121009639, LOC121725128, LOC121725129, LOC122889024, LOC122889025, LOC122889026, LOC122889027, LOC122889028, LOC122889029, LOC122889030, LOC122889031, LOC122889032, LOC122889033, LOC126806597, LOC126806598, LOC126806599, LOC126806600, LOC126806601, LOC401052, MIR12127, MIR378B, MIR885, MTMR14, OGG1, OXTR, PRRT3, PRRT3-AS1, RAD18, RPUSD3, SEC13, SETD5, SLC6A1, SLC6A1-AS1, SLC6A11, SRGAP3, SRGAP3-AS2, SRGAP3-AS3, SRGAP3-AS4, SSUH2, TADA3, TATDN2, THUMPD3, THUMPD3-AS1, TTLL3, VHL		See cases	Likely pathogenic (Feb 18, 2011)	no assertion criteria provided
Select item 5769725.	GRCh38/hg38 3p26.1-25.3(chr3:8091665-8742586)x3 GRCh37: Chr3:8133352-8784272 GRCh38: Chr3:8091665-8742586	CAV3, LINC00312, LMCD1, LMCD1-AS1, LOC121009637, LOC122889024, LOC126806598, OXTR, SSUH2		See cases	Uncertain significance (Aug 12, 2011)	criteria provided, single submitter
Select item 15183426.	GRCh38/hg38 3p25.3(chr3:8320124-9395968)x1 GRCh37: Chr3:8361812-9437652 GRCh38: Chr3:8320124-9395968	CAV3, LINC00312, LMCD1, LMCD1-AS1, LOC121009637, LOC122889024, LOC122889025, LOC122889026, LOC126806598, LOC126806599, OXTR, RAD18, SRGAP3, SRGAP3-AS2, SRGAP3-AS3, SRGAP3-AS4, SSUH2, THUMPD3, THUMPD3-AS1		See cases	Pathogenic (Apr 30, 2011)	no assertion criteria provided
Select item 68330127.	NM_033337.2(CAV3):c.-410C>T GRCh37: Chr3:8775153 GRCh38: Chr3:8733467	CAV3		not provided	Benign (Jun 19, 2018)	criteria provided, single submitter
Select item 66981628.	NM_033337.2(CAV3):c.-348G>A GRCh37: Chr3:8775215 GRCh38: Chr3:8733529	CAV3		not provided	Likely benign (Jun 14, 2018)	criteria provided, single submitter
Select item 66962329.	NM_033337.2(CAV3):c.-343G>A GRCh37: Chr3:8775220 GRCh38: Chr3:8733534	CAV3		not provided	Likely benign (Jun 14, 2018)	criteria provided, single submitter
Select item 66864730.	NM_033337.2(CAV3):c.-340C>A GRCh37: Chr3:8775223 GRCh38: Chr3:8733537	CAV3		not provided	Benign (Jun 18, 2018)	criteria provided, single submitter
Select item 68016331.	NM_033337.2(CAV3):c.-268C>T GRCh37: Chr3:8775295 GRCh38: Chr3:8733609	CAV3		not provided	Likely benign (Jun 19, 2018)	criteria provided, single submitter
Select item 67189332.	NM_033337.2(CAV3):c.-184G>T GRCh37: Chr3:8775379 GRCh38: Chr3:8733693	CAV3		not provided	Benign (Jun 14, 2018)	criteria provided, single submitter
Select item 124712133.	Single allele GRCh37: Chr3:8775425 GRCh38: Chr3:8733739	CAV3		not provided	Benign (Mar 3, 2015)	criteria provided, single submitter
Select item 3172634.	NM_033337.2(CAV3):c.-122C>T GRCh37: Chr3:8775441 GRCh38: Chr3:8733755	CAV3		not provided	Benign (Mar 3, 2015)	criteria provided, single submitter
Select item 3174635.	NM_033337.2(CAV3):c.-106G>A GRCh37: Chr3:8775457 GRCh38: Chr3:8733771	CAV3		not provided	Benign (Mar 3, 2015)	criteria provided, single submitter
Select item 3175136.	NM_033337.2(CAV3):c.(?_-67)_(*898_?)del GRCh37: Chr3:8775496-8788451 GRCh38: Chr3:8733810-8746765	CAV3, OXTR		not provided	not provided (Apr 15, 2012)	no assertion provided
Select item 38609737.	NM_033337.3(CAV3):c.-48C>T GRCh37: Chr3:8775515 GRCh38: Chr3:8733829	CAV3		not specified	Likely benign (Jun 17, 2016)	criteria provided, single submitter
Select item 37762638.	NM_033337.3(CAV3):c.-47C>T GRCh37: Chr3:8775516 GRCh38: Chr3:8733830	CAV3		not specified	Benign (Apr 28, 2015)	criteria provided, single submitter
Select item 129244639.	NM_033337.3(CAV3):c.-46G>A GRCh37: Chr3:8775517 GRCh38: Chr3:8733831	CAV3		not provided	Benign (Mar 3, 2015)	criteria provided, single submitter
Select item 3173940.	NM_033337.3(CAV3):c.-37G>A GRCh37: Chr3:8775526 GRCh38: Chr3:8733840	CAV3		Limb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome, not specified, Caveolinopathy	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 38840341.	NM_033337.3(CAV3):c.-33G>A GRCh37: Chr3:8775530 GRCh38: Chr3:8733844	CAV3		not specified	Likely benign (Apr 20, 2017)	criteria provided, single submitter
Select item 18079542.	NM_033337.3(CAV3):c.-33G>T GRCh37: Chr3:8775530 GRCh38: Chr3:8733844	CAV3		Limb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome, not specified, Caveolinopathy	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 129244743.	NM_033337.3(CAV3):c.-31A>G GRCh37: Chr3:8775532 GRCh38: Chr3:8733846	CAV3		not provided	Benign (Mar 3, 2015)	criteria provided, single submitter
Select item 50666344.	NM_033337.3(CAV3):c.-29C>T GRCh37: Chr3:8775534 GRCh38: Chr3:8733848	CAV3		not specified	Likely benign (Apr 20, 2017)	criteria provided, single submitter
Select item 13666045.	NM_033337.3(CAV3):c.-15C>A GRCh37: Chr3:8775548 GRCh38: Chr3:8733862	CAV3		not specified	Benign (May 18, 2014)	criteria provided, single submitter
Select item 66286146.	NC_000003.12:g.(?_8733867)_(8745877_?)del GRCh37: Chr3:8775553-8787563 GRCh38: Chr3:8733867-8745877	CAV3, OXTR		Long QT syndrome	Pathogenic (Jan 21, 2019)	criteria provided, single submitter
Select item 64852747.	NC_000003.11:g.(?_8775553)_(8787563_?)dup GRCh37: Chr3:8775553-8787563 GRCh38: Chr3:8733867-8745877	CAV3, OXTR		Long QT syndrome	Uncertain significance (Dec 5, 2018)	criteria provided, single submitter
Select item 80940948.	NM_033337.3(CAV3):c.-2C>A GRCh37: Chr3:8775561 GRCh38: Chr3:8733875	CAV3		not provided	Likely benign (Aug 1, 2023)	criteria provided, single submitter
Select item 19347649.	NM_033337.3(CAV3):c.-2C>T GRCh37: Chr3:8775561 GRCh38: Chr3:8733875	CAV3		not specified, Cardiomyopathy, not provided	Conflicting interpretations of pathogenicity (Jul 26, 2017)	criteria provided, conflicting interpretations
Select item 4653150.	NM_033337.3(CAV3):c.-1G>A GRCh37: Chr3:8775562 GRCh38: Chr3:8733876	CAV3		Cardiovascular phenotype, not specified, not provided	Benign/Likely benign (Jan 25, 2019)	criteria provided, multiple submitters, no conflicts
Select item 86235651.	NM_033337.3(CAV3):c.5T>C (p.Met2Thr) GRCh37: Chr3:8775567 GRCh38: Chr3:8733881	CAV3	M2T	Long QT syndrome	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 40926152.	NM_033337.3(CAV3):c.6_7del (p.Met2fs) GRCh37: Chr3:8775568-8775569 GRCh38: Chr3:8733882-8733883	CAV3	M2fs	not specified, Long QT syndrome	Conflicting interpretations of pathogenicity (Jul 12, 2022)	criteria provided, conflicting interpretations
Select item 147948053.	NM_033337.3(CAV3):c.7G>A (p.Ala3Thr) GRCh37: Chr3:8775569 GRCh38: Chr3:8733883	CAV3	A3T	Long QT syndrome	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 29091954.	NM_033337.3(CAV3):c.10_17del (p.Glu4fs) GRCh37: Chr3:8775569-8775576 GRCh38: Chr3:8733883-8733890	CAV3	E4fs	Cardiovascular phenotype, not provided, Elevated circulating creatine kinase concentration, Long QT syndrome	Conflicting interpretations of pathogenicity (Jul 27, 2022)	criteria provided, conflicting interpretations
Select item 109961055.	NM_033337.3(CAV3):c.9A>G (p.Ala3=) GRCh37: Chr3:8775571 GRCh38: Chr3:8733885	CAV3		Long QT syndrome, Cardiovascular phenotype	Likely benign (Oct 24, 2020)	criteria provided, multiple submitters, no conflicts
Select item 13298256.	NM_033337.3(CAV3):c.13dup (p.Glu5fs) GRCh37: Chr3:8775574-8775575 GRCh38: Chr3:8733888-8733889	CAV3	E5fs	not provided	not provided	no assertion provided
Select item 61855157.	NM_033337.3(CAV3):c.15G>C (p.Glu5Asp) GRCh37: Chr3:8775577 GRCh38: Chr3:8733891	CAV3	E5D	not provided	Uncertain significance (Dec 8, 2017)	criteria provided, single submitter
Select item 222976658.	NM_033337.3(CAV3):c.17A>G (p.His6Arg) GRCh37: Chr3:8775579 GRCh38: Chr3:8733893	CAV3	H6R	Inborn genetic diseases	Uncertain significance (Nov 12, 2021)	criteria provided, single submitter
Select item 116382559.	NM_033337.3(CAV3):c.17A>T (p.His6Leu) GRCh37: Chr3:8775579 GRCh38: Chr3:8733893	CAV3	H6L	not provided, Long QT syndrome	Uncertain significance (Oct 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 178227460.	NM_033337.3(CAV3):c.18C>T (p.His6=) GRCh37: Chr3:8775580 GRCh38: Chr3:8733894	CAV3		Cardiovascular phenotype	Likely benign (Jan 11, 2022)	criteria provided, single submitter
Select item 129939061.	NM_033337.3(CAV3):c.22G>A (p.Asp8Asn) GRCh37: Chr3:8775584 GRCh38: Chr3:8733898	CAV3	D8N	Long QT syndrome 9	Uncertain significance (Mar 9, 2021)	criteria provided, single submitter
Select item 114075162.	NM_033337.3(CAV3):c.27C>G (p.Leu9=) GRCh37: Chr3:8775589 GRCh38: Chr3:8733903	CAV3		Long QT syndrome	Likely benign (Jan 2, 2020)	criteria provided, single submitter
Select item 3171663.	NM_033337.3(CAV3):c.27C>T (p.Leu9=) GRCh37: Chr3:8775589 GRCh38: Chr3:8733903	CAV3		Limb-Girdle Muscular Dystrophy, Dominant, Cardiovascular phenotype, Distal myopathy, Tateyama type, Rippling muscle disease 2, not specified, Congenital long QT syndrome, not provided, Long QT syndrome, Caveolinopathy	Benign/Likely benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18080364.	NM_033337.3(CAV3):c.28G>A (p.Glu10Lys) GRCh37: Chr3:8775590 GRCh38: Chr3:8733904	CAV3	E10K	Cardiovascular phenotype, Long QT syndrome, not specified	Conflicting interpretations of pathogenicity (Jul 12, 2022)	criteria provided, conflicting interpretations
Select item 13666165.	NM_033337.3(CAV3):c.30G>A (p.Glu10=) GRCh37: Chr3:8775592 GRCh38: Chr3:8733906	CAV3		Cardiovascular phenotype, not specified, Long QT syndrome	Benign/Likely benign (Mar 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 51954066.	NM_033337.3(CAV3):c.32C>T (p.Ala11Val) GRCh37: Chr3:8775594 GRCh38: Chr3:8733908	CAV3	A11V	Cardiovascular phenotype, not provided, Long QT syndrome	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102571267.	NM_033337.3(CAV3):c.35A>G (p.Gln12Arg) GRCh37: Chr3:8775597 GRCh38: Chr3:8733911	CAV3	Q12R	Long QT syndrome, Hypertrophic cardiomyopathy 1, Long QT syndrome 9, Distal myopathy, Tateyama type, Elevated circulating creatine kinase concentration, Rippling muscle disease 2	Uncertain significance (Aug 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 52692068.	NM_033337.3(CAV3):c.36G>T (p.Gln12His) GRCh37: Chr3:8775598 GRCh38: Chr3:8733912	CAV3	Q12H	Long QT syndrome	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 245281369.	NM_033337.3(CAV3):c.37A>G (p.Ile13Val) GRCh37: Chr3:8775599 GRCh38: Chr3:8733913	CAV3	I13V	Cardiovascular phenotype	Uncertain significance (Jan 5, 2023)	criteria provided, single submitter
Select item 20788270.	NM_033337.3(CAV3):c.37A>T (p.Ile13Phe) GRCh37: Chr3:8775599 GRCh38: Chr3:8733913	CAV3	I13F	Long QT syndrome	Likely pathogenic	no assertion criteria provided
Select item 17900571.	NM_033337.3(CAV3):c.39C>T (p.Ile13=) GRCh37: Chr3:8775601 GRCh38: Chr3:8733915	CAV3		Cardiovascular phenotype, not specified, Long QT syndrome, not provided	Benign/Likely benign (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16282772.	NM_033337.3(CAV3):c.40G>A (p.Val14Ile) GRCh37: Chr3:8775602 GRCh38: Chr3:8733916	CAV3	V14I	Cardiovascular phenotype, not specified, not provided, Long QT syndrome, Cardiomyopathy	Conflicting interpretations of pathogenicity (Oct 11, 2022)	criteria provided, conflicting interpretations
Select item 829573.	NM_033337.3(CAV3):c.40G>C (p.Val14Leu) GRCh37: Chr3:8775602 GRCh38: Chr3:8733916	CAV3	V14L	Long QT syndrome 9	Pathogenic (Feb 1, 2007)	no assertion criteria provided
Select item 142868374.	NM_033337.3(CAV3):c.46G>A (p.Asp16Asn) GRCh37: Chr3:8775608 GRCh38: Chr3:8733922	CAV3	D16N	Cardiovascular phenotype, Long QT syndrome	Uncertain significance (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 174398175.	NM_033337.3(CAV3):c.48T>C (p.Asp16=) GRCh37: Chr3:8775610 GRCh38: Chr3:8733924	CAV3		Cardiovascular phenotype	Likely benign (Jan 16, 2020)	criteria provided, single submitter
Select item 214204476.	NM_033337.3(CAV3):c.50T>C (p.Ile17Thr) GRCh37: Chr3:8775612 GRCh38: Chr3:8733926	CAV3	I17T	Long QT syndrome	Uncertain significance (Apr 4, 2022)	criteria provided, single submitter
Select item 50956977.	NM_033337.3(CAV3):c.51C>T (p.Ile17=) GRCh37: Chr3:8775613 GRCh38: Chr3:8733927	CAV3		not specified	Likely benign (May 15, 2017)	criteria provided, single submitter
Select item 18080478.	NM_033337.3(CAV3):c.53A>G (p.His18Arg) GRCh37: Chr3:8775615 GRCh38: Chr3:8733929	CAV3	H18R	not provided, Long QT syndrome	Uncertain significance (Oct 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 24174879.	NM_033337.3(CAV3):c.54C>T (p.His18=) GRCh37: Chr3:8775616 GRCh38: Chr3:8733930	CAV3		Long QT syndrome, not specified	Likely benign (Jun 9, 2016)	criteria provided, multiple submitters, no conflicts
Select item 103964380.	NM_033337.3(CAV3):c.55T>C (p.Cys19Arg) GRCh37: Chr3:8775617 GRCh38: Chr3:8733931	CAV3	C19R	Long QT syndrome, Cardiovascular phenotype	Uncertain significance (Jul 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 65129781.	NM_033337.3(CAV3):c.56G>A (p.Cys19Tyr) GRCh37: Chr3:8775618 GRCh38: Chr3:8733932	CAV3	C19Y	Long QT syndrome	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 95095982.	NM_033337.3(CAV3):c.57C>A (p.Cys19Ter) GRCh37: Chr3:8775619 GRCh38: Chr3:8733933	CAV3	C19*	not provided, Cardiovascular phenotype, Long QT syndrome	Conflicting interpretations of pathogenicity (Dec 2, 2022)	criteria provided, conflicting interpretations
Select item 171507383.	NM_033337.3(CAV3):c.58A>C (p.Lys20Gln) GRCh37: Chr3:8775620 GRCh38: Chr3:8733934	CAV3	K20Q	Long QT syndrome	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 104629984.	NM_033337.3(CAV3):c.58A>G (p.Lys20Glu) GRCh37: Chr3:8775620 GRCh38: Chr3:8733934	CAV3	K20E	Long QT syndrome	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 175162285.	NM_033337.3(CAV3):c.60G>T (p.Lys20Asn) GRCh37: Chr3:8775622 GRCh38: Chr3:8733936	CAV3	K20N	Cardiovascular phenotype	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 79809086.	NM_033337.3(CAV3):c.60G>A (p.Lys20=) GRCh37: Chr3:8775622 GRCh38: Chr3:8733936	CAV3		Hypertrophic cardiomyopathy 1, Distal myopathy, Tateyama type, Long QT syndrome 9, Elevated circulating creatine kinase concentration, Rippling muscle disease 2, Long QT syndrome, Cardiovascular phenotype	Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 154081587.	NM_033337.3(CAV3):c.63G>A (p.Glu21=) GRCh37: Chr3:8775625 GRCh38: Chr3:8733939	CAV3		Long QT syndrome	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 93137688.	NM_033337.3(CAV3):c.65T>C (p.Ile22Thr) GRCh37: Chr3:8775627 GRCh38: Chr3:8733941	CAV3	I22T	Rippling muscle disease 2, Cardiovascular phenotype, Long QT syndrome	Uncertain significance (Aug 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 103829989.	NM_033337.3(CAV3):c.71T>C (p.Leu24Pro) GRCh37: Chr3:8775633 GRCh38: Chr3:8733947	CAV3	L24P	Long QT syndrome	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 250607490.	NM_033337.3(CAV3):c.72G>A (p.Leu24=) GRCh37: Chr3:8775634 GRCh38: Chr3:8733948	CAV3		not specified	Likely benign (May 23, 2023)	criteria provided, single submitter
Select item 84668991.	NM_033337.3(CAV3):c.79C>T (p.Arg27Ter) GRCh37: Chr3:8775641 GRCh38: Chr3:8733955	CAV3	R27*	Long QT syndrome	Pathogenic (Oct 28, 2022)	criteria provided, single submitter
Select item 3172292.	NM_033337.3(CAV3):c.79C>G (p.Arg27Gly) GRCh37: Chr3:8775641 GRCh38: Chr3:8733955	CAV3	R27G	Long QT syndrome	Pathogenic (Aug 21, 2022)	criteria provided, single submitter
Select item 3174793.	NM_033337.3(CAV3):c.80G>C (p.Arg27Pro) GRCh37: Chr3:8775642 GRCh38: Chr3:8733956	CAV3	R27P	Long QT syndrome	Likely pathogenic (Sep 6, 2022)	criteria provided, single submitter
Select item 828394.	NM_033337.3(CAV3):c.80G>A (p.Arg27Gln) GRCh37: Chr3:8775642 GRCh38: Chr3:8733956	CAV3, SSUH2	R27Q	Rippling muscle disease 2, Distal myopathy, Tateyama type, Long QT syndrome 9, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy 1, not provided, Long QT syndrome, Distal myopathy, Tateyama type, Rippling muscle disease 2	Pathogenic (Sep 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99533195.	NM_033337.3(CAV3):c.84C>G (p.Asp28Glu) GRCh37: Chr3:8775646 GRCh38: Chr3:8733960	CAV3	D28E	not provided	Likely pathogenic (Aug 6, 2020)	criteria provided, single submitter
Select item 828096.	NM_033337.3(CAV3):c.84C>A (p.Asp28Glu) GRCh37: Chr3:8775646 GRCh38: Chr3:8733960	CAV3	D28E	Rippling muscle disease 2	Pathogenic (Jan 1, 2005)	no assertion criteria provided
Select item 52691897.	NM_033337.3(CAV3):c.85C>T (p.Pro29Ser) GRCh37: Chr3:8775647 GRCh38: Chr3:8733961	CAV3	P29S	Long QT syndrome	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 3171298.	NM_033337.3(CAV3):c.85C>A (p.Pro29Thr) GRCh37: Chr3:8775647 GRCh38: Chr3:8733961	CAV3	P29T	not provided	not provided (Apr 15, 2012)	no assertion provided
Select item 146369399.	NM_033337.3(CAV3):c.86C>A (p.Pro29His) GRCh37: Chr3:8775648 GRCh38: Chr3:8733962	CAV3	P29H	Long QT syndrome	Uncertain significance (Nov 13, 2021)	criteria provided, single submitter
Select item 8287100.	NM_033337.3(CAV3):c.86C>T (p.Pro29Leu) GRCh37: Chr3:8775648 GRCh38: Chr3:8733962	CAV3	P29L	Elevated circulating creatine kinase concentration	Pathogenic (Jan 1, 2005)	no assertion criteria provided

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