SETD5[gene] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1532841.	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 1552582.	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 1551063.	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 1515344.	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 1503935.	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 1500316.	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 1493317.	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 1490858.	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 1489429.	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 14887610.	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 14801511.	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 5770812.	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 5739713.	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 15341514.	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 5797715.	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 5773616.	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 15563917.	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 15569918.	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 14823419.	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 14633620.	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 14825421.	GRCh38/hg38 3p25.3(chr3:8812036-9953438)x3 GRCh37: Chr3:8853722-9995122 GRCh38: Chr3:8812036-9953438	ARPC4, ARPC4-TTLL3, BRPF1, CAMK1, CIDEC, CPNE9, CRELD1, IL17RC, IL17RE, JAGN1, LHFPL4, LOC107303337, LOC112935963, LOC121009638, LOC122889025, LOC122889026, LOC122889027, LOC122889028, LOC122889029, LOC122889030, LOC126806599, MTMR14, OGG1, PRRT3, PRRT3-AS1, RAD18, RPUSD3, SETD5, SRGAP3, SRGAP3-AS2, SRGAP3-AS3, SRGAP3-AS4, TADA3, THUMPD3, THUMPD3-AS1, TTLL3		See cases	Uncertain significance (Apr 8, 2011)	no assertion criteria provided
Select item 14953622.	GRCh38/hg38 3p25.3(chr3:8941623-10151752)x3 GRCh37: Chr3:8983307-10193436 GRCh38: Chr3:8941623-10151752	EMC3, EMC3-AS1, FANCD2, FANCD2OS, IL17RC, IL17RE, JAGN1, LHFPL4, LOC107303337, LOC107303338, LOC107303339, LOC107303340, LOC112935963, LOC121009638, LOC122889025, LOC122889026, LOC122889027, LOC122889028, LOC122889029, LOC122889030, LOC126806600, LOC401052, MTMR14, OGG1, PRRT3, PRRT3-AS1, RAD18, RPUSD3, SETD5, SRGAP3, SRGAP3-AS2, SRGAP3-AS3, SRGAP3-AS4, TADA3, THUMPD3, THUMPD3-AS1, TTLL3, VHL, ARPC4, ARPC4-TTLL3, BRK1, BRPF1, CAMK1, CIDEC, CPNE9, CRELD1		See cases	Uncertain significance (Aug 13, 2012)	no assertion criteria provided
Select item 15050523.	GRCh38/hg38 3p25.3(chr3:9142303-9793982)x3 GRCh37: Chr3:9183987-9835666 GRCh38: Chr3:9142303-9793982	ARPC4, ARPC4-TTLL3, BRPF1, CAMK1, CPNE9, LHFPL4, LOC121009638, LOC122889027, LOC122889028, MTMR14, OGG1, SETD5, SRGAP3, SRGAP3-AS2, SRGAP3-AS3, SRGAP3-AS4, TADA3, THUMPD3, THUMPD3-AS1		See cases	Uncertain significance (Sep 4, 2012)	no assertion criteria provided
Select item 5719924.	GRCh38/hg38 3p25.3(chr3:9221810-9727021)x3 GRCh37: Chr3:9263494-9768705 GRCh38: Chr3:9221810-9727021	CPNE9, LHFPL4, LOC122889027, LOC122889028, MTMR14, SETD5, SRGAP3, SRGAP3-AS4, THUMPD3, THUMPD3-AS1		See cases	Uncertain significance (Aug 12, 2011)	criteria provided, single submitter
Select item 5774125.	GRCh38/hg38 3p25.3(chr3:9393349-9956171)x1 GRCh37: Chr3:9435033-9997855 GRCh38: Chr3:9393349-9956171	ARPC4, ARPC4-TTLL3, BRPF1, CAMK1, CIDEC, CPNE9, CRELD1, IL17RC, IL17RE, JAGN1, LHFPL4, LOC107303337, LOC112935963, LOC121009638, LOC122889027, LOC122889028, LOC122889029, LOC122889030, MTMR14, OGG1, PRRT3, PRRT3-AS1, RPUSD3, SETD5, TADA3, THUMPD3-AS1, TTLL3		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 14835926.	GRCh38/hg38 3p25.3-25.2(chr3:9394874-11690612)x1 GRCh37: Chr3:9436558-11732086 GRCh38: Chr3:9394874-11690612	ARPC4, ARPC4-TTLL3, ATG7, ATP2B2, ATP2B2-IT2, BRK1, BRPF1, CAMK1, CIDEC, CPNE9, CRELD1, EMC3, EMC3-AS1, FANCD2, FANCD2OS, GHRL, GHRLOS, HRH1, IL17RC, IL17RE, IRAK2, JAGN1, LHFPL4, LINC00606, LINC00852, LOC107303337, LOC107303338, LOC107303339, LOC107303340, LOC107303341, LOC107303342, LOC112841609, LOC112848342, LOC112935963, LOC114004374, LOC121009638, LOC121009639, LOC121725128, LOC121725129, LOC122889027, LOC122889028, LOC122889029, LOC122889030, LOC122889031, LOC122889032, LOC122889033, LOC122889034, LOC126806600, LOC126806601, LOC126806602, LOC126806603, LOC401052, MIR12127, MIR378B, MIR885, MTMR14, OGG1, PRRT3, PRRT3-AS1, RPUSD3, SEC13, SETD5, SLC6A1, SLC6A1-AS1, SLC6A11, TADA3, TATDN2, THUMPD3-AS1, TTLL3, VGLL4, VHL		See cases	Pathogenic (Apr 21, 2011)	no assertion criteria provided
Select item 169584327.	NM_001080517.3(SETD5):c.-4C>T GRCh37: Chr3:9470619 GRCh38: Chr3:9428935	SETD5		not provided	Uncertain significance (Jan 10, 2022)	criteria provided, single submitter
Select item 136720128.	NM_001080517.3(SETD5):c.13A>G (p.Ile5Val) GRCh37: Chr3:9470635 GRCh38: Chr3:9428951	SETD5	I5V	not provided	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 218185029.	NM_001080517.3(SETD5):c.14T>A (p.Ile5Asn) GRCh37: Chr3:9470636 GRCh38: Chr3:9428952	SETD5	I5N	not provided	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 180577730.	NM_001080517.3(SETD5):c.25G>T (p.Val9Phe) GRCh37: Chr3:9470647 GRCh38: Chr3:9428963	SETD5	V9F	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	Uncertain significance (May 21, 2020)	criteria provided, single submitter
Select item 194413831.	NM_001080517.3(SETD5):c.35C>T (p.Ser12Leu) GRCh37: Chr3:9470657 GRCh38: Chr3:9428973	SETD5	S12L	not provided	Uncertain significance (Jul 24, 2022)	criteria provided, single submitter
Select item 168509532.	NM_001080517.3(SETD5):c.51A>G (p.Ser17=) GRCh37: Chr3:9470673 GRCh38: Chr3:9428989	SETD5		not specified	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 170038433.	NM_001080517.3(SETD5):c.67T>G (p.Ser23Ala) GRCh37: Chr3:9470689 GRCh38: Chr3:9429005	SETD5	S23A	not provided	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 169043834.	NM_001080517.3(SETD5):c.71+3A>G GRCh37: Chr3:9470696 GRCh38: Chr3:9429012	SETD5		See cases	Uncertain significance (Sep 14, 2021)	criteria provided, single submitter
Select item 192345435.	NM_001080517.3(SETD5):c.71+19G>A GRCh37: Chr3:9470712 GRCh38: Chr3:9429028	SETD5		not provided	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 164578936.	NM_001080517.3(SETD5):c.72-9T>C GRCh37: Chr3:9475520 GRCh38: Chr3:9433836	SETD5		not provided	Likely benign (Apr 23, 2022)	criteria provided, single submitter
Select item 93041437.	NM_001080517.3(SETD5):c.73C>G (p.Pro25Ala) GRCh37: Chr3:9475530 GRCh38: Chr3:9433846	SETD5	P25A	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	Uncertain significance (Feb 14, 2019)	criteria provided, single submitter
Select item 137599638.	NM_001080517.3(SETD5):c.113G>A (p.Ser38Asn) GRCh37: Chr3:9475570 GRCh38: Chr3:9433886	SETD5	S38N	not provided	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 119919139.	NM_001080517.3(SETD5):c.116T>G (p.Val39Gly) GRCh37: Chr3:9475573 GRCh38: Chr3:9433889	SETD5	V39G	SETD5-related syndromic intellectual disability	Uncertain significance (Dec 16, 2020)	criteria provided, single submitter
Select item 71319740.	NM_001080517.3(SETD5):c.123C>A (p.Ser41=) GRCh37: Chr3:9475580 GRCh38: Chr3:9433896	SETD5		not provided	Benign/Likely benign (Feb 3, 2020)	criteria provided, multiple submitters, no conflicts
Select item 222771441.	NM_001080517.3(SETD5):c.128A>G (p.His43Arg) GRCh37: Chr3:9475585 GRCh38: Chr3:9433901	SETD5	H43R	Inborn genetic diseases	Likely benign (May 17, 2021)	criteria provided, single submitter
Select item 155629142.	NM_001080517.3(SETD5):c.141C>T (p.Thr47=) GRCh37: Chr3:9475598 GRCh38: Chr3:9433914	SETD5		not provided	Likely benign (Nov 30, 2021)	criteria provided, single submitter
Select item 151983643.	NM_001080517.3(SETD5):c.150G>C (p.Arg50Ser) GRCh37: Chr3:9475607 GRCh38: Chr3:9433923	SETD5	R50S	not provided	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 131098844.	NM_001080517.3(SETD5):c.161G>A (p.Arg54Gln) GRCh37: Chr3:9475618 GRCh38: Chr3:9433934	SETD5	R54Q	not provided	Uncertain significance (Mar 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 228404245.	NM_001080517.3(SETD5):c.173A>G (p.Tyr58Cys) GRCh37: Chr3:9475630 GRCh38: Chr3:9433946	SETD5	Y58C	Inborn genetic diseases	Uncertain significance (Apr 14, 2022)	criteria provided, single submitter
Select item 98841246.	NM_001080517.3(SETD5):c.174T>A (p.Tyr58Ter) GRCh37: Chr3:9475631 GRCh38: Chr3:9433947	SETD5	Y58*	not provided	Pathogenic (Oct 17, 2017)	criteria provided, single submitter
Select item 157035647.	NM_001080517.3(SETD5):c.177+11A>G GRCh37: Chr3:9475645 GRCh38: Chr3:9433961	SETD5		not provided	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 121899348.	NM_001080517.3(SETD5):c.178-114T>C GRCh37: Chr3:9475904 GRCh38: Chr3:9434220	SETD5		not provided	Likely benign (Jun 7, 2020)	criteria provided, single submitter
Select item 150113149.	NM_001080517.3(SETD5):c.178-3C>G GRCh37: Chr3:9476015 GRCh38: Chr3:9434331	SETD5		not provided	Uncertain significance (Jan 14, 2022)	criteria provided, single submitter
Select item 212865950.	NM_001080517.3(SETD5):c.180G>T (p.Thr60_Ile61=) GRCh37: Chr3:9476020 GRCh38: Chr3:9434336	SETD5		not provided	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 198700951.	NM_001080517.3(SETD5):c.180G>A (p.Thr60_Ile61=) GRCh37: Chr3:9476020 GRCh38: Chr3:9434336	SETD5		not provided	Likely benign (Jun 20, 2022)	criteria provided, single submitter
Select item 228068552.	NM_001080517.3(SETD5):c.190C>T (p.Arg64Cys) GRCh37: Chr3:9476030 GRCh38: Chr3:9434346	SETD5	R64C	Inborn genetic diseases	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 122380653.	NM_001080517.3(SETD5):c.191G>A (p.Arg64His) GRCh37: Chr3:9476031 GRCh38: Chr3:9434347	SETD5	R64H	Inborn genetic diseases, not provided	Likely benign (Nov 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 73600354.	NM_001080517.3(SETD5):c.191G>C (p.Arg64Pro) GRCh37: Chr3:9476031 GRCh38: Chr3:9434347	SETD5	R64P	not provided	Likely benign (Mar 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 154881655.	NM_001080517.3(SETD5):c.213G>A (p.Pro71=) GRCh37: Chr3:9476053 GRCh38: Chr3:9434369	SETD5		not provided	Benign (Oct 21, 2022)	criteria provided, single submitter
Select item 219146456.	NM_001080517.3(SETD5):c.215C>T (p.Ser72Leu) GRCh37: Chr3:9476055 GRCh38: Chr3:9434371	SETD5	S72L	not provided	Uncertain significance (Oct 27, 2022)	criteria provided, single submitter
Select item 212327457.	NM_001080517.3(SETD5):c.229C>A (p.Arg77Ser) GRCh37: Chr3:9476069 GRCh38: Chr3:9434385	SETD5	R77S	not provided	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 78037358.	NM_001080517.3(SETD5):c.230G>A (p.Arg77His) GRCh37: Chr3:9476070 GRCh38: Chr3:9434386	SETD5	R77H	not provided	Benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 122837159.	NM_001080517.3(SETD5):c.242G>A (p.Ser81Asn) GRCh37: Chr3:9476082 GRCh38: Chr3:9434398	SETD5	S81N	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	Uncertain significance (Jun 2, 2021)	criteria provided, single submitter
Select item 43669260.	NM_001080517.3(SETD5):c.245C>T (p.Pro82Leu) GRCh37: Chr3:9476085 GRCh38: Chr3:9434401	SETD5	P82L	not specified, not provided	Uncertain significance (Aug 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 212997061.	NM_001080517.3(SETD5):c.262A>G (p.Thr88Ala) GRCh37: Chr3:9476102 GRCh38: Chr3:9434418	SETD5	T88A	not provided	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 151141762.	NM_001080517.3(SETD5):c.263C>A (p.Thr88Asn) GRCh37: Chr3:9476103 GRCh38: Chr3:9434419	SETD5	T88N	not provided	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 170030663.	NM_001080517.3(SETD5):c.278G>A (p.Cys93Tyr) GRCh37: Chr3:9476118 GRCh38: Chr3:9434434	SETD5	C93Y	not provided	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 181063164.	NM_001080517.3(SETD5):c.293C>G (p.Ser98Cys) GRCh37: Chr3:9476133 GRCh38: Chr3:9434449	SETD5	S98C	not provided	Uncertain significance (Jul 7, 2022)	criteria provided, single submitter
Select item 73746365.	NM_001080517.3(SETD5):c.312C>T (p.Leu104=) GRCh37: Chr3:9476152 GRCh38: Chr3:9434468	SETD5		not provided	Likely benign (Jun 28, 2021)	criteria provided, single submitter
Select item 244473666.	NM_001080517.3(SETD5):c.327C>T (p.Cys109_Arg110=) GRCh37: Chr3:9476167 GRCh38: Chr3:9434483	SETD5		not provided	Uncertain significance (Sep 15, 2022)	criteria provided, single submitter
Select item 214474467.	NM_001080517.3(SETD5):c.328A>G (p.Arg110Gly) GRCh37: Chr3:9476168 GRCh38: Chr3:9434484	SETD5	R110G	not provided	Uncertain significance (Oct 1, 2022)	criteria provided, single submitter
Select item 43247068.	NM_001080517.3(SETD5):c.329+5G>A GRCh37: Chr3:9476174 GRCh38: Chr3:9434490	SETD5		not provided	Uncertain significance (Jun 7, 2018)	criteria provided, single submitter
Select item 190116269.	NM_001080517.3(SETD5):c.329+11G>T GRCh37: Chr3:9476180 GRCh38: Chr3:9434496	SETD5		not provided	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 212303870.	NM_001080517.3(SETD5):c.329+14C>T GRCh37: Chr3:9476183 GRCh38: Chr3:9434499	SETD5		not provided	Likely benign (Oct 18, 2022)	criteria provided, single submitter
Select item 133723671.	NM_001080517.3(SETD5):c.330-6C>T GRCh37: Chr3:9476502 GRCh38: Chr3:9434818	SETD5		not specified	Uncertain significance (Oct 24, 2019)	criteria provided, single submitter
Select item 43668272.	NM_001080517.3(SETD5):c.330-3T>C GRCh37: Chr3:9476505 GRCh38: Chr3:9434821	SETD5		not specified	Uncertain significance (Jul 22, 2016)	criteria provided, single submitter
Select item 97577273.	NM_001080517.3(SETD5):c.345dup (p.Lys116fs) GRCh37: Chr3:9476518-9476519 GRCh38: Chr3:9434834-9434835	SETD5	K116fs, K5fs	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	Pathogenic (Jan 1, 2019)	no assertion criteria provided
Select item 87191874.	NM_001080517.3(SETD5):c.343G>C (p.Gly115Arg) GRCh37: Chr3:9476521 GRCh38: Chr3:9434837	SETD5	G115R, G4R	not provided	Uncertain significance (Jun 1, 2020)	criteria provided, single submitter
Select item 193076875.	NM_001080517.3(SETD5):c.345G>A (p.Gly115_Lys116=) GRCh37: Chr3:9476523 GRCh38: Chr3:9434839	SETD5		not provided	Likely benign (Apr 17, 2022)	criteria provided, single submitter
Select item 102853576.	NM_001080517.3(SETD5):c.346A>C (p.Lys116Gln) GRCh37: Chr3:9476524 GRCh38: Chr3:9434840	SETD5	K116Q, K5Q	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	Uncertain significance (Jul 27, 2020)	criteria provided, single submitter
Select item 130157177.	NM_001080517.3(SETD5):c.358C>T (p.Leu120Phe) GRCh37: Chr3:9476536 GRCh38: Chr3:9434852	SETD5	L120F, L9F	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	Uncertain significance (Feb 18, 2021)	criteria provided, single submitter
Select item 93663478.	NM_001080517.3(SETD5):c.365G>A (p.Arg122Gln) GRCh37: Chr3:9476543 GRCh38: Chr3:9434859	SETD5	R11Q, R122Q	not provided	Likely benign (Aug 2, 2022)	criteria provided, single submitter
Select item 196991779.	NM_001080517.3(SETD5):c.366G>A (p.Arg122_Arg123=) GRCh37: Chr3:9476544 GRCh38: Chr3:9434860	SETD5		not provided	Likely benign (May 3, 2022)	criteria provided, single submitter
Select item 23557580.	NM_001080517.3(SETD5):c.382A>G (p.Ile128Val) GRCh37: Chr3:9476560 GRCh38: Chr3:9434876	SETD5	I128V, I17V	not provided	Conflicting interpretations of pathogenicity (Aug 15, 2022)	criteria provided, conflicting interpretations
Select item 153456481.	NM_001080517.3(SETD5):c.388+7G>A GRCh37: Chr3:9476573 GRCh38: Chr3:9434889	SETD5		not provided	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 191527282.	NM_001080517.3(SETD5):c.389-20A>G GRCh37: Chr3:9477392 GRCh38: Chr3:9435708	SETD5		not provided	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 180345083.	NM_001080517.3(SETD5):c.389G>T (p.Gly130Val) GRCh37: Chr3:9477412 GRCh38: Chr3:9435728	SETD5	G130V, G19V	not provided	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 169345884.	NM_001080517.3(SETD5):c.389G>A (p.Gly130Asp) GRCh37: Chr3:9477412 GRCh38: Chr3:9435728	SETD5	G130D, G19D	not provided	Uncertain significance (Jun 30, 2022)	criteria provided, single submitter
Select item 194034185.	NM_001080517.3(SETD5):c.390T>C (p.Gly130_Gly131=) GRCh37: Chr3:9477413 GRCh38: Chr3:9435729	SETD5		not provided	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 130665186.	NM_001080517.3(SETD5):c.415T>G (p.Trp139Gly) GRCh37: Chr3:9477438 GRCh38: Chr3:9435754	SETD5	W139G, W28G	not provided	Uncertain significance (Jul 13, 2019)	criteria provided, single submitter
Select item 187884987.	NM_001080517.3(SETD5):c.433C>T (p.Pro145Ser) GRCh37: Chr3:9477456 GRCh38: Chr3:9435772	SETD5	P145S, P34S	not provided	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 160302888.	NM_001080517.3(SETD5):c.456A>C (p.Ala152=) GRCh37: Chr3:9477479 GRCh38: Chr3:9435795	SETD5		not provided	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 193126989.	NM_001080517.3(SETD5):c.486A>G (p.Leu162_Thr163=) GRCh37: Chr3:9477509 GRCh38: Chr3:9435825	SETD5		not provided	Likely benign (May 19, 2022)	criteria provided, single submitter
Select item 152787790.	NM_001080517.3(SETD5):c.489dup (p.Val164fs) GRCh37: Chr3:9477511-9477512 GRCh38: Chr3:9435827-9435828	SETD5	V164fs, V53fs	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	Pathogenic (Feb 7, 2022)	criteria provided, single submitter
Select item 206513091.	NM_001080517.3(SETD5):c.492T>C (p.Val164_Arg165=) GRCh37: Chr3:9477515 GRCh38: Chr3:9435831	SETD5		not provided	Uncertain significance (Dec 29, 2021)	criteria provided, single submitter
Select item 120185392.	NM_001080517.3(SETD5):c.504A>C (p.Lys168Asn) GRCh37: Chr3:9477527 GRCh38: Chr3:9435843	SETD5	K168N, K57N	not provided	Conflicting interpretations of pathogenicity (Jul 23, 2022)	criteria provided, conflicting interpretations
Select item 25252593.	NM_001080517.3(SETD5):c.521A>G (p.Lys174Arg) GRCh37: Chr3:9477544 GRCh38: Chr3:9435860	SETD5	K174R, K63R	not specified, not provided	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 137580394.	NM_001080517.3(SETD5):c.526C>G (p.Pro176Ala) GRCh37: Chr3:9477549 GRCh38: Chr3:9435865	SETD5	P65A, P176A	not provided, Inborn genetic diseases	Likely benign (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132198895.	NM_001080517.3(SETD5):c.536del (p.Gly179fs) GRCh37: Chr3:9477557 GRCh38: Chr3:9435873	SETD5	G179fs, G68fs	Neurodevelopmental disorder	Pathogenic (Oct 19, 2021)	criteria provided, single submitter
Select item 170497696.	NM_001080517.3(SETD5):c.535G>T (p.Gly179Cys) GRCh37: Chr3:9477558 GRCh38: Chr3:9435874	SETD5	G179C, G68C	not provided	Uncertain significance (Mar 8, 2022)	criteria provided, single submitter
Select item 39355097.	NM_001080517.3(SETD5):c.538C>T (p.Arg180Cys) GRCh37: Chr3:9477561 GRCh38: Chr3:9435877	SETD5	R180C, R69C	not provided, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 120528098.	NM_001080517.3(SETD5):c.541G>A (p.Ala181Thr) GRCh37: Chr3:9477564 GRCh38: Chr3:9435880	SETD5	A181T, A70T	not provided, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	Likely benign (Apr 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43668399.	NM_001080517.3(SETD5):c.543A>G (p.Ala181=) GRCh37: Chr3:9477566 GRCh38: Chr3:9435882	SETD5		not specified, not provided	Likely benign (May 26, 2020)	criteria provided, multiple submitters, no conflicts
Select item 219199100.	NM_001080517.3(SETD5):c.547_567+60del GRCh37: Chr3:9477566-9477646 GRCh38: Chr3:9435882-9435962	SETD5		Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	Pathogenic (Aug 20, 2014)	no assertion criteria provided

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