CRELD1[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 1500314.	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 1493315.	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 1490856.	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 1489427.	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 1488768.	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 577089.	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 5739710.	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 15341511.	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 5797712.	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 15563913.	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 15569914.	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 14823415.	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 14633616.	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 14825417.	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 14953618.	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 5774119.	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 14835920.	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 14415921.	GRCh38/hg38 3p25.3(chr3:9624696-10039318)x1 GRCh37: Chr3:9666380-10081002 GRCh38: Chr3:9624696-10039318	ARPC4, ARPC4-TTLL3, BRPF1, CAMK1, CIDEC, CPNE9, CRELD1, EMC3, EMC3-AS1, FANCD2, IL17RC, IL17RE, JAGN1, LOC107303337, LOC107303338, LOC112935963, LOC121009638, LOC122889029, LOC122889030, LOC126806600, LOC401052, MTMR14, OGG1, PRRT3, PRRT3-AS1, RPUSD3, TADA3, TTLL3		See cases	Uncertain significance (Sep 18, 2013)	no assertion criteria provided
Select item 5774222.	GRCh38/hg38 3p25.3(chr3:9654297-10228687)x1 GRCh37: Chr3:9695981-10270371 GRCh38: Chr3:9654297-10228687	ARPC4, ARPC4-TTLL3, BRK1, BRPF1, CAMK1, CIDEC, CPNE9, CRELD1, EMC3, EMC3-AS1, FANCD2, FANCD2OS, IL17RC, IL17RE, IRAK2, JAGN1, LOC107303337, LOC107303338, LOC107303339, LOC107303340, LOC107303341, LOC112935963, LOC121009638, LOC121725128, LOC122889029, LOC122889030, LOC122889031, LOC126806600, LOC401052, MTMR14, OGG1, PRRT3, PRRT3-AS1, RPUSD3, TADA3, TTLL3, VHL		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 14868723.	GRCh38/hg38 3p25.3(chr3:9875909-10572677)x1 GRCh37: Chr3:9917593-10614361 GRCh38: Chr3:9875909-10572677	ATP2B2, BRK1, CIDEC, CRELD1, EMC3, EMC3-AS1, FANCD2, FANCD2OS, GHRL, GHRLOS, IL17RC, IL17RE, IRAK2, JAGN1, LINC00852, LOC107303337, LOC107303338, LOC107303339, LOC107303340, LOC107303341, LOC107303342, LOC112935963, LOC114004374, LOC121009639, LOC121725128, LOC121725129, LOC122889031, LOC122889032, LOC126806600, LOC401052, MIR12127, MIR378B, MIR885, PRRT3, PRRT3-AS1, SEC13, TATDN2, VHL		See cases	Pathogenic (Sep 12, 2011)	no assertion criteria provided
Select item 14484524.	GRCh38/hg38 3p25.3(chr3:9896061-10220962)x1 GRCh37: Chr3:9937745-10262646 GRCh38: Chr3:9896061-10220962	BRK1, CRELD1, EMC3, EMC3-AS1, FANCD2, FANCD2OS, IL17RC, IL17RE, IRAK2, LOC107303337, LOC107303338, LOC107303339, LOC107303340, LOC107303341, LOC112935963, LOC121725128, LOC126806600, LOC401052, PRRT3, PRRT3-AS1, VHL		See cases	Pathogenic (Nov 30, 2010)	no assertion criteria provided
Select item 116486425.	NM_153460.4(IL17RC):c.2133C>G (p.Gly711=) GRCh37: Chr3:9975247 GRCh38: Chr3:9933563	CRELD1, IL17RC		Candidiasis, familial, 9, not provided	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 125349326.	Single allele GRCh37: Chr3:9975353 GRCh38: Chr3:9933669	CRELD1		not provided	Benign (Nov 10, 2018)	criteria provided, single submitter
Select item 125797327.	Single allele GRCh37: Chr3:9975386 GRCh38: Chr3:9933702	CRELD1		not provided	Benign (Nov 10, 2018)	criteria provided, single submitter
Select item 125981628.	NM_001077415.3(CRELD1):c.-52C>T GRCh37: Chr3:9975572 GRCh38: Chr3:9933888	CRELD1		not provided	Benign (May 11, 2021)	criteria provided, single submitter
Select item 127951229.	NM_001077415.3(CRELD1):c.-19-244T>C GRCh37: Chr3:9975860 GRCh38: Chr3:9934176	CRELD1		not provided	Benign (May 17, 2021)	criteria provided, single submitter
Select item 127572230.	NM_001077415.3(CRELD1):c.-19-86G>T GRCh37: Chr3:9976018 GRCh38: Chr3:9934334	CRELD1		not provided	Benign (Nov 12, 2018)	criteria provided, single submitter
Select item 70049031.	NM_001077415.3(CRELD1):c.33A>G (p.Pro11=) GRCh37: Chr3:9976155 GRCh38: Chr3:9934471	CRELD1		not provided	Likely benign (Dec 3, 2018)	criteria provided, single submitter
Select item 116410032.	NM_001077415.3(CRELD1):c.37A>G (p.Met13Val) GRCh37: Chr3:9976159 GRCh38: Chr3:9934475	CRELD1	M13V	Atrioventricular septal defect, susceptibility to, 2	Benign (Nov 4, 2022)	criteria provided, single submitter
Select item 13703333.	NM_001077415.3(CRELD1):c.37= (p.Met13=) GRCh37: Chr3:9976159 GRCh38: Chr3:9934475	CRELD1		not specified, Atrioventricular septal defect, susceptibility to, 2	Benign (Oct 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 226832034.	NM_001077415.3(CRELD1):c.47G>A (p.Gly16Asp) GRCh37: Chr3:9976169 GRCh38: Chr3:9934485	CRELD1	G16D	Inborn genetic diseases	Uncertain significance (Dec 20, 2021)	criteria provided, single submitter
Select item 160695035.	NM_001077415.3(CRELD1):c.66C>T (p.Asn22=) GRCh37: Chr3:9976188 GRCh38: Chr3:9934504	CRELD1		Atrioventricular septal defect, susceptibility to, 2	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 151852436.	NM_001077415.3(CRELD1):c.80T>G (p.Ile27Ser) GRCh37: Chr3:9976202 GRCh38: Chr3:9934518	CRELD1	I27S	Atrioventricular septal defect, susceptibility to, 2	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 161567537.	NM_001077415.3(CRELD1):c.93C>T (p.Pro31=) GRCh37: Chr3:9976215 GRCh38: Chr3:9934531	CRELD1		Atrioventricular septal defect, susceptibility to, 2	Benign (Sep 3, 2022)	criteria provided, single submitter
Select item 84974338.	NM_001077415.3(CRELD1):c.95C>T (p.Ser32Phe) GRCh37: Chr3:9976217 GRCh38: Chr3:9934533	CRELD1	S32F	Atrioventricular septal defect, susceptibility to, 2	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 240151039.	NM_001077415.3(CRELD1):c.119C>T (p.Pro40Leu) GRCh37: Chr3:9976241 GRCh38: Chr3:9934557	CRELD1	P40L	Inborn genetic diseases	Uncertain significance (Oct 29, 2021)	criteria provided, single submitter
Select item 221140740.	NM_001077415.3(CRELD1):c.119C>G (p.Pro40Arg) GRCh37: Chr3:9976241 GRCh38: Chr3:9934557	CRELD1	P40R	Inborn genetic diseases	Uncertain significance (Aug 26, 2022)	criteria provided, single submitter
Select item 131108641.	NM_001077415.3(CRELD1):c.136T>G (p.Cys46Gly) GRCh37: Chr3:9976258 GRCh38: Chr3:9934574	CRELD1	C46G	not provided	Uncertain significance (Dec 6, 2019)	criteria provided, single submitter
Select item 161571842.	NM_001077415.3(CRELD1):c.175-19A>G GRCh37: Chr3:9976500 GRCh38: Chr3:9934816	CRELD1		Atrioventricular septal defect, susceptibility to, 2	Likely benign (Apr 11, 2021)	criteria provided, single submitter
Select item 45140543.	NM_001077415.3(CRELD1):c.215A>G (p.Asn72Ser) GRCh37: Chr3:9976559 GRCh38: Chr3:9934875	CRELD1	N72S	not provided	Uncertain significance (May 18, 2018)	criteria provided, single submitter
Select item 169971344.	NM_001077415.3(CRELD1):c.232G>C (p.Glu78Gln) GRCh37: Chr3:9976576 GRCh38: Chr3:9934892	CRELD1	E78Q	not provided	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 81735545.	NM_001077415.3(CRELD1):c.254_257del (p.Asp85fs) GRCh37: Chr3:9976596-9976599 GRCh38: Chr3:9934912-9934915	CRELD1	D85fs	not provided	Likely pathogenic (Nov 30, 2018)	criteria provided, single submitter
Select item 70043246.	NM_001077415.3(CRELD1):c.257+10T>G GRCh37: Chr3:9976611 GRCh38: Chr3:9934927	CRELD1		Atrioventricular septal defect, susceptibility to, 2	Benign (Jan 11, 2022)	criteria provided, single submitter
Select item 122332647.	NM_001077415.3(CRELD1):c.257+263C>T GRCh37: Chr3:9976864 GRCh38: Chr3:9935180	CRELD1		not provided	Benign (Jun 19, 2021)	criteria provided, single submitter
Select item 160565248.	NM_001077415.3(CRELD1):c.258-13C>A GRCh37: Chr3:9979233 GRCh38: Chr3:9937549	CRELD1		Atrioventricular septal defect, susceptibility to, 2	Benign/Likely benign (Oct 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 204081749.	NM_001077415.3(CRELD1):c.258-7C>T GRCh37: Chr3:9979239 GRCh38: Chr3:9937555	CRELD1		Atrioventricular septal defect, susceptibility to, 2	Uncertain significance (Jul 2, 2022)	criteria provided, single submitter
Select item 62420550.	NM_001077415.3(CRELD1):c.264C>T (p.Thr88=) GRCh37: Chr3:9979252 GRCh38: Chr3:9937568	CRELD1		Atrioventricular septal defect, susceptibility to, 2, not provided	Likely benign (Feb 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 46583451.	NM_001077415.3(CRELD1):c.266G>A (p.Arg89His) GRCh37: Chr3:9979254 GRCh38: Chr3:9937570	CRELD1	R89H	Atrioventricular septal defect, susceptibility to, 2	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 108739752.	NM_001077415.3(CRELD1):c.288T>C (p.Gly96=) GRCh37: Chr3:9979276 GRCh38: Chr3:9937592	CRELD1		Atrioventricular septal defect, susceptibility to, 2	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 224756953.	NM_001077415.3(CRELD1):c.310G>A (p.Glu104Lys) GRCh37: Chr3:9979298 GRCh38: Chr3:9937614	CRELD1	E104K	Inborn genetic diseases	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 70156354.	NM_001077415.3(CRELD1):c.312G>A (p.Glu104=) GRCh37: Chr3:9979300 GRCh38: Chr3:9937616	CRELD1		not provided	Likely benign (Sep 10, 2018)	criteria provided, single submitter
Select item 342955.	NM_001077415.3(CRELD1):c.320G>A (p.Arg107His) GRCh37: Chr3:9979308 GRCh38: Chr3:9937624	CRELD1	R107H	not provided, Atrioventricular septal defect, susceptibility to, 2	Conflicting interpretations of pathogenicity (Aug 16, 2022)	criteria provided, conflicting interpretations
Select item 167773856.	NM_001077415.3(CRELD1):c.357G>A (p.Trp119Ter) GRCh37: Chr3:9979345 GRCh38: Chr3:9937661	CRELD1	W119*	not provided	Uncertain significance (Dec 27, 2021)	criteria provided, single submitter
Select item 157100757.	NM_001077415.3(CRELD1):c.368+7G>A GRCh37: Chr3:9979363 GRCh38: Chr3:9937679	CRELD1		Atrioventricular septal defect, susceptibility to, 2	Likely benign (Jul 14, 2021)	criteria provided, single submitter
Select item 125236958.	NM_001077415.3(CRELD1):c.369-39A>G GRCh37: Chr3:9979660 GRCh38: Chr3:9937976	CRELD1		not provided	Benign (Nov 10, 2018)	criteria provided, single submitter
Select item 41425359.	NM_001077415.3(CRELD1):c.369-3C>T GRCh37: Chr3:9979696 GRCh38: Chr3:9938012	CRELD1		Atrioventricular septal defect, susceptibility to, 2	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 23821760.	NM_001077415.3(CRELD1):c.383C>G (p.Pro128Arg) GRCh37: Chr3:9979713 GRCh38: Chr3:9938029	CRELD1	P128R	Atrioventricular septal defect, susceptibility to, 2	Benign (Aug 23, 2022)	criteria provided, single submitter
Select item 157597461.	NM_001077415.3(CRELD1):c.390C>G (p.Leu130=) GRCh37: Chr3:9979720 GRCh38: Chr3:9938036	CRELD1		Atrioventricular septal defect, susceptibility to, 2	Likely benign (Nov 30, 2021)	criteria provided, single submitter
Select item 244056062.	NM_001077415.3(CRELD1):c.430C>G (p.Pro144Ala) GRCh37: Chr3:9979760 GRCh38: Chr3:9938076	CRELD1	P144A	Atrioventricular septal defect, susceptibility to, 2	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 218778063.	NM_001077415.3(CRELD1):c.432C>T (p.Pro144_Ala145=) GRCh37: Chr3:9979762 GRCh38: Chr3:9938078	CRELD1		Atrioventricular septal defect, susceptibility to, 2	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 112683664.	NM_001077415.3(CRELD1):c.441C>T (p.Thr147=) GRCh37: Chr3:9979771 GRCh38: Chr3:9938087	CRELD1		Atrioventricular septal defect, susceptibility to, 2	Likely benign (Aug 19, 2020)	criteria provided, single submitter
Select item 233224565.	NM_001077415.3(CRELD1):c.445G>A (p.Gly149Arg) GRCh37: Chr3:9979775 GRCh38: Chr3:9938091	CRELD1	G149R	Inborn genetic diseases	Uncertain significance (Dec 2, 2022)	criteria provided, single submitter
Select item 108179966.	NM_001077415.3(CRELD1):c.456C>T (p.Cys152=) GRCh37: Chr3:9979786 GRCh38: Chr3:9938102	CRELD1		Atrioventricular septal defect, susceptibility to, 2	Likely benign (Jul 6, 2019)	criteria provided, single submitter
Select item 95632067.	NM_001077415.3(CRELD1):c.460C>T (p.Pro154Ser) GRCh37: Chr3:9979790 GRCh38: Chr3:9938106	CRELD1	P154S	Atrioventricular septal defect, susceptibility to, 2	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 128212768.	NM_001077415.3(CRELD1):c.461-217A>G GRCh37: Chr3:9982317 GRCh38: Chr3:9940633	CRELD1		not provided	Benign (Nov 12, 2018)	criteria provided, single submitter
Select item 126316269.	NM_001077415.3(CRELD1):c.461-89A>G GRCh37: Chr3:9982445 GRCh38: Chr3:9940761	CRELD1		not provided	Benign (May 11, 2021)	criteria provided, single submitter
Select item 122949370.	NM_001077415.3(CRELD1):c.461-88AGGGAG[6] GRCh37: Chr3:9982445-9982446 GRCh38: Chr3:9940761-9940762	CRELD1		not provided	Benign (May 11, 2021)	criteria provided, single submitter
Select item 343071.	NM_001077415.3(CRELD1):c.484C>G (p.Pro162Ala) GRCh37: Chr3:9982557 GRCh38: Chr3:9940873	CRELD1	P162A	Atrioventricular septal defect, susceptibility to, 2	risk factor (Jun 1, 2005)	no assertion criteria provided
Select item 230698872.	NM_001077415.3(CRELD1):c.490G>A (p.Gly164Ser) GRCh37: Chr3:9982563 GRCh38: Chr3:9940879	CRELD1	G164S	Inborn genetic diseases	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 19782773.	NM_001077415.3(CRELD1):c.498C>T (p.Tyr166=) GRCh37: Chr3:9982571 GRCh38: Chr3:9940887	CRELD1		not provided, not specified, Atrioventricular septal defect, susceptibility to, 2	Benign/Likely benign (Apr 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 46583574.	NM_001077415.3(CRELD1):c.523C>T (p.Arg175Ter) GRCh37: Chr3:9982596 GRCh38: Chr3:9940912	CRELD1	R175*	Atrioventricular septal defect, susceptibility to, 2	Uncertain significance (Jul 22, 2017)	criteria provided, single submitter
Select item 53423175.	NM_001077415.3(CRELD1):c.524G>A (p.Arg175Gln) GRCh37: Chr3:9982597 GRCh38: Chr3:9940913	CRELD1	R175Q	Atrioventricular septal defect, susceptibility to, 2	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 152215176.	NM_001077415.3(CRELD1):c.566del (p.Gly189fs) GRCh37: Chr3:9982635 GRCh38: Chr3:9940951	CRELD1	G189fs	Atrioventricular septal defect, susceptibility to, 2	Uncertain significance (Nov 6, 2021)	criteria provided, multiple submitters, no conflicts
Select item 148045477.	NM_001077415.3(CRELD1):c.562G>A (p.Gly188Arg) GRCh37: Chr3:9982635 GRCh38: Chr3:9940951	CRELD1	G188R	Atrioventricular septal defect, susceptibility to, 2	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 169894178.	NM_001077415.3(CRELD1):c.565G>A (p.Gly189Ser) GRCh37: Chr3:9982638 GRCh38: Chr3:9940954	CRELD1	G189S	Atrioventricular septal defect, susceptibility to, 2	Uncertain significance (Jan 14, 2022)	criteria provided, single submitter
Select item 23821879.	NM_001077415.3(CRELD1):c.575G>A (p.Cys192Tyr) GRCh37: Chr3:9982648 GRCh38: Chr3:9940964	CRELD1	C192Y	not provided, Atrioventricular septal defect, susceptibility to, 2, CRELD1-related condition	Uncertain significance (Feb 10, 2023)	criteria provided, multiple submitters, no conflicts
Select item 166201280.	NM_001077415.3(CRELD1):c.600T>C (p.Phe200=) GRCh37: Chr3:9982673 GRCh38: Chr3:9940989	CRELD1		Atrioventricular septal defect, susceptibility to, 2	Likely benign (Jun 25, 2021)	criteria provided, single submitter
Select item 219415581.	NM_001077415.3(CRELD1):c.611G>A (p.Arg204His) GRCh37: Chr3:9982684 GRCh38: Chr3:9941000	CRELD1	R204H	Atrioventricular septal defect, susceptibility to, 2	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 149999282.	NM_001077415.3(CRELD1):c.613A>G (p.Asn205Asp) GRCh37: Chr3:9982686 GRCh38: Chr3:9941002	CRELD1	N205D	Atrioventricular septal defect, susceptibility to, 2	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 41425483.	NM_001077415.3(CRELD1):c.616G>A (p.Ala206Thr) GRCh37: Chr3:9982689 GRCh38: Chr3:9941005	CRELD1	A206T	Atrioventricular septal defect, susceptibility to, 2	Benign (Oct 21, 2022)	criteria provided, single submitter
Select item 64790384.	NM_001077415.3(CRELD1):c.635C>T (p.Ser212Leu) GRCh37: Chr3:9982708 GRCh38: Chr3:9941024	CRELD1	S212L	Atrioventricular septal defect, susceptibility to, 2	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 69737785.	NM_001077415.3(CRELD1):c.636G>A (p.Ser212=) GRCh37: Chr3:9982709 GRCh38: Chr3:9941025	CRELD1		not provided	Likely benign (Jun 26, 2018)	criteria provided, single submitter
Select item 167449686.	NM_001077415.3(CRELD1):c.637+20G>A GRCh37: Chr3:9982730 GRCh38: Chr3:9941046	CRELD1		Atrioventricular septal defect, susceptibility to, 2	Benign (Jul 5, 2022)	criteria provided, single submitter
Select item 93082287.	NM_001077415.3(CRELD1):c.658C>T (p.Arg220Ter) GRCh37: Chr3:9982815 GRCh38: Chr3:9941131	CRELD1	R220*	Atrioventricular septal defect, susceptibility to, 2	Uncertain significance (Dec 28, 2020)	criteria provided, multiple submitters, no conflicts
Select item 116598588.	NM_001077415.3(CRELD1):c.659G>A (p.Arg220Gln) GRCh37: Chr3:9982816 GRCh38: Chr3:9941132	CRELD1	R220Q	Inborn genetic diseases, not provided, Atrioventricular septal defect, susceptibility to, 2	Conflicting interpretations of pathogenicity (Sep 27, 2022)	criteria provided, conflicting interpretations
Select item 73077689.	NM_001077415.3(CRELD1):c.666A>G (p.Ser222=) GRCh37: Chr3:9982823 GRCh38: Chr3:9941139	CRELD1		Atrioventricular septal defect, susceptibility to, 2	Likely benign (Dec 31, 2019)	criteria provided, single submitter
Select item 130555590.	NM_001077415.3(CRELD1):c.699G>C (p.Lys233Asn) GRCh37: Chr3:9982856 GRCh38: Chr3:9941172	CRELD1	K233N	Atrioventricular septal defect, susceptibility to, 2, not provided	Conflicting interpretations of pathogenicity (Jan 21, 2021)	criteria provided, conflicting interpretations
Select item 155979991.	NM_001077415.3(CRELD1):c.712C>T (p.Leu238=) GRCh37: Chr3:9982869 GRCh38: Chr3:9941185	CRELD1		Atrioventricular septal defect, susceptibility to, 2	Likely benign (Feb 3, 2021)	criteria provided, single submitter
Select item 98443192.	NM_001077415.3(CRELD1):c.726G>T (p.Lys242Asn) GRCh37: Chr3:9982883 GRCh38: Chr3:9941199	CRELD1	K242N	Atrioventricular septal defect, susceptibility to, 2	Uncertain significance (Oct 14, 2020)	criteria provided, single submitter
Select item 191318493.	NM_001077415.3(CRELD1):c.733+9G>A GRCh37: Chr3:9982899 GRCh38: Chr3:9941215	CRELD1		Atrioventricular septal defect, susceptibility to, 2	Likely benign (Feb 23, 2022)	criteria provided, single submitter
Select item 130817694.	NM_001077415.3(CRELD1):c.784T>C (p.Cys262Arg) GRCh37: Chr3:9984547 GRCh38: Chr3:9942863	CRELD1	C262R	not provided	Uncertain significance (Aug 27, 2019)	criteria provided, single submitter
Select item 84160695.	NM_001077415.3(CRELD1):c.796dup (p.Glu266fs) GRCh37: Chr3:9984558-9984559 GRCh38: Chr3:9942874-9942875	CRELD1	E266fs	Atrioventricular septal defect, susceptibility to, 2	Uncertain significance (Oct 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 95179796.	NM_001077415.3(CRELD1):c.806A>G (p.Tyr269Cys) GRCh37: Chr3:9984569 GRCh38: Chr3:9942885	CRELD1	Y269C	Atrioventricular septal defect, susceptibility to, 2	Uncertain significance (Jun 3, 2019)	criteria provided, single submitter
Select item 63346397.	NM_001077415.3(CRELD1):c.822_823del (p.Ala275fs) GRCh37: Chr3:9984763-9984764 GRCh38: Chr3:9943079-9943080	CRELD1	A275fs, A247fs	Atrioventricular septal defect, susceptibility to, 2	Likely pathogenic (Jan 1, 2019)	criteria provided, single submitter
Select item 64342898.	NM_001077415.3(CRELD1):c.846G>T (p.Met282Ile) GRCh37: Chr3:9984789 GRCh38: Chr3:9943105	CRELD1	M282I, M254I	Atrioventricular septal defect, susceptibility to, 2	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 168660199.	NM_001077415.3(CRELD1):c.857C>G (p.Pro286Arg) GRCh37: Chr3:9984800 GRCh38: Chr3:9943116	CRELD1	P258R, P286R	Atrioventricular septal defect, susceptibility to, 2, not specified	Uncertain significance (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 2440559100.	NM_001077415.3(CRELD1):c.874T>C (p.Cys292Arg) GRCh37: Chr3:9984817 GRCh38: Chr3:9943133	CRELD1	C264R, C292R	Atrioventricular septal defect, susceptibility to, 2	Uncertain significance (Jan 19, 2022)	criteria provided, single submitter

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