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Items: 1 to 100 of 957

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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 casesPathogenic
(Aug 2, 2012)
no assertion criteria provided
2.
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 casesPathogenic
(Feb 10, 2012)
no assertion criteria provided
3.
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 casesPathogenic
(Dec 16, 2011)
no assertion criteria provided
4.
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 casesPathogenic
(Nov 11, 2011)
no assertion criteria provided
5.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
6.
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 casesPathogenic
(Jun 4, 2013)
no assertion criteria provided
7.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
8.
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 casesPathogenic
(Jul 18, 2014)
no assertion criteria provided
9.
GRCh37:
Chr3:8017421-12678416
GRCh38:
Chr3:7975734-12636917
See casesLikely pathogenic
(Aug 5, 2011)
no assertion criteria provided
10.
GRCh37:
Chr3:11504802-38961034
GRCh38:
Chr3:11463328-38919543
ACAA1, ACVR2B, ACVR2B-AS1, ANKRD28, APRG1, ARPP21, ATG7, AZI2, BALR6, BTD, C3orf20, CAND2, CAPN7, CCDC174, CCR4, CHCHD4, CLASP2, CMC1, CMTM6, CMTM7, CMTM8, CNOT10, COLQ, CRTAP, CTDSPL, DAZL, DCLK3, DLEC1, DPH3, DYNC1LI1, EAF1, EFHB, EOMES, EPM2AIP1, EXOG, FBLN2, FBXL2, FGD5, FGD5-AS1, GADL1, GALNT15, GLB1, GOLGA4, GOLGA4-AS1, GPD1L, GRIP2, HACL1, HDAC11, HDAC11-AS1, IQSEC1, ITGA9, ITGA9-AS1, KAT2B, KCNH8, LINC00620, LINC00690, LINC00691, LINC00692, LINC00693, LINC01267, LINC01811, LINC01980, LINC01981, LINC01985, LINC02011, LINC02022, LINC02033, LINC02084, LOC101927829, LOC101928135, LOC105376975, LOC107133518, LOC107457584, LOC108254666, LOC110120630, LOC110121143, LOC110121232, LOC110121269, LOC110121286, LOC110121287, LOC110121288, LOC111365150, LOC111365223, LOC111465007, LOC111465009, LOC111501778, LOC112268445, LOC112903834, LOC112903841, LOC112935902, LOC112935927, LOC112935928, LOC112935929, LOC112935930, LOC114803475, LOC115995505, LOC115995506, LOC115995507, LOC115995508, LOC115995509, LOC120285841, LOC121009640, LOC121009641, LOC121009642, LOC121009643, LOC121009644, LOC121009651, LOC121009652, LOC121009653, LOC121009654, LOC121009655, LOC121009656, LOC121009657, LOC121725130, LOC121725131, LOC121725132, LOC121725133, LOC121725134, LOC121725135, LOC121725136, LOC121725137, LOC121725138, LOC121725139, 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, 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, LRRC3B, LRRC3B-AS1, LRRFIP2, LSM3, METTL6, MIR128-2, MIR26A1, MIR3134, MIR3135A, MIR3714, MIR4270, MIR4442, MIR466, MIR4791, MIR4792, MIR548AY, MIR563, MKRN2, MKRN2OS, MLH1, MRPS25, MYD88, NEK10, NGLY1, NKIRAS1, NR1D2, NR2C2, NUP210, OSBPL10, OSBPL10-AS1, OXNAD1, OXSM, OXSR1, PDCD6IP, PDCD6IP-DT, PLCD1, PLCL2, PLCL2-AS1, PP2D1, PPARG, RAB5A, RAF1, RARB, RARB-AS1, RBMS3, RBMS3-AS1, RBMS3-AS2, RBMS3-AS3, RBSN, RFTN1, RPL15, RPL32, SATB1, SATB1-AS1, SCN10A, SCN11A, SCN5A, SGO1, SGO1-AS1, SH3BP5, SH3BP5-AS1, SLC22A13, SLC22A14, SLC4A7, SLC6A6, SNORA7A, SNORA93, STAC, STT3B, SUSD5, SYN2, TAMM41, TBC1D5, TGFBR2, THRB, THRB-AS1, THRB-AS2, TIMP4, TMEM40, TMEM43, TMPPE, TOP2B, TRANK1, TRIM71, TSEN2, UBE2E1, UBE2E1-AS1, UBE2E2, UBE2E2-DT, UBP1, VGLL4, VILL, WNT7A, XPC, XYLB, ZCWPW2, ZNF385D, ZNF385D-AS1, ZNF385D-AS2, ZNF860
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
11.
GRCh37:
Chr3:12529064-13038825
GRCh38:
Chr3:12487565-12997325
See casesUncertain significance
(Dec 16, 2011)
no assertion criteria provided
12.
GRCh37:
Chr3:12625172
GRCh38:
Chr3:12583673
MKRN2, RAF1LEOPARD syndrome 2, Noonan syndrome 5Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
13.
GRCh37:
Chr3:12625173
GRCh38:
Chr3:12583674
RAF1, MKRN2LEOPARD syndrome 2, Noonan syndrome 5Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr3:12625264-12625265
GRCh38:
Chr3:12583765-12583766
RAF1Noonan syndrome, Noonan syndrome with multiple lentiginesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr3:12625265-12625268
GRCh38:
Chr3:12583766-12583769
RAF1Noonan syndrome, Noonan syndrome with multiple lentiginesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr3:12625307
GRCh38:
Chr3:12583808
RAF1LEOPARD syndrome 2, Noonan syndrome 5Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr3:12625366
GRCh38:
Chr3:12583867
RAF1LEOPARD syndrome 2, Noonan syndrome 5Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr3:12625370
GRCh38:
Chr3:12583871
RAF1Dilated cardiomyopathy 1NN, LEOPARD syndrome 2, Noonan syndrome 5,
LEOPARD syndrome 2, Noonan syndrome 5
Uncertain significance
(Jul 6, 2021)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr3:12625373
GRCh38:
Chr3:12583874
RAF1LEOPARD syndrome 2, Noonan syndrome 5Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr3:12625383
GRCh38:
Chr3:12583884
RAF1LEOPARD syndrome 2, Noonan syndrome 5Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr3:12625385
GRCh38:
Chr3:12583886
RAF1LEOPARD syndrome 2, Noonan syndrome 5Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr3:12625386
GRCh38:
Chr3:12583887
RAF1LEOPARD syndrome 2, Noonan syndrome 5Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr3:12625407
GRCh38:
Chr3:12583908
RAF1LEOPARD syndrome 2, Noonan syndrome 5Benign/Likely benign
(Jan 12, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr3:12625457
GRCh38:
Chr3:12583958
RAF1LEOPARD syndrome 2, Noonan syndrome 5Benign/Likely benign
(Jan 13, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr3:12625518
GRCh38:
Chr3:12584019
RAF1LEOPARD syndrome 2, Noonan syndrome 5Benign/Likely benign
(Jan 13, 2018)
criteria provided, single submitter
26.
GRCh37:
Chr3:12625603
GRCh38:
Chr3:12584104
RAF1LEOPARD syndrome 2, Noonan syndrome 5Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr3:12625609
GRCh38:
Chr3:12584110
RAF1LEOPARD syndrome 2, Noonan syndrome 5Benign/Likely benign
(Jan 13, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr3:12625665
GRCh38:
Chr3:12584166
RAF1not provided, Noonan syndrome 5, LEOPARD syndrome 2
Benign/Likely benign
(May 22, 2021)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr3:12625747
GRCh38:
Chr3:12584248
RAF1not provided, Noonan syndrome 5, LEOPARD syndrome 2
Benign
(Jan 13, 2018)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr3:12625823
GRCh38:
Chr3:12584324
RAF1LEOPARD syndrome 2, Noonan syndrome 5Conflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretations
31.
GRCh37:
Chr3:12625851
GRCh38:
Chr3:12584352
RAF1LEOPARD syndrome 2, Noonan syndrome 5Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr3:12625853
GRCh38:
Chr3:12584354
RAF1LEOPARD syndrome 2, Noonan syndrome 5Benign/Likely benign
(Jan 13, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr3:12625893
GRCh38:
Chr3:12584394
RAF1LEOPARD syndrome 2, Noonan syndrome 5Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr3:12625900
GRCh38:
Chr3:12584401
RAF1LEOPARD syndrome 2, Noonan syndrome 5Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
35.
GRCh37:
Chr3:12625903
GRCh38:
Chr3:12584404
RAF1Noonan syndrome 5, LEOPARD syndrome 2Benign/Likely benign
(Jan 12, 2018)
criteria provided, single submitter
36.
GRCh37:
Chr3:12625930
GRCh38:
Chr3:12584431
RAF1not provided, Noonan syndrome 5, LEOPARD syndrome 2
Benign
(Jan 12, 2018)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr3:12625940
GRCh38:
Chr3:12584441
RAF1LEOPARD syndrome 2, Noonan syndrome 5Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
38.
GRCh37:
Chr3:12626003-12660230
GRCh38:
Chr3:12584504-12618731
RAF1RASopathyUncertain significance
(Nov 15, 2019)
criteria provided, single submitter
39.
GRCh37:
Chr3:12626011
GRCh38:
Chr3:12584512
RAF1not specifiedLikely benign
(May 14, 2012)
criteria provided, single submitter
40.
GRCh37:
Chr3:12626013
GRCh38:
Chr3:12584514
RAF1not providedUncertain significance
(Sep 25, 2019)
criteria provided, single submitter
41.
GRCh37:
Chr3:12626013
GRCh38:
Chr3:12584514
RAF1Noonan syndrome and Noonan-related syndrome, RASopathyConflicting interpretations of pathogenicity
(Oct 13, 2022)
criteria provided, conflicting interpretations
42.
GRCh37:
Chr3:12626017
GRCh38:
Chr3:12584518
RAF1F567S, F587S, F648S, F668S, F534S, F615SRASopathyUncertain significance
(Sep 2, 2021)
criteria provided, single submitter
43.
GRCh37:
Chr3:12626019
GRCh38:
Chr3:12584520
RAF1RASopathyBenign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
44.
GRCh37:
Chr3:12626021
GRCh38:
Chr3:12584522
RAF1V647I, V566I, V586I, V533I, V614I, V667Inot providedUncertain significance
(Aug 2, 2013)
criteria provided, single submitter
45.
GRCh37:
Chr3:12626022
GRCh38:
Chr3:12584523
RAF1RASopathyLikely benign
(Sep 24, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr3:12626024
GRCh38:
Chr3:12584525
RAF1P646S, P585S, P613S, P666S, P532S, P565SRASopathy, not providedUncertain significance
(Aug 24, 2021)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr3:12626028
GRCh38:
Chr3:12584529
RAF1Cardiovascular phenotypeLikely benign
(May 27, 2021)
criteria provided, single submitter
48.
GRCh37:
Chr3:12626031
GRCh38:
Chr3:12584532
RAF1not provided, RASopathyLikely benign
(Aug 21, 2021)
criteria provided, single submitter
49.
GRCh37:
Chr3:12626032
GRCh38:
Chr3:12584533
RAF1P582L, P529L, P562L, P643L, P610L, P663LRASopathy, not specifiedUncertain significance
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr3:12626033
GRCh38:
Chr3:12584534
RAF1P643S, P562S, P610S, P529S, P582S, P663Snot specifiedUncertain significance
(Jun 16, 2022)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr3:12626034
GRCh38:
Chr3:12584535
RAF1RASopathyLikely benign
(Jan 16, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr3:12626037
GRCh38:
Chr3:12584538
RAF1RASopathy, Cardiovascular phenotypeLikely benign
(Aug 15, 2022)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr3:12626038
GRCh38:
Chr3:12584539
RAF1T527R, T560R, T580R, T608R, T641R, T661RLEOPARD syndrome 2, Noonan syndrome 5Uncertain significance
(Jul 30, 2021)
criteria provided, single submitter
54.
GRCh37:
Chr3:12626038
GRCh38:
Chr3:12584539
RAF1T641M, T580M, T608M, T560M, T661M, T527MDilated cardiomyopathy 1NN, not provided, RASopathy,
Primary dilated cardiomyopathy
Conflicting interpretations of pathogenicity
(Oct 7, 2022)
criteria provided, conflicting interpretations
55.
GRCh37:
Chr3:12626039
GRCh38:
Chr3:12584540
RAF1T527A, T560A, T580A, T608A, T641A, T661Anot provided, not specified, RASopathy
Uncertain significance
(Sep 1, 2021)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr3:12626042-12626065
GRCh38:
Chr3:12584543-12584566
RAF1not specifiedUncertain significance
(Oct 22, 2019)
criteria provided, single submitter
57.
GRCh37:
Chr3:12626043
GRCh38:
Chr3:12584544
RAF1Cardiovascular phenotype, RASopathyLikely benign
(Mar 14, 2022)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr3:12626046
GRCh38:
Chr3:12584547
RAF1RASopathyBenign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
59.
GRCh37:
Chr3:12626047
GRCh38:
Chr3:12584548
RAF1T638M, T524M, T557M, T577M, T658M, T605Mnot specified, not provided, RASopathy,
Cardiovascular phenotype
Conflicting interpretations of pathogenicity
(Oct 14, 2022)
criteria provided, conflicting interpretations
60.
GRCh37:
Chr3:12626048
GRCh38:
Chr3:12584549
RAF1T658S, T577S, T605S, T638S, T524S, T557SCardiovascular phenotypeUncertain significance
(Jan 28, 2021)
criteria provided, single submitter
61.
GRCh37:
Chr3:12626050
GRCh38:
Chr3:12584551
RAF1C523Y, C556Y, C576Y, C604Y, C637Y, C657YCardiovascular phenotype, RASopathy, not specified
Uncertain significance
(Aug 16, 2022)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr3:12626053
GRCh38:
Chr3:12584554
RAF1A522V, A603V, A636V, A656V, A575V, A555VCardiovascular phenotypeUncertain significance
(Mar 20, 2020)
criteria provided, single submitter
63.
GRCh37:
Chr3:12626055
GRCh38:
Chr3:12584556
RAF1RASopathyLikely benign
(Nov 24, 2020)
criteria provided, single submitter
64.
GRCh37:
Chr3:12626056
GRCh38:
Chr3:12584557
RAF1N635S, N655S, N554S, N521S, N574S, N602Snot provided, RASopathyUncertain significance
(Aug 30, 2021)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr3:12626059
GRCh38:
Chr3:12584560
RAF1I601T, I634T, I520T, I553T, I573T, I654TNoonan syndrome 5, Cardiovascular phenotype, RASopathy
Uncertain significance
(Jan 9, 2023)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr3:12626061
GRCh38:
Chr3:12584562
RAF1RASopathyLikely benign
(Mar 19, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr3:12626062
GRCh38:
Chr3:12584563
RAF1D519G, D600G, D572G, D633G, D552G, D653GRASopathyUncertain significance
(Sep 23, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr3:12626063
GRCh38:
Chr3:12584564
RAF1D519N, D552N, D572N, D600N, D633N, D653Nnot providedUncertain significance
(Aug 27, 2020)
criteria provided, single submitter
69.
GRCh37:
Chr3:12626064
GRCh38:
Chr3:12584565
RAF1RASopathyLikely benign
(May 27, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr3:12626066
GRCh38:
Chr3:12584567
RAF1E599K, E518K, E551K, E632K, E652K, E571KRASopathyUncertain significance
(Oct 3, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr3:12626071
GRCh38:
Chr3:12584572
RAF1H569R, H516R, H549R, H630R, H650R, H597RInborn genetic diseasesUncertain significance
(Jul 19, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr3:12626074
GRCh38:
Chr3:12584575
RAF1A515G, A629G, A568G, A596G, A649G, A548GRASopathyUncertain significance
(Sep 24, 2021)
criteria provided, single submitter
73.
GRCh37:
Chr3:12626075
GRCh38:
Chr3:12584576
RAF1A515S, A596S, A629S, A649S, A548S, A568SCardiovascular phenotype, RASopathyConflicting interpretations of pathogenicity
(Sep 7, 2022)
criteria provided, conflicting interpretations
74.
GRCh37:
Chr3:12626080
GRCh38:
Chr3:12584581
RAF1R513P, R546P, R566P, R594P, R627P, R647Pnot providedLikely pathogenic
(Jul 15, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr3:12626080
GRCh38:
Chr3:12584581
RAF1R627Q, R594Q, R513Q, R546Q, R566Q, R647Qnot provided, Dilated cardiomyopathy 1NN, RASopathy
Uncertain significance
(Aug 11, 2021)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr3:12626081
GRCh38:
Chr3:12584582
RAF1R627W, R513W, R546W, R594W, R566W, R647WCardiovascular phenotype, Noonan syndrome and Noonan-related syndrome, not provided,
RASopathy
Uncertain significance
(Aug 9, 2022)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr3:12626083
GRCh38:
Chr3:12584584
RAF1H626R, H646R, H512R, H545R, H565R, H593RInborn genetic diseases, not provided, RASopathy
Conflicting interpretations of pathogenicity
(Jul 13, 2022)
criteria provided, conflicting interpretations
78.
GRCh37:
Chr3:12626085
GRCh38:
Chr3:12584586
RAF1RASopathyLikely benign
(Mar 26, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr3:12626089
GRCh38:
Chr3:12584590
RAF1S624C, S563C, S644C, S510C, S543C, S591Cnot provided, RASopathyConflicting interpretations of pathogenicity
(Aug 23, 2022)
criteria provided, conflicting interpretations
80.
GRCh37:
Chr3:12626093
GRCh38:
Chr3:12584594
RAF1P623S, P562S, P590S, P509S, P542S, P643SLEOPARD syndrome 2, Noonan syndrome 5, Dilated cardiomyopathy 1NN,
not provided
Uncertain significance
(Sep 20, 2021)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr3:12626096
GRCh38:
Chr3:12584597
RAF1E642K, E561K, E622K, E508K, E541K, E589KCardiovascular phenotypeUncertain significance
(Aug 8, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr3:12626097
GRCh38:
Chr3:12584598
RAF1Cardiovascular phenotypeLikely benign
(May 30, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr3:12626097
GRCh38:
Chr3:12584598
RAF1Cardiovascular phenotype, RASopathyLikely benign
(Aug 9, 2022)
criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr3:12626102
GRCh38:
Chr3:12584603
RAF1A587T, A620T, A506T, A640T, A539T, A559TRASopathyUncertain significance
(Aug 26, 2021)
criteria provided, single submitter
85.
GRCh37:
Chr3:12626103
GRCh38:
Chr3:12584604
RAF1RASopathy, Cardiovascular phenotype, not provided
Likely benign
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr3:12626106
GRCh38:
Chr3:12584607
RAF1RASopathyLikely benign
(May 1, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr3:12626107
GRCh38:
Chr3:12584608
RAF1R557Q, R585Q, R618Q, R537Q, R504Q, R638QCardiovascular phenotypeUncertain significance
(Sep 9, 2021)
criteria provided, single submitter
88.
GRCh37:
Chr3:12626108
GRCh38:
Chr3:12584609
RAF1Cardiovascular phenotypeLikely benign
(May 14, 2018)
criteria provided, single submitter
89.
GRCh37:
Chr3:12626108
GRCh38:
Chr3:12584609
RAF1R537W, R618W, R504W, R557W, R585W, R638WRASopathyUncertain significance
(May 14, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr3:12626110
GRCh38:
Chr3:12584611
RAF1N536I, N556I, N637I, N503I, N617I, N584Inot provided, Cardiovascular phenotypeConflicting interpretations of pathogenicity
(Jun 27, 2022)
criteria provided, conflicting interpretations
91.
GRCh37:
Chr3:12626110
GRCh38:
Chr3:12584611
RAF1N503S, N536S, N556S, N584S, N617S, N637Snot provided, RASopathyUncertain significance
(Sep 1, 2021)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr3:12626118
GRCh38:
Chr3:12584619
RAF1Cardiovascular phenotype, RASopathy, not specified
Conflicting interpretations of pathogenicity
(Jul 13, 2022)
criteria provided, conflicting interpretations
93.
GRCh37:
Chr3:12626118
GRCh38:
Chr3:12584619
RAF1not providedLikely benign
(Mar 14, 2018)
criteria provided, single submitter
94.
GRCh37:
Chr3:12626122-12626123
GRCh38:
Chr3:12584623-12584624
RAF1L532fs, L580fs, L552fs, L499fs, L613fs, L633fsRASopathyUncertain significance
(Aug 13, 2021)
criteria provided, single submitter
95.
GRCh37:
Chr3:12626123
GRCh38:
Chr3:12584624
RAF1L613I, L633I, L532I, L552I, L580I, L499IInborn genetic diseasesLikely pathogenic
(May 31, 2017)
criteria provided, single submitter
96.
GRCh37:
Chr3:12626123
GRCh38:
Chr3:12584624
RAF1L613V, L633V, L499V, L580V, L552V, L532VNoonan syndromePathogenic
(Apr 3, 2017)
reviewed by expert panel
FDA Recognized Database
97.
GRCh37:
Chr3:12626124
GRCh38:
Chr3:12584625
RAF1Cardiovascular phenotypeLikely benign
(Feb 27, 2021)
criteria provided, single submitter
98.
GRCh37:
Chr3:12626125
GRCh38:
Chr3:12584626
RAF1S551C, S579C, S531C, S612C, S632C, S498CRASopathyUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
99.
GRCh37:
Chr3:12626128
GRCh38:
Chr3:12584629
RAF1H497P, H530P, H611P, H550P, H578P, H631PRASopathyUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
100.
GRCh37:
Chr3:12626130
GRCh38:
Chr3:12584631
RAF1RASopathyBenign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
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