spred1[gene] OR shoc2[gene] OR raf1[gene] OR ptpn11[gene] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1500311.	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, LOC101927467, 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 1490852.	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, LOC101927467, 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 1489423.	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, LOC101927467, 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, 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, UBE2E1-AS1, TMEM43, TOP2B, TRNT1, TSEN2, TTLL3, UBE2E1, 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 1488764.	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3 GRCh37: Chr3:73914-20375879 GRCh38: Chr3:32241-20334387	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, 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, LOC101927467, 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		See cases	Pathogenic (Nov 11, 2011)	no assertion criteria provided
Select item 573975.	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3 GRCh37: Chr3:93949-37189567 GRCh38: Chr3:52266-37148076	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, 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, LOC101927467, 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, MIR548AY, MIR563, MIR885, MKRN2, MKRN2OS, MLH1, MRPS25, MTMR14, NEK10		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1534156.	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, LOC101927467, 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, 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, RPL15, RPL32, RPSA, RPUSD3, SATB1, SATB1-AS1, SCN10A, 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 579777.	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, LOC101927467, 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 1556998.	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, LOC101927467, 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 1482349.	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, LOC101927467, 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 5797810.	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3 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 cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 14896611.	GRCh38/hg38 3p25.2(chr3:12487565-12997325)x3 GRCh37: Chr3:12529064-13038825 GRCh38: Chr3:12487565-12997325	CAND2, IQSEC1, LINC02022, LOC121009641, LOC126806607, MKRN2, MKRN2OS, RAF1, RPL32, SNORA7A, TMEM40, TSEN2		See cases	Uncertain significance (Dec 16, 2011)	no assertion criteria provided
Select item 90211612.	NM_014160.5(MKRN2):c.*1420G>A GRCh37: Chr3:12625172 GRCh38: Chr3:12583673	MKRN2, RAF1		LEOPARD syndrome 2, Noonan syndrome 5	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 90300313.	NM_014160.5(MKRN2):c.*1421T>A GRCh37: Chr3:12625173 GRCh38: Chr3:12583674	MKRN2, RAF1		LEOPARD syndrome 2, Noonan syndrome 5	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34309114.	NM_002880.4(RAF1):c.*729AACA[6] GRCh37: Chr3:12625264-12625265 GRCh38: Chr3:12583765-12583766	RAF1		Noonan syndrome, Noonan syndrome with multiple lentigines	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 34309215.	NM_002880.4(RAF1):c.*729AACA[4] GRCh37: Chr3:12625265-12625268 GRCh38: Chr3:12583766-12583769	RAF1		Noonan syndrome, Noonan syndrome with multiple lentigines	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 90300416.	NM_002880.4(RAF1):c.*706C>T GRCh37: Chr3:12625307 GRCh38: Chr3:12583808	RAF1		Noonan syndrome 5, LEOPARD syndrome 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90300517.	NM_002880.4(RAF1):c.*647G>T GRCh37: Chr3:12625366 GRCh38: Chr3:12583867	RAF1		Noonan syndrome 5, LEOPARD syndrome 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89938518.	NM_002880.4(RAF1):c.*643C>G GRCh37: Chr3:12625370 GRCh38: Chr3:12583871	RAF1		Dilated 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
Select item 34309319.	NM_002880.4(RAF1):c.*640T>C GRCh37: Chr3:12625373 GRCh38: Chr3:12583874	RAF1		LEOPARD syndrome 2, Noonan syndrome 5	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89938620.	NM_002880.4(RAF1):c.*630A>G GRCh37: Chr3:12625383 GRCh38: Chr3:12583884	RAF1		LEOPARD syndrome 2, Noonan syndrome 5	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89938721.	NM_002880.4(RAF1):c.*628G>T GRCh37: Chr3:12625385 GRCh38: Chr3:12583886	RAF1		LEOPARD syndrome 2, Noonan syndrome 5	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34309422.	NM_002880.4(RAF1):c.*627C>T GRCh37: Chr3:12625386 GRCh38: Chr3:12583887	RAF1		LEOPARD syndrome 2, Noonan syndrome 5	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34309523.	NM_002880.4(RAF1):c.*606A>G GRCh37: Chr3:12625407 GRCh38: Chr3:12583908	RAF1		LEOPARD syndrome 2, Noonan syndrome 5	Benign/Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 34309624.	NM_002880.4(RAF1):c.*556G>A GRCh37: Chr3:12625457 GRCh38: Chr3:12583958	RAF1		LEOPARD syndrome 2, Noonan syndrome 5	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 34309725.	NM_002880.4(RAF1):c.*495C>T GRCh37: Chr3:12625518 GRCh38: Chr3:12584019	RAF1		LEOPARD syndrome 2, Noonan syndrome 5	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90051026.	NM_002880.4(RAF1):c.*410A>G GRCh37: Chr3:12625603 GRCh38: Chr3:12584104	RAF1		Noonan syndrome 5, LEOPARD syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90216827.	NM_002880.4(RAF1):c.*404G>A GRCh37: Chr3:12625609 GRCh38: Chr3:12584110	RAF1		LEOPARD syndrome 2, Noonan syndrome 5	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 34309828.	NM_002880.4(RAF1):c.*348T>C GRCh37: Chr3:12625665 GRCh38: Chr3:12584166	RAF1		LEOPARD syndrome 2, not provided, Noonan syndrome 5	Benign/Likely benign (May 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 4063129.	NM_002880.4(RAF1):c.*266C>T GRCh37: Chr3:12625747 GRCh38: Chr3:12584248	RAF1		not provided, LEOPARD syndrome 2, Noonan syndrome 5	Benign (Jan 13, 2018)	criteria provided, multiple submitters, no conflicts
Select item 34309930.	NM_002880.4(RAF1):c.*190G>A GRCh37: Chr3:12625823 GRCh38: Chr3:12584324	RAF1		LEOPARD syndrome 2, Noonan syndrome 5	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 34310031.	NM_002880.4(RAF1):c.*162T>C GRCh37: Chr3:12625851 GRCh38: Chr3:12584352	RAF1		LEOPARD syndrome 2, Noonan syndrome 5	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34310132.	NM_002880.4(RAF1):c.*160C>T GRCh37: Chr3:12625853 GRCh38: Chr3:12584354	RAF1		LEOPARD syndrome 2, Noonan syndrome 5	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90305133.	NM_002880.4(RAF1):c.*120C>A GRCh37: Chr3:12625893 GRCh38: Chr3:12584394	RAF1		LEOPARD syndrome 2, Noonan syndrome 5	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34310234.	NM_002880.4(RAF1):c.*113T>G GRCh37: Chr3:12625900 GRCh38: Chr3:12584401	RAF1		LEOPARD syndrome 2, Noonan syndrome 5	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89943135.	NM_002880.4(RAF1):c.*110T>C GRCh37: Chr3:12625903 GRCh38: Chr3:12584404	RAF1		LEOPARD syndrome 2, Noonan syndrome 5	Benign/Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 4063036.	NM_002880.4(RAF1):c.*83C>T GRCh37: Chr3:12625930 GRCh38: Chr3:12584431	RAF1		not provided, LEOPARD syndrome 2, Noonan syndrome 5	Benign (Jan 12, 2018)	criteria provided, multiple submitters, no conflicts
Select item 89943237.	NM_002880.4(RAF1):c.*73T>A GRCh37: Chr3:12625940 GRCh38: Chr3:12584441	RAF1		LEOPARD syndrome 2, Noonan syndrome 5	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 64203738.	NC_000003.11:g.(?_12626003)_(12660230_?)dup GRCh37: Chr3:12626003-12660230 GRCh38: Chr3:12584504-12618731	RAF1		RASopathy	Uncertain significance (Nov 15, 2019)	criteria provided, single submitter
Select item 4062939.	NM_002880.4(RAF1):c.*2T>G GRCh37: Chr3:12626011 GRCh38: Chr3:12584512	RAF1		not specified	Likely benign (May 14, 2012)	criteria provided, single submitter
Select item 119887440.	NM_002880.4(RAF1):c.1947G>C (p.Ter649Tyr) GRCh37: Chr3:12626013 GRCh38: Chr3:12584514	RAF1		not provided	Uncertain significance (Sep 25, 2019)	criteria provided, single submitter
Select item 85311441.	NM_002880.4(RAF1):c.1947G>A (p.Ter649=) GRCh37: Chr3:12626013 GRCh38: Chr3:12584514	RAF1		Noonan syndrome and Noonan-related syndrome, RASopathy	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 149708142.	NM_002880.4(RAF1):c.1943T>C (p.Phe648Ser) GRCh37: Chr3:12626017 GRCh38: Chr3:12584518	RAF1	F567S, F587S, F648S, F668S, F534S, F615S	RASopathy	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 4462343.	NM_002880.4(RAF1):c.1941C>T (p.Val647=) GRCh37: Chr3:12626019 GRCh38: Chr3:12584520	RAF1		RASopathy	Benign (Apr 18, 2017)	reviewed by expert panel FDA Recognized Database
Select item 18151644.	NM_002880.4(RAF1):c.1939G>A (p.Val647Ile) GRCh37: Chr3:12626021 GRCh38: Chr3:12584522	RAF1	V647I, V566I, V586I, V533I, V614I, V667I	not provided	Uncertain significance (Aug 2, 2013)	criteria provided, single submitter
Select item 203247445.	NM_002880.4(RAF1):c.1938T>C (p.Pro646=) GRCh37: Chr3:12626022 GRCh38: Chr3:12584523	RAF1		RASopathy	Likely benign (Sep 24, 2022)	criteria provided, single submitter
Select item 41109346.	NM_002880.4(RAF1):c.1936C>T (p.Pro646Ser) GRCh37: Chr3:12626024 GRCh38: Chr3:12584525	RAF1	P646S, P585S, P613S, P666S, P532S, P565S	RASopathy, not provided	Uncertain significance (Aug 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 178291047.	NM_002880.4(RAF1):c.1932G>A (p.Arg644=) GRCh37: Chr3:12626028 GRCh38: Chr3:12584529	RAF1		Cardiovascular phenotype	Likely benign (May 27, 2021)	criteria provided, single submitter
Select item 70298448.	NM_002880.4(RAF1):c.1929G>A (p.Pro643=) GRCh37: Chr3:12626031 GRCh38: Chr3:12584532	RAF1		Cardiovascular phenotype, RASopathy	Likely benign (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 84971949.	NM_002880.4(RAF1):c.1928C>T (p.Pro643Leu) GRCh37: Chr3:12626032 GRCh38: Chr3:12584533	RAF1	P582L, P529L, P562L, P643L, P610L, P663L	RASopathy, not specified	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22917850.	NM_002880.4(RAF1):c.1927C>T (p.Pro643Ser) GRCh37: Chr3:12626033 GRCh38: Chr3:12584534	RAF1	P643S, P562S, P610S, P529S, P582S, P663S	not specified	Uncertain significance (Jun 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 206984651.	NM_002880.4(RAF1):c.1926C>G (p.Ser642=) GRCh37: Chr3:12626034 GRCh38: Chr3:12584535	RAF1		RASopathy	Likely benign (Jan 16, 2022)	criteria provided, single submitter
Select item 114426652.	NM_002880.4(RAF1):c.1923G>A (p.Thr641=) GRCh37: Chr3:12626037 GRCh38: Chr3:12584538	RAF1		RASopathy, Cardiovascular phenotype	Likely benign (Aug 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 169659653.	NM_002880.4(RAF1):c.1922C>G (p.Thr641Arg) GRCh37: Chr3:12626038 GRCh38: Chr3:12584539	RAF1	T527R, T560R, T580R, T608R, T641R, T661R	LEOPARD syndrome 2, Noonan syndrome 5	Uncertain significance (Jul 30, 2021)	criteria provided, single submitter
Select item 14229854.	NM_002880.4(RAF1):c.1922C>T (p.Thr641Met) GRCh37: Chr3:12626038 GRCh38: Chr3:12584539	RAF1	T641M, T580M, T608M, T560M, T661M, T527M	Dilated cardiomyopathy 1NN, RASopathy, not provided, Primary dilated cardiomyopathy	Conflicting interpretations of pathogenicity (Apr 1, 2023)	criteria provided, conflicting interpretations
Select item 99225955.	NM_002880.4(RAF1):c.1921A>G (p.Thr641Ala) GRCh37: Chr3:12626039 GRCh38: Chr3:12584540	RAF1	T527A, T560A, T580A, T608A, T641A, T661A	not provided, not specified, RASopathy	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 92899256.	NM_002880.4(RAF1):c.1895_1918del (p.Glu632_Thr640delinsAla) GRCh37: Chr3:12626042-12626065 GRCh38: Chr3:12584543-12584566	RAF1		not specified	Uncertain significance (Oct 22, 2019)	criteria provided, single submitter
Select item 178260157.	NM_002880.4(RAF1):c.1917G>A (p.Leu639=) GRCh37: Chr3:12626043 GRCh38: Chr3:12584544	RAF1		Cardiovascular phenotype, RASopathy	Likely benign (Mar 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4062858.	NM_002880.4(RAF1):c.1914G>A (p.Thr638=) GRCh37: Chr3:12626046 GRCh38: Chr3:12584547	RAF1		RASopathy	Benign (Apr 18, 2017)	reviewed by expert panel FDA Recognized Database
Select item 18151559.	NM_002880.4(RAF1):c.1913C>T (p.Thr638Met) GRCh37: Chr3:12626047 GRCh38: Chr3:12584548	RAF1	T638M, T524M, T557M, T577M, T658M, T605M	not specified, not provided, RASopathy, Cardiovascular phenotype	Conflicting interpretations of pathogenicity (Oct 14, 2022)	criteria provided, conflicting interpretations
Select item 178252360.	NM_002880.4(RAF1):c.1912A>T (p.Thr638Ser) GRCh37: Chr3:12626048 GRCh38: Chr3:12584549	RAF1	T658S, T577S, T605S, T638S, T524S, T557S	Cardiovascular phenotype	Uncertain significance (Jan 28, 2021)	criteria provided, single submitter
Select item 92875361.	NM_002880.4(RAF1):c.1910G>A (p.Cys637Tyr) GRCh37: Chr3:12626050 GRCh38: Chr3:12584551	RAF1	C523Y, C556Y, C576Y, C604Y, C637Y, C657Y	Cardiovascular phenotype, RASopathy, not specified	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 178241462.	NM_002880.4(RAF1):c.1907C>T (p.Ala636Val) GRCh37: Chr3:12626053 GRCh38: Chr3:12584554	RAF1	A522V, A603V, A636V, A656V, A575V, A555V	Cardiovascular phenotype	Uncertain significance (Mar 20, 2020)	criteria provided, single submitter
Select item 165523463.	NM_002880.4(RAF1):c.1905T>C (p.Asn635=) GRCh37: Chr3:12626055 GRCh38: Chr3:12584556	RAF1		RASopathy	Likely benign (Nov 24, 2020)	criteria provided, single submitter
Select item 57719964.	NM_002880.4(RAF1):c.1904A>G (p.Asn635Ser) GRCh37: Chr3:12626056 GRCh38: Chr3:12584557	RAF1	N635S, N655S, N554S, N521S, N574S, N602S	not provided, RASopathy	Uncertain significance (Aug 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 64164265.	NM_002880.4(RAF1):c.1901T>C (p.Ile634Thr) GRCh37: Chr3:12626059 GRCh38: Chr3:12584560	RAF1	I601T, I634T, I520T, I553T, I573T, I654T	Noonan syndrome 5, Cardiovascular phenotype, RASopathy	Uncertain significance (Jan 9, 2023)	criteria provided, multiple submitters, no conflicts
Select item 74221366.	NM_002880.4(RAF1):c.1899T>C (p.Asp633=) GRCh37: Chr3:12626061 GRCh38: Chr3:12584562	RAF1		RASopathy	Likely benign (Mar 19, 2022)	criteria provided, single submitter
Select item 206503167.	NM_002880.4(RAF1):c.1898A>G (p.Asp633Gly) GRCh37: Chr3:12626062 GRCh38: Chr3:12584563	RAF1	D519G, D600G, D572G, D633G, D552G, D653G	RASopathy	Uncertain significance (Sep 23, 2022)	criteria provided, single submitter
Select item 99439468.	NM_002880.4(RAF1):c.1897G>A (p.Asp633Asn) GRCh37: Chr3:12626063 GRCh38: Chr3:12584564	RAF1	D519N, D552N, D572N, D600N, D633N, D653N	not provided	Uncertain significance (Aug 27, 2020)	criteria provided, single submitter
Select item 256493169.	NM_002880.4(RAF1):c.1896G>C (p.Glu632Asp) GRCh37: Chr3:12626064 GRCh38: Chr3:12584565	RAF1	E551D, E518D, E571D, E599D, E632D, E652D	Cardiovascular phenotype	Uncertain significance (Jun 10, 2023)	criteria provided, single submitter
Select item 204678470.	NM_002880.4(RAF1):c.1896G>A (p.Glu632=) GRCh37: Chr3:12626064 GRCh38: Chr3:12584565	RAF1		RASopathy	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 197644071.	NM_002880.4(RAF1):c.1894G>A (p.Glu632Lys) GRCh37: Chr3:12626066 GRCh38: Chr3:12584567	RAF1	E599K, E518K, E551K, E632K, E652K, E571K	RASopathy	Uncertain significance (Oct 3, 2022)	criteria provided, single submitter
Select item 230204372.	NM_002880.4(RAF1):c.1889A>G (p.His630Arg) GRCh37: Chr3:12626071 GRCh38: Chr3:12584572	RAF1	H569R, H516R, H549R, H630R, H650R, H597R	Inborn genetic diseases	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 147450273.	NM_002880.4(RAF1):c.1886C>G (p.Ala629Gly) GRCh37: Chr3:12626074 GRCh38: Chr3:12584575	RAF1	A515G, A629G, A568G, A596G, A649G, A548G	RASopathy	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 86444874.	NM_002880.4(RAF1):c.1885G>T (p.Ala629Ser) GRCh37: Chr3:12626075 GRCh38: Chr3:12584576	RAF1	A515S, A596S, A629S, A649S, A548S, A568S	Cardiovascular phenotype, RASopathy	Conflicting interpretations of pathogenicity (Sep 7, 2022)	criteria provided, conflicting interpretations
Select item 187890475.	NM_002880.4(RAF1):c.1880G>C (p.Arg627Pro) GRCh37: Chr3:12626080 GRCh38: Chr3:12584581	RAF1	R513P, R546P, R566P, R594P, R627P, R647P	Cardiovascular phenotype, not provided	Conflicting interpretations of pathogenicity (Feb 5, 2023)	criteria provided, conflicting interpretations
Select item 18151476.	NM_002880.4(RAF1):c.1880G>A (p.Arg627Gln) GRCh37: Chr3:12626080 GRCh38: Chr3:12584581	RAF1	R627Q, R594Q, R513Q, R546Q, R566Q, R647Q	not provided, Dilated cardiomyopathy 1NN, RASopathy	Uncertain significance (Aug 11, 2021)	criteria provided, multiple submitters, no conflicts
Select item 18151377.	NM_002880.4(RAF1):c.1879C>T (p.Arg627Trp) GRCh37: Chr3:12626081 GRCh38: Chr3:12584582	RAF1	R627W, R513W, R546W, R594W, R566W, R647W	Cardiovascular phenotype, Noonan syndrome and Noonan-related syndrome, not provided, RASopathy	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 250681178.	NM_002880.4(RAF1):c.1876_1877insTC (p.His626fs) GRCh37: Chr3:12626083-12626084 GRCh38: Chr3:12584584-12584585	RAF1	H512fs, H545fs, H565fs, H593fs, H626fs, H646fs	not provided	Uncertain significance (Dec 20, 2022)	criteria provided, single submitter
Select item 52055479.	NM_002880.4(RAF1):c.1877A>G (p.His626Arg) GRCh37: Chr3:12626083 GRCh38: Chr3:12584584	RAF1	H626R, H646R, H512R, H545R, H565R, H593R	Inborn genetic diseases, not provided, RASopathy	Conflicting interpretations of pathogenicity (Jul 13, 2022)	criteria provided, conflicting interpretations
Select item 198734480.	NM_002880.4(RAF1):c.1875G>A (p.Leu625=) GRCh37: Chr3:12626085 GRCh38: Chr3:12584586	RAF1		RASopathy	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 39181381.	NM_002880.4(RAF1):c.1871C>G (p.Ser624Cys) GRCh37: Chr3:12626089 GRCh38: Chr3:12584590	RAF1	S624C, S563C, S644C, S510C, S543C, S591C	not provided, RASopathy	Conflicting interpretations of pathogenicity (Aug 23, 2022)	criteria provided, conflicting interpretations
Select item 39313582.	NM_002880.4(RAF1):c.1867C>T (p.Pro623Ser) GRCh37: Chr3:12626093 GRCh38: Chr3:12584594	RAF1	P623S, P562S, P590S, P509S, P542S, P643S	LEOPARD syndrome 2, Noonan syndrome 5, Dilated cardiomyopathy 1NN, not provided	Uncertain significance (Sep 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 178155883.	NM_002880.4(RAF1):c.1864G>A (p.Glu622Lys) GRCh37: Chr3:12626096 GRCh38: Chr3:12584597	RAF1	E642K, E561K, E622K, E508K, E541K, E589K	Cardiovascular phenotype	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 178153784.	NM_002880.4(RAF1):c.1863C>A (p.Ser621=) GRCh37: Chr3:12626097 GRCh38: Chr3:12584598	RAF1		Cardiovascular phenotype	Likely benign (May 30, 2022)	criteria provided, single submitter
Select item 76746285.	NM_002880.4(RAF1):c.1863C>T (p.Ser621=) GRCh37: Chr3:12626097 GRCh38: Chr3:12584598	RAF1		RASopathy, Cardiovascular phenotype	Likely benign (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 94943286.	NM_002880.4(RAF1):c.1858G>A (p.Ala620Thr) GRCh37: Chr3:12626102 GRCh38: Chr3:12584603	RAF1	A587T, A620T, A506T, A640T, A539T, A559T	RASopathy	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 51875287.	NM_002880.4(RAF1):c.1857C>T (p.Ser619=) GRCh37: Chr3:12626103 GRCh38: Chr3:12584604	RAF1		RASopathy, Cardiovascular phenotype	Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 213252888.	NM_002880.4(RAF1):c.1854G>C (p.Arg618=) GRCh37: Chr3:12626106 GRCh38: Chr3:12584607	RAF1		RASopathy	Likely benign (May 1, 2022)	criteria provided, single submitter
Select item 178137489.	NM_002880.4(RAF1):c.1853G>A (p.Arg618Gln) GRCh37: Chr3:12626107 GRCh38: Chr3:12584608	RAF1	R557Q, R585Q, R618Q, R537Q, R504Q, R638Q	Cardiovascular phenotype	Uncertain significance (Sep 9, 2021)	criteria provided, single submitter
Select item 178135290.	NM_002880.4(RAF1):c.1852C>A (p.Arg618=) GRCh37: Chr3:12626108 GRCh38: Chr3:12584609	RAF1		Cardiovascular phenotype	Likely benign (May 14, 2018)	criteria provided, single submitter
Select item 141376491.	NM_002880.4(RAF1):c.1852C>T (p.Arg618Trp) GRCh37: Chr3:12626108 GRCh38: Chr3:12584609	RAF1	R537W, R618W, R504W, R557W, R585W, R638W	RASopathy	Uncertain significance (May 14, 2022)	criteria provided, single submitter
Select item 178131392.	NM_002880.4(RAF1):c.1850A>T (p.Asn617Ile) GRCh37: Chr3:12626110 GRCh38: Chr3:12584611	RAF1	N536I, N556I, N637I, N503I, N617I, N584I	not provided, Cardiovascular phenotype	Conflicting interpretations of pathogenicity (Jun 27, 2022)	criteria provided, conflicting interpretations
Select item 102296093.	NM_002880.4(RAF1):c.1850A>G (p.Asn617Ser) GRCh37: Chr3:12626110 GRCh38: Chr3:12584611	RAF1	N503S, N536S, N556S, N584S, N617S, N637S	not provided, RASopathy	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 92875294.	NM_002880.4(RAF1):c.1842G>A (p.Pro614=) GRCh37: Chr3:12626118 GRCh38: Chr3:12584619	RAF1		Cardiovascular phenotype, RASopathy, not specified	Conflicting interpretations of pathogenicity (Jul 13, 2022)	criteria provided, conflicting interpretations
Select item 56177195.	NM_002880.4(RAF1):c.1842G>C (p.Pro614=) GRCh37: Chr3:12626118 GRCh38: Chr3:12584619	RAF1		not provided	Likely benign (Mar 14, 2018)	criteria provided, single submitter
Select item 140413996.	NM_002880.4(RAF1):c.1837_1838del (p.Leu613fs) GRCh37: Chr3:12626122-12626123 GRCh38: Chr3:12584623-12584624	RAF1	L532fs, L580fs, L552fs, L499fs, L613fs, L633fs	RASopathy	Uncertain significance (Aug 13, 2021)	criteria provided, single submitter
Select item 52167497.	NM_002880.4(RAF1):c.1837C>A (p.Leu613Ile) GRCh37: Chr3:12626123 GRCh38: Chr3:12584624	RAF1	L613I, L633I, L532I, L552I, L580I, L499I	Inborn genetic diseases	Likely pathogenic (May 31, 2017)	criteria provided, single submitter
Select item 1396098.	NM_002880.4(RAF1):c.1837C>G (p.Leu613Val) GRCh37: Chr3:12626123 GRCh38: Chr3:12584624	RAF1	L613V, L633V, L499V, L580V, L552V, L532V	Noonan syndrome	Pathogenic (Apr 3, 2017)	reviewed by expert panel FDA Recognized Database
Select item 178105099.	NM_002880.4(RAF1):c.1836T>C (p.Ser612=) GRCh37: Chr3:12626124 GRCh38: Chr3:12584625	RAF1		Cardiovascular phenotype	Likely benign (Feb 27, 2021)	criteria provided, single submitter
Select item 1038077100.	NM_002880.4(RAF1):c.1835C>G (p.Ser612Cys) GRCh37: Chr3:12626125 GRCh38: Chr3:12584626	RAF1	S551C, S579C, S531C, S612C, S632C, S498C	RASopathy	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter

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