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Items: 1 to 100 of 340

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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
2.
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
3.
GRCh37:
Chr3:33769898-40703942
GRCh38:
Chr3:33728406-40662451
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
4.
GRCh37:
Chr3:37493856-38991863
GRCh38:
Chr3:37452365-38950372
Brugada syndromePathogenic
(Oct 1, 2018)
criteria provided, single submitter
5.
GRCh37:
Chr3:38495793
GRCh38:
Chr3:38454302
ACVR2B, ACVR2B-AS1Heterotaxy, visceral, 4, autosomalUncertain significance
(Apr 27, 2017)
criteria provided, single submitter
6.
GRCh37:
Chr3:38495814
GRCh38:
Chr3:38454323
ACVR2B, ACVR2B-AS1M1VHeterotaxy, visceral, 4, autosomalUncertain significance
(Aug 26, 2021)
criteria provided, single submitter
7.
GRCh37:
Chr3:38495819
GRCh38:
Chr3:38454328
ACVR2B, ACVR2B-AS1not providedLikely benignno assertion criteria provided
8.
GRCh37:
Chr3:38495822
GRCh38:
Chr3:38454331
ACVR2B-AS1, ACVR2BHeterotaxy, visceral, 4, autosomalLikely benign
(Feb 21, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr3:38495823
GRCh38:
Chr3:38454332
ACVR2B-AS1, ACVR2BP4SHeterotaxy, visceral, 4, autosomalUncertain significance
(Feb 4, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr3:38495833
GRCh38:
Chr3:38454342
ACVR2B, ACVR2B-AS1A7VHeterotaxy, visceral, 4, autosomalUncertain significance
(Nov 19, 2021)
criteria provided, single submitter
11.
GRCh37:
Chr3:38495835
GRCh38:
Chr3:38454344
ACVR2B, ACVR2B-AS1L8FHeterotaxy, visceral, 4, autosomalUncertain significance
(Jul 17, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr3:38495837
GRCh38:
Chr3:38454346
ACVR2B, ACVR2B-AS1Heterotaxy, visceral, 4, autosomalUncertain significance
(Jan 15, 2018)
criteria provided, single submitter
13.
GRCh37:
Chr3:38495858
GRCh38:
Chr3:38454367
ACVR2B, ACVR2B-AS1Heterotaxy, visceral, 4, autosomalUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr3:38495873
GRCh38:
Chr3:38454382
ACVR2B, ACVR2B-AS1Heterotaxy, visceral, 4, autosomalLikely benign
(May 3, 2021)
criteria provided, single submitter
15.
GRCh37:
Chr3:38496065
GRCh38:
Chr3:38454574
ACVR2B, ACVR2B-AS1not providedBenign
(Nov 10, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr3:38518768-38674808
GRCh38:
Chr3:38477277-38633317
LOC110121287, EXOG, LOC110121269, LOC110121286, ACVR2B, SCN5ABrugada syndromeUncertain significance
(Aug 29, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr3:38518787
GRCh38:
Chr3:38477296
ACVR2BR21HHeterotaxy, visceral, 4, autosomalUncertain significance
(Aug 10, 2021)
criteria provided, single submitter
18.
GRCh37:
Chr3:38518824
GRCh38:
Chr3:38477333
ACVR2BHeterotaxy, visceral, 4, autosomalLikely benign
(Jan 22, 2020)
criteria provided, single submitter
19.
GRCh37:
Chr3:38518825
GRCh38:
Chr3:38477334
ACVR2BA34THeterotaxy, visceral, 4, autosomalUncertain significance
(Jun 13, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr3:38518837
GRCh38:
Chr3:38477346
ACVR2BHeterotaxy, visceral, 4, autosomalLikely benign
(Dec 24, 2020)
criteria provided, single submitter
21.
GRCh37:
Chr3:38518844
GRCh38:
Chr3:38477353
ACVR2BR40Hnot specified, Heterotaxy, visceral, 4, autosomalBenign/Likely benign
(Oct 14, 2022)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr3:38518868
GRCh38:
Chr3:38477377
ACVR2BR48LHeterotaxy, visceral, 4, autosomalUncertain significance
(Nov 7, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr3:38518872
GRCh38:
Chr3:38477381
ACVR2BHeterotaxy, visceral, 4, autosomalBenign
(Sep 5, 2022)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr3:38518873
GRCh38:
Chr3:38477382
ACVR2BE50KHeterotaxy, visceral, 4, autosomalUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr3:38518902
GRCh38:
Chr3:38477411
ACVR2Bnot providedLikely benign
(Jan 2, 2019)
criteria provided, single submitter
26.
GRCh37:
Chr3:38518935
GRCh38:
Chr3:38477444
ACVR2BHeterotaxy, visceral, 4, autosomalLikely benign
(Aug 7, 2022)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr3:38518968
GRCh38:
Chr3:38477477
ACVR2BHeterotaxy, visceral, 4, autosomalLikely benign
(Sep 27, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr3:38518986
GRCh38:
Chr3:38477495
ACVR2BHeterotaxy, visceral, 4, autosomalUncertain significance
(Jul 24, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr3:38518992
GRCh38:
Chr3:38477501
ACVR2BHeterotaxy, visceral, 4, autosomalLikely benign
(Jan 13, 2018)
criteria provided, single submitter
30.
GRCh37:
Chr3:38518995
GRCh38:
Chr3:38477504
ACVR2BHeterotaxy, visceral, 4, autosomalLikely benign
(Jan 29, 2019)
criteria provided, single submitter
31.
GRCh37:
Chr3:38518997
GRCh38:
Chr3:38477506
ACVR2BHeterotaxy, visceral, 4, autosomalLikely benign
(May 25, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr3:38519344
GRCh38:
Chr3:38477853
ACVR2BHeterotaxy, visceral, 4, autosomalLikely benign
(Aug 13, 2021)
criteria provided, single submitter
33.
GRCh37:
Chr3:38519374
GRCh38:
Chr3:38477883
ACVR2BE95QHeterotaxy, visceral, 4, autosomalUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr3:38519424
GRCh38:
Chr3:38477933
ACVR2Bnot specified, not provided, Heterotaxy, visceral, 4, autosomal
Benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr3:38519434
GRCh38:
Chr3:38477943
ACVR2BH115YHeterotaxy, visceral, 4, autosomalUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
36.
GRCh37:
Chr3:38519442
GRCh38:
Chr3:38477951
ACVR2BHeterotaxy, visceral, 4, autosomalLikely benign
(Jul 26, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr3:38519457
GRCh38:
Chr3:38477966
ACVR2BHeterotaxy, visceral, 4, autosomal, not providedLikely benign
(Nov 2, 2021)
criteria provided, single submitter
38.
GRCh37:
Chr3:38519475
GRCh38:
Chr3:38477984
ACVR2BHeterotaxy, visceral, 4, autosomalBenign
(Aug 20, 2021)
criteria provided, single submitter
39.
GRCh37:
Chr3:38519481
GRCh38:
Chr3:38477990
ACVR2BHeterotaxy, visceral, 4, autosomalLikely benign
(Mar 6, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr3:38519623
GRCh38:
Chr3:38478132
ACVR2BHeterotaxy, visceral, 4, autosomalLikely benign
(Jun 12, 2018)
criteria provided, single submitter
41.
GRCh37:
Chr3:38519644
GRCh38:
Chr3:38478153
ACVR2BP128RInborn genetic diseasesUncertain significance
(Oct 25, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr3:38519667
GRCh38:
Chr3:38478176
ACVR2BL136FHeterotaxy, visceral, 4, autosomalUncertain significance
(Aug 28, 2021)
criteria provided, single submitter
43.
GRCh37:
Chr3:38519671
GRCh38:
Chr3:38478180
ACVR2BT137MHeterotaxy, visceral, 4, autosomalUncertain significance
(Oct 20, 2021)
criteria provided, single submitter
44.
GRCh37:
Chr3:38519740
GRCh38:
Chr3:38478249
ACVR2BY160FHeterotaxy, visceral, 4, autosomalUncertain significance
(Jan 15, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr3:38519742
GRCh38:
Chr3:38478251
ACVR2BR161WHeterotaxy, visceral, 4, autosomalUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
46.
GRCh37:
Chr3:38519743
GRCh38:
Chr3:38478252
ACVR2BR161QHeterotaxy, visceral, 4, autosomalLikely benign
(Jan 12, 2018)
criteria provided, single submitter
47.
GRCh37:
Chr3:38519870
GRCh38:
Chr3:38478379
ACVR2BP176RHeterotaxy, visceral, 4, autosomalUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
48.
GRCh37:
Chr3:38519885
GRCh38:
Chr3:38478394
ACVR2BP181LHeterotaxy, visceral, 4, autosomalUncertain significance
(Oct 21, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr3:38519889
GRCh38:
Chr3:38478398
ACVR2BHeterotaxy, visceral, 4, autosomalUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
50.
GRCh37:
Chr3:38519896
GRCh38:
Chr3:38478405
ACVR2BV185LHeterotaxy, visceral, 4, autosomalUncertain significance
(Feb 3, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr3:38519896
GRCh38:
Chr3:38478405
ACVR2BV185LHeterotaxy, visceral, 4, autosomalUncertain significance
(Aug 30, 2021)
criteria provided, single submitter
52.
GRCh37:
Chr3:38519995
GRCh38:
Chr3:38478504
ACVR2BI218FHeterotaxy, visceral, 4, autosomalUncertain significance
(Jul 6, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr3:38520014
GRCh38:
Chr3:38478523
ACVR2Bnot specified, not provided, Heterotaxy, visceral, 4, autosomal
Benign
(Sep 27, 2022)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr3:38520019
GRCh38:
Chr3:38478528
ACVR2Bnot providedLikely benign
(Oct 16, 2017)
criteria provided, single submitter
55.
GRCh37:
Chr3:38520610
GRCh38:
Chr3:38479119
ACVR2Bnot provided, Heterotaxy, visceral, 4, autosomalBenign
(Nov 17, 2020)
criteria provided, single submitter
56.
GRCh37:
Chr3:38520654
GRCh38:
Chr3:38479163
ACVR2BHeterotaxy, visceral, 4, autosomalLikely benign
(Oct 13, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr3:38520723
GRCh38:
Chr3:38479232
ACVR2BHeterotaxy, visceral, 4, autosomalBenign
(Jul 12, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr3:38520727
GRCh38:
Chr3:38479236
ACVR2BV259LHeterotaxy, visceral, 4, autosomalUncertain significance
(Sep 28, 2022)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr3:38521001
GRCh38:
Chr3:38479510
ACVR2Bnot providedBenign
(Nov 10, 2018)
criteria provided, single submitter
60.
GRCh37:
Chr3:38521096
GRCh38:
Chr3:38479605
ACVR2Bnot providedBenign
(Jun 18, 2021)
criteria provided, single submitter
61.
GRCh37:
Chr3:38521156
GRCh38:
Chr3:38479665
ACVR2Bnot specified, not provided, Heterotaxy, visceral, 4, autosomal
Benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr3:38521157
GRCh38:
Chr3:38479666
ACVR2Bnot specified, Heterotaxy, visceral, 4, autosomalBenign/Likely benign
(Oct 27, 2022)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr3:38521166
GRCh38:
Chr3:38479675
ACVR2BHeterotaxy, visceral, 4, autosomalUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
64.
GRCh37:
Chr3:38521207
GRCh38:
Chr3:38479716
ACVR2BHeterotaxy, visceral, 4, autosomalUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
65.
GRCh37:
Chr3:38521237
GRCh38:
Chr3:38479746
ACVR2Bnot providedLikely benign
(Sep 29, 2017)
criteria provided, single submitter
66.
GRCh37:
Chr3:38521283
GRCh38:
Chr3:38479792
ACVR2BR309CHeterotaxy, visceral, 4, autosomalUncertain significance
(Aug 9, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr3:38521284
GRCh38:
Chr3:38479793
ACVR2BR309HHeterotaxy, visceral, 4, autosomalUncertain significance
(Jul 12, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr3:38521288
GRCh38:
Chr3:38479797
ACVR2BHeterotaxy, visceral, 4, autosomalUncertain significance
(Nov 1, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr3:38521425
GRCh38:
Chr3:38479934
ACVR2Bnot providedBenign
(Nov 10, 2018)
criteria provided, single submitter
70.
GRCh37:
Chr3:38522770
GRCh38:
Chr3:38481279
ACVR2Bnot providedBenign
(Jun 18, 2021)
criteria provided, single submitter
71.
GRCh37:
Chr3:38522823
GRCh38:
Chr3:38481332
ACVR2BHeterotaxy, visceral, 4, autosomal, not specifiedLikely benign
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr3:38522839
GRCh38:
Chr3:38481348
ACVR2BHeterotaxy, visceral, 4, autosomalUncertain significance
(Aug 30, 2021)
criteria provided, single submitter
73.
GRCh37:
Chr3:38522861
GRCh38:
Chr3:38481370
ACVR2BV327IInborn genetic diseases, Heterotaxy, visceral, 4, autosomalUncertain significance
(Jul 19, 2022)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr3:38522875
GRCh38:
Chr3:38481384
ACVR2Bnot specified, not provided, Heterotaxy, visceral, 4, autosomal
Benign
(Sep 27, 2022)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr3:38522950
GRCh38:
Chr3:38481459
ACVR2Bnot providedLikely benign
(Nov 6, 2018)
criteria provided, single submitter
76.
GRCh37:
Chr3:38523495
GRCh38:
Chr3:38482004
ACVR2Bnot providedBenign
(Nov 10, 2018)
criteria provided, single submitter
77.
GRCh37:
Chr3:38523684
GRCh38:
Chr3:38482193
ACVR2Bnot specified, Heterotaxy, visceral, 4, autosomalBenign/Likely benign
(Nov 2, 2022)
criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr3:38523754
GRCh38:
Chr3:38482263
ACVR2BHeterotaxy, visceral, 4, autosomalBenign
(Mar 21, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr3:38523761
GRCh38:
Chr3:38482270
ACVR2BR383CHeterotaxy, visceral, 4, autosomalLikely pathogenic
(Oct 14, 2022)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr3:38523762
GRCh38:
Chr3:38482271
ACVR2BR383HHeterotaxy, visceral, 4, autosomalUncertain significance
(Mar 18, 2020)
criteria provided, single submitter
81.
GRCh37:
Chr3:38523765
GRCh38:
Chr3:38482274
ACVR2BI384THeterotaxy, visceral, 4, autosomalUncertain significance
(Oct 17, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr3:38523770
GRCh38:
Chr3:38482279
ACVR2BM386LHeterotaxy, visceral, 4, autosomalUncertain significance
(Aug 13, 2021)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr3:38523793
GRCh38:
Chr3:38482302
ACVR2BHeterotaxy, visceral, 4, autosomalLikely benign
(Jul 30, 2020)
criteria provided, single submitter
84.
GRCh37:
Chr3:38523800
GRCh38:
Chr3:38482309
ACVR2BL396VHeterotaxy, visceral, 4, autosomalUncertain significance
(Jul 30, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr3:38523809
GRCh38:
Chr3:38482318
ACVR2BR399GHeterotaxy, visceral, 4, autosomalUncertain significance
(Mar 3, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr3:38523823
GRCh38:
Chr3:38482332
ACVR2BHeterotaxy, visceral, 4, autosomalLikely benign
(Jan 17, 2019)
criteria provided, single submitter
87.
GRCh37:
Chr3:38523841
GRCh38:
Chr3:38482350
ACVR2BHeterotaxy, visceral, 4, autosomalUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
88.
GRCh37:
Chr3:38523926
GRCh38:
Chr3:38482435
ACVR2BV407MHeterotaxy, visceral, 4, autosomalUncertain significance
(Jun 5, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr3:38523976
GRCh38:
Chr3:38482485
ACVR2BHeterotaxy, visceral, 4, autosomalConflicting interpretations of pathogenicity
(Feb 2, 2022)
criteria provided, conflicting interpretations
90.
GRCh37:
Chr3:38523994
GRCh38:
Chr3:38482503
ACVR2BHeterotaxy, visceral, 4, autosomalLikely benign
(Apr 10, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr3:38524058
GRCh38:
Chr3:38482567
ACVR2Bnot specified, Heterotaxy, visceral, 4, autosomalBenign
(Oct 22, 2022)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr3:38524086
GRCh38:
Chr3:38482595
ACVR2Bnot providedBenign
(Jun 18, 2021)
criteria provided, single submitter
93.
GRCh37:
Chr3:38524194
GRCh38:
Chr3:38482703
ACVR2Bnot providedBenign
(Nov 10, 2018)
criteria provided, single submitter
94.
GRCh37:
Chr3:38524311
GRCh38:
Chr3:38482820
ACVR2Bnot providedBenign
(Nov 10, 2018)
criteria provided, single submitter
95.
GRCh37:
Chr3:38524328
GRCh38:
Chr3:38482837
ACVR2Bnot providedBenign
(Jun 18, 2021)
criteria provided, single submitter
96.
GRCh37:
Chr3:38524338
GRCh38:
Chr3:38482847
ACVR2Bnot providedBenign
(Jun 18, 2021)
criteria provided, single submitter
97.
GRCh37:
Chr3:38524363
GRCh38:
Chr3:38482872
ACVR2Bnot providedBenign
(Jun 18, 2021)
criteria provided, single submitter
98.
GRCh37:
Chr3:38524694
GRCh38:
Chr3:38483203
ACVR2BHeterotaxy, visceral, 4, autosomalBenign/Likely benign
(Mar 23, 2021)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr3:38524728
GRCh38:
Chr3:38483237
ACVR2BR482WHeterotaxy, visceral, 4, autosomalBenign/Likely benign
(Dec 24, 2021)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr3:38524729
GRCh38:
Chr3:38483238
ACVR2BR482QHeterotaxy, visceral, 4, autosomal, Inborn genetic diseasesUncertain significance
(Sep 17, 2021)
criteria provided, multiple submitters, no conflicts
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