Total 62 pathogenic variants reported for Multiple myeloma 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter) SNV
Germline		 Chr13:108208829 Pathogenic/Likely pathogenic DNA ligase IV deficiency
Inborn genetic diseases
Multiple myeloma
DNA ligase IV deficiency
Condition: not provided
prenatal LIG4 syndrome with aqueductal stenosis
LIG4-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA118975 rs_104894419

12 SubmittersRCV000008112RCV000623453RCV000763320RCV000399723RCV003483426RCV004532308
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) SNV
Germline/somatic		 Chr17:7674220 Pathogenic Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome
Sarcoma
Li-Fraumeni syndrome
Condition: not provided
Multiple myeloma
Neoplasm
11 conditions
Lymphoma
Ovarian neoplasm
Lip and oral cavity carcinoma
Rhabdomyosarcoma
Familial cancer of breast
Breast carcinoma
Ductal carcinoma in situ
Gastric cancer
Malignant tumor of urinary bladder
Adrenocortical carcinoma, hereditary
Adrenal cortex carcinoma
TP53-related disorder
Hereditary breast ovarian cancer syndrome
Colorectal cancer		 Reviewed By Expert Panel
 CA000387 rs_11540652

43 SubmittersRCV000013150RCV000115736RCV000148913RCV000197114RCV000235221RCV000424869RCV000426606RCV000763417RCV000790860RCV000785344RCV001255671RCV001257519RCV001270275RCV001554245RCV001527465RCV003162244RCV003332079RCV003466852RCV003996090RCV004745155RCV004794335RCV004813032
NM_000546.6(TP53):c.818G>A (p.Arg273His) SNV
Germline/somatic		 Chr17:7673802 Pathogenic Li-Fraumeni syndrome 1
Thyroid gland undifferentiated (anaplastic) carcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Squamous cell carcinoma of the head and neck
Lung adenocarcinoma
Neoplasm
Li-Fraumeni syndrome
Ovarian neoplasm
Rhabdomyosarcoma
Malignant tumor of breast
Multiple myeloma
Colorectal cancer
Familial cancer of breast
12 conditions
Gastric cancer
Breast and/or ovarian cancer
Adrenocortical carcinoma, hereditary
TP53-related disorder		 Reviewed By Expert Panel
 CA000434 rs_28934576

36 SubmittersRCV000013163RCV000013164RCV000115738RCV000254693RCV000422097RCV000431361RCV000441169RCV000463420RCV000785345RCV001257517RCV001358389RCV001527470RCV001527484RCV002476955RCV003162246RCV003492292RCV003466853RCV004797590
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) SNV
Germline/somatic		 Chr7:140753336 Pathogenic/Likely pathogenic Carcinoma of colon
Papillary thyroid carcinoma
Astrocytoma, low-grade, somatic
Nongerminomatous germ cell tumor
Melanoma
Non-small cell lung carcinoma
Condition: not provided
Cardio-facio-cutaneous syndrome
Multiple myeloma
Neoplasm
Cystic epithelial invagination containing papillae lined by columnar epithelium
Cerebral arteriovenous malformation
Colorectal cancer
Nephroblastoma
Malignant neoplastic disease
Lymphangioma
Vascular malformation
Cardiovascular phenotype
Thyroid gland undifferentiated (anaplastic) carcinoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA123643 rs_113488022

19 SubmittersRCV000014992RCV000014993RCV000014994RCV000022677RCV000067669RCV000037936RCV000080903RCV000208763RCV000430562RCV000443448RCV000662278RCV000860020RCV001030023RCV001248834RCV001254874RCV002051586RCV003458334RCV004018627RCV004719648
NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu) SNV
Germline/somatic		 Chr4:1806162 Pathogenic Thanatophoric dysplasia, type 2
Condition: not provided
Multiple myeloma
Thanatophoric dysplasia
See cases
Spermatocytic seminoma
FGFR3-related disorder
Thanatophoric dysplasia type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA126376 rs_78311289

18 SubmittersRCV000017728RCV000255799RCV000017729RCV003317039RCV003155029RCV000017730RCV004532376RCV003234912
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) SNV
Germline/somatic		 Chr4:1801837 Pathogenic Thanatophoric dysplasia type 1
14 conditions
FGFR3-related disorder
Achondroplasia
Connective tissue disorder
Thanatophoric dysplasia, type 2
Skeletal dysplasia with acanthosis nigricans
Epidermal nevus
Seborrheic keratosis
Multiple myeloma
Condition: not provided
13 conditions
Hamartoma
Thanatophoric dysplasia type 1
Thanatophoric dysplasia, type 2
Cervical cancer
FGFR3-related chondrodysplasia
See cases
Malignant tumor of urinary bladder
Muenke syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA126378 rs_121913482

43 SubmittersRCV000017731RCV000763118RCV002243648RCV001804739RCV002276552RCV003388567RCV000017733RCV000017734RCV000017735RCV000017732RCV000327823RCV000414822RCV001526641RCV004795425RCV001196297RCV001849270RCV003155030RCV003332082RCV004798733
NM_000059.4(BRCA2):c.476-1G>A SNV
Germline		 Chr13:32326241 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Multiple myeloma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA020789 rs_397507340

6 SubmittersRCV000031503RCV000772115RCV003529925RCV004595892
NM_000546.6(TP53):c.817C>T (p.Arg273Cys) SNV
Germline/somatic		 Chr17:7673803 Pathogenic/Likely pathogenic Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Malignant tumor of prostate
Condition: not provided
Neoplasm
Ovarian neoplasm
Adrenocortical carcinoma, hereditary
Multiple myeloma
TP53-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000432 rs_121913343

23 SubmittersRCV000144665RCV000131966RCV000205625RCV000149051RCV000254692RCV000431786RCV000785470RCV003466889RCV004595896RCV004745172
NM_004985.5(KRAS):c.182A>T (p.Gln61Leu) SNV
Somatic		 Chr12:25227342 Pathogenic Non-small cell lung carcinoma
Multiple myeloma
Medullary thyroid carcinoma
Neoplasm		 Criteria Provided
Single Submitter
 CA210876 rs_121913240

4 SubmittersRCV000038258RCV000984128RCV004813050RCV004668757
NM_004985.5(KRAS):c.35G>C (p.Gly12Ala) SNV
Germline/somatic		 Chr12:25245350 Pathogenic/Likely pathogenic Non-small cell lung carcinoma
Multiple myeloma
Condition: not provided
Gallbladder cancer
Lung cancer
KRAS-related disorder
12 conditions
Neoplasm		 Criteria Provided
Multiple Submitters
No Conflicts
 CA135567 rs_121913529

8 SubmittersRCV000038266RCV000984117RCV001355876RCV001374446RCV003996396RCV004549454RCV004795958RCV004668758
NM_206937.2(LIG4):c.2525C>A (p.Ala842Asp) SNV
Germline		 Chr13:108208744 Conflicting classifications of pathogenicity DNA ligase IV deficiency
Severe combined immunodeficiency due to DCLRE1C deficiency
DNA ligase IV deficiency
Multiple myeloma
Condition: not provided
not specified
LIG4-related disorder		 Criteria Provided
Conflicting Classifications
 CA7043477 rs_72660870

8 SubmittersRCV000272998RCV000383863RCV000763874RCV000857399RCV001820917RCV004537756
NM_003482.4(KMT2D):c.12844C>T (p.Arg4282Ter) SNV
Germline/somatic		 Chr12:49031861 Pathogenic Condition: not provided
Kabuki syndrome 1
Multiple myeloma
Kabuki syndrome
KMT2D-related disorder
Neoplasm		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16042794 rs_1057517992

9 SubmittersRCV000413702RCV000594502RCV000984092RCV003588627RCV004530513RCV004668916
NM_033360.4(KRAS):c.436G>C (p.Ala146Pro) SNV
Germline/somatic		 Chr12:25225628 Pathogenic/Likely pathogenic Multiple myeloma
RASopathy
Autoimmune lymphoproliferative syndrome type 4		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16602441 rs_121913527

3 SubmittersRCV000984134RCV001861474RCV002259922
NM_206937.2(LIG4):c.712A>G (p.Ile238Val) SNV
Germline		 Chr13:108210557 Conflicting classifications of pathogenicity DNA ligase IV deficiency
DNA ligase IV deficiency
Multiple myeloma		 Criteria Provided
Conflicting Classifications
 rs_149012859

4 SubmittersRCV000823935RCV003224478
NM_078626.3(CDKN2C):c.230C>A (p.Ala77Glu) SNV
Somatic		 Chr1:50973993 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 rs_746646631

1 SubmittersRCV000984122
NM_001378414.1(HDAC4):c.1580C>T (p.Pro527Leu) SNV
Somatic		 Chr2:239115264 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 rs_372078034

1 SubmittersRCV000984097
NM_022552.5(DNMT3A):c.7G>T (p.Ala3Ser) SNV
Somatic		 Chr2:25313978 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 rs_745380962

1 SubmittersRCV000984105
NM_001287491.2(TET3):c.2362G>A (p.Glu788Lys) SNV
Somatic		 Chr2:74048279 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 rs_751524927

1 SubmittersRCV000984091
NM_016302.4(CRBN):c.1100A>T (p.Asn367Ile) SNV
Somatic		 Chr3:3152504 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 rs_1575079076

1 SubmittersRCV000984098
NM_002447.4(MST1R):c.1477G>T (p.Asp493Tyr) SNV
Somatic		 Chr3:49898938 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 rs_1575446356

1 SubmittersRCV000984099
NM_004656.4(BAP1):c.1787G>C (p.Ser596Thr) SNV
Somatic		 Chr3:52403241 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 rs_1478603808

1 SubmittersRCV000984101
NM_001127208.3(TET2):c.1438C>T (p.Pro480Ser) SNV
Somatic		 Chr4:105235380 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 rs_1578673280

1 SubmittersRCV000984111
NM_005245.4(FAT1):c.2668G>A (p.Glu890Lys) SNV
Somatic		 Chr4:186707160 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 rs_1579484570

1 SubmittersRCV000984086
NM_005245.4(FAT1):c.720G>A (p.Met240Ile) SNV
Somatic		 Chr4:186709108 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 rs_1579491104

1 SubmittersRCV000984107
NM_001143676.3(SGK1):c.1379A>G (p.Asn460Ser) SNV
Somatic		 Chr6:134170860 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 rs_1171390403

1 SubmittersRCV000984130
NM_004690.4(LATS1):c.2449G>A (p.Glu817Lys) SNV
Somatic		 Chr6:149680019 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 rs_1582867955

1 SubmittersRCV000984108
NM_003529.3(H3C1):c.400G>C (p.Glu134Gln) SNV
Somatic		 Chr6:26020889 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 rs_764264135

1 SubmittersRCV000984119
NM_005321.3(H1-4):c.133A>C (p.Thr45Pro) SNV
Somatic		 Chr6:26156523 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 rs_951047896

1 SubmittersRCV000984116
NM_003511.3(H2AC16):c.44C>G (p.Ala15Gly) SNV
Somatic		 Chr6:27865398 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 rs_890521687

1 SubmittersRCV000984102
NM_003514.2(H2AC17):c.364G>A (p.Glu122Lys) SNV
Somatic		 Chr6:27892786 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 rs_1581495906

1 SubmittersRCV000984095
NM_170606.3(KMT2C):c.9181C>G (p.Gln3061Glu) SNV
Somatic		 Chr7:152176272 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 rs_1587941402

1 SubmittersRCV000984093
NM_170606.3(KMT2C):c.9137T>C (p.Leu3046Pro) SNV
Somatic		 Chr7:152176316 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 rs_1003155450

1 SubmittersRCV000984115
NM_002957.6(RXRA):c.671G>A (p.Ser224Asn) SNV
Somatic		 Chr9:134417218 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 rs_1588299621

1 SubmittersRCV000984088
NM_001130145.3(YAP1):c.488C>G (p.Ser163Cys) SNV
Somatic		 Chr11:102114310 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 rs_1591100766

1 SubmittersRCV000984109
NM_000051.4(ATM):c.5005G>A (p.Glu1669Lys) SNV
Somatic		 Chr11:108297382 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 rs_1591693095

1 SubmittersRCV000984123
NM_005475.3(SH2B3):c.1087C>T (p.Pro363Ser) SNV
Somatic		 Chr12:111447395 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 rs_1029296641

1 SubmittersRCV000984129
NM_006312.6(NCOR2):c.5909C>A (p.Ser1970Tyr) SNV
Somatic		 Chr12:124336959 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 rs_1593107841

1 SubmittersRCV000984103
NM_004119.3(FLT3):c.1714T>C (p.Tyr572His) SNV
Somatic		 Chr13:28034205 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 rs_1208575764

1 SubmittersRCV000984136
NM_014953.5(DIS3):c.2335A>T (p.Ile779Phe) SNV
Somatic		 Chr13:72761930 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 rs_1593835248

1 SubmittersRCV000984121
NM_001079668.3(NKX2-1):c.436G>A (p.Ala146Thr) SNV
Somatic		 Chr14:36519012 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 rs_1594406727

1 SubmittersRCV000984090
NM_002892.4(ARID4A):c.2614G>T (p.Glu872Ter) SNV
Somatic		 Chr14:58364703 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 rs_1594966387

1 SubmittersRCV000984133
NM_001400225.1(MGA):c.3733G>C (p.Glu1245Gln) SNV
Somatic		 Chr15:41729239 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 rs_1595889508

1 SubmittersRCV000984110
NM_004380.3(CREBBP):c.5188A>G (p.Ile1730Val) SNV
Somatic		 Chr16:3729859 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 rs_1159294530

1 SubmittersRCV000984087
NM_001042492.3(NF1):c.5476C>A (p.His1826Asn) SNV
Somatic		 Chr17:31327706 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 rs_1135402871

1 SubmittersRCV000984132
NM_001136139.4(TCF3):c.1693G>A (p.Ala565Thr) SNV
Somatic		 Chr19:1612327 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 rs_1599413207

1 SubmittersRCV000984089
NM_005027.4(PIK3R2):c.572C>A (p.Ser191Ter) SNV
Somatic		 Chr19:18161159 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 rs_1418268495

1 SubmittersRCV000984100
NM_005027.4(PIK3R2):c.850G>A (p.Val284Met) SNV
Somatic		 Chr19:18162000 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 rs_1212577459

1 SubmittersRCV000984112
NM_015474.4(SAMHD1):c.259G>C (p.Glu87Gln) SNV
Somatic		 Chr20:36946754 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 rs_1600394490

1 SubmittersRCV000984113
NM_198437.3(AURKA):c.1038C>A (p.Phe346Leu) SNV
Somatic		 Chr20:56370332 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 rs_1455074519

1 SubmittersRCV000984118
NM_001379451.1(BCORL1):c.2242C>T (p.Gln748Ter) SNV
Somatic		 ChrX:130015014 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 rs_1603113792

1 SubmittersRCV000984114
NM_001412.4(EIF1AX):c.295G>A (p.Glu99Lys) SNV
Somatic		 ChrX:20132224 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 rs_1603415028

1 SubmittersRCV000984125
NM_004187.5(KDM5C):c.67G>T (p.Glu23Ter) SNV
Somatic		 ChrX:53224823 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 rs_1602247047

1 SubmittersRCV000984096
NM_178129.5(P2RY8):c.869C>G (p.Pro290Arg) SNV
Somatic		 ChrX:1465690 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 rs_1603452612

1 SubmittersRCV000984127
NM_178129.5(P2RY8):c.869C>G (p.Pro290Arg) SNV
Somatic		 ChrY:1465690 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 rs_1603452612

1 SubmittersRCV000984127
NM_206937.2(LIG4):c.1242A>C (p.Val414=) SNV
Germline		 Chr13:108210027 Conflicting classifications of pathogenicity DNA ligase IV deficiency
Multiple myeloma
DNA ligase IV deficiency		 Criteria Provided
Conflicting Classifications
 rs_150828164

2 SubmittersRCV001027792RCV003224505
NM_206937.2(LIG4):c.691C>T (p.Pro231Ser) SNV
Germline		 Chr13:108210578 Conflicting classifications of pathogenicity DNA ligase IV deficiency
not specified
Multiple myeloma
DNA ligase IV deficiency		 Criteria Provided
Conflicting Classifications
 rs_3093765

3 SubmittersRCV001035435RCV003151267RCV002481849