ClinVar for MedGen (Select 10122) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 10406771.	NM_206937.2(LIG4):c.1704_1705delinsCG (p.Met569Val) GRCh37: Chr13:108861912-108861913 GRCh38: Chr13:108209564-108209565	LIG4	M569V, M502V, M581V	Multiple myeloma, DNA ligase IV deficiency, DNA ligase IV deficiency	Uncertain significance (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10295892.	NM_206937.2(LIG4):c.2422T>C (p.Ser808Pro) GRCh37: Chr13:108861195 GRCh38: Chr13:108208847	LIG4	S808P, S741P, S820P	Multiple myeloma	Uncertain significance (Jul 29, 2019)	criteria provided, single submitter
Select item 10023933.	NM_206937.2(LIG4):c.524T>C (p.Ile175Thr) GRCh37: Chr13:108863093 GRCh38: Chr13:108210745	LIG4	I108T, I175T, I187T	DNA ligase IV deficiency, Multiple myeloma, DNA ligase IV deficiency	Uncertain significance (Aug 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 8813024.	NM_206937.2(LIG4):c.1705A>G (p.Met569Val) GRCh37: Chr13:108861912 GRCh38: Chr13:108209564	LIG4	M569V, M581V, M502V	DNA ligase IV deficiency, Multiple myeloma, DNA ligase IV deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency	Uncertain significance (Dec 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 8447595.	NM_206937.2(LIG4):c.381G>C (p.Met127Ile) GRCh37: Chr13:108863236 GRCh38: Chr13:108210888	LIG4	M60I, M127I, M139I	DNA ligase IV deficiency, Multiple myeloma, DNA ligase IV deficiency	Uncertain significance (Aug 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 8346976.	NM_206937.2(LIG4):c.691C>T (p.Pro231Ser) GRCh37: Chr13:108862926 GRCh38: Chr13:108210578	LIG4	P243S, P164S, P231S	DNA ligase IV deficiency, DNA ligase IV deficiency, Multiple myeloma	Conflicting interpretations of pathogenicity (Sep 21, 2022)	criteria provided, conflicting interpretations
Select item 8279847.	NM_206937.2(LIG4):c.1242A>C (p.Val414=) GRCh37: Chr13:108862375 GRCh38: Chr13:108210027	LIG4		DNA ligase IV deficiency, DNA ligase IV deficiency, Multiple myeloma	Conflicting interpretations of pathogenicity (Aug 19, 2022)	criteria provided, conflicting interpretations
Select item 8003548.	NM_004119.3(FLT3):c.1714T>C (p.Tyr572His) GRCh37: Chr13:28608342 GRCh38: Chr13:28034205	FLT3	Y572H	Multiple myeloma	Likely pathogenic (Aug 31, 2019)	no assertion criteria provided
Select item 8003539.	NC_000004.12:g.104314621_104314622insG GRCh37: Chr4:105235778-105235779 GRCh38: Chr4:104314621-104314622	TET2		Multiple myeloma	Likely pathogenic (Aug 31, 2019)	no assertion criteria provided
Select item 80035210.	NM_002892.4(ARID4A):c.2614G>T (p.Glu872Ter) GRCh37: Chr14:58831421 GRCh38: Chr14:58364703	ARID4A	E872*	Multiple myeloma	Likely pathogenic (Aug 31, 2019)	no assertion criteria provided
Select item 80035111.	NM_001042492.3(NF1):c.5476C>A (p.His1826Asn) GRCh37: Chr17:29654724 GRCh38: Chr17:31327706	NF1	H1805N, H1826N	Multiple myeloma	Likely pathogenic (Aug 31, 2019)	no assertion criteria provided
Select item 80035012.	NM_001378743.1(CYLD):c.2040dup (p.Asp681fs) GRCh37: Chr16:50820851-50820852 GRCh38: Chr16:50786940-50786941	CYLD, CYLD-AS2	D678fs, D681fs, D456fs, D668fs	Multiple myeloma	Likely pathogenic (Aug 31, 2019)	no assertion criteria provided
Select item 80034913.	NM_001143676.3(SGK1):c.1379A>G (p.Asn460Ser) GRCh37: Chr6:134491998 GRCh38: Chr6:134170860	SGK1	N393S, N321S, N379S, N460S, N365S	Multiple myeloma	Likely pathogenic (Aug 31, 2019)	no assertion criteria provided
Select item 80034814.	NM_005475.3(SH2B3):c.1087C>T (p.Pro363Ser) GRCh37: Chr12:111885199 GRCh38: Chr12:111447395	SH2B3	P161S, P363S	Multiple myeloma	Likely pathogenic (Aug 31, 2019)	no assertion criteria provided
Select item 80034715.	NM_178129.5(P2RY8):c.869C>G (p.Pro290Arg) GRCh37: ChrX:1584583 ChrY:1534583 GRCh38: ChrX:1465690 ChrY:1465690	P2RY8	P290R	Multiple myeloma	Likely pathogenic (Aug 31, 2019)	no assertion criteria provided
Select item 80034616.	NM_002185.5(IL7R):c.205C>G (p.Leu69Val) GRCh37: Chr5:35861076 GRCh38: Chr5:35860974	IL7R	L69V	Multiple myeloma	Likely pathogenic (Aug 31, 2019)	no assertion criteria provided
Select item 80034517.	NM_001412.4(EIF1AX):c.295G>A (p.Glu99Lys) GRCh37: ChrX:20150342 GRCh38: ChrX:20132224	EIF1AX	E99K	Multiple myeloma	Likely pathogenic (Aug 31, 2019)	no assertion criteria provided
Select item 80034418.	NM_000465.4(BARD1):c.1946_1966del (p.Glu649_Glu655del) GRCh37: Chr2:215595170-215595190 GRCh38: Chr2:214730446-214730466	BARD1		Multiple myeloma	Likely pathogenic (Aug 31, 2019)	no assertion criteria provided
Select item 80034319.	NM_000051.4(ATM):c.5005G>A (p.Glu1669Lys) GRCh37: Chr11:108168109 GRCh38: Chr11:108297382	ATM	E1669K	Multiple myeloma	Likely pathogenic (Aug 31, 2019)	no assertion criteria provided
Select item 80034220.	NM_078626.3(CDKN2C):c.230C>A (p.Ala77Glu) GRCh37: Chr1:51439665 GRCh38: Chr1:50973993	CDKN2C	A77E	Multiple myeloma	Likely pathogenic (Aug 31, 2019)	no assertion criteria provided
Select item 80034121.	NM_014953.5(DIS3):c.2335A>T (p.Ile779Phe) GRCh37: Chr13:73336068 GRCh38: Chr13:72761930	DIS3	I749F, I779F, I617F, I656F	Multiple myeloma	Likely pathogenic (Aug 31, 2019)	no assertion criteria provided
Select item 80034022.	NM_004260.4(RECQL4):c.3136G>A (p.Glu1046Lys) GRCh37: Chr8:145737627 GRCh38: Chr8:144512244	RECQL4	E1046K	Baller-Gerold syndrome	Uncertain significance (Sep 23, 2021)	criteria provided, single submitter
Select item 80033923.	NM_003529.3(H3C1):c.400G>C (p.Glu134Gln) GRCh37: Chr6:26021117 GRCh38: Chr6:26020889	H3C1	E134Q	Multiple myeloma	Likely pathogenic (Aug 31, 2019)	no assertion criteria provided
Select item 80033824.	NM_198437.3(AURKA):c.1038C>A (p.Phe346Leu) GRCh37: Chr20:54945388 GRCh38: Chr20:56370332	AURKA	F346L	Multiple myeloma	Likely pathogenic (Aug 31, 2019)	no assertion criteria provided
Select item 80033725.	NM_005321.3(H1-4):c.133A>C (p.Thr45Pro) GRCh37: Chr6:26156751 GRCh38: Chr6:26156523	H1-4	T45P	Multiple myeloma	Likely pathogenic (Aug 31, 2019)	no assertion criteria provided
Select item 80033626.	NM_170606.3(KMT2C):c.9137T>C (p.Leu3046Pro) GRCh37: Chr7:151873401 GRCh38: Chr7:152176316	KMT2C	L3046P	Multiple myeloma	Likely pathogenic (Aug 31, 2019)	no assertion criteria provided
Select item 80033527.	NM_001379451.1(BCORL1):c.2242C>T (p.Gln748Ter) GRCh37: ChrX:129148990 GRCh38: ChrX:130015014	BCORL1	Q748*	Multiple myeloma	Likely pathogenic (Aug 31, 2019)	no assertion criteria provided
Select item 80033428.	NM_015474.4(SAMHD1):c.259G>C (p.Glu87Gln) GRCh37: Chr20:35575157 GRCh38: Chr20:36946754	SAMHD1	E87Q	Multiple myeloma	Likely pathogenic (Aug 31, 2019)	no assertion criteria provided
Select item 80033329.	NM_005027.4(PIK3R2):c.850G>A (p.Val284Met) GRCh37: Chr19:18272810 GRCh38: Chr19:18162000	PIK3R2	V284M	Multiple myeloma	Likely pathogenic (Aug 31, 2019)	no assertion criteria provided
Select item 80033230.	NM_001127208.3(TET2):c.1438C>T (p.Pro480Ser) GRCh37: Chr4:106156537 GRCh38: Chr4:105235380	TET2, TET2-AS1	P480S	Multiple myeloma	Likely pathogenic (Aug 31, 2019)	no assertion criteria provided
Select item 80033131.	NM_001400225.1(MGA):c.3733G>C (p.Glu1245Gln) GRCh37: Chr15:42021437 GRCh38: Chr15:41729239	MGA	E1245Q	Multiple myeloma	Likely pathogenic (Aug 31, 2019)	no assertion criteria provided
Select item 80033032.	NM_001130145.3(YAP1):c.488C>G (p.Ser163Cys) GRCh37: Chr11:101985041 GRCh38: Chr11:102114310	YAP1	S163C	Multiple myeloma	Likely pathogenic (Aug 31, 2019)	no assertion criteria provided
Select item 80032933.	NM_004690.4(LATS1):c.2449G>A (p.Glu817Lys) GRCh37: Chr6:150001155 GRCh38: Chr6:149680019	LATS1	E537K, E712K, E817K	Multiple myeloma	Likely pathogenic (Aug 31, 2019)	no assertion criteria provided
Select item 80032834.	NM_005245.4(FAT1):c.720G>A (p.Met240Ile) GRCh37: Chr4:187630262 GRCh38: Chr4:186709108	FAT1	M240I	Multiple myeloma	Likely pathogenic (Aug 31, 2019)	no assertion criteria provided
Select item 80032735.	NM_006494.4(ERF):c.228G>A (p.Met76Ile) GRCh37: Chr19:42754512 GRCh38: Chr19:42250360	ERF	M76I, M1I	Multiple myeloma	Likely pathogenic (Aug 31, 2019)	no assertion criteria provided
Select item 80032636.	NM_022552.5(DNMT3A):c.7G>T (p.Ala3Ser) GRCh37: Chr2:25536847 GRCh38: Chr2:25313978	DNMT3A	A3S	Multiple myeloma	Likely pathogenic (Aug 31, 2019)	no assertion criteria provided
Select item 80032537.	NM_006312.6(NCOR2):c.5909C>A (p.Ser1970Tyr) GRCh37: Chr12:124821505 GRCh38: Chr12:124336959	NCOR2	S1960Y, S1970Y	Multiple myeloma	Likely pathogenic (Aug 31, 2019)	no assertion criteria provided
Select item 80032438.	NM_003511.3(H2AC16):c.44C>G (p.Ala15Gly) GRCh37: Chr6:27833176 GRCh38: Chr6:27865398	H2AC16	A15G	Multiple myeloma	Likely pathogenic (Aug 31, 2019)	no assertion criteria provided
Select item 80032339.	NM_004656.4(BAP1):c.1787G>C (p.Ser596Thr) GRCh37: Chr3:52437257 GRCh38: Chr3:52403241	BAP1	S596T	Multiple myeloma	Likely pathogenic (Aug 31, 2019)	no assertion criteria provided
Select item 80032240.	NM_005027.4(PIK3R2):c.572C>A (p.Ser191Ter) GRCh37: Chr19:18271969 GRCh38: Chr19:18161159	LOC130063979, PIK3R2	S191*	Multiple myeloma	Likely pathogenic (Aug 31, 2019)	no assertion criteria provided
Select item 80032141.	NM_002447.4(MST1R):c.1477G>T (p.Asp493Tyr) GRCh37: Chr3:49936371 GRCh38: Chr3:49898938	MST1R	D493Y	Multiple myeloma	Likely pathogenic (Aug 31, 2019)	no assertion criteria provided
Select item 80032042.	NM_016302.4(CRBN):c.1100A>T (p.Asn367Ile) GRCh37: Chr3:3194188 GRCh38: Chr3:3152504	CRBN, TRNT1	N366I, N367I	Multiple myeloma	Likely pathogenic (Aug 31, 2019)	no assertion criteria provided
Select item 80031943.	NM_001378414.1(HDAC4):c.1580C>T (p.Pro527Leu) GRCh37: Chr2:240036960 GRCh38: Chr2:239115264	HDAC4	P522L, P527L	Multiple myeloma	Likely pathogenic (Aug 31, 2019)	no assertion criteria provided
Select item 80031844.	NM_004187.5(KDM5C):c.67G>T (p.Glu23Ter) GRCh37: ChrX:53254005 GRCh38: ChrX:53224823	KDM5C, LOC130068308	E23*	Multiple myeloma	Likely pathogenic (Aug 31, 2019)	no assertion criteria provided
Select item 80031745.	NM_003514.2(H2AC17):c.364G>A (p.Glu122Lys) GRCh37: Chr6:27860564 GRCh38: Chr6:27892786	H2AC17	E122K	Multiple myeloma	Likely pathogenic (Aug 31, 2019)	no assertion criteria provided
Select item 80031646.	NM_001033910.3(TRAF5):c.1254_1257del (p.Glu419fs) GRCh37: Chr1:211545620-211545623 GRCh38: Chr1:211372278-211372281	TRAF5	E419fs, E430fs	Multiple myeloma	Likely pathogenic (Aug 31, 2019)	no assertion criteria provided
Select item 80031547.	NM_170606.3(KMT2C):c.9181C>G (p.Gln3061Glu) GRCh37: Chr7:151873357 GRCh38: Chr7:152176272	KMT2C	Q3061E	Multiple myeloma	Likely pathogenic (Aug 31, 2019)	no assertion criteria provided
Select item 80031448.	NM_001287491.2(TET3):c.2362G>A (p.Glu788Lys) GRCh37: Chr2:74275406 GRCh38: Chr2:74048279	TET3	E788K, E695K	Multiple myeloma	Likely pathogenic (Aug 31, 2019)	no assertion criteria provided
Select item 80031349.	NM_001079668.3(NKX2-1):c.436G>A (p.Ala146Thr) GRCh37: Chr14:36988217 GRCh38: Chr14:36519012	NKX2-1, SFTA3	A116T, A146T	Multiple myeloma	Likely pathogenic (Aug 31, 2019)	no assertion criteria provided
Select item 80031250.	NM_001136139.4(TCF3):c.1693G>A (p.Ala565Thr) GRCh37: Chr19:1612326 GRCh38: Chr19:1612327	TCF3	A565T	Multiple myeloma	Likely pathogenic (Aug 31, 2019)	no assertion criteria provided
Select item 80031151.	NM_002957.6(RXRA):c.671G>A (p.Ser224Asn) GRCh37: Chr9:137309064 GRCh38: Chr9:134417218	RXRA	S127N, S224N, S197N	Multiple myeloma	Likely pathogenic (Aug 31, 2019)	no assertion criteria provided
Select item 80031052.	NM_004380.3(CREBBP):c.5188A>G (p.Ile1730Val) GRCh37: Chr16:3779860 GRCh38: Chr16:3729859	CREBBP	I1692V, I1730V	Multiple myeloma	Likely pathogenic (Aug 31, 2019)	no assertion criteria provided
Select item 80030953.	NM_005245.4(FAT1):c.2668G>A (p.Glu890Lys) GRCh37: Chr4:187628314 GRCh38: Chr4:186707160	FAT1	E890K	Multiple myeloma	Likely pathogenic (Aug 31, 2019)	no assertion criteria provided
Select item 66561154.	NM_206937.2(LIG4):c.712A>G (p.Ile238Val) GRCh37: Chr13:108862905 GRCh38: Chr13:108210557	LIG4	I238V, I250V, I171V	DNA ligase IV deficiency, Multiple myeloma, DNA ligase IV deficiency	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 62613155.	NM_206937.2(LIG4):c.2356G>A (p.Glu786Lys) GRCh37: Chr13:108861261 GRCh38: Chr13:108208913	LIG4	E786K, E719K, E798K	DNA ligase IV deficiency, Multiple myeloma, not provided, DNA ligase IV deficiency	Uncertain significance (Dec 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 57757556.	NM_206937.2(LIG4):c.1882C>T (p.Arg628Trp) GRCh37: Chr13:108861735 GRCh38: Chr13:108209387	LIG4	R628W, R640W, R561W	Multiple myeloma, DNA ligase IV deficiency, DNA ligase IV deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency	Uncertain significance (Apr 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37668657.	NM_000546.6(TP53):c.613T>G (p.Tyr205Asp) GRCh37: Chr17:7578236 GRCh38: Chr17:7674918	TP53	Y166D, Y205D, Y73D, Y46D	not provided, Li-Fraumeni syndrome 1, Li-Fraumeni syndrome	Conflicting interpretations of pathogenicity (Apr 11, 2023)	criteria provided, conflicting interpretations
Select item 37668558.	NM_000546.6(TP53):c.613T>C (p.Tyr205His) GRCh37: Chr17:7578236 GRCh38: Chr17:7674918	TP53	Y166H, Y205H, Y73H, Y46H	Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome	Pathogenic/Likely pathogenic (Jan 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37668459.	NM_000546.6(TP53):c.613T>A (p.Tyr205Asn) GRCh37: Chr17:7578236 GRCh38: Chr17:7674918	TP53	Y166N, Y205N, Y73N, Y46N	Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome, Li-Fraumeni syndrome 1	Conflicting interpretations of pathogenicity (Apr 11, 2023)	criteria provided, conflicting interpretations
Select item 37668360.	NM_000546.6(TP53):c.614A>C (p.Tyr205Ser) GRCh37: Chr17:7578235 GRCh38: Chr17:7674917	TP53	Y166S, Y205S, Y73S, Y46S	Ovarian serous cystadenocarcinoma, Glioblastoma, Malignant neoplasm of body of uterus, Neoplasm of the large intestine, Neoplasm of brain, Multiple myeloma, Non-Hodgkin lymphoma, Lung adenocarcinoma, Papillary renal cell carcinoma type 1, Hepatocellular carcinoma, Squamous cell lung carcinomaSquamous cell carcinoma of the head and neck, Uterine carcinosarcoma, Esophageal carcinoma, Pancreatic adenocarcinoma, Breast neoplasm, ...see more	Likely pathogenic (May 31, 2016)	no assertion criteria provided
Select item 37668261.	NM_000546.6(TP53):c.614A>T (p.Tyr205Phe) GRCh37: Chr17:7578235 GRCh38: Chr17:7674917	TP53	Y166F, Y205F, Y73F, Y46F	Uterine carcinosarcoma, Ovarian serous cystadenocarcinoma, Malignant neoplasm of body of uterus, Glioblastoma, Neoplasm of the large intestine, Neoplasm of brain, Multiple myeloma, Lung adenocarcinoma, Hepatocellular carcinoma, Papillary renal cell carcinoma type 1, Squamous cell lung carcinomaSquamous cell carcinoma of the head and neck, Non-Hodgkin lymphoma, Esophageal carcinoma, Pancreatic adenocarcinoma, Breast neoplasm, ...see more	Likely pathogenic (May 31, 2016)	no assertion criteria provided
Select item 37668162.	NM_000546.6(TP53):c.614A>G (p.Tyr205Cys) GRCh37: Chr17:7578235 GRCh38: Chr17:7674917	TP53	Y166C, Y205C, Y73C, Y46C	Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome	Pathogenic (May 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37667363.	NM_000546.6(TP53):c.815T>A (p.Val272Glu) GRCh37: Chr17:7577123 GRCh38: Chr17:7673805	TP53	V140E, V233E, V272E, V113E	Li-Fraumeni syndrome	Uncertain significance (Aug 12, 2021)	criteria provided, single submitter
Select item 37665664.	NM_000546.6(TP53):c.817C>A (p.Arg273Ser) GRCh37: Chr17:7577121 GRCh38: Chr17:7673803	TP53	R141S, R234S, R273S, R114S	Li-Fraumeni syndrome 1, Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome	Pathogenic (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37665565.	NM_000546.6(TP53):c.818G>T (p.Arg273Leu) GRCh37: Chr17:7577120 GRCh38: Chr17:7673802	TP53	R141L, R234L, R273L, R114L	Li-Fraumeni syndrome 1, Basal cell carcinoma, susceptibility to, 7, Bone marrow failure syndrome 5, Adrenocortical carcinoma, hereditary, Carcinoma of pancreas, Familial cancer of breast, Glioma susceptibility 1, Bone osteosarcoma, Colorectal cancer, Nasopharyngeal carcinoma, Choroid plexus papillomaHepatocellular carcinoma, not provided, Li-Fraumeni syndrome, Li-Fraumeni syndrome 1, Hereditary cancer-predisposing syndrome, ...see more	Pathogenic (Jan 12, 2023)	criteria provided, multiple submitters, no conflicts
Select item 37665266.	NM_000546.6(TP53):c.742C>G (p.Arg248Gly) GRCh37: Chr17:7577539 GRCh38: Chr17:7674221	TP53	R116G, R209G, R248G, R89G	Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome, Carcinoma of colon	Pathogenic/Likely pathogenic (Aug 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37664667.	NM_000546.6(TP53):c.833C>A (p.Pro278His) GRCh37: Chr17:7577105 GRCh38: Chr17:7673787	TP53	P146H, P239H, P278H, P119H	Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome, Li-Fraumeni syndrome 1	Uncertain significance (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37664568.	NM_000546.6(TP53):c.832C>G (p.Pro278Ala) GRCh37: Chr17:7577106 GRCh38: Chr17:7673788	TP53	P146A, P239A, P278A, P119A	Hereditary cancer-predisposing syndrome, not provided, Li-Fraumeni syndrome	Conflicting interpretations of pathogenicity (Aug 16, 2022)	criteria provided, conflicting interpretations
Select item 37664469.	NM_000546.6(TP53):c.833C>G (p.Pro278Arg) GRCh37: Chr17:7577105 GRCh38: Chr17:7673787	TP53	P146R, P239R, P278R, P119R	Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1, Li-Fraumeni syndrome	Conflicting interpretations of pathogenicity (Jul 22, 2022)	criteria provided, conflicting interpretations
Select item 37664370.	NM_000546.6(TP53):c.832C>A (p.Pro278Thr) GRCh37: Chr17:7577106 GRCh38: Chr17:7673788	TP53	P146T, P239T, P278T, P119T	Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome	Pathogenic (Oct 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37664271.	NM_000546.6(TP53):c.832C>T (p.Pro278Ser) GRCh37: Chr17:7577106 GRCh38: Chr17:7673788	TP53	P146S, P239S, P278S, P119S	Hereditary cancer-predisposing syndrome, not provided, Li-Fraumeni syndrome	Conflicting interpretations of pathogenicity (Jan 5, 2023)	criteria provided, conflicting interpretations
Select item 37664172.	NM_000546.6(TP53):c.451C>G (p.Pro151Ala) GRCh37: Chr17:7578479 GRCh38: Chr17:7675161	TP53	P112A, P151A, P19A	Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome	Pathogenic (Apr 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37664073.	NM_000546.6(TP53):c.452C>G (p.Pro151Arg) GRCh37: Chr17:7578478 GRCh38: Chr17:7675160	TP53	P112R, P151R, P19R	Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome	Pathogenic/Likely pathogenic (Nov 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37663974.	NM_000546.6(TP53):c.452C>A (p.Pro151His) GRCh37: Chr17:7578478 GRCh38: Chr17:7675160	TP53	P112H, P151H, P19H	Li-Fraumeni syndrome	Uncertain significance (May 7, 2022)	criteria provided, single submitter
Select item 37662975.	NM_000546.6(TP53):c.395A>T (p.Lys132Met) GRCh37: Chr17:7578535 GRCh38: Chr17:7675217	TP53	K132M, K93M	Li-Fraumeni syndrome	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 37662876.	NM_000546.6(TP53):c.394A>C (p.Lys132Gln) GRCh37: Chr17:7578536 GRCh38: Chr17:7675218	TP53	K132Q, K93Q	Li-Fraumeni syndrome	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 37662777.	NM_000546.6(TP53):c.395A>C (p.Lys132Thr) GRCh37: Chr17:7578535 GRCh38: Chr17:7675217	TP53	K132T, K93T	Uterine carcinosarcoma, Ovarian serous cystadenocarcinoma, Adrenal cortex carcinoma, Neoplasm of the large intestine, Glioblastoma, Esophageal carcinoma, Neoplasm of brain, Multiple myeloma, Squamous cell lung carcinoma, Lung adenocarcinoma, Squamous cell carcinoma of the head and neckNeoplasm of uterine cervix, Gastric adenocarcinoma, Transitional cell carcinoma of the bladder, Pancreatic adenocarcinoma, Breast neoplasm, ...see more	Likely pathogenic (May 31, 2016)	no assertion criteria provided
Select item 37662678.	NM_000546.6(TP53):c.394A>G (p.Lys132Glu) GRCh37: Chr17:7578536 GRCh38: Chr17:7675218	TP53	K132E, K93E	Li-Fraumeni syndrome, Li-Fraumeni syndrome 1, Hereditary cancer-predisposing syndrome	Pathogenic/Likely pathogenic (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37662579.	NM_000546.6(TP53):c.395A>G (p.Lys132Arg) GRCh37: Chr17:7578535 GRCh38: Chr17:7675217	TP53	K132R, K93R	Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome	Pathogenic (Aug 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 37662480.	NM_000546.6(TP53):c.396G>C (p.Lys132Asn) GRCh37: Chr17:7578534 GRCh38: Chr17:7675216	TP53	K132N, K93N	Li-Fraumeni syndrome	Likely pathogenic (Mar 18, 2022)	reviewed by expert panel FDA Recognized Database
Select item 37662081.	NM_000546.6(TP53):c.585C>G (p.Ile195Met) GRCh37: Chr17:7578264 GRCh38: Chr17:7674946	TP53	I156M, I195M, I63M, I36M	Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37661982.	NM_000546.6(TP53):c.584T>G (p.Ile195Ser) GRCh37: Chr17:7578265 GRCh38: Chr17:7674947	TP53	I156S, I195S, I63S, I36S	Hereditary cancer-predisposing syndrome	Uncertain significance (Sep 3, 2019)	criteria provided, single submitter
Select item 37661883.	NM_000546.6(TP53):c.584T>A (p.Ile195Asn) GRCh37: Chr17:7578265 GRCh38: Chr17:7674947	TP53	I156N, I195N, I63N, I36N	Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1, Li-Fraumeni syndrome	Conflicting interpretations of pathogenicity (Jun 18, 2022)	criteria provided, conflicting interpretations
Select item 37661784.	NM_000546.6(TP53):c.583A>T (p.Ile195Phe) GRCh37: Chr17:7578266 GRCh38: Chr17:7674948	TP53	I156F, I195F, I63F, I36F	not provided, Malignant tumor of esophagus, Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome	Conflicting interpretations of pathogenicity (Mar 25, 2023)	criteria provided, conflicting interpretations
Select item 37658985.	NM_000546.6(TP53):c.842A>C (p.Asp281Ala) GRCh37: Chr17:7577096 GRCh38: Chr17:7673778	TP53	D149A, D242A, D281A, D122A	Uterine carcinosarcoma, Ovarian serous cystadenocarcinoma, Malignant neoplasm of body of uterus, Chronic lymphatic leukemia, Neuroblastoma, Multiple myeloma, Malignant melanoma of skin, Hepatocellular carcinoma, Papillary renal cell carcinoma type 1, Squamous cell lung carcinoma, Lung adenocarcinomaSquamous cell carcinoma of the head and neck, Gastric adenocarcinoma, Squamous cell carcinoma of the skin, Transitional cell carcinoma of the bladder, Glioblastoma, Pancreatic adenocarcinoma, Breast neoplasm, ...see more	Likely pathogenic (May 31, 2016)	no assertion criteria provided
Select item 37658886.	NM_000546.6(TP53):c.841G>C (p.Asp281His) GRCh37: Chr17:7577097 GRCh38: Chr17:7673779	TP53	D149H, D242H, D281H, D122H	Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome	Conflicting interpretations of pathogenicity (Sep 13, 2022)	criteria provided, conflicting interpretations
Select item 37658787.	NM_000546.6(TP53):c.843C>G (p.Asp281Glu) GRCh37: Chr17:7577095 GRCh38: Chr17:7673777	TP53	D149E, D242E, D281E, D122E	Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome	Uncertain significance (May 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37658688.	NM_000546.6(TP53):c.841G>A (p.Asp281Asn) GRCh37: Chr17:7577097 GRCh38: Chr17:7673779	TP53	D149N, D242N, D281N, D122N	Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome	Pathogenic (Jun 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37658589.	NM_000546.6(TP53):c.841G>T (p.Asp281Tyr) GRCh37: Chr17:7577097 GRCh38: Chr17:7673779	TP53	D149Y, D242Y, D281Y, D122Y	Li-Fraumeni syndrome	Pathogenic (Mar 6, 2022)	criteria provided, single submitter
Select item 37658490.	NM_000546.6(TP53):c.823T>C (p.Cys275Arg) GRCh37: Chr17:7577115 GRCh38: Chr17:7673797	TP53	C143R, C236R, C275R, C116R	Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome	Conflicting interpretations of pathogenicity (Aug 27, 2022)	criteria provided, conflicting interpretations
Select item 37658391.	NM_000546.6(TP53):c.824G>C (p.Cys275Ser) GRCh37: Chr17:7577114 GRCh38: Chr17:7673796	TP53	C143S, C236S, C275S, C116S	Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome	Conflicting interpretations of pathogenicity (Feb 20, 2022)	criteria provided, conflicting interpretations
Select item 37658292.	NM_000546.6(TP53):c.824G>T (p.Cys275Phe) GRCh37: Chr17:7577114 GRCh38: Chr17:7673796	TP53	C143F, C236F, C275F, C116F	Li-Fraumeni syndrome	Pathogenic (May 14, 2022)	criteria provided, single submitter
Select item 37657793.	NM_000546.6(TP53):c.712T>G (p.Cys238Gly) GRCh37: Chr17:7577569 GRCh38: Chr17:7674251	TP53	C106G, C199G, C238G, C79G	Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome	Pathogenic (Feb 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37657694.	NM_000546.6(TP53):c.712T>C (p.Cys238Arg) GRCh37: Chr17:7577569 GRCh38: Chr17:7674251	TP53	C106R, C199R, C238R, C79R	Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome, Li-Fraumeni syndrome 1	Pathogenic (Apr 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 37657595.	NM_000546.6(TP53):c.713G>C (p.Cys238Ser) GRCh37: Chr17:7577568 GRCh38: Chr17:7674250	TP53	C106S, C199S, C238S, C79S	Hereditary cancer-predisposing syndrome, not provided, Li-Fraumeni syndrome, Li-Fraumeni syndrome 1	Pathogenic/Likely pathogenic (Oct 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37657496.	NM_000546.6(TP53):c.713G>T (p.Cys238Phe) GRCh37: Chr17:7577568 GRCh38: Chr17:7674250	TP53	C106F, C199F, C238F, C79F	Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome	Pathogenic/Likely pathogenic (Feb 20, 2023)	criteria provided, multiple submitters, no conflicts
Select item 37656897.	NM_000546.6(TP53):c.422G>T (p.Cys141Phe) GRCh37: Chr17:7578508 GRCh38: Chr17:7675190	TP53	C102F, C141F, C9F	Li-Fraumeni syndrome, Squamous cell carcinoma of the head and neck	Conflicting interpretations of pathogenicity (Aug 12, 2021)	criteria provided, conflicting interpretations
Select item 37656798.	NM_000546.6(TP53):c.421T>A (p.Cys141Ser) GRCh37: Chr17:7578509 GRCh38: Chr17:7675191	TP53	C102S, C141S, C9S	Prostate adenocarcinoma, Malignant neoplasm of body of uterus, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Breast neoplasm, Neoplasm of brain, Multiple myeloma, Acute myeloid leukemia, Papillary renal cell carcinoma type 1, Lung adenocarcinoma, Squamous cell carcinoma of the head and neckSquamous cell lung carcinoma, ...see more	Likely pathogenic (May 31, 2016)	no assertion criteria provided
Select item 37656699.	NM_000546.6(TP53):c.421T>G (p.Cys141Gly) GRCh37: Chr17:7578509 GRCh38: Chr17:7675191	TP53	C102G, C141G, C9G	Malignant neoplasm of body of uterus, Pancreatic adenocarcinoma, Multiple myeloma, Breast neoplasm, Neoplasm of the large intestine, Prostate adenocarcinoma, Neoplasm of brain, Lung adenocarcinoma, Acute myeloid leukemia, Squamous cell carcinoma of the head and neck, Papillary renal cell carcinoma type 1Squamous cell lung carcinoma, ...see more	Likely pathogenic (May 31, 2016)	no assertion criteria provided
Select item 376565100.	NM_000546.6(TP53):c.421T>C (p.Cys141Arg) GRCh37: Chr17:7578509 GRCh38: Chr17:7675191	TP53	C102R, C141R, C9R	Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations

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