ClinVar for MedGen (Select 181539) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 1 to 100 of 742

<< First< Prev

Page of 8

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 16988701.	NM_000059.4(BRCA2):c.682-8T>A GRCh37: Chr13:32905048 GRCh38: Chr13:32330911	BRCA2		Neoplasm of ovary	Uncertain significance (Sep 30, 2020)	criteria provided, single submitter
Select item 16837752.	NM_000251.3(MSH2):c.883G>T (p.Asp295Tyr) GRCh37: Chr2:47641498 GRCh38: Chr2:47414359	MSH2	D229Y, D295Y	Neoplasm of ovary, Hereditary cancer-predisposing syndrome	Conflicting interpretations of pathogenicity (Jul 7, 2022)	criteria provided, conflicting interpretations
Select item 15998233.	NM_001904.4(CTNNB1):c.1683+17A>G GRCh37: Chr3:41275805 GRCh38: Chr3:41234314	CTNNB1, LOC126806659		Pilomatrixoma, Exudative vitreoretinopathy 7, Neoplasm of ovary, Colorectal cancer, Medulloblastoma, Severe intellectual disability-progressive spastic diplegia syndrome, Hepatocellular carcinoma, not provided	Benign/Likely benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14039214.	NM_001904.4(CTNNB1):c.1571A>G (p.His524Arg) GRCh37: Chr3:41275676 GRCh38: Chr3:41234185	CTNNB1, LOC126806659	H517R, H524R	not provided, Severe intellectual disability-progressive spastic diplegia syndrome, Hepatocellular carcinoma, Colorectal cancer, Pilomatrixoma, Exudative vitreoretinopathy 7, Neoplasm of ovary, Medulloblastoma	Uncertain significance (Nov 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 14022375.	NM_004562.3(PRKN):c.551A>T (p.Asp184Val) GRCh37: Chr6:162475190 GRCh38: Chr6:162054158	PRKN	D184V	Lung cancer, Neoplasm of ovary, Autosomal recessive juvenile Parkinson disease 2, not provided	Uncertain significance (Sep 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 13356546.	NM_004562.3(PRKN):c.73C>T (p.Gln25Ter) GRCh37: Chr6:162864440 GRCh38: Chr6:162443408	PRKN	Q25*	Autosomal recessive juvenile Parkinson disease 2, Neoplasm of ovary, Lung cancer, not provided	Pathogenic/Likely pathogenic (May 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12596807.	NM_004562.3(PRKN):c.172-38dup GRCh37: Chr6:162683814-162683815 GRCh38: Chr6:162262782-162262783	PRKN		not provided, Lung cancer, Autosomal recessive juvenile Parkinson disease 2, Neoplasm of ovary	Benign (Sep 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12157328.	NM_004360.5(CDH1):c.1492G>A (p.Asp498Asn) GRCh37: Chr16:68849589 GRCh38: Chr16:68815686	CDH1	D437N, D498N	not provided, Familial cancer of breast, Blepharocheilodontic syndrome 1, Endometrial carcinoma, Hereditary diffuse gastric adenocarcinoma, Neoplasm of ovary, Malignant tumor of prostate, Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma	Uncertain significance (Mar 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11740159.	NM_007294.4(BRCA1):c.1195_1196del (p.Ser398_His399insTer) GRCh37: Chr17:41246352-41246353 GRCh38: Chr17:43094335-43094336	BRCA1		Familial cancer of breast, Neoplasm of ovary	Pathogenic (Mar 19, 2021)	no assertion criteria provided
Select item 117401310.	Single allele GRCh37: Chr11:108098332-108236255	ATM		Acquired polycythemia vera, Endometrial serous adenocarcinoma, Neoplasm of ovary	Pathogenic (Mar 19, 2021)	no assertion criteria provided
Select item 117401211.	NM_000546.6(TP53):c.811G>T (p.Glu271Ter) GRCh37: Chr17:7577127 GRCh38: Chr17:7673809	TP53	E112, E139, E232, E271	Hereditary cancer-predisposing syndrome	Pathogenic (Aug 1, 2022)	criteria provided, single submitter
Select item 113040712.	NM_004562.3(PRKN):c.219G>A (p.Pro73=) GRCh37: Chr6:162683750 GRCh38: Chr6:162262718	PRKN		Neoplasm of ovary, Lung cancer, Autosomal recessive juvenile Parkinson disease 2, not provided	Likely benign (Apr 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105229713.	NM_000546.6(TP53):c.1118del (p.Lys373fs) GRCh37: Chr17:7572991 GRCh38: Chr17:7669673	TP53	K214fs, K241fs, K334fs, K373fs	Li-Fraumeni syndrome	Uncertain significance (May 13, 2021)	criteria provided, single submitter
Select item 98942914.	NM_002878.4(RAD51D):c.574C>T (p.Gln192Ter) GRCh37: Chr17:33433407 GRCh38: Chr17:35106388	RAD51D, RAD51L3-RFFL	Q192, Q212, Q80*	Hereditary cancer-predisposing syndrome	Pathogenic (Nov 10, 2020)	criteria provided, single submitter
Select item 98441915.	NM_007294.3(BRCA1):c.(5467+1_5468-1)_(*1_?)del	BRCA1		Neoplasm of ovary	Pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 98441816.	NM_007294.3(BRCA1):c.(441+1_442-1)_(547+1_548-1)del	BRCA1		Neoplasm of ovary	Pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 95177017.	NM_024675.4(PALB2):c.998C>A (p.Thr333Asn) GRCh37: Chr16:23646869 GRCh38: Chr16:23635548	PALB2	T333N	Neoplasm of ovary, Familial cancer of breast	Uncertain significance (Oct 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 94699318.	NM_004562.3(PRKN):c.353G>C (p.Gly118Ala) GRCh37: Chr6:162683616 GRCh38: Chr6:162262584	PRKN	G118A	not provided, Neoplasm of ovary, Lung cancer, Autosomal recessive juvenile Parkinson disease 2	Uncertain significance (Feb 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 92979319.	NM_058216.3(RAD51C):c.571+64C>A GRCh37: Chr17:56774284 GRCh38: Chr17:58696923	RAD51C		Neoplasm of ovary	Uncertain significance (Jan 29, 2012)	no assertion criteria provided
Select item 90716520.	NM_004562.3(PRKN):c.*121A>C GRCh37: Chr6:161771010 GRCh38: Chr6:161349978	PRKN		Lung cancer, Autosomal recessive juvenile Parkinson disease 2, Neoplasm of ovary, Autosomal recessive juvenile Parkinson disease 2	Uncertain significance (Nov 18, 2021)	criteria provided, multiple submitters, no conflicts
Select item 90716421.	NM_004562.3(PRKN):c.*140A>G GRCh37: Chr6:161770991 GRCh38: Chr6:161349959	PRKN		Lung cancer, Autosomal recessive juvenile Parkinson disease 2, Neoplasm of ovary, Autosomal recessive juvenile Parkinson disease 2	Uncertain significance (Sep 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 90388622.	NM_004562.3(PRKN):c.247A>G (p.Thr83Ala) GRCh37: Chr6:162683722 GRCh38: Chr6:162262690	PRKN	T83A	Neoplasm of ovary, Autosomal recessive juvenile Parkinson disease 2, Lung cancer, not provided, Autosomal recessive juvenile Parkinson disease 2	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 84695723.	NM_004562.3(PRKN):c.337_376del (p.Pro113fs) GRCh37: Chr6:162683593-162683632 GRCh38: Chr6:162262561-162262600	PRKN	P113fs	Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2, Neoplasm of ovary, Lung cancer, not provided	Pathogenic/Likely pathogenic (Mar 22, 2023)	criteria provided, multiple submitters, no conflicts
Select item 83531124.	NM_058216.3(RAD51C):c.68_72dup (p.Val25fs) GRCh37: Chr17:56770067-56770068 GRCh38: Chr17:58692706-58692707	RAD51C	V25fs	Fanconi anemia complementation group O	Pathogenic (Jan 12, 2022)	criteria provided, single submitter
Select item 73121225.	NM_001904.4(CTNNB1):c.1155C>A (p.Leu385=) GRCh37: Chr3:41274905 GRCh38: Chr3:41233414	CTNNB1		not provided, Neoplasm of ovary, Colorectal cancer, Pilomatrixoma, Exudative vitreoretinopathy 7, Severe intellectual disability-progressive spastic diplegia syndrome, Medulloblastoma, Hepatocellular carcinoma	Benign/Likely benign (Oct 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69753226.	NM_004562.3(PRKN):c.276G>A (p.Ala92=) GRCh37: Chr6:162683693 GRCh38: Chr6:162262661	PRKN		not provided, Autosomal recessive juvenile Parkinson disease 2, Neoplasm of ovary, Lung cancer	Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69648527.	NM_004562.3(PRKN):c.714C>T (p.Cys238=) GRCh37: Chr6:162394354 GRCh38: Chr6:161973322	PRKN		not provided, Autosomal recessive juvenile Parkinson disease 2, Neoplasm of ovary, Lung cancer	Benign/Likely benign (Aug 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69616128.	NM_004562.3(PRKN):c.837C>T (p.His279=) GRCh37: Chr6:162206838 GRCh38: Chr6:161785806	PRKN		Autosomal recessive juvenile Parkinson disease 2, Neoplasm of ovary, Lung cancer, not provided	Likely benign (Jun 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 64951129.	NM_004562.3(PRKN):c.799T>C (p.Tyr267His) GRCh37: Chr6:162206876 GRCh38: Chr6:161785844	PRKN	Y239H, Y118H, Y267H	Lung cancer, Neoplasm of ovary, Autosomal recessive juvenile Parkinson disease 2, not provided	Uncertain significance (Dec 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 63480930.	NM_007294.4(BRCA1):c.3751_3769del (p.Cys1251fs) GRCh37: Chr17:41243779-41243797 GRCh38: Chr17:43091762-43091780	BRCA1, LOC126862571	C1204fs, C1251fs, C1123fs, C1139fs, C1162fs, C1183fs, C1225fs, C1083fs, C1181fs, C1210fs, C1124fs, C1163fs, C1184fs, C1203fs, C1209fs, C1250fs, C955fs, C1140fs, C1180fs, C1224fs, C1248fs, C383fs	Neoplasm of ovary	Pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 63480831.	NM_000059.4(BRCA2):c.201_219del (p.Arg67fs) GRCh37: Chr13:32893345-32893363 GRCh38: Chr13:32319208-32319226	BRCA2	R67fs	Neoplasm of ovary	Pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 63480532.	NM_000059.4(BRCA2):c.3202_3245del (p.Val1068fs) GRCh37: Chr13:32911694-32911737 GRCh38: Chr13:32337557-32337600	BRCA2	V1068fs	Neoplasm of ovary	Pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 63480333.	NM_007294.4(BRCA1):c.1855del (p.His619fs) GRCh37: Chr17:41245693 GRCh38: Chr17:43093676	BRCA1	H619fs, H572fs, H451fs, H549fs, H571fs, H592fs, H593fs, H492fs, H507fs, H508fs, H552fs, H578fs, H323fs, H530fs, H531fs, H551fs, H577fs, H616fs, H618fs, H491fs, H548fs	Neoplasm of ovary	Pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 63480034.	NM_000179.3(MSH6):c.575_583del (p.Glu192_Ala194del) GRCh37: Chr2:48023149-48023157 GRCh38: Chr2:47796010-47796018	MSH6		Neoplasm of ovary	Likely pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 63479935.	NM_005921.2(MAP3K1):c.1408del (p.His470fs) GRCh37: Chr5:56167842 GRCh38: Chr5:56872015	MAP3K1	H470fs	Neoplasm of ovary	Pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 63479836.	NM_000314.8(PTEN):c.460_461dup (p.Tyr155fs) GRCh37: Chr10:89692974-89692975 GRCh38: Chr10:87933217-87933218	PTEN	Y155fs, Y328fs	Neoplasm of ovary	Pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 63479437.	NM_000179.3(MSH6):c.2101_2102insC (p.Leu701fs) GRCh37: Chr2:48027223-48027224 GRCh38: Chr2:47800084-47800085	MSH6	L571fs, L399fs, L701fs	Neoplasm of ovary	Pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 63479338.	NM_032043.3(BRIP1):c.2379G>T (p.Gln793His) GRCh37: Chr17:59820374 GRCh38: Chr17:61743013	BRIP1	Q793H	Neoplasm of ovary	Likely pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 63479239.	NM_000059.4(BRCA2):c.4895_4938del (p.Ser1632fs) GRCh37: Chr13:32913385-32913428 GRCh38: Chr13:32339248-32339291	BRCA2	S1632fs	Neoplasm of ovary	Pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 63479040.	NM_000314.8(PTEN):c.102del (p.Met35fs) GRCh37: Chr10:89653804 GRCh38: Chr10:87894047	PTEN	M35fs, M208fs	Neoplasm of ovary	Pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 63478941.	NM_000546.6(TP53):c.450_452delinsT (p.Pro152fs) GRCh37: Chr17:7578478-7578480 GRCh38: Chr17:7675160-7675162	TP53	P20fs, P113fs, P152fs	Neoplasm of ovary	Pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 63478842.	NM_000546.6(TP53):c.759del (p.Ile254fs) GRCh37: Chr17:7577522 GRCh38: Chr17:7674204	TP53	I122fs, I254fs, I215fs, I95fs	Neoplasm of ovary	Pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 63478743.	NM_000546.6(TP53):c.933del (p.Asn311fs) GRCh37: Chr17:7576913 GRCh38: Chr17:7673595	TP53	N179fs, N311fs, N152fs, N272fs	Neoplasm of ovary	Pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 63478644.	NM_000546.6(TP53):c.97-2del GRCh37: Chr17:7579592 GRCh38: Chr17:7676274	TP53		Neoplasm of ovary	Likely pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 63478545.	NM_000546.6(TP53):c.437G>A (p.Trp146Ter) GRCh37: Chr17:7578493 GRCh38: Chr17:7675175	TP53	W107, W14, W146*	Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome, Li-Fraumeni syndrome 1	Pathogenic (Sep 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 63478446.	NM_000546.6(TP53):c.326T>G (p.Phe109Cys) GRCh37: Chr17:7579361 GRCh38: Chr17:7676043	TP53	F109C, F70C	Neoplasm of ovary	Likely pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 63478347.	NM_000546.6(TP53):c.980_981del (p.Tyr327fs) GRCh37: Chr17:7576865-7576866 GRCh38: Chr17:7673547-7673548	TP53	Y168fs, Y195fs, Y327fs, Y288fs	Neoplasm of ovary	Pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 63478248.	NM_000546.6(TP53):c.908_909insGGGG (p.Ser303fs) GRCh37: Chr17:7577029-7577030 GRCh38: Chr17:7673711-7673712	TP53	S171fs, S303fs, S264fs, S144fs	Neoplasm of ovary	Pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 63478149.	NM_000546.6(TP53):c.996_997del (p.Ile332fs) GRCh37: Chr17:7574030-7574031 GRCh38: Chr17:7670712-7670713	TP53	I293fs, I173fs, I200fs, I332fs	Neoplasm of ovary	Pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 63478050.	NM_000546.6(TP53):c.994-22_1003del GRCh37: Chr17:7574024-7574055 GRCh38: Chr17:7670706-7670737	TP53		Neoplasm of ovary	Likely pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 63477951.	NM_000546.6(TP53):c.455del (p.Pro152fs) GRCh37: Chr17:7578475 GRCh38: Chr17:7675157	TP53	P152fs, P20fs, P113fs	Li-Fraumeni syndrome	Pathogenic (Oct 10, 2021)	criteria provided, single submitter
Select item 63477852.	NM_000546.6(TP53):c.808T>C (p.Phe270Leu) GRCh37: Chr17:7577130 GRCh38: Chr17:7673812	TP53	F138L, F231L, F270L, F111L	Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome	Conflicting interpretations of pathogenicity (Jul 6, 2022)	criteria provided, conflicting interpretations
Select item 63477753.	NM_000546.6(TP53):c.375+5G>T GRCh37: Chr17:7579307 GRCh38: Chr17:7675989	TP53		Neoplasm of ovary	Likely pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 63477654.	NM_000546.6(TP53):c.797del (p.Gly266fs) GRCh37: Chr17:7577141 GRCh38: Chr17:7673823	TP53	G266fs, G134fs, G227fs, G107fs	Neoplasm of ovary	Pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 63477555.	NM_000546.6(TP53):c.545del (p.Cys182fs) GRCh37: Chr17:7578385 GRCh38: Chr17:7675067	TP53	C50fs, C23fs, C182fs, C143fs	Neoplasm of ovary	Pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 63477456.	NM_000546.6(TP53):c.660T>A (p.Tyr220Ter) GRCh37: Chr17:7578189 GRCh38: Chr17:7674871	TP53	Y181, Y220, Y88, Y61	Neoplasm of ovary	Pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 63477357.	NM_000546.6(TP53):c.396G>T (p.Lys132Asn) GRCh37: Chr17:7578534 GRCh38: Chr17:7675216	TP53	K132N, K93N	not provided, Li-Fraumeni syndrome	Pathogenic/Likely pathogenic (Jun 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63477258.	NM_000546.6(TP53):c.714dup (p.Asn239Ter) GRCh37: Chr17:7577566-7577567 GRCh38: Chr17:7674248-7674249	TP53	N80, N200, N107, N239	Li-Fraumeni syndrome	Pathogenic (Jun 18, 2021)	criteria provided, single submitter
Select item 63477159.	NM_000546.6(TP53):c.511G>T (p.Glu171Ter) GRCh37: Chr17:7578419 GRCh38: Chr17:7675101	TP53	E132, E171, E39, E12	Li-Fraumeni syndrome	Pathogenic (Dec 16, 2018)	criteria provided, single submitter
Select item 63477060.	NM_000546.6(TP53):c.711G>T (p.Met237Ile) GRCh37: Chr17:7577570 GRCh38: Chr17:7674252	TP53	M105I, M198I, M237I, M78I	Hereditary cancer-predisposing syndrome	Likely pathogenic (Jan 14, 2020)	criteria provided, single submitter
Select item 63476961.	NM_000546.6(TP53):c.560-1G>A GRCh37: Chr17:7578290 GRCh38: Chr17:7674972	TP53		Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome	Pathogenic (Nov 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63476862.	NM_000546.6(TP53):c.467G>C (p.Arg156Pro) GRCh37: Chr17:7578463 GRCh38: Chr17:7675145	TP53	R117P, R156P, R24P	Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome	Uncertain significance (Sep 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63476763.	NM_000546.6(TP53):c.937_946del (p.Ser313fs) GRCh37: Chr17:7576900-7576909 GRCh38: Chr17:7673582-7673591	TP53	S181fs, S274fs, S154fs, S313fs	Neoplasm of ovary	Pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 63476664.	NM_000546.6(TP53):c.993+1G>T GRCh37: Chr17:7576852 GRCh38: Chr17:7673534	TP53		Li-Fraumeni syndrome	Pathogenic (Aug 9, 2022)	criteria provided, single submitter
Select item 63476565.	NM_000546.6(TP53):c.551del (p.Asp184fs) GRCh37: Chr17:7578379 GRCh38: Chr17:7675061	TP53	D184fs, D52fs, D145fs, D25fs	Neoplasm of ovary	Pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 63476466.	NM_000546.6(TP53):c.609_610delinsCT (p.Glu204Ter) GRCh37: Chr17:7578239-7578240 GRCh38: Chr17:7674921-7674922	TP53	E204, E45, E72, E165	Neoplasm of ovary	Pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 63476367.	NM_000546.6(TP53):c.888_892del (p.His296fs) GRCh37: Chr17:7577046-7577050 GRCh38: Chr17:7673728-7673732	TP53	H257fs, H137fs, H164fs, H296fs	Neoplasm of ovary	Pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 63476268.	NM_000546.6(TP53):c.267dup (p.Ser90fs) GRCh37: Chr17:7579419-7579420 GRCh38: Chr17:7676101-7676102	TP53	S51fs, S90fs	Neoplasm of ovary	Pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 63476169.	NM_000546.6(TP53):c.646GTG[2] (p.Val218del) GRCh37: Chr17:7578195-7578197 GRCh38: Chr17:7674877-7674879	TP53	V59del, V218del, V86del, V179del	Neoplasm of ovary	Pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 63476070.	NM_000546.6(TP53):c.471_474del (p.Arg158fs) GRCh37: Chr17:7578456-7578459 GRCh38: Chr17:7675138-7675141	TP53	R158fs, R26fs, R119fs	Neoplasm of ovary	Pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 63475971.	NM_000546.6(TP53):c.526_528delinsCGG (p.Cys176Arg) GRCh37: Chr17:7578402-7578404 GRCh38: Chr17:7675084-7675086	TP53	C17R, C44R, C137R, C176R	Neoplasm of ovary	Likely pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 63475872.	NM_000546.6(TP53):c.246_253del (p.Ala83fs) GRCh37: Chr17:7579434-7579441 GRCh38: Chr17:7676116-7676123	TP53	A83fs, A44fs	Neoplasm of ovary	Pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 63475773.	NM_000546.6(TP53):c.590T>A (p.Val197Glu) GRCh37: Chr17:7578259 GRCh38: Chr17:7674941	TP53	V158E, V197E, V65E, V38E	Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 63475674.	NM_000546.6(TP53):c.695T>G (p.Ile232Ser) GRCh37: Chr17:7577586 GRCh38: Chr17:7674268	TP53	I100S, I193S, I232S, I73S	Hereditary cancer-predisposing syndrome	Pathogenic (Mar 28, 2022)	criteria provided, single submitter
Select item 63475575.	NM_000546.6(TP53):c.856G>T (p.Glu286Ter) GRCh37: Chr17:7577082 GRCh38: Chr17:7673764	TP53	E154, E247, E286, E127	Li-Fraumeni syndrome	Pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 63475476.	NM_000546.6(TP53):c.661G>T (p.Glu221Ter) GRCh37: Chr17:7578188 GRCh38: Chr17:7674870	TP53	E182, E221, E89, E62	Li-Fraumeni syndrome	Pathogenic (Jul 26, 2018)	criteria provided, single submitter
Select item 63475377.	NM_000546.6(TP53):c.341T>A (p.Leu114Ter) GRCh37: Chr17:7579346 GRCh38: Chr17:7676028	TP53	L114, L75	Neoplasm of ovary	Pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 63475278.	NM_000546.6(TP53):c.672+1del GRCh37: Chr17:7578176 GRCh38: Chr17:7674858	TP53		Neoplasm of ovary	Pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 63475179.	NM_000546.6(TP53):c.1027_1034del (p.Arg342_Glu343insTer) GRCh37: Chr17:7573993-7574000 GRCh38: Chr17:7670675-7670682	TP53		Neoplasm of ovary	Pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 63475080.	NM_000546.6(TP53):c.260_270del (p.Pro87fs) GRCh37: Chr17:7579417-7579427 GRCh38: Chr17:7676099-7676109	TP53	P87fs, P48fs	Neoplasm of ovary	Pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 63474981.	NM_000546.6(TP53):c.810del (p.Phe270fs) GRCh37: Chr17:7577128 GRCh38: Chr17:7673810	TP53	F138fs, F231fs, F111fs, F270fs	Neoplasm of ovary	Pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 63474882.	NM_000546.6(TP53):c.224dup (p.Ala76fs) GRCh37: Chr17:7579462-7579463 GRCh38: Chr17:7676144-7676145	TP53	A37fs, A76fs	Neoplasm of ovary	Pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 63474783.	NM_000546.6(TP53):c.840A>C (p.Arg280Ser) GRCh37: Chr17:7577098 GRCh38: Chr17:7673780	TP53	R148S, R241S, R280S, R121S	Hereditary cancer-predisposing syndrome	Uncertain significance (May 11, 2020)	criteria provided, single submitter
Select item 63474684.	NM_058216.3(RAD51C):c.1026+1G>C GRCh37: Chr17:56809906 GRCh38: Chr17:58732545	RAD51C		Neoplasm of ovary	Likely pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 63474585.	NM_000251.3(MSH2):c.2267_2268insGTAG (p.Thr756_Tyr757insTer) GRCh37: Chr2:47705467-47705468 GRCh38: Chr2:47478328-47478329	MSH2		Hereditary cancer-predisposing syndrome	Pathogenic (Oct 8, 2020)	criteria provided, single submitter
Select item 63474086.	NM_007294.4(BRCA1):c.4093T>G (p.Leu1365Val) GRCh37: Chr17:41243455 GRCh38: Chr17:43091438	LOC126862571, BRCA1	L1365V, L1318V, L1277V, L1297V, L1338V, L1069V, L1237V, L1253V, L1294V, L1323V, L497V, L1254V, L1298V, L1324V, L1362V, L1197V, L1238V, L1276V, L1295V, L1317V, L1339V, L1364V	Hereditary cancer-predisposing syndrome	Conflicting interpretations of pathogenicity (Mar 23, 2023)	criteria provided, conflicting interpretations
Select item 63473987.	NM_007294.4(BRCA1):c.1902dup (p.Asn635Ter) GRCh37: Chr17:41245645-41245646 GRCh38: Chr17:43093628-43093629	BRCA1	N588, N635, N339, N467, N507, N508, N594, N608, N609, N634, N546, N564, N567, N587, N523, N565, N568, N593, N632, N524, N547*	Neoplasm of ovary	Pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 63473888.	NM_007294.3:c.(?_-233)_(134+1_135-1)del	BRCA1		Neoplasm of ovary	Pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 63473789.	NM_007294.3(BRCA1):c.(134+1_135-1)_(547+1_548-1)del	BRCA1		Neoplasm of ovary	Pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 63473690.	NM_007294.3(BRCA1):c.(80+1_81-1)_(5193+1_5194-1)del	BRCA1		Neoplasm of ovary	Pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 63473591.	NM_007294.4(BRCA1):c.346G>T (p.Glu116Ter) GRCh37: Chr17:41256234 GRCh38: Chr17:43104217	BRCA1	E116, E69, E46, E72, E90, E113	Neoplasm of ovary	Pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 63473492.	NM_000179.3(MSH6):c.1491_1519del (p.Lys498fs) GRCh37: Chr2:48026613-48026641 GRCh38: Chr2:47799474-47799502	MSH6	K196fs, K498fs, K368fs	Neoplasm of ovary	Pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 63473393.	NM_000314.8(PTEN):c.1034_1050del (p.Leu345fs) GRCh37: Chr10:89725051-89725067 GRCh38: Chr10:87965294-87965310	PTEN	L148fs, L345fs, L518fs	Neoplasm of ovary	Pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 63473294.	NM_000465.4(BARD1):c.1314G>T (p.Lys438Asn) GRCh37: Chr2:215645284 GRCh38: Chr2:214780560	BARD1	K438N, K419N	Neoplasm of ovary	Likely pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 63473095.	NM_007294.4(BRCA1):c.1271_1301dup (p.Ser434fs) GRCh37: Chr17:41246246-41246247 GRCh38: Chr17:43094229-43094230	BRCA1	S434fs, S387fs, S307fs, S323fs, S346fs, S392fs, S407fs, S408fs, S138fs, S363fs, S366fs, S367fs, S364fs, S386fs, S431fs, S266fs, S306fs, S322fs, S345fs, S393fs, S433fs	Neoplasm of ovary	Pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 63472996.	NM_002878.4(RAD51D):c.345+1G>A GRCh37: Chr17:33434384 GRCh38: Chr17:35107365	RAD51D, RAD51L3-RFFL		Neoplasm of ovary	Likely pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 63472797.	NM_005921.2(MAP3K1):c.2512_2523del (p.Leu838_Leu841del) GRCh37: Chr5:56177536-56177547 GRCh38: Chr5:56881709-56881720	MAP3K1		Neoplasm of ovary	Likely pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 63472598.	NM_000179.3(MSH6):c.2836G>T (p.Glu946Ter) GRCh37: Chr2:48027958 GRCh38: Chr2:47800819	MSH6	E946, E816, E644*	Hereditary cancer-predisposing syndrome	Pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 63472499.	NM_000059.4(BRCA2):c.9648+2T>C GRCh37: Chr13:32971183 GRCh38: Chr13:32397046	BRCA2		Neoplasm of ovary	Likely pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 634723100.	NM_007294.4(BRCA1):c.3096del (p.Glu1033fs) GRCh37: Chr17:41244452 GRCh38: Chr17:43092435	BRCA1	E986fs, E1033fs, E1006fs, E906fs, E965fs, E966fs, E944fs, E962fs, E1032fs, E737fs, E905fs, E921fs, E963fs, E985fs, E1007fs, E1030fs, E865fs, E922fs, E945fs, E991fs, E992fs	Neoplasm of ovary	Pathogenic (Dec 1, 2018)	no assertion criteria provided

<< First< Prev

Page of 8