ClinVar for MedGen (Select 181539) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1698870	NM_000059.4(BRCA2):c.682-8T>A	BRCA2	Single nucleotide variant (intron variant)	Neoplasm of ovary	GUncertain significance
Select item 1683775	NM_000251.3(MSH2):c.883G>T (p.Asp295Tyr)	MSH2 (D229Y +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1599823	NM_001904.4(CTNNB1):c.1683+17A>G	CTNNB1, LOC126806659	Single nucleotide variant (intron variant)	not provided +7 more	GBenign/Likely benign
Select item 1403921	NM_001904.4(CTNNB1):c.1571A>G (p.His524Arg)	CTNNB1, LOC126806659 (H517R +1 more)	Single nucleotide variant (missense variant)	Medulloblastoma +7 more	GUncertain significance
Select item 1402237	NM_004562.3(PRKN):c.551A>T (p.Asp184Val)	PRKN (D184V)	Single nucleotide variant (missense variant +1 more)	Lung cancer +3 more	GUncertain significance
Select item 1335654	NM_004562.3(PRKN):c.73C>T (p.Gln25Ter)	PRKN (Q25*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1259680	NM_004562.3(PRKN):c.172-38dup	PRKN	Duplication (intron variant)	Autosomal recessive juvenile Parkinson disease 2 +3 more	GBenign
Select item 1215732	NM_004360.5(CDH1):c.1492G>A (p.Asp498Asn)	CDH1 (D437N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +7 more	GUncertain significance
Select item 1174015	NM_007294.4(BRCA1):c.1195_1196del (p.Ser398_His399insTer)	BRCA1	Microsatellite (nonsense +1 more)	Familial cancer of breast +1 more	GPathogenic
Select item 1174013	Single allele	ATM	Deletion	Endometrial serous adenocarcinoma +2 more	GPathogenic
Select item 1174012	NM_000546.6(TP53):c.811G>T (p.Glu271Ter)	TP53 (E112* +3 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1130407	NM_004562.3(PRKN):c.219G>A (p.Pro73=)	PRKN	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive juvenile Parkinson disease 2 +3 more	GLikely benign
Select item 1052297	NM_000546.6(TP53):c.1118del (p.Lys373fs)	TP53 (K214fs +3 more)	Deletion (frameshift variant +1 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 989429	NM_002878.4(RAD51D):c.574C>T (p.Gln192Ter)	RAD51D, RAD51L3-RFFL (Q192* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 984419	NM_007294.3(BRCA1):c.(5467+1_5468-1)_(*1_?)del	BRCA1	Deletion	Neoplasm of ovary	GPathogenic
Select item 984418	NM_007294.3(BRCA1):c.(441+1_442-1)_(547+1_548-1)del	BRCA1	Deletion	Neoplasm of ovary	GPathogenic
Select item 951770	NM_024675.4(PALB2):c.998C>A (p.Thr333Asn)	PALB2 (T333N)	Single nucleotide variant (missense variant)	Neoplasm of ovary +1 more	GUncertain significance
Select item 946993	NM_004562.3(PRKN):c.353G>C (p.Gly118Ala)	PRKN (G118A)	Single nucleotide variant (missense variant +1 more)	Lung cancer +3 more	GUncertain significance
Select item 929793	NM_058216.3(RAD51C):c.571+64C>A	RAD51C	Single nucleotide variant (intron variant)	Hereditary cancer	GLikely benign
Select item 907165	NM_004562.3(PRKN):c.*121A>C	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2 +2 more	GUncertain significance
Select item 907164	NM_004562.3(PRKN):c.*140A>G	PRKN	Single nucleotide variant (3 prime UTR variant)	Lung cancer +2 more	GUncertain significance
Select item 903886	NM_004562.3(PRKN):c.247A>G (p.Thr83Ala)	PRKN (T83A)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive juvenile Parkinson disease 2 +3 more	GUncertain significance
Select item 846957	NM_004562.3(PRKN):c.337_376del (p.Pro113fs)	PRKN (P113fs)	Deletion (frameshift variant +1 more)	Neoplasm of ovary +3 more	GPathogenic/Likely pathogenic
Select item 835311	NM_058216.3(RAD51C):c.68_72dup (p.Val25fs)	RAD51C (V25fs)	Duplication (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3 +1 more	GPathogenic
Select item 731212	NM_001904.4(CTNNB1):c.1155C>A (p.Leu385=)	CTNNB1	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign/Likely benign
Select item 697532	NM_004562.3(PRKN):c.276G>A (p.Ala92=)	PRKN	Single nucleotide variant (synonymous variant +1 more)	Neoplasm of ovary +3 more	GLikely benign
Select item 696485	NM_004562.3(PRKN):c.714C>T (p.Cys238=)	PRKN	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 696161	NM_004562.3(PRKN):c.837C>T (p.His279=)	PRKN	Single nucleotide variant (synonymous variant)	Autosomal recessive juvenile Parkinson disease 2 +3 more	GLikely benign
Select item 649511	NM_004562.3(PRKN):c.799T>C (p.Tyr267His)	PRKN (Y239H +2 more)	Single nucleotide variant (missense variant)	Lung cancer +3 more	GUncertain significance
Select item 634809	NM_007294.4(BRCA1):c.3751_3769del (p.Cys1251fs)	BRCA1, LOC126862571 (C1204fs +21 more)	Deletion (frameshift variant +1 more)	Neoplasm of ovary	GPathogenic
Select item 634808	NM_000059.4(BRCA2):c.201_219del (p.Arg67fs)	BRCA2 (R67fs)	Deletion (frameshift variant)	Neoplasm of ovary	GPathogenic
Select item 634805	NM_000059.4(BRCA2):c.3202_3245del (p.Val1068fs)	BRCA2 (V1068fs)	Deletion (frameshift variant)	Neoplasm of ovary	GPathogenic
Select item 634803	NM_007294.4(BRCA1):c.1855del (p.His619fs)	BRCA1 (H619fs +20 more)	Deletion (frameshift variant +1 more)	Neoplasm of ovary	GPathogenic
Select item 634800	NM_000179.3(MSH6):c.575_583del (p.Glu192_Ala194del)	MSH6	Deletion (inframe_deletion +2 more)	Neoplasm of ovary	GLikely pathogenic
Select item 634799	NM_005921.2(MAP3K1):c.1408del (p.His470fs)	MAP3K1 (H470fs)	Deletion (frameshift variant)	Neoplasm of ovary	GPathogenic
Select item 634798	NM_000314.8(PTEN):c.460_461dup (p.Tyr155fs)	PTEN (Y155fs +1 more)	Duplication (frameshift variant +1 more)	Neoplasm of ovary	GPathogenic
Select item 634794	NM_000179.3(MSH6):c.2101_2102insC (p.Leu701fs)	MSH6 (L571fs +2 more)	Insertion (frameshift variant)	Neoplasm of ovary	GPathogenic
Select item 634793	NM_032043.3(BRIP1):c.2379G>T (p.Gln793His)	BRIP1 (Q793H)	Single nucleotide variant (missense variant)	Neoplasm of ovary	GLikely pathogenic
Select item 634792	NM_000059.4(BRCA2):c.4895_4938del (p.Ser1632fs)	BRCA2 (S1632fs)	Deletion (frameshift variant)	Neoplasm of ovary	GPathogenic
Select item 634790	NM_000314.8(PTEN):c.102del (p.Met35fs)	PTEN (M35fs +1 more)	Deletion (5 prime UTR variant +1 more)	Neoplasm of ovary	GPathogenic
Select item 634789	NM_000546.6(TP53):c.450_452delinsT (p.Pro152fs)	TP53 (P20fs +2 more)	Indel (frameshift variant +1 more)	Neoplasm of ovary	GPathogenic
Select item 634788	NM_000546.6(TP53):c.759del (p.Ile254fs)	TP53 (I122fs +3 more)	Deletion (frameshift variant)	Neoplasm of ovary	GPathogenic
Select item 634787	NM_000546.6(TP53):c.933del (p.Asn311fs)	TP53 (N179fs +3 more)	Deletion (frameshift variant)	Neoplasm of ovary	GPathogenic
Select item 634786	NM_000546.6(TP53):c.97-2del	TP53	Deletion (splice acceptor variant)	Neoplasm of ovary	GLikely pathogenic
Select item 634785	NM_000546.6(TP53):c.437G>A (p.Trp146Ter)	TP53 (W107* +2 more)	Single nucleotide variant (nonsense +1 more)	Li-Fraumeni syndrome +2 more	GPathogenic
Select item 634784	NM_000546.6(TP53):c.326T>G (p.Phe109Cys)	TP53 (F109C +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1	GLikely pathogenic
Select item 634783	NM_000546.6(TP53):c.980_981del (p.Tyr327fs)	TP53 (Y168fs +3 more)	Microsatellite (frameshift variant)	Neoplasm of ovary	GPathogenic
Select item 634782	NM_000546.6(TP53):c.908_909insGGGG (p.Ser303fs)	TP53 (S171fs +3 more)	Insertion (frameshift variant)	Neoplasm of ovary	GPathogenic
Select item 634781	NM_000546.6(TP53):c.996_997del (p.Ile332fs)	TP53 (I293fs +3 more)	Deletion (frameshift variant +1 more)	Neoplasm of ovary	GPathogenic
Select item 634780	NM_000546.6(TP53):c.994-22_1003del	TP53	Deletion (splice acceptor variant)	Neoplasm of ovary	GLikely pathogenic
Select item 634779	NM_000546.6(TP53):c.455del (p.Pro152fs)	TP53 (P152fs +2 more)	Deletion (frameshift variant +1 more)	Li-Fraumeni syndrome	GPathogenic
Select item 634778	NM_000546.6(TP53):c.808T>C (p.Phe270Leu)	TP53 (F138L +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 634777	NM_000546.6(TP53):c.375+5G>T	TP53	Single nucleotide variant (intron variant)	Li-Fraumeni syndrome	GUncertain significance
Select item 634776	NM_000546.6(TP53):c.797del (p.Gly266fs)	TP53 (G266fs +3 more)	Deletion (frameshift variant)	Li-Fraumeni syndrome 1	GPathogenic
Select item 634775	NM_000546.6(TP53):c.545del (p.Cys182fs)	TP53 (C50fs +3 more)	Deletion (frameshift variant)	Prostate cancer, hereditary, 1 +1 more	GConflicting classifications of pathogenicity
Select item 634774	NM_000546.6(TP53):c.660T>A (p.Tyr220Ter)	TP53 (Y181* +3 more)	Single nucleotide variant (nonsense)	Li-Fraumeni syndrome 1	GPathogenic
Select item 634773	NM_000546.6(TP53):c.396G>T (p.Lys132Asn)	TP53 (K132N +1 more)	Single nucleotide variant (missense variant +2 more)	Li-Fraumeni syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 634772	NM_000546.6(TP53):c.714dup (p.Asn239Ter)	TP53 (N80* +3 more)	Duplication (nonsense)	Li-Fraumeni syndrome	GPathogenic
Select item 634771	NM_000546.6(TP53):c.511G>T (p.Glu171Ter)	TP53 (E132* +3 more)	Single nucleotide variant (nonsense)	Li-Fraumeni syndrome	GPathogenic
Select item 634770	NM_000546.6(TP53):c.711G>T (p.Met237Ile)	TP53 (M105I +3 more)	Single nucleotide variant (missense variant)	Adrenocortical carcinoma, hereditary +2 more	GPathogenic/Likely pathogenic
Select item 634769	NM_000546.6(TP53):c.560-1G>A	TP53	Single nucleotide variant (splice acceptor variant)	Li-Fraumeni syndrome 1 +3 more	GPathogenic
Select item 634768	NM_000546.6(TP53):c.467G>C (p.Arg156Pro)	TP53 (R117P +2 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 634767	NM_000546.6(TP53):c.937_946del (p.Ser313fs)	TP53 (S181fs +3 more)	Deletion (frameshift variant)	Neoplasm of ovary	GPathogenic
Select item 634766	NM_000546.6(TP53):c.993+1G>T	TP53	Single nucleotide variant (splice donor variant)	Li-Fraumeni syndrome	GPathogenic
Select item 634765	NM_000546.6(TP53):c.551del (p.Asp184fs)	TP53 (D184fs +3 more)	Deletion (frameshift variant)	Neoplasm of ovary	GPathogenic
Select item 634764	NM_000546.6(TP53):c.609_610delinsCT (p.Glu204Ter)	TP53 (E204* +3 more)	Indel (nonsense)	Neoplasm of ovary	GPathogenic
Select item 634763	NM_000546.6(TP53):c.888_892del (p.His296fs)	TP53 (H257fs +3 more)	Deletion (frameshift variant)	Neoplasm of ovary	GPathogenic
Select item 634762	NM_000546.6(TP53):c.267dup (p.Ser90fs)	TP53 (S51fs +1 more)	Duplication (frameshift variant)	Neoplasm of ovary	GPathogenic
Select item 634761	NM_000546.6(TP53):c.646GTG[2] (p.Val218del)	TP53 (V59del +3 more)	Microsatellite (inframe_deletion)	Li-Fraumeni syndrome 1	GLikely pathogenic
Select item 634760	NM_000546.6(TP53):c.471_474del (p.Arg158fs)	TP53 (R158fs +2 more)	Deletion (frameshift variant +1 more)	Neoplasm of ovary	GPathogenic
Select item 634759	NM_000546.6(TP53):c.526_528delinsCGG (p.Cys176Arg)	TP53 (C17R +3 more)	Indel (missense variant)	Neoplasm of ovary	GLikely pathogenic
Select item 634758	NM_000546.6(TP53):c.246_253del (p.Ala83fs)	TP53 (A83fs +1 more)	Deletion (frameshift variant)	Neoplasm of ovary	GPathogenic
Select item 634757	NM_000546.6(TP53):c.590T>A (p.Val197Glu)	TP53 (V158E +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 634756	NM_000546.6(TP53):c.695T>G (p.Ile232Ser)	TP53 (I100S +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 634755	NM_000546.6(TP53):c.856G>T (p.Glu286Ter)	TP53 (E154* +3 more)	Single nucleotide variant (nonsense)	Li-Fraumeni syndrome	GPathogenic
Select item 634754	NM_000546.6(TP53):c.661G>T (p.Glu221Ter)	TP53 (E182* +3 more)	Single nucleotide variant (nonsense)	Li-Fraumeni syndrome +1 more	GPathogenic
Select item 634753	NM_000546.6(TP53):c.341T>A (p.Leu114Ter)	TP53 (L114* +1 more)	Single nucleotide variant (nonsense)	Neoplasm of ovary	GPathogenic
Select item 634752	NM_000546.6(TP53):c.672+1del	TP53	Deletion (splice donor variant)	Neoplasm of ovary	GPathogenic
Select item 634751	NM_000546.6(TP53):c.1027_1034del (p.Arg342_Glu343insTer)	TP53	Deletion (nonsense +1 more)	Neoplasm of ovary	GPathogenic
Select item 634750	NM_000546.6(TP53):c.260_270del (p.Pro87fs)	TP53 (P87fs +1 more)	Deletion (frameshift variant)	Neoplasm of ovary	GPathogenic
Select item 634749	NM_000546.6(TP53):c.810del (p.Phe270fs)	TP53 (F138fs +3 more)	Deletion (frameshift variant)	Neoplasm of ovary	GPathogenic
Select item 634748	NM_000546.6(TP53):c.224dup (p.Ala76fs)	TP53 (A37fs +1 more)	Duplication (frameshift variant)	Neoplasm of ovary	GPathogenic
Select item 634747	NM_000546.6(TP53):c.840A>C (p.Arg280Ser)	TP53 (R148S +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 634746	NM_058216.3(RAD51C):c.1026+1G>C	RAD51C	Single nucleotide variant (splice donor variant)	Breast-ovarian cancer, familial, susceptibility to, 3	GLikely pathogenic
Select item 634745	NM_000251.3(MSH2):c.2267_2268insGTAG (p.Thr756_Tyr757insTer)	MSH2	Insertion (nonsense +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 634740	NM_007294.4(BRCA1):c.4093T>G (p.Leu1365Val)	BRCA1, LOC126862571 (L1365V +21 more)	Single nucleotide variant (intron variant +1 more)	Hereditary breast ovarian cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 634739	NM_007294.4(BRCA1):c.1902dup (p.Asn635Ter)	BRCA1 (N588* +20 more)	Duplication (nonsense +1 more)	Neoplasm of ovary	GPathogenic
Select item 634738	NM_007294.3:c.(?_-233)_(134+1_135-1)del	BRCA1	Deletion	Neoplasm of ovary	GPathogenic
Select item 634737	NM_007294.3(BRCA1):c.(134+1_135-1)_(547+1_548-1)del	BRCA1	Deletion	Neoplasm of ovary	GPathogenic
Select item 634736	NM_007294.3(BRCA1):c.(80+1_81-1)_(5193+1_5194-1)del	BRCA1	Deletion	Neoplasm of ovary	GPathogenic
Select item 634735	NM_007294.4(BRCA1):c.346G>T (p.Glu116Ter)	BRCA1 (E116* +5 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 634734	NM_000179.3(MSH6):c.1491_1519del (p.Lys498fs)	MSH6 (K196fs +2 more)	Deletion (frameshift variant)	Neoplasm of ovary	GPathogenic
Select item 634733	NM_000314.8(PTEN):c.1034_1050del (p.Leu345fs)	PTEN (L148fs +2 more)	Deletion (frameshift variant)	Neoplasm of ovary	GPathogenic
Select item 634732	NM_000465.4(BARD1):c.1314G>T (p.Lys438Asn)	BARD1 (K438N +1 more)	Single nucleotide variant (missense variant +2 more)	Neoplasm of ovary	GLikely pathogenic
Select item 634730	NM_007294.4(BRCA1):c.1271_1301dup (p.Ser434fs)	BRCA1 (S434fs +20 more)	Duplication (intron variant +1 more)	Neoplasm of ovary	GPathogenic
Select item 634729	NM_002878.4(RAD51D):c.345+1G>A	RAD51D, RAD51L3-RFFL	Single nucleotide variant (splice donor variant +1 more)	Neoplasm of ovary	GLikely pathogenic
Select item 634727	NM_005921.2(MAP3K1):c.2512_2523del (p.Leu838_Leu841del)	MAP3K1	Deletion (inframe_deletion)	Neoplasm of ovary	GLikely pathogenic
Select item 634725	NM_000179.3(MSH6):c.2836G>T (p.Glu946Ter)	MSH6 (E946* +2 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 634724	NM_000059.4(BRCA2):c.9648+2T>C	BRCA2	Single nucleotide variant (splice donor variant)	Neoplasm of ovary	GLikely pathogenic
Select item 634723	NM_007294.4(BRCA1):c.3096del (p.Glu1033fs)	BRCA1 (E986fs +20 more)	Deletion (frameshift variant +1 more)	Neoplasm of ovary	GPathogenic

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