ClinVar for MedGen (Select 462009) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242352	GRCh38/hg38 17q22(chr17:58709858-58734223)x1	RAD51C	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 3	GPathogenic
Select item 3240253	NM_058216.3(RAD51C):c.268C>A (p.Leu90Ile)	RAD51C (L90I)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3	GUncertain significance
Select item 3240252	NM_058216.3(RAD51C):c.843T>G (p.Ile281Met)	RAD51C (I281M)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3	GUncertain significance
Select item 3148765	NM_058216.3(RAD51C):c.706-1G>C	RAD51C	Single nucleotide variant (splice acceptor variant)	Breast-ovarian cancer, familial, susceptibility to, 3	GLikely pathogenic
Select item 3148699	NM_058216.3(RAD51C):c.905_908dup (p.Ser304fs)	RAD51C (S304fs)	Duplication (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3	GLikely pathogenic
Select item 3148679	NM_058216.3(RAD51C):c.858_861dup (p.Thr288fs)	RAD51C (T288fs)	Duplication (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 3148640	NM_058216.3(RAD51C):c.698del (p.His233fs)	LOC129390903, RAD51C (H233fs)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3	GPathogenic
Select item 3148634	NM_058216.3(RAD51C):c.478dup (p.Thr160fs)	RAD51C (T160fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 3	GPathogenic
Select item 3148622	NM_058216.3(RAD51C):c.704_705+21del	LOC129390903, RAD51C	Deletion (splice donor variant)	Breast-ovarian cancer, familial, susceptibility to, 3	GLikely pathogenic
Select item 3148608	NM_058216.3(RAD51C):c.699_702del (p.His233fs)	LOC129390903, RAD51C (H233fs)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3	GPathogenic
Select item 3148592	NM_058216.3(RAD51C):c.837+1_837+13del	RAD51C	Deletion (splice donor variant)	Breast-ovarian cancer, familial, susceptibility to, 3	GLikely pathogenic
Select item 3148587	NM_058216.3(RAD51C):c.969_977delinsTCTTTAAGCAG (p.Leu323_Leu326delinsPheLeuTer)	RAD51C	Indel (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3	GPathogenic
Select item 3148552	NM_058216.3(RAD51C):c.307_320del (p.Phe103fs)	RAD51C (F103fs)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3	GPathogenic
Select item 3148442	NM_058216.3(RAD51C):c.454_460del (p.Ala152fs)	RAD51C (A152fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 3	GPathogenic
Select item 3148426	NM_058216.3(RAD51C):c.242C>G (p.Ser81Ter)	RAD51C (S81*)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3	GPathogenic
Select item 3148407	NM_058216.3(RAD51C):c.656dup (p.Leu219fs)	LOC129390903, RAD51C (L219fs)	Duplication (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3	GPathogenic
Select item 3148400	NM_058216.3(RAD51C):c.361del (p.Thr121fs)	RAD51C (T121fs)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3	GPathogenic
Select item 3148369	NM_058216.3(RAD51C):c.388_400del (p.Gly130fs)	RAD51C (G130fs)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3	GPathogenic
Select item 3148354	NM_058216.3(RAD51C):c.616dup (p.Ser206fs)	LOC129390903, RAD51C (S206fs)	Duplication (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3	GPathogenic
Select item 3148351	NM_058216.3(RAD51C):c.449dup (p.Val151fs)	RAD51C (V151fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 3	GPathogenic
Select item 3148336	NM_058216.3(RAD51C):c.238G>T (p.Glu80Ter)	RAD51C (E80*)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3	GPathogenic
Select item 3148328	NM_058216.3(RAD51C):c.116_120del (p.Leu39fs)	RAD51C (L39fs)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3	GPathogenic
Select item 3148315	NM_058216.3(RAD51C):c.222del (p.Arg74fs)	RAD51C (R74fs)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3	GPathogenic
Select item 3148310	NM_058216.3(RAD51C):c.402dup (p.Cys135fs)	RAD51C (W135fs +1 more)	Duplication (frameshift variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 3	GPathogenic
Select item 3148302	NM_058216.3(RAD51C):c.412_424delinsATC (p.Leu138fs)	RAD51C (L138fs)	Indel (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 3	GPathogenic
Select item 3148220	NM_058216.3(RAD51C):c.405-1G>T	RAD51C	Single nucleotide variant (splice acceptor variant)	Breast-ovarian cancer, familial, susceptibility to, 3	GLikely pathogenic
Select item 3148145	NM_058216.3(RAD51C):c.845T>G (p.Leu282Ter)	RAD51C (L282*)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3	GPathogenic
Select item 3148144	NM_058216.3(RAD51C):c.833T>G (p.Leu278Ter)	RAD51C (L278*)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3	GPathogenic
Select item 3148125	NM_058216.3(RAD51C):c.289C>T (p.Gln97Ter)	RAD51C (Q97*)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3	GPathogenic
Select item 3148029	NM_058216.3(RAD51C):c.630T>A (p.Tyr210Ter)	LOC129390903, RAD51C (Y210*)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3	GPathogenic
Select item 3147978	NM_058216.3(RAD51C):c.293del (p.Gly98fs)	RAD51C (G98fs)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3	GPathogenic
Select item 2812228	NM_058216.3(RAD51C):c.388G>C (p.Gly130Arg)	RAD51C (G130R)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group O +1 more	GConflicting classifications of pathogenicity
Select item 2765342	NM_058216.3(RAD51C):c.208A>T (p.Thr70Ser)	RAD51C (T70S)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group O +1 more	GUncertain significance
Select item 2711512	NM_058216.3(RAD51C):c.478del (p.Thr160fs)	RAD51C (T160fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 3 +2 more	GPathogenic
Select item 2708888	NM_058216.3(RAD51C):c.383G>T (p.Gly128Val)	RAD51C (G128V)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group O +1 more	GUncertain significance
Select item 2705286	NM_058216.3(RAD51C):c.627T>G (p.Tyr209Ter)	LOC129390903, RAD51C (Y209*)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 2678176	NM_058216.3(RAD51C):c.974delinsAA (p.Thr325fs)	RAD51C (T325fs)	Indel (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3	GLikely pathogenic
Select item 2678175	NM_058216.3(RAD51C):c.838-1G>C	RAD51C	Single nucleotide variant (splice acceptor variant)	Breast-ovarian cancer, familial, susceptibility to, 3	GLikely pathogenic
Select item 2678174	NM_058216.3(RAD51C):c.399dup (p.Leu134fs)	RAD51C (L134fs)	Duplication (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3	GPathogenic/Likely pathogenic
Select item 2678173	NM_058216.3(RAD51C):c.952del (p.Asp318fs)	RAD51C (D318fs)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3	GLikely pathogenic
Select item 2678172	NM_058216.3(RAD51C):c.905-7C>G	RAD51C	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 3	GUncertain significance
Select item 2678171	NM_058216.3(RAD51C):c.561dup (p.Lys188fs)	RAD51C (K188fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 3	GLikely pathogenic
Select item 2678169	NM_058216.3(RAD51C):c.475G>C (p.Asp159His)	RAD51C (D159H)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 3	GUncertain significance
Select item 2678168	NM_058216.3(RAD51C):c.682G>A (p.Asp228Asn)	LOC129390903, RAD51C (D228N)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3	GUncertain significance
Select item 2678167	NM_058216.3(RAD51C):c.422A>T (p.Asp141Val)	RAD51C (D141V)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 3	GUncertain significance
Select item 2678165	NM_058216.3(RAD51C):c.535C>A (p.His179Asn)	RAD51C (H179N)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group O +1 more	GUncertain significance
Select item 2674419	NM_058216.3(RAD51C):c.42_45dup (p.Ser16fs)	RAD51C (S16fs)	Duplication (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3	GPathogenic
Select item 2673914	NM_058216.3(RAD51C):c.942_948del (p.Phe315fs)	RAD51C (F315fs)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3	GLikely pathogenic
Select item 2673913	NM_058216.3(RAD51C):c.959del (p.Lys320fs)	RAD51C (K320fs)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3	GLikely pathogenic
Select item 2673897	NM_058216.3(RAD51C):c.929_939del (p.Thr310fs)	RAD51C (T310fs)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3	GLikely pathogenic
Select item 2663993	NM_058216.3(RAD51C):c.572-1854_705+2812del	LOC129390903, RAD51C	Deletion (splice acceptor variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3	GLikely pathogenic
Select item 2581147	GRCh37/hg19 17q22(chr17:56787220-56811584)x1	RAD51C	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 3 +1 more	Gnot provided
Select item 2580946	NM_058216.3:c.-20_705+5del	RAD51C	Deletion	Breast-ovarian cancer, familial, susceptibility to, 3	GLikely pathogenic
Select item 2574680	NM_058216.3(RAD51C):c.37G>T (p.Asp13Tyr)	RAD51C (D13Y)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3	GUncertain significance
Select item 2573245	NM_058216.3(RAD51C):c.145+2T>C	LOC130061310, RAD51C	Single nucleotide variant (splice donor variant)	Breast-ovarian cancer, familial, susceptibility to, 3	GLikely pathogenic
Select item 2573179	NM_058216.3(RAD51C):c.145+1G>C	RAD51C	Single nucleotide variant (splice donor variant)	Breast-ovarian cancer, familial, susceptibility to, 3	GLikely pathogenic
Select item 2562771	NM_058216.3(RAD51C):c.301dup (p.Ile101fs)	RAD51C (I101fs)	Duplication (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3 +1 more	GPathogenic
Select item 2505285	NM_058216.3(RAD51C):c.837+3A>T	RAD51C	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 3	GUncertain significance
Select item 2502442	NM_058216.3(RAD51C):c.561C>G (p.His187Gln)	RAD51C (H187Q)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group O +1 more	GUncertain significance
Select item 2431248	NM_058216.3(RAD51C):c.784_787dup (p.Asn263fs)	RAD51C (N263fs)	Duplication (frameshift variant +1 more)	Fanconi anemia complementation group O +1 more	GPathogenic
Select item 2121546	NM_058216.3(RAD51C):c.710G>T (p.Arg237Leu)	RAD51C (R237L)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group O +1 more	GUncertain significance
Select item 2110767	NM_058216.3(RAD51C):c.286A>G (p.Thr96Ala)	RAD51C (T96A)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group O +2 more	GUncertain significance
Select item 2089801	NM_058216.3(RAD51C):c.109del (p.Glu37fs)	RAD51C (E37fs)	Deletion (frameshift variant +1 more)	Fanconi anemia complementation group O +1 more	GPathogenic
Select item 2088056	NM_058216.3(RAD51C):c.484G>T (p.Gly162Ter)	RAD51C (G162*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 3 +1 more	GPathogenic
Select item 2033298	NM_058216.3(RAD51C):c.571+3_571+6del	RAD51C	Deletion (splice donor variant)	Fanconi anemia complementation group O +1 more	GUncertain significance
Select item 2021697	NM_058216.3(RAD51C):c.615_618del (p.Ser206fs)	LOC129390903, RAD51C (S206fs)	Microsatellite (frameshift variant +1 more)	Fanconi anemia complementation group O +1 more	GPathogenic/Likely pathogenic
Select item 1969528	NM_058216.3(RAD51C):c.346C>T (p.Pro116Ser)	RAD51C (P116S)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group O +1 more	GUncertain significance
Select item 1803200	NM_058216.3(RAD51C):c.222A>T (p.Arg74Ser)	RAD51C (R74S)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3	GUncertain significance
Select item 1801656	NM_058216.3(RAD51C):c.965+1del	RAD51C	Deletion (splice donor variant)	Breast-ovarian cancer, familial, susceptibility to, 3	GLikely pathogenic
Select item 1797407	NM_058216.3(RAD51C):c.28A>G (p.Met10Val)	RAD51C (M10V)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group O +2 more	GUncertain significance
Select item 1790417	NM_058216.3(RAD51C):c.237dup (p.Glu80Ter)	RAD51C (E80*)	Duplication (nonsense +2 more)	Breast-ovarian cancer, familial, susceptibility to, 3 +1 more	GPathogenic
Select item 1770324	NM_058216.3(RAD51C):c.133G>A (p.Glu45Lys)	RAD51C (E45K)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1765149	NM_058216.3(RAD51C):c.892G>A (p.Val298Ile)	RAD51C (V298I)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1764570	NM_058216.3(RAD51C):c.875G>A (p.Arg292Lys)	RAD51C (R292K)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group O +2 more	GConflicting classifications of pathogenicity
Select item 1761543	NM_058216.3(RAD51C):c.799C>T (p.Gln267Ter)	RAD51C (Q267*)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 1749281	NM_058216.3(RAD51C):c.571G>T (p.Glu191Ter)	RAD51C (E191*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GLikely pathogenic
Select item 1749171	NM_058216.3(RAD51C):c.570_571+16del	RAD51C	Deletion (splice donor variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely pathogenic
Select item 1739327	NM_058216.3(RAD51C):c.427C>T (p.Gln143Ter)	RAD51C (Q143*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 3 +1 more	GPathogenic
Select item 1737545	NM_058216.1(RAD51C):c.407_420del14	RAD51C	Deletion (genic downstream transcript variant)	Breast-ovarian cancer, familial, susceptibility to, 3 +1 more	GPathogenic
Select item 1730889	NM_058216.3(RAD51C):c.338G>T (p.Gly113Val)	RAD51C (G113V)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3 +1 more	GUncertain significance
Select item 1713231	NC_000017.10:g.56786681_56797331del	RAD51C	Deletion	Breast-ovarian cancer, familial, susceptibility to, 3	GPathogenic
Select item 1713230	NC_000017.10:g.56782798_56819433del	RAD51C	Deletion	Breast-ovarian cancer, familial, susceptibility to, 3	GPathogenic
Select item 1709992	NM_058216.3(RAD51C):c.829A>T (p.Arg277Ter)	RAD51C (R277*)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3	GPathogenic/Likely pathogenic
Select item 1696412	NM_000546.6(TP53):c.74+23C>T	TP53	Single nucleotide variant (5 prime UTR variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3	GLikely benign
Select item 1672481	NM_058216.3(RAD51C):c.404+16C>T	RAD51C	Single nucleotide variant (3 prime UTR variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 3 +1 more	GLikely benign
Select item 1614915	NM_058216.3(RAD51C):c.904+16G>C	RAD51C	Single nucleotide variant (intron variant)	Fanconi anemia complementation group O +1 more	GLikely benign
Select item 1517986	NM_058216.3(RAD51C):c.352A>G (p.Met118Val)	RAD51C (M118V)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group O +1 more	GUncertain significance
Select item 1502314	NM_058216.3(RAD51C):c.910A>G (p.Ser304Gly)	RAD51C (S304G)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group O +1 more	GUncertain significance
Select item 1487883	NM_058216.3(RAD51C):c.1026+6T>A	RAD51C	Single nucleotide variant (intron variant)	Fanconi anemia complementation group O +2 more	GConflicting classifications of pathogenicity
Select item 1455900	NM_058216.3(RAD51C):c.168del (p.Ala57fs)	RAD51C (A57fs)	Deletion (frameshift variant +1 more)	Fanconi anemia complementation group O +1 more	GPathogenic/Likely pathogenic
Select item 1453563	NM_058216.3(RAD51C):c.444dup (p.Gly149fs)	RAD51C (G149fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 3 +2 more	GPathogenic
Select item 1453181	NM_058216.3(RAD51C):c.358dup (p.Thr120fs)	RAD51C (T120fs)	Duplication (frameshift variant +1 more)	Fanconi anemia complementation group O +1 more	GPathogenic
Select item 1453095	NM_058216.3(RAD51C):c.502dup (p.Arg168fs)	RAD51C (R168fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 3 +1 more	GPathogenic
Select item 1447812	NM_058216.3(RAD51C):c.245_246insGATGTACA (p.His82fs)	RAD51C (H82fs)	Insertion (frameshift variant +1 more)	Fanconi anemia complementation group O +2 more	GPathogenic
Select item 1438265	NM_058216.3(RAD51C):c.407T>G (p.Met136Arg)	RAD51C (M136R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group O +2 more	GUncertain significance
Select item 1411600	NM_058216.3(RAD51C):c.860del (p.Thr287fs)	RAD51C (T287fs)	Deletion (frameshift variant +1 more)	Fanconi anemia complementation group O +1 more	GPathogenic/Likely pathogenic
Select item 1398143	NM_058216.3(RAD51C):c.852T>G (p.Asn284Lys)	RAD51C (N284K)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group O +1 more	GUncertain significance
Select item 1374071	NM_058216.3(RAD51C):c.904+17A>G	RAD51C	Single nucleotide variant (intron variant)	Fanconi anemia complementation group O +1 more	GConflicting classifications of pathogenicity
Select item 1364557	NM_058216.3(RAD51C):c.915G>A (p.Trp305Ter)	RAD51C (W305*)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3 +2 more	GPathogenic
Select item 1338807	NM_058216.3:c.(705+1_706-1)_(1131+1_?)del	RAD51C	Deletion	Breast-ovarian cancer, familial, susceptibility to, 3	GLikely pathogenic

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