"Quest Diagnostics Nichols Institute San Juan Capistrano"[submitter] A - ClinVar

Search results

Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 619724	NM_058216.3(RAD51C):c.-7G>C	RAD51C	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 382213	NM_058216.3(RAD51C):c.-7G>A	RAD51C	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 548876	NM_058216.3(RAD51C):c.4C>G (p.Arg2Gly)	RAD51C (R2G)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 128203	NM_058216.3(RAD51C):c.14C>T (p.Thr5Met)	RAD51C (T5M)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 482159	NM_058216.3(RAD51C):c.28A>T (p.Met10Leu)	RAD51C (M10L)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GUncertain significance
Select item 182841	NM_058216.3(RAD51C):c.29T>G (p.Met10Arg)	RAD51C (M10R)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 2024698	NM_058216.3(RAD51C):c.48T>C (p.Ser16=)	RAD51C	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 182847	NM_058216.3(RAD51C):c.93del (p.Phe32fs)	RAD51C (F32fs)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3 +5 more	GPathogenic
Select item 140913	NM_058216.3(RAD51C):c.90G>A (p.Ala30=)	RAD51C	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3 +5 more	GBenign
Select item 390710	NM_058216.3(RAD51C):c.102T>G (p.Thr34=)	RAD51C	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 216803	NM_058216.3(RAD51C):c.106G>A (p.Glu36Lys)	RAD51C (E36K)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group O +4 more	GConflicting classifications of pathogenicity
Select item 188123	NM_058216.3(RAD51C):c.118G>A (p.Glu40Lys)	RAD51C (E40K)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3 +3 more	GUncertain significance
Select item 492361	NM_058216.3(RAD51C):c.121G>A (p.Val41Met)	RAD51C (V41M)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 140940	NM_058216.3(RAD51C):c.134A>G (p.Glu45Gly)	RAD51C (E45G)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3 +6 more	GConflicting classifications of pathogenicity
Select item 246164	NM_058216.3(RAD51C):c.135G>C (p.Glu45Asp)	RAD51C (E45D)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 185138	NM_058216.3(RAD51C):c.141C>T (p.Ser47=)	RAD51C	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 136156	NM_058216.3(RAD51C):c.146-8A>G	RAD51C	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +6 more	GConflicting classifications of pathogenicity
Select item 1004234	NM_058216.3(RAD51C):c.152G>T (p.Gly51Val)	RAD51C (G51V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 182831	NM_058216.3(RAD51C):c.164C>T (p.Ala55Val)	RAD51C (A55V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 439294	NM_058216.3(RAD51C):c.186A>C (p.Gln62His)	RAD51C (Q62H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GUncertain significance
Select item 138869	NM_058216.3(RAD51C):c.186A>G (p.Gln62=)	RAD51C	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3 +5 more	GBenign/Likely benign
Select item 136157	NM_058216.3(RAD51C):c.195A>G (p.Arg65=)	RAD51C	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia complementation group O +7 more	GBenign/Likely benign
Select item 480490	NM_058216.3(RAD51C):c.214A>G (p.Lys72Glu)	RAD51C (K72E)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group O +3 more	GUncertain significance
Select item 993123	NM_058216.3(RAD51C):c.227C>G (p.Ala76Gly)	RAD51C (A76G)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group O +1 more	GUncertain significance
Select item 241767	NM_058216.3(RAD51C):c.233C>T (p.Thr78Ile)	RAD51C (T78I)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 231151	NM_058216.3(RAD51C):c.257C>T (p.Thr86Ile)	RAD51C (T86I)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 241768	NM_058216.3(RAD51C):c.258A>T (p.Thr86=)	RAD51C	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia complementation group O +3 more	GConflicting classifications of pathogenicity
Select item 229792	NM_058216.3(RAD51C):c.265G>A (p.Glu89Lys)	RAD51C (E89K)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GUncertain significance
Select item 409848	NM_058216.3(RAD51C):c.287C>G (p.Thr96Ser)	RAD51C (T96S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 142093	NM_058216.3(RAD51C):c.335G>C (p.Gly112Ala)	RAD51C (G112A)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 183850	NM_058216.3(RAD51C):c.336G>A (p.Gly112=)	RAD51C	Single nucleotide variant (synonymous variant +1 more)	not specified +5 more	GBenign/Likely benign
Select item 478778	NM_058216.3(RAD51C):c.361A>G (p.Thr121Ala)	RAD51C (T121A)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 132721	NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr)	RAD51C (A126T)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GBenign/Likely benign
Select item 418441	NM_058216.3(RAD51C):c.404G>C (p.Cys135Ser)	RAD51C (C135S +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 182835	NM_058216.3(RAD51C):c.404+2T>C	RAD51C	Single nucleotide variant (stop lost +2 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 409857	NM_058216.3(RAD51C):c.404+3A>G	RAD51C	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GUncertain significance
Select item 128205	NM_058216.3(RAD51C):c.428A>G (p.Gln143Arg)	RAD51C (Q143R)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 3 +4 more	GUncertain significance
Select item 142840	NM_058216.3(RAD51C):c.431T>C (p.Ile144Thr)	RAD51C (I144T)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group O +5 more	GConflicting classifications of pathogenicity
Select item 492368	NM_058216.3(RAD51C):c.435A>G (p.Pro145=)	RAD51C	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 3 +4 more	GConflicting classifications of pathogenicity
Select item 484757	NM_058216.3(RAD51C):c.440G>A (p.Cys147Tyr)	RAD51C (C147Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 232358	NM_058216.3(RAD51C):c.489T>A (p.Ser163Arg)	RAD51C (S163R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group O +3 more	GUncertain significance
Select item 188317	NM_058216.3(RAD51C):c.492T>G (p.Phe164Leu)	RAD51C (F164L)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 128206	NM_058216.3(RAD51C):c.506T>C (p.Val169Ala)	RAD51C (V169A)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +6 more	GConflicting classifications of pathogenicity
Select item 184256	NM_058216.3(RAD51C):c.513C>T (p.Asp171=)	RAD51C	Single nucleotide variant (synonymous variant)	Breast and/or ovarian cancer +3 more	GLikely benign
Select item 482175	NM_058216.3(RAD51C):c.519T>C (p.Ala173=)	RAD51C	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 219853	NM_058216.3(RAD51C):c.520A>G (p.Thr174Ala)	RAD51C (T174A)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 3 +3 more	GUncertain significance
Select item 136160	NM_058216.3(RAD51C):c.523G>A (p.Ala175Thr)	RAD51C (A175T)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +5 more	GUncertain significance
Select item 538795	NM_058216.3(RAD51C):c.537C>T (p.His179=)	RAD51C	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 3 +4 more	GLikely benign
Select item 482173	NM_058216.3(RAD51C):c.556_558dup (p.Lys186dup)	RAD51C	Duplication (inframe_insertion)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 141353	NM_058216.3(RAD51C):c.563A>T (p.Lys188Met)	RAD51C (K188M)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group O +3 more	GConflicting classifications of pathogenicity
Select item 140849	NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter)	RAD51C (R193*)	Single nucleotide variant (nonsense +1 more)	RAD51C-related disorder +6 more	GPathogenic/Likely pathogenic
Select item 184991	NM_058216.3(RAD51C):c.621T>A (p.His207Gln)	LOC129390903, RAD51C (H207Q)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 185074	NM_058216.3(RAD51C):c.630T>G (p.Tyr210Ter)	LOC129390903, RAD51C (Y210*)	Single nucleotide variant (nonsense +1 more)	Hereditary breast ovarian cancer syndrome +5 more	GPathogenic/Likely pathogenic
Select item 187633	NM_058216.3(RAD51C):c.635G>A (p.Arg212His)	LOC129390903, RAD51C (R212H)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3 +5 more	GConflicting classifications of pathogenicity
Select item 141324	NM_058216.3(RAD51C):c.640C>T (p.Arg214Cys)	LOC129390903, RAD51C (R214C)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group O +6 more	GConflicting classifications of pathogenicity
Select item 929794	NM_058216.3(RAD51C):c.644A>G (p.Asp215Gly)	LOC129390903, RAD51C (D215G)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 232604	NM_058216.3(RAD51C):c.656T>C (p.Leu219Ser)	LOC129390903, RAD51C (L219S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 486269	NM_058216.3(RAD51C):c.677T>C (p.Leu226Pro)	LOC129390903, RAD51C (L226P)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 492379	NM_058216.3(RAD51C):c.680C>T (p.Pro227Leu)	LOC129390903, RAD51C (P227L)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group O +2 more	GUncertain significance
Select item 241774	NM_058216.3(RAD51C):c.687C>G (p.Phe229Leu)	LOC129390903, RAD51C (F229L)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 1330083	NM_058216.3(RAD51C):c.692_694delinsAA (p.Ser231_Glu232delinsTer)	LOC129390903, RAD51C	Indel (nonsense +1 more)	not provided	GPathogenic
Select item 216807	NM_058216.3(RAD51C):c.705G>T (p.Lys235Asn)	LOC129390903, RAD51C (K235N)	Single nucleotide variant (missense variant +1 more)	Breast and/or ovarian cancer +4 more	GConflicting classifications of pathogenicity
Select item 186364	NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter)	RAD51C (R237*)	Single nucleotide variant (nonsense +1 more)	Hereditary breast ovarian cancer syndrome +4 more	GPathogenic
Select item 219586	NM_058216.3(RAD51C):c.710G>A (p.Arg237Gln)	RAD51C (R237Q)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 241777	NM_058216.3(RAD51C):c.719T>C (p.Ile240Thr)	RAD51C (I240T)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +4 more	GUncertain significance
Select item 136162	NM_058216.3(RAD51C):c.721G>A (p.Val241Met)	RAD51C (V241M)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group O +5 more	GUncertain significance
Select item 182827	NM_058216.3(RAD51C):c.730A>G (p.Ile244Val)	RAD51C (I244V)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +5 more	GUncertain significance
Select item 185363	NM_058216.3(RAD51C):c.744T>C (p.Phe248=)	RAD51C	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 142453	NM_058216.3(RAD51C):c.772C>T (p.Arg258Cys)	RAD51C (R258C)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3 +4 more	GUncertain significance
Select item 6822	NM_058216.3(RAD51C):c.773G>A (p.Arg258His)	RAD51C (R258H)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +4 more	GPathogenic/Likely pathogenic
Select item 141175	NM_058216.3(RAD51C):c.778C>T (p.Arg260Trp)	RAD51C (R260W)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 182829	NM_058216.3(RAD51C):c.779G>C (p.Arg260Pro)	RAD51C (R260P)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 184589	NM_058216.3(RAD51C):c.783A>G (p.Leu261=)	RAD51C	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GLikely benign
Select item 128211	NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser)	RAD51C (G264S)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3 +7 more	GConflicting classifications of pathogenicity
Select item 229854	NM_058216.3(RAD51C):c.837+1G>A	RAD51C	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 132702	NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala)	RAD51C (T287A)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +7 more	GBenign/Likely benign
Select item 141205	NM_058216.3(RAD51C):c.862A>G (p.Thr288Ala)	RAD51C (T288A)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3 +3 more	GConflicting classifications of pathogenicity
Select item 186828	NM_058216.3(RAD51C):c.890T>C (p.Leu297Pro)	RAD51C (L297P)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 480510	NM_058216.3(RAD51C):c.904+1G>T	RAD51C	Single nucleotide variant (splice donor variant)	not provided +3 more	GLikely pathogenic
Select item 142762	NM_058216.3(RAD51C):c.904+5G>T	RAD51C	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 3 +4 more	GPathogenic/Likely pathogenic
Select item 232614	NM_058216.3(RAD51C):c.914G>A (p.Trp305Ter)	RAD51C (W305*)	Single nucleotide variant (nonsense +1 more)	Fanconi anemia complementation group O +4 more	GPathogenic/Likely pathogenic
Select item 186543	NM_058216.3(RAD51C):c.922G>T (p.Ala308Ser)	RAD51C (A308S)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 185133	NM_058216.3(RAD51C):c.939A>G (p.Leu313=)	RAD51C	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 576199	NM_058216.3(RAD51C):c.958A>G (p.Lys320Glu)	RAD51C (K320E)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group O +2 more	GUncertain significance
Select item 851327	NM_058216.3(RAD51C):c.966-1G>C	RAD51C	Single nucleotide variant (splice acceptor variant)	Hereditary breast ovarian cancer syndrome +3 more	GConflicting classifications of pathogenicity
Select item 141835	NM_058216.3(RAD51C):c.968T>G (p.Leu323Trp)	RAD51C (L323W)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 231694	NM_058216.3(RAD51C):c.987A>T (p.Ser329=)	RAD51C	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 993148	NM_058216.3(RAD51C):c.989C>G (p.Pro330Arg)	RAD51C (P330R)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3 +2 more	GUncertain significance
Select item 486279	NM_058216.3(RAD51C):c.994C>T (p.Gln332Ter)	RAD51C (Q332*)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 128201	NM_058216.3(RAD51C):c.1026+5_1026+7del	RAD51C	Deletion (intron variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 187487	NM_058216.3(RAD51C):c.1055C>A (p.Thr352Asn)	RAD51C (T352N)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 142416	NM_058216.3(RAD51C):c.1096C>T (p.Arg366Trp)	RAD51C (R366W)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3 +4 more	GUncertain significance
Select item 420041	NM_058216.3(RAD51C):c.1097G>A (p.Arg366Gln)	RAD51C (R366Q)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 187061	NM_058216.3(RAD51C):c.1109G>A (p.Arg370Gln)	RAD51C (R370Q)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group O +5 more	GUncertain significance
Select item 439293	NM_058216.3(RAD51C):c.1118A>C (p.Glu373Ala)	RAD51C (E373A)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1809539	NM_058216.2:c.-71_837dup	RAD51C	Duplication	not provided	GUncertain significance
Select item 993258	NM_058216.2:c.572-?_705+?del	RAD51C	Deletion	not provided	GPathogenic

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Items: 97