"Color Diagnostics, LLC DBA Color Health"[submitter] AND "LOC129390903 - ClinVar

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Search results

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 496506	NM_058216.3(RAD51C):c.601C>G (p.Leu201Val)	LOC129390903, RAD51C (L201V)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 136161	NM_058216.3(RAD51C):c.602T>C (p.Leu201Pro)	LOC129390903, RAD51C (L201P)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group O +2 more	GUncertain significance
Select item 921191	NM_058216.3(RAD51C):c.606T>A (p.Asp202Glu)	LOC129390903, RAD51C (D202E)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group O +1 more	GConflicting classifications of pathogenicity
Select item 409868	NM_058216.3(RAD51C):c.607A>G (p.Asn203Asp)	LOC129390903, RAD51C (N203D)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 141663	NM_058216.3(RAD51C):c.620A>G (p.His207Arg)	LOC129390903, RAD51C (H207R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 484742	NM_058216.3(RAD51C):c.625_628del (p.Tyr209fs)	LOC129390903, RAD51C (Y209fs)	Microsatellite (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3 +1 more	GPathogenic
Select item 184991	NM_058216.3(RAD51C):c.621T>A (p.His207Gln)	LOC129390903, RAD51C (H207Q)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 241773	NM_058216.3(RAD51C):c.622A>G (p.Ile208Val)	LOC129390903, RAD51C (I208V)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
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 486273	NM_058216.3(RAD51C):c.634C>G (p.Arg212Gly)	LOC129390903, RAD51C (R212G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 409842	NM_058216.3(RAD51C):c.634C>T (p.Arg212Cys)	LOC129390903, RAD51C (R212C)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group O +3 more	GUncertain significance
Select item 187633	NM_058216.3(RAD51C):c.635G>A (p.Arg212His)	LOC129390903, RAD51C (R212H)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 794824	NM_058216.3(RAD51C):c.636C>T (p.Arg212=)	LOC129390903, RAD51C	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 141324	NM_058216.3(RAD51C):c.640C>T (p.Arg214Cys)	LOC129390903, RAD51C (R214C)	Single nucleotide variant (missense variant +1 more)	Breast and/or ovarian cancer +6 more	GConflicting classifications of pathogenicity
Select item 484729	NM_058216.3(RAD51C):c.641G>A (p.Arg214His)	LOC129390903, RAD51C (R214H)	Single nucleotide variant (missense variant +1 more)	not provided +3 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 2774198	NM_058216.3(RAD51C):c.645C>T (p.Asp215=)	LOC129390903, RAD51C	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia complementation group O +1 more	GLikely benign
Select item 487202	NM_058216.3(RAD51C):c.649A>T (p.Thr217Ser)	LOC129390903, RAD51C (T217S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 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)	Breast-ovarian cancer, familial, susceptibility to, 3 +4 more	GConflicting classifications of pathogenicity
Select item 1754562	NM_058216.3(RAD51C):c.662C>T (p.Ala221Val)	LOC129390903, RAD51C (A221V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 923126	NM_058216.3(RAD51C):c.663A>T (p.Ala221=)	LOC129390903, RAD51C	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 627998	NM_058216.3(RAD51C):c.666A>C (p.Gln222His)	LOC129390903, RAD51C (Q222H)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 232156	NM_058216.3(RAD51C):c.672_705+65dup	LOC129390903, RAD51C	Duplication (splice donor variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 921349	NM_058216.3(RAD51C):c.679C>T (p.Pro227Ser)	LOC129390903, RAD51C (P227S)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group O +1 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 927790	NM_058216.3(RAD51C):c.683A>G (p.Asp228Gly)	LOC129390903, RAD51C (D228G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 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)	Fanconi anemia complementation group O +2 more	GUncertain significance
Select item 480506	NM_058216.3(RAD51C):c.688C>T (p.Leu230Phe)	LOC129390903, RAD51C (L230F)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 629241	NM_058216.3(RAD51C):c.692C>G (p.Ser231Ter)	LOC129390903, RAD51C (S231*)	Single nucleotide variant (nonsense +1 more)	Fanconi anemia complementation group O +2 more	GPathogenic
Select item 409843	NM_058216.3(RAD51C):c.692C>T (p.Ser231Leu)	LOC129390903, RAD51C (S231L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 232379	NM_058216.3(RAD51C):c.696A>T (p.Glu232Asp)	LOC129390903, RAD51C (E232D)	Single nucleotide variant (missense variant +1 more)	RAD51C-related disorder +4 more	GUncertain significance
Select item 183944	NM_058216.3(RAD51C):c.696A>G (p.Glu232=)	LOC129390903, RAD51C	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia complementation group O +1 more	GLikely benign
Select item 142919	NM_058216.3(RAD51C):c.701C>G (p.Ser234Ter)	LOC129390903, RAD51C (S234*)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3 +2 more	GPathogenic
Select item 630133	NM_058216.3(RAD51C):c.704A>C (p.Lys235Thr)	LOC129390903, RAD51C (K235T)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group O +1 more	GUncertain significance
Select item 230577	NM_058216.3(RAD51C):c.705+1G>A	LOC129390903, RAD51C	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group O +2 more	GPathogenic/Likely pathogenic
Select item 241775	NM_058216.3(RAD51C):c.705+3A>G	LOC129390903, RAD51C	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 409867	NM_058216.3(RAD51C):c.705+4T>G	LOC129390903, RAD51C	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 492380	NM_058216.3(RAD51C):c.705+8T>A	LOC129390903, RAD51C	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 215958	NM_058216.3(RAD51C):c.705+10A>G	LOC129390903, RAD51C	Single nucleotide variant (intron variant)	Fanconi anemia complementation group O +2 more	GConflicting classifications of pathogenicity
Select item 378460	NM_058216.3(RAD51C):c.705+14T>C	LOC129390903, RAD51C	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 3 +3 more	GLikely benign

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Items: 40