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

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 128019	NM_005732.4(RAD50):c.3455G>A (p.Arg1152Gln)	TH2-LCR, TH2LCRR +1 more (R1152Q)	Single nucleotide variant (missense variant)	Nijmegen breakage syndrome-like disorder +4 more	GConflicting classifications of pathogenicity
Select item 186241	NM_005732.4(RAD50):c.3466C>T (p.Arg1156Cys)	TH2LCRR, RAD50 +1 more (R1156C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1573809	NM_005732.4(RAD50):c.3475+9dup	RAD50, TH2-LCR +1 more	Duplication (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 414967	NM_005732.4(RAD50):c.3475+10A>C	RAD50, TH2-LCR +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 142598	NM_005732.4(RAD50):c.3496C>T (p.Arg1166Trp)	RAD50, TH2-LCR +1 more (R1166W)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +3 more	GConflicting classifications of pathogenicity
Select item 141732	NM_005732.4(RAD50):c.3507C>T (p.Ala1169=)	TH2LCRR, TH2-LCR +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 215860	NM_005732.4(RAD50):c.3522A>T (p.Ser1174=)	RAD50, TH2-LCR +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 414949	NM_005732.4(RAD50):c.3609T>G (p.Ala1203=)	RAD50, TH2-LCR +1 more	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 480402	NM_005732.4(RAD50):c.3642C>T (p.Arg1214=)	RAD50, TH2-LCR +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 566301	NM_005732.4(RAD50):c.3690G>A (p.Leu1230=)	TH2-LCR, TH2LCRR +1 more	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 414947	NM_005732.4(RAD50):c.3753-4G>T	TH2LCRR, RAD50 +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 219421	NM_005732.4(RAD50):c.3766C>A (p.Arg1256Ser)	RAD50, TH2-LCR +1 more (R1256S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 183984	NM_005732.4(RAD50):c.3769T>G (p.Ser1257Ala)	RAD50, TH2-LCR +1 more (S1257A)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity