"GenomeConnect - Invitae Patient Insights Network"[submitter] AND "RAD - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 480401	NM_005732.4(RAD50):c.349G>T (p.Val117Phe)	RAD50 (V117F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 140908	NM_005732.4(RAD50):c.610A>G (p.Lys204Glu)	RAD50 (K204E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 408402	NM_005732.4(RAD50):c.832C>T (p.Arg278Ter)	RAD50 (R278*)	Single nucleotide variant (nonsense)	Nijmegen breakage syndrome-like disorder +1 more	GPathogenic
Select item 127990	NM_005732.4(RAD50):c.1094G>A (p.Arg365Gln)	RAD50 (R365Q)	Single nucleotide variant (missense variant)	RAD50-related condition +7 more	GConflicting classifications of pathogenicity
Select item 184469	NM_005732.4(RAD50):c.1237C>T (p.Gln413Ter)	RAD50 (Q413*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 142405	NM_005732.4(RAD50):c.1378G>A (p.Val460Met)	RAD50 (V460M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 141646	NM_005732.4(RAD50):c.1958C>A (p.Ser653Ter)	RAD50 (S653*)	Single nucleotide variant (nonsense)	RAD50-related condition +2 more	GPathogenic
Select item 128001	NM_005732.4(RAD50):c.2177G>A (p.Arg726His)	RAD50 (R726H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 128004	NM_005732.4(RAD50):c.2397G>C (p.Gln799His)	RAD50 (Q799H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 128006	NM_005732.4(RAD50):c.2548C>T (p.Arg850Cys)	RAD50 (R850C)	Single nucleotide variant (missense variant)	RAD50-related condition +4 more	GConflicting classifications of pathogenicity
Select item 128008	NM_005732.4(RAD50):c.2647C>T (p.Arg883Cys)	RAD50 (R883C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 186771	NM_005732.4(RAD50):c.2891A>T (p.Tyr964Phe)	RAD50 (Y964F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 231200	NM_005732.4(RAD50):c.3229C>T (p.Arg1077Ter)	RAD50 (R1077*)	Single nucleotide variant (nonsense)	Nijmegen breakage syndrome-like disorder +2 more	GPathogenic/Likely pathogenic
Select item 127004	NM_005732.4(RAD50):c.3230G>A (p.Arg1077Gln)	RAD50 (R1077Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1456267	NM_005732.4(RAD50):c.3458_3459dup (p.Thr1154fs)	RAD50, TH2-LCR +1 more (T1154fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 37378	NM_005732.4(RAD50):c.3508G>A (p.Asp1170Asn)	RAD50, TH2-LCR +1 more (D1170N)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 142065	NM_005732.4(RAD50):c.3779G>A (p.Arg1260His)	RAD50, TH2LCRR (R1260H)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance