C2751318[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 548884	NM_005732.4(RAD50):c.183del (p.Gly63fs)	RAD50 (G63fs)	Deletion (frameshift variant)	Nijmegen breakage syndrome-like disorder	GLikely pathogenic
Select item 184336	NM_005732.4(RAD50):c.204C>T (p.His68=)	RAD50	Single nucleotide variant (synonymous variant)	Nijmegen breakage syndrome-like disorder +3 more	GBenign/Likely benign
Select item 126994	NM_005732.4(RAD50):c.214-44G>A	RAD50	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 128007	NM_005732.4(RAD50):c.260G>A (p.Arg87His)	RAD50 (R87H)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 128012	NM_005732.4(RAD50):c.280A>C (p.Ile94Leu)	RAD50 (I94L)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 128023	NM_005732.4(RAD50):c.379G>A (p.Val127Ile)	RAD50 (V127I)	Single nucleotide variant (missense variant)	Nijmegen breakage syndrome-like disorder +3 more	GConflicting classifications of pathogenicity
Select item 126997	NM_005732.4(RAD50):c.551+85A>G	RAD50	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 231180	NM_005732.4(RAD50):c.561dup (p.Ala188fs)	RAD50 (A188fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 37382	NM_005732.4(RAD50):c.572C>T (p.Thr191Ile)	RAD50 (T191I)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 185010	NM_005732.4(RAD50):c.687del (p.Ser229fs)	RAD50 (S229fs)	Deletion (frameshift variant)	Nijmegen breakage syndrome-like disorder +1 more	GPathogenic/Likely pathogenic
Select item 182819	NM_005732.4(RAD50):c.756+7del	RAD50	Deletion (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 182820	NM_005732.4(RAD50):c.885+11G>A	RAD50	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 37380	NM_005732.4(RAD50):c.980G>A (p.Arg327His)	RAD50 (R327H)	Single nucleotide variant (missense variant)	Nijmegen breakage syndrome-like disorder +3 more	GConflicting classifications of pathogenicity
Select item 126998	NM_005732.4(RAD50):c.1052-38C>T	RAD50	Single nucleotide variant (intron variant)	Familial cancer of breast +2 more	GBenign
Select item 548715	NM_005732.4(RAD50):c.1052-16del	RAD50	Deletion (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 480489	NM_005732.4(RAD50):c.1093C>T (p.Arg365Ter)	RAD50 (R365*)	Single nucleotide variant (nonsense)	Nijmegen breakage syndrome-like disorder +1 more	GPathogenic/Likely pathogenic
Select item 127992	NM_005732.4(RAD50):c.1211A>G (p.Gln404Arg)	RAD50 (Q404R)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 548887	NM_005732.4(RAD50):c.1246-11T>C	RAD50	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 372053	NM_005732.4(RAD50):c.1246-8G>T	RAD50	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 127998	NM_005732.4(RAD50):c.1534G>T (p.Ala512Ser)	RAD50 (A512S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 220719	NM_005732.4(RAD50):c.1875C>G (p.Tyr625Ter)	RAD50 (Y625*)	Single nucleotide variant (nonsense)	Nijmegen breakage syndrome-like disorder +2 more	GPathogenic
Select item 140768	NM_005732.4(RAD50):c.2025C>T (p.Asp675=)	RAD50	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 142438	NM_005732.4(RAD50):c.2091C>T (p.Val697=)	RAD50	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
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 548918	NM_005732.4(RAD50):c.2431CAA[1] (p.Gln812del)	RAD50 (Q812del)	Microsatellite (inframe_deletion)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 143015	NM_005732.4(RAD50):c.2498_2499del (p.Gln833fs)	RAD50 (Q833fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 142441	NM_005732.4(RAD50):c.2670G>A (p.Gln890=)	RAD50	Single nucleotide variant (synonymous variant)	Nijmegen breakage syndrome-like disorder +4 more	GBenign/Likely benign
Select item 128013	NM_005732.4(RAD50):c.2840T>C (p.Ile947Thr)	RAD50 (I947T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 37385	NM_005732.4(RAD50):c.2910C>T (p.Asp970=)	RAD50	Single nucleotide variant (synonymous variant)	Nijmegen breakage syndrome-like disorder +4 more	GBenign/Likely benign
Select item 548815	NM_005732.4(RAD50):c.2923-7T>C	RAD50	Single nucleotide variant (intron variant)	Nijmegen breakage syndrome-like disorder +1 more	GLikely benign
Select item 408355	NM_005732.4(RAD50):c.3029_3032del (p.Thr1010fs)	RAD50 (T1010fs)	Deletion (frameshift variant)	Nijmegen breakage syndrome-like disorder +1 more	GPathogenic/Likely pathogenic
Select item 37381	NM_005732.4(RAD50):c.3036+5G>A	RAD50	Single nucleotide variant (intron variant)	Nijmegen breakage syndrome-like disorder +3 more	GConflicting classifications of pathogenicity
Select item 140911	NM_005732.4(RAD50):c.3037-3T>C	RAD50	Single nucleotide variant (intron variant)	Familial cancer of breast +4 more	GBenign
Select item 183821	NM_005732.4(RAD50):c.3153G>A (p.Leu1051=)	RAD50	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 548748	NM_005732.4(RAD50):c.3164+14del	RAD50	Deletion (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GBenign/Likely benign
Select item 372036	NM_005732.4(RAD50):c.3164+22_3164+25dup	RAD50	Duplication (intron variant)	Nijmegen breakage syndrome-like disorder	GLikely benign
Select item 215509	NM_005732.4(RAD50):c.3165-8T>G	RAD50	Single nucleotide variant (intron variant)	Nijmegen breakage syndrome-like disorder +2 more	GBenign/Likely benign
Select item 127003	NM_005732.4(RAD50):c.3165-4A>T	RAD50	Single nucleotide variant (intron variant)	Familial cancer of breast +3 more	GBenign
Select item 5872	NM_005732.4(RAD50):c.3277C>T (p.Arg1093Ter)	RAD50 (R1093*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 240238	NM_005732.4(RAD50):c.3489_3495del (p.Glu1164fs)	RAD50, TH2-LCR +1 more (E1164fs)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 140930	NM_005732.4(RAD50):c.3790C>T (p.Leu1264Phe)	RAD50, TH2LCRR (L1264F)	Single nucleotide variant (missense variant +1 more)	Nijmegen breakage syndrome-like disorder +3 more	GConflicting classifications of pathogenicity
Select item 183705	NM_005732.4(RAD50):c.3846T>C (p.Tyr1282=)	RAD50, TH2LCRR	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast +4 more	GBenign
Select item 37384	NM_005732.4(RAD50):c.3879C>T (p.Ile1293=)	RAD50, TH2LCRR	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity

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Items: 43