"KCCC/NGS Laboratory, Kuwait Cancer Control Center"[submitter] AND "RA - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 231840	NM_005732.4(RAD50):c.102G>A (p.Leu34=)	RAD50	Single nucleotide variant (synonymous variant)	Familial cancer of breast +1 more	GLikely benign
Select item 2507400	NM_005732.4(RAD50):c.136A>G (p.Ile46Val)	RAD50 (I46V)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 126994	NM_005732.4(RAD50):c.214-44G>A	RAD50	Single nucleotide variant (intron variant)	Familial cancer of breast +2 more	GBenign
Select item 128012	NM_005732.4(RAD50):c.280A>C (p.Ile94Leu)	RAD50 (I94L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 184916	NM_005732.4(RAD50):c.398G>T (p.Cys133Phe)	RAD50 (C133F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 567271	NM_005732.4(RAD50):c.452_453dup (p.Asn152Ter)	RAD50 (N152*)	Duplication (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 259870	NM_005732.4(RAD50):c.551+19G>A	RAD50	Single nucleotide variant (intron variant)	Nijmegen breakage syndrome-like disorder +4 more	GBenign
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 457480	NM_005732.4(RAD50):c.587G>A (p.Arg196His)	RAD50 (R196H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2133317	NM_005732.4(RAD50):c.656A>G (p.Lys219Arg)	RAD50 (K219R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 231137	NM_005732.4(RAD50):c.670C>T (p.Arg224Cys)	RAD50 (R224C)	Single nucleotide variant (missense variant)	Nijmegen breakage syndrome-like disorder +5 more	GUncertain significance
Select item 182820	NM_005732.4(RAD50):c.885+11G>A	RAD50	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign
Select item 126998	NM_005732.4(RAD50):c.1052-38C>T	RAD50	Single nucleotide variant (intron variant)	Nijmegen breakage syndrome-like disorder +2 more	GBenign
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 185432	NM_005732.4(RAD50):c.1932G>A (p.Arg644=)	RAD50	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 140768	NM_005732.4(RAD50):c.2025C>T (p.Asp675=)	RAD50	Single nucleotide variant (synonymous variant)	not specified +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 +3 more	GBenign/Likely benign
Select item 142934	NM_005732.4(RAD50):c.2174G>A (p.Arg725Gln)	RAD50 (R725Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2579728	NM_005732.4(RAD50):c.2221G>C (p.Asp741His)	RAD50 (D741H)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 142441	NM_005732.4(RAD50):c.2670G>A (p.Gln890=)	RAD50	Single nucleotide variant (synonymous variant)	RAD50-related condition +4 more	GBenign/Likely benign
Select item 37385	NM_005732.4(RAD50):c.2910C>T (p.Asp970=)	RAD50	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 140911	NM_005732.4(RAD50):c.3037-3T>C	RAD50	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign
Select item 183821	NM_005732.4(RAD50):c.3153G>A (p.Leu1051=)	RAD50	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 127003	NM_005732.4(RAD50):c.3165-4A>T	RAD50	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign
Select item 185172	NM_005732.4(RAD50):c.3195C>T (p.Asp1065=)	RAD50	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 457449	NM_005732.4(RAD50):c.3420G>A (p.Met1140Ile)	RAD50, TH2-LCR +1 more (M1140I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 527386	NM_005732.4(RAD50):c.3539G>A (p.Arg1180Gln)	TH2LCRR, RAD50 +1 more (R1180Q)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 219874	NM_005732.4(RAD50):c.3660G>A (p.Thr1220=)	TH2LCRR, RAD50 +1 more	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 183705	NM_005732.4(RAD50):c.3846T>C (p.Tyr1282=)	RAD50, TH2LCRR	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign
Select item 2579662	NM_005732.4(RAD50):c.3890C>T (p.Ser1297Leu)	RAD50, TH2LCRR (S1297L)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance

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Items: 30