"KCCC/NGS Laboratory, Kuwait Cancer Control Center"[submitter] AND "C1 - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 419402	NM_000051.4(ATM):c.5766TTC[1] (p.Ser1924del)	ATM, C11orf65 (S1924del)	Microsatellite (inframe_indel +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 128459	NM_000051.4(ATM):c.5793T>C (p.Ala1931=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 127413	NM_000051.4(ATM):c.5882A>G (p.Tyr1961Cys)	ATM, C11orf65 (Y1961C)	Single nucleotide variant (missense variant +1 more)	Breast carcinoma +5 more	GConflicting classifications of pathogenicity
Select item 573153	NM_000051.4(ATM):c.5972A>G (p.Glu1991Gly)	ATM, C11orf65 (E1991G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 133628	NM_000051.4(ATM):c.6088A>G (p.Ile2030Val)	ATM, C11orf65 (I2030V)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GBenign/Likely benign
Select item 388082	NM_000051.4(ATM):c.6095+6T>C	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome +3 more	GLikely benign
Select item 140766	NM_000051.4(ATM):c.6095+15T>C	ATM, C11orf65	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +6 more	GBenign
Select item 127417	NM_000051.4(ATM):c.6100C>T (p.Arg2034Ter)	C11orf65, ATM (R2034*)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 181975	NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys)	ATM, C11orf65 (E2052K)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2506973	NM_000051.4(ATM):c.6178_6182del (p.Arg2060fs)	ATM, C11orf65 (R2060fs)	Deletion (frameshift variant +1 more)	Familial cancer of breast	GPathogenic
Select item 230510	NM_000051.4(ATM):c.6194T>C (p.Ile2065Thr)	C11orf65, ATM (I2065T)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GUncertain significance
Select item 133629	NM_000051.4(ATM):c.6235G>A (p.Val2079Ile)	ATM, C11orf65 (V2079I)	Single nucleotide variant (missense variant +1 more)	Breast and/or ovarian cancer +6 more	GBenign/Likely benign
Select item 135769	NM_000051.4(ATM):c.6333T>C (p.His2111=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 233776	NM_000051.4(ATM):c.6338C>G (p.Thr2113Ser)	ATM, C11orf65 (T2113S)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 566582	NM_000051.4(ATM):c.6419T>G (p.Phe2140Cys)	ATM, C11orf65 (F2140C)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +2 more	GUncertain significance
Select item 133630	NM_000051.4(ATM):c.6437G>C (p.Ser2146Thr)	C11orf65, ATM (S2146T)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +6 more	GConflicting classifications of pathogenicity
Select item 231615	NM_000051.4(ATM):c.6443A>G (p.Lys2148Arg)	ATM, C11orf65 (K2148R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 490665	NM_000051.4(ATM):c.6572+12G>A	ATM, C11orf65	Single nucleotide variant (intron variant)	Familial cancer of breast +3 more	GBenign/Likely benign
Select item 140762	NM_000051.4(ATM):c.6572+12G>T	C11orf65, ATM	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +6 more	GBenign
Select item 826547	NM_000051.4(ATM):c.6672_6680delinsCTC (p.Met2224_Arg2227delinsIleSer)	ATM, C11orf65	Indel (inframe_indel +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 439421	NM_000051.4(ATM):c.6808-22C>A	ATM, C11orf65	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 133631	NM_000051.4(ATM):c.6995T>C (p.Leu2332Pro)	ATM, C11orf65 (L2332P)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GBenign FDA Recognized database
Select item 136429	NM_000051.4(ATM):c.7044G>A (p.Thr2348=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 861763	NM_000051.4(ATM):c.7082T>C (p.Leu2361Pro)	ATM, C11orf65 (L2361P)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +2 more	GUncertain significance
Select item 236770	NM_000051.4(ATM):c.7317A>G (p.Val2439=)	C11orf65, ATM	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast +3 more	GBenign/Likely benign
Select item 229889	NM_000051.4(ATM):c.7468C>T (p.Leu2490Phe)	ATM, C11orf65 (L2490F)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +4 more	GUncertain significance
Select item 136431	NM_000051.4(ATM):c.7630-17T>C	C11orf65, ATM	Single nucleotide variant (intron variant)	Breast and/or ovarian cancer +6 more	GBenign/Likely benign
Select item 142700	NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)	ATM, C11orf65 (V2716A)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 481155	NM_000051.4(ATM):c.8151+5G>A	C11orf65, ATM	Single nucleotide variant (intron variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 822476	NM_000051.4(ATM):c.8477A>G (p.Asn2826Ser)	ATM, C11orf65 (N2826S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 221124	NM_000051.4(ATM):c.8520G>C (p.Leu2840Phe)	C11orf65, ATM (L2840F)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +3 more	GUncertain significance
Select item 142055	NM_000051.4(ATM):c.8546G>A (p.Arg2849Gln)	ATM, C11orf65 (R2849Q)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +3 more	GConflicting classifications of pathogenicity
Select item 2506972	NM_000051.4(ATM):c.8585-3_8585-1delinsT	ATM, C11orf65	Indel (splice acceptor variant +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 135785	NM_000051.4(ATM):c.8730C>G (p.Leu2910=)	C11orf65, ATM	Single nucleotide variant (synonymous variant +1 more)	not specified +5 more	GBenign/Likely benign
Select item 421949	NM_000051.4(ATM):c.8762C>T (p.Thr2921Met)	ATM, C11orf65 (T2921M)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +3 more	GUncertain significance
Select item 132696	NM_000051.4(ATM):c.8786+8A>C	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome +5 more	GBenign/Likely benign
Select item 414606	NM_000051.4(ATM):c.8850+10T>C	ATM, C11orf65	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 236795	NM_000051.4(ATM):c.8993T>C (p.Ile2998Thr)	ATM, C11orf65 (I2998T)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +3 more	GConflicting classifications of pathogenicity

ClinVar

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Items: 38