C0004135[trait identifier] AND "Genome Diagnostics Laboratory, Univers - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3048	NM_000051.4(ATM):c.146C>G (p.Ser49Cys)	ATM (S49C)	Single nucleotide variant (missense variant)	Familial cancer of breast	GBenignFDA Recognized database
Select item 132757	NM_000051.4(ATM):c.162T>C (p.Tyr54=)	ATM	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome +6 more	GConflicting classifications of pathogenicity
Select item 135737	NM_000051.4(ATM):c.186-7C>T	ATM	Single nucleotide variant (intron variant)	Breast and/or ovarian cancer +6 more	GBenign/Likely benign
Select item 183797	NM_000051.4(ATM):c.497-4dup	ATM	Duplication (intron variant)	Ataxia-telangiectasia syndrome +3 more	GBenign/Likely benign
Select item 142522	NM_000051.4(ATM):c.670A>G (p.Lys224Glu)	ATM (K224E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 188359	NM_000051.4(ATM):c.902G>A (p.Gly301Asp)	ATM (G301D)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GUncertain significance
Select item 127471	NM_000051.4(ATM):c.998C>T (p.Ser333Phe)	ATM (S333F)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +6 more	GConflicting classifications of pathogenicity
Select item 135731	NM_000051.4(ATM):c.1027_1030del (p.Glu343fs)	ATM (E343fs)	Deletion (frameshift variant)	Familial cancer of breast +3 more	GPathogenic/Likely pathogenic
Select item 127329	NM_000051.4(ATM):c.1073A>G (p.Asn358Ser)	ATM (N358S)	Single nucleotide variant (missense variant)	Familial cancer of breast	GBenignFDA Recognized database
Select item 142140	NM_000051.4(ATM):c.1176C>G (p.Gly392=)	ATM	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GBenignFDA Recognized database
Select item 136434	NM_000051.4(ATM):c.1380G>C (p.Thr460=)	ATM	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 133602	NM_000051.4(ATM):c.1541G>A (p.Gly514Asp)	ATM (G514D)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +6 more	GBenign/Likely benign
Select item 133604	NM_000051.4(ATM):c.1636C>G (p.Leu546Val)	ATM (L546V)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +6 more	GBenign/Likely benign
Select item 407709	NM_000051.4(ATM):c.1661C>T (p.Thr554Met)	ATM (T554M)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +3 more	GConflicting classifications of pathogenicity
Select item 127342	NM_000051.4(ATM):c.1744T>C (p.Phe582Leu)	ATM (F582L)	Single nucleotide variant (missense variant)	Familial cancer of breast +5 more	GConflicting classifications of pathogenicity
Select item 371548	NM_000051.4(ATM):c.1803-2A>G	ATM	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GLikely pathogenic
Select item 127343	NM_000051.4(ATM):c.1810C>T (p.Pro604Ser)	ATM (P604S)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +6 more	GConflicting classifications of pathogenicity
Select item 128454	NM_000051.4(ATM):c.2119T>C (p.Ser707Pro)	ATM (S707P)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GBenign/Likely benign
Select item 140761	NM_000051.4(ATM):c.2193C>T (p.Tyr731=)	ATM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +6 more	GBenign/Likely benign
Select item 1177614	NM_000051.4(ATM):c.2377-56A>G	ATM	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +3 more	GBenign
Select item 133607	NM_000051.4(ATM):c.2442C>A (p.Asp814Glu)	ATM (D814E)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +6 more	GBenign
Select item 133609	NM_000051.4(ATM):c.2574dup (p.Asn859Ter)	ATM (N859*)	Duplication (nonsense)	Familial cancer of breast +2 more	GPathogenic
Select item 132736	NM_000051.4(ATM):c.2572T>C (p.Phe858Leu)	ATM (F858L)	Single nucleotide variant (missense variant)	not specified +7 more	GBenign/Likely benign
Select item 135745	NM_000051.4(ATM):c.2610C>T (p.Asn870=)	ATM	Single nucleotide variant (synonymous variant)	Familial cancer of breast +4 more	GBenign/Likely benign
Select item 133610	NM_000051.4(ATM):c.2614C>T (p.Pro872Ser)	ATM (P872S)	Single nucleotide variant (missense variant)	Familial cancer of breast	GBenignFDA Recognized database
Select item 140770	NM_000051.4(ATM):c.2685A>G (p.Leu895=)	ATM	Single nucleotide variant (synonymous variant)	Breast and/or ovarian cancer +6 more	GBenign
Select item 439418	NM_000051.4(ATM):c.3078-77C>T	ATM	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +3 more	GBenign
Select item 3027	NM_000051.4(ATM):c.3118A>G (p.Met1040Val)	ATM (M1040V)	Single nucleotide variant (missense variant)	Familial cancer of breast	GBenignFDA Recognized database
Select item 181857	NM_000051.4(ATM):c.3285-9del	ATM	Deletion (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 181858	NM_000051.4(ATM):c.3403-13dup	ATM	Duplication (intron variant)	Ataxia-telangiectasia syndrome +5 more	GBenign/Likely benign
Select item 136441	NM_000051.4(ATM):c.3403-15T>A	ATM	Single nucleotide variant (intron variant)	Breast and/or ovarian cancer +5 more	GBenign/Likely benign
Select item 136442	NM_000051.4(ATM):c.3517T>C (p.Leu1173=)	ATM	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 136443	NM_000051.4(ATM):c.3577-13T>C	ATM	Single nucleotide variant (intron variant)	Familial cancer of breast +3 more	GConflicting classifications of pathogenicity
Select item 127374	NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer)	ATM	Deletion (nonsense)	ATM-related cancer predisposition	GPathogenicFDA Recognized database
Select item 136444	NM_000051.4(ATM):c.3993+5G>T	ATM	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +6 more	GBenign/Likely benign
Select item 132715	NM_000051.4(ATM):c.4042T>C (p.Leu1348=)	ATM	Single nucleotide variant (synonymous variant)	Ataxia-telangiectasia syndrome +6 more	GBenign/Likely benign
Select item 127379	NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr)	ATM (P1354T)	Single nucleotide variant (missense variant)	Hereditary cancer +5 more	GConflicting classifications of pathogenicity
Select item 133619	NM_000051.4(ATM):c.4138C>T (p.His1380Tyr)	ATM (H1380Y)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +6 more	GBenign
Select item 128456	NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe)	ATM (L1420F)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +6 more	GBenign/Likely benign
Select item 127391	NM_000051.4(ATM):c.4420C>G (p.His1474Asp)	ATM (H1474D)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +4 more	GUncertain significance
Select item 135754	NM_000051.4(ATM):c.4473C>T (p.Phe1491=)	ATM	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome +6 more	GConflicting classifications of pathogenicity
Select item 128457	NM_000051.4(ATM):c.4578C>T (p.Pro1526=)	ATM	Single nucleotide variant (synonymous variant)	Ataxia-telangiectasia syndrome +5 more	GBenign/Likely benign
Select item 127394	NM_000051.4(ATM):c.4709T>C (p.Val1570Ala)	ATM (V1570A)	Single nucleotide variant (missense variant)	Familial cancer of breast +5 more	GConflicting classifications of pathogenicity
Select item 181960	NM_000051.4(ATM):c.4724G>A (p.Arg1575His)	ATM (R1575H)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +5 more	GConflicting classifications of pathogenicity
Select item 135758	NM_000051.4(ATM):c.4980C>T (p.Asn1660=)	ATM	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome +6 more	GBenign/Likely benign
Select item 135759	NM_000051.4(ATM):c.5005+7_5005+8del	ATM	Deletion (intron variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 490600	NM_000051.4(ATM):c.5005+18G>A	ATM	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 127399	NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg)	ATM (S1691R)	Single nucleotide variant (missense variant)	Familial cancer of breast +5 more	GConflicting classifications of pathogenicity
Select item 136446	NM_000051.4(ATM):c.5497-15G>C	ATM	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +6 more	GConflicting classifications of pathogenicity
Select item 132706	NM_000051.4(ATM):c.5497-8T>C	ATM	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +5 more	GBenign/Likely benign
Select item 128458	NM_000051.4(ATM):c.5557G>A (p.Asp1853Asn)	ATM (D1853N)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +5 more	GBenign
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 133629	NM_000051.4(ATM):c.6235G>A (p.Val2079Ile)	ATM, C11orf65 (V2079I)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +6 more	GBenign/Likely benign
Select item 522241	NM_000051.4(ATM):c.6347+31del	ATM, C11orf65	Deletion (intron variant)	Ataxia-telangiectasia syndrome +2 more	GBenign/Likely benign
Select item 1284953	NM_000051.4(ATM):c.6529C>T (p.Gln2177Ter)	ATM, C11orf65 (Q2177*)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 140762	NM_000051.4(ATM):c.6572+12G>T	C11orf65, ATM	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +6 more	GBenign
Select item 127430	NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe)	ATM, C11orf65 (L2307F)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 127433	NM_000051.4(ATM):c.6988C>G (p.Leu2330Val)	ATM, C11orf65 (L2330V)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +6 more	GConflicting classifications of pathogenicity
Select item 127450	NM_000051.4(ATM):c.7788+8G>T	ATM, C11orf65	Single nucleotide variant (intron variant)	Familial cancer of breast +5 more	GConflicting classifications of pathogenicity
Select item 127452	NM_000051.4(ATM):c.7928-10T>C	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome +4 more	GConflicting classifications of pathogenicity
Select item 136432	NM_000051.4(ATM):c.8269-14A>T	C11orf65, ATM	Single nucleotide variant (intron variant)	not specified +6 more	GBenign/Likely benign
Select item 140769	NM_000051.4(ATM):c.8419-19A>G	ATM, C11orf65	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +6 more	GBenign/Likely benign
Select item 135782	NM_000051.4(ATM):c.8592C>T (p.Tyr2864=)	C11orf65, ATM	Single nucleotide variant (synonymous variant +1 more)	Ataxia-telangiectasia syndrome +5 more	GBenign/Likely benign
Select item 132696	NM_000051.4(ATM):c.8786+8A>C	ATM, C11orf65	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +5 more	GBenign/Likely benign
Select item 219587	NM_000051.4(ATM):c.8988-1G>A	C11orf65, ATM	Single nucleotide variant (splice acceptor variant +1 more)	Familial cancer of breast +3 more	GPathogenic/Likely pathogenic

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Items: 65