"Quest Diagnostics Nichols Institute San Juan Capistrano"[submitter] A - ClinVar

Search results

Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 230743	NM_000051.4(ATM):c.5798G>A (p.Trp1933Ter)	ATM, C11orf65 (W1933*)	Single nucleotide variant (nonsense +1 more)	Familial cancer of breast +3 more	GPathogenic/Likely pathogenic
Select item 127412	NM_000051.4(ATM):c.5821G>C (p.Val1941Leu)	ATM, C11orf65 (V1941L)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 141404	NM_000051.4(ATM):c.5908C>T (p.Gln1970Ter)	ATM, C11orf65 (Q1970*)	Single nucleotide variant (nonsense +1 more)	not provided +4 more	GPathogenic
Select item 127415	NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr)	ATM, C11orf65 (K1992T)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +7 more	GConflicting classifications of pathogenicity
Select item 127416	NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg)	ATM, C11orf65 (G2023R)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +6 more	GConflicting classifications of pathogenicity
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 1809583	NM_000051.4(ATM):c.6128G>A (p.Gly2043Asp)	ATM, C11orf65 (G2043D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 230225	NM_000051.4(ATM):c.6153C>T (p.Leu2051=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
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 127421	NM_000051.4(ATM):c.6176C>T (p.Thr2059Ile)	ATM, C11orf65 (T2059I)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +6 more	GConflicting classifications of pathogenicity
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 184079	NM_000051.4(ATM):c.6234C>T (p.Ser2078=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
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 407533	NM_000051.4(ATM):c.6247G>A (p.Gly2083Arg)	ATM, C11orf65 (G2083R)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +3 more	GUncertain significance
Select item 181863	NM_000051.4(ATM):c.6348-8T>C	ATM, C11orf65	Single nucleotide variant (intron variant)	Familial cancer of breast +4 more	GBenign/Likely benign
Select item 186642	NM_000051.4(ATM):c.6382T>C (p.Leu2128=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Ataxia-telangiectasia syndrome +4 more	GConflicting classifications of pathogenicity
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 642444	NM_000051.4(ATM):c.6443A>C (p.Lys2148Thr)	ATM, C11orf65 (K2148T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 220531	NM_000051.4(ATM):c.6503C>T (p.Ser2168Leu)	ATM, C11orf65 (S2168L)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +4 more	GConflicting classifications of pathogenicity
Select item 186221	NM_000051.4(ATM):c.6537T>G (p.Ile2179Met)	ATM, C11orf65 (I2179M)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +5 more	GConflicting classifications of pathogenicity
Select item 127425	NM_000051.4(ATM):c.6543G>T (p.Glu2181Asp)	ATM, C11orf65 (E2181D)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 407690	NM_000051.4(ATM):c.6562C>A (p.Leu2188Ile)	ATM, C11orf65 (L2188I)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 135774	NM_000051.4(ATM):c.6795C>T (p.Phe2265=)	C11orf65, ATM	Single nucleotide variant (synonymous variant +1 more)	Breast and/or ovarian cancer +5 more	GConflicting classifications of pathogenicity
Select item 127428	NM_000051.4(ATM):c.6860G>C (p.Gly2287Ala)	ATM, C11orf65 (G2287A)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 127430	NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe)	C11orf65, ATM (L2307F)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +4 more	GConflicting classifications of pathogenicity
Select item 141676	NM_000051.4(ATM):c.6975G>A (p.Ala2325=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 127433	NM_000051.4(ATM):c.6988C>G (p.Leu2330Val)	C11orf65, ATM (L2330V)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +6 more	GConflicting classifications of pathogenicity
Select item 140818	NM_000051.4(ATM):c.6997dup	C11orf65, ATM (T2333fs)	Duplication (frameshift variant +1 more)	Familial cancer of breast	GPathogenic FDA Recognized database
Select item 127435	NM_000051.4(ATM):c.6998C>T (p.Thr2333Ile)	ATM, C11orf65 (T2333I)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +4 more	GConflicting classifications of pathogenicity
Select item 186867	NM_000051.4(ATM):c.7004C>T (p.Thr2335Ile)	ATM, C11orf65 (T2335I)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 184489	NM_000051.4(ATM):c.7062G>A (p.Ala2354=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Ataxia-telangiectasia syndrome +4 more	GBenign/Likely benign
Select item 186868	NM_000051.4(ATM):c.7174C>T (p.Arg2392Trp)	ATM, C11orf65 (R2392W)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 127438	NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser)	ATM, C11orf65 (T2396S)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 215593	NM_000051.4(ATM):c.7224G>A (p.Ser2408=)	C11orf65, ATM	Single nucleotide variant (synonymous variant +1 more)	Ataxia-telangiectasia syndrome +4 more	GBenign/Likely benign
Select item 3023	NM_000051.4(ATM):c.7271T>G (p.Val2424Gly)	ATM, C11orf65 (V2424G)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GPathogenic FDA Recognized database
Select item 127440	NM_000051.4(ATM):c.7313C>T (p.Thr2438Ile)	ATM, C11orf65 (T2438I)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +5 more	GConflicting classifications of pathogenicity
Select item 142211	NM_000051.4(ATM):c.7328G>A (p.Arg2443Gln)	ATM, C11orf65 (R2443Q)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +4 more	GConflicting classifications of pathogenicity
Select item 140905	NM_000051.4(ATM):c.7358G>A (p.Arg2453His)	ATM, C11orf65 (R2453H)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 185845	NM_000051.4(ATM):c.7375C>T (p.Arg2459Cys)	C11orf65, ATM (R2459C)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +5 more	GConflicting classifications of pathogenicity
Select item 181982	NM_000051.4(ATM):c.7375C>G (p.Arg2459Gly)	ATM, C11orf65 (R2459G)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +3 more	GUncertain significance
Select item 216230	NM_000051.4(ATM):c.7382G>A (p.Arg2461His)	ATM, C11orf65 (R2461H)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +4 more	GUncertain significance
Select item 127443	NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg)	ATM, C11orf65 (C2464R)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 127446	NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg)	ATM, C11orf65 (L2492R)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 181839	NM_000051.4(ATM):c.7494T>C (p.Ser2498=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 141647	NM_000051.4(ATM):c.7517_7520del	ATM, C11orf65	Microsatellite (splice acceptor variant +2 more)	Hereditary breast ovarian cancer syndrome +4 more	GPathogenic
Select item 181983	NM_000051.4(ATM):c.7552C>T (p.Pro2518Ser)	ATM, C11orf65 (P2518S)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +4 more	GUncertain significance
Select item 140910	NM_000051.4(ATM):c.7592T>C (p.Met2531Thr)	ATM, C11orf65 (M2531T)	Single nucleotide variant (non-coding transcript variant +2 more)	ATM-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 141579	NM_000051.4(ATM):c.7618G>A (p.Val2540Ile)	ATM, C11orf65 (V2540I)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 127448	NM_000051.4(ATM):c.7740A>C (p.Arg2580Ser)	C11orf65, ATM (R2580S)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +5 more	GConflicting classifications of pathogenicity
Select item 127449	NM_000051.4(ATM):c.7778A>G (p.Gln2593Arg)	ATM, C11orf65 (Q2593R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 127450	NM_000051.4(ATM):c.7788+8G>T	ATM, C11orf65	Single nucleotide variant (intron variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 220064	NM_000051.4(ATM):c.7880A>G (p.Tyr2627Cys)	ATM, C11orf65 (Y2627C)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 127451	NM_000051.4(ATM):c.7897T>G (p.Leu2633Val)	C11orf65, ATM (L2633V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 141233	NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter)	ATM, C11orf65 (W2638*)	Single nucleotide variant (nonsense +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 127452	NM_000051.4(ATM):c.7928-10T>C	ATM, C11orf65	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 127454	NM_000051.4(ATM):c.8113G>A (p.Val2705Ile)	ATM, C11orf65 (V2705I)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 220257	NM_000051.4(ATM):c.8120C>G (p.Ser2707Cys)	ATM, C11orf65 (S2707C)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +4 more	GUncertain significance
Select item 127456	NM_000051.4(ATM):c.8156G>A (p.Arg2719His)	ATM, C11orf65 (R2719H)	Single nucleotide variant (missense variant +1 more)	Breast and/or ovarian cancer +5 more	GConflicting classifications of pathogenicity
Select item 135780	NM_000051.4(ATM):c.8266A>T (p.Lys2756Ter)	ATM, C11orf65 (K2756*)	Single nucleotide variant (nonsense +1 more)	Ataxia-telangiectasia syndrome +4 more	GPathogenic/Likely pathogenic
Select item 233708	NM_000051.4(ATM):c.8311A>G (p.Thr2771Ala)	C11orf65, ATM (T2771A)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +2 more	GUncertain significance
Select item 181866	NM_000051.4(ATM):c.8418+5_8418+8del	ATM, C11orf65	Microsatellite (splice donor variant +1 more)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 133638	NM_000051.4(ATM):c.8495G>A (p.Arg2832His)	ATM, C11orf65 (R2832H)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 184399	NM_000051.4(ATM):c.8556T>C (p.Tyr2852=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 142249	NM_000051.4(ATM):c.8558C>T (p.Thr2853Met)	ATM, C11orf65 (T2853M)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity OUncertain significance
Select item 142147	NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys)	ATM, C11orf65 (R2854C)	Single nucleotide variant (missense variant +1 more)	Astrocytoma IDH-mutant +7 more	GConflicting classifications of pathogenicity OUncertain significance
Select item 236789	NM_000051.4(ATM):c.8584+10T>C	ATM, C11orf65	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 181844	NM_000051.4(ATM):c.8629T>C (p.Leu2877=)	C11orf65, ATM	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 133641	NM_000051.4(ATM):c.8734A>G (p.Arg2912Gly)	ATM, C11orf65 (R2912G)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance FDA Recognized database
Select item 231464	NM_000051.4(ATM):c.8737G>C (p.Asp2913His)	ATM, C11orf65 (D2913H)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +3 more	GUncertain significance
Select item 407626	NM_000051.4(ATM):c.8805G>A (p.Met2935Ile)	ATM, C11orf65 (M2935I)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +3 more	GUncertain significance
Select item 141968	NM_000051.4(ATM):c.8810T>C (p.Val2937Ala)	ATM, C11orf65 (V2937A)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 232777	NM_000051.4(ATM):c.8860T>C (p.Tyr2954His)	ATM, C11orf65 (Y2954H)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +4 more	GUncertain significance
Select item 135787	NM_000051.4(ATM):c.8921C>T (p.Pro2974Leu)	ATM, C11orf65 (P2974L)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 628618	NM_000051.4(ATM):c.8944C>T (p.Pro2982Ser)	C11orf65, ATM (P2982S)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +2 more	GConflicting classifications of pathogenicity
Select item 127468	NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp)	ATM, C11orf65 (G3029D)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 2685423	GRCh37/hg19 11q22.3(chr11:108250849-108340593)x1	C11orf65	Copy number loss	not provided	GUncertain significance
Select item 1807688	GRCh37/hg19 11q22.1-22.3(chr11:101371503-109306519)x1	ACAT1, ALKBH8 +47 more	Copy number loss	not provided	GPathogenic
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	AASDHPPT, ACAT1 +182 more	Copy number loss	not provided	GUncertain significance
Select item 815468	GRCh37/hg19 11q22.3-23.3(chr11:105699599-114524876)x1	AASDHPPT, ACAT1 +68 more	Copy number loss	not provided	GPathogenic
Select item 815462	GRCh37/hg19 11q22.3-23.2(chr11:103320065-114349787)x1	AASDHPPT, ACAT1 +76 more	Copy number loss	not provided	GPathogenic
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 563859	GRCh37/hg19 11q22.3(chr11:108067009-108861566)x3	C11orf65, EXPH5 +4 more	Copy number gain	not provided	GUncertain significance
Select item 563809	GRCh37/hg19 11q22.3(chr11:108206156-108276555)x1	C11orf65, ATM	Copy number loss	not provided	GUncertain significance

ClinVar

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Items: 84