"ITMI"[submitter] AND "ATM"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 133625	NM_000051.4(ATM):c.275A>C (p.Lys92Thr)	ATM (K92T)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 128455	NM_000051.4(ATM):c.378T>A (p.Asp126Glu)	ATM (D126E)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign/Likely benign
Select item 133632	NM_000051.4(ATM):c.400G>A (p.Gly134Ser)	ATM (G134S)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 132685	NM_000051.4(ATM):c.544G>C (p.Val182Leu)	ATM (V182L)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +5 more	GBenign/Likely benign
Select item 133639	NM_000051.4(ATM):c.649A>G (p.Ile217Val)	ATM (I217V)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 133640	NM_000051.4(ATM):c.659C>T (p.Ala220Val)	ATM (A220V)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 127471	NM_000051.4(ATM):c.998C>T (p.Ser333Phe)	ATM (S333F)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +6 more	GConflicting classifications of pathogenicity
Select item 133643	NM_000051.4(ATM):c.1021G>A (p.Val341Ile)	ATM (V341I)	Single nucleotide variant (missense variant)	Familial cancer of breast +5 more	GConflicting classifications of pathogenicity
Select item 127332	NM_000051.4(ATM):c.1229T>C (p.Val410Ala)	ATM (V410A)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +5 more	GConflicting classifications of pathogenicity
Select item 133602	NM_000051.4(ATM):c.1541G>A (p.Gly514Asp)	ATM (G514D)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign/Likely benign
Select item 133603	NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr)	ATM (C532Y)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 133604	NM_000051.4(ATM):c.1636C>G (p.Leu546Val)	ATM (L546V)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +6 more	GBenign/Likely benign
Select item 127342	NM_000051.4(ATM):c.1744T>C (p.Phe582Leu)	ATM (F582L)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +5 more	GConflicting classifications of pathogenicity
Select item 127343	NM_000051.4(ATM):c.1810C>T (p.Pro604Ser)	ATM (P604S)	Single nucleotide variant (missense variant)	not provided +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)	not specified +4 more	GBenign/Likely benign
Select item 133606	NM_000051.4(ATM):c.2336T>C (p.Met779Thr)	ATM (M779T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 133605	NM_000051.4(ATM):c.2353C>T (p.Arg785Cys)	ATM (R785C)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 127349	NM_000051.4(ATM):c.2362A>C (p.Ser788Arg)	ATM (S788R)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +5 more	GBenign/Likely benign
Select item 133607	NM_000051.4(ATM):c.2442C>A (p.Asp814Glu)	ATM (D814E)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign
Select item 133608	NM_000051.4(ATM):c.2449G>C (p.Asp817His)	ATM (D817H)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 133609	NM_000051.4(ATM):c.2574dup (p.Asn859Ter)	ATM (N859*)	Duplication (nonsense)	Ataxia-telangiectasia syndrome +2 more	GPathogenic
Select item 132736	NM_000051.4(ATM):c.2572T>C (p.Phe858Leu)	ATM (F858L)	Single nucleotide variant (missense variant)	Tip-toe gait +7 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	GBenign FDA Recognized database
Select item 133611	NM_000051.4(ATM):c.2873A>G (p.Glu958Gly)	ATM (E958G)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 133612	NM_000051.4(ATM):c.3044A>G (p.Gln1015Arg)	ATM (Q1015R)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3027	NM_000051.4(ATM):c.3118A>G (p.Met1040Val)	ATM (M1040V)	Single nucleotide variant (missense variant)	Familial cancer of breast	GBenign FDA Recognized database
Select item 133613	NM_000051.4(ATM):c.3139A>G (p.Lys1047Glu)	ATM (K1047E)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 132695	NM_000051.4(ATM):c.3161C>G (p.Pro1054Arg)	ATM (P1054R)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 133614	NM_000051.4(ATM):c.3296A>G (p.Asp1099Gly)	ATM (D1099G)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +1 more	GUncertain significance
Select item 133615	NM_000051.4(ATM):c.3383A>G (p.Gln1128Arg)	ATM (Q1128R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 133616	NM_000051.4(ATM):c.3630G>A (p.Met1210Ile)	ATM (M1210I)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +4 more	GConflicting classifications of pathogenicity
Select item 133617	NM_000051.4(ATM):c.3952G>T (p.Val1318Phe)	ATM (V1318F)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 133618	NM_000051.4(ATM):c.3963G>A (p.Met1321Ile)	ATM (M1321I)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +4 more	GConflicting classifications of pathogenicity
Select item 133619	NM_000051.4(ATM):c.4138C>T (p.His1380Tyr)	ATM (H1380Y)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign
Select item 128456	NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe)	ATM (L1420F)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign/Likely benign
Select item 127388	NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys)	ATM (F1463C)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 127389	NM_000051.4(ATM):c.4402G>A (p.Val1468Ile)	ATM (V1468I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 133620	NM_000051.4(ATM):c.4658A>C (p.Glu1553Ala)	ATM (E1553A)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 133621	NM_000051.4(ATM):c.4779A>G (p.Glu1593=)	ATM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 127395	NM_000051.4(ATM):c.4949A>G (p.Asn1650Ser)	ATM (N1650S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 127399	NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg)	ATM (S1691R)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 128458	NM_000051.4(ATM):c.5557G>A (p.Asp1853Asn)	ATM (D1853N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign
Select item 133623	NM_000051.4(ATM):c.5558A>T (p.Asp1853Val)	ATM (D1853V)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 418036	NM_000051.4(ATM):c.5653dup (p.Thr1885fs)	ATM (T1885fs)	Duplication (frameshift variant)	Hereditary breast ovarian cancer syndrome +3 more	GPathogenic
Select item 133624	NM_000051.4(ATM):c.5693G>A (p.Arg1898Gln)	ATM (R1898Q)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +4 more	GBenign/Likely benign
Select item 133626	NM_000051.3(ATM):c.5945A>T (p.Gln1982Leu)	ATM, C11orf65 (Q1982L)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 133627	NM_000051.4(ATM):c.5948= (p.Ser1983=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +2 more)	not specified +3 more	GBenign
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 127422	NM_000051.4(ATM):c.6178C>T (p.Arg2060Cys)	ATM, C11orf65 (R2060C)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 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 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 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 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 133633	NM_000051.4(ATM):c.7757A>G (p.Asn2586Ser)	ATM, C11orf65 (N2586S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 133634	NM_000051.4(ATM):c.7919C>T (p.Thr2640Ile)	C11orf65, ATM (T2640I)	Single nucleotide variant (missense variant +1 more)	Tip-toe gait +5 more	GConflicting classifications of pathogenicity
Select item 133635	NM_000051.4(ATM):c.7988T>C (p.Val2663Ala)	ATM, C11orf65 (V2663A)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +6 more	GConflicting classifications of pathogenicity
Select item 133636	NM_000051.4(ATM):c.8071C>T (p.Arg2691Cys)	ATM, C11orf65 (R2691C)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +4 more	GUncertain significance
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 133637	NM_000051.4(ATM):c.8545C>T (p.Arg2849Ter)	C11orf65, ATM (R2849*)	Single nucleotide variant (nonsense +1 more)	Tip-toe gait +5 more	GPathogenic/Likely pathogenic
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 133642	NM_000051.4(ATM):c.8978G>A (p.Arg2993Gln)	ATM, C11orf65 (R2993Q)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +2 more	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 62