"Color Diagnostics, LLC DBA Color Health"[submitter] AND "ATM"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 224517	NM_000051.4(ATM):c.-30-1G>T	ATM	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 490408	NM_000051.4(ATM):c.-19T>C	ATM	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 490407	NM_000051.4(ATM):c.-18G>A	ATM	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GBenign/Likely benign
Select item 490406	NM_000051.4(ATM):c.-15C>T	ATM	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 560750	NM_000051.4(ATM):c.-14T>C	ATM	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 631429	NM_000051.4(ATM):c.-2C>T	ATM	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 918823	NM_000051.4(ATM):c.-1C>T	ATM	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 187213	NM_000051.4(ATM):c.1A>C (p.Met1Leu)	ATM (M1L)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +2 more	GPathogenic/Likely pathogenic
Select item 181942	NM_000051.4(ATM):c.1A>G (p.Met1Val)	ATM (M1V)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +3 more	GPathogenic/Likely pathogenic
Select item 187275	NM_000051.4(ATM):c.2T>C (p.Met1Thr)	ATM (M1T)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GPathogenic FDA Recognized database
Select item 188901	NM_000051.4(ATM):c.3G>A (p.Met1Ile)	ATM (M1I)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 489566	NM_000051.4(ATM):c.5G>A (p.Ser2Asn)	ATM (S2N)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 922075	NM_000051.4(ATM):c.6T>A (p.Ser2Arg)	ATM (S2R)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +1 more	GUncertain significance
Select item 490760	NM_000051.4(ATM):c.9A>G (p.Leu3=)	ATM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 453356	NM_000051.4(ATM):c.11T>C (p.Val4Ala)	ATM (V4A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 234089	NM_000051.4(ATM):c.15dup (p.Asn6Ter)	ATM (N6*)	Duplication (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 185977	NM_000051.4(ATM):c.37C>T (p.Arg13Cys)	ATM (R13C)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +4 more	GUncertain significance
Select item 188171	NM_000051.4(ATM):c.38G>A (p.Arg13His)	ATM (R13H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 183841	NM_000051.4(ATM):c.42A>G (p.Gln14=)	ATM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 232822	NM_000051.4(ATM):c.43del (p.Gln14_Leu15insTer)	ATM	Deletion (nonsense)	not provided +3 more	GPathogenic
Select item 407509	NM_000051.4(ATM):c.48A>G (p.Glu16=)	ATM	Single nucleotide variant (synonymous variant)	Familial cancer of breast +3 more	GBenign/Likely benign
Select item 922974	NM_000051.4(ATM):c.49C>G (p.His17Asp)	ATM (H17D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 229721	NM_000051.4(ATM):c.49C>A (p.His17Asn)	ATM (H17N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 921708	NM_000051.4(ATM):c.50A>G (p.His17Arg)	ATM (H17R)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 629611	NM_000051.4(ATM):c.56G>C (p.Arg19Thr)	ATM (R19T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 418021	NM_000051.4(ATM):c.56G>A (p.Arg19Lys)	ATM (R19K)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 585458	NM_000051.4(ATM):c.61A>G (p.Thr21Ala)	ATM (T21A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 524446	NM_000051.4(ATM):c.63A>G (p.Thr21=)	ATM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 1152663	NM_000051.4(ATM):c.67C>A (p.Arg23=)	ATM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 489580	NM_000051.4(ATM):c.67C>G (p.Arg23Gly)	ATM (R23G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 232248	NM_000051.4(ATM):c.67C>T (p.Arg23Ter)	ATM (R23*)	Single nucleotide variant (nonsense)	Familial cancer of breast +3 more	GPathogenic
Select item 855706	NM_000051.4(ATM):c.68G>C (p.Arg23Pro)	ATM (R23P)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +1 more	GUncertain significance
Select item 127429	NM_000051.4(ATM):c.68G>A (p.Arg23Gln)	ATM (R23Q)	Single nucleotide variant (missense variant)	Familial cancer of breast +5 more	GUncertain significance
Select item 231695	NM_000051.4(ATM):c.69A>G (p.Arg23=)	ATM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 629248	NM_000051.4(ATM):c.70A>G (p.Lys24Glu)	ATM (K24E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 407733	NM_000051.4(ATM):c.71A>T (p.Lys24Met)	ATM (K24M)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +1 more	GUncertain significance
Select item 188125	NM_000051.4(ATM):c.72+1G>A	ATM	Single nucleotide variant (splice donor variant)	Familial cancer of breast +3 more	GPathogenic/Likely pathogenic
Select item 655274	NM_000051.4(ATM):c.72+2T>C	ATM	Single nucleotide variant (splice donor variant)	Familial cancer of breast +2 more	GPathogenic/Likely pathogenic
Select item 631063	NM_000051.4(ATM):c.72+16A>C	ATM	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 490693	NM_000051.4(ATM):c.73-15C>A	ATM	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome +2 more	GLikely benign
Select item 926673	NM_000051.4(ATM):c.73-14C>G	ATM	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome +1 more	GLikely benign
Select item 927466	NM_000051.4(ATM):c.73-4dup	ATM	Duplication (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 627943	NM_000051.4(ATM):c.73-4T>C	ATM	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 629036	NM_000051.4(ATM):c.73-3del	ATM	Deletion (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 628283	NM_000051.4(ATM):c.75_78del	ATM	Microsatellite (splice acceptor variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 181944	NM_000051.4(ATM):c.76G>C (p.Glu26Gln)	ATM (E26Q)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 186439	NM_000051.4(ATM):c.78A>T (p.Glu26Asp)	ATM (E26D)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 925451	NM_000051.4(ATM):c.84_85del (p.Lys29fs)	ATM (K29fs)	Microsatellite (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 216237	NM_000051.4(ATM):c.93G>C (p.Lys31Asn)	ATM (K31N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 142913	NM_000051.4(ATM):c.94C>T (p.Arg32Cys)	ATM (R32C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 181945	NM_000051.4(ATM):c.95G>A (p.Arg32His)	ATM (R32H)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GConflicting classifications of pathogenicity
Select item 386589	NM_000051.4(ATM):c.97C>T (p.Leu33=)	ATM	Single nucleotide variant (synonymous variant)	Ataxia-telangiectasia syndrome +4 more	GBenign/Likely benign
Select item 485215	NM_000051.4(ATM):c.100A>G (p.Ile34Val)	ATM (I34V)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +1 more	GUncertain significance
Select item 919030	NM_000051.4(ATM):c.103C>G (p.Arg35Gly)	ATM (R35G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 183805	NM_000051.4(ATM):c.103C>A (p.Arg35=)	ATM	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome +6 more	GBenign/Likely benign
Select item 3025	NM_000051.4(ATM):c.103C>T (p.Arg35Ter)	ATM (R35*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 231729	NM_000051.4(ATM):c.104G>A (p.Arg35Gln)	ATM (R35Q)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +3 more	GUncertain significance
Select item 414539	NM_000051.4(ATM):c.105A>C (p.Arg35=)	ATM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 569423	NM_000051.4(ATM):c.107A>G (p.Asp36Gly)	ATM (D36G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 184988	NM_000051.4(ATM):c.115A>G (p.Thr39Ala)	ATM (T39A)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 422792	NM_000051.4(ATM):c.118A>G (p.Ile40Val)	ATM (I40V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1172213	NM_000051.4(ATM):c.119T>C (p.Ile40Thr)	ATM (I40T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 407674	NM_000051.4(ATM):c.121A>G (p.Lys41Glu)	ATM (K41E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 127335	NM_000051.4(ATM):c.125A>G (p.His42Arg)	ATM (H42R)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 186855	NM_000051.4(ATM):c.127C>G (p.Leu43Val)	ATM (L43V)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 186471	NM_000051.4(ATM):c.131A>G (p.Asp44Gly)	ATM (D44G)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +4 more	GConflicting classifications of pathogenicity
Select item 490422	NM_000051.4(ATM):c.132T>C (p.Asp44=)	ATM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 819002	NM_000051.4(ATM):c.135dup (p.His46fs)	ATM (H46fs)	Duplication (frameshift variant)	Ataxia-telangiectasia syndrome +1 more	GPathogenic
Select item 140832	NM_000051.4(ATM):c.133C>T (p.Arg45Trp)	ATM (R45W)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 188157	NM_000051.4(ATM):c.134G>A (p.Arg45Gln)	ATM (R45Q)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 391094	NM_000051.4(ATM):c.135G>A (p.Arg45=)	ATM	Single nucleotide variant (synonymous variant)	Ataxia-telangiectasia syndrome +3 more	GBenign/Likely benign
Select item 220631	NM_000051.4(ATM):c.138T>C (p.His46=)	ATM	Single nucleotide variant (synonymous variant)	Ataxia-telangiectasia syndrome +4 more	GBenign/Likely benign
Select item 135733	NM_000051.4(ATM):c.146C>T (p.Ser49Phe)	ATM (S49F)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +2 more	GUncertain significance
Select item 3048	NM_000051.4(ATM):c.146C>G (p.Ser49Cys)	ATM (S49C)	Single nucleotide variant (missense variant)	Familial cancer of breast	GBenign FDA Recognized database
Select item 232861	NM_000051.4(ATM):c.147C>T (p.Ser49=)	ATM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 578183	NM_000051.4(ATM):c.149A>G (p.Lys50Arg)	ATM (K50R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 231299	NM_000051.4(ATM):c.157A>C (p.Lys53Gln)	ATM (K53Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 414555	NM_000051.4(ATM):c.159A>G (p.Lys53=)	ATM	Single nucleotide variant (synonymous variant)	Familial cancer of breast +2 more	GBenign/Likely benign
Select item 132757	NM_000051.4(ATM):c.162T>C (p.Tyr54=)	ATM	Single nucleotide variant (synonymous variant)	Familial cancer of breast +6 more	GConflicting classifications of pathogenicity
Select item 1171797	NM_000051.4(ATM):c.167A>C (p.Asn56Thr)	ATM (N56T)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +1 more	GUncertain significance
Select item 1161782	NM_000051.4(ATM):c.168T>C (p.Asn56=)	ATM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 490433	NM_000051.4(ATM):c.172del (p.Asp58fs)	ATM (D58fs)	Deletion (frameshift variant)	Ataxia-telangiectasia syndrome +1 more	GPathogenic
Select item 127341	NM_000051.4(ATM):c.170G>A (p.Trp57Ter)	ATM (W57*)	Single nucleotide variant (nonsense)	Familial cancer of breast +4 more	GPathogenic
Select item 233820	NM_000051.4(ATM):c.172G>T (p.Asp58Tyr)	ATM (D58Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 920128	NM_000051.4(ATM):c.173A>G (p.Asp58Gly)	ATM (D58G)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +1 more	GUncertain significance
Select item 233566	NM_000051.4(ATM):c.175G>T (p.Ala59Ser)	ATM (A59S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 184276	NM_000051.4(ATM):c.180T>G (p.Val60=)	ATM	Single nucleotide variant (synonymous variant)	Familial cancer of breast +3 more	GConflicting classifications of pathogenicity
Select item 231859	NM_000051.4(ATM):c.184A>G (p.Arg62Gly)	ATM (R62G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 490441	NM_000051.4(ATM):c.185+6C>G	ATM	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome +1 more	GConflicting classifications of pathogenicity
Select item 414614	NM_000051.4(ATM):c.185+8A>G	ATM	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 513668	NM_000051.4(ATM):c.185+10T>C	ATM	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 560753	NM_000051.4(ATM):c.185+16T>C	ATM	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 385043	NM_000051.4(ATM):c.186-19G>A	ATM	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 490443	NM_000051.4(ATM):c.186-18C>T	ATM	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome +2 more	GLikely benign
Select item 489518	NM_000051.4(ATM):c.186-17A>G	ATM	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +6 more	GBenign
Select item 490442	NM_000051.4(ATM):c.186-8del	ATM	Deletion (intron variant)	Ataxia-telangiectasia syndrome +3 more	GBenign/Likely benign
Select item 926674	NM_000051.4(ATM):c.186-10T>C	ATM	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome +2 more	GLikely benign
Select item 135737	NM_000051.4(ATM):c.186-7C>T	ATM	Single nucleotide variant (intron variant)	Familial cancer of breast +6 more	GBenign/Likely benign
Select item 229828	NM_000051.4(ATM):c.186A>G (p.Arg62=)	ATM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 482687	NM_000051.4(ATM):c.189T>C (p.Phe63=)	ATM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign

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