472[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	AASDHPPT, ACAT1 +387 more	Copy number loss	See cases	GPathogenic
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	LOC130006930, LOC130006931 +1199 more	Copy number gain	See cases	GPathogenic
Select item 694625	NC_000011.10:g.108151767_108183227del	ATM, LOC128772354 +2 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 802718	NC_000011.10:g.108222768C>T	ATM	Single nucleotide variant (genic upstream transcript variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 879221	NM_000051.3(ATM):c.-398G>A	ATM	Single nucleotide variant	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 417409	NC_000011.10:g.(?_108222832)_(108369099_?)del	LOC128772356, LOC129390352 +8 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 434433	NM_000051.3(ATM):c.-371G>C	ATM	Single nucleotide variant	Familial cancer of breast +2 more	GUncertain significance
Select item 302233	NM_000051.3(ATM):c.-328A>T	ATM	Single nucleotide variant	Ataxia-telangiectasia syndrome +1 more	GLikely benign
Select item 1336095	NM_000051.3(ATM):c.-327T>C	ATM	Single nucleotide variant	not specified	GUncertain significance
Select item 1337132	NM_000051.3(ATM):c.-282T>G	ATM	Single nucleotide variant	not specified	GUncertain significance
Select item 302234	NM_000051.3(ATM):c.-274G>A	ATM	Single nucleotide variant	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 1337835	NM_000051.3(ATM):c.-241G>C	ATM	Single nucleotide variant	not specified	GUncertain significance
Select item 302235	NM_000051.3(ATM):c.-235delC	ATM	Deletion	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 302236	NM_000051.3(ATM):c.-229C>G	ATM	Single nucleotide variant	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 302237	NM_000051.3(ATM):c.-222T>A	ATM	Single nucleotide variant	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 302238	NM_000051.3(ATM):c.-218T>A	ATM	Single nucleotide variant	not specified +1 more	GUncertain significance
Select item 302239	NM_000051.3(ATM):c.-186G>A	ATM, LOC130006700	Single nucleotide variant	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 880418	NM_000051.3(ATM):c.-174A>C	ATM, LOC130006700	Single nucleotide variant	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 1337970	NM_000051.3(ATM):c.-171G>A	ATM, LOC130006700	Single nucleotide variant	not specified	GUncertain significance
Select item 1337318	NM_000051.4(ATM):c.-147T>C	ATM, LOC130006700	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 1337752	NM_000051.4(ATM):c.-127A>G	ATM, LOC130006700	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 553892	NM_000051.4(ATM):c.-111_-109delinsAC	ATM, LOC130006700	Indel (5 prime UTR variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 302240	NM_000051.4(ATM):c.-111G>A	ATM, LOC130006700	Single nucleotide variant (5 prime UTR variant)	Ataxia-telangiectasia syndrome +1 more	GBenign
Select item 302241	NM_000051.4(ATM):c.-94G>A	ATM, LOC130006700	Single nucleotide variant (5 prime UTR variant)	Ataxia-telangiectasia syndrome +1 more	GUncertain significance
Select item 302242	NM_000051.4(ATM):c.-74G>A	LOC130006700, ATM	Single nucleotide variant (5 prime UTR variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 388798	NM_000051.4(ATM):c.-47A>G	ATM	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 379271	NM_000051.4(ATM):c.-43T>G	ATM	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 389599	NM_000051.4(ATM):c.-42C>T	ATM	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 422472	NM_000051.4(ATM):c.-34A>G	ATM	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 234796	NM_000051.4(ATM):c.-32_-31dup	ATM	Duplication (5 prime UTR variant)	not specified	GUncertain significance
Select item 1256954	NM_000051.4(ATM):c.-31+4G>C	ATM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1692620	NM_000051.4(ATM):c.-31+6_-31+7insTGT	ATM	Insertion (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 507788	NM_000051.4(ATM):c.-31+6G>T	ATM	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 516454	NM_000051.4(ATM):c.-31+8C>T	ATM	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 509301	NM_000051.4(ATM):c.-31+12G>A	ATM	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2576385	NM_000051.4(ATM):c.-31+238G>A	ATM	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 550420	NM_000051.4(ATM):c.-31+595G>A	ATM	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 223458	NM_000051.4(ATM):c.-31+1129T>A	ATM	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 223473	NM_000051.4(ATM):c.-31+1135C>T	ATM	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 223452	NM_000051.4(ATM):c.-31+1782A>C	ATM	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 678197	NM_000051.4(ATM):c.-30-180C>T	ATM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272729	NM_000051.4(ATM):c.-30-79A>G	ATM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223249	NM_000051.4(ATM):c.-30-53A>C	ATM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1299766	NM_000051.4(ATM):c.-30-44T>C	ATM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 380958	NM_000051.4(ATM):c.-30-19A>G	ATM	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 386696	NM_000051.4(ATM):c.-30-17A>G	ATM	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 393076	NM_000051.4(ATM):c.-30-15G>A	ATM	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1238624	NM_000051.4(ATM):c.-30-5dup	ATM	Duplication (intron variant)	ATM-related condition +2 more	GConflicting classifications of pathogenicity
Select item 514341	NM_000051.3(ATM):c.-30_-27delACAG	ATM	Microsatellite	not specified	GLikely benign
Select item 224517	NM_000051.4(ATM):c.-30-1G>T	ATM	Single nucleotide variant (splice acceptor variant)	Familial cancer of breast +3 more	GConflicting classifications of pathogenicity
Select item 385939	NM_000051.4(ATM):c.-27G>T	ATM	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 3043735	NM_000051.4(ATM):c.-26T>C	ATM	Single nucleotide variant (5 prime UTR variant)	ATM-related condition	GLikely benign
Select item 506340	NM_000051.4(ATM):c.-25G>T	ATM	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 377502	NM_000051.4(ATM):c.-24A>G	ATM	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
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 381925	NM_000051.4(ATM):c.-18G>C	ATM	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 490406	NM_000051.4(ATM):c.-15C>T	ATM	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 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 652378	NC_000011.9:g.(?_108098342)_(108117864_?)dup	ATM, LOC129390352 +1 more	Duplication	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 649639	NC_000011.9:g.(?_108098342)_(108236245_?)dup	ATM, C11orf65 +4 more	Duplication	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 648529	NC_000011.10:g.(?_108227615)_(108229333_?)del	ATM	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 584290	NC_000011.10:g.(?_108227615)_(108365518_?)del	ATM, C11orf65 +4 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 524488	NC_000011.10:g.(?_108227619)_(108227894_?)del	ATM	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 524487	NC_000011.9:g.(?_108098346)_(108236241_?)dup	C11orf65, LOC128772356 +4 more	Duplication	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 453335	NC_000011.9:g.(?_108098346)_(108151901_?)dup	ATM, LOC128772356 +2 more	Duplication	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 1751008	NM_000051.4(ATM):c.-5G>A	ATM	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 824478	NM_000051.4(ATM):c.-3A>G	ATM	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
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 220299	NM_000051.3(ATM):c.(?_-1)_4109+?dup	ATM, LOC128772356 +2 more	Duplication	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 187213	NM_000051.4(ATM):c.1A>C (p.Met1Leu)	ATM (M1L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 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)	Hereditary cancer-predisposing 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)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 640846	NM_000051.4(ATM):c.4A>G (p.Ser2Gly)	ATM (S2G)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +1 more	GUncertain significance
Select item 489566	NM_000051.4(ATM):c.5G>A (p.Ser2Asn)	ATM (S2N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 181943	NM_000051.4(ATM):c.5G>C (p.Ser2Thr)	ATM (S2T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1337452	NM_000051.4(ATM):c.6T>G (p.Ser2Arg)	ATM (S2R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2017277	NM_000051.4(ATM):c.7C>T (p.Leu3=)	ATM	Single nucleotide variant (synonymous variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 453759	NM_000051.4(ATM):c.8T>C (p.Leu3Pro)	ATM (L3P)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +1 more	GUncertain significance
Select item 246026	NM_000051.4(ATM):c.8del (p.Leu3fs)	ATM (L3fs)	Deletion (frameshift variant)	Ataxia-telangiectasia syndrome +3 more	GPathogenic/Likely pathogenic
Select item 490760	NM_000051.4(ATM):c.9A>G (p.Leu3=)	ATM	Single nucleotide variant (synonymous variant)	Ataxia-telangiectasia syndrome +1 more	GLikely benign
Select item 524305	NM_000051.4(ATM):c.10G>A (p.Val4Ile)	ATM (V4I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 481224	NM_000051.4(ATM):c.10G>T (p.Val4Leu)	ATM (V4L)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +1 more	GUncertain significance
Select item 453356	NM_000051.4(ATM):c.11T>C (p.Val4Ala)	ATM (V4A)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +1 more	GConflicting classifications of pathogenicity
Select item 184259	NM_000051.4(ATM):c.12A>G (p.Val4=)	ATM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2108203	NM_000051.4(ATM):c.13C>T (p.Leu5Phe)	ATM (L5F)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 1059654	NM_000051.4(ATM):c.13C>G (p.Leu5Val)	ATM (L5V)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 234089	NM_000051.4(ATM):c.15dup (p.Asn6Ter)	ATM (N6*)	Duplication (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 2679751	NM_000051.4(ATM):c.15del (p.Asn6fs)	ATM (N6fs)	Deletion (frameshift variant)	Familial cancer of breast	GLikely pathogenic
Select item 1773992	NM_000051.4(ATM):c.14T>G (p.Leu5Arg)	ATM (L5R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1771775	NM_000051.4(ATM):c.14_21del (p.Leu5fs)	ATM (L5fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1452009	NM_000051.4(ATM):c.17dup (p.Asn6fs)	ATM (N6fs)	Duplication (frameshift variant)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 799519	NM_000051.4(ATM):c.15T>G (p.Leu5=)	ATM	Single nucleotide variant (synonymous variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 2088773	NM_000051.4(ATM):c.17_20del (p.Asn6fs)	ATM (N6fs)	Deletion (frameshift variant)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 2697033	NM_000051.4(ATM):c.19_21del (p.Asp7del)	ATM (D7del)	Deletion (inframe_deletion)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 231319	NM_000051.4(ATM):c.18T>C (p.Asn6=)	ATM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2743808	NM_000051.4(ATM):c.19G>T (p.Asp7Tyr)	ATM (D7Y)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome	GUncertain significance

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