ORPHA100[Trait identifier] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 684444	NM_000251.3(MSH2):c.2510C>G (p.Pro837Arg)	MSH2 (P771R +1 more)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +1 more	Gnot provided
Select item 13975	NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe)	BRAF (L485F +7 more)	Single nucleotide variant (missense variant)	RASopathy	GPathogenicFDA Recognized database
Select item 40367	NM_004333.6(BRAF):c.1411G>T (p.Val471Phe)	BRAF (V471F +7 more)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +2 more	GPathogenic/Likely pathogenic
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	ATM, C11orf65 +8 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 434433	NM_000051.3(ATM):c.-371G>C	ATM	Single nucleotide variant	not specified +2 more	GUncertain significance
Select item 302233	NC_000011.10:g.108222889A>T	ATM	Single nucleotide variant	Ataxia-telangiectasia syndrome +1 more	GLikely benign
Select item 302234	NM_000051.3(ATM):c.-274G>A	ATM	Single nucleotide variant	Ataxia-telangiectasia syndrome	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	Ataxia-telangiectasia syndrome +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 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)	not provided +1 more	GBenign
Select item 302241	NM_000051.4(ATM):c.-94G>A	ATM, LOC130006700	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GUncertain significance
Select item 302242	NM_000051.4(ATM):c.-74G>A	ATM, LOC130006700	Single nucleotide variant (5 prime UTR variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 550420	NM_000051.4(ATM):c.-31+595G>A	ATM	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GUncertain significance
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 490406	NM_000051.4(ATM):c.-15C>T	ATM	Single nucleotide variant (5 prime UTR variant)	not specified +2 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	LOC129390353, LOC129390354 +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	ATM, C11orf65 +4 more	Duplication	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 453335	NC_000011.9:g.(?_108098346)_(108151901_?)dup	LOC129390353, ATM +2 more	Duplication	Ataxia-telangiectasia syndrome	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)	Familial cancer of breast +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)	not provided +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	GPathogenicFDA Recognized database
Select item 188901	NM_000051.4(ATM):c.3G>A (p.Met1Ile)	ATM (M1I)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +4 more	GPathogenic/Likely pathogenic
Select item 640846	NM_000051.4(ATM):c.4A>G (p.Ser2Gly)	ATM (S2G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 489566	NM_000051.4(ATM):c.5G>A (p.Ser2Asn)	ATM (S2N)	Single nucleotide variant (missense variant)	not specified +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 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)	Familial cancer of breast +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 +2 more	GBenign/Likely benign
Select item 524305	NM_000051.4(ATM):c.10G>A (p.Val4Ile)	ATM (V4I)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +1 more	GConflicting classifications of pathogenicity
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)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
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)	not provided +1 more	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 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 +1 more	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 2743808	NM_000051.4(ATM):c.19G>T (p.Asp7Tyr)	ATM (D7Y)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 1014478	NM_000051.4(ATM):c.19G>C (p.Asp7His)	ATM (D7H)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +1 more	GUncertain significance
Select item 2851523	NM_000051.4(ATM):c.24_29dup (p.Leu9_Ile10insMetLeu)	ATM	Duplication (inframe_insertion)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 2033814	NM_000051.4(ATM):c.24_26del (p.Leu9del)	ATM (L9del)	Deletion (inframe_deletion)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 1552879	NM_000051.4(ATM):c.22C>T (p.Leu8=)	ATM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 641026	NM_000051.4(ATM):c.23T>C (p.Leu8Pro)	ATM (L8P)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +1 more	GUncertain significance
Select item 487013	NM_000051.4(ATM):c.23T>G (p.Leu8Arg)	ATM (L8R)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +1 more	GUncertain significance
Select item 482689	NM_000051.4(ATM):c.24G>A (p.Leu8=)	ATM	Single nucleotide variant (synonymous variant)	Ataxia-telangiectasia syndrome +2 more	GBenign/Likely benign
Select item 1000339	NM_000051.4(ATM):c.25C>T (p.Leu9Phe)	ATM (L9F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1348074	NM_000051.4(ATM):c.29T>C (p.Ile10Thr)	ATM (I10T)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +1 more	GUncertain significance
Select item 1570105	NM_000051.4(ATM):c.30C>T (p.Ile10=)	ATM	Single nucleotide variant (synonymous variant)	Ataxia-telangiectasia syndrome +1 more	GBenign/Likely benign
Select item 796760	NM_000051.4(ATM):c.30C>A (p.Ile10=)	ATM	Single nucleotide variant (synonymous variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 1729959	NM_000051.4(ATM):c.32G>C (p.Cys11Ser)	ATM (C11S)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +3 more	GUncertain significance
Select item 485240	NM_000051.4(ATM):c.33C>T (p.Cys11=)	ATM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 407554	NM_000051.4(ATM):c.34T>C (p.Cys12Arg)	ATM (C12R)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 1954708	NM_000051.4(ATM):c.36C>A (p.Cys12Ter)	ATM (C12*)	Single nucleotide variant (nonsense)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 1128351	NM_000051.4(ATM):c.36C>T (p.Cys12=)	ATM	Single nucleotide variant (synonymous variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 1035304	NM_000051.4(ATM):c.37C>A (p.Arg13Ser)	ATM (R13S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 824233	NM_000051.4(ATM):c.37C>G (p.Arg13Gly)	ATM (R13G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 185977	NM_000051.4(ATM):c.37C>T (p.Arg13Cys)	ATM (R13C)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 479047	NM_000051.4(ATM):c.38G>T (p.Arg13Leu)	ATM (R13L)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +1 more	GUncertain significance
Select item 188171	NM_000051.4(ATM):c.38G>A (p.Arg13His)	ATM (R13H)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2001885	NM_000051.4(ATM):c.40C>T (p.Gln14Ter)	ATM (Q14*)	Single nucleotide variant (nonsense)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 568034	NM_000051.4(ATM):c.41A>G (p.Gln14Arg)	ATM (Q14R)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 183841	NM_000051.4(ATM):c.42A>G (p.Gln14=)	ATM	Single nucleotide variant (synonymous variant)	Familial cancer of breast +4 more	GBenign/Likely benign
Select item 232822	NM_000051.4(ATM):c.43del (p.Gln14_Leu15insTer)	ATM	Deletion (nonsense)	Ataxia-telangiectasia syndrome +3 more	GPathogenic
Select item 524345	NM_000051.4(ATM):c.44T>A (p.Leu15Gln)	ATM (L15Q)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 453524	NM_000051.4(ATM):c.44T>G (p.Leu15Arg)	ATM (L15R)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 2820399	NM_000051.4(ATM):c.46G>T (p.Glu16Ter)	ATM (E16*)	Single nucleotide variant (nonsense)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 407509	NM_000051.4(ATM):c.48A>G (p.Glu16=)	ATM	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 1524468	NM_000051.4(ATM):c.52_54dup (p.Asp18dup)	ATM	Duplication (inframe_insertion)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 229721	NM_000051.4(ATM):c.49C>A (p.His17Asn)	ATM (H17N)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2746068	NM_000051.4(ATM):c.50A>C (p.His17Pro)	ATM (H17P)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 921708	NM_000051.4(ATM):c.50A>G (p.His17Arg)	ATM (H17R)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +2 more	GUncertain significance
Select item 662558	NM_000051.4(ATM):c.50_51del (p.His17fs)	ATM (H17fs)	Deletion (frameshift variant)	Familial cancer of breast +1 more	GPathogenic
Select item 825542	NM_000051.4(ATM):c.51T>C (p.His17=)	ATM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 2850037	NM_000051.4(ATM):c.52G>T (p.Asp18Tyr)	ATM (D18Y)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 2159504	NM_000051.4(ATM):c.52G>C (p.Asp18His)	ATM (D18H)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 1001071	NM_000051.4(ATM):c.52G>A (p.Asp18Asn)	ATM (D18N)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 187693	NM_000051.4(ATM):c.54T>C (p.Asp18=)	ATM	Single nucleotide variant (synonymous variant)	Ataxia-telangiectasia syndrome +1 more	GLikely benign
Select item 584773	NM_000051.4(ATM):c.55A>G (p.Arg19Gly)	ATM (R19G)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +1 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 482688	NM_000051.4(ATM):c.58G>A (p.Ala20Thr)	ATM (A20T)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +1 more	GUncertain significance
Select item 864485	NM_000051.4(ATM):c.59C>G (p.Ala20Gly)	ATM (A20G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1751625	NM_000051.4(ATM):c.60T>C (p.Ala20=)	ATM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 2830386	NM_000051.4(ATM):c.61A>C (p.Thr21Pro)	ATM (T21P)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome	GUncertain significance
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 3006410	NM_000051.4(ATM):c.62C>G (p.Thr21Arg)	ATM (T21R)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome	GUncertain significance

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