TH2LCRR[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 59673	GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1	LOC129994580, LOC129994581 +336 more	Copy number loss	See cases	GPathogenic
Select item 58356	GRCh38/hg38 5q23.2-31.1(chr5:126438406-132873967)x1	LOC129994513, LOC129994514 +200 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 146119	GRCh38/hg38 5q31.1(chr5:131626503-135815054)x1	ACSL6, ACSL6-AS1 +263 more	Copy number loss	See cases	GPathogenic
Select item 417427	NC_000005.10:g.(?_132556924)_(132644621_?)del	RAD50, TH2-LCR +1 more	Deletion	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 662868	NC_000005.10:g.(?_132557315)_(132642374_?)del	TH2-LCR, TH2LCRR +1 more	Deletion	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 639865	NC_000005.10:g.(?_132575767)_(132642374_?)del	RAD50, TH2-LCR +1 more	Deletion	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1636890	NM_005732.4(RAD50):c.3390-20C>G	RAD50, TH2-LCR +1 more	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1616488	NM_005732.4(RAD50):c.3390-20C>T	RAD50, TH2-LCR +1 more	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1573354	NM_005732.4(RAD50):c.3390-17A>G	RAD50, TH2-LCR +1 more	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1096270	NM_005732.4(RAD50):c.3390-10C>T	RAD50, TH2-LCR +1 more	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 584286	NC_000005.9:g.(?_131972797)_(131976507_?)dup	TH2LCRR, TH2-LCR +1 more	Duplication	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 2098297	NM_005732.4(RAD50):c.3390-9C>G	RAD50, TH2-LCR +1 more	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 457448	NM_005732.4(RAD50):c.3390-9C>T	RAD50, TH2-LCR +1 more	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 584417	NC_000005.9:g.(?_131972801)_(131976503_?)dup	RAD50, TH2-LCR +1 more	Duplication	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 2845312	NM_005732.4(RAD50):c.3390-5T>A	RAD50, TH2-LCR +1 more	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2730698	NM_005732.4(RAD50):c.3390-5T>G	RAD50, TH2-LCR +1 more	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 633383	NM_005732.4(RAD50):c.3390-5T>C	RAD50, TH2-LCR +1 more	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 729834	NM_005732.4(RAD50):c.3390-4C>T	RAD50, TH2-LCR +1 more	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 646324	NM_005732.4(RAD50):c.3390-3C>T	RAD50, TH2-LCR +1 more	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1066651	NM_005732.4(RAD50):c.3390-2A>G	RAD50, TH2-LCR +1 more	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 1730900	NM_005732.4(RAD50):c.3390-1G>A	TH2LCRR, RAD50 +1 more	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 1057120	NM_005732.4(RAD50):c.3390A>G (p.Gln1130=)	TH2LCRR, RAD50 +1 more	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1393871	NM_005732.4(RAD50):c.3391G>A (p.Ala1131Thr)	RAD50, TH2-LCR +1 more (A1131T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1057002	NM_005732.4(RAD50):c.3392C>G (p.Ala1131Gly)	RAD50, TH2-LCR +1 more (A1131G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1044159	NM_005732.4(RAD50):c.3392C>A (p.Ala1131Glu)	RAD50, TH2-LCR +1 more (A1131E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 240237	NM_005732.4(RAD50):c.3394A>G (p.Ile1132Val)	TH2LCRR, RAD50 +1 more (I1132V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 955277	NM_005732.4(RAD50):c.3397A>G (p.Met1133Val)	RAD50, TH2-LCR +1 more (M1133V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1731066	NM_005732.4(RAD50):c.3400A>C (p.Lys1134Gln)	RAD50, TH2-LCR +1 more (K1134Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 230794	NM_005732.4(RAD50):c.3402A>G (p.Lys1134=)	RAD50, TH2-LCR +1 more	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 480466	NM_005732.4(RAD50):c.3405T>C (p.Phe1135=)	RAD50, TH2-LCR +1 more	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2586245	NM_005732.4(RAD50):c.3408C>G (p.His1136Gln)	RAD50, TH2-LCR +1 more (H1136Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 184019	NM_005732.4(RAD50):c.3408C>T (p.His1136=)	RAD50, TH2-LCR +1 more	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3224975	NM_005732.4(RAD50):c.3409A>T (p.Ser1137Cys)	RAD50, TH2-LCR +1 more (S1137C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1381118	NM_005732.4(RAD50):c.3409A>C (p.Ser1137Arg)	RAD50, TH2-LCR +1 more (S1137R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 568306	NM_005732.4(RAD50):c.3410G>T (p.Ser1137Ile)	RAD50, TH2-LCR +1 more (S1137I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 482140	NM_005732.4(RAD50):c.3410G>A (p.Ser1137Asn)	TH2-LCR, RAD50 +1 more (S1137N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 527335	NM_005732.4(RAD50):c.3412A>C (p.Met1138Leu)	TH2-LCR, TH2LCRR +1 more (M1138L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1509333	NM_005732.4(RAD50):c.3413T>C (p.Met1138Thr)	RAD50, TH2-LCR +1 more (M1138T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 484634	NM_005732.4(RAD50):c.3414G>A (p.Met1138Ile)	RAD50, TH2-LCR +1 more (M1138I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1731217	NM_005732.4(RAD50):c.3417A>G (p.Lys1139=)	RAD50, TH2-LCR +1 more	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 457449	NM_005732.4(RAD50):c.3420G>A (p.Met1140Ile)	RAD50, TH2-LCR +1 more (M1140I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 482153	NM_005732.4(RAD50):c.3421GAA[1] (p.Glu1142del)	RAD50, TH2-LCR +1 more (E1142del)	Microsatellite (inframe_deletion)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1368576	NM_005732.4(RAD50):c.3425A>G (p.Glu1142Gly)	RAD50, TH2-LCR +1 more (E1142G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2799849	NM_005732.4(RAD50):c.3429_3432del (p.Asn1144fs)	RAD50, TH2-LCR +1 more (N1144fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1083696	NM_005732.4(RAD50):c.3426A>G (p.Glu1142=)	RAD50, TH2-LCR +1 more	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 486241	NM_005732.4(RAD50):c.3426A>C (p.Glu1142Asp)	RAD50, TH2-LCR +1 more (E1142D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1731313	NM_005732.4(RAD50):c.3427A>T (p.Ile1143Phe)	RAD50, TH2-LCR +1 more (I1143F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 484683	NM_005732.4(RAD50):c.3427A>G (p.Ile1143Val)	RAD50, TH2-LCR +1 more (I1143V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2565935	NM_005732.4(RAD50):c.3428T>A (p.Ile1143Asn)	RAD50, TH2-LCR +1 more (I1143N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2678148	NM_005732.4(RAD50):c.3429C>G (p.Ile1143Met)	TH2LCRR, RAD50 +1 more (I1143M)	Single nucleotide variant (missense variant)	Nijmegen breakage syndrome-like disorder	GUncertain significance
Select item 823760	NM_005732.4(RAD50):c.3429C>A (p.Ile1143=)	RAD50, TH2-LCR +1 more	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1731376	NM_005732.4(RAD50):c.3430A>G (p.Asn1144Asp)	RAD50, TH2-LCR +1 more (N1144D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 663721	NM_005732.4(RAD50):c.3431A>G (p.Asn1144Ser)	RAD50, TH2-LCR +1 more (N1144S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 650741	NM_005732.4(RAD50):c.3435A>C (p.Lys1145Asn)	RAD50, TH2-LCR +1 more (K1145N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 527363	NM_005732.4(RAD50):c.3440_3441dup (p.Arg1148fs)	TH2-LCR, TH2LCRR +1 more (R1148fs)	Microsatellite (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 480476	NM_005732.4(RAD50):c.3437T>C (p.Ile1146Thr)	RAD50, TH2-LCR +1 more (I1146T)	Single nucleotide variant (missense variant)	Nijmegen breakage syndrome-like disorder +1 more	GUncertain significance
Select item 2084548	NM_005732.4(RAD50):c.3438T>A (p.Ile1146=)	RAD50, TH2-LCR +1 more	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 527409	NM_005732.4(RAD50):c.3438T>C (p.Ile1146=)	RAD50, TH2-LCR +1 more	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 644221	NM_005732.4(RAD50):c.3439A>G (p.Ile1147Val)	RAD50, TH2-LCR +1 more (I1147V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 140855	NM_005732.4(RAD50):c.3440T>C (p.Ile1147Thr)	RAD50, TH2-LCR +1 more (I1147T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 823776	NM_005732.4(RAD50):c.3442C>G (p.Arg1148Gly)	RAD50, TH2-LCR +1 more (R1148G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 408378	NM_005732.4(RAD50):c.3442C>A (p.Arg1148Ser)	RAD50, TH2-LCR +1 more (R1148S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 408374	NM_005732.4(RAD50):c.3442C>T (p.Arg1148Cys)	TH2LCRR, RAD50 +1 more (R1148C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 142677	NM_005732.4(RAD50):c.3443G>A (p.Arg1148His)	RAD50, TH2-LCR +1 more (R1148H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 480419	NM_005732.4(RAD50):c.3444T>C (p.Arg1148=)	TH2-LCR, TH2LCRR +1 more	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 457450	NM_005732.4(RAD50):c.3445G>A (p.Asp1149Asn)	RAD50, TH2-LCR +1 more (D1149N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1731510	NM_005732.4(RAD50):c.3446A>G (p.Asp1149Gly)	RAD50, TH2-LCR +1 more (D1149G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1347478	NM_005732.4(RAD50):c.3446A>T (p.Asp1149Val)	RAD50, TH2-LCR +1 more (D1149V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 230979	NM_005732.4(RAD50):c.3447C>T (p.Asp1149=)	TH2LCRR, RAD50 +1 more	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1556604	NM_005732.4(RAD50):c.3448C>T (p.Leu1150=)	RAD50, TH2-LCR +1 more	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2861131	NM_005732.4(RAD50):c.3449T>A (p.Leu1150Gln)	RAD50, TH2-LCR +1 more (L1150Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2060734	NM_005732.4(RAD50):c.3450G>C (p.Leu1150=)	RAD50, TH2-LCR +1 more	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1720823	NM_005732.4(RAD50):c.3452G>T (p.Trp1151Leu)	RAD50, TH2-LCR +1 more (W1151L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2768998	NM_005732.4(RAD50):c.3453G>C (p.Trp1151Cys)	RAD50, TH2-LCR +1 more (W1151C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 233174	NM_005732.4(RAD50):c.3454C>T (p.Arg1152Ter)	RAD50, TH2-LCR +1 more (R1152*)	Single nucleotide variant (nonsense)	Nijmegen breakage syndrome-like disorder +1 more	GPathogenic/Likely pathogenic
Select item 1502286	NM_005732.4(RAD50):c.3455G>T (p.Arg1152Leu)	RAD50, TH2-LCR +1 more (R1152L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 128019	NM_005732.4(RAD50):c.3455G>A (p.Arg1152Gln)	TH2LCRR, RAD50 +1 more (R1152Q)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 486267	NM_005732.4(RAD50):c.3456A>T (p.Arg1152=)	RAD50, TH2-LCR +1 more	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1456267	NM_005732.4(RAD50):c.3458_3459dup (p.Thr1154fs)	RAD50, TH2-LCR +1 more (T1154fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1071256	NM_005732.4(RAD50):c.3458dup (p.Ser1153fs)	TH2LCRR, RAD50 +1 more (S1153fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 858176	NM_005732.4(RAD50):c.3458G>A (p.Ser1153Asn)	RAD50, TH2-LCR +1 more (S1153N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2565943	NM_005732.4(RAD50):c.3459T>C (p.Ser1153=)	RAD50, TH2-LCR +1 more	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 972601	NM_005732.4(RAD50):c.3460_3462delinsCGTGGTCACG (p.Thr1154fs)	RAD50, TH2-LCR +1 more (T1154fs)	Indel (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 527376	NM_005732.4(RAD50):c.3460A>C (p.Thr1154Pro)	RAD50, TH2-LCR +1 more (T1154P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2810424	NM_005732.4(RAD50):c.3461C>G (p.Thr1154Ser)	RAD50, TH2-LCR +1 more (T1154S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 823801	NM_005732.4(RAD50):c.3461C>T (p.Thr1154Ile)	RAD50, TH2-LCR +1 more (T1154I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1086507	NM_005732.4(RAD50):c.3462C>A (p.Thr1154=)	RAD50, TH2-LCR +1 more	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 480484	NM_005732.4(RAD50):c.3462C>T (p.Thr1154=)	RAD50, TH2-LCR +1 more	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2747012	NM_005732.4(RAD50):c.3463T>A (p.Tyr1155Asn)	RAD50, TH2-LCR +1 more (Y1155N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 408406	NM_005732.4(RAD50):c.3463T>G (p.Tyr1155Asp)	RAD50, TH2-LCR +1 more (Y1155D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 527356	NM_005732.4(RAD50):c.3464A>G (p.Tyr1155Cys)	RAD50, TH2-LCR +1 more (Y1155C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 186241	NM_005732.4(RAD50):c.3466C>T (p.Arg1156Cys)	RAD50, TH2-LCR +1 more (R1156C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 582166	NM_005732.4(RAD50):c.3467G>T (p.Arg1156Leu)	RAD50, TH2-LCR +1 more (R1156L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 128020	NM_005732.4(RAD50):c.3467G>A (p.Arg1156His)	RAD50, TH2-LCR +1 more (R1156H)	Single nucleotide variant (missense variant)	Nijmegen breakage syndrome-like disorder +2 more	GUncertain significance
Select item 1605064	NM_005732.4(RAD50):c.3468T>G (p.Arg1156=)	RAD50, TH2-LCR +1 more	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 951690	NM_005732.4(RAD50):c.3474A>C (p.Gln1158His)	RAD50, TH2-LCR +1 more (Q1158H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 966888	NM_005732.4(RAD50):c.3475+4_3475+15del	RAD50, TH2-LCR +1 more	Deletion (splice donor variant)	Hereditary cancer-predisposing syndrome	GUncertain significance

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