Related gene-specific medical variations for Gene (Select 10111) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3312328	NM_005732.4(RAD50):c.3663C>G (p.Phe1221Leu)	RAD50, TH2-LCR +1 more (F1221L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3312326	NM_005732.4(RAD50):c.3424G>A (p.Glu1142Lys)	RAD50, TH2-LCR +1 more (E1142K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3312302	NM_005732.4(RAD50):c.3458G>C (p.Ser1153Thr)	RAD50, TH2-LCR +1 more (S1153T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3246286	NC_000005.9:g.(?_131931449)_(131934832_?)del	RAD50	Deletion	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 3246285	NC_000005.9:g.(?_131972797)_(131973925_?)dup	RAD50	Duplication	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 3246284	NC_000005.9:g.(?_131923234)_(131925549_?)del	RAD50	Deletion	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3246283	NC_000005.9:g.(?_131976354)_(131978056_?)del	RAD50	Deletion	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 3246282	NC_000005.9:g.(?_131944789)_(131945108_?)del	RAD50	Deletion	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3246281	NC_000005.9:g.(?_131893017)_(131976507_?)del	RAD50	Deletion	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3240250	NM_005732.4(RAD50):c.1051G>A (p.Gly351Ser)	RAD50 (G351S)	Single nucleotide variant (missense variant)	Nijmegen breakage syndrome-like disorder	GUncertain significance
Select item 3240249	NM_005732.4(RAD50):c.2160A>T (p.Lys720Asn)	RAD50 (K720N)	Single nucleotide variant (missense variant)	Nijmegen breakage syndrome-like disorder	GUncertain significance
Select item 3240248	NM_005732.4(RAD50):c.1910A>G (p.Asp637Gly)	RAD50 (D637G)	Single nucleotide variant (missense variant)	Nijmegen breakage syndrome-like disorder	GUncertain significance
Select item 3224987	NM_005732.4(RAD50):c.3862A>G (p.Arg1288Gly)	RAD50, TH2LCRR (R1288G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224985	NM_005732.4(RAD50):c.3748G>A (p.Val1250Ile)	RAD50, TH2-LCR +1 more (V1250I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224983	NM_005732.4(RAD50):c.3723C>T (p.Asn1241=)	RAD50, TH2-LCR +1 more	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3224982	NM_005732.4(RAD50):c.3685G>T (p.Ala1229Ser)	RAD50, TH2-LCR +1 more (A1229S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224981	NM_005732.4(RAD50):c.3665G>A (p.Cys1222Tyr)	TH2-LCR, RAD50 +1 more (C1222Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224979	NM_005732.4(RAD50):c.3646G>T (p.Ala1216Ser)	RAD50, TH2-LCR +1 more (A1216S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224977	NM_005732.4(RAD50):c.3540G>A (p.Arg1180=)	RAD50, TH2-LCR +1 more	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3224976	NM_005732.4(RAD50):c.3507C>G (p.Ala1169=)	RAD50, TH2-LCR +1 more	Single nucleotide variant (synonymous variant +1 more)	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 3019437	NM_005732.4(RAD50):c.3868A>G (p.Lys1290Glu)	RAD50, TH2LCRR (K1290E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3002629	NM_005732.4(RAD50):c.3725T>A (p.Ile1242Asn)	RAD50, TH2-LCR +1 more (I1242N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3002173	NM_005732.4(RAD50):c.3645G>A (p.Leu1215=)	RAD50, TH2-LCR +1 more	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2914480	NM_005732.4(RAD50):c.3673T>C (p.Cys1225Arg)	RAD50, TH2-LCR +1 more (C1225R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2885377	NM_005732.4(RAD50):c.3752+4_3752+7del	RAD50, TH2-LCR +1 more	Microsatellite (splice donor variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2874944	NM_005732.4(RAD50):c.3873_3875del (p.Lys1291del)	RAD50, TH2LCRR (K1291del)	Deletion (inframe_deletion)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2866737	NM_005732.4(RAD50):c.3476-9C>A	RAD50, TH2-LCR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2863616	NM_005732.4(RAD50):c.3652G>A (p.Ala1218Thr)	RAD50, TH2-LCR +1 more (A1218T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2863033	NM_005732.4(RAD50):c.3487A>C (p.Ile1163Leu)	RAD50, TH2-LCR +1 more (I1163L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2862404	NM_005732.4(RAD50):c.3479T>G (p.Ile1160Ser)	RAD50, TH2-LCR +1 more (I1160S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2861911	NM_005732.4(RAD50):c.3618+20G>A	RAD50, TH2-LCR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	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 2858143	NM_005732.4(RAD50):c.3784T>G (p.Phe1262Val)	RAD50, TH2LCRR (F1262V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2851097	NM_005732.4(RAD50):c.3618+5G>C	RAD50, TH2-LCR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
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 2839333	NM_005732.4(RAD50):c.3554G>T (p.Arg1185Leu)	RAD50, TH2-LCR +1 more (R1185L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2824850	NM_005732.4(RAD50):c.3504T>G (p.Asp1168Glu)	RAD50, TH2-LCR +1 more (D1168E)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2822274	NM_005732.4(RAD50):c.3709C>T (p.Leu1237Phe)	RAD50, TH2-LCR +1 more (L1237F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2822273	NM_005732.4(RAD50):c.3624A>T (p.Leu1208Phe)	RAD50, TH2-LCR +1 more (L1208F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2822263	NM_005732.4(RAD50):c.3691G>A (p.Asp1231Asn)	RAD50, TH2-LCR +1 more (D1231N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2816678	NM_005732.4(RAD50):c.3653C>T (p.Ala1218Val)	TH2LCRR, RAD50 +1 more (A1218V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2816346	NM_005732.4(RAD50):c.3695A>G (p.Glu1232Gly)	RAD50, TH2-LCR +1 more (E1232G)	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 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 2797782	NM_005732.4(RAD50):c.3752+20_3752+22delinsTTA	RAD50, TH2-LCR +1 more	Indel (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2792341	NM_005732.4(RAD50):c.3545A>T (p.Tyr1182Phe)	RAD50, TH2-LCR +1 more (Y1182F)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2776398	NM_005732.4(RAD50):c.3886T>C (p.Cys1296Arg)	RAD50, TH2LCRR (C1296R)	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 2768746	NM_005732.4(RAD50):c.3656A>G (p.Glu1219Gly)	RAD50, TH2-LCR +1 more (E1219G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2763789	NM_005732.4(RAD50):c.3880_3881insT (p.Asp1294fs)	RAD50, TH2LCRR (D1294fs)	Insertion (frameshift variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2761435	NM_005732.4(RAD50):c.3752+18A>C	TH2LCRR, RAD50 +1 more	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2759294	NM_005732.4(RAD50):c.3761A>T (p.Lys1254Ile)	TH2-LCR, RAD50 +1 more (K1254I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2759178	NM_005732.4(RAD50):c.3914G>C (p.Ser1305Thr)	RAD50, TH2LCRR (S1305T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2755058	NM_005732.4(RAD50):c.3810_3840dup (p.Glu1281Ter)	RAD50, TH2LCRR (E1281*)	Duplication (nonsense +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2749992	NM_005732.4(RAD50):c.3559G>A (p.Val1187Met)	RAD50, TH2-LCR +1 more (V1187M)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
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 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 2729130	NM_005732.4(RAD50):c.3880G>C (p.Asp1294His)	RAD50, TH2LCRR (D1294H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2719619	NM_005732.4(RAD50):c.3748G>C (p.Val1250Leu)	RAD50, TH2-LCR +1 more (V1250L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2709657	NM_005732.4(RAD50):c.3593_3603del (p.Arg1198fs)	RAD50, TH2-LCR +1 more (R1198fs)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 2682067	NM_005732.4(RAD50):c.660T>C (p.Ala220=)	RAD50	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2682066	NM_005732.4(RAD50):c.3064C>A (p.Leu1022Ile)	RAD50 (L1022I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682065	NM_005732.4(RAD50):c.3036+3A>G	RAD50	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2682064	NM_005732.4(RAD50):c.1280_1283del (p.Lys427fs)	RAD50 (K427fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2678164	NM_005732.4(RAD50):c.3564dup (p.Leu1189fs)	RAD50, TH2-LCR +1 more (L1189fs)	Duplication (frameshift variant +1 more)	Nijmegen breakage syndrome-like disorder	GLikely pathogenic
Select item 2678162	NM_005732.4(RAD50):c.304_307del (p.Cys102fs)	RAD50 (C102fs)	Deletion (frameshift variant)	Nijmegen breakage syndrome-like disorder	GLikely pathogenic
Select item 2678161	NM_005732.4(RAD50):c.1052dup	RAD50	Duplication	Nijmegen breakage syndrome-like disorder	GLikely pathogenic
Select item 2678160	NM_005732.4(RAD50):c.3058del (p.Asp1020fs)	RAD50 (D1020fs)	Deletion (frameshift variant)	Nijmegen breakage syndrome-like disorder	GLikely pathogenic
Select item 2678159	NM_005732.4(RAD50):c.2050dup (p.Cys684fs)	RAD50 (C684fs)	Duplication (frameshift variant)	Nijmegen breakage syndrome-like disorder	GLikely pathogenic
Select item 2678158	NM_005732.4(RAD50):c.3068_3072del (p.Thr1023fs)	RAD50 (T1023fs)	Deletion (frameshift variant)	Nijmegen breakage syndrome-like disorder	GLikely pathogenic
Select item 2678157	NM_005732.4(RAD50):c.551+1G>C	RAD50	Single nucleotide variant (splice donor variant)	Nijmegen breakage syndrome-like disorder	GLikely pathogenic
Select item 2678156	NM_005732.4(RAD50):c.1876G>T (p.Glu626Ter)	RAD50 (E626*)	Single nucleotide variant (nonsense)	Nijmegen breakage syndrome-like disorder	GLikely pathogenic
Select item 2678155	NM_005732.4(RAD50):c.3752+1G>A	RAD50, TH2-LCR +1 more	Single nucleotide variant (splice donor variant)	Nijmegen breakage syndrome-like disorder	GLikely pathogenic
Select item 2678154	NM_005732.4(RAD50):c.3165-2A>G	RAD50	Single nucleotide variant (splice acceptor variant)	Nijmegen breakage syndrome-like disorder	GLikely pathogenic
Select item 2678152	NM_005732.4(RAD50):c.129+37C>G	RAD50	Single nucleotide variant (intron variant)	Nijmegen breakage syndrome-like disorder	GUncertain significance
Select item 2678151	NM_005732.4(RAD50):c.1295_1296del (p.Ile432fs)	RAD50 (I432fs)	Deletion (frameshift variant)	Nijmegen breakage syndrome-like disorder	GLikely pathogenic
Select item 2678150	NM_005732.4(RAD50):c.3565C>G (p.Leu1189Val)	RAD50, TH2-LCR +1 more (L1189V)	Single nucleotide variant (missense variant +1 more)	Nijmegen breakage syndrome-like disorder	GUncertain significance
Select item 2678149	NM_005732.4(RAD50):c.77C>G (p.Thr26Ser)	RAD50 (T26S)	Single nucleotide variant (missense variant)	Nijmegen breakage syndrome-like disorder	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 2678147	NM_005732.4(RAD50):c.3753-2A>G	RAD50, TH2-LCR +1 more	Single nucleotide variant (splice acceptor variant)	Nijmegen breakage syndrome-like disorder	GLikely pathogenic
Select item 2633246	NM_005732.4(RAD50):c.3484T>A (p.Tyr1162Asn)	RAD50, TH2-LCR +1 more (Y1162N)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2586254	NM_005732.4(RAD50):c.3633C>A (p.Leu1211=)	RAD50, TH2-LCR +1 more	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2586251	NM_005732.4(RAD50):c.3648C>G (p.Ala1216=)	RAD50, TH2-LCR +1 more	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2586249	NM_005732.4(RAD50):c.3521C>G (p.Ser1174Ter)	RAD50, TH2-LCR +1 more (S1174*)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 2586248	NM_005732.4(RAD50):c.3672C>A (p.Asn1224Lys)	RAD50, TH2-LCR +1 more (N1224K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
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 2579662	NM_005732.4(RAD50):c.3890C>T (p.Ser1297Leu)	RAD50, TH2LCRR (S1297L)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 2565951	NM_005732.4(RAD50):c.3793C>G (p.Leu1265Val)	RAD50, TH2LCRR (L1265V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2565944	NM_005732.4(RAD50):c.3673T>G (p.Cys1225Gly)	RAD50, TH2-LCR +1 more (C1225G)	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 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 2565932	NM_005732.4(RAD50):c.3806A>C (p.His1269Pro)	RAD50, TH2LCRR (H1269P)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2565929	NM_005732.4(RAD50):c.3654T>A (p.Ala1218=)	RAD50, TH2-LCR +1 more	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2565926	NM_005732.4(RAD50):c.3818T>C (p.Phe1273Ser)	RAD50, TH2LCRR (F1273S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2565925	NM_005732.4(RAD50):c.3839del (p.Ser1280fs)	RAD50, TH2LCRR (S1280fs)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2451428	NM_005732.4(RAD50):c.3601T>G (p.Cys1201Gly)	RAD50, TH2-LCR +1 more (C1201G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2451422	NM_005732.4(RAD50):c.3496C>G (p.Arg1166Gly)	RAD50, TH2-LCR +1 more (R1166G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2451415	NM_005732.4(RAD50):c.3810T>A (p.Asp1270Glu)	RAD50, TH2LCRR (D1270E)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2451407	NM_005732.4(RAD50):c.3659C>T (p.Thr1220Met)	RAD50, TH2-LCR +1 more (T1220M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance

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