RAD52[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	GAPDH, GAU1 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
Select item 146024	GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3	ACRBP, ADIPOR2 +348 more	Copy number gain	See cases	GPathogenic
Select item 152732	GRCh38/hg38 12p13.33-13.32(chr12:54427-3639603)x1	ADIPOR2, B4GALNT3 +142 more	Copy number loss	See cases	GPathogenic
Select item 152450	GRCh38/hg38 12p13.33-13.32(chr12:54427-4004912)x1	ADIPOR2, B4GALNT3 +147 more	Copy number loss	See cases	GPathogenic
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 149131	GRCh38/hg38 12p13.33(chr12:54427-936828)x1	B4GALNT3, CCDC77 +44 more	Copy number loss	See cases	GUncertain significance
Select item 147092	GRCh38/hg38 12p13.33(chr12:54452-2558097)x1	ADIPOR2, B4GALNT3 +101 more	Copy number loss	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 149561	GRCh38/hg38 12p13.33-13.32(chr12:80412-4420585)x1	ADIPOR2, B4GALNT3 +170 more	Copy number loss	See cases	GPathogenic
Select item 148625	GRCh38/hg38 12p13.33(chr12:80412-2850599)x1	ADIPOR2, B4GALNT3 +114 more	Copy number loss	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 58952	GRCh38/hg38 12p13.33(chr12:99592-1786491)x1	LOC130007161, LOC130007162 +80 more	Copy number loss	See cases	GPathogenic
Select item 154528	GRCh38/hg38 12p13.33(chr12:121255-3003320)x1	ADIPOR2, B4GALNT3 +123 more	Copy number loss	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 57044	GRCh38/hg38 12p13.33-13.32(chr12:121255-3968447)x1	ADIPOR2, B4GALNT3 +146 more	Copy number loss	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 147690	GRCh38/hg38 12p13.33-13.31(chr12:199896-5807366)x1	ADIPOR2, AKAP3 +218 more	Copy number loss	See cases	GPathogenic
Select item 59798	GRCh38/hg38 12p13.33-13.32(chr12:199896-3284963)x3	ADIPOR2, B4GALNT3 +126 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 155290	GRCh38/hg38 12p13.33-13.31(chr12:418421-6235914)x3	ADIPOR2, AKAP3 +223 more	Copy number gain	See cases	GPathogenic
Select item 149979	GRCh38/hg38 12p13.33(chr12:431903-1521472)x3	B4GALNT3, CCDC77 +40 more	Copy number gain	See cases	GUncertain significance
Select item 57155	GRCh38/hg38 12p13.33(chr12:832749-1632145)x3	ERC1, FBXL14 +30 more	Copy number gain	See cases	GUncertain significance
Select item 1342407	NC_000012.12:g.879711_984377dup	LOC126861412, LOC130007152 +2 more	Duplication	12p13.33 duplication syndrome	GUncertain significance
Select item 144782	GRCh38/hg38 12p13.33(chr12:902526-1279346)x3	ERC1, LOC124625877 +8 more	Copy number gain	See cases	GUncertain significance
Select item 127041	NM_134424.4(RAD52):c.*1194C>T	RAD52	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	Gnot provided
Select item 127042	NM_134424.4(RAD52):c.*992T>G	RAD52	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	Gnot provided
Select item 127043	NM_134424.4(RAD52):c.*468C>T	RAD52	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	Gnot provided
Select item 127044	NM_134424.4(RAD52):c.*453C>T	RAD52	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	Gnot provided
Select item 127045	NM_134424.4(RAD52):c.*395G>A	RAD52	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	Gnot provided
Select item 127046	NM_134424.4(RAD52):c.*325C>G	RAD52	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	Gnot provided
Select item 127047	NM_134424.4(RAD52):c.*324G>A	RAD52	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	Gnot provided
Select item 127048	NM_134424.4(RAD52):c.*322T>A	RAD52	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	Gnot provided
Select item 127049	NM_134424.4(RAD52):c.*321C>A	RAD52	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	Gnot provided
Select item 127050	NM_134424.4(RAD52):c.*320C>A	RAD52	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	Gnot provided
Select item 127051	NM_134424.4(RAD52):c.*318C>A	RAD52	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	Gnot provided
Select item 127052	NM_134424.4(RAD52):c.*317G>A	RAD52	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	Gnot provided
Select item 127053	NM_134424.4(RAD52):c.*316G>C	RAD52	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	Gnot provided
Select item 127054	NM_134424.4(RAD52):c.*315T>A	RAD52	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	Gnot provided
Select item 2461211	NM_134424.4(RAD52):c.1252T>C (p.Ser418Pro)	RAD52 (S418P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 403360	NM_134424.4(RAD52):c.1245T>G (p.Tyr415Ter)	RAD52 (Y415* +1 more)	Single nucleotide variant (nonsense +1 more)	not specified	GLikely benign
Select item 2524172	NM_134424.4(RAD52):c.1108A>C (p.Thr370Pro)	LOC126861412, RAD52 (T293P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3037321	NM_134424.4(RAD52):c.1037C>A (p.Ser346Ter)	LOC126861412, RAD52 (S269* +1 more)	Single nucleotide variant (nonsense +1 more)	RAD52-related disorder	GBenign
Select item 3151068	NM_134424.4(RAD52):c.1000G>C (p.Val334Leu)	LOC126861412, RAD52 (V334L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3151070	NM_134424.4(RAD52):c.980A>C (p.Asp327Ala)	LOC126861412, RAD52 (D250A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 136211	NM_134424.4(RAD52):c.967+135G>T	LOC126861412, RAD52	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 2378584	NM_134424.4(RAD52):c.890C>T (p.Thr297Met)	LOC126861412, RAD52 (T297M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263038	NM_134424.4(RAD52):c.864G>C (p.Glu288Asp)	RAD52 (E288D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2392921	NM_134424.4(RAD52):c.674C>T (p.Pro225Leu)	RAD52 (P148L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 781058	NM_134424.4(RAD52):c.661C>G (p.Gln221Glu)	RAD52 (Q221E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2224425	NM_134424.4(RAD52):c.497T>C (p.Ile166Thr)	RAD52 (I166T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 127055	NM_134424.4(RAD52):c.467+86A>G	RAD52	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 127056	NM_134424.4(RAD52):c.467+21C>T	RAD52	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 3151069	NM_134424.4(RAD52):c.447C>T (p.Asp149=)	RAD52	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2456188	NM_134424.4(RAD52):c.266C>T (p.Thr89Met)	RAD52 (T12M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 127057	NM_134424.4(RAD52):c.186+89C>T	RAD52	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 148611	GRCh38/hg38 12p13.33(chr12:936769-1244917)x1	ERC1, LOC124625877 +4 more	Copy number loss	See cases	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 3024578	GRCh37/hg19 12p13.33(chr12:922808-2129821)x1	ADIPOR2, CACNA2D4 +7 more	Copy number loss	not provided	GLikely pathogenic
Select item 2685429	GRCh37/hg19 12p13.33-13.32(chr12:191243-5332596)x1	ADIPOR2, AKAP3 +40 more	Copy number loss	not provided	GPathogenic
Select item 2685428	GRCh37/hg19 12p13.33(chr12:173787-2431561)x1	ADIPOR2, B4GALNT3 +16 more	Copy number loss	not provided	GUncertain significance
Select item 2684663	GRCh37/hg19 12p13.33(chr12:332362-1590974)x3	B4GALNT3, CCDC77 +7 more	Copy number gain	not provided	GUncertain significance
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	AKAP3, ETFRF1 +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2427496	NC_000012.11:g.(?_862732)_(2800365_?)dup	ADIPOR2, LRTM2 +8 more	Duplication	not provided	GUncertain significance
Select item 1809216	GRCh37/hg19 12p13.33(chr12:817514-2205439)x1	ADIPOR2, CACNA1C +8 more	Copy number loss	not provided	GPathogenic
Select item 1808183	GRCh37/hg19 12p13.33(chr12:1037077-1487331)x3	ERC1, RAD52	Copy number gain	not provided	GUncertain significance
Select item 1807708	GRCh37/hg19 12p13.33-13.31(chr12:173787-8320544)x3	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1527669	GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	A2ML1, ABCC9 +235 more	Copy number gain	not specified	GPathogenic
Select item 1334889	Single allele	RAD52	Duplication	Adrenal cortex carcinoma	GUncertain significance
Select item 1330180	GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3	ACRBP, ACSM4 +106 more	Copy number gain	Small hand +6 more	GPathogenic
Select item 1180524	GRCh37/hg19 12p13.33-13.31(chr12:189145-7730395)x3	CRACR2A, ERC1 +93 more	Copy number gain	not provided	GPathogenic
Select item 979958	GRCh37/hg19 12p13.33-13.32(chr12:191242-4683495)x1	ADIPOR2, B4GALNT3 +33 more	Copy number loss	not provided	GPathogenic
Select item 979954	GRCh37/hg19 12p13.33(chr12:1015338-1518434)x3	ERC1, WNK1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 815499	GRCh37/hg19 12p13.33(chr12:1024418-1401311)x3	ERC1, RAD52	Copy number gain	not provided	GLikely benign
Select item 815498	GRCh37/hg19 12p13.33(chr12:1018370-1680695)x3	WNK1, RAD52 +2 more	Copy number gain	not provided	GLikely benign
Select item 815497	GRCh37/hg19 12p13.33(chr12:937798-1289250)x3	ERC1, WNK1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 815496	GRCh37/hg19 12p13.33(chr12:695863-1263167)x3	RAD52, ERC1 +3 more	Copy number gain	not provided	GLikely benign
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 688544	GRCh37/hg19 12p13.33(chr12:988557-1081509)x3	RAD52, WNK1	Copy number gain	not provided	GUncertain significance
Select item 688094	GRCh37/hg19 12p13.33(chr12:1019260-1562637)x3	ERC1, RAD52 +1 more	Copy number gain	not provided	GUncertain significance
Select item 687140	GRCh37/hg19 12p13.33(chr12:683945-1263167)x3	ERC1, NINJ2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 687115	GRCh37/hg19 12p13.33-13.31(chr12:173786-6346092)x1	ADIPOR2, AKAP3 +44 more	Copy number loss	not provided	GPathogenic
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 685635	GRCh37/hg19 12p13.33-13.31(chr12:173786-8393815)x3	ACRBP, ACSM4 +107 more	Copy number gain	not provided	GPathogenic
Select item 685202	GRCh37/hg19 12p13.33(chr12:982093-1115007)x3	ERC1, RAD52 +1 more	Copy number gain	not provided	GUncertain significance
Select item 625811	GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497)	ACRBP, ACSM4 +102 more	Copy number gain	not provided	GPathogenic
Select item 625810	GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292)	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 625809	GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420)	A2M, A2ML1 +193 more	Copy number gain	not provided	GPathogenic
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563988	GRCh37/hg19 12p13.33-13.31(chr12:191242-8122785)x3	ACRBP, ACSM4 +101 more	Copy number gain	not provided	GPathogenic
Select item 563987	GRCh37/hg19 12p13.33-13.31(chr12:173786-6201932)x1	ADIPOR2, AKAP3 +43 more	Copy number loss	not provided	GPathogenic
Select item 563986	GRCh37/hg19 12p13.33-13.31(chr12:173786-6039841)x1	ADIPOR2, AKAP3 +42 more	Copy number loss	not provided	GPathogenic
Select item 563985	GRCh37/hg19 12p13.33-13.31(chr12:173786-5952112)x1	ADIPOR2, AKAP3 +42 more	Copy number loss	not provided	GPathogenic
Select item 563982	GRCh37/hg19 12p13.33-13.32(chr12:173786-4105910)x1	ADIPOR2, B4GALNT3 +27 more	Copy number loss	not provided	GPathogenic

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