RAD54B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 60380	GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1	LOC130000705, LOC130000706 +327 more	Copy number loss	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1153 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 60381	GRCh38/hg38 8q21.3-22.1(chr8:90940996-94538343)x1	C8orf88, CDH17 +72 more	Copy number loss	See cases	GPathogenic
Select item 60383	GRCh38/hg38 8q21.3-22.1(chr8:92283179-95786443)x1	CCNE2, CDH17 +109 more	Copy number loss	See cases	GPathogenic
Select item 60386	GRCh38/hg38 8q21.3-22.1(chr8:92287062-95786443)x1	CCNE2, CDH17 +109 more	Copy number loss	See cases	GPathogenic
Select item 60387	GRCh38/hg38 8q22.1(chr8:92755532-97792132)x1	CPQ, DPY19L4 +139 more	Copy number loss	See cases	GPathogenic
Select item 147309	GRCh38/hg38 8q22.1(chr8:93038175-95667782)x1	CCNE2, CDH17 +98 more	Copy number loss	See cases	GPathogenic
Select item 722601	NM_012415.3(RAD54B):c.2733del (p.Ter911TyrextTer?)	RAD54B	Deletion (frameshift variant +1 more)	not provided	GLikely benign
Select item 2589831	NM_012415.3(RAD54B):c.2701C>G (p.Gln901Glu)	RAD54B (Q901E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774245	NM_012415.3(RAD54B):c.2639A>G (p.Asp880Gly)	RAD54B (D880G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2297295	NM_012415.3(RAD54B):c.2602A>G (p.Met868Val)	RAD54B (M684V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365425	NM_012415.3(RAD54B):c.2548G>A (p.Asp850Asn)	RAD54B (D850N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2532362	NM_012415.3(RAD54B):c.2543C>A (p.Ser848Tyr)	RAD54B (S664Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212469	NM_012415.3(RAD54B):c.2539G>A (p.Val847Ile)	RAD54B (V663I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2560132	NM_012415.3(RAD54B):c.2536A>G (p.Ile846Val)	RAD54B (I662V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312414	NM_012415.3(RAD54B):c.2450A>G (p.Glu817Gly)	RAD54B (E633G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550137	NM_012415.3(RAD54B):c.2360G>A (p.Gly787Asp)	RAD54B (G787D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722063	NM_012415.3(RAD54B):c.2332A>G (p.Ile778Val)	RAD54B (I594V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3337508	NM_012415.3(RAD54B):c.2303T>C (p.Leu768Pro)	RAD54B (L584P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2410741	NM_012415.3(RAD54B):c.2290C>T (p.His764Tyr)	RAD54B (H764Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308872	NM_012415.3(RAD54B):c.2254T>C (p.Ser752Pro)	RAD54B (S752P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1252579	NM_012415.3(RAD54B):c.2248-59G>A	RAD54B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229467	NM_012415.3(RAD54B):c.2247+318G>A	RAD54B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3151078	NM_012415.3(RAD54B):c.2188A>T (p.Ile730Phe)	RAD54B (I730F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613557	NM_012415.3(RAD54B):c.2179C>T (p.Leu727Phe)	RAD54B (L543F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493745	NM_012415.3(RAD54B):c.2141T>G (p.Phe714Cys)	RAD54B (F530C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151077	NM_012415.3(RAD54B):c.2108T>C (p.Val703Ala)	RAD54B (V703A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273464	NM_012415.3(RAD54B):c.2086A>G (p.Ile696Val)	RAD54B (I512V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3151076	NM_012415.3(RAD54B):c.2048A>G (p.His683Arg)	RAD54B (H499R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151075	NM_012415.3(RAD54B):c.2045G>A (p.Arg682His)	RAD54B (R682H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151074	NM_012415.3(RAD54B):c.2044C>T (p.Arg682Cys)	RAD54B (R498C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1259423	NM_012415.3(RAD54B):c.1985+167G>A	RAD54B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2597819	NM_012415.3(RAD54B):c.1966G>A (p.Glu656Lys)	RAD54B (E472K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406076	NM_012415.3(RAD54B):c.1955C>T (p.Ala652Val)	RAD54B (A468V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151072	NM_012415.3(RAD54B):c.1952T>C (p.Leu651Ser)	RAD54B (L467S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404172	NM_012415.3(RAD54B):c.1930C>G (p.Leu644Val)	RAD54B (L644V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151071	NM_012415.3(RAD54B):c.1845A>T (p.Glu615Asp)	RAD54B (E431D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1267064	NM_012415.3(RAD54B):c.1810-164T>A	RAD54B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290502	NM_012415.3(RAD54B):c.1810-231G>A	RAD54B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 5638	NM_012415.3(RAD54B):c.1778A>G (p.Asn593Ser)	RAD54B (N593S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2540322	NM_012415.3(RAD54B):c.1708T>A (p.Phe570Ile)	RAD54B (F386I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658693	NM_012415.3(RAD54B):c.1546G>A (p.Ala516Thr)	RAD54B (A332T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1228218	NM_012415.3(RAD54B):c.1519-248T>G	RAD54B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3312413	NM_012415.3(RAD54B):c.1427T>C (p.Phe476Ser)	RAD54B (F292S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 870770	NM_012415.3(RAD54B):c.1413del (p.Phe471fs)	RAD54B (F471fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1289330	NM_012415.3(RAD54B):c.1379-166T>C	RAD54B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288208	NM_012415.3(RAD54B):c.1379-321T>G	RAD54B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2219661	NM_012415.3(RAD54B):c.1317T>G (p.Ser439Arg)	RAD54B (S255R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 5639	NM_012415.3(RAD54B):c.1252G>T (p.Asp418Tyr)	RAD54B (D418Y +1 more)	Single nucleotide variant (missense variant)	Carcinoma of colon	GPathogenic
Select item 1230728	NM_012415.3(RAD54B):c.1170+228G>A	RAD54B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 784135	NM_012415.3(RAD54B):c.1014G>A (p.Ser338=)	RAD54B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2592202	NM_012415.3(RAD54B):c.997A>G (p.Thr333Ala)	RAD54B (T333A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1272328	NM_012415.3(RAD54B):c.944+198_944+199del	RAD54B	Deletion (intron variant)	not provided	GBenign
Select item 3151085	NM_012415.3(RAD54B):c.934A>G (p.Met312Val)	RAD54B (M128V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240606	NM_012415.3(RAD54B):c.908G>A (p.Gly303Glu)	RAD54B (G119E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535825	NM_012415.3(RAD54B):c.875T>G (p.Leu292Arg)	RAD54B (L292R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312415	NM_012415.3(RAD54B):c.797C>T (p.Pro266Leu)	RAD54B (P266L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320797	NM_012415.3(RAD54B):c.790G>T (p.Val264Phe)	RAD54B (V80F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1276187	NM_012415.3(RAD54B):c.750T>C (p.Asn250=)	RAD54B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2530378	NM_012415.3(RAD54B):c.692C>T (p.Pro231Leu)	RAD54B (P231L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250107	NM_012415.3(RAD54B):c.683T>A (p.Phe228Tyr)	RAD54B (F228Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 728955	NM_012415.3(RAD54B):c.654G>A (p.Ser218=)	RAD54B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3151082	NM_012415.3(RAD54B):c.653C>T (p.Ser218Leu)	RAD54B (S218L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220353	NM_012415.3(RAD54B):c.629T>C (p.Leu210Pro)	RAD54B (L210P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277480	NM_012415.3(RAD54B):c.590T>C (p.Ile197Thr)	RAD54B (I13T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527027	NM_012415.3(RAD54B):c.571A>T (p.Ile191Leu)	RAD54B (I191L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542105	NM_012415.3(RAD54B):c.550C>A (p.Leu184Met)	RAD54B (L184M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2658694	NM_012415.3(RAD54B):c.500-7_500-3del	RAD54B	Microsatellite (intron variant)	not provided	GBenign
Select item 1294511	NM_012415.3(RAD54B):c.500-155dup	RAD54B	Duplication (intron variant)	not provided	GBenign
Select item 1274411	NM_012415.3(RAD54B):c.499+56G>A	RAD54B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2270406	NM_012415.3(RAD54B):c.471G>T (p.Lys157Asn)	RAD54B (K157N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2295703	NM_012415.3(RAD54B):c.451G>A (p.Gly151Arg)	RAD54B (G151R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2256083	NM_012415.3(RAD54B):c.421T>C (p.Trp141Arg)	RAD54B (W141R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2216934	NM_012415.3(RAD54B):c.356C>A (p.Ser119Tyr)	RAD54B (S119Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1248892	NM_012415.3(RAD54B):c.304+224G>T	RAD54B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2251293	NM_012415.3(RAD54B):c.283A>G (p.Thr95Ala)	RAD54B (T95A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287669	NM_012415.3(RAD54B):c.272C>T (p.Pro91Leu)	RAD54B (P91L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151080	NM_012415.3(RAD54B):c.271C>T (p.Pro91Ser)	RAD54B (P91S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1278247	NM_012415.3(RAD54B):c.136-33G>T	RAD54B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276719	NM_012415.3(RAD54B):c.136-51_136-43del	RAD54B	Microsatellite (intron variant)	not provided	GBenign
Select item 1291364	NM_012415.3(RAD54B):c.136-77A>G	RAD54B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275410	NM_012415.3(RAD54B):c.135+314T>C	RAD54B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249391	NM_012415.3(RAD54B):c.88C>G (p.Leu30Val)	RAD54B (L30V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2591767	NM_012415.3(RAD54B):c.83C>T (p.Pro28Leu)	RAD54B (P28L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151084	NM_012415.3(RAD54B):c.80A>G (p.Asn27Ser)	RAD54B (N27S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532395	NM_012415.3(RAD54B):c.79A>G (p.Asn27Asp)	RAD54B (N27D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1294467	NM_012415.3(RAD54B):c.-16-96T>C	RAD54B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243760	NM_012415.3(RAD54B):c.-16-195T>C	RAD54B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic

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