RHOBTB2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
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 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	LOC130000032, LOC130000033 +1105 more	Copy number gain	See cases	GPathogenic
Select item 146718	GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3	LOC129999940, LOC129999941 +687 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 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC129999950, LOC129999951 +996 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 146786	GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3	LOC129999950, LOC129999951 +736 more	Copy number gain	See cases	GPathogenic
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	LOC126860300, LOC126860301 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	ADAM28, ADAM7 +773 more	Copy number loss	See cases	GPathogenic
Select item 32400	GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1	XKR5, XKR6 +773 more	Copy number loss	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	DPYSL2, DUSP26 +1020 more	Copy number gain	See cases	GPathogenic
Select item 150733	GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3	LOC126860319, LOC126860320 +696 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	LOC130000106, LOC130000107 +937 more	Copy number gain	See cases	GPathogenic
Select item 149191	GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3	ADAM28, ADAM7 +499 more	Copy number gain	See cases	GPathogenic
Select item 154449	GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1	LOC132089588, LOC132089589 +510 more	Copy number loss	See cases	GPathogenic
Select item 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	LOC130000241, LOC130000242 +934 more	Copy number gain	See cases	GPathogenic
Select item 57442	GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3	ADAM28, ADAM7 +665 more	Copy number gain	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC129999967, LOC129999968 +870 more	Copy number gain	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	KAT6A-AS1, KCNU1 +929 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC130000074, LOC130000075 +929 more	Copy number gain	See cases	GPathogenic
Select item 59763	GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3	TNFRSF10A, TNFRSF10A-DT +705 more	Copy number gain	See cases	GPathogenic
Select item 34276	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	ADAM18, ADAM2 +870 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	LOC124153144, LOC124153145 +818 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC113788268, LOC113788269 +929 more	Copy number gain	See cases	GPathogenic
Select item 148997	GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3	LOC128772328, LOC129389957 +653 more	Copy number gain	See cases	GPathogenic
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 147664	GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3	ADAM28, ADAM7 +567 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC130000303, LOC130000304 +922 more	Copy number gain	See cases	GPathogenic
Select item 147303	GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	LOC113788272, LOC113788273 +807 more	Copy number gain	See cases	GPathogenic
Select item 57410	GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3	LOC130000012, LOC130000013 +857 more	Copy number gain	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 150985	GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	LOC130000050, LOC130000051 +791 more	Copy number gain	See cases	GPathogenic
Select item 59767	GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3	ADAM28, ADAM7 +523 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	LOC130000309, LOC130000310 +900 more	Copy number gain	See cases	GPathogenic
Select item 154680	GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1	ADAM28, ADAM7 +532 more	Copy number loss	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 59770	GRCh38/hg38 8p21.3(chr8:21654619-23001935)x3	BIN3, BIN3-IT1 +119 more	Copy number gain	See cases	GPathogenic
Select item 148813	GRCh38/hg38 8p21.3-21.2(chr8:22946697-25125997)x3	ADAM28, ADAM7 +72 more	Copy number gain	See cases	GUncertain significance
Select item 1294929	NM_001160036.2(RHOBTB2):c.-23-31C>T	RHOBTB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2658473	NM_001160036.2(RHOBTB2):c.-23-3C>T	RHOBTB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265036	NM_001160036.2(RHOBTB2):c.-1G>A	RHOBTB2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 2572293	NM_001160036.2(RHOBTB2):c.2T>C (p.Met1Thr)	RHOBTB2 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1444902	NC_000008.11:g.22994588A>C	RHOBTB2 (Q2P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1965511	NC_000008.11:g.22994597G>A	RHOBTB2 (R5K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1584997	NC_000008.11:g.22994603G>T	RHOBTB2 (G7V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1502488	NC_000008.11:g.22994603G>A	RHOBTB2 (G7D)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1611454	NC_000008.11:g.22994604C>A	RHOBTB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1921008	NC_000008.11:g.22994607C>T	RHOBTB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2812682	NC_000008.11:g.22994608G>A	RHOBTB2 (D9N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2886043	NC_000008.11:g.22994616C>T	RHOBTB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1620762	NC_000008.11:g.22994621A>G	RHOBTB2 (K13R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2075073	NC_000008.11:g.22994623A>G	RHOBTB2 (T14A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1659123	NC_000008.11:g.22994625C>T	RHOBTB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2712814	NC_000008.11:g.22994631A>G	RHOBTB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868925	NC_000008.11:g.22994637C>T	RHOBTB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1528292	NC_000008.11:g.22994646A>G	RHOBTB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1932957	NC_000008.11:g.22994650A>G	RHOBTB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1643766	NC_000008.11:g.22994652T>C	RHOBTB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2121403	NC_000008.11:g.22994654T>G	RHOBTB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2028658	NC_000008.11:g.22994656T>C	RHOBTB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1958901	NC_000008.11:g.22994658C>T	RHOBTB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1243399	NM_001160036.2(RHOBTB2):c.56+1070C>G	RHOBTB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3054504	NM_001160037.2(RHOBTB2):c.8C>A (p.Ala3Glu)	RHOBTB2 (A3E)	Single nucleotide variant (missense variant +1 more)	RHOBTB2-related disorder	GLikely benign
Select item 2658474	NM_001160037.2(RHOBTB2):c.9G>A (p.Ala3=)	RHOBTB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2571311	NM_015178.3(RHOBTB2):c.-438C>G	RHOBTB2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1879706	NM_015178.3(RHOBTB2):c.-122T>G	RHOBTB2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1555858	NM_015178.3(RHOBTB2):c.-10-20G>A	RHOBTB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1994399	NM_015178.3(RHOBTB2):c.-10-11C>A	RHOBTB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1569137	NM_015178.3(RHOBTB2):c.-10-11C>T	RHOBTB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1954875	NM_015178.3(RHOBTB2):c.-10-10T>C	RHOBTB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1522172	NM_015178.3(RHOBTB2):c.-6C>T	RHOBTB2 (R21C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1362851	NM_015178.3(RHOBTB2):c.-5G>A	RHOBTB2 (R6H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2810760	NM_015178.3(RHOBTB2):c.1A>G (p.Met1Val)	RHOBTB2 (M1V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1533656	NM_015178.3(RHOBTB2):c.12C>T (p.Asp4=)	RHOBTB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010863	NM_015178.3(RHOBTB2):c.13A>G (p.Met5Val)	RHOBTB2 (M12V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2881888	NM_015178.3(RHOBTB2):c.33C>T (p.Asn11=)	RHOBTB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1480036	NM_015178.3(RHOBTB2):c.34G>A (p.Val12Ile)	RHOBTB2 (V19I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2808036	NM_015178.3(RHOBTB2):c.36A>G (p.Val12=)	RHOBTB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1306299	NM_015178.3(RHOBTB2):c.47A>G (p.Lys16Arg)	RHOBTB2 (K16R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2778381	NM_015178.3(RHOBTB2):c.52G>A (p.Val18Ile)	RHOBTB2 (V40I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1027750	NM_015178.3(RHOBTB2):c.56T>C (p.Val19Ala)	RHOBTB2 (V19A +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 64	GUncertain significance
Select item 1623029	NM_015178.3(RHOBTB2):c.69C>T (p.Asn23=)	RHOBTB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2123360	NM_015178.3(RHOBTB2):c.71C>T (p.Ala24Val)	RHOBTB2 (A46V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1990466	NM_015178.3(RHOBTB2):c.72C>T (p.Ala24=)	RHOBTB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1993464	NM_015178.3(RHOBTB2):c.73G>A (p.Val25Met)	RHOBTB2 (V32M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1016805	NM_015178.3(RHOBTB2):c.76_83dup (p.Arg29fs)	RHOBTB2 (R29fs +2 more)	Duplication (frameshift variant)	not provided	GLikely benign
Select item 1990467	NM_015178.3(RHOBTB2):c.78T>C (p.Gly26=)	RHOBTB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2832607	NM_015178.3(RHOBTB2):c.80A>G (p.Lys27Arg)	RHOBTB2 (K34R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 785874	NM_015178.3(RHOBTB2):c.90C>A (p.Leu30=)	RHOBTB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2836517	NM_015178.3(RHOBTB2):c.91A>G (p.Ile31Val)	RHOBTB2 (I31V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2092136	NM_015178.3(RHOBTB2):c.100C>T (p.Arg34Cys)	RHOBTB2 (R34C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1946157	NM_015178.3(RHOBTB2):c.101G>A (p.Arg34His)	RHOBTB2 (R34H +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1636239	NM_015178.3(RHOBTB2):c.102C>T (p.Arg34=)	RHOBTB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2584435	NM_015178.3(RHOBTB2):c.103G>T (p.Ala35Ser)	RHOBTB2 (A35S +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 64	GLikely pathogenic
Select item 1934764	NM_015178.3(RHOBTB2):c.103G>A (p.Ala35Thr)	RHOBTB2 (A35T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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