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	LOC130000015, LOC130000016 +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	DEFA1B, DEFA3 +3658 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC129999850, LOC129999851 +1038 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	ADAM28, ADAM7 +1103 more	Copy number gain	See cases	GPathogenic
Select item 146718	GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3	LOC126860290, LOC126860291 +687 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	LOC110121192, LOC110121196 +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	AARD, ABRA +3652 more	Copy number gain	See cases	GPathogenic
Select item 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC129999981, LOC129999982 +996 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	LOC130000067, LOC130000068 +3656 more	Copy number gain	See cases	GPathogenic
Select item 146786	GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3	ADAM28, ADAM7 +736 more	Copy number gain	See cases	GPathogenic
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	DMTN, DOK2 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	MTUS1-DT, NAT1 +773 more	Copy number loss	See cases	GPathogenic
Select item 32400	GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1	LOC126860289, LOC126860290 +773 more	Copy number loss	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	LOC129999803, LOC129999804 +1018 more	Copy number gain	See cases	GPathogenic
Select item 150733	GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3	LOC129999922, LOC129999923 +694 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	LOC130000263, LOC130000264 +935 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	LOC113788274, LOC114827823 +510 more	Copy number loss	See cases	GPathogenic
Select item 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	ADAM18, ADAM2 +932 more	Copy number gain	See cases	GPathogenic
Select item 57442	GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3	LOC132089594, LOC132089595 +663 more	Copy number gain	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	ADAM18, ADAM2 +868 more	Copy number gain	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	LOC130000231, LOC130000232 +927 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC126860340, LOC126860341 +927 more	Copy number gain	See cases	GPathogenic
Select item 59763	GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3	LOC130000118, LOC130000119 +703 more	Copy number gain	See cases	GPathogenic
Select item 34276	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC130000005, LOC130000006 +868 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	LOC121740715, LOC124049166 +816 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC130000093, LOC130000094 +927 more	Copy number gain	See cases	GPathogenic
Select item 148997	GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3	LOC124153130, LOC124153131 +651 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	ADAM18, ADAM2 +920 more	Copy number gain	See cases	GPathogenic
Select item 147303	GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	LOC130000259, LOC130000260 +805 more	Copy number gain	See cases	GPathogenic
Select item 57410	GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3	LOC129999968, LOC129999969 +855 more	Copy number gain	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC130000066, LOC130000067 +920 more	Copy number gain	See cases	GPathogenic
Select item 150985	GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	LOC130000067, LOC130000068 +789 more	Copy number gain	See cases	GPathogenic
Select item 59767	GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3	RHOBTB2, SCARA3 +523 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	TNFRSF10A, TNFRSF10A-DT +920 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	ADAM18, ADAM2 +898 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	GPAT4, GPAT4-AS1 +3106 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)	RHOBTB2-related condition +1 more	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	NM_001160036.2(RHOBTB2):c.5A>C (p.Gln2Pro)	RHOBTB2 (Q2P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1965511	NM_001160036.2(RHOBTB2):c.14G>A (p.Arg5Lys)	RHOBTB2 (R5K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1584997	NM_001160036.2(RHOBTB2):c.20G>T (p.Gly7Val)	RHOBTB2 (G7V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1502488	NM_001160036.2(RHOBTB2):c.20G>A (p.Gly7Asp)	RHOBTB2 (G7D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1611454	NM_001160036.2(RHOBTB2):c.21C>A (p.Gly7=)	RHOBTB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1921008	NM_001160036.2(RHOBTB2):c.24C>T (p.Pro8=)	RHOBTB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2812682	NM_001160036.2(RHOBTB2):c.25G>A (p.Asp9Asn)	RHOBTB2 (D9N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2886043	NM_001160036.2(RHOBTB2):c.33C>T (p.Pro11=)	RHOBTB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1620762	NM_001160036.2(RHOBTB2):c.38A>G (p.Lys13Arg)	RHOBTB2 (K13R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2075073	NM_001160036.2(RHOBTB2):c.40A>G (p.Thr14Ala)	RHOBTB2 (T14A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1659123	NM_001160036.2(RHOBTB2):c.42C>T (p.Thr14=)	RHOBTB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2712814	NM_001160036.2(RHOBTB2):c.48A>G (p.Ser16=)	RHOBTB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868925	NM_001160036.2(RHOBTB2):c.54C>T (p.Ser18=)	RHOBTB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1528292	NM_001160036.2(RHOBTB2):c.56+7A>G	RHOBTB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1932957	NM_001160036.2(RHOBTB2):c.56+11A>G	RHOBTB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1643766	NM_001160036.2(RHOBTB2):c.56+13T>C	RHOBTB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2121403	NM_001160036.2(RHOBTB2):c.56+15T>G	RHOBTB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2028658	NM_001160036.2(RHOBTB2):c.56+17T>C	RHOBTB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1958901	NM_001160036.2(RHOBTB2):c.56+19C>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 condition	GLikely benign
Select item 2658474	NM_001160037.2(RHOBTB2):c.9G>A (p.Ala3=)	RHOBTB2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	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)	not provided	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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