"Ambry Genetics"[submitter] AND "RHOBTB2"[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1491653	NM_015178.3(RHOBTB2):c.332A>G (p.Asn111Ser)	RHOBTB2 (N133S +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2110571	NM_015178.3(RHOBTB2):c.469C>T (p.Arg157Ter)	RHOBTB2 (R164* +2 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2609039	NM_015178.3(RHOBTB2):c.506T>G (p.Leu169Arg)	RHOBTB2 (L169R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462568	NM_015178.3(RHOBTB2):c.690G>C (p.Gln230His)	RHOBTB2 (Q237H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1623369	NM_015178.3(RHOBTB2):c.716C>T (p.Pro239Leu)	RHOBTB2 (P239L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1111820	NM_015178.3(RHOBTB2):c.734T>C (p.Val245Ala)	RHOBTB2 (V245A +2 more)	Single nucleotide variant (missense variant)	RHOBTB2-related condition +2 more	GBenign/Likely benign
Select item 2291814	NM_015178.3(RHOBTB2):c.739_743dup (p.Pro249fs)	RHOBTB2 (P249fs +2 more)	Duplication (frameshift variant)	Inborn genetic diseases	GUncertain significance
Select item 2171908	NM_015178.3(RHOBTB2):c.757G>A (p.Glu253Lys)	RHOBTB2 (E253K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1403757	NM_015178.3(RHOBTB2):c.823C>T (p.Arg275Trp)	RHOBTB2 (R282W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1013025	NM_015178.3(RHOBTB2):c.830G>A (p.Arg277His)	RHOBTB2 (R277H +2 more)	Single nucleotide variant (missense variant)	RHOBTB2-related condition +2 more	GLikely benign
Select item 2496237	NM_015178.3(RHOBTB2):c.895G>C (p.Asp299His)	RHOBTB2 (D321H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1672788	NM_015178.3(RHOBTB2):c.926C>T (p.Ser309Leu)	RHOBTB2 (S309L +2 more)	Single nucleotide variant (missense variant)	RHOBTB2-related condition +2 more	GLikely benign
Select item 1669698	NM_015178.3(RHOBTB2):c.974A>G (p.Gln325Arg)	RHOBTB2 (Q325R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2112441	NM_015178.3(RHOBTB2):c.976C>T (p.His326Tyr)	RHOBTB2 (H326Y +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1368260	NM_015178.3(RHOBTB2):c.979C>T (p.His327Tyr)	RHOBTB2 (H327Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1626499	NM_015178.3(RHOBTB2):c.1022G>A (p.Arg341Gln)	RHOBTB2 (R341Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1341816	NM_015178.3(RHOBTB2):c.1039G>A (p.Val347Met)	RHOBTB2 (V347M +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1013026	NM_015178.3(RHOBTB2):c.1102G>A (p.Asp368Asn)	RHOBTB2 (D368N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2551504	NM_015178.3(RHOBTB2):c.1288C>T (p.Leu430Phe)	RHOBTB2 (L452F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1412544	NM_015178.3(RHOBTB2):c.1328G>A (p.Arg443His)	RHOBTB2 (R443H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 985367	NM_015178.3(RHOBTB2):c.1346C>T (p.Ala449Val)	RHOBTB2 (A449V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 545417	NM_015178.3(RHOBTB2):c.1382G>A (p.Arg461His)	RHOBTB2 (R483H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 2621189	NM_015178.3(RHOBTB2):c.1450G>A (p.Val484Ile)	RHOBTB2 (V491I +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 521853	NM_015178.3(RHOBTB2):c.1462A>G (p.Asn488Asp)	RHOBTB2 (N510D +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 64 +1 more	GLikely pathogenic
Select item 495261	NM_015178.3(RHOBTB2):c.1465C>T (p.Arg489Trp)	RHOBTB2 (R511W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 545418	NM_015178.3(RHOBTB2):c.1466G>A (p.Arg489Gln)	RHOBTB2 (R511Q +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 2068036	NM_015178.3(RHOBTB2):c.1468G>A (p.Val490Ile)	RHOBTB2 (V490I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2265669	NM_015178.3(RHOBTB2):c.1630C>G (p.Pro544Ala)	RHOBTB2 (P551A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2264390	NM_015178.3(RHOBTB2):c.1684dup (p.Met562fs)	RHOBTB2 (M569fs +2 more)	Duplication (frameshift variant)	Inborn genetic diseases	GUncertain significance
Select item 2535010	NM_015178.3(RHOBTB2):c.1699C>G (p.Pro567Ala)	RHOBTB2 (P567A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1549856	NM_015178.3(RHOBTB2):c.1702G>A (p.Asp568Asn)	RHOBTB2 (D568N +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1359870	NM_015178.3(RHOBTB2):c.1789G>A (p.Gly597Arg)	RHOBTB2 (G597R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1959537	NM_015178.3(RHOBTB2):c.1802C>T (p.Ala601Val)	RHOBTB2 (A601V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1924659	NM_015178.3(RHOBTB2):c.1851A>T (p.Glu617Asp)	RHOBTB2 (E624D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1354467	NM_015178.3(RHOBTB2):c.1923C>A (p.Asn641Lys)	RHOBTB2 (N641K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1920976	NM_015178.3(RHOBTB2):c.1933_1935delinsTAC (p.Lys645Tyr)	RHOBTB2 (K645Y +2 more)	Indel (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2316111	NM_015178.3(RHOBTB2):c.1935G>C (p.Lys645Asn)	RHOBTB2 (K645N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485956	NM_015178.3(RHOBTB2):c.1988A>G (p.Lys663Arg)	RHOBTB2 (K663R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1507873	NM_015178.3(RHOBTB2):c.2044C>T (p.Arg682Trp)	RHOBTB2 (R689W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2494171	NM_015178.3(RHOBTB2):c.2056G>A (p.Glu686Lys)	RHOBTB2 (E708K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1383203	NM_015178.3(RHOBTB2):c.2099G>A (p.Arg700His)	RHOBTB2 (R700H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1165842	NM_015178.3(RHOBTB2):c.2129C>T (p.Pro710Leu)	RHOBTB2 (P710L +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 64 +2 more	GBenign/Likely benign

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Items: 42