"Ambry Genetics"[submitter] AND "RHBDF2"[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2678387	NM_001005498.4(RHBDF2):c.2443C>T (p.Arg815Cys)	RHBDF2 (R815C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2613766	NM_001005498.4(RHBDF2):c.2398A>G (p.Asn800Asp)	RHBDF2 (N800D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3314180	NM_001005498.4(RHBDF2):c.2333T>C (p.Val778Ala)	RHBDF2 (V778A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2678328	NM_001005498.4(RHBDF2):c.2174C>T (p.Ala725Val)	RHBDF2 (A725V +1 more)	Single nucleotide variant (missense variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome +1 more	GUncertain significance
Select item 997609	NM_001005498.4(RHBDF2):c.2166C>A (p.Asn722Lys)	RHBDF2 (N722K +1 more)	Single nucleotide variant (missense variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome +1 more	GUncertain significance
Select item 3153993	NM_001005498.4(RHBDF2):c.2132C>T (p.Pro711Leu)	RHBDF2 (P711L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3314178	NM_001005498.4(RHBDF2):c.2057G>A (p.Arg686Gln)	RHBDF2 (R686Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2485450	NM_001005498.4(RHBDF2):c.1987C>T (p.Arg663Cys)	RHBDF2 (R663C +1 more)	Single nucleotide variant (missense variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome +1 more	GUncertain significance
Select item 3314179	NM_001005498.4(RHBDF2):c.1911C>T (p.Gly637=)	RHBDF2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2484292	NM_001005498.4(RHBDF2):c.1737T>G (p.Cys579Trp)	RHBDF2 (C608W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3153992	NM_001005498.4(RHBDF2):c.1706G>A (p.Arg569His)	RHBDF2 (R569H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2485873	NM_001005498.4(RHBDF2):c.1667A>G (p.His556Arg)	RHBDF2 (H585R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3314176	NM_001005498.4(RHBDF2):c.1544C>T (p.Thr515Ile)	RHBDF2 (T515I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 890958	NM_001005498.4(RHBDF2):c.1531G>A (p.Gly511Ser)	RHBDF2 (G511S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 325437	NM_001005498.4(RHBDF2):c.1486A>G (p.Lys496Glu)	RHBDF2 (K525E +1 more)	Single nucleotide variant (missense variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2313849	NM_001005498.4(RHBDF2):c.1459T>G (p.Cys487Gly)	RHBDF2 (C487G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2518707	NM_001005498.4(RHBDF2):c.1451G>A (p.Arg484Gln)	RHBDF2 (R513Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3314175	NM_001005498.4(RHBDF2):c.1385G>A (p.Arg462Gln)	RHBDF2 (R462Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 890959	NM_001005498.4(RHBDF2):c.1375C>G (p.Leu459Val)	RHBDF2 (L488V +1 more)	Single nucleotide variant (missense variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2678389	NM_001005498.4(RHBDF2):c.1345C>T (p.Arg449Trp)	RHBDF2 (R449W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2678370	NM_001005498.4(RHBDF2):c.1305T>G (p.Ile435Met)	RHBDF2 (I435M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2535412	NM_001005498.4(RHBDF2):c.1243G>C (p.Gly415Arg)	RHBDF2 (G444R +1 more)	Single nucleotide variant (missense variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome +1 more	GUncertain significance
Select item 3153990	NM_001005498.4(RHBDF2):c.1213G>C (p.Val405Leu)	RHBDF2 (V405L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2314842	NM_001005498.4(RHBDF2):c.1189G>A (p.Ala397Thr)	RHBDF2 (A426T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2377144	NM_001005498.4(RHBDF2):c.1144G>A (p.Val382Ile)	RHBDF2 (V382I +1 more)	Single nucleotide variant (missense variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome +2 more	GUncertain significance
Select item 2604255	NM_001005498.4(RHBDF2):c.1141T>G (p.Phe381Val)	RHBDF2 (F381V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3153989	NM_001005498.4(RHBDF2):c.1033G>A (p.Val345Met)	RHBDF2 (V374M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2466332	NM_001005498.4(RHBDF2):c.866G>A (p.Arg289Gln)	RHBDF2 (R289Q +1 more)	Single nucleotide variant (missense variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome +1 more	GUncertain significance
Select item 2588340	NM_001005498.4(RHBDF2):c.845C>A (p.Pro282Gln)	RHBDF2 (P282Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3153999	NM_001005498.4(RHBDF2):c.781G>T (p.Asp261Tyr)	RHBDF2 (D290Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 325449	NM_001005498.4(RHBDF2):c.704G>A (p.Arg235Gln)	RHBDF2 (R264Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3153998	NM_001005498.4(RHBDF2):c.703C>T (p.Arg235Trp)	RHBDF2 (R235W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3153997	NM_001005498.4(RHBDF2):c.647T>G (p.Leu216Trp)	RHBDF2 (L216W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 890465	NM_001005498.4(RHBDF2):c.617G>C (p.Arg206Pro)	RHBDF2 (R206P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1319625	NM_001005498.4(RHBDF2):c.616C>T (p.Arg206Cys)	RHBDF2 (R206C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 325453	NM_001005498.4(RHBDF2):c.613C>T (p.Arg205Cys)	RHBDF2 (R234C +1 more)	Single nucleotide variant (missense variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3153996	NM_001005498.4(RHBDF2):c.509C>T (p.Pro170Leu)	RHBDF2 (P199L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2546390	NM_001005498.4(RHBDF2):c.487C>T (p.Arg163Trp)	RHBDF2 (R163W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3314177	NM_001005498.4(RHBDF2):c.422C>T (p.Pro141Leu)	RHBDF2 (P141L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 777223	NM_001005498.4(RHBDF2):c.392G>A (p.Arg131His)	RHBDF2 (R131H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 325458	NM_001005498.4(RHBDF2):c.391C>T (p.Arg131Cys)	RHBDF2 (R160C +1 more)	Single nucleotide variant (missense variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3153995	NM_001005498.4(RHBDF2):c.365A>G (p.Tyr122Cys)	RHBDF2 (Y122C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 808318	NM_001005498.4(RHBDF2):c.335G>A (p.Arg112His)	RHBDF2 (R112H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 891027	NM_001005498.4(RHBDF2):c.319C>T (p.Arg107Trp)	RHBDF2 (R136W +1 more)	Single nucleotide variant (missense variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3153994	NM_001005498.4(RHBDF2):c.248C>A (p.Ala83Asp)	RHBDF2 (A112D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 892252	NM_001005498.4(RHBDF2):c.203G>A (p.Arg68Gln)	RHBDF2 (R97Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3314182	NM_001005498.4(RHBDF2):c.184C>T (p.Leu62Phe)	RHBDF2 (L62F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2515436	NM_001005498.4(RHBDF2):c.178G>T (p.Val60Phe)	RHBDF2 (V89F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2521778	NM_001005498.4(RHBDF2):c.164C>A (p.Ala55Asp)	RHBDF2 (A84D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1409181	NM_001005498.4(RHBDF2):c.155A>G (p.Lys52Arg)	RHBDF2 (K52R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2551327	NM_001005498.4(RHBDF2):c.151-23G>A	RHBDF2 (C72Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2338354	NM_001005498.4(RHBDF2):c.151-41C>G	RHBDF2 (A66G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2294859	NM_001005498.4(RHBDF2):c.151-59G>A	RHBDF2 (S60N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2678384	NM_001005498.4(RHBDF2):c.151-86G>A	RHBDF2 (G51D)	Single nucleotide variant (missense variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome +1 more	GUncertain significance
Select item 2594650	NM_001005498.4(RHBDF2):c.139A>G (p.Met47Val)	RHBDF2 (M47V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2487349	NM_001005498.4(RHBDF2):c.95C>T (p.Pro32Leu)	RHBDF2 (P32L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3314181	NM_001005498.4(RHBDF2):c.53G>A (p.Arg18His)	RHBDF2 (R18H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2723722	NM_001005498.4(RHBDF2):c.34T>A (p.Ser12Thr)	RHBDF2 (S12T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2307397	NM_001005498.4(RHBDF2):c.32T>G (p.Val11Gly)	RHBDF2 (V11G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 325467	NM_001005498.4(RHBDF2):c.31G>A (p.Val11Met)	RHBDF2 (V11M)	Single nucleotide variant (missense variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome +1 more	GConflicting classifications of pathogenicity

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Items: 60