ClinVar for Gene (Select 64285) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3314173	NM_022450.5(RHBDF1):c.1339G>A (p.Val447Ile)	RHBDF1 (V447I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314172	NM_022450.5(RHBDF1):c.611G>T (p.Arg204Leu)	RHBDF1 (R204L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314171	NM_022450.5(RHBDF1):c.26C>T (p.Thr9Met)	RHBDF1 (T9M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314170	NM_022450.5(RHBDF1):c.1603C>T (p.Pro535Ser)	RHBDF1 (P535S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314169	NM_022450.5(RHBDF1):c.364C>T (p.Arg122Trp)	RHBDF1 (R122W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243562	NC_000016.9:g.(?_97132)_(148319_?)dup	SNRNP25, MPG +3 more	Duplication	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 3243555	NC_000016.9:g.(?_97132)_(150527_?)del	MPG, NPRL3 +3 more	Deletion	Epilepsy, familial focal, with variable foci 3	GPathogenic
Select item 3243554	NC_000016.9:g.(?_97132)_(167394_?)del	MPG, NPRL3 +3 more	Deletion	Epilepsy, familial focal, with variable foci 3	GPathogenic
Select item 3243550	NC_000016.9:g.(?_97132)_(143343_?)del	MPG, NPRL3 +3 more	Deletion	Epilepsy, familial focal, with variable foci 3	GPathogenic
Select item 3153988	NM_022450.5(RHBDF1):c.713G>A (p.Arg238His)	RHBDF1 (R238H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153987	NM_022450.5(RHBDF1):c.677G>A (p.Arg226His)	RHBDF1 (R226H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153985	NM_022450.5(RHBDF1):c.662C>T (p.Ala221Val)	RHBDF1 (A221V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153984	NM_022450.5(RHBDF1):c.623G>T (p.Arg208Leu)	RHBDF1 (R208L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153982	NM_022450.5(RHBDF1):c.218G>A (p.Arg73His)	RHBDF1 (R73H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153981	NM_022450.5(RHBDF1):c.2173G>C (p.Gly725Arg)	RHBDF1 (G725R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153980	NM_022450.5(RHBDF1):c.2107G>A (p.Gly703Ser)	RHBDF1 (G703S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153978	NM_022450.5(RHBDF1):c.1702G>C (p.Glu568Gln)	RHBDF1 (E568Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153977	NM_022450.5(RHBDF1):c.1673C>T (p.Pro558Leu)	RHBDF1 (P558L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153976	NM_022450.5(RHBDF1):c.1594C>T (p.Pro532Ser)	RHBDF1 (P532S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153974	NM_022450.5(RHBDF1):c.1586C>T (p.Pro529Leu)	RHBDF1 (P529L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153973	NM_022450.5(RHBDF1):c.1547A>G (p.Glu516Gly)	RHBDF1 (E516G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153972	NM_022450.5(RHBDF1):c.1493A>G (p.His498Arg)	RHBDF1 (H498R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153971	NM_022450.5(RHBDF1):c.1331A>C (p.Asn444Thr)	RHBDF1 (N444T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685537	GRCh37/hg19 16p13.3(chr16:85881-470832)x1	ARHGDIG, AXIN1 +18 more	Copy number loss	not provided	GUncertain significance
Select item 2685536	GRCh37/hg19 16p13.3(chr16:85881-1657611)x1	PRR35, ANTKMT +65 more	Copy number loss	not provided	GPathogenic
Select item 2645769	NM_022450.5(RHBDF1):c.180T>G (p.Ser60=)	RHBDF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645768	NM_022450.5(RHBDF1):c.1108C>T (p.Pro370Ser)	RHBDF1 (P370S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2645767	NM_022450.5(RHBDF1):c.1773C>T (p.Asp591=)	RHBDF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645766	NM_022450.5(RHBDF1):c.2266C>A (p.Leu756Ile)	RHBDF1 (L756I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2621758	NM_022450.5(RHBDF1):c.1549G>C (p.Glu517Gln)	RHBDF1 (E517Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621695	NM_022450.5(RHBDF1):c.1700C>T (p.Pro567Leu)	RHBDF1 (P567L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621188	NM_022450.5(RHBDF1):c.68A>C (p.Asp23Ala)	RHBDF1 (D23A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616731	NM_022450.5(RHBDF1):c.2072G>A (p.Arg691His)	RHBDF1 (R691H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615052	NM_022450.5(RHBDF1):c.1016G>A (p.Arg339Gln)	RHBDF1 (R339Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613337	NM_022450.5(RHBDF1):c.222G>T (p.Gln74His)	RHBDF1 (Q74H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609882	NM_022450.5(RHBDF1):c.544G>A (p.Val182Ile)	RHBDF1 (V182I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605272	NM_022450.5(RHBDF1):c.2382G>C (p.Lys794Asn)	RHBDF1 (K794N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595810	NM_022450.5(RHBDF1):c.206C>T (p.Pro69Leu)	RHBDF1 (P69L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589265	NM_022450.5(RHBDF1):c.548C>T (p.Thr183Met)	RHBDF1 (T183M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570436	NM_022450.5(RHBDF1):c.1480G>C (p.Glu494Gln)	RHBDF1 (E494Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561489	NM_022450.5(RHBDF1):c.2482C>T (p.Arg828Cys)	RHBDF1 (R828C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536907	NM_022450.5(RHBDF1):c.536A>G (p.His179Arg)	RHBDF1 (H179R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534524	NM_022450.5(RHBDF1):c.361C>A (p.Leu121Ile)	RHBDF1 (L121I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2532708	NM_022450.5(RHBDF1):c.2395C>T (p.Arg799Trp)	RHBDF1 (R799W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525544	NM_022450.5(RHBDF1):c.1790G>A (p.Arg597Gln)	RHBDF1 (R597Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518346	NM_022450.5(RHBDF1):c.380C>T (p.Pro127Leu)	RHBDF1 (P127L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496047	NM_022450.5(RHBDF1):c.1628A>G (p.Gln543Arg)	RHBDF1 (Q543R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478291	NM_022450.5(RHBDF1):c.515C>T (p.Ala172Val)	RHBDF1 (A172V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469246	NM_022450.5(RHBDF1):c.307C>T (p.Arg103Cys)	RHBDF1 (R103C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460119	NM_022450.5(RHBDF1):c.794G>A (p.Arg265Gln)	RHBDF1 (R265Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411880	NM_022450.5(RHBDF1):c.244C>T (p.Arg82Cys)	RHBDF1 (R82C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399247	NM_022450.5(RHBDF1):c.704G>T (p.Arg235Leu)	RHBDF1 (R235L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388629	NM_022450.5(RHBDF1):c.511A>G (p.Thr171Ala)	RHBDF1 (T171A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387238	NM_022450.5(RHBDF1):c.1930T>C (p.Phe644Leu)	RHBDF1 (F644L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375533	NM_022450.5(RHBDF1):c.128G>A (p.Arg43Gln)	RHBDF1 (R43Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369707	NM_022450.5(RHBDF1):c.40C>T (p.Arg14Cys)	RHBDF1 (R14C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366722	NM_022450.5(RHBDF1):c.334C>T (p.Arg112Cys)	RHBDF1 (R112C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358807	NM_022450.5(RHBDF1):c.700C>T (p.Arg234Cys)	RHBDF1 (R234C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348522	NM_022450.5(RHBDF1):c.1834C>T (p.Arg612Trp)	RHBDF1 (R612W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341957	NM_022450.5(RHBDF1):c.650G>A (p.Arg217Gln)	RHBDF1 (R217Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335878	NM_022450.5(RHBDF1):c.2453T>C (p.Leu818Pro)	RHBDF1 (L818P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330002	NM_022450.5(RHBDF1):c.682G>A (p.Val228Ile)	RHBDF1 (V228I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320014	NM_022450.5(RHBDF1):c.716G>C (p.Arg239Pro)	RHBDF1 (R239P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313203	NM_022450.5(RHBDF1):c.1835G>A (p.Arg612Gln)	RHBDF1 (R612Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313168	NM_022450.5(RHBDF1):c.412G>A (p.Glu138Lys)	RHBDF1 (E138K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312749	NM_022450.5(RHBDF1):c.283A>G (p.Ser95Gly)	RHBDF1 (S95G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307905	NM_022450.5(RHBDF1):c.704G>C (p.Arg235Pro)	RHBDF1 (R235P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297770	NM_022450.5(RHBDF1):c.196C>G (p.Leu66Val)	RHBDF1 (L66V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293612	NM_022450.5(RHBDF1):c.1177A>G (p.Lys393Glu)	RHBDF1 (K393E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281338	NM_022450.5(RHBDF1):c.392A>G (p.Asn131Ser)	RHBDF1 (N131S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274470	NM_022450.5(RHBDF1):c.1383C>G (p.Ile461Met)	RHBDF1 (I461M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262222	NM_022450.5(RHBDF1):c.586C>T (p.Arg196Cys)	RHBDF1 (R196C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254203	NM_022450.5(RHBDF1):c.1518C>G (p.Asp506Glu)	RHBDF1 (D506E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247634	NM_022450.5(RHBDF1):c.103C>T (p.Pro35Ser)	RHBDF1 (P35S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236375	NM_022450.5(RHBDF1):c.922C>T (p.Arg308Cys)	RHBDF1 (R308C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219250	NM_022450.5(RHBDF1):c.596T>A (p.Phe199Tyr)	RHBDF1 (F199Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205186	NM_022450.5(RHBDF1):c.653C>T (p.Ala218Val)	RHBDF1 (A218V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808731	GRCh37/hg19 16p13.3(chr16:85881-1350186)x1	ANTKMT, ARHGDIG +53 more	Copy number loss	not provided	GPathogenic
Select item 1808170	GRCh37/hg19 16p13.3(chr16:106989-293949)x1	FAM234A, HBA1 +9 more	Copy number loss	not provided	GUncertain significance
Select item 1710928	GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 1684554	GRCh37/hg19 16p13.3(chr16:96766-137939)x1	POLR3K, RHBDF1 +3 more	Copy number loss	See cases	GUncertain significance
Select item 1526481	GRCh37/hg19 16p13.3(chr16:85880-1468828)	ANTKMT, MRPL28 +58 more	Copy number loss	not specified	GPathogenic
Select item 1526480	GRCh37/hg19 16p13.3(chr16:85880-754083)	WDR90, WFIKKN1 +34 more	Copy number loss	not specified	GPathogenic
Select item 1459499	NC_000016.9:g.(?_97132)_(163851_?)del	HBA2, MPG +4 more	Deletion	not provided	GPathogenic
Select item 1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	JPT2, KCTD5 +188 more	Copy number gain	not provided	GPathogenic
Select item 980573	GRCh37/hg19 16p13.3(chr16:85880-5249457)x3	ABCA3, ADCY9 +188 more	Copy number gain	not provided	GPathogenic
Select item 831357	NC_000016.9:g.(?_97132)_(193701_?)del	HBA2, MPG +4 more	Deletion	not provided	GPathogenic
Select item 815767	GRCh37/hg19 16p13.3(chr16:106988-735154)x3	PRR35, AXIN1 +32 more	Copy number gain	not provided	GUncertain significance
Select item 815766	GRCh37/hg19 16p13.3(chr16:85880-1166355)x1	SNRNP25, C1QTNF8 +48 more	Copy number loss	not provided	GPathogenic
Select item 779966	NM_022450.5(RHBDF1):c.207G>A (p.Pro69=)	RHBDF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778498	NM_022450.5(RHBDF1):c.701G>A (p.Arg234His)	RHBDF1 (R234H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 776949	NM_022450.5(RHBDF1):c.1050G>A (p.Pro350=)	RHBDF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 771010	NM_022450.5(RHBDF1):c.121C>T (p.Leu41=)	RHBDF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 745876	NM_022450.5(RHBDF1):c.27G>A (p.Thr9=)	RHBDF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 716412	NM_022450.5(RHBDF1):c.172C>T (p.His58Tyr)	RHBDF1 (H58Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 711635	NM_022450.5(RHBDF1):c.399G>A (p.Ser133=)	RHBDF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 711634	NM_022450.5(RHBDF1):c.1953C>T (p.Asp651=)	RHBDF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688811	GRCh37/hg19 16p13.3(chr16:85880-111198)x3	POLR3K, RHBDF1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 688348	GRCh37/hg19 16p13.3(chr16:85880-2053328)x1	ANTKMT, ARHGDIG +89 more	Copy number loss	not provided	GPathogenic
Select item 687431	GRCh37/hg19 16p13.3(chr16:85880-1468459)x1	ANTKMT, ARHGDIG +58 more	Copy number loss	not provided	GPathogenic

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