ClinVar for Gene (Select 54665) - ClinVar

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Links from Gene

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3315509	NM_018364.5(RSBN1):c.845G>T (p.Cys282Phe)	RSBN1 (C282F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315508	NM_018364.5(RSBN1):c.77G>A (p.Arg26Gln)	RSBN1 (R26Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315507	NM_018364.5(RSBN1):c.1156A>G (p.Met386Val)	RSBN1 (M386V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156598	NM_018364.5(RSBN1):c.915T>A (p.Asn305Lys)	RSBN1 (N305K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156597	NM_018364.5(RSBN1):c.796A>G (p.Met266Val)	RSBN1 (M266V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156596	NM_018364.5(RSBN1):c.614G>T (p.Ser205Ile)	RSBN1 (S205I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156595	NM_018364.5(RSBN1):c.558G>C (p.Lys186Asn)	RSBN1 (K186N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156594	NM_018364.5(RSBN1):c.552G>T (p.Lys184Asn)	RSBN1 (K184N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156593	NM_018364.5(RSBN1):c.484C>G (p.Leu162Val)	RSBN1 (L162V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156592	NM_018364.5(RSBN1):c.467C>G (p.Pro156Arg)	RSBN1 (P156R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156591	NM_018364.5(RSBN1):c.460G>A (p.Ala154Thr)	RSBN1 (A154T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156590	NM_018364.5(RSBN1):c.1066T>C (p.Phe356Leu)	RSBN1 (F356L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156589	NM_018364.5(RSBN1):c.104G>T (p.Gly35Val)	RSBN1 (G35V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685819	GRCh37/hg19 1p13.2(chr1:114121742-114665485)x3	BCL2L15, DCLRE1B +8 more	Copy number gain	not provided	GUncertain significance
Select item 2685577	GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1	ADORA3, AHCYL1 +77 more	Copy number loss	not provided	GPathogenic
Select item 2550244	NM_018364.5(RSBN1):c.2314C>G (p.Gln772Glu)	RSBN1 (Q772E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548474	NM_018364.5(RSBN1):c.2105A>G (p.Lys702Arg)	RSBN1 (K702R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520042	NM_018364.5(RSBN1):c.395C>T (p.Pro132Leu)	RSBN1 (P132L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519333	NM_018364.5(RSBN1):c.2141C>G (p.Thr714Arg)	RSBN1 (T714R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488978	NM_018364.5(RSBN1):c.488C>T (p.Pro163Leu)	RSBN1 (P163L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484975	NM_018364.5(RSBN1):c.1396T>A (p.Cys466Ser)	RSBN1 (C466S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461805	NM_018364.5(RSBN1):c.33G>C (p.Lys11Asn)	RSBN1 (K11N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425617	NC_000001.10:g.(?_112318699)_(115576848_?)del	AMPD1, AP4B1 +28 more	Deletion	Hereditary spastic paraplegia 47	GPathogenic
Select item 2424614	NC_000001.10:g.(?_111145905)_(114454813_?)del	ADORA3, AP4B1 +34 more	Deletion	not provided	GPathogenic
Select item 2424476	NC_000001.10:g.(?_113456513)_(116311162_?)dup	AMPD1, AP4B1 +23 more	Duplication	RASopathy	GUncertain significance
Select item 2377321	NM_018364.5(RSBN1):c.2395A>G (p.Thr799Ala)	RSBN1 (T799A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354703	NM_018364.5(RSBN1):c.2253G>C (p.Gln751His)	RSBN1 (Q751H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353827	NM_018364.5(RSBN1):c.1022A>G (p.Gln341Arg)	RSBN1 (Q341R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335017	NM_018364.5(RSBN1):c.1159G>A (p.Glu387Lys)	RSBN1 (E387K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331553	NM_018364.5(RSBN1):c.901A>G (p.Thr301Ala)	RSBN1 (T301A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323554	NM_018364.5(RSBN1):c.841G>A (p.Val281Ile)	RSBN1 (V281I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320180	NM_018364.5(RSBN1):c.831A>T (p.Glu277Asp)	RSBN1 (E277D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312400	NM_018364.5(RSBN1):c.2072C>T (p.Ala691Val)	RSBN1 (A691V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311959	NM_018364.5(RSBN1):c.127T>C (p.Cys43Arg)	RSBN1 (C43R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306345	NM_018364.5(RSBN1):c.811C>T (p.Leu271Phe)	RSBN1 (L271F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300716	NM_018364.5(RSBN1):c.130G>A (p.Val44Met)	RSBN1 (V44M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296540	NM_018364.5(RSBN1):c.1745A>G (p.His582Arg)	RSBN1 (H582R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276385	NM_018364.5(RSBN1):c.466C>T (p.Pro156Ser)	RSBN1 (P156S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244552	NM_018364.5(RSBN1):c.1346A>G (p.Glu449Gly)	RSBN1 (E449G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241501	NM_018364.5(RSBN1):c.638A>C (p.His213Pro)	RSBN1 (H213P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235890	NM_018364.5(RSBN1):c.11C>A (p.Ser4Tyr)	RSBN1 (S4Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1527270	GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783)	NHLH2, NOTCH2 +78 more	Copy number gain	not specified	GPathogenic
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 814118	GRCh37/hg19 1p13.2-13.1(chr1:114024461-116189135)x1	VANGL1, TSHB +20 more	Copy number loss	not provided	GLikely pathogenic
Select item 791807	NM_018364.5(RSBN1):c.1713C>T (p.Arg571=)	RSBN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441879	GRCh37/hg19 1p13.2(chr1:114011163-114803749)x3	AP4B1, BCL2L15 +8 more	Copy number gain	See cases	GUncertain significance
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	See cases	GPathogenic
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 52