RBSN[Gene Name] - ClinVar

Search results

Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 1703229	Single allele	HDAC11, LOC126806611 +244 more	Deletion	3p- syndrome	GPathogenic
Select item 155700	GRCh38/hg38 3p25.1-24.3(chr3:14360747-21656134)x4	LOC132088880, LOC132088882 +214 more	Copy number gain	See cases	GPathogenic
Select item 3152639	NM_022340.4(RBSN):c.2348C>G (p.Thr783Ser)	RBSN (T783S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312398	NM_022340.4(RBSN):c.2341G>T (p.Gly781Trp)	RBSN (G781W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653592	NM_022340.4(RBSN):c.2322C>T (p.His774=)	RBSN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2347825	NM_022340.4(RBSN):c.2308C>T (p.Arg770Trp)	RBSN (R770W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605616	NM_022340.4(RBSN):c.2285T>C (p.Val762Ala)	RBSN (V762A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524724	NM_022340.4(RBSN):c.2273G>A (p.Arg758His)	RBSN (R758H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718312	NM_022340.4(RBSN):c.2268C>T (p.Cys756=)	RBSN	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2205447	NM_022340.4(RBSN):c.2229C>G (p.Ile743Met)	RBSN (I743M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152637	NM_022340.4(RBSN):c.2165T>C (p.Met722Thr)	RBSN (M722T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550386	NM_022340.4(RBSN):c.2134G>A (p.Glu712Lys)	RBSN (E712K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333518	NM_022340.4(RBSN):c.2111C>T (p.Pro704Leu)	RBSN (P704L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775848	NM_022340.4(RBSN):c.2082C>T (p.Asp694=)	RBSN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3152636	NM_022340.4(RBSN):c.2060C>T (p.Pro687Leu)	RBSN (P687L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373768	NM_022340.4(RBSN):c.2038A>T (p.Ile680Phe)	RBSN (I680F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351150	NM_022340.4(RBSN):c.2007G>C (p.Glu669Asp)	RBSN (E669D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534138	NM_022340.4(RBSN):c.2005G>A (p.Glu669Lys)	RBSN (E669K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152634	NM_022340.4(RBSN):c.1991T>C (p.Phe664Ser)	RBSN (F664S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372719	NM_022340.4(RBSN):c.1984A>G (p.Asn662Asp)	RBSN (N662D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293180	NM_022340.4(RBSN):c.1972C>G (p.Leu658Val)	RBSN (L658V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465188	NM_022340.4(RBSN):c.1967G>C (p.Arg656Pro)	RBSN (R656P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313387	NM_022340.4(RBSN):c.1966C>T (p.Arg656Cys)	RBSN (R656C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364024	NM_022340.4(RBSN):c.1945G>T (p.Val649Phe)	RBSN (V649F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152633	NM_022340.4(RBSN):c.1816G>A (p.Val606Ile)	RBSN (V606I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264103	NM_022340.4(RBSN):c.1753G>T (p.Ala585Ser)	RBSN (A585S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310562	NM_022340.4(RBSN):c.1730C>A (p.Ser577Tyr)	RBSN (S577Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313386	NM_022340.4(RBSN):c.1724T>C (p.Leu575Pro)	RBSN (L575P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152632	NM_022340.4(RBSN):c.1639C>T (p.Arg547Trp)	RBSN (R547W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517543	NM_022340.4(RBSN):c.1634G>A (p.Arg545Gln)	RBSN (R545Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472987	NM_022340.4(RBSN):c.1631C>T (p.Thr544Ile)	RBSN (T544I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152631	NM_022340.4(RBSN):c.1606C>G (p.Gln536Glu)	RBSN (Q536E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330308	NM_022340.4(RBSN):c.1582C>T (p.Arg528Trp)	RBSN (R528W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2635054	NM_022340.4(RBSN):c.1577G>A (p.Arg526His)	RBSN (R526H)	Single nucleotide variant (missense variant)	RBSN-related disorder	GUncertain significance
Select item 2265859	NM_022340.4(RBSN):c.1570A>G (p.Met524Val)	RBSN (M524V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 764589	NM_022340.4(RBSN):c.1482C>T (p.Asp494=)	RBSN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3152630	NM_022340.4(RBSN):c.1469G>A (p.Arg490Gln)	RBSN (R490Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456941	NM_022340.4(RBSN):c.1435A>G (p.Met479Val)	RBSN (M479V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389775	NM_022340.4(RBSN):c.1427C>T (p.Ala476Val)	RBSN (A476V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590153	NM_022340.4(RBSN):c.1291C>T (p.Arg431Cys)	RBSN (R431C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 156371	NM_022340.4(RBSN):c.1273G>A (p.Gly425Arg)	RBSN (G425R)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 780378	NM_022340.4(RBSN):c.1266G>A (p.Ala422=)	RBSN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2458651	NM_022340.4(RBSN):c.1265C>T (p.Ala422Val)	RBSN (A422V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388132	NM_022340.4(RBSN):c.1255G>C (p.Ala419Pro)	RBSN (A419P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725270	NM_022340.4(RBSN):c.1197G>A (p.Val399=)	RBSN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3152629	NM_022340.4(RBSN):c.1090C>T (p.Leu364Phe)	RBSN (L364F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791910	NM_022340.4(RBSN):c.1065G>A (p.Gln355=)	RBSN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 761689	NM_022340.4(RBSN):c.1060C>T (p.Leu354=)	RBSN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2256180	NM_022340.4(RBSN):c.1006A>G (p.Ile336Val)	RBSN (I336V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333820	NM_022340.4(RBSN):c.974T>C (p.Val325Ala)	RBSN (V325A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210740	NM_022340.4(RBSN):c.946A>G (p.Ser316Gly)	RBSN (S316G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313388	NM_022340.4(RBSN):c.856A>C (p.Met286Leu)	RBSN (M286L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606375	NM_022340.4(RBSN):c.856A>G (p.Met286Val)	RBSN (M286V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778064	NM_022340.4(RBSN):c.840+10G>A	RBSN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 786002	NM_022340.4(RBSN):c.840+7C>T	RBSN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3313389	NM_022340.4(RBSN):c.761A>G (p.His254Arg)	RBSN (H254R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238603	NM_022340.4(RBSN):c.749G>A (p.Arg250His)	RBSN (R250H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460908	NM_022340.4(RBSN):c.743G>A (p.Arg248Gln)	RBSN (R248Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345338	NM_022340.4(RBSN):c.700A>G (p.Met234Val)	RBSN (M234V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3313390	NM_022340.4(RBSN):c.659C>T (p.Pro220Leu)	RBSN (P220L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285892	NM_022340.4(RBSN):c.557T>C (p.Met186Thr)	RBSN (M186T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3340063	NM_022340.4(RBSN):c.547G>A (p.Gly183Arg)	RBSN (G183R)	Single nucleotide variant (missense variant)	KARIMINEJAD-REVERSADE NEURODEVELOPMENTAL SYNDROME	GPathogenic
Select item 2273946	NM_022340.4(RBSN):c.539G>A (p.Arg180His)	RBSN (R180H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3340064	NM_022340.4(RBSN):c.538C>G (p.Arg180Gly)	RBSN (R180G)	Single nucleotide variant (missense variant)	KARIMINEJAD-REVERSADE NEURODEVELOPMENTAL SYNDROME	GPathogenic
Select item 2252549	NM_022340.4(RBSN):c.527G>A (p.Arg176His)	RBSN (R176H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617304	NM_022340.4(RBSN):c.412A>C (p.Asn138His)	RBSN (N138H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152640	NM_022340.4(RBSN):c.353T>G (p.Val118Gly)	RBSN (V118G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3340062	NM_022340.4(RBSN):c.289G>C (p.Gly97Arg)	RBSN (G97R)	Single nucleotide variant (missense variant)	MYELOFIBROSIS, CONGENITAL, WITH ANEMIA, NEUTROPENIA, DEVELOPMENTAL DELAY, AND OCULAR ABNORMALITIES	GPathogenic
Select item 2653593	NM_022340.4(RBSN):c.215_216del (p.Glu72fs)	RBSN (E72fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2306114	NM_022340.4(RBSN):c.100G>C (p.Glu34Gln)	RBSN (E34Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3341587	NM_022340.4(RBSN):c.-152G>A	RBSN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 1708466	GRCh37/hg19 3p25.1-24.2(chr3:13836340-25357427)x3	ANKRD28, BTD +41 more	Copy number gain	See cases	GPathogenic
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1526967	GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)	ANKRD28, ARL8B +112 more	Copy number gain	not specified	GPathogenic
Select item 1340851	GRCh37/hg19 3p25.1-24.3(chr3:15085863-16402392)x3	ANKRD28, BTD +13 more	Copy number gain	not provided	GUncertain significance
Select item 685415	GRCh37/hg19 3p25.1(chr3:15091247-15212820)x3	MRPS25, RBSN	Copy number gain	not provided	GUncertain significance
Select item 562744	GRCh37/hg19 3p26.1-24.3(chr3:5173870-16760262)x3	ANKRD28, ARL8B +84 more	Copy number gain	not provided	GPathogenic
Select item 562726	GRCh37/hg19 3p26.3-24.3(chr3:1897972-19519085)x3	ANKRD28, ARL8B +98 more	Copy number gain	not provided	GPathogenic
Select item 443469	GRCh37/hg19 3p25.1-24.3(chr3:13720222-17808236)x1	ANKRD28, BTD +27 more	Copy number loss	See cases	GLikely pathogenic
Select item 443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	ANKRD28, APRG1 +155 more	Copy number gain	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 441705	GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3	TRIM71, TRNT1 +145 more	Copy number gain	See cases	GPathogenic

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Items: 92