ClinVar for Gene (Select 23029) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3313278	NM_015014.4(RBM34):c.821G>C (p.Arg274Thr)	RBM34 (R274T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313277	NM_015014.4(RBM34):c.1220C>T (p.Ala407Val)	RBM34 (A407V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313276	NM_015014.4(RBM34):c.1021G>A (p.Val341Ile)	RBM34 (V341I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313275	NM_015014.4(RBM34):c.947T>C (p.Val316Ala)	RBM34 (V316A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3248035	NC_000001.10:g.(?_234338304)_(237995947_?)dup	ACTN2, ARID4B +21 more	Duplication	not provided	GUncertain significance
Select item 3247621	NC_000001.10:g.(?_235275379)_(236899040_?)del	ACTN2, ARID4B +13 more	Deletion	Chédiak-Higashi syndrome	GPathogenic
Select item 3242280	GRCh37/hg19 1q42.2-42.3(chr1:234117880-236536349)x1	ARID4B, B3GALNT2 +14 more	Copy number loss	not provided	GPathogenic
Select item 3152341	NM_015014.4(RBM34):c.899A>G (p.Glu300Gly)	RBM34 (E300G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152340	NM_015014.4(RBM34):c.770C>T (p.Thr257Met)	RBM34 (T257M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152339	NM_015014.4(RBM34):c.764C>T (p.Ala255Val)	RBM34 (A255V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152338	NM_015014.4(RBM34):c.250C>T (p.Arg84Trp)	LOC126806059, RBM34 (R84W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152337	NM_015014.4(RBM34):c.1232A>C (p.Lys411Thr)	RBM34 (K410T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152336	NM_015014.4(RBM34):c.1082G>T (p.Arg361Leu)	RBM34 (R360L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152335	NM_015014.4(RBM34):c.1058T>A (p.Met353Lys)	RBM34 (M352K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152334	NM_015014.4(RBM34):c.1028T>G (p.Leu343Arg)	RBM34 (L342R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063443	GRCh37/hg19 1q42.2-43(chr1:233813555-240578304)x1	ACTN2, ARID4B +24 more	Copy number loss	not specified	GPathogenic
Select item 2685865	GRCh37/hg19 1q42.13-43(chr1:230231959-238032346)x1	ACTN2, AGT +45 more	Copy number loss	not provided	GPathogenic
Select item 2685840	GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3	ABCB10, ACTA1 +137 more	Copy number gain	not provided	GPathogenic
Select item 2622070	NM_015014.4(RBM34):c.9G>T (p.Leu3Phe)	LOC126806059, RBM34 (L3F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621782	NM_015014.4(RBM34):c.517C>G (p.Gln173Glu)	RBM34 (Q173E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621019	NM_015014.4(RBM34):c.937A>C (p.Ile313Leu)	RBM34 (I313L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616499	NM_015014.4(RBM34):c.326A>G (p.Lys109Arg)	LOC126806059, RBM34 (K109R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609115	NM_015014.4(RBM34):c.424A>G (p.Lys142Glu)	RBM34 (K142E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2587971	NM_015014.4(RBM34):c.44T>C (p.Val15Ala)	LOC126806059, RBM34 (V15A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2579289	GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1	ACTN2, AGT +369 more	Copy number loss	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GPathogenic
Select item 2577840	NC_000001.11:g.(233502994_233518999)_(236093155_236105019)del	ARID4B, B3GALNT2 +162 more	Deletion	Immunodeficiency, common variable, 14	GPathogenic
Select item 2568576	NM_015014.4(RBM34):c.380C>T (p.Ala127Val)	RBM34 (A127V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2563756	NM_015014.4(RBM34):c.281T>C (p.Ile94Thr)	LOC126806059, RBM34 (I94T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518150	NM_015014.4(RBM34):c.946G>A (p.Val316Met)	RBM34 (V315M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511238	NM_015014.4(RBM34):c.1229T>G (p.Leu410Arg)	RBM34 (L410R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483720	NM_015014.4(RBM34):c.554G>A (p.Arg185Lys)	RBM34 (R185K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470212	NM_015014.4(RBM34):c.623A>G (p.Tyr208Cys)	RBM34 (Y208C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456009	NM_015014.4(RBM34):c.232A>G (p.Thr78Ala)	LOC126806059, RBM34 (T78A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398327	NM_015014.4(RBM34):c.1265G>A (p.Arg422His)	RBM34 (R422H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372667	NM_015014.4(RBM34):c.674C>T (p.Thr225Met)	RBM34 (T225M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365107	NM_015014.4(RBM34):c.36G>T (p.Lys12Asn)	LOC126806059, RBM34 (K12N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358402	NM_015014.4(RBM34):c.1034T>C (p.Leu345Pro)	RBM34 (L344P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339904	NM_015014.4(RBM34):c.1057A>C (p.Met353Leu)	RBM34 (M352L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330894	NM_015014.4(RBM34):c.1123C>A (p.Pro375Thr)	RBM34 (P374T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329033	NM_015014.4(RBM34):c.286A>G (p.Arg96Gly)	LOC126806059, RBM34 (R96G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301423	NM_015014.4(RBM34):c.1139T>G (p.Val380Gly)	RBM34 (V380G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296110	NM_015014.4(RBM34):c.454G>A (p.Val152Ile)	RBM34 (V152I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233314	NM_015014.4(RBM34):c.364A>G (p.Arg122Gly)	LOC126806059, RBM34 (R122G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215499	NM_015014.4(RBM34):c.198G>C (p.Gln66His)	LOC126806059, RBM34 (Q66H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1810315	GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3	ABCB10, ACBD3 +113 more	Copy number gain	not provided	Gnot provided
Select item 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	ABCB10, ACBD3 +185 more	Copy number gain	not provided	GPathogenic
Select item 1809265	GRCh37/hg19 1q42.13-43(chr1:227992928-236659905)x3	ABCB10, ACTA1 +65 more	Copy number gain	not provided	GLikely pathogenic
Select item 1809015	GRCh37/hg19 1q42.2-43(chr1:232827966-240750334)x1	ACTN2, ARID4B +30 more	Copy number loss	not provided	GUncertain significance
Select item 1809009	GRCh37/hg19 1q42.2-43(chr1:232895447-238787061)x1	ACTN2, ARID4B +27 more	Copy number loss	not provided	GUncertain significance
Select item 1808740	GRCh37/hg19 1q42.2-43(chr1:232732121-243338216)x1	ACTN2, ARID4B +40 more	Copy number loss	not provided	GPathogenic
Select item 1711168	GRCh37/hg19 1q42.2-44(chr1:233012994-249206918)x1	OR2T12, OR2T2 +109 more	Copy number loss	See cases	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1707457	Single allele	LOC129388781, LOC129932784 +123 more	Duplication	not specified	GUncertain significance
Select item 1527626	GRCh37/hg19 1q42.2-43(chr1:232226609-241010904)	ACTN2, ARID4B +32 more	Copy number loss	not specified	GPathogenic
Select item 1180519	GRCh37/hg19 1q42.2-43(chr1:231407943-237289859)x1	SPRTN, TARBP1 +34 more	Copy number loss	not provided	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 979942	GRCh37/hg19 1q42.3(chr1:234953169-235409480)x4	RBM34, ARID4B +2 more	Copy number gain	not provided	GUncertain significance
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 814181	GRCh37/hg19 1q42.2-43(chr1:233843930-237971511)x1	SLC35F3, TARBP1 +21 more	Copy number loss	not provided	GPathogenic
Select item 814175	GRCh37/hg19 1q42.13-43(chr1:228832737-240993877)x3	ERO1B, EXOC8 +59 more	Copy number gain	not provided	GPathogenic
Select item 814163	GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3	CCDC185, NTPCR +127 more	Copy number gain	not provided	GPathogenic
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 625534	GRCh37/hg19 1q42.2-43(chr1:234546246-238716872)	ACTN2, ARID4B +20 more	Copy number loss	not provided	GLikely pathogenic
Select item 625533	GRCh37/hg19 1q42.3-43(chr1:234742890-239475761)	ACTN2, ARID4B +19 more	Copy number loss	not provided	GPathogenic
Select item 565232	GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3	ABCB10, ACTA1 +145 more	Copy number gain	not provided	GPathogenic
Select item 565225	GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3	H2BC26, H3-3A +213 more	Copy number gain	not provided	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 441866	GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3	ABCB10, ACBD3 +184 more	Copy number gain	See cases	GPathogenic
Select item 441651	GRCh37/hg19 1q42.2-43(chr1:234605553-240932205)x1	ACTN2, ARID4B +23 more	Copy number loss	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 393997	GRCh37/hg19 1q42.2-44(chr1:231670870-249213000)x3	GCSAML, GGPS1 +114 more	Copy number gain	See cases	GPathogenic
Select item 253636	GRCh37/hg19 1q42.2-44(chr1:234050864-249213059)x3	ACTN2, ADSS2 +105 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 155546	GRCh38/hg38 1q42.2-42.3(chr1:234147274-235184361)x1	ARID4B, COA6 +98 more	Copy number loss	See cases	GUncertain significance
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC126806053, LOC126806054 +870 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	ABCB10, ACTA1 +656 more	Copy number gain	See cases	GPathogenic
Select item 147069	GRCh38/hg38 1q42.3(chr1:234802578-235914149)x3	ARID4B, B3GALNT2 +75 more	Copy number gain	See cases	GUncertain significance
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LINC02765, LINC02768 +955 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932658, LOC129932659 +950 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	ABCB10, ACBD3 +953 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC440742, LYPD8 +955 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 57387	GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1	ACTN2, AGT +378 more	Copy number loss	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	TARBP1, TBCE +968 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 89