28965[HGNC] - ClinVar

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Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 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 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	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
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LINC02765, LINC02768 +955 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 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	ABCB10, ACBD3 +953 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 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932658, LOC129932659 +950 more	Copy number gain	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC126806053, LOC126806054 +870 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 57387	GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1	ACTN2, AGT +378 more	Copy number loss	See cases	GPathogenic
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 1707457	Single allele	LOC129388781, LOC129932784 +123 more	Duplication	not specified	GUncertain significance
Select item 2577840	NC_000001.11:g.(233502994_233518999)_(236093155_236105019)del	ARID4B, B3GALNT2 +162 more	Deletion	Immunodeficiency, common variable, 14	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 147069	GRCh38/hg38 1q42.3(chr1:234802578-235914149)x3	ARID4B, B3GALNT2 +75 more	Copy number gain	See cases	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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

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Items: 89