ClinVar for Gene (Select 56605) - ClinVar

Links from Gene

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3276418	NM_019891.4(ERO1B):c.1247C>A (p.Ser416Tyr)	ERO1B (S416Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276417	NM_019891.4(ERO1B):c.44C>G (p.Ala15Gly)	ERO1B, LOC129932875 (A15G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276416	NM_019891.4(ERO1B):c.929A>C (p.Glu310Ala)	ERO1B (E310A)	Single nucleotide variant (missense variant)	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 3090350	NM_019891.4(ERO1B):c.755G>A (p.Gly252Glu)	ERO1B (G252E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090349	NM_019891.4(ERO1B):c.676G>A (p.Glu226Lys)	ERO1B (E226K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090347	NM_019891.4(ERO1B):c.368A>G (p.Asn123Ser)	ERO1B (N123S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090346	NM_019891.4(ERO1B):c.28G>T (p.Ala10Ser)	ERO1B, LOC129932875 (A10S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090345	NM_019891.4(ERO1B):c.267C>G (p.His89Gln)	ERO1B (H89Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090344	NM_019891.4(ERO1B):c.1377T>A (p.Phe459Leu)	ERO1B (F459L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090343	NM_019891.4(ERO1B):c.1010C>T (p.Ala337Val)	ERO1B (A337V)	Single nucleotide variant (missense variant)	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 3063299	GRCh37/hg19 1q42.3-43(chr1:236221501-237380903)x3	ACTN2, EDARADD +8 more	Copy number gain	not specified	GUncertain significance
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 2640103	NM_019891.4(ERO1B):c.189A>C (p.Lys63Asn)	ERO1B (K63N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2609857	NM_019891.4(ERO1B):c.415A>G (p.Ile139Val)	ERO1B (I139V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608334	NM_019891.4(ERO1B):c.1094G>A (p.Gly365Asp)	ERO1B (G365D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601564	NM_019891.4(ERO1B):c.1025T>G (p.Leu342Arg)	ERO1B (L342R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588326	NM_019891.4(ERO1B):c.187A>C (p.Lys63Gln)	ERO1B (K63Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2579286	GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1	ACTN2, ADSS2 +271 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 2557248	NM_019891.4(ERO1B):c.482G>A (p.Arg161Gln)	ERO1B (R161Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2531808	NM_019891.4(ERO1B):c.86G>A (p.Ser29Asn)	ERO1B (S29N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526258	NM_019891.4(ERO1B):c.748A>G (p.Ile250Val)	ERO1B (I250V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524648	NM_019891.4(ERO1B):c.1243T>C (p.Phe415Leu)	ERO1B (F415L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513812	NM_019891.4(ERO1B):c.95A>T (p.Glu32Val)	ERO1B (E32V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496079	NM_019891.4(ERO1B):c.988A>G (p.Thr330Ala)	ERO1B (T330A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479244	NM_019891.4(ERO1B):c.404A>C (p.Lys135Thr)	ERO1B (K135T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456089	NM_019891.4(ERO1B):c.137T>C (p.Ile46Thr)	ERO1B (I46T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394360	NM_019891.4(ERO1B):c.152A>G (p.Asn51Ser)	ERO1B (N51S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380580	NM_019891.4(ERO1B):c.296C>G (p.Pro99Arg)	ERO1B (P99R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364402	NM_019891.4(ERO1B):c.1313A>G (p.Glu438Gly)	ERO1B (E438G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348075	NM_019891.4(ERO1B):c.1232T>A (p.Leu411Gln)	ERO1B (L411Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345580	NM_019891.4(ERO1B):c.973A>G (p.Ile325Val)	ERO1B (I325V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336775	NM_019891.4(ERO1B):c.97G>A (p.Ala33Thr)	ERO1B (A33T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319575	NM_019891.4(ERO1B):c.23C>T (p.Ala8Val)	ERO1B, LOC129932875 (A8V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313188	NM_019891.4(ERO1B):c.857G>A (p.Arg286His)	ERO1B (R286H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292437	NM_019891.4(ERO1B):c.849C>G (p.Phe283Leu)	ERO1B (F283L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280666	NM_019891.4(ERO1B):c.206A>G (p.Tyr69Cys)	ERO1B (Y69C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273560	NM_019891.4(ERO1B):c.1357A>G (p.Ile453Val)	ERO1B (I453V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272388	NM_019891.4(ERO1B):c.1015A>G (p.Thr339Ala)	ERO1B (T339A)	Single nucleotide variant (missense variant)	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 1808335	GRCh37/hg19 1q42.3(chr1:236023942-236388093)x1	ERO1B, GPR137B +2 more	Copy number loss	not provided	GUncertain significance
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 988890	NM_019891.4(ERO1B):c.662C>T (p.Ala221Val)	ERO1B (A221V)	Single nucleotide variant (missense variant)	Developmental cataract	GUncertain significance
Select item 979944	GRCh37/hg19 1q42.3-43(chr1:235931559-236766584)x3	EDARADD, ERO1B +5 more	Copy number gain	not provided	GUncertain significance
Select item 979943	GRCh37/hg19 1q42.3(chr1:236395360-236533247)x1	ERO1B	Copy number loss	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 814182	GRCh37/hg19 1q42.3(chr1:235925185-236510995)x3	ERO1B, GPR137B +2 more	Copy number gain	not provided	GUncertain significance
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 777106	NM_019891.4(ERO1B):c.1396A>G (p.Ser466Gly)	ERO1B (S466G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 688001	GRCh37/hg19 1q42.3(chr1:235612057-236430748)x1	B3GALNT2, ERO1B +5 more	Copy number loss	not provided	GUncertain significance
Select item 687522	GRCh37/hg19 1q42.3(chr1:236383222-236577374)x1	EDARADD, ERO1B	Copy number loss	not provided	GUncertain significance
Select item 685476	GRCh37/hg19 1q42.3-44(chr1:235582580-249224684)x3	ACTN2, ADSS2 +96 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 442300	GRCh37/hg19 1q42.3(chr1:235786484-236540361)x3	ERO1B, GNG4 +3 more	Copy number gain	See cases	GUncertain significance
Select item 441937	GRCh37/hg19 1q42.3-44(chr1:235797384-249224684)x1	ACTN2, ADSS2 +94 more	Copy number loss	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 221989	GRCh37/hg19 1q42.3-43(chr1:236224569-237379105)x3	ACTN2, EDARADD +8 more	Copy number gain	See cases	GUncertain significance
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 155507	GRCh38/hg38 1q42.3-43(chr1:236206560-236941297)x3	ACTN2, EDARADD +29 more	Copy number gain	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 147606	GRCh38/hg38 1q42.3-43(chr1:235387992-237270632)x3	ACTN2, B3GALNT2 +88 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 147484	GRCh38/hg38 1q42.3-43(chr1:236237049-236904883)x3	ACTN2, EDARADD +28 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

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Links from Gene

Items: 100