ClinVar for Gene (Select 7107) - ClinVar

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Links from Gene

Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3282205	NM_003272.4(GPR137B):c.328A>G (p.Ser110Gly)	GPR137B (S110G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282204	NM_003272.4(GPR137B):c.599C>T (p.Thr200Met)	GPR137B (T200M)	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 3101424	NM_003272.4(GPR137B):c.892T>G (p.Leu298Val)	GPR137B (L298V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101423	NM_003272.4(GPR137B):c.717C>G (p.Ile239Met)	GPR137B (I239M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101422	NM_003272.4(GPR137B):c.697G>A (p.Val233Met)	GPR137B (V233M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101421	NM_003272.4(GPR137B):c.619G>A (p.Val207Ile)	GPR137B (V207I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101420	NM_003272.4(GPR137B):c.329G>T (p.Ser110Ile)	GPR137B (S110I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101418	NM_003272.4(GPR137B):c.269C>G (p.Ser90Cys)	GPR137B (S90C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101417	NM_003272.4(GPR137B):c.211C>T (p.Arg71Cys)	GPR137B (R71C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101416	NM_003272.4(GPR137B):c.113C>A (p.Pro38His)	GPR137B, LOC129932866 (P38H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101415	NM_003272.4(GPR137B):c.1058C>T (p.Ala353Val)	GPR137B (A353V)	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 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 2558699	NM_003272.4(GPR137B):c.1051G>A (p.Asp351Asn)	GPR137B (D351N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542646	NM_003272.4(GPR137B):c.748C>T (p.Arg250Trp)	GPR137B (R250W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490562	NM_003272.4(GPR137B):c.1176T>A (p.Asp392Glu)	GPR137B (D392E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473288	NM_003272.4(GPR137B):c.14G>T (p.Arg5Leu)	GPR137B, LOC129932866 (R5L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459539	NM_003272.4(GPR137B):c.949A>C (p.Asn317His)	GPR137B (N317H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457415	NM_003272.4(GPR137B):c.443C>G (p.Ser148Cys)	GPR137B (S148C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457149	NM_003272.4(GPR137B):c.625C>T (p.Leu209Phe)	GPR137B (L209F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456280	NM_003272.4(GPR137B):c.131G>C (p.Gly44Ala)	GPR137B, LOC129932866 (G44A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396821	NM_003272.4(GPR137B):c.922T>G (p.Leu308Val)	GPR137B (L308V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307635	NM_003272.4(GPR137B):c.638T>A (p.Leu213His)	GPR137B (L213H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301971	NM_003272.4(GPR137B):c.40G>A (p.Gly14Ser)	GPR137B, LOC129932866 (G14S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266001	NM_003272.4(GPR137B):c.283C>T (p.Leu95Phe)	GPR137B (L95F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235009	NM_003272.4(GPR137B):c.146A>C (p.Tyr49Ser)	GPR137B, LOC129932866 (Y49S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228487	NM_003272.4(GPR137B):c.65A>G (p.Asp22Gly)	GPR137B, LOC129932866 (D22G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221258	NM_003272.4(GPR137B):c.1126A>G (p.Thr376Ala)	GPR137B (T376A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213702	NM_003272.4(GPR137B):c.481G>A (p.Ala161Thr)	GPR137B (A161T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206493	NM_003272.4(GPR137B):c.385C>T (p.Leu129Phe)	GPR137B (L129F)	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 979944	GRCh37/hg19 1q42.3-43(chr1:235931559-236766584)x3	EDARADD, ERO1B +5 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 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 688001	GRCh37/hg19 1q42.3(chr1:235612057-236430748)x1	B3GALNT2, ERO1B +5 more	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 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: 88