25724[HGNC] - ClinVar

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Items: 80

	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 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
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 147449	GRCh38/hg38 1q41-42.13(chr1:223347693-228556332)x1	ACBD3, ACBD3-AS1 +287 more	Copy number loss	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 155156	GRCh38/hg38 1q42.12-42.13(chr1:225382172-230418801)x1	ABCB10, ACBD3 +309 more	Copy number loss	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 146517	GRCh38/hg38 1q42.12-42.2(chr1:226185124-232872488)x1	ABCB10, ACBD3 +313 more	Copy number loss	See cases	GPathogenic
Select item 147492	GRCh38/hg38 1q42.13(chr1:227127485-227859407)x1	CDC42BPA, JMJD4 +27 more	Copy number loss	See cases	GUncertain significance
Select item 145605	GRCh38/hg38 1q42.13(chr1:227613596-229249335)x4	ARF1, BTNL10 +100 more	Copy number gain	See cases	GLikely pathogenic
Select item 3287203	NM_023007.3(JMJD4):c.1235A>T (p.Asp412Val)	JMJD4, SNAP47 (D396V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112336	NM_023007.3(JMJD4):c.1218G>T (p.Gln406His)	JMJD4, SNAP47 (Q406H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353722	NM_023007.3(JMJD4):c.1211T>A (p.Leu404Gln)	JMJD4, SNAP47 (L388Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319142	NM_023007.3(JMJD4):c.1183G>A (p.Ala395Thr)	JMJD4, SNAP47 (A395T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112335	NM_023007.3(JMJD4):c.1159G>A (p.Asp387Asn)	JMJD4, SNAP47 (D387N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371408	NM_023007.3(JMJD4):c.1151C>T (p.Ala384Val)	JMJD4, SNAP47 (A368V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235589	NM_023007.3(JMJD4):c.1147G>A (p.Val383Ile)	JMJD4, SNAP47 (V383I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285235	NM_023007.3(JMJD4):c.1132G>A (p.Val378Met)	JMJD4, SNAP47 (V362M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623878	NM_023007.3(JMJD4):c.1130A>G (p.Glu377Gly)	JMJD4, SNAP47 (E361G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112334	NM_023007.3(JMJD4):c.1121G>A (p.Arg374His)	JMJD4, SNAP47 (R358H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287200	NM_023007.3(JMJD4):c.1034C>T (p.Ala345Val)	SNAP47, JMJD4 (A329V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282852	NM_023007.3(JMJD4):c.1021C>T (p.Leu341Phe)	JMJD4, SNAP47 (L325F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278165	NM_023007.3(JMJD4):c.986G>C (p.Cys329Ser)	JMJD4, SNAP47 (C313S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284747	NM_023007.3(JMJD4):c.947C>A (p.Pro316His)	JMJD4, SNAP47 (P316H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399805	NM_023007.3(JMJD4):c.883C>T (p.Arg295Cys)	JMJD4, SNAP47 (R295C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112345	NM_023007.3(JMJD4):c.823G>T (p.Asp275Tyr)	JMJD4, SNAP47 (D275Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287201	NM_023007.3(JMJD4):c.749C>T (p.Pro250Leu)	JMJD4, SNAP47 (P250L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112344	NM_023007.3(JMJD4):c.728G>A (p.Arg243Gln)	JMJD4, SNAP47 (R243Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 778255	NM_023007.3(JMJD4):c.684C>T (p.Tyr228=)	JMJD4, SNAP47	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2477581	NM_023007.3(JMJD4):c.675C>A (p.Asn225Lys)	JMJD4, SNAP47 (N225K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112343	NM_023007.3(JMJD4):c.671G>A (p.Gly224Asp)	JMJD4, SNAP47 (G224D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287202	NM_023007.3(JMJD4):c.635C>T (p.Pro212Leu)	JMJD4, SNAP47 (P212L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368698	NM_023007.3(JMJD4):c.541C>A (p.Pro181Thr)	JMJD4, SNAP47 (P181T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283686	NM_023007.3(JMJD4):c.536C>T (p.Ala179Val)	JMJD4, SNAP47 (A179V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3112342	NM_023007.3(JMJD4):c.535G>T (p.Ala179Ser)	JMJD4, SNAP47 (A179S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320914	NM_023007.3(JMJD4):c.479A>G (p.Asp160Gly)	JMJD4, SNAP47 (D160G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112341	NM_023007.3(JMJD4):c.437C>T (p.Pro146Leu)	JMJD4, SNAP47 (P146L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2230003	NM_023007.3(JMJD4):c.386C>T (p.Ser129Phe)	JMJD4, SNAP47 (S129F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112340	NM_023007.3(JMJD4):c.361G>A (p.Glu121Lys)	JMJD4, SNAP47 (E121K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2562763	NM_023007.3(JMJD4):c.332C>T (p.Thr111Ile)	JMJD4, SNAP47 (T111I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358691	NM_023007.3(JMJD4):c.328A>T (p.Met110Leu)	JMJD4, SNAP47 (M110L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512484	NM_023007.3(JMJD4):c.205C>T (p.Arg69Trp)	JMJD4, SNAP47 (R69W)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2211664	NM_023007.3(JMJD4):c.136C>T (p.Arg46Trp)	JMJD4, SNAP47 (R46W)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3112339	NM_023007.3(JMJD4):c.119C>T (p.Ser40Phe)	JMJD4, SNAP47 (S40F)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2384348	NM_023007.3(JMJD4):c.76G>T (p.Ala26Ser)	JMJD4, SNAP47 (A26S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3112338	NM_023007.3(JMJD4):c.25G>A (p.Ala9Thr)	JMJD4, SNAP47 (A9T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3112337	NM_023007.3(JMJD4):c.20C>G (p.Ala7Gly)	JMJD4, SNAP47 (A7G)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2215368	NM_023007.3(JMJD4):c.16C>T (p.Arg6Cys)	JMJD4, SNAP47 (R6C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2540971	NM_023007.3(JMJD4):c.-8T>G	JMJD4, SNAP47	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2406752	NM_023007.3(JMJD4):c.-11T>C	JMJD4, SNAP47	Single nucleotide variant (5 prime UTR 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 1808325	GRCh37/hg19 1q42.13(chr1:227696110-227993585)x4	JMJD4, SNAP47 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1527592	GRCh37/hg19 1q42.12-42.2(chr1:226131690-231908227)	ABCB10, ACBD3 +55 more	Copy number loss	not specified	GLikely pathogenic
Select item 1328448	GRCh37/hg19 1q42.13(chr1:227782268-229506509)x1	ARF1, BTNL10 +22 more	Copy number loss	not provided	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	ANKRD45, BRINP3 +956 more	Duplication	Parathyroid carcinoma +2 more	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 814168	GRCh37/hg19 1q41-42.2(chr1:223653722-234591807)x1	FBXO28, ACBD3 +83 more	Copy number loss	not provided	GPathogenic
Select item 814166	GRCh37/hg19 1q41-42.13(chr1:222641389-228137574)x1	PSEN2, FBXO28 +42 more	Copy number loss	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 686432	GRCh37/hg19 1q42.13(chr1:227772973-228326173)x3	ARF1, C1orf35 +7 more	Copy number gain	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 565231	GRCh37/hg19 1q42.13(chr1:227696109-229152386)x3	ARF1, GJC2 +19 more	Copy number gain	not provided	GLikely pathogenic
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 442184	GRCh37/hg19 1q42.13(chr1:227774916-228335196)x3	ARF1, C1orf35 +8 more	Copy number gain	See cases	GUncertain significance
Select item 441866	GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3	ABCB10, ACBD3 +184 more	Copy number gain	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 253906	GRCh37/hg19 1q42.12-42.13(chr1:226871745-229906954)x1	GJC2, TRIM17 +31 more	Copy number loss	See cases	GUncertain significance
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

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Items: 80