10078[HGNC] - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 144143	GRCh38/hg38 1q32.1(chr1:200144603-203112078)x1	LOC120893174, LOC122149340 +166 more	Copy number loss	See cases	GPathogenic
Select item 57818	GRCh38/hg38 1q32.1(chr1:201226425-202014204)x3	CSRP1, CSRP1-AS1 +49 more	Copy number gain	See cases	GUncertain significance
Select item 2253386	NM_020216.4(RNPEP):c.5C>T (p.Ala2Val)	LOC129932234, RNPEP (A2V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3155540	NM_020216.4(RNPEP):c.41G>A (p.Arg14Gln)	LOC129932234, RNPEP (R14Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2609465	NM_020216.4(RNPEP):c.71A>T (p.Asp24Val)	LOC129932234, RNPEP (D24V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3155529	NM_020216.4(RNPEP):c.103G>A (p.Glu35Lys)	LOC129932234, RNPEP (E35K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2486248	NM_020216.4(RNPEP):c.145C>T (p.Pro49Ser)	LOC129932234, RNPEP (P49S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3155533	NM_020216.4(RNPEP):c.152G>A (p.Gly51Glu)	LOC129932234, RNPEP (G51E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2274753	NM_020216.4(RNPEP):c.181G>T (p.Gly61Cys)	LOC129932234, RNPEP (G61C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2390057	NM_020216.4(RNPEP):c.187G>A (p.Ala63Thr)	LOC129932234, RNPEP (A63T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3155539	NM_020216.4(RNPEP):c.278T>C (p.Leu93Pro)	LOC129932234, RNPEP (L93P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2343204	NM_020216.4(RNPEP):c.290G>T (p.Arg97Leu)	LOC129932234, RNPEP (R97L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2358371	NM_020216.4(RNPEP):c.374C>T (p.Ser125Phe)	LOC129932234, RNPEP (S125F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2211068	NM_020216.4(RNPEP):c.397G>T (p.Ala133Ser)	LOC129932234, RNPEP (A133S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3155541	NM_020216.4(RNPEP):c.434G>A (p.Gly145Glu)	LOC129932234, RNPEP (G145E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2251596	NM_020216.4(RNPEP):c.466G>A (p.Glu156Lys)	RNPEP (E156K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155543	NM_020216.4(RNPEP):c.526C>T (p.Arg176Trp)	RNPEP (R176W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 767743	NM_020216.4(RNPEP):c.552G>A (p.Thr184=)	RNPEP	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2509712	NM_020216.4(RNPEP):c.559G>A (p.Val187Ile)	RNPEP (V187I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531644	NM_020216.4(RNPEP):c.584T>C (p.Ile195Thr)	RNPEP (I64T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314963	NM_020216.4(RNPEP):c.654C>G (p.Phe218Leu)	RNPEP (F218L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155544	NM_020216.4(RNPEP):c.773C>T (p.Ala258Val)	RNPEP (A127V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608933	NM_020216.4(RNPEP):c.793G>A (p.Gly265Arg)	RNPEP (G265R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509147	NM_020216.4(RNPEP):c.799A>G (p.Ile267Val)	RNPEP (I136V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291009	NM_020216.4(RNPEP):c.829C>T (p.Leu277Phe)	RNPEP (L146F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347871	NM_020216.4(RNPEP):c.830T>C (p.Leu277Pro)	RNPEP (L277P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256521	NM_020216.4(RNPEP):c.896G>A (p.Gly299Glu)	RNPEP (G168E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155545	NM_020216.4(RNPEP):c.922G>A (p.Val308Ile)	RNPEP (V177I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622160	NM_020216.4(RNPEP):c.929C>T (p.Pro310Leu)	RNPEP (P20L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712095	NM_020216.4(RNPEP):c.949C>T (p.Arg317Cys)	RNPEP (R186C +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2215979	NM_020216.4(RNPEP):c.952T>A (p.Ser318Thr)	RNPEP (S187T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155546	NM_020216.4(RNPEP):c.974A>G (p.His325Arg)	RNPEP (H35R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155527	NM_020216.4(RNPEP):c.1015G>A (p.Ala339Thr)	RNPEP (A339T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155528	NM_020216.4(RNPEP):c.1019A>G (p.Asn340Ser)	RNPEP (N209S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239123	NM_020216.4(RNPEP):c.1029A>C (p.Glu343Asp)	RNPEP (E212D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206480	NM_020216.4(RNPEP):c.1040A>G (p.Asn347Ser)	RNPEP (N216S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513173	NM_020216.4(RNPEP):c.1060G>A (p.Ala354Thr)	RNPEP (A64T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327477	NM_020216.4(RNPEP):c.1093G>A (p.Ala365Thr)	RNPEP (A365T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285594	NM_020216.4(RNPEP):c.1102A>T (p.Thr368Ser)	RNPEP (T78S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155530	NM_020216.4(RNPEP):c.1121C>T (p.Thr374Met)	RNPEP (T243M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348303	NM_020216.4(RNPEP):c.1127G>A (p.Arg376Gln)	RNPEP (R376Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352073	NM_020216.4(RNPEP):c.1139G>A (p.Arg380His)	RNPEP (R380H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300049	NM_020216.4(RNPEP):c.1147A>G (p.Met383Val)	RNPEP (M252V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155531	NM_020216.4(RNPEP):c.1186C>G (p.Arg396Gly)	RNPEP (R106G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547885	NM_020216.4(RNPEP):c.1205G>A (p.Gly402Asp)	ELF3-AS1, RNPEP (G112D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399438	NM_020216.4(RNPEP):c.1207G>A (p.Val403Ile)	ELF3-AS1, RNPEP (V113I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155532	NM_020216.4(RNPEP):c.1261G>A (p.Val421Ile)	ELF3-AS1, RNPEP (V421I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476062	NM_020216.4(RNPEP):c.1268A>T (p.Tyr423Phe)	ELF3-AS1, RNPEP (Y133F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354553	NM_020216.4(RNPEP):c.1297C>G (p.Gln433Glu)	ELF3-AS1, RNPEP (Q302E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284202	NM_020216.4(RNPEP):c.1358A>C (p.Asp453Ala)	ELF3-AS1, RNPEP (D163A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358515	NM_020216.4(RNPEP):c.1510C>G (p.Pro504Ala)	ELF3-AS1, RNPEP (P373A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155534	NM_020216.4(RNPEP):c.1541C>T (p.Ala514Val)	ELF3-AS1, RNPEP (A383V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155535	NM_020216.4(RNPEP):c.1557G>A (p.Met519Ile)	ELF3-AS1, RNPEP (M519I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367172	NM_020216.4(RNPEP):c.1565T>C (p.Ile522Thr)	ELF3-AS1, RNPEP (I232T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155536	NM_020216.4(RNPEP):c.1673A>G (p.Asp558Gly)	ELF3-AS1, RNPEP (D558G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382416	NM_020216.4(RNPEP):c.1715G>A (p.Arg572Gln)	ELF3-AS1, RNPEP (R441Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314965	NM_020216.4(RNPEP):c.1747G>A (p.Asp583Asn)	ELF3-AS1, RNPEP (D583N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342167	NM_020216.4(RNPEP):c.1841G>T (p.Gly614Val)	ELF3-AS1, RNPEP (G614V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276901	NM_020216.4(RNPEP):c.1844G>A (p.Ser615Asn)	ELF3-AS1, RNPEP (S325N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155538	NM_020216.4(RNPEP):c.1933G>A (p.Val645Met)	ELF3-AS1, RNPEP (V514M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	ADIPOR1, ADORA1 +185 more	Deletion	not provided	GPathogenic
Select item 3062955	GRCh37/hg19 1q32.1(chr1:199373229-204335027)x3	ADIPOR1, ADORA1 +58 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062655	GRCh37/hg19 1q31.3-32.1(chr1:197216705-203683110)x1	ADIPOR1, ADORA1 +57 more	Copy number loss	not specified	GLikely pathogenic
Select item 2425293	NC_000001.10:g.(?_200522516)_(206945780_?)dup	EIF2D, ELF3 +90 more	Duplication	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	ADIPOR1, ADORA1 +110 more	Duplication	not provided	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	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 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	NUCKS1, NUDT17 +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CD34, MDM4 +145 more	Copy number gain	not provided	Gnot provided
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 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 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
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: 75