ClinVar for Gene (Select 55103) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3312646	NM_152663.5(RALGPS2):c.542A>G (p.Asp181Gly)	RALGPS2 (D181G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312645	NM_152663.5(RALGPS2):c.1168A>C (p.Thr390Pro)	RALGPS2 (T390P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312644	NM_152663.5(RALGPS2):c.221C>T (p.Ser74Leu)	RALGPS2 (S74L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312642	NM_152663.5(RALGPS2):c.92G>A (p.Gly31Asp)	RALGPS2 (G31D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312641	NM_152663.5(RALGPS2):c.1514A>T (p.Glu505Val)	RALGPS2 (E505V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312640	NM_152663.5(RALGPS2):c.1193G>A (p.Gly398Asp)	RALGPS2 (G398D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312639	NM_152663.5(RALGPS2):c.7C>G (p.Leu3Val)	RALGPS2 (L3V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294126	NM_004673.4(ANGPTL1):c.353T>C (p.Leu118Pro)	ANGPTL1, RALGPS2 (L118P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294119	NM_004673.4(ANGPTL1):c.514T>C (p.Tyr172His)	ANGPTL1, RALGPS2 (Y172H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294109	NM_004673.4(ANGPTL1):c.397C>T (p.Leu133Phe)	ANGPTL1, RALGPS2 (L133F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3235812	NM_004673.4(ANGPTL1):c.128A>T (p.Lys43Ile)	ANGPTL1, RALGPS2 (K43I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3235806	NM_004673.4(ANGPTL1):c.128A>G (p.Lys43Arg)	ANGPTL1, RALGPS2 (K43R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3151335	NM_152663.5(RALGPS2):c.878C>T (p.Ser293Phe)	RALGPS2 (S293F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151334	NM_152663.5(RALGPS2):c.422T>C (p.Met141Thr)	RALGPS2 (M141T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151333	NM_152663.5(RALGPS2):c.41C>T (p.Ala14Val)	RALGPS2 (A14V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151332	NM_152663.5(RALGPS2):c.41C>G (p.Ala14Gly)	RALGPS2 (A14G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151331	NM_152663.5(RALGPS2):c.35A>T (p.Asn12Ile)	RALGPS2 (N12I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151330	NM_152663.5(RALGPS2):c.1637C>T (p.Ser546Leu)	RALGPS2 (S546L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3151329	NM_152663.5(RALGPS2):c.1541A>G (p.Asn514Ser)	RALGPS2 (N514S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151328	NM_152663.5(RALGPS2):c.1457C>T (p.Ala486Val)	RALGPS2 (A460V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151327	NM_152663.5(RALGPS2):c.1270G>A (p.Gly424Ser)	RALGPS2 (G424S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3118508	NM_004673.4(ANGPTL1):c.904A>C (p.Asn302His)	ANGPTL1, RALGPS2 (N302H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118500	NM_004673.4(ANGPTL1):c.866C>T (p.Ser289Leu)	ANGPTL1, RALGPS2 (S289L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118490	NM_004673.4(ANGPTL1):c.813C>G (p.Phe271Leu)	ANGPTL1, RALGPS2 (F271L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118481	NM_004673.4(ANGPTL1):c.76T>C (p.Phe26Leu)	ANGPTL1, RALGPS2 (F26L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118479	NM_004673.4(ANGPTL1):c.763C>G (p.Leu255Val)	ANGPTL1, RALGPS2 (L255V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118474	NM_004673.4(ANGPTL1):c.730G>A (p.Gly244Ser)	ANGPTL1, RALGPS2 (G244S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118460	NM_004673.4(ANGPTL1):c.491A>C (p.Glu164Ala)	RALGPS2, ANGPTL1 (E164A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118454	NM_004673.4(ANGPTL1):c.296T>C (p.Ile99Thr)	ANGPTL1, RALGPS2 (I99T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118449	NM_004673.4(ANGPTL1):c.289C>T (p.Arg97Trp)	ANGPTL1, RALGPS2 (R97W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118442	NM_004673.4(ANGPTL1):c.1426G>A (p.Gly476Arg)	ANGPTL1, RALGPS2 (G476R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118424	NM_004673.4(ANGPTL1):c.1224T>A (p.Asp408Glu)	ANGPTL1, RALGPS2 (D408E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118411	NM_004673.4(ANGPTL1):c.1159C>T (p.Arg387Cys)	ANGPTL1, RALGPS2 (R387C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118406	NM_004673.4(ANGPTL1):c.1154G>C (p.Ser385Thr)	ANGPTL1, RALGPS2 (S385T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118404	NM_004673.4(ANGPTL1):c.1013A>G (p.Tyr338Cys)	ANGPTL1, RALGPS2 (Y338C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 3062777	GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	ABL2, ACBD6 +52 more	Copy number gain	not specified	GPathogenic
Select item 2610672	NM_152663.5(RALGPS2):c.155A>G (p.Glu52Gly)	RALGPS2 (E52G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599677	NM_152663.5(RALGPS2):c.40G>T (p.Ala14Ser)	RALGPS2 (A14S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595183	NM_152663.5(RALGPS2):c.550A>G (p.Lys184Glu)	RALGPS2 (K184E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2565383	NM_152663.5(RALGPS2):c.1007A>G (p.His336Arg)	RALGPS2 (H336R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559412	NM_152663.5(RALGPS2):c.212A>T (p.Asp71Val)	RALGPS2 (D71V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542211	NM_004673.4(ANGPTL1):c.84T>G (p.Ile28Met)	ANGPTL1, RALGPS2 (I28M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527560	NM_152663.5(RALGPS2):c.1203T>A (p.Asp401Glu)	RALGPS2 (D401E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527120	NM_152663.5(RALGPS2):c.322A>C (p.Ile108Leu)	RALGPS2 (I108L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521811	NM_152663.5(RALGPS2):c.500A>G (p.Lys167Arg)	RALGPS2 (K167R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521353	NM_152663.5(RALGPS2):c.47C>T (p.Thr16Ile)	RALGPS2 (T16I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511133	NM_152663.5(RALGPS2):c.569T>C (p.Ile190Thr)	RALGPS2 (I190T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493838	NM_004673.4(ANGPTL1):c.1294T>C (p.Cys432Arg)	ANGPTL1, RALGPS2 (C432R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490838	NM_004673.4(ANGPTL1):c.907G>A (p.Gly303Arg)	ANGPTL1, RALGPS2 (G303R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472330	NM_004673.4(ANGPTL1):c.1193G>A (p.Arg398His)	ANGPTL1, RALGPS2 (R398H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470736	NM_152663.5(RALGPS2):c.920C>T (p.Ala307Val)	RALGPS2 (A307V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462547	NM_152663.5(RALGPS2):c.1459G>A (p.Ala487Thr)	RALGPS2 (A461T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407546	NM_152663.5(RALGPS2):c.1301A>G (p.Tyr434Cys)	RALGPS2 (Y434C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2404539	NM_004673.4(ANGPTL1):c.976G>C (p.Asp326His)	ANGPTL1, RALGPS2 (D326H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402444	NM_004673.4(ANGPTL1):c.966G>C (p.Gln322His)	ANGPTL1, RALGPS2 (Q322H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385302	NM_004673.4(ANGPTL1):c.641C>A (p.Pro214Gln)	ANGPTL1, RALGPS2 (P214Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379605	NM_152663.5(RALGPS2):c.1147C>G (p.Arg383Gly)	RALGPS2 (R383G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373598	NM_004673.4(ANGPTL1):c.11T>C (p.Phe4Ser)	ANGPTL1, RALGPS2 (F4S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361803	NM_152663.5(RALGPS2):c.551A>G (p.Lys184Arg)	RALGPS2 (K184R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350981	NM_004673.4(ANGPTL1):c.479A>G (p.Asn160Ser)	ANGPTL1, RALGPS2 (N160S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326576	NM_152663.5(RALGPS2):c.410T>C (p.Leu137Pro)	RALGPS2 (L137P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316968	NM_152663.5(RALGPS2):c.1312A>G (p.Met438Val)	RALGPS2 (M438V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2315613	NM_004673.4(ANGPTL1):c.1309A>G (p.Lys437Glu)	ANGPTL1, RALGPS2 (K437E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314859	NM_004673.4(ANGPTL1):c.1457T>C (p.Met486Thr)	ANGPTL1, RALGPS2 (M486T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309238	NM_004673.4(ANGPTL1):c.1261C>G (p.Leu421Val)	ANGPTL1, RALGPS2 (L421V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306097	NM_152663.5(RALGPS2):c.164G>A (p.Gly55Asp)	RALGPS2 (G55D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303578	NM_152663.5(RALGPS2):c.130G>A (p.Asp44Asn)	RALGPS2 (D44N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301999	NM_004673.4(ANGPTL1):c.1406T>G (p.Phe469Cys)	ANGPTL1, RALGPS2 (F469C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291812	NM_152663.5(RALGPS2):c.1138G>A (p.Ala380Thr)	RALGPS2 (A380T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288930	NM_004673.4(ANGPTL1):c.1210G>A (p.Gly404Arg)	ANGPTL1, RALGPS2 (G404R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270737	NM_004673.4(ANGPTL1):c.1469T>A (p.Ile490Asn)	ANGPTL1, RALGPS2 (I490N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269509	NM_152663.5(RALGPS2):c.959G>A (p.Gly320Glu)	RALGPS2 (G320E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267669	NM_004673.4(ANGPTL1):c.866C>G (p.Ser289Trp)	ANGPTL1, RALGPS2 (S289W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261054	NM_004673.4(ANGPTL1):c.607A>G (p.Ile203Val)	ANGPTL1, RALGPS2 (I203V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244509	NM_004673.4(ANGPTL1):c.794A>G (p.Lys265Arg)	ANGPTL1, RALGPS2 (K265R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209287	NM_152663.5(RALGPS2):c.1603C>G (p.Leu535Val)	RALGPS2 (L509V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208785	NM_004673.4(ANGPTL1):c.839G>A (p.Cys280Tyr)	ANGPTL1, RALGPS2 (C280Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205904	NM_152663.5(RALGPS2):c.1106A>T (p.His369Leu)	RALGPS2 (H369L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1527404	GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)	BRINP2, BRINP3 +101 more	Copy number loss	not specified	GPathogenic
Select item 1527381	GRCh37/hg19 1q24.2-25.3(chr1:169873155-181823980)	METTL13, MIR199A2 +68 more	Copy number loss	not specified	GPathogenic
Select item 1341276	GRCh37/hg19 1q25.2-31.1(chr1:178522021-190322133)x1	ABL2, ACBD6 +56 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 979311	GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	ABL2, ACBD6 +52 more	Copy number gain	not provided	GPathogenic
Select item 979310	GRCh37/hg19 1q25.1-25.2(chr1:174410914-178743636)x1	CACYBP, TEX35 +13 more	Copy number loss	not provided	GUncertain significance
Select item 814145	GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1	ABL2, ACBD6 +88 more	Copy number loss	not provided	GPathogenic
Select item 784965	NM_004673.4(ANGPTL1):c.1266C>T (p.Asp422=)	ANGPTL1, RALGPS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 625613	GRCh37/hg19 1q24.2-25.3(chr1:169423492-180367623)	ABL2, ACBD6 +70 more	Copy number gain	not provided	GPathogenic
Select item 599187	NC_000001.10:g.172652343_183538289del10885947	ANKRD45, ASTN1 +61 more	Deletion	1q24q25 microdeletion syndrome	GPathogenic
Select item 443359	GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3	ABL2, ACBD6 +71 more	Copy number gain	See cases	GLikely pathogenic
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 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	SUCO, TADA1 +147 more	Copy number loss	See cases	GPathogenic
Select item 253471	GRCh37/hg19 1q24.3-25.3(chr1:172742952-181814496)x1	ABL2, ACBD6 +46 more	Copy number loss	See cases	GPathogenic
Select item 226132	GRCh37/hg19 1q25.2-25.3(chr1:178806664-181082264)	TOR3A, TOR1AIP1 +19 more	Copy number loss	Abnormal esophagus morphology	GLikely benign
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932082, LOC129932083 +561 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	See cases	GPathogenic
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	MIR488, MR1 +456 more	Copy number loss	See cases	GPathogenic

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