489[HGNC] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
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 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 57510	GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1	ABL2, ACBD6 +347 more	Copy number loss	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
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 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 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 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 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 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 784965	NM_004673.4(ANGPTL1):c.1266C>T (p.Asp422=)	ANGPTL1, RALGPS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 814145	GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1	ABL2, ACBD6 +88 more	Copy number loss	not provided	GPathogenic
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

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Items: 62