ClinVar for Gene (Select 347252) - ClinVar

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Links from Gene

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063115	GRCh37/hg19 9p13.3-13.1(chr9:35440393-38787480)x1	ALDH1B1, ANKRD18A +44 more	Copy number loss	not specified	GLikely pathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 2685350	GRCh37/hg19 9p13.2-13.1(chr9:37952631-38787480)x1	ALDH1B1, ANKRD18A +2 more	Copy number loss	not provided	GUncertain significance
Select item 2684569	GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	ACER2, ACO1 +188 more	Copy number gain	not provided	GPathogenic
Select item 2659199	NM_001007563.3(IGFBPL1):c.208C>T (p.Leu70=)	IGFBPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659198	NM_001007563.3(IGFBPL1):c.444C>T (p.Asp148=)	IGFBPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2601748	NM_001007563.3(IGFBPL1):c.183C>A (p.Asp61Glu)	IGFBPL1 (D61E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547748	NM_001007563.3(IGFBPL1):c.631A>T (p.Ile211Leu)	IGFBPL1 (I211L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545714	NM_001007563.3(IGFBPL1):c.74G>A (p.Ser25Asn)	IGFBPL1 (S25N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532977	NM_001007563.3(IGFBPL1):c.133G>A (p.Gly45Ser)	IGFBPL1 (G45S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485226	NM_001007563.3(IGFBPL1):c.416A>T (p.His139Leu)	IGFBPL1 (H139L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463719	NM_001007563.3(IGFBPL1):c.830G>A (p.Arg277His)	IGFBPL1 (R277H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405492	NM_001007563.3(IGFBPL1):c.343T>C (p.Cys115Arg)	IGFBPL1 (C115R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396957	NM_001007563.3(IGFBPL1):c.161C>T (p.Ala54Val)	IGFBPL1 (A54V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384326	NM_001007563.3(IGFBPL1):c.682A>G (p.Ile228Val)	IGFBPL1 (I228V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371877	NM_001007563.3(IGFBPL1):c.786T>G (p.Asp262Glu)	IGFBPL1 (D262E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362826	NM_001007563.3(IGFBPL1):c.355G>C (p.Gly119Arg)	IGFBPL1 (G119R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357080	NM_001007563.3(IGFBPL1):c.247G>A (p.Gly83Arg)	IGFBPL1 (G83R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332498	NM_001007563.3(IGFBPL1):c.167G>A (p.Gly56Glu)	IGFBPL1 (G56E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326819	NM_001007563.3(IGFBPL1):c.119C>A (p.Pro40Gln)	IGFBPL1 (P40Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324931	NM_001007563.3(IGFBPL1):c.176C>G (p.Ala59Gly)	IGFBPL1 (A59G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280248	NM_001007563.3(IGFBPL1):c.340G>A (p.Val114Ile)	IGFBPL1 (V114I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261935	NM_001007563.3(IGFBPL1):c.523T>A (p.Ser175Thr)	IGFBPL1 (S175T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242598	NM_001007563.3(IGFBPL1):c.151C>T (p.Pro51Ser)	IGFBPL1 (P51S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241488	NM_001007563.3(IGFBPL1):c.232G>T (p.Gly78Trp)	IGFBPL1 (G78W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219482	NM_001007563.3(IGFBPL1):c.319G>A (p.Val107Met)	IGFBPL1 (V107M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219357	NM_001007563.3(IGFBPL1):c.693C>A (p.Asn231Lys)	IGFBPL1 (N231K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
Select item 1707628	GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3	FOXD4, PLGRKT +199 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ABCA1, ABHD17B +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1703576	GRCh37/hg19 9p24.3-q13(chr9:203861-68342786)	ACER2, ACO1 +204 more	Copy number gain	Bradycardia	GPathogenic
Select item 1703570	GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)	ACER2, ACO1 +204 more	Copy number gain	Tetrasomy 9p	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1527488	GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)	CDKN2B-AS1, ABHD17B +257 more	Copy number gain	not specified	GPathogenic
Select item 1527487	GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)	ACO1, IFNA8 +205 more	Copy number gain	not specified	GPathogenic
Select item 1210153	GRCh37/hg19 9p13.3-13.1(chr9:36088563-39092820)x1	GLIPR2, DCAF10 +22 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 1210152	GRCh37/hg19 9p13.2-13.1(chr9:36442195-39156958)x1	ALDH1B1, PAX5 +19 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 1210151	GRCh37/hg19 9p13.2-13.1(chr9:36426622-38787479)x1	GRHPR, IGFBPL1 +15 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 980338	GRCh37/hg19 9p13.2-13.1(chr9:38300619-38498138)x1	ALDH1B1, IGFBPL1	Copy number loss	not provided	GLikely benign
Select item 815261	GRCh37/hg19 9p13.2-13.1(chr9:36539229-38787480)x3	SLC25A51, POLR1E +15 more	Copy number gain	not provided	GUncertain significance
Select item 815190	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3	JAK2, KANK1 +213 more	Copy number gain	not provided	GPathogenic
Select item 776421	NM_001007563.3(IGFBPL1):c.818_819insA (p.Pro274fs)	IGFBPL1 (P274fs)	Insertion (frameshift variant)	not provided	GBenign
Select item 776420	NM_001007563.3(IGFBPL1):c.824_830del (p.Asp275fs)	IGFBPL1 (D275fs)	Deletion (frameshift variant)	not provided	GBenign
Select item 694460	NC_000009.11:g.12246100_101559378inv	IFNA16, NTRK2 +326 more	Inversion	Recurrent spontaneous abortion +1 more	GLikely pathogenic
Select item 689135	GRCh37/hg19 9p13.3-q13(chr9:34542635-68210033)x3	ALDH1B1, ANKRD18A +74 more	Copy number gain	not provided	GPathogenic
Select item 687476	GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3	ACER2, ACO1 +193 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	ABCA1, ABCA2 +769 more	Copy number gain	not provided	GPathogenic
Select item 685107	GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3	IFNA1, IFNA10 +204 more	Copy number gain	not provided	GPathogenic
Select item 625636	GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958)	ACER2, ACO1 +195 more	Copy number gain	not provided	GPathogenic
Select item 617751	Single allele	ABHD17B, ACO1 +185 more	Complex	Glioma	GLikely pathogenic
Select item 563687	GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3	ACER2, ACO1 +225 more	Copy number gain	not provided	GPathogenic
Select item 563686	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4	ACER2, ACO1 +213 more	Copy number gain	not provided	GPathogenic
Select item 563685	GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4	ACER2, ACO1 +204 more	Copy number gain	not provided	GPathogenic
Select item 563684	GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4	ACER2, ACO1 +204 more	Copy number gain	not provided	GPathogenic
Select item 563683	GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3	ANKRD18B, APTX +194 more	Copy number gain	not provided	GPathogenic
Select item 559575	GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4	ACER2, ACO1 +201 more	Copy number gain	Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	SUSD3, SVEP1 +769 more	Copy number gain	See cases	GPathogenic
Select item 443177	GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3	ACER2, ACO1 +194 more	Copy number gain	See cases	GPathogenic
Select item 442489	GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3	ABHD17B, ACER2 +274 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	PPP1R26, PPP3R2 +771 more	Copy number gain	See cases	GPathogenic
Select item 394346	GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211)	ACER2, ACO1 +197 more	Copy number gain	See cases	GPathogenic
Select item 393860	GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4	ARID3C, ATOSB +215 more	Copy number gain	See cases	GPathogenic
Select item 253667	GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253633	GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253592	GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4	ACO1, ADAMTSL1 +202 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ANGPTL2, ANKRD18A +771 more	Copy number gain	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ACER2, ACO1 +898 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC126860768, LOC126860769 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LCN15, LCN2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155345	GRCh38/hg38 9p13.1(chr9:38381815-38787483)x4	ALDH1B1, ANKRD18A +14 more	Copy number gain	See cases	GUncertain significance
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	LOC130001533, LOC130001534 +1213 more	Copy number gain	See cases	GPathogenic
Select item 154223	GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3	LOC130001706, LOC130001707 +435 more	Copy number gain	See cases	GLikely pathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	DAPK1-IT1, DCAF10 +1366 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153185	GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3	ACO1, ALDH1B1 +503 more	Copy number gain	See cases	GPathogenic
Select item 151755	GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)	LOC130001669, LOC130001670 +690 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001787, LOC130001788 +983 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC124310660, LOC124310661 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	LOC130001685, LOC130001686 +898 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC111413024, LOC111413033 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	FAM242F, FAM27C +979 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	ACER2, ACO1 +1061 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	STOML2, TAF1L +1119 more	Copy number gain	See cases	GPathogenic
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	ACER2, ACO1 +1005 more	Copy number gain	See cases	GPathogenic
Select item 144556	GRCh38/hg38 9p13.3-13.1(chr9:35623500-38815474)x3	ALDH1B1, ANKRD18A +219 more	Copy number gain	See cases	GPathogenic
Select item 144347	GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3	LOC130001670, LOC130001671 +360 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC126860765, LOC126860766 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	KANK1, KCNV2 +893 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	LOC126860590, LOC126860591 +897 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC116216098, LOC116216099 +3785 more	Copy number gain	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ACER2, ACO1 +898 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 93