ClinVar for Gene (Select 5444) - ClinVar

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Links from Gene

Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245893	NC_000007.13:g.(?_94024344)_(100860555_?)del	ACHE, ACTL6B +106 more	Deletion	not provided	GPathogenic
Select item 3216757	NM_000446.7(PON1):c.728A>C (p.His243Pro)	PON1 (H243P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216756	NM_000446.7(PON1):c.553T>A (p.Tyr185Asn)	PON1 (Y185N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216755	NM_000446.7(PON1):c.230T>C (p.Phe77Ser)	PON1 (F77S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058100	NM_000446.7(PON1):c.609G>A (p.Ser203=)	PON1	Single nucleotide variant (synonymous variant)	PON1-related disorder	GLikely benign
Select item 3033462	NM_000446.7(PON1):c.261G>A (p.Leu87=)	PON1	Single nucleotide variant (synonymous variant)	PON1-related disorder	GLikely benign
Select item 2685252	GRCh37/hg19 7q21.3(chr7:94813388-96264152)x1	ASB4, C7orf76 +7 more	Copy number loss	not provided	GPathogenic
Select item 2657689	NM_000446.7(PON1):c.55A>G (p.Asn19Asp)	PON1 (N19D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2657688	NM_000446.7(PON1):c.380T>G (p.Met127Arg)	PON1 (M127R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2615526	NM_000446.7(PON1):c.339C>A (p.Asn113Lys)	PON1 (N113K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343338	NM_000446.7(PON1):c.826G>A (p.Glu276Lys)	PON1 (E276K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264451	NM_000446.7(PON1):c.52A>G (p.Arg18Gly)	PON1 (R18G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259340	NM_000446.7(PON1):c.797C>A (p.Thr266Asn)	PON1 (T266N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246951	NM_000446.7(PON1):c.713C>A (p.Ala238Asp)	PON1 (A238D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808653	GRCh37/hg19 7q21.2-22.1(chr7:92721627-98311537)x1	ASB4, ASNS +34 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1678416	NM_000446.7(PON1):c.866T>A (p.Met289Lys)	PON1 (M289K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1527378	GRCh37/hg19 7q21.3(chr7:94309218-95455621)	ASB4, DYNC1I1 +5 more	Copy number gain	not specified	GUncertain significance
Select item 1288755	NM_000446.7(PON1):c.75-94C>T	PON1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288732	NM_000446.7(PON1):c.498-174_498-173insTT	PON1	Insertion (intron variant)	not provided	GBenign
Select item 1285795	NM_000446.7(PON1):c.909+267dup	PON1	Duplication (intron variant)	not provided	GBenign
Select item 1284201	NM_000446.7(PON1):c.75-264G>A	PON1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283941	NM_000446.7(PON1):c.75-304C>T	PON1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283625	NM_000446.7(PON1):c.910-146GT[2]	PON1	Microsatellite (intron variant)	not provided	GBenign
Select item 1279139	NM_000446.7(PON1):c.498-300AC[19]	PON1	Microsatellite (intron variant)	not provided	GBenign
Select item 1273749	NM_000446.7(PON1):c.498-300AC[15]	PON1	Microsatellite (intron variant)	not provided	GBenign
Select item 1270543	NC_000007.14:g.95324601G>C	LOC129998829, PON1	Single nucleotide variant	not provided	GBenign
Select item 1269793	NM_000446.7(PON1):c.145+237del	PON1	Deletion (intron variant)	not provided	GBenign
Select item 1268484	NC_000007.14:g.95324637T>C	LOC129998829, PON1	Single nucleotide variant	not provided	GBenign
Select item 1267129	NM_000446.7(PON1):c.909+83_909+91del	PON1	Deletion (intron variant)	not provided	GBenign
Select item 1260730	NM_000446.7(PON1):c.699-227T>C	PON1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260271	NM_000446.7(PON1):c.371-149C>A	PON1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259135	NM_000446.7(PON1):c.498-300AC[14]	PON1	Microsatellite (intron variant)	not provided	GBenign
Select item 1251798	NM_000446.7(PON1):c.478A>G (p.Arg160Gly)	PON1 (R160G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1247214	NM_000446.7(PON1):c.781-309dup	PON1	Duplication (intron variant)	not provided	GBenign
Select item 1243112	NM_000446.7(PON1):c.498-101C>T	PON1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242106	NM_000446.7(PON1):c.202-121G>A	PON1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241891	NM_000446.7(PON1):c.498-300AC[16]	PON1	Microsatellite (intron variant)	not provided	GBenign
Select item 1240940	NM_000446.7(PON1):c.201+302G>A	PON1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240752	NM_000446.7(PON1):c.909+267_909+268dup	PON1	Duplication (intron variant)	not provided	GBenign
Select item 1239381	NM_000446.7(PON1):c.497+176C>T	PON1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239123	NM_000446.7(PON1):c.497+284del	PON1	Deletion (intron variant)	not provided	GBenign
Select item 1237354	NM_000446.7(PON1):c.498-300AC[17]	PON1	Microsatellite (intron variant)	not provided	GBenign
Select item 1233629	NM_000446.7(PON1):c.909+246A>G	PON1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230450	NM_000446.7(PON1):c.201+174C>T	PON1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228238	NM_000446.7(PON1):c.909+130G>A	PON1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225160	NM_000446.7(PON1):c.146-154C>A	PON1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1049427	NM_000446.7(PON1):c.376G>A (p.Ala126Thr)	PON1 (A126T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1047880	GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327)	ATP5MF-PTCD1, AZGP1 +127 more	Copy number gain	Isolated Pierre-Robin syndrome +1 more	GPathogenic
Select item 976777	GRCh37/hg19 7q21.3(chr7:93516132-95668733)	ASB4, BET1 +13 more	Copy number loss	Myoclonic dystonia 11	GPathogenic
Select item 873305	NM_000446.7(PON1):c.707A>G (p.Tyr236Cys)	PON1 (Y236C)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 747262	NM_000446.7(PON1):c.780+8G>A	PON1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 745684	NM_000446.7(PON1):c.210G>A (p.Lys70=)	PON1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 715878	NM_000446.7(PON1):c.603G>A (p.Ala201=)	PON1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 563412	GRCh37/hg19 7q21.3(chr7:93285237-96280817)x1	C7orf76, CASD1 +15 more	Copy number loss	not provided	GPathogenic
Select item 545583	GRCh37/hg19 7q21.2-22.1(chr7:92445452-99686985)x1	CYP3A4, TAC1 +65 more	Copy number loss	Split hand-foot malformation 1	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic
Select item 153321	GRCh38/hg38 7q21.2-21.3(chr7:92759144-97568646)x1	LOC110121296, LOC111365161 +110 more	Copy number loss	See cases	GPathogenic
Select item 146112	GRCh38/hg38 7q21.3(chr7:95127070-97873487)x1	ASB4, ASNS +61 more	Copy number loss	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 120090	NM_000446.7(PON1):c.325G>T (p.Val109Leu)	PON1 (V109L)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 13737	NM_000446.6(PON1):c.-108C>T	LOC129998829, PON1	Single nucleotide variant	not provided	GBenign
Select item 13736	NM_000446.7(PON1):c.163T>A (p.Leu55Met)	PON1 (L55M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 13735	NM_000446.7(PON1):c.575A>G (p.Gln192Arg)	PON1 (Q192R)	Single nucleotide variant (missense variant)	not provided	GBenign

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Links from Gene

Items: 69