PON2[gene] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	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 2581228	NM_000305.3(PON2):c.*4G>A	PON2	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 7084	NM_000305.3(PON2):c.932C>G (p.Ser311Cys)	PON2 (S311C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1237156	NM_000305.3(PON2):c.907-21T>A	PON2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1301320	NM_000305.3(PON2):c.900G>A (p.Ser300=)	PON2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 495801	NM_000305.3(PON2):c.885G>A (p.Pro295=)	PON2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1050181	NM_000305.3(PON2):c.884C>T (p.Pro295Leu)	PON2 (P283L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2581255	NM_000305.3(PON2):c.873C>T (p.Phe291=)	PON2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2472980	NM_000305.3(PON2):c.832G>A (p.Asp278Asn)	PON2 (D278N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1231210	NM_000305.3(PON2):c.778-23T>A	PON2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273160	NM_000305.3(PON2):c.777+166T>A	PON2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2533484	NM_000305.3(PON2):c.725A>G (p.His242Arg)	PON2 (H242R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 747263	NM_000305.3(PON2):c.708T>G (p.Val236=)	PON2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 2682268	NM_000305.3(PON2):c.698A>G (p.Tyr233Cys)	PON2 (Y221C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 917705	NM_000305.3(PON2):c.695+14T>C	PON2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2506177	NM_000305.3(PON2):c.695+7C>T	PON2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 933154	NM_000305.3(PON2):c.677A>G (p.Asn226Ser)	PON2 (N214S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2581502	NM_000305.3(PON2):c.660T>C (p.Asp220=)	PON2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 495800	NM_000305.3(PON2):c.610GTT[1] (p.Val205del)	PON2 (V205del +1 more)	Microsatellite (inframe_deletion)	not specified	GLikely benign
Select item 2270477	NM_000305.3(PON2):c.570A>C (p.Leu190Phe)	PON2 (L190F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787052	NM_000305.3(PON2):c.514G>C (p.Val172Leu)	PON2 (V160L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1259739	NM_000305.3(PON2):c.495-32G>A	PON2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 723613	NM_000305.3(PON2):c.471A>G (p.Thr157=)	PON2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3039135	NM_000305.3(PON2):c.463C>T (p.Leu155=)	PON2	Single nucleotide variant (synonymous variant)	PON2-related disorder	GLikely benign
Select item 714350	NM_000305.3(PON2):c.456G>A (p.Leu152=)	PON2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 7085	NM_000305.3(PON2):c.443C>G (p.Ala148Gly)	PON2 (A148G +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 795896	NM_000305.3(PON2):c.375A>G (p.Thr125=)	PON2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2258377	NM_000305.3(PON2):c.370G>A (p.Asp124Asn)	PON2 (D124N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1241694	NM_000305.3(PON2):c.368-180G>A	PON2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276288	NM_000305.3(PON2):c.367+82C>A	PON2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2691420	NM_000305.3(PON2):c.359T>G (p.Ile120Arg)	PON2 (I120R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 722381	NM_000305.3(PON2):c.358A>G (p.Ile120Val)	PON2 (I120V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2235026	NM_000305.3(PON2):c.344G>A (p.Gly115Asp)	PON2 (G115D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483315	NM_000305.3(PON2):c.311G>T (p.Arg104Leu)	PON2 (R104L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2577266	NM_000305.3(PON2):c.310C>T (p.Arg104Cys)	PON2 (R104C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 929133	NM_000305.3(PON2):c.293G>A (p.Arg98Gln)	PON2 (R98Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1321360	NM_000305.3(PON2):c.287G>C (p.Arg96Thr)	PON2 (R96T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 992254	NM_000305.3(PON2):c.286del (p.Arg96fs)	PON2 (R96fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 3233792	NM_000305.3(PON2):c.273A>G (p.Lys91=)	PON2	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2338757	NM_000305.3(PON2):c.236C>T (p.Pro79Leu)	PON2 (P79L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052079	NM_000305.3(PON2):c.228C>T (p.Ser76=)	PON2	Single nucleotide variant (synonymous variant)	PON2-related disorder	GLikely benign
Select item 2457592	NM_000305.3(PON2):c.218G>C (p.Gly73Ala)	PON2 (G73A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333784	NM_000305.3(PON2):c.202G>A (p.Gly68Ser)	PON2 (G68S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1242240	NM_000305.3(PON2):c.201+296G>C	PON2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282053	NM_000305.3(PON2):c.201+247G>T	PON2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1722346	NM_000305.3(PON2):c.195T>C (p.Phe65=)	PON2	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 987838	NM_000305.3(PON2):c.195del (p.Phe65fs)	PON2 (F65fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 2581503	NM_000305.3(PON2):c.139G>A (p.Gly47Arg)	PON2 (G47R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216758	NM_000305.3(PON2):c.92C>A (p.Ser31Tyr)	PON2 (S31Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2577265	NM_000305.3(PON2):c.75-4A>G	PON2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 977712	NM_000305.3(PON2):c.75-20dup	PON2	Duplication (intron variant)	not specified	GLikely benign
Select item 1259983	NM_000305.3(PON2):c.75-110A>C	PON2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246981	NM_000305.3(PON2):c.75-231del	PON2	Deletion (intron variant)	not provided	GBenign
Select item 3031586	NM_000305.3(PON2):c.45G>C (p.Ala15=)	PON2	Single nucleotide variant (synonymous variant)	PON2-related disorder	GLikely benign
Select item 495799	NM_000305.3(PON2):c.-5G>A	PON2	Single nucleotide variant (5 prime UTR variant)	PON2-related disorder +1 more	GBenign
Select item 2577267	NM_000305.3(PON2):c.-15C>T	PON2	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2657691	NM_000305.3(PON2):c.-52C>G	PON2	Single nucleotide variant (5 prime UTR variant)	not provided	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 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 1527378	GRCh37/hg19 7q21.3(chr7:94309218-95455621)	ASB4, DYNC1I1 +5 more	Copy number gain	not specified	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)	CASD1, COL1A2 +13 more	Copy number loss	Myoclonic dystonia 11	GPathogenic
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	ARPC1A, ARPC1B +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

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Items: 73