ClinVar for Gene (Select 5446) - ClinVar

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Links from Gene

Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685252	GRCh37/hg19 7q21.3(chr7:94813388-96264152)x1	ASB4, C7orf76 +7 more	Copy number loss	not provided	GPathogenic
Select item 2657690	NM_000940.3(PON3):c.94C>G (p.Arg32Gly)	PON3 (R32G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2601107	NM_000940.3(PON3):c.939G>C (p.Lys313Asn)	PON3 (K313N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599842	NM_000940.3(PON3):c.267T>G (p.Asp89Glu)	PON3 (D89E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568771	NM_000940.3(PON3):c.388G>A (p.Val130Ile)	PON3 (V130I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547388	NM_000940.3(PON3):c.307A>C (p.Ser103Arg)	PON3 (S103R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507980	NM_000940.3(PON3):c.916A>T (p.Ile306Phe)	PON3 (I306F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460145	NM_000940.3(PON3):c.740T>C (p.Met247Thr)	PON3 (M247T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454466	NM_000940.3(PON3):c.851A>T (p.His284Leu)	PON3 (H284L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319039	NM_000940.3(PON3):c.913C>T (p.Arg305Cys)	PON3 (R305C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299631	NM_000940.3(PON3):c.107C>T (p.Pro36Leu)	PON3 (P36L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276635	NM_000940.3(PON3):c.692A>G (p.Gln231Arg)	PON3 (Q231R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275916	NM_000940.3(PON3):c.406A>G (p.Met136Val)	PON3 (M136V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252518	NM_000940.3(PON3):c.408G>T (p.Met136Ile)	PON3 (M136I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235273	NM_000940.3(PON3):c.155C>T (p.Ser52Phe)	PON3 (S52F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231243	NM_000940.3(PON3):c.442C>A (p.Gln148Lys)	PON3 (Q148K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216710	NM_000940.3(PON3):c.773T>A (p.Leu258Gln)	PON3 (L258Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1527378	GRCh37/hg19 7q21.3(chr7:94309218-95455621)	ASB4, DYNC1I1 +5 more	Copy number gain	not specified	GUncertain significance
Select item 1294630	NM_000940.3(PON3):c.367+127T>A	PON3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289875	NM_000940.3(PON3):c.201+111C>T	PON3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289181	NM_000940.3(PON3):c.297G>A (p.Ala99=)	PON3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1268453	NM_000940.3(PON3):c.63C>T (p.Phe21=)	PON3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1252418	NM_000940.3(PON3):c.74+136C>T	PON3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252233	NM_000940.3(PON3):c.75-20T>C	PON3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249064	NM_000940.3(PON3):c.907-230G>A	PON3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246197	NM_000940.3(PON3):c.696-91A>G	PON3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242524	NM_000940.3(PON3):c.906+42A>G	PON3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239780	NM_000940.3(PON3):c.695+267C>T	PON3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221645	NM_000940.3(PON3):c.368-113A>C	PON3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180951	NM_000940.3(PON3):c.*29dup	PON3	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1179598	NM_000940.3(PON3):c.75-164del	PON3	Deletion (intron variant)	not provided	GBenign
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 799182	NM_000940.3(PON3):c.234G>T (p.Ala78=)	PON3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 783495	NM_000940.3(PON3):c.536C>A (p.Ala179Asp)	PON3 (A179D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 777175	NM_000940.3(PON3):c.609T>C (p.Tyr203=)	PON3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 756300	NM_000940.3(PON3):c.1032C>T (p.Thr344=)	PON3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 732851	NM_000940.3(PON3):c.427T>C (p.Phe143Leu)	PON3 (F143L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 732345	NM_000940.3(PON3):c.907-5G>A	PON3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 731879	NM_000940.3(PON3):c.816C>T (p.Val272=)	PON3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 728952	NM_000940.3(PON3):c.777+8T>C	PON3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 727834	NM_000940.3(PON3):c.84G>A (p.Val28=)	PON3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 716357	NM_000940.3(PON3):c.5G>A (p.Gly2Glu)	PON3 (G2E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 711480	NM_000940.3(PON3):c.436G>A (p.Glu146Lys)	PON3 (E146K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 708721	NM_000940.3(PON3):c.971G>A (p.Gly324Asp)	PON3 (G324D)	Single nucleotide variant (missense 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	ARPC1A, ARPC1B +65 more	Copy number loss	Split hand-foot malformation 1	GPathogenic
Select item 488870	NM_000940.3(PON3):c.94C>T (p.Arg32Ter)	PON3 (R32*)	Single nucleotide variant (nonsense)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 418423	NM_000940.3(PON3):c.496G>A (p.Val166Met)	PON3 (V166M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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	ASB4, BET1 +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	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 60