ClinVar for Gene (Select 5142) - ClinVar

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Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2610998	NM_002600.4(PDE4B):c.638A>G (p.Glu213Gly)	PDE4B (E213G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511116	NM_002600.4(PDE4B):c.1507C>T (p.Arg503Cys)	PDE4B (R411C +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2425382	NC_000001.10:g.(?_61548464)_(67861772_?)del	AK4, ALG6 +32 more	Deletion	not provided	GPathogenic
Select item 2424397	NC_000001.10:g.(?_65299551)_(67861772_?)del	AK4, C1orf141 +14 more	Deletion	not provided	GPathogenic
Select item 2397985	NM_002600.4(PDE4B):c.1604C>T (p.Thr535Met)	PDE4B (T302M +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342995	NM_002600.4(PDE4B):c.2120C>T (p.Thr707Met)	PDE4B (T615M +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326945	NM_002600.4(PDE4B):c.1961G>A (p.Ser654Asn)	PDE4B (S482N +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313432	NM_002600.4(PDE4B):c.1488G>A (p.Met496Ile)	PDE4B (M324I +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253737	NM_002600.4(PDE4B):c.2163G>C (p.Glu721Asp)	PDE4B (E488D +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232001	NM_002600.4(PDE4B):c.449C>T (p.Ser150Leu)	PDE4B (S135L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214422	NM_002600.4(PDE4B):c.2044C>G (p.Leu682Val)	PDE4B (L449V +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212987	NM_002600.4(PDE4B):c.2066C>T (p.Ser689Phe)	PDE4B (S674F +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1808872	GRCh37/hg19 1p31.3(chr1:66815031-67319280)x3	DNAI4, DYNLT5 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1527048	GRCh37/hg19 1p31.3-31.2(chr1:65125111-69186543)	SGIP1, SLC35D1 +23 more	Copy number gain	not specified	GUncertain significance
Select item 981205	GRCh37/hg19 1p32.3-31.3(chr1:53675707-66644963)x1	JUN, KANK4 +67 more	Copy number loss	Chromosome 1p32-p31 deletion syndrome	GPathogenic
Select item 798852	NM_002600.4(PDE4B):c.1056C>T (p.Ile352=)	PDE4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 773110	NM_002600.4(PDE4B):c.1788G>A (p.Arg596=)	PDE4B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 728986	NM_002600.4(PDE4B):c.2107A>T (p.Ser703Cys)	PDE4B (S531C +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 718969	NM_002600.4(PDE4B):c.1341C>T (p.Asp447=)	PDE4B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 708064	NM_002600.4(PDE4B):c.1926C>T (p.Leu642=)	PDE4B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 684460	Single allele	ACADM, ADGRL2 +85 more	Deletion	not provided	Gnot provided
Select item 666427	Single allele	ITGB3BP, JAK1 +53 more	Deletion	Intellectual disability, severe	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 565108	GRCh37/hg19 1p31.3(chr1:66191074-66456663)x3	PDE4B	Copy number gain	not provided	GUncertain significance
Select item 565106	GRCh37/hg19 1p31.3(chr1:64848307-67436595)x1	SGIP1, JAK1 +12 more	Copy number loss	not provided	GUncertain significance
Select item 565102	GRCh37/hg19 1p31.3-31.1(chr1:62434799-71656180)x3	AK4, ALG6 +46 more	Copy number gain	not provided	GPathogenic
Select item 442708	GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1	ACADM, ADGRL2 +94 more	Copy number loss	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441647	GRCh37/hg19 1p31.3-31.1(chr1:61351024-79583933)x1	ACADM, ADGRL4 +78 more	Copy number loss	See cases	GPathogenic
Select item 154385	GRCh38/hg38 1p31.3-31.1(chr1:64072618-75518432)x3	AK4, ANKRD13C +210 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	LOC129930559, LOC129930560 +422 more	Copy number gain	See cases	GLikely pathogenic
Select item 152348	GRCh38/hg38 1p31.3(chr1:64944525-67592003)x1	LOC129930737, LOC129930738 +90 more	Copy number loss	See cases	GLikely pathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	LOC129930848, LOC129930849 +558 more	Copy number loss	See cases	GPathogenic
Select item 144714	GRCh38/hg38 1p32.1-31.2(chr1:58819605-69107108)x1	AK4, ALG6 +276 more	Copy number loss	See cases	GPathogenic
Select item 144228	GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1	AK4, ALG6 +270 more	Copy number loss	See cases	GPathogenic
Select item 59971	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	LOC126805749, LOC126805750 +331 more	Copy number loss	See cases	GPathogenic
Select item 59970	GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1	AK4, ALG6 +339 more	Copy number loss	See cases	GPathogenic
Select item 59361	GRCh38/hg38 1p31.3(chr1:66026161-66280387)x1	PDE4B, PDE4B-AS1	Copy number loss	See cases	GUncertain significance
Select item 59360	GRCh38/hg38 1p31.3(chr1:65969909-66128534)x1	PDE4B, PDE4B-AS1	Copy number loss	See cases	GUncertain significance
Select item 58081	GRCh38/hg38 1p31.3(chr1:61922650-66445757)x3	AK4, ALG6 +129 more	Copy number gain	See cases	GPathogenic
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	LOC129388541, LOC129388542 +570 more	Copy number gain	See cases	GPathogenic
Select item 57090	GRCh38/hg38 1p32.1-31.1(chr1:60473800-70944955)x1	AK4, ALG6 +253 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 43