ClinVar for Gene (Select 5733) - ClinVar

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Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062844	GRCh37/hg19 1p31.1(chr1:70886158-71330939)x3	CTH, PTGER3	Copy number gain	not specified	GUncertain significance
Select item 2559833	NM_198719.2(PTGER3):c.121C>G (p.Pro41Ala)	PTGER3, ZRANB2-AS1 (P41A)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2535411	NM_198718.2(PTGER3):c.1112G>A (p.Cys371Tyr)	PTGER3 (C371Y)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2483467	NM_198719.2(PTGER3):c.971A>G (p.Glu324Gly)	PTGER3 (E324G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2315222	NM_198719.2(PTGER3):c.1068G>T (p.Lys356Asn)	PTGER3 (K356N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2314274	NM_198719.2(PTGER3):c.989T>C (p.Ile330Thr)	PTGER3 (I330T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2297485	NM_198719.2(PTGER3):c.64A>C (p.Thr22Pro)	ZRANB2-AS1, PTGER3 (T22P)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2244161	NM_198718.2(PTGER3):c.1151A>T (p.His384Leu)	PTGER3 (H384L)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2224214	NM_198719.2(PTGER3):c.23G>A (p.Gly8Glu)	ZRANB2-AS1, PTGER3 (G8E)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1809428	GRCh37/hg19 1p31.1(chr1:69989275-72180606)x1	ANKRD13C, CTH +8 more	Copy number loss	not provided	GUncertain significance
Select item 1707456	Single allele	ACADM, AK5 +188 more	Duplication	not specified	GUncertain significance
Select item 1527060	GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	MCOLN3, MIGA1 +97 more	Copy number loss	not specified	GPathogenic
Select item 814095	GRCh37/hg19 1p31.1(chr1:71419650-72398325)x1	PTGER3, NEGR1-IT1 +3 more	Copy number loss	not provided	GUncertain significance
Select item 814094	GRCh37/hg19 1p31.1(chr1:71366112-71468493)x1	PTGER3	Copy number loss	not provided	GUncertain significance
Select item 777911	NM_198719.2(PTGER3):c.111C>G (p.Leu37=)	PTGER3, ZRANB2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 770488	NM_198718.2(PTGER3):c.1185del (p.Asn395fs)	PTGER3 (N395fs)	Deletion (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 686749	GRCh37/hg19 1p31.3-31.1(chr1:66868168-77106425)x1	ACADM, ANKRD13C +39 more	Copy number loss	not provided	GPathogenic
Select item 685733	GRCh37/hg19 1p31.3-22.3(chr1:67851233-86101340)x1	ACADM, ADGRL2 +65 more	Copy number loss	not provided	GPathogenic
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 625763	GRCh37/hg19 1p31.1(chr1:71410579-78131158)	ACADM, AK5 +21 more	Copy number gain	not provided	GPathogenic
Select item 565110	GRCh37/hg19 1p31.1(chr1:70885420-71331430)x3	PTGER3, CTH	Copy number gain	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 155706	GRCh38/hg38 1p31.1(chr1:70716347-71407975)x3	LINC01788, LOC129388549 +8 more	Copy number gain	See cases	GLikely benign
Select item 155062	GRCh38/hg38 1p31.3-31.1(chr1:66865125-77123381)x1	LOC129930731, LOC129930732 +165 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 152784	GRCh38/hg38 1p31.1(chr1:70907033-70991687)x1	PTGER3	Copy number loss	See cases	GUncertain significance
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 144228	GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1	AK4, ALG6 +270 more	Copy number loss	See cases	GPathogenic
Select item 59972	GRCh38/hg38 1p31.3-31.1(chr1:67239704-71924806)x1	ANKRD13C, ANKRD13C-DT +80 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 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