ClinVar for Gene (Select 100132618) - ClinVar

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Links from Gene

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3220727	NM_198719.2(PTGER3):c.820G>A (p.Gly274Ser)	PTGER3, ZRANB2-AS1 (G274S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3220726	NM_198719.2(PTGER3):c.694T>C (p.Ser232Pro)	PTGER3, ZRANB2-AS1 (S232P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3220725	NM_198719.2(PTGER3):c.490T>C (p.Trp164Arg)	PTGER3, ZRANB2-AS1 (W164R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3220724	NM_198719.2(PTGER3):c.47G>A (p.Arg16His)	PTGER3, ZRANB2-AS1 (R16H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3220723	NM_198719.2(PTGER3):c.214C>T (p.Leu72Phe)	PTGER3, ZRANB2-AS1 (L72F)	Single nucleotide variant (non-coding transcript variant +1 more)	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)	not specified	GUncertain significance
Select item 2535612	NM_203350.3(ZRANB2):c.959A>T (p.His320Leu)	ZRANB2, ZRANB2-AS1 (H320L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2520436	NM_203350.3(ZRANB2):c.892C>T (p.Arg298Cys)	ZRANB2, ZRANB2-AS1 (R298C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2519703	NM_203350.3(ZRANB2):c.866G>A (p.Arg289His)	ZRANB2, ZRANB2-AS1 (R289H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2478980	NM_203350.3(ZRANB2):c.872G>T (p.Arg291Ile)	ZRANB2, ZRANB2-AS1 (R291I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2297485	NM_198719.2(PTGER3):c.64A>C (p.Thr22Pro)	PTGER3, ZRANB2-AS1 (T22P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2224214	NM_198719.2(PTGER3):c.23G>A (p.Gly8Glu)	PTGER3, ZRANB2-AS1 (G8E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1707456	Single allele	ACADM, AK5 +188 more	Duplication	not specified	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 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	ACADM, ANKRD13C +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 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	MIGA1, MIR101-1 +558 more	Copy number loss	See cases	GPathogenic
Select item 144228	GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1	DEPDC1, DEPDC1-AS1 +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	ACADM, AK4 +331 more	Copy number loss	See cases	GPathogenic
Select item 59970	GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1	LOC111501769, LOC112590812 +339 more	Copy number loss	See cases	GPathogenic
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 23