ClinVar for Gene (Select 101929688) - ClinVar

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Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3238621	NM_002771.4(PRSS3):c.74T>C (p.Val25Ala)	PRSS3, UBE2R2-AS1 (V18A +2 more)	Single nucleotide variant (missense variant +1 more)	Thyroiditis	GUncertain significance
Select item 3185567	NM_017811.4(UBE2R2):c.97G>A (p.Val33Met)	UBE2R2, UBE2R2-AS1 (V33M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2786908	NM_002771.4(PRSS3):c.391A>G (p.Thr131Ala)	PRSS3, UBE2R2-AS1 (T131A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2659150	NM_007343.3(PRSS3):c.123C>T (p.Gly41=)	PRSS3, UBE2R2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2330992	NM_017811.4(UBE2R2):c.35C>T (p.Ala12Val)	UBE2R2, UBE2R2-AS1 (A12V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707453	GRCh38/hg38 9p13.3(chr9:33492358-34725916)x4	ANKRD18B, ARID3C +71 more	Copy number gain	not specified	GUncertain significance
Select item 1294450	NM_007343.4(PRSS3):c.-285+290C>A	PRSS3, UBE2R2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291262	NM_002771.4(PRSS3):c.200+112A>G	PRSS3, UBE2R2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280871	NM_007343.4(PRSS3):c.-285+23G>T	PRSS3, UBE2R2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271011	NM_001197097.3(PRSS3):c.51G>A (p.Ala17=)	UBE2R2-AS1, PRSS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1263618	NM_002771.4(PRSS3):c.200+256A>T	PRSS3, UBE2R2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259461	NM_007343.4(PRSS3):c.-285+120G>C	PRSS3, UBE2R2-AS1 (G5A)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1257582	NC_000009.12:g.33750457_33750461dup	PRSS3, UBE2R2-AS1	Duplication	not provided	GBenign
Select item 1249985	NC_000009.12:g.33750239C>T	PRSS3, UBE2R2-AS1	Single nucleotide variant	not provided	GBenign
Select item 1246185	NC_000009.12:g.33799372T>C	PRSS3, UBE2R2-AS1	Single nucleotide variant	not provided	GBenign
Select item 1245449	NM_002771.4(PRSS3):c.201-66G>T	PRSS3, UBE2R2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239378	NM_002771.4(PRSS3):c.592-188T>C	PRSS3, UBE2R2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237663	NM_002771.4(PRSS3):c.201-66G>A	PRSS3, UBE2R2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225003	NM_002771.4(PRSS3):c.91GAG[1] (p.Glu32del)	PRSS3, UBE2R2-AS1 (E25del +2 more)	Microsatellite (inframe_deletion +1 more)	not provided	GBenign
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ACER2, ACO1 +899 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155431	GRCh38/hg38 9p13.3(chr9:33646893-34484057)x3	DCAF12, DNAI1 +37 more	Copy number gain	See cases	GUncertain significance
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	LOC130001484, LOC130001485 +883 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	CDKN2B, CDKN2B-AS1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 154223	GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3	ACO1, ALDH1B1 +436 more	Copy number gain	See cases	GLikely pathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LOC130001854, LOC130001855 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153185	GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3	ACO1, ALDH1B1 +504 more	Copy number gain	See cases	GPathogenic
Select item 151755	GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)	ACER2, ACO1 +691 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001585, LOC130001586 +984 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	LOC130001507, LOC130001508 +899 more	Copy number gain	See cases	GPathogenic
Select item 150116	GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3	ACER2, ACO1 +582 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	LOC130001746, LOC130001747 +980 more	Copy number gain	See cases	GPathogenic
Select item 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	ACER2, ACO1 +586 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	LOC130001680, LOC130001681 +1062 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	LOC124210611, LOC124210612 +1120 more	Copy number gain	See cases	GPathogenic
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	LOC130001767, LOC130001768 +1006 more	Copy number gain	See cases	GPathogenic
Select item 145374	GRCh38/hg38 9p13.3-13.2(chr9:33572681-36782015)x1	PTENP1-AS, RECK +211 more	Copy number loss	See cases	GPathogenic
Select item 144347	GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3	ALDH1B1, ANKRD18B +360 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	ACER2, ACO1 +894 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	SPATA31F3, SPATA31G1 +898 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ANKRD18B, APTX +899 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 49