ClinVar for Gene (Select 81553) - ClinVar

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Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3270714	NM_030797.4(CYRIA):c.144C>G (p.Ile48Met)	CYRIA (I48M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270713	NM_030797.4(CYRIA):c.856G>A (p.Val286Ile)	CYRIA (V286I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247566	NC_000002.11:g.(?_15601305)_(17362569_?)dup	CYRIA, DDX1 +3 more	Duplication	not provided	GUncertain significance
Select item 3247533	NC_000002.11:g.(?_15307172)_(17963206_?)dup	CYRIA, DDX1 +7 more	Duplication	not provided	GUncertain significance
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3079786	NM_030797.4(CYRIA):c.5G>A (p.Gly2Glu)	CYRIA (G2E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079785	NM_030797.4(CYRIA):c.538A>C (p.Asn180His)	CYRIA (N180H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079784	NM_030797.4(CYRIA):c.496C>T (p.Arg166Cys)	CYRIA (R166C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062591	GRCh37/hg19 2p25.2-24.1(chr2:6375088-23538518)x3	APOB, ASAP2 +59 more	Copy number gain	not specified	GPathogenic
Select item 2601689	NM_030797.4(CYRIA):c.153C>A (p.Asp51Glu)	CYRIA (D51E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467709	NM_030797.4(CYRIA):c.10C>A (p.Leu4Met)	CYRIA (L4M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1458517	NC_000002.11:g.(?_15760332)_(17692222_?)del	CYRIA, DDX1 +3 more	Deletion	not provided	GPathogenic
Select item 1180531	GRCh37/hg19 2p24.3-24.1(chr2:15640273-19609496)x1	CYRIA, DDX1 +13 more	Copy number loss	not provided	GPathogenic
Select item 814222	GRCh37/hg19 2p24.3-24.2(chr2:15478363-17062394)x3	CYRIA, NBAS +3 more	Copy number gain	not provided	GPathogenic
Select item 812922	NC_000002.11:g.15744252_17675820del	DDX1, CYRIA +2 more	Deletion	Peripheral edema +4 more	GLikely pathogenic
Select item 687179	GRCh37/hg19 2p24.3-24.1(chr2:15631145-21729493)x1	APOB, CYRIA +25 more	Copy number loss	not provided	GPathogenic
Select item 686578	GRCh37/hg19 2p24.3-24.2(chr2:12269293-18259781)x3	CYRIA, DDX1 +11 more	Copy number gain	not provided	GPathogenic
Select item 443675	GRCh37/hg19 2p25.3-24.1(chr2:12770-20081474)x3	ACP1, ADAM17 +65 more	Copy number gain	See cases	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 155637	GRCh38/hg38 2p24.3-24.2(chr2:16230078-16603848)x0	CYRIA, LOC122756388	Copy number loss	See cases	GUncertain significance
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	LOC129933244, LOC129933245 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 152693	GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3	ACP1, ADAM17 +498 more	Copy number gain	See cases	GPathogenic
Select item 148848	GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3	ADAM17, ADI1 +546 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933186, LOC129933187 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 33